The Disease Ontology has been developed as a standardized ontology for human disease with the purpose of providing the biomedical community with consistent, reusable and sustainable descriptions of human disease terms, phenotype characteristics and related medical vocabulary disease concepts. en Human Disease Ontology 30:05:2025 09:42 disease_ontology 1.2 lschriml Sourced from http://purl.obolibrary.org/obo/chebi/241/chebi.owl Sourced from http://purl.obolibrary.org/obo/cl/releases/2025-04-10/cl.owl Sourced from http://purl.obolibrary.org/obo/disdriv/releases/2025-03-20/disdriv.owl Sourced from http://purl.obolibrary.org/obo/eco/releases/2025-04-30/eco.owl Sourced from http://purl.obolibrary.org/obo/foodon/releases/2025-02-01/foodon.owl Sourced from http://purl.obolibrary.org/obo/geno/releases/2023-10-08/geno.owl Sourced from http://purl.obolibrary.org/obo/hp/releases/2025-05-06/hp.owl Sourced from http://purl.obolibrary.org/obo/ncbitaxon/2025-03-13/ncbitaxon.owl Sourced from http://purl.obolibrary.org/obo/ro/releases/2025-03-05/ro.owl Sourced from http://purl.obolibrary.org/obo/so/2024-11-18/so.owl Sourced from http://purl.obolibrary.org/obo/symp/releases/2024-05-17/symp.owl Sourced from http://purl.obolibrary.org/obo/trans/releases/2022-10-10/trans.owl Sourced from http://purl.obolibrary.org/obo/uberon/releases/2025-05-28/uberon.owl The Disease Ontology content is available via the Creative Commons Public Domain Dedication CC0 1.0 Universal license (https://creativecommons.org/publicdomain/zero/1.0/). 2025-05-30 The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions. definition The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions. url:http://purl.obolibrary.org/obo/iao.owl Formal citation, e.g. identifier in external database to indicate / attribute source(s) for the definition. Free text indicate / attribute source(s) for the definition. EXAMPLE: Author Name, URI, MeSH Term C04, PUBMED ID, Wiki uri on 31.01.2007. definition source Formal citation, e.g. identifier in external database to indicate / attribute source(s) for the definition. Free text indicate / attribute source(s) for the definition. EXAMPLE: Author Name, URI, MeSH Term C04, PUBMED ID, Wiki uri on 31.01.2007. url:http://purl.obolibrary.org/obo/iao.owl Has ontology root term. has ontology root term has ontology root term has_ontology_root_term Has ontology root term. url:http://purl.obolibrary.org/obo/IAO_0000700 Use on obsolete terms, relating the term to another term that can be used as a substitute. term replaced by Use on obsolete terms, relating the term to another term that can be used as a substitute. url:https://www.ebi.ac.uk/ols/ontologies/iao/properties?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FIAO_0100001 An alternative term used by the IEDB. IEDB alternative term An alternative term used by the IEDB. url:https://www.iedb.org acronym DO_AGR_slim DO_AGR_slim DO_CFDE_slim DO_CFDE_slim DO_FlyBase_slim DO_FlyBase_slim DO_GXD_slim DO_GXD_slim DO_IEDB_slim DO_IEDB_slim DO_MGI_slim DO_MGI_slim DO_RAD_slim DO_RAD_slim DO_cancer_slim DO_cancer_slim DO_childhood_cancer_slim DO_childhood_cancer_slim DO_infectious_disease_slim DO_infectious_disease_slim DO_rare_slim DO_rare_slim GOLD GOLD NCIthesaurus NCIthesaurus TopNodes_DOcancerslim TopNodes_DOcancerslim gram-negative_bacterial_infectious_disease gram-negative_bacterial_infectious_disease gram-positive_bacterial_infectious_disease gram-positive_bacterial_infectious_disease sexually_transmitted_infectious_disease sexually_transmitted_infectious_disease tick-borne_infectious_disease tick-borne_infectious_disease zoonotic_infectious_disease zoonotic_infectious_disease dc:date Description of the ontology. Description. description Description of the ontology. url:http://purl.org/dc/elements/1.1/description Description. url:http://purl.org/dc/elements/1.1/description Title of the ontology. Title. title Title of the ontology. url:http://purl.org/dc/elements/1.1/title Title. url:http://purl.org/dc/elements/1.1/title The dc:type. dc:type The dc:type. url:http://purl.org/dc/elements/1.1/type License of the ontology. License. license License of the ontology. url:http://purl.org/dc/terms/license License. url:http://purl.org/dc/terms/license Subset property, name of subet. subset_property Subset property, name of subet. url:http://www.geneontology.org/formats/oboInOwl#SubsetProperty synonym_type_property auto-generated-by Author of the class. created_by Author of the class. url:http://www.geneontology.org/formats/oboInOwl#created_by Date class was created. creation_date Date class was created. url:http://www.geneontology.org/formats/oboInOwl#creation_date Date. date Date. url:http://purl.org/dc/elements/1.1/date Default namespace. default-namespace Default namespace. url:http://www.geneontology.org/formats/oboInOwl#default-namespace ID of merged class. has_alternative_id ID of merged class. url:http://www.geneontology.org/formats/oboInOwl#hasAlternativeId Broad synonym. has_broad_synonym Broad synonym. url:http://www.geneontology.org/formats/oboInOwl#hasBroadSynonym Reference database or publication source. database_cross_reference Reference database or publication source. url:http://www.geneontology.org/formats/oboInOwl#hasDbXref Exact synonym. has_exact_synonym Exact synonym. url:http://www.geneontology.org/formats/oboInOwl#hasExactSynonym Narrow synonym. has_narrow_synonym Narrow synonym. url:http://www.geneontology.org/formats/oboInOwl#hasNarrowSynonym Has OBO format version. has_obo_format_version Has OBO format version. url:http://www.geneontology.org/formats/oboInOwl#hasOBOFormatVersion Name space of the ontology. disease_ontology has_obo_namespace Name space of the ontology. url:http://www.geneontology.org/formats/oboInOwl#hasOBONamespace Has related synonym. has_related_synonym Has related synonym. url:http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym has_synonym_type An identifier for an individual entity. An identifier is an information content entity that is the outcome of a dubbing process and is used to refer to one instance of entity shared by a group of people to refer to that individual entity. id An identifier for an individual entity. url:http://purl.obolibrary.org/obo/IAO_0020000 An identifier is an information content entity that is the outcome of a dubbing process and is used to refer to one instance of entity shared by a group of people to refer to that individual entity. url:http://purl.obolibrary.org/obo/IAO_0020000 In subset. in_subset In subset. url:http://www.geneontology.org/formats/oboInOwl#inSubset Saved by. saved-by Saved by. url:http://www.geneontology.org/formats/oboInOwl#saved-by Comment. comment Comment. url:http://www.w3.org/2000/01/rdf-schema#comment Is defined by. rdfs:isDefinedBy Is defined by. url:http://www.w3.org/2000/01/rdf-schema#isDefinedBy A human readable name for this class. label label A human readable name for this class. url:http://www.w3.org/2000/01/rdf-schema#label A human readable name for this class. url:http://www.w3.org/2000/01/rdf-schema#label url:https://www.w3.org/TR/owl-guide/ OWL deprecated. owl:deprecated OWL deprecated. url:http://www.w3.org/2002/07/owl#deprecated Version info. owl:versionInfo Version info. url:http://www.w3.org/2002/07/owl#versionInfo A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is broad and the xref is narrow (represents subtypes). has broader match A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is broad and the xref is narrow (represents subtypes). url:https://www.w3.org/2009/08/skos-reference/skos.html#broadMatch A skos concept mapping used to link two concepts that are sufficiently similar that they can be used interchangeably. has close match A skos concept mapping used to link two concepts that are sufficiently similar that they can be used interchangeably. url:https://www.w3.org/2009/08/skos-reference/skos.html#closeMatch A skos concept mapping used to link two concepts, indicating a high degree of confidence that the concepts can be used interchangeably. has exact match A skos concept mapping used to link two concepts, indicating a high degree of confidence that the concepts can be used interchangeably. url:https://www.w3.org/2009/08/skos-reference/skos.html#exactMatch A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is narrow (DO represents subtypes) and the xref is broad. has narrower match A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is narrow (DO represents subtypes) and the xref is broad. url:https://www.w3.org/2009/08/skos-reference/skos.html#narrowMatch A skos concept mapping used to state an associative mapping link between two concepts. has related match A skos concept mapping used to state an associative mapping link between two concepts. https://www.w3.org/2009/08/skos-reference/skos.html#relatedMatch part of has part has characteristic has role has role is allergic trigger for is autoimmune trigger for spatially disjoint from develops from has exposure stressor related via exposure to has developmental contribution from developmentally preceded by has exposure stimulus ecologically related to mereotopologically related to developmentally related to causally related to relation between physical entity and a process or stage existence overlaps existence starts during or after produces produced by causes or contributes to condition causes condition condition has genetic basis in has major susceptibility factor realizable has basis in causal relationship with disease as subject A relation between two entities, in which one of the entities is any natural or human-influenced factor that directly or indirectly causes a change in the other entity. has driver has driver A relation between two entities, in which one of the entities is any natural or human-influenced factor that directly or indirectly causes a change in the other entity. url:http://purl.obolibrary.org/obo/RO_0007000 has phenotype or disease disease relationship Relation defining child to partent inheritance type. disease_ontology is_a Relation defining child to partent inheritance type. url:http://geneontology.org/docs/ontology-relations/ url:http://purl.obolibrary.org/obo/rex#is_a CHEBI:102166 CHEBI:102166 thiopental CHEBI:102166 CHEBI:103210 A cyclic dicarboxylic anhydride that is the cyclic anhydride of hexahydrophthalic acid. CHEBI:103210 hexahydrophthalic anhydride CHEBI:103210 A cyclic dicarboxylic anhydride that is the cyclic anhydride of hexahydrophthalic acid. url:https://pubchem.ncbi.nlm.nih.gov/compound/Hexahydrophthalic-anhydride CHEBI:128458 CHEBI:128458 disodium cromoglycate CHEBI:128458 CHEBI:133004 bisbenzylisoquinoline alkaloid CHEBI:133004 A bromoalkane consisting of cyclododecane bearing six bromo substituents at positions 1, 2, 5, 6, 9 and 10. hexabromocyclododecane CHEBI:134063 1,2,5,6,9,10-hexabromocyclododecane CHEBI:134063 A bromoalkane consisting of cyclododecane bearing six bromo substituents at positions 1, 2, 5, 6, 9 and 10. url:https://en.wikipedia.org/wiki/Hexabromocyclododecane url:https://www.niehs.nih.gov/health/topics/agents/flame_retardants/index.cfm Any compound that can disrupt the functions of the endocrine (hormone) system. CHEBI:138015 endochrine disruptor CHEBI:138015 Any compound that can disrupt the functions of the endocrine (hormone) system. url:https://www.niehs.nih.gov/health/topics/agents/endocrine/index.cf CHEBI:138412 CHEBI:138412 N,N'-diphenylthiourea CHEBI:138412 CHEBI:138675 gas molecular entity CHEBI:138675 CHEBI:140310 phenyl acetates CHEBI:140310 CHEBI:15365 CHEBI:15365 acetylsalicylic acid CHEBI:15365 CHEBI:15400 CHEBI:15400 (-)-carvone CHEBI:15400 CHEBI:15705 L-alpha-amino acid CHEBI:15705 An organic heterobicyclic compound that consists of 2-oxohexahydro-1H-thieno[3,4-d]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring. CHEBI:15956 biotin CHEBI:15956 An organic heterobicyclic compound that consists of 2-oxohexahydro-1H-thieno[3,4-d]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring. url:https://en.wikipedia.org/wiki/Biotin url:https://www.ncbi.nlm.nih.gov/books/NBK547751/ CHEBI:16134 CHEBI:16134 ammonia CHEBI:16134 CHEBI:161680 CHEBI:161680 aztreonam CHEBI:161680 A primary alcohol that is ethane in which one of the hydrogens is substituted by a hydroxy group. CHEBI:16236 ethanol CHEBI:16236 A primary alcohol that is ethane in which one of the hydrogens is substituted by a hydroxy group. url:https://en.wikipedia.org/wiki/Ethanol CHEBI:16385 organic sulfide CHEBI:16385 An aromatic ether that is phenol which is substituted at C-5 by a chloro group and at C-2 by a 2,4-dichlorophenoxy group. It is widely used as a preservative and antimicrobial agent in personal care products such as soaps, skin creams, toothpaste and deodorants as well as in household items such as plastic chopping boards, sports equipment and shoes. CHEBI:164200 triclosan CHEBI:164200 An aromatic ether that is phenol which is substituted at C-5 by a chloro group and at C-2 by a 2,4-dichlorophenoxy group. It is widely used as a preservative and antimicrobial agent in personal care products such as soaps, skin creams, toothpaste and deodorants as well as in household items such as plastic chopping boards, sports equipment and shoes. url:https://en.wikipedia.org/wiki/Triclosan url:https://www.niehs.nih.gov/health/topics/agents/endocrine/index.cfm CHEBI:16646 carbohydrate CHEBI:16646 CHEBI:167099 CHEBI:167099 benzo[d]isothiazol-3-one CHEBI:167099 A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system. NCIT:C302 CHEBI:16716 benzene CHEBI:16716 A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3271273/ CHEBI:16842 An aldehyde resulting from the formal oxidation of methanol. CHEBI:16842 formaldehyde CHEBI:16842 An aldehyde resulting from the formal oxidation of methanol. url:https://en.wikipedia.org/wiki/Formaldehyde url:https://www.niehs.nih.gov/health/topics/agents/formaldehyde/index.cfm CHEBI:16899 CHEBI:16899 D-mannitol CHEBI:16899 CHEBI:17087 ketone CHEBI:17087 CHEBI:17102 phosphoramide CHEBI:17102 A flame retardant that is brominated flame retardant, contain bromine and are the most abundantly used flame retardants. Used in many consumer goods, including electronics, furniture, building materials, etc. and have been linked to endocrine disruption among other effects. CHEBI:172368 brominated flame retardant CHEBI:172368 A flame retardant that is brominated flame retardant, contain bromine and are the most abundantly used flame retardants. Used in many consumer goods, including electronics, furniture, building materials, etc. and have been linked to endocrine disruption among other effects. url:https://www.niehs.nih.gov/health/topics/agents/flame_retardants/index.cfm A hydroxyether which contains both an ether and alcohol functional groups. It is one of the most versatile classes of organic solvents which are commonly used in paints, cleaners, adhesives, pharmaceuticals and cosmetics. CHEBI:172390 glycol ether CHEBI:172390 A hydroxyether which contains both an ether and alcohol functional groups. It is one of the most versatile classes of organic solvents which are commonly used in paints, cleaners, adhesives, pharmaceuticals and cosmetics. url:https://en.wikipedia.org/wiki/Glycol_ethers url:https://www.cdc.gov/niosh/docs/83-112/default.html url:https://www.epa.gov/sites/production/files/2016-09/documents/glycol-ethers.pdf An endocrine disruptor that is perfluoroalkyl substance, used widely in industrial applications, such as firefighting foams and non-stick pan, paper, and textile coatings. CHEBI:172397 perfluoroalkyl substance CHEBI:172397 An endocrine disruptor that is perfluoroalkyl substance, used widely in industrial applications, such as firefighting foams and non-stick pan, paper, and textile coatings. url:https://www.niehs.nih.gov/health/topics/agents/endocrine/index.cfm A one-carbon compound in which the carbon is joined only to a single oxygen. It is a colourless, odourless, tasteless, toxic gas. CHEBI:17245 carbon monoxide CHEBI:17245 A one-carbon compound in which the carbon is joined only to a single oxygen. It is a colourless, odourless, tasteless, toxic gas. url:https://medlineplus.gov/carbonmonoxidepoisoning.html url:https://www.cdc.gov/co/faqs.htm CHEBI:17334 CHEBI:17334 penicillin CHEBI:17334 CHEBI:17478 aldehyde CHEBI:17478 A pseudohalide anion that is the conjugate base of hydrogen cyanide. CHEBI:17514 cyanide CHEBI:17514 A pseudohalide anion that is the conjugate base of hydrogen cyanide. url:https://emergency.cdc.gov/agent/cyanide/basics/facts.asp CHEBI:17522 alditol CHEBI:17522 CHEBI:17792 organohalogen compound CHEBI:17792 CHEBI:18059 lipid CHEBI:18059 CHEBI:18208 CHEBI:18208 benzylpenicillin CHEBI:18208 CHEBI:204928 CHEBI:204928 cefotaxime CHEBI:204928 CHEBI:22221 acyl group CHEBI:22221 Any of a group of related and highly toxic secondary metabolites (mycotoxins) whose main structural feature is a fused coumarin-bis (dihydrofuran) ring system and which are produced by strains of the moulds Aspergillus flavus or A. parasiticus, together with further metabolites of these mycotoxins. CHEBI:22271 aflatoxin CHEBI:22271 Any of a group of related and highly toxic secondary metabolites (mycotoxins) whose main structural feature is a fused coumarin-bis (dihydrofuran) ring system and which are produced by strains of the moulds Aspergillus flavus or A. parasiticus, together with further metabolites of these mycotoxins. url:https://en.wikipedia.org/wiki/Aflatoxin url:https://www.cancer.gov/about-cancer/causes-prevention/risk/substances/aflatoxins url:https://www.fda.gov/animal-veterinary/animal-health-literacy/aflatoxin-poisoning-pets CHEBI:22315 alkaloid CHEBI:22315 CHEBI:22527 aminopurine CHEBI:22527 CHEBI:22562 anilines CHEBI:22562 CHEBI:22682 azobenzenes CHEBI:22682 CHEBI:22693 barbiturates CHEBI:22693 CHEBI:22712 benzenes CHEBI:22712 CHEBI:22723 benzoic acids CHEBI:22723 CHEBI:22726 benzophenones CHEBI:22726 CHEBI:22750 benzylisoquinoline alkaloid CHEBI:22750 CHEBI:22925 bromide salt CHEBI:22925 CHEBI:22928 bromine molecular entity CHEBI:22928 A heavy metal that is cadmium, a soft, malleable, bluish white metal found in zinc ores. CHEBI:22977 cadmium CHEBI:22977 A heavy metal that is cadmium, a soft, malleable, bluish white metal found in zinc ores. url:https://www.osha.gov/cadmium CHEBI:23048 carvones CHEBI:23048 CHEBI:23066 CHEBI:23066 cephalosporin CHEBI:23066 CHEBI:23117 chlorine molecular entity CHEBI:23117 CHEBI:23132 chlorobenzenes CHEBI:23132 CHEBI:23367 molecular entity CHEBI:23367 CHEBI:23443 cyclic amide CHEBI:23443 CHEBI:23666 diamine CHEBI:23666 CHEBI:23697 dichlorobenzene CHEBI:23697 CHEBI:23888 CHEBI:23888 drug CHEBI:23888 CHEBI:23906 monoatomic cation CHEBI:23906 CHEBI:24129 furans CHEBI:24129 CHEBI:24431 CHEBI:24431 chemical entity CHEBI:24431 CHEBI:24433 group CHEBI:24433 CHEBI:24436 guanidines CHEBI:24436 CHEBI:24471 halogen molecular entity CHEBI:24471 CHEBI:24531 heterocyclic antibiotic CHEBI:24531 CHEBI:24532 organic heterocyclic compound CHEBI:24532 CHEBI:24583 hexitol CHEBI:24583 CHEBI:24628 imidazolidine-2,4-dione CHEBI:24628 CHEBI:24651 hydroxides CHEBI:24651 CHEBI:24833 oxoacid CHEBI:24833 CHEBI:24835 inorganic molecular entity CHEBI:24835 CHEBI:24866 salt CHEBI:24866 CHEBI:24867 monoatomic ion CHEBI:24867 CHEBI:24868 organic salt CHEBI:24868 CHEBI:24870 ion CHEBI:24870 CHEBI:24913 isoprenoid CHEBI:24913 CHEBI:24921 isoquinoline alkaloid CHEBI:24921 CHEBI:24995 lactam CHEBI:24995 CHEBI:25000 lactone CHEBI:25000 A chemical driver that is composed of lead, which is found primarily in old paint, old paint dust, contaminated soil or contaminated drinking water. CHEBI:25016 lead CHEBI:25016 A chemical driver that is composed of lead, which is found primarily in old paint, old paint dust, contaminated soil or contaminated drinking water. url:https://www.niehs.nih.gov/health/topics/agents/lead CHEBI:25186 p-menthane monoterpenoid CHEBI:25186 A heavy metal that is mercury, is toxic to living organisms, is an odorless, shiny, silver-white liquid that is commonly used in thermometers, barometers and fluorescent light bulbs. CHEBI:25195 mercury CHEBI:25195 A heavy metal that is mercury, is toxic to living organisms, is an odorless, shiny, silver-white liquid that is commonly used in thermometers, barometers and fluorescent light bulbs. url:https://www.niehs.nih.gov/health/topics/agents/mercury/index.cfm CHEBI:25213 CHEBI:25213 metal cation CHEBI:25213 CHEBI:25367 molecule CHEBI:25367 CHEBI:25384 monocarboxylic acid CHEBI:25384 CHEBI:25409 monoterpenoid CHEBI:25409 CHEBI:25558 organonitrogen heterocyclic antibiotic CHEBI:25558 CHEBI:25693 organic heteromonocyclic compound CHEBI:25693 CHEBI:25697 organic cation CHEBI:25697 CHEBI:25698 ether CHEBI:25698 CHEBI:25699 organic ion CHEBI:25699 CHEBI:25754 oxo carboxylic acid CHEBI:25754 CHEBI:25806 oxygen molecular entity CHEBI:25806 CHEBI:25865 penicillanic acids CHEBI:25865 CHEBI:25985 phenylalanine derivative CHEBI:25985 An endocrine disruptor that is phthalate, used to make plastics more flexible, they are also found in some food packaging, cosmetics, children’s toys, and medical devices. A family of benzene derivatives that are formed by esterification of phthalic acid. Phthalates are added to increase the flexibility and softness of commercial plastics, which are incorporated into a wide variety of consumer goods. Ingested phthalates may exhibit estrogenic or antiandrogenic effects or they may act as endocrine disruptors. NCIT:C152072 CHEBI:26092 phthalate CHEBI:26092 An endocrine disruptor that is phthalate, used to make plastics more flexible, they are also found in some food packaging, cosmetics, children’s toys, and medical devices. A family of benzene derivatives that are formed by esterification of phthalic acid. Phthalates are added to increase the flexibility and softness of commercial plastics, which are incorporated into a wide variety of consumer goods. Ingested phthalates may exhibit estrogenic or antiandrogenic effects or they may act as endocrine disruptors. url:https://www.niehs.nih.gov/health/topics/agents/endocrine/index.cfm CHEBI:26096 CHEBI:26096 phthalyl group CHEBI:26096 CHEBI:26151 piperidines CHEBI:26151 CHEBI:26191 polyol CHEBI:26191 CHEBI:26217 potassium molecular entity CHEBI:26217 CHEBI:26218 potassium salt CHEBI:26218 CHEBI:26401 purines CHEBI:26401 CHEBI:26421 pyridines CHEBI:26421 CHEBI:26509 quinoline alkaloid CHEBI:26509 CHEBI:26513 quinolines CHEBI:26513 CHEBI:26596 salicylates CHEBI:26596 CHEBI:26658 sesquiterpenoid CHEBI:26658 CHEBI:26712 sodium molecular entity CHEBI:26712 CHEBI:26714 sodium salt CHEBI:26714 CHEBI:2674 CHEBI:2674 amodiaquine CHEBI:2674 CHEBI:2676 CHEBI:2676 amoxicillin CHEBI:2676 CHEBI:26822 sulfide CHEBI:26822 CHEBI:26835 sulfur molecular entity CHEBI:26835 CHEBI:26873 terpenoid CHEBI:26873 CHEBI:26888 tetrachlorobenzene CHEBI:26888 CHEBI:26912 oxolanes CHEBI:26912 CHEBI:26961 thiophenes CHEBI:26961 CHEBI:26979 organic heterotricyclic compound CHEBI:26979 CHEBI:27026 toxin CHEBI:27026 CHEBI:27081 transition element atom CHEBI:27081 CHEBI:27171 organic heterobicyclic compound CHEBI:27171 CHEBI:27207 univalent carboacyl group CHEBI:27207 An N-acyl-amino acid that is a form of the water-soluble vitamin B9. Its biologically active forms (tetrahydrofolate and others) are essential for nucleotide biosynthesis and homocysteine remethylation. CHEBI:27470 folic acid CHEBI:27470 An N-acyl-amino acid that is a form of the water-soluble vitamin B9. Its biologically active forms (tetrahydrofolate and others) are essential for nucleotide biosynthesis and homocysteine remethylation. url:https://www.ncbi.nlm.nih.gov/books/NBK535377/ CHEBI:27561 CHEBI:27561 oxirane CHEBI:27561 A heavy metal that is arsenic, a heavy metal that is poisonous at low concentrations. NCIT:C28131 CHEBI:27563 arsenic CHEBI:27563 A heavy metal that is arsenic, a heavy metal that is poisonous at low concentrations. url:https://www.niehs.nih.gov/health/topics/agents/arsenic/index.cfm CHEBI:27638 A cobalt group element atom that has atomic number 27. CHEBI:27638 cobalt atom CHEBI:27638 A cobalt group element atom that has atomic number 27. url:https://en.wikipedia.org/wiki/Cobalt CHEBI:27933 beta-lactam antibiotic CHEBI:27933 CHEBI:28073 A heavy metal that is chromium, a chromium group element atom that has atomic number 24. CHEBI:28073 chromium atom CHEBI:28073 A heavy metal that is chromium, a chromium group element atom that has atomic number 24. url:https://en.wikipedia.org/wiki/Chromium CHEBI:28084 3-(carbamoyloxymethyl)cephalosporin CHEBI:28084 CHEBI:28112 CHEBI:28112 nickel atom CHEBI:28112 CHEBI:28593 CHEBI:28593 quinidine CHEBI:28593 A member of the class of acrylamides that results from the formal condensation of acrylic acid with ammonia. DRON:00723948 NCIT:C44329 OMIT:0020033 CHEBI:28619 acrylamide CHEBI:28619 A member of the class of acrylamides that results from the formal condensation of acrylic acid with ammonia. url:https://www.niehs.nih.gov/health/topics/agents/acrylamide/index.cf CHEBI:28876 CHEBI:28876 melphalan CHEBI:28876 CHEBI:29007 CHEBI:29007 ceftriaxone CHEBI:29007 CHEBI:29347 monocarboxylic acid amide CHEBI:29347 CHEBI:29864 mannitol CHEBI:29864 A metallic element first identified and named from the brilliant green line in its flame spectrum (from Greek thetaalphalambdalambdaomicronsigma, a green shoot). CHEBI:30440 thalium CHEBI:30440 A metallic element first identified and named from the brilliant green line in its flame spectrum (from Greek thetaalphalambdalambdaomicronsigma, a green shoot). url:https://en.wikipedia.org/wiki/Thallium url:https://www.cdc.gov/niosh/ershdb/emergencyresponsecard_29750026.html CHEBI:30746 CHEBI:30746 benzoic acid CHEBI:30746 A poison that is methylmercury. CHEBI:30785 methylmercury CHEBI:30785 A poison that is methylmercury. url:https://www.epa.gov/mercury/how-people-are-exposed-mercury#methylmercury CHEBI:30879 A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom. CHEBI:30879 alcohol CHEBI:30879 A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom. url:https://medlineplus.gov/alcohol.html CHEBI:31635 CHEBI:31635 neomycin sulfate CHEBI:31635 CHEBI:32876 tertiary amine CHEBI:32876 CHEBI:32952 amine CHEBI:32952 CHEBI:32955 epoxide CHEBI:32955 CHEBI:32988 amide CHEBI:32988 A bisphenol that is 4,4'-methanediyldiphenol in which the methylene hydrogens are replaced by two methyl groups. CHEBI:33216 bisphenol A CHEBI:33216 A bisphenol that is 4,4'-methanediyldiphenol in which the methylene hydrogens are replaced by two methyl groups. url:https://en.wikipedia.org/wiki/Bisphenol_A url:https://www.niehs.nih.gov/health/topics/agents/sya-bpa/index.cfm A bromobisphenol that is 4,4'-methanediyldiphenol in which the methylene hydrogens are replaced by two methyl groups and the phenyl rings are substituted by bromo groups at positions 2, 2', 6 and 6'. It is a brominated flame retardant. tetrabromobisphenol A CHEBI:33217 3,3',5,5'-tetrabromobisphenol A CHEBI:33217 A bromobisphenol that is 4,4'-methanediyldiphenol in which the methylene hydrogens are replaced by two methyl groups and the phenyl rings are substituted by bromo groups at positions 2, 2', 6 and 6'. It is a brominated flame retardant. url:https://www.niehs.nih.gov/health/topics/agents/flame_retardants/index.cfm A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. CHEBI:33229 vitamin CHEBI:33229 A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. url:https://en.wikipedia.org/wiki/Vitamin CHEBI:33232 application CHEBI:33232 CHEBI:33238 monoatomic entity CHEBI:33238 CHEBI:33241 oxoacid derivative CHEBI:33241 CHEBI:33242 inorganic hydride CHEBI:33242 CHEBI:33245 organic fundamental parent CHEBI:33245 CHEBI:33247 organic group CHEBI:33247 CHEBI:33249 organyl group CHEBI:33249 CHEBI:33250 atom CHEBI:33250 CHEBI:33256 primary amide CHEBI:33256 CHEBI:33259 elemental molecular entity CHEBI:33259 CHEBI:33261 organosulfur compound CHEBI:33261 A nutrient is a food component that an organism uses to survive and grow. NCIT:C157938 CHEBI:33284 nutrient CHEBI:33284 A nutrient is a food component that an organism uses to survive and grow. url:https://www.who.int/health-topics/micronutrients CHEBI:33285 heteroorganic entity CHEBI:33285 CHEBI:33296 alkali metal molecular entity CHEBI:33296 CHEBI:33302 pnictogen molecular entity CHEBI:33302 CHEBI:33304 chalcogen molecular entity CHEBI:33304 CHEBI:33308 carboxylic ester CHEBI:33308 CHEBI:33350 chromium group element atom CHEBI:33350 CHEBI:33358 cobalt group element atom CHEBI:33358 CHEBI:33362 nickel group element atom CHEBI:33362 CHEBI:33363 CHEBI:33363 palladium CHEBI:33363 CHEBI:33365 platinum group metal atom CHEBI:33365 CHEBI:33424 sulfur oxoacid derivative CHEBI:33424 CHEBI:33521 CHEBI:33521 metal atom CHEBI:33521 CHEBI:33552 sulfonic acid derivative CHEBI:33552 CHEBI:33561 d-block element atom CHEBI:33561 CHEBI:33575 carboxylic acid CHEBI:33575 CHEBI:33579 main group molecular entity CHEBI:33579 CHEBI:33582 carbon group molecular entity CHEBI:33582 CHEBI:33595 cyclic compound CHEBI:33595 CHEBI:33597 homocyclic compound CHEBI:33597 CHEBI:33598 carbocyclic compound CHEBI:33598 CHEBI:33608 hydrogen molecular entity CHEBI:33608 CHEBI:33635 polycyclic compound CHEBI:33635 CHEBI:33636 bicyclic compound CHEBI:33636 CHEBI:33655 aromatic compound CHEBI:33655 CHEBI:33659 organic aromatic compound CHEBI:33659 CHEBI:33661 monocyclic compound CHEBI:33661 CHEBI:33670 heteromonocyclic compound CHEBI:33670 CHEBI:33671 heteropolycyclic compound CHEBI:33671 CHEBI:33672 heterobicyclic compound CHEBI:33672 CHEBI:33674 s-block molecular entity CHEBI:33674 CHEBI:33675 p-block molecular entity CHEBI:33675 CHEBI:33692 hydrides CHEBI:33692 CHEBI:33702 polyatomic cation CHEBI:33702 CHEBI:33704 alpha-amino acid CHEBI:33704 CHEBI:33709 amino acid CHEBI:33709 CHEBI:33822 organic hydroxy compound CHEBI:33822 CHEBI:33832 organic cyclic compound CHEBI:33832 CHEBI:33833 heteroarene CHEBI:33833 CHEBI:33836 benzenoid aromatic compound CHEBI:33836 CHEBI:33853 phenols CHEBI:33853 CHEBI:33859 aromatic carboxylic acid CHEBI:33859 CHEBI:33860 aromatic amine CHEBI:33860 CHEBI:3387 CHEBI:3387 carbamazepine CHEBI:3387 CHEBI:33958 halide salt CHEBI:33958 CHEBI:34444 CHEBI:34444 4-tert-butylphenol CHEBI:34444 CHEBI:34718 CHEBI:34718 1-chloro-2,4-dinitrobenzene CHEBI:34718 CHEBI:3478 CHEBI:3478 cefaclor CHEBI:3478 CHEBI:3508 CHEBI:3508 ceftazidime CHEBI:3508 CHEBI:35106 nitrogen hydride CHEBI:35106 CHEBI:35107 azane CHEBI:35107 CHEBI:3515 CHEBI:3515 cefuroxime CHEBI:3515 CHEBI:35259 benzofurans CHEBI:35259 CHEBI:35267 quaternary ammonium ion CHEBI:35267 CHEBI:35274 ammonium ion derivative CHEBI:35274 CHEBI:35286 iminium ion CHEBI:35286 CHEBI:35341 steroid CHEBI:35341 CHEBI:35350 hydroxy steroid CHEBI:35350 CHEBI:35352 organonitrogen compound CHEBI:35352 CHEBI:35358 CHEBI:35358 sulfonamide CHEBI:35358 CHEBI:35362 hydrazide CHEBI:35362 CHEBI:35363 carbohydrazide CHEBI:35363 CHEBI:35410 primary diamine CHEBI:35410 A chloroarene that consists of a biphenyl skeleton substituted by one or more chloro groups. CHEBI:35446 chlorobiphenyl CHEBI:35446 A chloroarene that consists of a biphenyl skeleton substituted by one or more chloro groups. url:https://www.niehs.nih.gov/health/topics/agents/endocrine/index.cfm CHEBI:35467 phosphorodiamide CHEBI:35467 CHEBI:35479 CHEBI:35479 alkali metal salt CHEBI:35479 CHEBI:35507 natural product fundamental parent CHEBI:35507 CHEBI:35508 steroid fundamental parent CHEBI:35508 CHEBI:35509 androstane CHEBI:35509 CHEBI:355510 CHEBI:355510 cefotiam CHEBI:355510 CHEBI:35552 heterocyclic organic fundamental parent CHEBI:35552 CHEBI:35605 carbon oxoacid CHEBI:35605 CHEBI:35618 aromatic ether CHEBI:35618 CHEBI:35627 CHEBI:35627 beta-lactam CHEBI:35627 CHEBI:35681 secondary alcohol CHEBI:35681 CHEBI:35701 ester CHEBI:35701 CHEBI:35715 nitro compound CHEBI:35715 CHEBI:35716 C-nitro compound CHEBI:35716 CHEBI:35790 oxazole CHEBI:35790 CHEBI:35850 sulfone CHEBI:35850 CHEBI:35871 oxo monocarboxylic acid CHEBI:35871 CHEBI:35873 carboxylic anhydride CHEBI:35873 CHEBI:35875 imidazopyrimidine CHEBI:35875 CHEBI:35881 pnictogen hydride CHEBI:35881 CHEBI:35951 dioxo monocarboxylic acid CHEBI:35951 CHEBI:35992 penams CHEBI:35992 CHEBI:3614 CHEBI:3614 chlorhexidine CHEBI:3614 CHEBI:36181 succinate ester CHEBI:36181 CHEBI:36357 polyatomic entity CHEBI:36357 CHEBI:36358 polyatomic ion CHEBI:36358 CHEBI:36388 saturated organic heterocyclic parent CHEBI:36388 CHEBI:36389 saturated organic heteromonocyclic parent CHEBI:36389 CHEBI:36586 carbonyl compound CHEBI:36586 CHEBI:36587 organic oxo compound CHEBI:36587 CHEBI:36605 CHEBI:36605 phthalic anhydride CHEBI:36605 CHEBI:36606 CHEBI:36606 acid anhydride CHEBI:36606 CHEBI:36607 cyclic acid anhydride CHEBI:36607 CHEBI:36609 cyclic dicarboxylic anhydride CHEBI:36609 CHEBI:36683 organochlorine compound CHEBI:36683 CHEBI:36688 heterotricyclic compound CHEBI:36688 CHEBI:36709 aminoquinoline CHEBI:36709 CHEBI:36816 oxime O-ether CHEBI:36816 CHEBI:36834 3-hydroxy steroid CHEBI:36834 CHEBI:36835 3alpha-hydroxy steroid CHEBI:36835 CHEBI:36914 inorganic ion CHEBI:36914 CHEBI:36915 inorganic cation CHEBI:36915 CHEBI:36916 cation CHEBI:36916 CHEBI:36962 organochalcogen compound CHEBI:36962 CHEBI:36963 organooxygen compound CHEBI:36963 CHEBI:37175 organic hydride CHEBI:37175 CHEBI:37176 mononuclear parent hydride CHEBI:37176 CHEBI:37407 cyclic ether CHEBI:37407 CHEBI:37533 azo compound CHEBI:37533 CHEBI:37577 heteroatomic molecular entity CHEBI:37577 CHEBI:37578 halide CHEBI:37578 CHEBI:37598 nitrogen mustard CHEBI:37598 CHEBI:37622 carboxamide CHEBI:37622 CHEBI:37667 sesquiterpene lactone CHEBI:37667 CHEBI:37668 terpene lactone CHEBI:37668 CHEBI:3770 CHEBI:3770 co-trimoxazole CHEBI:3770 CHEBI:37838 carboacyl group CHEBI:37838 CHEBI:38001 2,6-diaminopurines CHEBI:38001 CHEBI:38101 organonitrogen heterocyclic compound CHEBI:38101 CHEBI:38102 triazines CHEBI:38102 CHEBI:38104 oxacycle CHEBI:38104 CHEBI:38106 organosulfur heterocyclic compound CHEBI:38106 CHEBI:38166 organic heteropolycyclic compound CHEBI:38166 CHEBI:38179 monocyclic heteroarene CHEBI:38179 CHEBI:38260 pyrrolidines CHEBI:38260 CHEBI:38261 imidazolidines CHEBI:38261 CHEBI:38265 carvone CHEBI:38265 CHEBI:38304 diazolidine CHEBI:38304 CHEBI:38311 cephem CHEBI:38311 CHEBI:38313 diazines CHEBI:38313 CHEBI:38337 pyrimidone CHEBI:38337 CHEBI:38338 aminopyrimidine CHEBI:38338 CHEBI:38418 1,3-thiazoles CHEBI:38418 CHEBI:38700 organic sodium salt CHEBI:38700 CHEBI:38785 morpholines CHEBI:38785 CHEBI:38831 2-benzofurans CHEBI:38831 CHEBI:39410 1,2,4-triazines CHEBI:39410 CHEBI:39447 pyrimidines CHEBI:39447 CHEBI:4027 CHEBI:4027 cyclophosphamide CHEBI:4027 An olefinic compound that is trans-hex-3-ene in which the hydrogens at positions 3 and 4 have been replaced by p-hydroxyphenyl groups. CHEBI:41922 diethylstilbestrol CHEBI:41922 An olefinic compound that is trans-hex-3-ene in which the hydrogens at positions 3 and 4 have been replaced by p-hydroxyphenyl groups. url:https://en.wikipedia.org/wiki/Diethylstilbestrol url:https://www.cdc.gov/des/consumers/about/index.html CHEBI:421707 CHEBI:421707 abacavir CHEBI:421707 CHEBI:43968 CHEBI:43968 meropenem CHEBI:43968 CHEBI:45652 CHEBI:45652 succinylcholine CHEBI:45652 CHEBI:45924 CHEBI:45924 trimethoprim CHEBI:45924 CHEBI:46633 CHEBI:46633 carbapenems CHEBI:46633 CHEBI:46634 carbapenemcarboxylic acid CHEBI:46634 Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements. NCIT:C284 CHEBI:46661 asbestos CHEBI:46661 Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements. url:https://medlineplus.gov/asbestos.html CHEBI:46770 pyrrolidinecarboxamide CHEBI:46770 CHEBI:46952 oxazinane CHEBI:46952 CHEBI:47016 tetrahydrofuranone CHEBI:47016 CHEBI:47022 tetrahydrofurandione CHEBI:47022 CHEBI:472657 CHEBI:472657 cefixime CHEBI:472657 CHEBI:47381 CHEBI:47381 diclofenac CHEBI:47381 CHEBI:474859 CHEBI:474859 maleic anhydride CHEBI:474859 CHEBI:47622 acetate ester CHEBI:47622 CHEBI:47804 dibenzoazepine CHEBI:47804 CHEBI:47857 ureas CHEBI:47857 CHEBI:48369 organic bromide salt CHEBI:48369 CHEBI:48592 piperidinecarboxamide CHEBI:48592 CHEBI:488385 CHEBI:488385 alcuronium bromide CHEBI:488385 CHEBI:48901 thiazoles CHEBI:48901 CHEBI:48960 bis(azo) compound CHEBI:48960 CHEBI:48975 substituted aniline CHEBI:48975 A monovalent inorganic anion obtained by deprotonation of perchloric acid. CHEBI:49706 percholrate CHEBI:49706 A monovalent inorganic anion obtained by deprotonation of perchloric acid. url:https://www.niehs.nih.gov/health/topics/agents/endocrine/index.cfm CHEBI:50047 organic amino compound CHEBI:50047 CHEBI:503442 CHEBI:503442 gallamine CHEBI:503442 CHEBI:50492 thiocarbonyl compound CHEBI:50492 CHEBI:50695 monobactam CHEBI:50695 CHEBI:50858 CHEBI:50858 corticosteroid CHEBI:50858 CHEBI:50860 organic molecular entity CHEBI:50860 CHEBI:50893 azaarene CHEBI:50893 A chemical compound, or part thereof, which causes the onset of an allergic reaction by interacting with any of the molecular pathways involved in an allergy. CHEBI:50904 allergen CHEBI:50904 A chemical compound, or part thereof, which causes the onset of an allergic reaction by interacting with any of the molecular pathways involved in an allergy. url:https://www.niehs.nih.gov/health/topics/agents/allergens/ CHEBI:50906 CHEBI:50906 role CHEBI:50906 CHEBI:50995 secondary amino compound CHEBI:50995 CHEBI:50996 tertiary amino compound CHEBI:50996 CHEBI:51069 organic halide salt CHEBI:51069 CHEBI:51143 nitrogen molecular entity CHEBI:51143 CHEBI:51276 thioureas CHEBI:51276 CHEBI:51323 cinchona alkaloid CHEBI:51323 CHEBI:51402 phenylenediamine CHEBI:51402 CHEBI:51403 CHEBI:51403 1,4-phenylenediamine CHEBI:51403 CHEBI:51447 organic univalent group CHEBI:51447 CHEBI:51683 methoxybenzenes CHEBI:51683 CHEBI:51958 organic polycyclic compound CHEBI:51958 CHEBI:51959 organic tricyclic compound CHEBI:51959 CHEBI:52217 pharmaceutical CHEBI:52217 CHEBI:53018 CHEBI:53018 2,4-dinitrophenyl group CHEBI:53018 CHEBI:53050 CHEBI:53050 trimellitic anhydride CHEBI:53050 CHEBI:53212 Organonitrogen compounds that are derivatives of isocyanic acid; compounds containing the isocyanate functional group -N=C=O. CHEBI:53212 isocyanates CHEBI:53212 Organonitrogen compounds that are derivatives of isocyanic acid; compounds containing the isocyanate functional group -N=C=O. url:http://www.osha.gov/isocyanates CHEBI:53213 diisocyanate CHEBI:53213 CHEBI:53218 A diisocyanate consisting of diphenylmethane with two isocyanate groups at the 4- and 4'-positions. CHEBI:53218 diphenylmethane-4,4'-diisocyanate CHEBI:53218 A diisocyanate consisting of diphenylmethane with two isocyanate groups at the 4- and 4'-positions. url:https://en.wikipedia.org/wiki/Methylene_diphenyl_diisocyanate CHEBI:53444 CHEBI:53444 potassium dichromate CHEBI:53444 CHEBI:53555 CHEBI:53555 toluene meta-diisocyanate CHEBI:53555 CHEBI:53556 CHEBI:53556 toluene 2,4-diisocyanate CHEBI:53556 CHEBI:53578 CHEBI:53578 hexamethylene diisocyanate CHEBI:53578 CHEBI:53662 biguanides CHEBI:53662 CHEBI:53731 CHEBI:53731 remazole black-GR CHEBI:53731 CHEBI:53767 CHEBI:53767 chloramine T CHEBI:53767 CHEBI:5516 CHEBI:5516 sodium aurothiomalate CHEBI:5516 CHEBI:55370 imidazolidinone CHEBI:55370 CHEBI:55373 isoxazoles CHEBI:55373 Any metal that is characterized by its rather high atomic mass and density. Although typically occurring in low concentrations, they can be found all throughout the Earth's crust (Commonly, a density of at least 5 g cm(3) is used to define a heavy metal and to differentiate it from other, ''light'' metals). OMIT:0019292 CHEBI:5631 heavy metal CHEBI:5631 Any metal that is characterized by its rather high atomic mass and density. Although typically occurring in low concentrations, they can be found all throughout the Earth's crust (Commonly, a density of at least 5 g cm(3) is used to define a heavy metal and to differentiate it from other, ''light'' metals). url:https://en.wikipedia.org/wiki/Heavy_metals url:https://www.lenntech.com/processes/heavy/heavy-metals/heavy-metals.htm#ixzz6s7SaXlej CHEBI:5686 heterocyclic compound CHEBI:5686 CHEBI:59001 CHEBI:59001 4-vinylcyclohexene dioxide CHEBI:59001 CHEBI:59059 CHEBI:59059 methyl isocyanate CHEBI:59059 CHEBI:59097 CHEBI:59097 tetrachlorophthalic anhydride CHEBI:59097 CHEBI:59601 CHEBI:59601 patent blue V CHEBI:59601 CHEBI:59999 chemical substance CHEBI:59999 CHEBI:60004 mixture CHEBI:60004 CHEBI:6030 CHEBI:6030 isoniazide CHEBI:6030 CHEBI:6128 CHEBI:6128 ketoprofen CHEBI:6128 CHEBI:6456 CHEBI:6456 lidocaine CHEBI:6456 CHEBI:64708 one-carbon compound CHEBI:64708 CHEBI:64709 organic acid CHEBI:64709 Any substance that causes disturbance to organisms by chemical reaction or other activity on the molecular scale, when a sufficient quantity is absorbed by the organism. CHEBI:64909 poison CHEBI:64909 Any substance that causes disturbance to organisms by chemical reaction or other activity on the molecular scale, when a sufficient quantity is absorbed by the organism. url:https://en.wikipedia.org/wiki/Poison url:https://medlineplus.gov/poisoning.html CHEBI:6759 CHEBI:6759 mepivacaine CHEBI:6759 CHEBI:68452 azole CHEBI:68452 CHEBI:72588 semisynthetic derivative CHEBI:72588 CHEBI:72695 organic molecule CHEBI:72695 CHEBI:76224 aromatic ketone CHEBI:76224 Any compound produced by a plant that happens to have estrogenic activity. CHEBI:76989 phytoestrogen CHEBI:76989 Any compound produced by a plant that happens to have estrogenic activity. url:https://en.wikipedia.org/wiki/Phytoestrogen url:https://www.niehs.nih.gov/health/topics/agents/endocrine/index.cfm CHEBI:78616 carbohydrates and carbohydrate derivatives CHEBI:78616 CHEBI:79020 alpha,beta-unsaturated monocarboxylic acid CHEBI:79020 Any compound that is added to manufactured materials to inhibit, suppress, or delay the production of flames and so prevent the spread of fire. CHEBI:79314 flame retardant CHEBI:79314 Any compound that is added to manufactured materials to inhibit, suppress, or delay the production of flames and so prevent the spread of fire. url:https://www.niehs.nih.gov/health/topics/agents/flame_retardants/index.cfm CHEBI:7939 CHEBI:7939 parthenolide CHEBI:7939 CHEBI:8069 CHEBI:8069 phenobarbital CHEBI:8069 CHEBI:8107 CHEBI:8107 phenytoin CHEBI:8107 CHEBI:8232 CHEBI:8232 piperacillin CHEBI:8232 CHEBI:82448 CHEBI:82448 N,N'-diethylthiourea CHEBI:82448 CHEBI:83403 monochlorobenzenes CHEBI:83403 CHEBI:83811 proteinogenic amino acid derivative CHEBI:83811 CHEBI:83820 non-proteinogenic amino acid CHEBI:83820 CHEBI:83821 amino-acid derivative CHEBI:83821 CHEBI:83822 non-proteinogenic L-alpha-amino acid CHEBI:83822 CHEBI:83925 non-proteinogenic alpha-amino acid CHEBI:83925 CHEBI:84144 L-phenylalanine derivative CHEBI:84144 CHEBI:86494 botanical anti-fungal agent CHEBI:86494 CHEBI:87228 sulfonamide antibiotic CHEBI:87228 CHEBI:8776 CHEBI:8776 ranitidine CHEBI:8776 CHEBI:88061 polyamine CHEBI:88061 CHEBI:88184 metal allergen CHEBI:88184 CHEBI:88187 penicillin allergen CHEBI:88187 CHEBI:88225 beta-lactam antibiotic allergen CHEBI:88225 CHEBI:8884 CHEBI:8884 rocuronium CHEBI:8884 CHEBI:9332 CHEBI:9332 sulfamethoxazole CHEBI:9332 CHEBI:9334 CHEBI:9334 sulfasalazine CHEBI:9334 CHEBI:9362 CHEBI:9362 suprofen CHEBI:9362 A chemical driver that acts primarily by inhibiting both the production of tumor necrosis factor alpha (TNF-alpha) in stimulated peripheral monocytes and the activities of interleukins and interferons and also inhibits polymorphonuclear chemotaxis and monocyte phagocytosis. CHEBI:9513 thalidomide CHEBI:9513 A chemical driver that acts primarily by inhibiting both the production of tumor necrosis factor alpha (TNF-alpha) in stimulated peripheral monocytes and the activities of interleukins and interferons and also inhibits polymorphonuclear chemotaxis and monocyte phagocytosis. url:https://en.wikipedia.org/wiki/Thalidomide CHEBI:9774 CHEBI:9774 tubocurarine CHEBI:9774 CL:0000000 CL:0000000 cell CL:0000015 male germ cell CL:0000019 sperm CL:0000021 female germ cell CL:0000025 egg cell neural crest derived neuron stem cell single fate stem cell epithelial fate stem cell germ line cell CL:0000055 non-terminally differentiated cell CL:0000057 fibroblast CL:0000058 chondroblast CL:0000062 osteoblast ciliated cell ependymal cell CL:0000066 epithelial cell ciliated epithelial cell duct epithelial cell columnar/cuboidal epithelial cell CL:0000076 squamous epithelial cell mesothelial cell stratified epithelial cell blood cell epithelial cell of pancreas CL:0000084 T cell granulocyte neuron associated cell CL:0000097 mast cell CL:0000100 motor neuron mononuclear phagocyte CL:0000115 endothelial cell neuron associated cell (sensu Vertebrata) CL:0000125 glial cell macroglial cell astrocyte CL:0000128 oligodendrocyte fibrocyte CL:0000136 adipocyte CL:0000138 chondrocyte professional antigen presenting cell pigment cell CL:0000148 melanocyte CL:0000150 glandular secretory epithelial cell CL:0000151 secretory cell exocrine cell glycosaminoglycan secreting cell protein secreting cell endocrine cell CL:0000165 neuroendocrine cell chromaffin cell peptide hormone secreting cell steroid hormone secreting cell hepatocyte contractile cell CL:0000185 myoepithelial cell CL:0000187 muscle cell CL:0000192 smooth muscle cell electrically active cell Sertoli cell motile cell CL:0000221 ectodermal cell CL:0000222 mesodermal cell CL:0000223 endodermal cell anucleate cell single nucleate cell CL:0000232 erythrocyte CL:0000233 platelet phagocyte macrophage CL:0000236 B cell keratinizing barrier epithelial cell stratified squamous epithelial cell CL:0000242 Merkel cell CL:0000244 transitional epithelial cell eukaryotic cell gamete keratin accumulating cell keratinocyte stuff accumulating cell extracellular matrix secreting cell oxygen accumulating cell extraembryonic cell CL:0000351 trophoblast cell epidermal cell electrically responsive cell electrically signaling cell male gamete polyploid cell haploid cell endopolyploid cell CL:0000442 follicular dendritic cell calcitonin secreting cell chief cell of parathyroid gland carbohydrate secreting cell dendritic cell CL:0000453 Langerhans cell biogenic amine secreting cell serotonin secreting cell adrenocorticotropic hormone secreting cell CL:0000499 stromal cell CL:0000500 follicular epithelial cell granulosa cell theca cell androgen binding protein secreting cell phagocyte (sensu Vertebrata) efferent neuron pigmented epithelial cell CL:0000540 neuron CL:0000542 lymphocyte amine precursor uptake and decarboxylation cell CL:0000570 parafollicular cell CL:0000586 germ cell CL:0000622 acinar cell CL:0000623 natural killer cell supporting cell chromophil cell of anterior pituitary gland basophil cell of pars distalis of adenohypophysis chromophobe cell CL:0000646 basal cell collagen secreting cell pericyte primordial germ cell female gamete neurecto-epithelial cell somatic stem cell CL:0000738 leukocyte myeloid cell erythroid lineage cell myeloid leukocyte CL:0000767 basophil CL:0000771 eosinophil mature B cell CL:0000786 plasma cell mononuclear leukocyte marginal zone B cell of spleen CL:0000945 lymphocyte of B lineage antibody secreting cell CL:0000988 hematopoietic cell conventional dendritic cell abnormal cell neoplastic cell malignant cell innate lymphoid cell group 1 innate lymphoid cell lymphocyte of B lineage, CD19-positive B cell, CD19-positive CL:0002064 pancreatic acinar cell endo-epithelial cell ecto-epithelial cell meso-epithelial cell stromal cell of ovary CL:0002150 epithelioid macrophage general ecto-epithelial cell follicular cell of ovary squamous cell of epidermis nucleate cell epithelial cell of parathyroid gland histamine secreting cell pigmented ciliary epithelial cell CL:0002309 corticotroph neural cell connective tissue cell CL:0002321 embryonic cell (metazoa) CL:0002418 hemangioblast CL:0002573 Schwann cell seminiferous tubule epithelial cell non-striated muscle cell visceral muscle cell CL:0008019 mesenchymal cell mural cell CL:0009004 retinal cell progenitor cell precursor cell epithelial cell of exocrine pancreas parathyroid glandular cell pancreas exocrine glandular cell secretory epithelial cell CL:2000004 pituitary gland cell CL:2000004 CL:2000064 CL:2000064 ovarian surface epithelial cell CL:2000064 CL:2000074 splenocyte CL:2000074 myelinating glial cell perivascular cell Environmental or genetic mechanisms driving the occurrance of complex diseases. DISDRIV:0000000 disease driver DISDRIV:0000000 Environmental or genetic mechanisms driving the occurrance of complex diseases. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC4517741/ A disease driver that is comprised of a shortage of a nutrient. DISDRIV:0000001 nutrient deficiency DISDRIV:0000001 A disease driver that is comprised of a shortage of a nutrient. url:https://www.who.int/health-topics/micronutrients A disease driver that is related to or concerning the interaction of social and economic factors. DISDRIV:0000002 socioeconomic driver DISDRIV:0000002 A disease driver that is related to or concerning the interaction of social and economic factors. url:https://pubmed.ncbi.nlm.nih.gov/29709281/ A disease driver that is of biological origin. DISDRIV:0000003 biological driver DISDRIV:0000003 A disease driver that is of biological origin. url:https://www.ncbi.nlm.nih.gov/books/NBK45737/ A nutrient deficiency of vitamin B7 (biotin) foods like eggs, milk, and bananas. DISDRIV:0000004 deficiency of biotin DISDRIV:0000004 A nutrient deficiency of vitamin B7 (biotin) foods like eggs, milk, and bananas. url:https://ods.od.nih.gov/factsheets/Biotin-Consumer/ A nutrient deficiency. DISDRIV:0000005 deficiency of choline DISDRIV:0000005 A nutrient deficiency. url:https://ods.od.nih.gov/factsheets/Choline-Consumer/ url:url:https://ods.od.nih.gov/factsheets/Choline-HealthProfessional/ A disease driver that is a chemical. DISDRIV:0000006 chemical driver DISDRIV:0000006 A disease driver that is a chemical. url:https://pubmed.ncbi.nlm.nih.gov/29351546/ DISDRIV:0000007 deficiency of vitamin C DISDRIV:0000007 A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels. DOID:267 DOID:4508 ICDO:9120/3 MESH:D006394 NCI:C3088 NCI:C9275 SNOMEDCT_US_2023_03_01:39000009 UMLS_CUI:C0018923 UMLS_CUI:C0854893 hemangiosarcoma disease_ontology DOID:0001816 angiosarcoma DOID:0001816 A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels. url:http://en.wikipedia.org/wiki/Hemangiosarcoma url:https://en.wikipedia.org/wiki/Angiosarcoma url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3088 url:https://www.ncbi.nlm.nih.gov/pubmed/23327728 A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation. laronhughes 2010-06-30T02:44:30Z UMLS_CUI:C0033999 surfer's eye disease_ontology DOID:0002116 pterygium DOID:0002116 A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation. url:https://en.wikipedia.org/wiki/Pterygium_(conjunctiva) A disease that involves errors in metabolic processes of building or degradation of molecules. ICD10CM:E88.9 ICD9CM:277.9 MESH:D008659 NCI:C3235 SNOMEDCT_US_2023_03_01:75934005 UMLS_CUI:C0025517 metabolic disease disease_ontology DOID:0014667 disease of metabolism DOID:0014667 A disease that involves errors in metabolic processes of building or degradation of molecules. url:http://www.ncbi.nlm.nih.gov/books/NBK22259/ A crustacean allergy that has_allergic_trigger shrimp. disease_ontology DOID:0040001 shrimp allergy DOID:0040001 A crustacean allergy that has_allergic_trigger shrimp. url:https://www.ncbi.nlm.nih.gov/pubmed/20471069 IEDB:RV A drug allergy that has_allergic_trigger acetylsalicylic acid. SNOMEDCT_US_2023_03_01:293586001 UMLS_CUI:C0004058 ASA allergy acetylsalicylic acid allergy disease_ontology DOID:0040002 aspirin allergy DOID:0040002 A drug allergy that has_allergic_trigger acetylsalicylic acid. url:https://www.ncbi.nlm.nih.gov/pubmed/2468301 IEDB:RV A beta-lactam allergy that has_allergic_trigger benzylpenicillin. SNOMEDCT_US_2023_03_01:294499007 UMLS_CUI:C0571411 benzyl penicillin allergy penicillin G allergy disease_ontology DOID:0040003 benzylpenicillin allergy DOID:0040003 A beta-lactam allergy that has_allergic_trigger benzylpenicillin. url:https://www.ncbi.nlm.nih.gov/pubmed/14483916 IEDB:RV A beta-lactam allergy that has_allergic_trigger amoxicillin. SNOMEDCT_US_2023_03_01:294505008 UMLS_CUI:C0571417 disease_ontology DOID:0040004 amoxicillin allergy DOID:0040004 A beta-lactam allergy that has_allergic_trigger amoxicillin. url:https://www.ncbi.nlm.nih.gov/pubmed/11746950 IEDB:RV A cephalosporin allergy that has_allergic_trigger ceftriaxone. SNOMEDCT_US_2023_03_01:294551009 UMLS_CUI:C0571463 rocephin allergy disease_ontology DOID:0040005 ceftriaxone allergy DOID:0040005 A cephalosporin allergy that has_allergic_trigger ceftriaxone. url:https://www.ncbi.nlm.nih.gov/pubmed/12833570 IEDB:RV A drug allergy that has_allergic_trigger carbamazepine. SNOMEDCT_US_2023_03_01:293867002 UMLS_CUI:C0570787 Tegretol allergy carbamazepen allergy disease_ontology DOID:0040006 carbamazepine allergy DOID:0040006 A drug allergy that has_allergic_trigger carbamazepine. url:https://www.ncbi.nlm.nih.gov/pubmed/7602118 IEDB:RV A drug allergy that has_allergic_trigger abacavir. ABC allergy disease_ontology DOID:0040007 abacavir allergy DOID:0040007 A drug allergy that has_allergic_trigger abacavir. url:https://www.ncbi.nlm.nih.gov/pubmed/25674793 IEDB:RV A drug allergy that has_allergic_trigger isoniazide. ICD10CM:Z88.1 INH allergy isonicotinylhydrazide allergy disease_ontology DOID:0040008 isoniazide allergy DOID:0040008 A drug allergy that has_allergic_trigger isoniazide. url:https://www.ncbi.nlm.nih.gov/pubmed/445303 IEDB:RV A drug allergy that has_allergic_trigger lidocaine. SNOMEDCT_US_2023_03_01:293722000 UMLS_CUI:C0570646 Lidoderm allergy lignocaine allergy xylocaine allergy disease_ontology DOID:0040009 lidocaine allergy DOID:0040009 A drug allergy that has_allergic_trigger lidocaine. url:https://www.ncbi.nlm.nih.gov/pubmed/9013953 IEDB:RV A drug allergy that has_allergic_trigger mepivacaine. ICD10CM:Z88.4 Carbocaine allergy Polocaine allergy disease_ontology DOID:0040010 mepivacaine allergy DOID:0040010 A drug allergy that has_allergic_trigger mepivacaine. url:https://www.ncbi.nlm.nih.gov/pubmed/9989796 IEDB:RV A drug allergy that has_allergic_trigger phenobarbital. SNOMEDCT_US_2023_03_01:293865005 UMLS_CUI:C0570785 Luminal allergy phenobarbitol allergy phenobarbitone allergy disease_ontology DOID:0040011 phenobarbital allergy DOID:0040011 A drug allergy that has_allergic_trigger phenobarbital. url:https://www.ncbi.nlm.nih.gov/pubmed/11994495 IEDB:RV A drug allergy that has_allergic_trigger phenytoin. SNOMEDCT_US_2023_03_01:293869004 UMLS_CUI:C0570789 Dilantin allergy disease_ontology DOID:0040012 phenytoin allergy DOID:0040012 A drug allergy that has_allergic_trigger phenytoin. url:https://www.ncbi.nlm.nih.gov/pubmed/7602118 IEDB:RV A drug allergy that has_allergic_trigger ranitidine. SNOMEDCT_US_2023_03_01:293653009 UMLS_CUI:C0570577 Zantac allergy disease_ontology DOID:0040013 ranitidine allergy DOID:0040013 A drug allergy that has_allergic_trigger ranitidine. url:https://www.ncbi.nlm.nih.gov/pubmed/7782125 IEDB:RV A drug allergy that has_allergic_trigger corticosteroid. disease_ontology DOID:0040014 corticosteroid allergy DOID:0040014 A drug allergy that has_allergic_trigger corticosteroid. url:https://www.ncbi.nlm.nih.gov/pubmed/2265088 IEDB:RV A drug allergy that has_allergic_trigger sulfonamide. SNOMEDCT_US_2023_03_01:91939003 UMLS_CUI:C0038757 disease_ontology DOID:0040015 sulfonamide allergy DOID:0040015 A drug allergy that has_allergic_trigger sulfonamide. url:https://www.ncbi.nlm.nih.gov/pubmed/2434548 IEDB:RV A drug allergy that has_allergic_trigger sulfamethoxazole. SMX allergy SMZ allergy sulphamethoxazole allergy disease_ontology DOID:0040016 sulfamethoxazole allergy DOID:0040016 A drug allergy that has_allergic_trigger sulfamethoxazole. url:https://www.ncbi.nlm.nih.gov/pubmed/7602118 IEDB:RV A drug allergy that has_allergic_trigger suprofen. Profenal allergy disease_ontology DOID:0040017 suprofen allergy DOID:0040017 A drug allergy that has_allergic_trigger suprofen. url:https://www.ncbi.nlm.nih.gov/pubmed/509935 IEDB:RV A drug allergy that has_allergic_trigger thiopental. SNOMEDCT_US_2023_03_01:293709008 UMLS_CUI:C0570633 penthiobarbital allergy pentothiobarbital allergy disease_ontology DOID:0040018 thiopental allergy DOID:0040018 A drug allergy that has_allergic_trigger thiopental. url:https://www.ncbi.nlm.nih.gov/pubmed/2215478 IEDB:RV A drug allergy that has_allergic_trigger D-mannitol. SNOMEDCT_US_2023_03_01:295019008 UMLS_CUI:C0571922 mannitol allergy disease_ontology DOID:0040019 D-mannitol allergy DOID:0040019 A drug allergy that has_allergic_trigger D-mannitol. url:https://www.ncbi.nlm.nih.gov/pubmed/15479277 IEDB:RV A cephalosporin allergy that has_allergic_trigger cefotaxime. SNOMEDCT_US_2023_03_01:294545004 UMLS_CUI:C0571457 disease_ontology DOID:0040020 cefotaxime allergy DOID:0040020 A cephalosporin allergy that has_allergic_trigger cefotaxime. url:https://www.ncbi.nlm.nih.gov/pubmed/12833570 IEDB:RV A drug allergy that has_allergic_trigger cephalosporin. SNOMEDCT_US_2023_03_01:294532003 UMLS_CUI:C0571444 disease_ontology DOID:0040021 cephalosporin allergy DOID:0040021 A drug allergy that has_allergic_trigger cephalosporin. url:https://www.ncbi.nlm.nih.gov/pubmed/2083978 IEDB:RV A drug allergy that has_allergic_trigger amodiaquine. SNOMEDCT_US_2023_03_01:294390007 UMLS_CUI:C0571303 Camoquin allergy Flavoquine allergy disease_ontology DOID:0040022 amodiaquine allergy DOID:0040022 A drug allergy that has_allergic_trigger amodiaquine. url:https://www.ncbi.nlm.nih.gov/pubmed/1959977 IEDB:RV A cephalosporin allergy that has_allergic_trigger cefaclor. SNOMEDCT_US_2023_03_01:294541008 UMLS_CUI:C0571453 Ceclor allergy cephaclor allergy disease_ontology DOID:0040023 cefaclor allergy DOID:0040023 A cephalosporin allergy that has_allergic_trigger cefaclor. url:https://www.ncbi.nlm.nih.gov/pubmed/12569987 IEDB:RV A cephalosporin allergy that has_allergic_trigger ceftazidime. SNOMEDCT_US_2023_03_01:294546003 UMLS_CUI:C0571458 Fortaz allergy Tazicef allergy disease_ontology DOID:0040024 ceftazidime allergy DOID:0040024 A cephalosporin allergy that has_allergic_trigger ceftazidime. url:https://www.ncbi.nlm.nih.gov/pubmed/12833570 IEDB:RV A cephalosporin allergy that has_allergic_trigger cefuroxime. SNOMEDCT_US_2023_03_01:294542001 UMLS_CUI:C0571454 Zinacef allergy cephuroxime allergy disease_ontology DOID:0040025 cefuroxime allergy DOID:0040025 A cephalosporin allergy that has_allergic_trigger cefuroxime. url:https://www.ncbi.nlm.nih.gov/pubmed/12833570 IEDB:RV A drug allergy that has_allergic_trigger chlorhexidine. SNOMEDCT_US_2023_03_01:294431008 UMLS_CUI:C0571344 disease_ontology DOID:0040026 chlorhexidine allergy DOID:0040026 A drug allergy that has_allergic_trigger chlorhexidine. url:https://www.ncbi.nlm.nih.gov/pubmed/10848923 IEDB:RV A drug allergy that has_allergic_trigger cyclophosphamide. SNOMEDCT_US_2023_03_01:293748008 UMLS_CUI:C0570670 cytophosphane allergy disease_ontology DOID:0040027 cyclophosphamide allergy DOID:0040027 A drug allergy that has_allergic_trigger cyclophosphamide. url:https://www.ncbi.nlm.nih.gov/pubmed/8024619 IEDB:RV A drug allergy that has_allergic_trigger succinylcholine. SNOMEDCT_US_2023_03_01:294224007 UMLS_CUI:C0571140 dicholine succinate allergy succinocholine allergy sux allergy suxamethonium allergy disease_ontology DOID:0040028 succinylcholine allergy DOID:0040028 A drug allergy that has_allergic_trigger succinylcholine. url:https://www.ncbi.nlm.nih.gov/pubmed/2410473 IEDB:RV A drug allergy that has_allergic_trigger trimethoprim. SNOMEDCT_US_2023_03_01:294477004 UMLS_CUI:C0571390 Primsol allergy TMP allergy proloprim allergy disease_ontology DOID:0040029 trimethoprim allergy DOID:0040029 A drug allergy that has_allergic_trigger trimethoprim. url:https://www.ncbi.nlm.nih.gov/pubmed/3377143 IEDB:RV A cephalosporin allergy that has_allergic_trigger cefixime. SNOMEDCT_US_2023_03_01:294548002 UMLS_CUI:C0571460 disease_ontology DOID:0040030 cefixime allergy DOID:0040030 A cephalosporin allergy that has_allergic_trigger cefixime. url:https://www.ncbi.nlm.nih.gov/pubmed/16867046 IEDB:RV A drug allergy that has_allergic_trigger diclofenac. SNOMEDCT_US_2023_03_01:293613006 UMLS_CUI:C0570540 Voltaren allergy disease_ontology DOID:0040031 diclofenac allergy DOID:0040031 A drug allergy that has_allergic_trigger diclofenac. url:https://www.ncbi.nlm.nih.gov/pubmed/21060839 IEDB:RV A drug allergy that has_allergic_trigger carbapenems. SNOMEDCT_US_2023_03_01:294531005 UMLS_CUI:C0571443 disease_ontology DOID:0040032 carbapenem allergy DOID:0040032 A drug allergy that has_allergic_trigger carbapenems. url:https://www.ncbi.nlm.nih.gov/pubmed/2457043 IEDB:RV A beta-lactam allergy that has_allergic_trigger piperacillin. SNOMEDCT_US_2023_03_01:294515002 UMLS_CUI:C0571427 disease_ontology DOID:0040033 piperacillin allergy DOID:0040033 A beta-lactam allergy that has_allergic_trigger piperacillin. url:https://www.ncbi.nlm.nih.gov/pubmed/21532862 IEDB:RV A drug allergy that has_allergic_trigger rocuronium. SNOMEDCT_US_2023_03_01:294233009 UMLS_CUI:C0571149 Esmeron allergy Zemuron allergy disease_ontology DOID:0040034 rocuronium allergy DOID:0040034 A drug allergy that has_allergic_trigger rocuronium. url:https://www.ncbi.nlm.nih.gov/pubmed/17667569 IEDB:RV A drug allergy that has_allergic_trigger sulfasalazine. SNOMEDCT_US_2023_03_01:293663001 UMLS_CUI:C0570587 disease_ontology DOID:0040035 sulfasalazine allergy DOID:0040035 A drug allergy that has_allergic_trigger sulfasalazine. url:https://www.ncbi.nlm.nih.gov/pubmed/2434548 IEDB:RV A drug allergy that has_allergic_trigger tubocurarine. SNOMEDCT_US_2023_03_01:294231006 UMLS_CUI:C0571147 DTC allergy disease_ontology DOID:0040036 tubocurarine allergy DOID:0040036 A drug allergy that has_allergic_trigger tubocurarine. url:https://www.ncbi.nlm.nih.gov/pubmed/2215478 IEDB:RV A beta-lactam allergy that has_allergic_trigger aztreonam. SNOMEDCT_US_2023_03_01:294565006 UMLS_CUI:C0571476 Azactam allergy Primbactam allergy disease_ontology DOID:0040037 aztreonam allergy DOID:0040037 A beta-lactam allergy that has_allergic_trigger aztreonam. url:https://www.ncbi.nlm.nih.gov/pubmed/1991925 IEDB:RV An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic. Merrem allergy disease_ontology DOID:0040038 meropenem allergy DOID:0040038 An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic. url:https://www.ncbi.nlm.nih.gov/pubmed/23668298 IEDB:RV An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate. allergic asthma to HDI allergic asthma to HMDI disease_ontology DOID:0040040 hexamethylene diisocyanate allergic asthma DOID:0040040 An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate. url:https://www.ncbi.nlm.nih.gov/pubmed/8711735 IEDB:RV An allergic asthma that has_allergic_trigger isocyanates. disease_ontology DOID:0040041 isocyanates allergic asthma DOID:0040041 An allergic asthma that has_allergic_trigger isocyanates. url:https://www.ncbi.nlm.nih.gov/pubmed/3349596 IEDB:RV An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate. allergic asthma to MDI disease_ontology DOID:0040042 diphenylmethane-4,4'-diisocyanate allergic asthma DOID:0040042 An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate. url:https://www.ncbi.nlm.nih.gov/pubmed/8711735 IEDB:RV An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate. allergic asthma to TDI disease_ontology DOID:0040043 toluene meta-diisocyanate allergic asthma DOID:0040043 An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate. url:https://www.ncbi.nlm.nih.gov/pubmed/11289402 IEDB:RV An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate. allergic asthma to MIC disease_ontology DOID:0040044 methyl isocyanate allergic asthma DOID:0040044 An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate. url:https://www.ncbi.nlm.nih.gov/pubmed/3622432 IEDB:RV An allergic asthma that has_allergic_trigger nickel atom. allergic asthma to Ni disease_ontology DOID:0040045 nickel allergic asthma DOID:0040045 An allergic asthma that has_allergic_trigger nickel atom. url:https://www.ncbi.nlm.nih.gov/pubmed/6691936 IEDB:RV An allergic contact dermatitis that has_allergic_trigger nickel atom. ICD10CM:L23.0 allergic contact dermatitis to Ni disease_ontology DOID:0040046 nickel allergic contact dermatitis DOID:0040046 An allergic contact dermatitis that has_allergic_trigger nickel atom. url:https://www.ncbi.nlm.nih.gov/pubmed/7671317 IEDB:RV An allergic asthma that has_allergic_trigger trimellitic anhydride. allergic asthma to TMA disease_ontology DOID:0040047 trimellitic anhydride allergic asthma DOID:0040047 An allergic asthma that has_allergic_trigger trimellitic anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/6643876 IEDB:RV An allergic asthma that has_allergic_trigger phthalic anhydride. disease_ontology DOID:0040048 phthalic anhydride allergic asthma DOID:0040048 An allergic asthma that has_allergic_trigger phthalic anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/3711550 IEDB:RV An allergic asthma that has_allergic_trigger maleic anhydride. allergic asthma to MA disease_ontology DOID:0040049 maleic anhydride allergic asthma DOID:0040049 An allergic asthma that has_allergic_trigger maleic anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/3711550 IEDB:RV An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride. disease_ontology DOID:0040050 tetrachlorophthalic anhydride allergic asthma DOID:0040050 An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/3711550 IEDB:RV An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride. allergic asthma to HHPA disease_ontology DOID:0040051 hexahydrophthalic anhydride allergic asthma DOID:0040051 An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/4008795 IEDB:RV An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate. allergic contact dermatitis to MDI disease_ontology DOID:0040052 diphenylmethane-4,4'-diisocyanate allergic contact dermatitis DOID:0040052 An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate. url:https://www.ncbi.nlm.nih.gov/pubmed/6296214 IEDB:RV An allergic contact dermatitis that has_allergic_trigger cobalt atom. allergic contact dermatitis to Co disease_ontology DOID:0040053 cobalt allergic contact dermatitis DOID:0040053 An allergic contact dermatitis that has_allergic_trigger cobalt atom. url:https://www.ncbi.nlm.nih.gov/pubmed/8566016 IEDB:RV An allergic asthma that has_allergic_trigger cobalt atom. Co allergic asthma disease_ontology DOID:0040054 cobalt allergic asthma DOID:0040054 An allergic asthma that has_allergic_trigger cobalt atom. url:https://www.ncbi.nlm.nih.gov/pubmed/7444839 IEDB:RV An allergic contact dermatitis that has_allergic_trigger palladium. allergic contact dermatitis to Pd disease_ontology DOID:0040055 palladium allergic contact dermatitis DOID:0040055 An allergic contact dermatitis that has_allergic_trigger palladium. url:https://www.ncbi.nlm.nih.gov/pubmed/25097477 IEDB:RV An allergic contact dermatitis that has_allergic_trigger chromium atom. ICD10CM:L23.0 disease_ontology DOID:0040056 chromium allergic contact dermatitis DOID:0040056 An allergic contact dermatitis that has_allergic_trigger chromium atom. url:https://www.ncbi.nlm.nih.gov/pubmed/1108802 IEDB:RV An allergic contact dermatitis that has_allergic_trigger benzoic acid. SNOMEDCT_US_2023_03_01:294186000 UMLS_CUI:C0571102 allergic contact dermatitis to benzoate disease_ontology DOID:0040057 benzoic acid allergic contact dermatitis DOID:0040057 An allergic contact dermatitis that has_allergic_trigger benzoic acid. url:https://www.ncbi.nlm.nih.gov/pubmed/25097477 IEDB:RV An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine. allergic contact dermatitis to PPD allergic contact dermatitis to p-phenylenediamine disease_ontology DOID:0040058 1,4-phenylenediamine allergic contact dermatitis DOID:0040058 An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine. url:https://www.ncbi.nlm.nih.gov/pubmed/8400900 IEDB:RV An allergic contact dermatitis that has_allergic_trigger potassium dichromate. disease_ontology DOID:0040059 potassium dichromate allergic contact dermatitis DOID:0040059 An allergic contact dermatitis that has_allergic_trigger potassium dichromate. url:https://www.ncbi.nlm.nih.gov/pubmed/15462465 IEDB:RV A photoallergic dermatitis that has_allergic_trigger ketoprofen. SNOMEDCT_US_2023_03_01:293621000 UMLS_CUI:C0570547 photoallergic dermatitis to Orudis disease_ontology DOID:0040060 ketoprofen photoallergic dermatitis DOID:0040060 A photoallergic dermatitis that has_allergic_trigger ketoprofen. url:https://www.ncbi.nlm.nih.gov/pubmed/11169173 IEDB:RV A respiratory allergy that has_allergic_trigger remazole black-GR. respiratory allergy to Reactive Black 5 disease_ontology DOID:0040061 remazole black respiratory allergy DOID:0040061 A respiratory allergy that has_allergic_trigger remazole black-GR. url:https://www.ncbi.nlm.nih.gov/pubmed/2312995 IEDB:RV A respiratory allergy that has_allergic_trigger chloramine T. respiratory allergy to Chloraseptin respiratory allergy to Chlorazol respiratory allergy to Trichlorol disease_ontology DOID:0040062 chloramine T respiratory allergy DOID:0040062 A respiratory allergy that has_allergic_trigger chloramine T. url:https://www.ncbi.nlm.nih.gov/pubmed/2758361 IEDB:RV A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide. respiratory allergy to vinyl cyclohexene diepoxide disease_ontology DOID:0040063 4-vinylcyclohexene dioxide respiratory allergy DOID:0040063 A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide. url:https://www.ncbi.nlm.nih.gov/pubmed/3356477 IEDB:RV An allergic contact dermatitis that has_allergic_trigger (-)-carvone. allergic contact dermatitis to levo-carvone disease_ontology DOID:0040064 carvone allergic contact dermatitis DOID:0040064 An allergic contact dermatitis that has_allergic_trigger (-)-carvone. url:https://www.ncbi.nlm.nih.gov/pubmed/11380545 IEDB:RV A drug allergy that has_allergic_trigger quinidine. SNOMEDCT_US_2023_03_01:294978001 UMLS_CUI:C0571881 Kinidin allergy disease_ontology DOID:0040065 quinidine allergy DOID:0040065 A drug allergy that has_allergic_trigger quinidine. url:https://www.ncbi.nlm.nih.gov/pubmed/445303 IEDB:RV A drug allergy that has_allergic_trigger melphalan. SNOMEDCT_US_2023_03_01:293751001 UMLS_CUI:C0570673 Alkeran allergy disease_ontology DOID:0040066 melphalan allergy DOID:0040066 A drug allergy that has_allergic_trigger melphalan. url:https://www.ncbi.nlm.nih.gov/pubmed/445303 IEDB:RV An allergic contact dermatitis that has_allergic_trigger neomycin sulfate. SNOMEDCT_US_2023_03_01:409640001 UMLS_CUI:C1443961 allergic contact dermatitis to neomycin sulphate disease_ontology DOID:0040067 neomycin sulfate allergic contact dermatitis DOID:0040067 An allergic contact dermatitis that has_allergic_trigger neomycin sulfate. url:https://www.ncbi.nlm.nih.gov/pubmed/21616561 IEDB:RV An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol. allergic contact dermatitis to PTBP allergic contact dermatitis to butylphen disease_ontology DOID:0040068 4-tert-butylphenol allergic contact dermatitis DOID:0040068 An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol. url:https://www.ncbi.nlm.nih.gov/pubmed/8462290 IEDB:RV An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene. allergic contact dermatitis to DNCB allergic contact dermatitis to dinitrochlorobenzene disease_ontology DOID:0040069 1-chloro-2,4-dinitrobenzene allergic contact dermatitis DOID:0040069 An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene. url:https://www.ncbi.nlm.nih.gov/pubmed/17008874 IEDB:RV A drug allergy that has_allergic_trigger co-trimoxazole. SNOMEDCT_US_2023_03_01:294594004 UMLS_CUI:C0571504 Bactrim allergy TMP/SMX allergy cotrimoxazol allergy trimethoprim/sulfamethoxazole allergy disease_ontology DOID:0040070 co-trimoxazole allergy DOID:0040070 A drug allergy that has_allergic_trigger co-trimoxazole. url:https://www.ncbi.nlm.nih.gov/pubmed/445303 IEDB:RV A drug allergy that has_allergic_trigger sodium aurothiomalate. SNOMEDCT_US_2023_03_01:294239008 UMLS_CUI:C0571155 gold sodium thiomalate allergy disease_ontology DOID:0040071 sodium aurothiomalate allergy DOID:0040071 A drug allergy that has_allergic_trigger sodium aurothiomalate. url:https://www.ncbi.nlm.nih.gov/pubmed/445303 IEDB:RV An allergic contact dermatitis that has_allergic_trigger parthenolide. allergic contact dermatitis to feverfew disease_ontology DOID:0040072 parthenolide allergic contact dermatitis DOID:0040072 An allergic contact dermatitis that has_allergic_trigger parthenolide. url:https://www.ncbi.nlm.nih.gov/pubmed/17986299 IEDB:RV A drug allergy that has_allergic_trigger disodium cromoglycate. DSCG allergy disease_ontology DOID:0040073 disodium cromoglycate allergy DOID:0040073 A drug allergy that has_allergic_trigger disodium cromoglycate. url:https://www.ncbi.nlm.nih.gov/pubmed/3128591 IEDB:RV An allergic contact dermatitis that has_allergic_trigger formaldehyde. SNOMEDCT_US_2023_03_01:294426006 UMLS_CUI:C0571339 allergic contact dermatitis to formalin disease_ontology DOID:0040074 formaldehyde allergic contact dermatitis DOID:0040074 An allergic contact dermatitis that has_allergic_trigger formaldehyde. url:https://www.ncbi.nlm.nih.gov/pubmed/7902023 IEDB:RV An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one. allergic contact dermatitis to BIT allergic contact dermatitis to benzisothiazolone disease_ontology DOID:0040075 benzo[d]isothiazol-3-one allergic contact dermatitis DOID:0040075 An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one. url:https://www.ncbi.nlm.nih.gov/pubmed/6446435 IEDB:RV A drug allergy that has_allergic_trigger phthalyl group. SNOMEDCT_US_2023_03_01:294571000 UMLS_CUI:C0571482 phthalyl allergy disease_ontology DOID:0040076 phthalyl group allergy DOID:0040076 A drug allergy that has_allergic_trigger phthalyl group. url:https://www.ncbi.nlm.nih.gov/pubmed/7400667 IEDB:RV A drug allergy that has_allergic_trigger alcuronium bromide. disease_ontology DOID:0040077 alcuronium bromide allergy DOID:0040077 A drug allergy that has_allergic_trigger alcuronium bromide. url:https://www.ncbi.nlm.nih.gov/pubmed/2215478 IEDB:RV A drug allergy that has_allergic_trigger gallamine. SNOMEDCT_US_2023_03_01:294229002 UMLS_CUI:C0571145 disease_ontology DOID:0040078 gallamine allergy DOID:0040078 A drug allergy that has_allergic_trigger gallamine. url:https://www.ncbi.nlm.nih.gov/pubmed/2215478 IEDB:RV An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group. allergic contact dermatitis to DNP disease_ontology DOID:0040079 2,4-dinitrophenyl allergic contact dermatitis DOID:0040079 An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group. url:https://www.ncbi.nlm.nih.gov/pubmed/17008874 IEDB:RV A drug allergy that has_allergic_trigger patent blue V. disease_ontology DOID:0040080 patent blue V allergy DOID:0040080 A drug allergy that has_allergic_trigger patent blue V. url:https://www.ncbi.nlm.nih.gov/pubmed/19804438 IEDB:RV A respiratory allergy that has_allergic_trigger acid anhydride. disease_ontology DOID:0040081 acid anhydride respiratory allergy DOID:0040081 A respiratory allergy that has_allergic_trigger acid anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/6643876 IEDB:RV A drug allergy that has_allergic_trigger oxirane. ETO allergy ethylene oxide allergy disease_ontology DOID:0040082 oxirane allergy DOID:0040082 A drug allergy that has_allergic_trigger oxirane. url:https://www.ncbi.nlm.nih.gov/pubmed/3932500 IEDB:RV A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae. ICD10CM:J16.0 ICD9CM:483.1 disease_ontology DOID:0040083 Chlamydia pneumonia DOID:0040083 A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae. url:https://www.ncbi.nlm.nih.gov/pubmed/16831205 IEDB:RV A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae. ICD10CM:J13 ICD9CM:481 disease_ontology DOID:0040084 Streptococcus pneumonia DOID:0040084 A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae. url:https://www.ncbi.nlm.nih.gov/pubmed/26396191 IEDB:RV A bacterial infectious disease has_material_basis_in Bacteria. ICD9CM:995.91 SNOMEDCT_US_2021_09_01:10001005 disease_ontology DOID:0040085 bacterial sepsis DOID:0040085 A bacterial infectious disease has_material_basis_in Bacteria. url:https://www.ncbi.nlm.nih.gov/pubmed/20421654 IEDB:RV A viral infectious disease has_material_basis_in BK polyomavirus. SNOMEDCT_US_2023_03_01:713886006 UMLS_CUI:C1697878 PVAN polyomavirus associated nephropathy disease_ontology DOID:0040086 Polyomavirus-associated nephropathy DOID:0040086 A viral infectious disease has_material_basis_in BK polyomavirus. url:https://www.ncbi.nlm.nih.gov/pubmed/16537617 IEDB:RV PVAN An autoimmune disease of peripheral nervous system that results in peripheral neuropathy. disease_ontology DOID:0040087 autoimmune peripheral neuropathy DOID:0040087 An autoimmune disease of peripheral nervous system that results in peripheral neuropathy. url:https://www.ncbi.nlm.nih.gov/pubmed/7693874 IEDB:RV An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea. disease_ontology DOID:0040088 autoimmune uveitis DOID:0040088 An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea. url:https://www.ncbi.nlm.nih.gov/pubmed/12938234 IEDB:RV An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain. disease_ontology DOID:0040089 autoimmune optic neuritis DOID:0040089 An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain. url:https://www.ncbi.nlm.nih.gov/pubmed/7516573 IEDB:RV An autoimmune disease of gastrointestinal tract that is located_in the stomach. disease_ontology DOID:0040090 autoimmune gastritis DOID:0040090 An autoimmune disease of gastrointestinal tract that is located_in the stomach. url:https://www.ncbi.nlm.nih.gov/pubmed/12645953 IEDB:RV An autoimmune disease of endocrine system that is located_in the pancreas. MESH:D000081012 SNOMEDCT_US_2023_03_01:448542008 UMLS_CUI:C2609129 disease_ontology DOID:0040091 autoimmune pancreatitis MESH:D000081012 DOID:0040091 An autoimmune disease of endocrine system that is located_in the pancreas. url:https://www.ncbi.nlm.nih.gov/pubmed/19940298 IEDB:RV An ankylosing spondylitis with onset during childhood. ICD10CM:M08.1 SNOMEDCT_US_2023_03_01:201802002 UMLS_CUI:C0409675 disease_ontology DOID:0040092 juvenile ankylosing spondylitis DOID:0040092 An ankylosing spondylitis with onset during childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/7541736 IEDB:RV A lupus erythematosus caused by chronic use of certain drugs. ICD10CM:M32.0 NCI:C114354 ORDO:231111 SNOMEDCT_US_2023_03_01:80258006 UMLS_CUI:C0263591 DIL DILE disease_ontology DOID:0040093 drug-induced lupus erythematosus DOID:0040093 A lupus erythematosus caused by chronic use of certain drugs. url:https://www.ncbi.nlm.nih.gov/pubmed/1378852 IEDB:RV DIL DILE An autoimmune disease of urogenital tract that is located_in the renal glomerulus. DOID:0050146 disease_ontology DOID:0040094 autoimmune glomerulonephritis DOID:0040094 An autoimmune disease of urogenital tract that is located_in the renal glomerulus. url:https://www.ncbi.nlm.nih.gov/pubmed/8809141 IEDB:RV An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle. disease_ontology DOID:0040095 autoimmune cardiomyopathy DOID:0040095 An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle. url:https://www.ncbi.nlm.nih.gov/pubmed/10762456 IEDB:RV An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries. disease_ontology DOID:0040096 autoimmune atherosclerosis DOID:0040096 An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries. url:https://www.ncbi.nlm.nih.gov/pubmed/17097662 IEDB:RV An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels. SNOMEDCT_US_2023_03_01:427213005 UMLS_CUI:C1328843 disease_ontology DOID:0040097 autoimmune vasculitis DOID:0040097 An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels. url:https://www.ncbi.nlm.nih.gov/pubmed/23549081 IEDB:RV A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180. ICD10CM:O26.4 disease_ontology DOID:0040098 pemphigus gestationis DOID:0040098 A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180. url:https://www.ncbi.nlm.nih.gov/pubmed/16552711 IEDB:RV A vasculitis with purpuric ulcers. ICD10CM:L95.0 ICD9CM:709.1 livedoid vasculopathy disease_ontology DOID:0040099 livedoid vasculitis DOID:0040099 A vasculitis with purpuric ulcers. url:https://www.ncbi.nlm.nih.gov/pubmed/10925314 IEDB:RV An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin. SNOMEDCT_US_2023_03_01:408539000 UMLS_CUI:C0854359 insulin autoimmune syndrome disease_ontology DOID:0040100 Hirata disease DOID:0040100 An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin. url:https://www.ncbi.nlm.nih.gov/pubmed/10445096 IEDB:RV An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea. disease_ontology neoprene allergy DOID:0040101 N,N'-diphenylthiourea allergic contact dermatitis DOID:0040101 An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea. url:https://www.ncbi.nlm.nih.gov/pubmed/28295200 IEDB:RV An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea. disease_ontology neoprene allergy DOID:0040102 N,N'-diethylthiourea allergic contact dermatitis DOID:0040102 An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea. url:https://www.ncbi.nlm.nih.gov/pubmed/28295200 IEDB:RV A cephalosporin allergy that has_allergic_trigger cefotiam. disease_ontology DOID:0040103 cefotiam allergy DOID:0040103 A cephalosporin allergy that has_allergic_trigger cefotiam. url:https://www.ncbi.nlm.nih.gov/pubmed/28543395 IEDB:RV A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate. disease_ontology DOID:0040104 toluene 2,4-diisocyanate allergic asthma DOID:0040104 A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194110/ IEDB:RV disease_ontology DOID:0050001 obsolete Actinomadura madurae infectious disease true DOID:0050001 disease_ontology DOID:0050002 obsolete Actinomadura pelletieri infectious disease true DOID:0050002 disease_ontology DOID:0050003 obsolete Streptomyces somaliensis infectious disease true DOID:0050003 A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by Neisseria gonorrhoeae infection. SNOMEDCT_US_2023_03_01:301990003 UMLS_CUI:C0578661 disease_ontology DOID:0050004 seminal vesicle acute gonorrhea DOID:0050004 A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by Neisseria gonorrhoeae infection. url:https://en.wikipedia.org/wiki/Seminal_vesicle#Inflammation A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas. disease_ontology DOID:0050007 obsolete cutaneous strongyloidiasis true DOID:0050007 A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis. disease_ontology DOID:0050009 obsolete intestinal strongyloidiasis true DOID:0050009 A strongyloidiasis that involves infection of intestine with Strongyloides stercoralis, which results in abdominal pain, diarrhea, ileus, massive gastrointestinal bleeding, severe malabsorption, and peritonitis. url:http://www.dpd.cdc.gov/DPDx/HTML/Strongyloidiasis.htm url:http://www.merck.com/mmpe/sec14/ch182/ch182i.html?qt=strongyloidiasis&alt=sh A mansonelliasis that involves parasitic infection by the nematode Mansonella perstans, which resides in body cavities and the surrounding tissues causing angioedema, pruritus, fever, headaches, arthralgias, and neurologic manifestations. Midges transmit the disease. disease_ontology DOID:0050010 obsolete Mansonella perstans infectious disease true DOID:0050010 A mansonelliasis that involves parasitic infection by the nematode Mansonella perstans, which resides in body cavities and the surrounding tissues causing angioedema, pruritus, fever, headaches, arthralgias, and neurologic manifestations. Midges transmit the disease. url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm A mansonelliasis that involves parasitic infection by the nematode Mansonella streptocerca, which resides in the dermis and subcutaneous tissue causing pruritus, papular eruptions and pigmentation changes. Midges transmit the disease. disease_ontology DOID:0050011 obsolete Mansonella streptocerca infectious disease true DOID:0050011 A mansonelliasis that involves parasitic infection by the nematode Mansonella streptocerca, which resides in the dermis and subcutaneous tissue causing pruritus, papular eruptions and pigmentation changes. Midges transmit the disease. url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus (Alphavirus chikungunya), which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. GARD:6038 Chikungunya fever disease_ontology DOID:0050012 chikungunya DOID:0050012 A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus (Alphavirus chikungunya), which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. url:http://en.wikipedia.org/wiki/Chikungunya_virus url:https://www.cdc.gov/chikungunya/about/ An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism. disease_ontology DOID:0050013 obsolete carbohydrate metabolism disease true DOID:0050013 An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism. url:http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html A viral infectious disease that results_in infection in deer, has_material_basis_in Epizootic hemorrhagic disease virus, which is transmitted_by Culicoides biting midges. The infection has_symptom hemorrhages in many tissues including the skin, heart, and gastrointestinal tract, and has_symptom ulcers of the tongue, dental pad, palate, rumen, and omasum. disease_ontology EHD DOID:0050014 obsolete epizootic hemorrhagic disease true DOID:0050014 A viral infectious disease that results_in infection in deer, has_material_basis_in Epizootic hemorrhagic disease virus, which is transmitted_by Culicoides biting midges. The infection has_symptom hemorrhages in many tissues including the skin, heart, and gastrointestinal tract, and has_symptom ulcers of the tongue, dental pad, palate, rumen, and omasum. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/epizootic_hemorrhagic_disease.pdf A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Rocio virus, which is transmitted_by Psorophora ferox and transmitted_by Aedes species of mosquitoes. The infection has_symptom abdominal distension, has_symptom confusion, has_symptom motor impairment, has_symptom difficulty in walking and maintaining balance, has_symptom meningeal irritation, and has_symptom cerebellar syndrome. disease_ontology DOID:0050015 obsolete Rocio virus encephalitis true DOID:0050015 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Rocio virus, which is transmitted_by Psorophora ferox and transmitted_by Aedes species of mosquitoes. The infection has_symptom abdominal distension, has_symptom confusion, has_symptom motor impairment, has_symptom difficulty in walking and maintaining balance, has_symptom meningeal irritation, and has_symptom cerebellar syndrome. url:http://books.google.com/books?id=5O0somr0w18C&pg=RA1-PA1198&lpg=RA1-PA1198&dq#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/sites/entrez/17622628 url:http://www.scielo.br/pdf/rsp/v20n3/01.pdf disease_ontology DOID:0050024 obsolete Ehrlichia ewingii ehrlichiosis true DOID:0050024 An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. DOID:0050021 DOID:0050022 human granulocytic ehrlichiosis disease_ontology HGE DOID:0050025 human granulocytic anaplasmosis DOID:0050025 An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. url:https://www.ncbi.nlm.nih.gov/pubmed/25999228 HGE An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. DOID:14091 GARD:72 disease_ontology Ehrlichiosis chafeensis DOID:0050026 human monocytic ehrlichiosis DOID:0050026 An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. url:https://rarediseases.org/rare-diseases/human-monocytic-ehrlichiosis-hme/ An acquired metabolic disease that is characterized by abnormal mineral metabolism. disease_ontology DOID:0050032 mineral metabolism disease DOID:0050032 An acquired metabolic disease that is characterized by abnormal mineral metabolism. url:http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. DOID:0050034 DOID:0050036 Rickettsia africae spotted fever south african tick-bite fever disease_ontology DOID:0050035 African tick-bite fever DOID:0050035 A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. url:http://jcm.asm.org/cgi/reprint/42/2/816 url:http://www.cdc.gov/otherspottedfever/index.html A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. disease_ontology DOID:0050041 Astrakhan spotted fever DOID:0050041 A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. url:http://www.cdc.gov/otherspottedfever/index.html url:https://pubmed.ncbi.nlm.nih.gov/7985764/ A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. disease_ontology DOID:0050042 Indian tick typhus DOID:0050042 A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. url:http://www.biomedcentral.com/1471-2180/5/11 url:http://www.cdc.gov/otherspottedfever/index.html A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. disease_ontology Israeli spotted fever DOID:0050043 Israeli tick typhus DOID:0050043 A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. url:http://www.biomedcentral.com/1471-2180/5/11 url:http://www.cdc.gov/otherspottedfever/index.html A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy. Rickettsia heilongjiangensis spotted fever disease_ontology DOID:0050046 Far Eastern spotted fever DOID:0050046 A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy. url:http://www.cdc.gov/eid/content/16/8/pdfs/1306.pdf url:http://www.cdc.gov/otherspottedfever/index.html A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy. DOID:0050048 Thai tick typhus disease_ontology FISF DOID:0050047 Flinders Island spotted fever DOID:0050047 A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy. url:https://www.cdc.gov/otherspottedfever/imported/index.html FISF A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities. DOID:0050049 Rickettsia japonica spotted fever oriental spotted fever disease_ontology DOID:0050050 Japanese spotted fever DOID:0050050 A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities. url:http://www.cdc.gov/otherspottedfever/index.html url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash. maculatum infection disease_ontology DOID:0050051 Rickettsia parkeri spotted fever DOID:0050051 A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash. url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri url:http://www.cdc.gov/otherspottedfever/index.html A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. DOID:0050056 DOID:1708 GARD:7585 MESH:D012373 Tick typhus disease_ontology Brazilian spotted Choix Exanthematic typhus of Sao Paulo Fiebre maculosa Fiebre manchada Sao Paulo typhus So Paulo fever Tobia fever DOID:0050052 Rocky Mountain spotted fever DOID:0050052 A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_rickettsii_%28Rocky_Mountain_spotted_fever%29 url:http://www.cdc.gov/otherspottedfever/index.html disease_ontology DOID:0050053 obsolete Rickettsia honei spotted fever true DOID:0050053 A gastrointestinal anthrax that results in infection located in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. disease_ontology DOID:0050059 oropharyngeal anthrax DOID:0050059 A gastrointestinal anthrax that results in infection located in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. url:https://www.ncbi.nlm.nih.gov/pubmed/3934300 A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin. MESH:D004887 disease_ontology DOID:0050061 erysipeloid DOID:0050061 A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin. url:https://en.wikipedia.org/wiki/Erysipeloid disease_ontology DOID:0050063 obsolete abortive plague true DOID:0050063 disease_ontology DOID:0050065 obsolete cutaneous listeriosis true DOID:0050065 disease_ontology DOID:0050066 obsolete Listeria meningoencephalitis true DOID:0050066 disease_ontology DOID:0050067 obsolete Listeria septicaemia true DOID:0050067 A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration. disease_ontology DOID:0050068 obsolete pestis minor true DOID:0050068 disease_ontology DOID:0050069 obsolete Yersinia pestis infectious disease true DOID:0050069 disease_ontology DOID:0050070 obsolete plague meningitis true DOID:0050070 A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens. MESH:C000656784 disease_ontology DOID:0050072 adiaspiromycosis DOID:0050072 A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens. url:http://www.eblue.org/article/S0190-9622%2804%2901331-3/abstract An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. disease_ontology DOID:0050073 invasive aspergillosis DOID:0050073 An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. url:http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh url:http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm An aspergillosis that involves fungal infection of the tonsils by Aspergillus species. disease_ontology DOID:0050074 obsolete tonsillar aspergillosis true DOID:0050074 An aspergillosis that involves fungal infection of the tonsils by Aspergillus species. url:https://www.ncbi.nlm.nih.gov/pubmed/792373 A primary systemic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom lung lesions, has_symptom pleural thickening and results_in_formation_of pulmonary nodules. DOID:0050076 DOID:0050077 disease_ontology DOID:0050075 obsolete pulmonary blastomycosis true DOID:0050075 disease_ontology DOID:0050078 obsolete cervix tuberculosis true DOID:0050078 disease_ontology DOID:0050079 obsolete niacin deficiency true DOID:0050079 disease_ontology DOID:0050080 obsolete iodine deficiency true DOID:0050080 A viral infectious disease that results_in infection located_in liver, has_material_basis_in Torque teno virus, which is transmitted_by blood transfusion. DOID:0050081 TT virus liver infection Transfussion-transmitted virus liver infection disease_ontology human circovirus infectious disease DOID:0050082 obsolete hepatic Torque teno virus infectious disease true DOID:0050082 A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency. GARD:8761 MESH:C536166 disease_ontology DOID:0050083 Keshan disease DOID:0050083 A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency. url:https://en.wikipedia.org/wiki/Keshan_disease An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges. Feline viral rhinotracheitis feline coryza feline influenza disease_ontology DOID:0050084 Not a human disease. obsolete rhinotracheitis true DOID:0050084 An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges. url:https://www.merriam-webster.com/medical/rhinotracheitis A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales. disease_ontology DOID:0050085 obsolete entomophthoromycosis true DOID:0050085 A subcutaneous mycosis that involves fungal infection of the subcutaneous tissue caused by members of the order Entomophthorales. url:http://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle. disease_ontology DOID:0050086 obsolete cutaneous mucormycosis true DOID:0050086 An opportunistic mycosis that results_in fungal infection located_in cutaneous tissues or located_in subcutaneous tissues followed by a traumatic implantation of fungal elements through the skin, has_material_basis_in Mucorales molds and has_symptom necrotic lesions which progressively evolve from the epidermis into dermis and even muscle. url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/ url:http://www.doctorfungus.org/mycoses/human/zygo/zygomycosis.htm url:http://www.springerlink.com/content/c7286n02m8327567/fulltext.pdf A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting. disease_ontology DOID:0050088 obsolete gastrointestinal mucormycosis true DOID:0050088 A opportunistic mycosis that results_in fungal infection located_in gastrointestinal tract, has_material_basis_in Mucorales molds in immunocompromised patients, results_in_formation_of intra-abdominal abscess and has_symptom abdominal pain, has_symptom distention, has_symptom nausea, and has_symptom vomiting. url:https://www.ncbi.nlm.nih.gov/pubmed/16020690 An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis. disease_ontology DOID:0050089 obsolete pulmonary mucormycosis true DOID:0050089 An opportunistic mycosis that results_in fungal infection located_in lungs, has_material_basis_in Mucorales molds and has_symptom hemoptysis and has_symptom necrosis. url:http://archinte.ama-assn.org/cgi/reprint/159/12/1301.pdf url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures. disease_ontology DOID:0050090 obsolete rhinocerebral mucormycosis true DOID:0050090 An opportunistic mycosis that results_in fungal infection located_in nose, located_in sinuses, located_in eyes, and located_in brain of immunocompromised individuals and has_symptom orbital cellulitis, has_symptom proptosis, has_symptom pus discharge from the nose, and has_symptom seizures. url:http://www.merck.com/mmhe/sec17/ch197/ch197h.html A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis. disease_ontology DOID:0050091 obsolete disseminated paracoccidioidomycosis true DOID:0050091 A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Paracoccidioides brasiliensis. url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/ A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss. disease_ontology DOID:0050092 obsolete pulmonary paracoccidioidomycosis true DOID:0050092 A primary systemic mycosis that results_in inflammation located_in lungs, has_material_basis_in Paracoccidioides brasiliensis and has_symptom cough, has_symptom fever, has_symptom night sweats, has_symptom malaise, and has_symptom weight loss. url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/ A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus. disease_ontology DOID:0050093 obsolete disseminated sporotrichosis true DOID:0050093 A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus. url:http://en.wikipedia.org/wiki/Sporotrichosis A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate. disease_ontology DOID:0050094 obsolete lymphocutaneous sporotrichosis true DOID:0050094 A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate. url:http://emedicine.medscape.com/article/228723-overview url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/ A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes. disease_ontology DOID:0050095 obsolete pulmonary sporotrichosis true DOID:0050095 A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes. url:http://en.wikipedia.org/wiki/Sporotrichosis A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules. MESH:C000656825 dermatophytosis of beard disease_ontology DOID:0050096 tinea barbae DOID:0050096 A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules. url:https://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-barbae A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft. disease_ontology DOID:0050097 ectothrix infectious disease DOID:0050097 A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft. url:https://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-capitis An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii. disease_ontology DOID:0050098 obsolete Microsporum audouinii tinea capitis true DOID:0050098 An ectothrix infectious disease that results_in non-inflammatory fungal infection located_in scalp and located_in skin, has_material_basis_in Microsporum audouinii. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_audouinii.html An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis. disease_ontology DOID:0050099 obsolete Microsporum canis tinea capitis true DOID:0050099 An ectothrix infectious disease that results_in zoophilic fungal infection located_in hair, located_in skin, and located_in nail, has_material_basis_in Microsporum canis. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_canis.html An ectothrix infectious disease that results_in zoophilic fungal infection located_in skin, and located_in hair, has_material_basis_in Microsporum distortum, which causes infections in cats, dogs and other animals. disease_ontology DOID:0050100 obsolete Microsporum distortum tinea capitis true DOID:0050100 An ectothrix infectious disease that results_in zoophilic fungal infection located_in skin, and located_in hair, has_material_basis_in Microsporum distortum, which causes infections in cats, dogs and other animals. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_distortum.html An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum. disease_ontology DOID:0050101 obsolete Microsporum ferrugineum tinea capitis true DOID:0050101 An ectothrix infectious disease that results_in anthropophilic fungal infection located_in skin and located_in hair, has_material_basis_in Microsporum ferrugineum. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_ferrugineum.html An ectothrix infectious disease that results_in geophilic fungal infection located_in glabrous skin, located_in scalp and located_in hair, has_material_basis_in Microsporum gypseum, which results_in_formation_of inflammatory lesions. disease_ontology DOID:0050102 obsolete Microsporum gypseum tinea capitis true DOID:0050102 An ectothrix infectious disease that results_in geophilic fungal infection located_in glabrous skin, located_in scalp and located_in hair, has_material_basis_in Microsporum gypseum, which results_in_formation_of inflammatory lesions. url:http://archderm.highwire.org/cgi/reprint/64/3/309.pdf url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_gypseum.html url:http://www.springerlink.com/content/q856g32375864654/fulltext.pdf An ectothrix infectious disease that results_in geophilic and zoophilic fungal infection located_in skin, located_in scalp and located_in hair, has_material_basis_in Microsporum nanum, which results_in_formation_of chronic non-inflammatory lesions in pigs and humans. disease_ontology DOID:0050103 obsolete Microsporum nanum tinea capitis true DOID:0050103 An ectothrix infectious disease that results_in geophilic and zoophilic fungal infection located_in skin, located_in scalp and located_in hair, has_material_basis_in Microsporum nanum, which results_in_formation_of chronic non-inflammatory lesions in pigs and humans. url:http://www.jstor.org/stable/pdfplus/3756652.pdf url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_nanum.html An ectothrix infectious disease that results_in zoophilic inflammatory fungal infection located_in skin, located_in beard, located_in scalp and located_in nail in cattle and humans, has-agent Trichophyton verrucosum. disease_ontology DOID:0050104 obsolete Trichophyton verrucosum tinea capitis true DOID:0050104 An ectothrix infectious disease that results_in zoophilic inflammatory fungal infection located_in skin, located_in beard, located_in scalp and located_in nail in cattle and humans, has-agent Trichophyton verrucosum. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/verrucosum.html A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only. disease_ontology DOID:0050105 endothrix infectious disease DOID:0050105 A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only. url:http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/ An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense. disease_ontology DOID:0050106 obsolete Trichophyton soudanense tinea capitis true DOID:0050106 An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton soudanense. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/soudanense.html An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail and located_in scalp, has_material_basis_in Trichophyton tonsurans and results_in_formation_of scaling lesions. disease_ontology DOID:0050107 obsolete Trichophyton tonsurans tinea capitis true DOID:0050107 An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail and located_in scalp, has_material_basis_in Trichophyton tonsurans and results_in_formation_of scaling lesions. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/tonsurans.html An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail, located_in beard, and located_in scalp, has_material_basis_in Trichophyton violaceum and results_in_formation_of scaling lesions. The hairs become notably fragile and break easily at the level of the scalp. The rest of the infected follicle looks like black dots. disease_ontology DOID:0050108 obsolete Trichophyton violaceum tinea capitis true DOID:0050108 An endothrix infectious disease that results_in anthropophilic fungal infection located_in skin, located_in nail, located_in beard, and located_in scalp, has_material_basis_in Trichophyton violaceum and results_in_formation_of scaling lesions. The hairs become notably fragile and break easily at the level of the scalp. The rest of the infected follicle looks like black dots. url:http://www.doctorfungus.org/mycoses/human/other/Tinea_capitis_favosa.htm url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/violaceum.html A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss. disease_ontology DOID:0050110 obsolete Trichophyton schoenleinii tinea capitis true DOID:0050110 A tinea favosa that results_in anthropophilic fungal infection located_in scalp, has_material_basis_in Trichophyton schoenleinii. It is a chronic, scarring form of tinea capitis, which results_in_formation_of scutula and has_symptom permanent hair loss. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/schoenlenii.html An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum. disease_ontology DOID:0050111 obsolete Microsporum fulvum tinea capitis true DOID:0050111 An ectothrix infectious disease that results_in geophilic fungal infection located_in scalp and located_in hair in humans and animals, has_material_basis_in Microsporum fulvum. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Microsporum/Microsporum_fulvum.html An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii. disease_ontology DOID:0050112 obsolete Trichophyton megninii tinea capitis true DOID:0050112 An ectothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton megninii. url:http://emedicine.medscape.com/article/787217-overview url:http://www.provlab.ab.ca/mycol/tutorials/derm/tmegn.htm An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum. disease_ontology DOID:0050113 obsolete Trichophyton equinum tinea capitis true DOID:0050113 An ectothrix infectious disease that results_in zoophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton equinum. url:http://www.mycology.adelaide.edu.au/Fungal_Descriptions/Dermatophytes/Trichophyton/equinum.html An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions. disease_ontology DOID:0050115 obsolete Trichophyton yaoundei tinea capitis true DOID:0050115 An endothrix infectious disease that results_in anthropophilic fungal infection located_in scalp and located_in hair, has_material_basis_in Trichophyton yaoundei, results_in_formation_of lesions. url:http://en.wikipedia.org/wiki/Trichophyton url:http://www.nature.com/jid/journal/v41/n1/pdf/jid19636a.pdf A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. disease_ontology DOID:0050116 tinea imbricata DOID:0050116 A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. url:https://www.sciencedirect.com/topics/medicine-and-dentistry/tinea-imbricata A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. infectious disease DOID:10115 DOID:11078 DOID:1304 DOID:1321 DOID:2040 DOID:2288 DOID:3099 DOID:4120 DOID:4620 DOID:5256 DOID:945 DOID:95 DOID:9532 DOID:9696 ICD9CM:079.0 UMLS_CUI:C0001485 infectious disease disease_ontology DOID:0050117 DO:wk disease by infectious agent DOID:0050117 A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26726 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus (Orthobunyavirus lacrosseense), which is primarily transmitted_by treehole mosquito (Ochlerotatus triseriatus) but also Asian tiger mosquito (Aedes albopictus) and Asian bush mosquito (Aedes japonicus). The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. DOID:10840 ICD10CM:A83.5 ICD9CM:062.5 MESH:D004670 SNOMEDCT_US_2023_03_01:69627004 UMLS_CUI:C0014053 California Encephalitis California virus encephalitis Neuroinvasive California encephalitis virus infection disease_ontology DOID:0050118 La Crosse encephalitis DOID:0050118 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus (Orthobunyavirus lacrosseense), which is primarily transmitted_by treehole mosquito (Ochlerotatus triseriatus) but also Asian tiger mosquito (Aedes albopictus) and Asian bush mosquito (Aedes japonicus). The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. url:https://en.wikipedia.org/wiki/La_Crosse_encephalitis url:https://www.cdc.gov/la-crosse-encephalitis/about/ url:https://www.ncbi.nlm.nih.gov/books/NBK562248/ A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder. WNND WNNS West nile neuroinvasive disease disease_ontology DOID:0050119 obsolete West Nile virus neurological syndrome true DOID:0050119 A West Nile virus infectious disease that has_material_basis_in West Nile virus, which can cause meningitis, encephalitis, acute laccid paralysis, Parkingsonian-like conditions or movement disorder. url:http://www.phac-aspc.gc.ca/wnv-vwn/hmncasedef-eng.php A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. DOID:6453 GARD:6589 ICD10CM:D76.1 MESH:D051359 MIM:PS267700 NCI:C34792 ORDO:540 SNOMEDCT_US_2023_03_01:190958003 UMLS_CUI:C0024291 haemophagocytic syndrome disease_ontology DOID:0050120 Xref MGI. MESH:C537250 added from NeuroDevNet [WAK]. hemophagocytic lymphohistiocytosis DOID:0050120 A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. url:http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis url:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso disease_ontology DOID:0050123 obsolete tuberculous encephalitis true DOID:0050123 A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. DSS disease_ontology DOID:0050125 dengue shock syndrome DOID:0050125 A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. url:http://en.wikipedia.org/wiki/Dengue_shock_syndrome url:https://pmc.ncbi.nlm.nih.gov/articles/PMC3097561/ DSS A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures. valtice fever disease_ontology Tahyna virus infection DOID:0050126 obsolete Tahyna virus encephalitis true DOID:0050126 A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Tahyna virus, which is transmitted_by Aedes, transmitted_by Culex, and transmitted_by Ochlerotatus mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures. url:http://www.cdc.gov/eid/content/15/2/306.htm url:http://www.springerlink.com/content/u67424r731431362/ A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. DOID:2052 DOID:9564 ICD10CM:J01 ICD9CM:461 NCI:C128411 SNOMEDCT_US_2023_03_01:195649005 UMLS_CUI:C0149512 disease_ontology DOID:0050127 sinusitis DOID:0050127 A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. url:http://en.wikipedia.org/wiki/sinusitis A diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions. disease_ontology DOID:0050129 secretory diarrhea DOID:0050129 A diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea A dirrhea that occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products. disease_ontology DOID:0050130 osmotic diarrhea DOID:0050130 A dirrhea that occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea A diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed. disease_ontology DOID:0050131 motility-related diarrhea DOID:0050131 A diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis. disease_ontology DOID:0050132 inflammatory diarrhea DOID:0050132 A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host. DOID:13370 ICD10CM:B36.9 MESH:D010854 SNOMEDCT_US_2023_03_01:266218008 SNOMEDCT_US_2023_03_01:47382004 UMLS_CUI:C0031898 UMLS_CUI:C2980104 Steroid-modified tinea infection piedra disease_ontology DOID:0050133 Adding a UMLS CUI for piedra C2980104. superficial mycosis DOID:0050133 A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host. url:http://en.wikipedia.org/wiki/Mycoses url:http://www.mycology.adelaide.edu.au/Mycoses/ A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions. disease_ontology DOID:0050134 cutaneous mycosis DOID:0050134 A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions. url:http://en.wikipedia.org/wiki/Mycoses url:http://jama.ama-assn.org/cgi/reprint/61/6/407 A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma. disease_ontology DOID:0050135 subcutaneous mycosis DOID:0050135 A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma. url:https://www.adelaide.edu.au/mycology/mycoses/subcutaneous-mycoses A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs. disease_ontology DOID:0050136 systemic mycosis DOID:0050136 A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs. url:http://dermnetnz.org/fungal/systemic-mycoses.html url:http://www.mycology.adelaide.edu.au/Mycoses/ url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006 An elephantiasis that is characterized by lymphadema located_in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposits. MESH:D004604 disease_ontology DOID:0050138 podoconiosis DOID:0050138 An elephantiasis that is characterized by lymphadema located_in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposits. url:https://en.wikipedia.org/wiki/Podoconiosis A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage. disease_ontology DOID:0050139 obsolete Opisthorchis felineus infectious disease true DOID:0050139 A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis felineus. The symptoms include fever, general malaise, skin rash, gastrointestinal disturbances, severe anemia and liver damage. url:http://en.wikipedia.org/wiki/Opisthorchis_felineus A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. disease_ontology DOID:0050140 acute diarrhea DOID:0050140 A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. url:http://en.wikipedia.org/wiki/Diarrhea A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins. disease_ontology DOID:0050141 intestinal botulism DOID:0050141 A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins. url:http://www.who.int/mediacentre/factsheets/fs270/en/ url:https://jnnp.bmj.com/content/75/suppl_3/iii35 A dengue disease that results_in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms. disease_ontology DOID:0050143 asymptomatic dengue DOID:0050143 A dengue disease that results_in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms. url:https://pubmed.ncbi.nlm.nih.gov/28107858/ url:https://pubmed.ncbi.nlm.nih.gov/29111183/ A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development. GARD:6815 MESH:D007619 NCI:C84797 ORDO:98861 SNOMEDCT_US_2021_09_01:42402006 Kartagener's syndrome disease_ontology DOID:0050144 Kartagener syndrome DOID:0050144 A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development. url:http://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/19529061 url:https://www.ncbi.nlm.nih.gov/pubmed/23243352 url:https://www.ncbi.nlm.nih.gov/pubmed/24019633 url:https://www.ncbi.nlm.nih.gov/pubmed/25633235 An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing. DOID:13750 ICD10CM:J35.02 ICD9CM:474.01 SNOMEDCT_US_2023_03_01:195794009 UMLS_CUI:C0396023 chronic adenoiditis disease_ontology DOID:0050145 adenoiditis DOID:0050145 An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing. url:http://books.google.com/books?id=6_BPQKPlYzcC&pg=PA96&lpg=PA96&dq#v=onepage&q=&f=false url:http://en.wikipedia.org/wiki/Adenoiditis An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans. MESH:D059249 Singapore ear disease_ontology DOID:0050147 otomycosis DOID:0050147 An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans. url:http://en.wikipedia.org/wiki/Otomycosis url:https://www.merriam-webster.com/medical/otomycosis An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe. DOID:11795 DOID:9390 ICD10CM:J04 ICD10CM:J37.1 ICD9CM:464 ICD9CM:476.1 SNOMEDCT_US_2023_03_01:276443001 SNOMEDCT_US_2023_03_01:83271005 UMLS_CUI:C0155811 UMLS_CUI:C0155837 disease_ontology DOID:0050148 laryngotracheitis DOID:0050148 An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe. url:https://www.merriam-webster.com/medical/laryngotracheitis A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days. disease_ontology DOID:0050150 Pontiac fever DOID:0050150 A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days. url:http://www.cdc.gov/legionella/patient_facts.htm url:https://www.ncbi.nlm.nih.gov/pubmed/623097 A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever. disease_ontology DOID:0050151 obsolete tracheobronchial tuberculosis true DOID:0050151 A pulmonary tuberculosis involving inflammation of trachea and bronchi. The symptoms include dry cough followed by dyspnea, localized wheezing, hemoptysis, hoarseness, anorexia, weight loss, chest pain and fever. url:https://www.ncbi.nlm.nih.gov/pubmed/9122509 A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. ICD10CM:J69.0 MESH:D011015 SNOMEDCT_US_2023_03_01:47839005 UMLS_CUI:C0032290 disease_ontology DOID:0050152 aspiration pneumonia DOID:0050152 A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. url:https://en.wikipedia.org/wiki/Aspiration_pneumonia An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring. disease_ontology DOID:0050153 pulmonary aspergilloma DOID:0050153 An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring. url:http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh url:http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm A bacterial pneumonia caused by the genus Mycoplasma. disease_ontology DOID:0050154 obsolete mycoplasmal pneumonia true DOID:0050154 A bacterial pneumonia caused by the genus Mycoplasma. url:http://en.wikipedia.org/wiki/Mycoplasma A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). disease_ontology DOID:0050155 sensory system disease DOID:0050155 A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). url:http://en.wikipedia.org/wiki/Sensory_system A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. EFO:0000768 GARD:8609 ICD10CM:J84.112 ICD9CM:516.31 MESH:D054990 NCI:C35716 SNOMEDCT_US_2023_03_01:28168000 UMLS_CUI:C1800706 FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis disease_ontology DOID:0050156 OMIM mapping confirmed by DO. [SN]. idiopathic pulmonary fibrosis DOID:0050156 A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. url:https://pubmed.ncbi.nlm.nih.gov/32855221/ url:https://www.ncbi.nlm.nih.gov/books/NBK448162/ url:https://www.nhlbi.nih.gov/health/idiopathic-pulmonary-fibrosis url:https://www.pulmonaryfibrosis.org/life-with-pf/about-ipf An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. DOID:2798 GARD:1620 ICD10CM:J84.116 ICD9CM:516.36 MESH:D018549 NCI:C62586 SNOMEDCT_US_2023_03_01:129458007 UMLS_CUI:C0242770 BOOP Cryptogenic organising pneumonitis Cryptogenic organizing pneumonitis bronchiolitis obliterans organising pneumonia bronchiolitis obliterans organizing pneumonia cryptogenic organising pneumonia idiopathic bronchiolitis obliterans with organising pneumonia idiopathic bronchiolitis obliterans with organizing pneumonia disease_ontology DOID:0050157 cryptogenic organizing pneumonia DOID:0050157 An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh url:https://www.ncbi.nlm.nih.gov/pubmed/11790668 BOOP An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. DOID:2796 ICD10CM:J84.117 ICD9CM:516.37 MESH:C562470 MIM:263000 NCI:C35288 SNOMEDCT_US_2023_03_01:8549006 UMLS_CUI:C0238378 RBILD familial desquamative interstitial pneumonitis respiratory bronchiolitis-associated interstitial lung disease disease_ontology DOID:0050158 OMIM mapping confirmed by DO. [SN]. desquamative interstitial pneumonia DOID:0050158 An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh url:https://www.ncbi.nlm.nih.gov/pubmed/11790668 url:https://www.ncbi.nlm.nih.gov/pubmed/16142185 url:https://www.ncbi.nlm.nih.gov/pubmed/16456642 url:https://www.ncbi.nlm.nih.gov/pubmed/23001799 RBILD An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses. MESH:C562489 disease_ontology DOID:0050159 lymphoid interstitial pneumonia DOID:0050159 An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses. url:https://www.ncbi.nlm.nih.gov/pubmed/11790668 An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches. MESH:C571912 pulmonary anthrax respiratory anthrax wool-sorters' disease woolsorters' disease disease_ontology DOID:0050160 inhalation anthrax DOID:0050160 An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches. url:https://medlineplus.gov/ency/article/001325.htm url:https://www.cdc.gov/anthrax/basics/types/index.html url:https://www.ncbi.nlm.nih.gov/pubmed/11988441 A respiratory system disease which involves the lower respiratory tract. ICD9CM:478.19 SNOMEDCT_US_2023_03_01:195823002 UMLS_CUI:C0029581 disease_ontology DOID:0050161 lower respiratory tract disease DOID:0050161 A respiratory system disease which involves the lower respiratory tract. url:http://en.wikipedia.org/wiki/lower_respiratory_tract disease_ontology DOID:0050162 obsolete influenza encephalopathy true DOID:0050162 disease_ontology DOID:0050163 obsolete influenza myocarditis true DOID:0050163 disease_ontology DOID:0050164 obsolete influenza myositis true DOID:0050164 A tuberculosis that involves infection of the mesenteric glands by tuberculosis causing mycobacteria. The symptoms include distended abdomen, persistent intestinal indigestion, diarrhea, flatulence, and abdominal pain. disease_ontology DOID:0050165 obsolete tuberculous mesenteric gland true DOID:0050165 A tuberculosis that involves infection of the mesenteric glands by tuberculosis causing mycobacteria. The symptoms include distended abdomen, persistent intestinal indigestion, diarrhea, flatulence, and abdominal pain. url:http://books.google.com/books?id=130IVak1eCwC&pg=PA694&lpg=PA694&dq#v=onepage&q=&f=false An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube. ICD10CM:A18.17 ICD9CM:016.6 SNOMEDCT_US_2023_03_01:186242002 UMLS_CUI:C0152828 disease_ontology DOID:0050166 tuberculous salpingitis DOID:0050166 An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube. url:http://books.google.com/books?id=tuKGMxGRKa8C&pg=PA627&lpg=PA627&dq#v=onepage&q&f=false An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. GARD:8466 MIM:240300 Autoimmune Polyglandular Syndrome I Whitaker syndrome autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy disease_ontology DOID:0050167 autoimmune polyendocrine syndrome type 1 DOID:0050167 An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. url:https://rarediseases.info.nih.gov/diseases/8466/autoimmune-polyglandular-syndrome-type-1 sn:IEDB An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene. GARD:7611 MIM:269200 Schmidt syndrome disease_ontology DOID:0050168 autoimmune polyendocrine syndrome type 2 DOID:0050168 An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene. url:http://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2 sn:IEDB A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. GARD:6225 disease_ontology DOID:0050169 cutaneous lupus erythematosus DOID:0050169 A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927537/ sn:IEDB A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures. disease_ontology DOID:0050170 obsolete Jamestown Canyon encephalitis true DOID:0050170 A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Jamestown Canyon virus, which is transmitted_by Culiseta, transmitted_by Aedes, and transmitted_by Anopheles species of mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom neck stiffness, has_symptom photophobia, has_symptom nausea, has_symptom vomiting, and has_symptom seizures. url:http://www.cdc.gov/ncidod/dvbid/arbor/arboguid.pdf url:https://www.ncbi.nlm.nih.gov/pubmed/10451169 A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures. disease_ontology DOID:0050171 obsolete snowshoe hare encephalitis true DOID:0050171 A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Snowshoe hare virus, which is transmitted_by Aedes mosquitoes. The infection has_symptom headache, has_symptom fever, has_symptom anorexia, and has_symptom seizures. url:http://www.phac-aspc.gc.ca/publicat/ccdr-rmtc/07vol33/dr3311c-eng.php A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma. disease_ontology DOID:0050172 obsolete trivittatus encephalitis true DOID:0050172 A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Trivittatus virus, which is transmitted_by Ochlerotatus trivittatus mosquito. The infection has_symptom headache, has_symptom fever, has_symptom disorientation, has_symptom tremors, has_symptom convulsions, has_symptom paralysis, and has_symptom coma. url:http://books.google.com/books?id=GcvRX19C3C8C&pg=PA235&lpg#v=onepage&q=&f=false url:http://www.epi.state.nc.us/epi/gcdc/manual/casedefs/ENCEPHALITIS,ARBOVIRAL_CD.pdf url:http://www.health.state.ny.us/diseases/communicable/arboviral/fact_sheet.htm url:https://www.ncbi.nlm.nih.gov/pubmed/10025535 A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures. disease_ontology DOID:0050173 obsolete inkoo encephalitis true DOID:0050173 A California virus encephalitis that results_in inflammation located_in brain, has_material_basis_in Inkoo virus, which is transmitted_by Ochlerotatus communis mosquito. The infection has_symptom stiff neck, has_symptom lethargy, has_symptom headache, has_symptom fever, and has_symptom seizures. url:http://birdflubook.com/resources/0Kallio-Kokkoxxx.pdf url:http://en.wikipedia.org/wiki/California_encephalitis_virus url:http://www.ncbi.nlm.nih.gov/sites/entrez/8760424 url:https://www.ncbi.nlm.nih.gov/pubmed/10025535 A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus (Orthoflavivirus nilense), which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy. disease_ontology DOID:0050174 Kunjin encephalitis DOID:0050174 A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus (Orthoflavivirus nilense), which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy. url:https://pubmed.ncbi.nlm.nih.gov/2552010/ url:https://www.health.nsw.gov.au/Infectious/factsheets/Pages/kunjin_virus.aspx A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus (Orthoflavivirus encephalitidis), which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. DOID:0050176 DOID:10251 DOID:10252 GARD:5216 ICD10CM:A84.1 ICD9CM:063.2 MESH:D004675 SNOMEDCT_US_2023_03_01:16901001 UMLS_CUI:C0014054 Central European encephalitis Far Eastern TBE Russian spring-summer encephalitis Siberian tick-borne encephalitis Taiga encephalitis Western European tick-borne encephalitis west-Siberian encephalitis disease_ontology DOID:0050175 tick-borne encephalitis DOID:0050175 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus (Orthoflavivirus encephalitidis), which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. url:https://en.wikipedia.org/wiki/Tick-borne_encephalitis url:https://www.cdc.gov/tick-borne-encephalitis/about/ url:https://www.ecdc.europa.eu/en/tick-borne-encephalitis A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. disease_ontology DOID:0050177 monogenic disease DOID:0050177 A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. url:https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele). disease_ontology DOID:0050178 obsolete complex genetic disease true DOID:0050178 A genetic disease that require multiple abnormal alleles to manifest are complex. These diseases are termed multifactorial or polygenic. Expressivity or penetrance of the disease is complex and is associated with multiple genes in combination with lifestyle and environmental factors. Multifactoral genetic diseases include heart disease and diabetes, although a subset of diabetes may be classified as a monogenic disease (due to the presence of a single abnormal allele). DO:wk A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus (Orthoflavivirus powassanense), which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma. disease_ontology DOID:0050179 Powassan encephalitis DOID:0050179 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus (Orthoflavivirus powassanense), which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma. url:https://pmc.ncbi.nlm.nih.gov/articles/PMC9494578/ url:https://www.cdc.gov/powassan/about/ url:https://www.ncbi.nlm.nih.gov/articles/PMC5732952/ url:https://www.ncbi.nlm.nih.gov/books/NBK570599/ A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss. disease_ontology DOID:0050180 obsolete Colorado tick fever encephalitis true DOID:0050180 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Colorado tick fever virus which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom stiff neck, has_symptom chills, has_symptom hallucinations, has_symptom disorientation, and has_symptom memory loss. url:http://www.ncbi.nlm.nih.gov/sites/entrez/2838146 url:https://www.ncbi.nlm.nih.gov/pubmed/13894744 A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations. disease_ontology DOID:0050181 obsolete Herpes simplex virus encephalitis true DOID:0050181 A Simplexvirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom headache, has_symptom fever, has_symptom personality and behavioral changes, has_symptom seizures, has_symptom partial paralysis, and has_symptom hallucinations. url:http://www.ninds.nih.gov/disorders/encephalitis_meningitis/detail_encephalitis_meningitis.htm A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias. DOID:8698 Herpes zoster encephalitis Postchickenpox encephalitis Varicella Zoster Encephalitis postvaricella encephalitis disease_ontology DOID:0050182 obsolete Varicella-zoster virus encephalitis true DOID:0050182 A Varicellovirus infectious disease that results_in infection located_in brain, has_material_basis_in Human herpesvirus 3 and has_symptom lethargy, has_symptom rash, has_symptom confusion, has_symptom hallucinations, has_symptom weakness, has_symptom paralysis, has_symptom numbness, and has_symptom parasthesias. url:http://journals.lww.com/infectdis/Fulltext/2007/07000/Herpes_Zoster_Encephalitis__2_Case_Reports_and.19.aspx url:https://www.ncbi.nlm.nih.gov/pubmed/6273449 An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia. disease_ontology DOID:0050183 obsolete Epstein-Barr virus encephalitis true DOID:0050183 An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia. url:http://www.aafp.org/afp/20000201/letters.html url:http://www.cdc.gov/ncidod/eid/vol9no2/02-0218.htm A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia. DOID:9127 Post measles encephalitis (disorder) Post-measles encephalitis postmeasles encephalitis disease_ontology DOID:0050184 obsolete Measles virus encephalitis true DOID:0050184 A Measles virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom headache, has_symptom irritability, has_symptom drowsiness, has_symptom abnormal reflexes, has_symptom involuntary movements, has_symptom hemiplagia, has_symptom ataxia, has_symptom nystagmus, and has_symptom dysphasia. url:http://www.nature.com/nrneurol/journal/v5/n3/full/ncpneuro1043.html url:http://www.springerlink.com/content/2020124072032058/ A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. GARD:6372 MESH:D004892 disease_ontology DOID:0050185 erythema multiforme DOID:0050185 A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. url:http://www.nlm.nih.gov/medlineplus/ency/article/000851.htm A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies. disease_ontology DOID:0050186 obsolete Cytomegalovirus encephalitis true DOID:0050186 A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies. url:https://www.ncbi.nlm.nih.gov/pubmed/8815757 A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma. DOID:9231 disease_ontology DOID:0050187 obsolete Rubella virus encephalitis true DOID:0050187 A Rubella virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom confusion, has_symptom drowsiness, has_symptom delirium, has_symptom convulsions, has_symptom cranial nerve palsies, and has_symptom coma. url:http://www.ncbi.nlm.nih.gov/sites/entrez/13489263 An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma. disease_ontology DOID:0050188 obsolete coxsackievirus encephalitis true DOID:0050188 An Enterovirus infectious disease that involves inflammation located_in brain, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom reduced level of consciousness, has_symptom confusion, has_symptom irritability, has_symptom seizures, and has_symptom coma. url:https://www.ncbi.nlm.nih.gov/pubmed/14464001 An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma. disease_ontology DOID:0050189 obsolete polioencephalitis true DOID:0050189 An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma. url:https://www.ncbi.nlm.nih.gov/pubmed/13436875 An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures. disease_ontology DOID:0050190 obsolete adenovirus encephalitis true DOID:0050190 An adenovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in Human adenovirus 2 or has_material_basis_in Human adenovirus 4. The symptoms include fever, stupor, nuchal rigidity, loss of consciousness and seizures. url:http://cid.oxfordjournals.org/content/31/3/830.full url:http://www.medscape.com/viewarticle/414625 url:https://www.ncbi.nlm.nih.gov/pubmed/15560392 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies. disease_ontology DOID:0050191 obsolete influenza virus encephalitis true DOID:0050191 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Influenza A virus or has_material_basis_in Influenza B virus, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. The infection has_symptom fever, has_symptom reduced consciousness, and has_symptom ocular muscle palsies. url:http://www.ncbi.nlm.nih.gov/sites/entrez/2053792 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus (Henipavirus nipahense), which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma. MESH:D045464 SNOMEDCT_US_2025_05_01:721791005 UMLS_CUI:C4303115 disease_ontology DOID:0050192 Nipah virus encephalitis ORDO:99825 SNOMEDCT_US_2025_05_01:406597005 UMLS_CUI:C1320202 MESH:D045464 UMLS_CUI:C4303115 DOID:0050192 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus (Henipavirus nipahense), which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma. url:https://pmc.ncbi.nlm.nih.gov/articles/PMC9345211/ url:https://www.cdc.gov/nipah-virus/about/ url:https://www.ncbi.nlm.nih.gov/books/NBK570576/ url:https://www.ncbi.nlm.nih.gov/pubmed/19141846 url:https://www.who.int/csr/disease/nipah/en/ A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. disease_ontology DOID:0050193 obsolete Lymphocytic choriomeningitis virus encephalitis true DOID:0050193 A lymphocytic choriomeningitis that results_in inflammation located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. disease_ontology DOID:0050194 Argentine hemorrhagic fever DOID:0050194 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. url:http://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever url:http://www.jstor.org/stable/30129873?seq=1 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus machupoense, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts. disease_ontology DOID:0050195 Bolivian hemorrhagic fever DOID:0050195 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus machupoense, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts. url:http://www.cdc.gov/ncidod/eid/vol1no3/kilgore.htm A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus guanaritoense, which is transmitted_by cotton rat, Sigmodon alstoni or transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia. disease_ontology DOID:0050196 Venezuelan hemorrhagic fever DOID:0050196 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus guanaritoense, which is transmitted_by cotton rat, Sigmodon alstoni or transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia. url:https://pubmed.ncbi.nlm.nih.gov/34917387/ url:https://pubmed.ncbi.nlm.nih.gov/7840443/ A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus brazilense, which is transmitted by rodents. The infection has symptom fever, has symptom eye redness, has symptom fatigue, has symptom dizziness, has symptom muscle aches, has symptom loss of strength, and has symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears. disease_ontology DOID:0050197 Brazilian hemorrhagic fever DOID:0050197 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus brazilense, which is transmitted by rodents. The infection has symptom fever, has symptom eye redness, has symptom fatigue, has symptom dizziness, has symptom muscle aches, has symptom loss of strength, and has symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears. url:http://en.wikipedia.org/wiki/Brazilian_hemorrhagic_fever url:http://www.ncbi.nlm.nih.gov/sites/entrez/18421377 url:https://www.ncbi.nlm.nih.gov/pubmed/7905555 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus chapareense. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding. disease_ontology DOID:0050198 Chapare hemorrhagic fever DOID:0050198 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus chapareense. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding. url:http://www.ncbi.nlm.nih.gov/sites/entrez/18421377 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus whitewaterense, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations. disease_ontology DOID:0050199 Whitewater Arroyo hemorrhagic fever DOID:0050199 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus whitewaterense, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations. url:http://jama.ama-assn.org/cgi/content/full/284/10/1237 url:http://www.ncbi.nlm.nih.gov/sites/entrez/1799746 A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload. disease_ontology DOID:0050200 Korean hemorrhagic fever DOID:0050200 A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload. url:http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false url:http://www.cdc.gov/mmwr/preview/mmwrhtml/00051521.htm url:https://www.ncbi.nlm.nih.gov/pubmed/1349231 A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Orthohantavirus puumalaense, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. disease_ontology DOID:0050201 nephropathia epidemica DOID:0050201 A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Orthohantavirus puumalaense, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. url:https://www.ncbi.nlm.nih.gov/pubmed/1349231 url:https://www.ncbi.nlm.nih.gov/pubmed/2574903 url:https://www.ncbi.nlm.nih.gov/pubmed/2902106 A viral infectious disease that results_in infection, has_material_basis_in Lujo virus (Mammarenavirus lujoense), which has_symptom bleeding. GARD:21410 MESH:C000723471 ORDO:319213 SNOMEDCT_US_2025_05_01:716585008 UMLS_CUI:C4274433 disease_ontology DOID:0050202 Lujo hemorrhagic fever DOID:0050202 A viral infectious disease that results_in infection, has_material_basis_in Lujo virus (Mammarenavirus lujoense), which has_symptom bleeding. url:https://en.wikipedia.org/wiki/Lujo_virus url:https://pmc.ncbi.nlm.nih.gov/articles/PMC4230886/ url:https://pubmed.ncbi.nlm.nih.gov/19478873/ url:https://www.cdc.gov/lujo-fever/about/ A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood. disease_ontology DOID:0050203 obsolete Cytomegalovirus hepatitis true DOID:0050203 A Cytomegalovirus infectious disease that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 5, has_symptom nausea, has_symptom vomiting, has_symptom headache, has_symptom abdominal pain, has_symptom dark urine, and has_symptom jaundice. Clinical feature includes atypical lymphocytes in the blood. url:http://en.wikipedia.org/wiki/Cytomegalovirus url:http://www.ncbi.nlm.nih.gov/sites/entrez/11380800 url:https://www.ncbi.nlm.nih.gov/pubmed/4300216 A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. disease_ontology DOID:0050204 Epstein-Barr virus hepatitis DOID:0050204 A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. url:https://www.ncbi.nlm.nih.gov/pubmed/16711324 url:https://www.ncbi.nlm.nih.gov/pubmed/17602362 A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions. disease_ontology DOID:0050205 obsolete Herpes simplex virus hepatitis true DOID:0050205 A Simplexvirus infectious disease that results_in inflammation located_in liver, has-agent Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom fever, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom herpetic lesions. url:http://jcp.bmj.com/content/46/10/968.full.pdf url:http://www.jstor.org/stable/20396832 url:https://www.ncbi.nlm.nih.gov/pubmed/16597901 url:https://www.ncbi.nlm.nih.gov/pubmed/7006542 An adenovirus infectious disease that involves inflammation of the liver caused by Human adenovirus 1, has_material_basis_in Human adenovirus 2, or has_material_basis_in Human adenovirus 5. The symptoms include fever, coagulopathy and gastrointestinal bleeding. Histopathological examination reveals widespread hepatic necrosis with hemorrhage. disease_ontology DOID:0050206 obsolete adenovirus hepatitis true DOID:0050206 A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis. disease_ontology DOID:0050207 obsolete Rubella virus hepatitis true DOID:0050207 A Rubella virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection results in hepatic necrosis. url:http://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=&f=false url:https://www.ncbi.nlm.nih.gov/pubmed/7550869 A Yellow fever virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Yellow fever virus. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom weakness, has_symptom nausea, has_symptom vomiting, has_symptom jaundice, and has_symptom hemorrhagic manifestations. disease_ontology DOID:0050208 obsolete yellow fever hepatitis true DOID:0050208 A Yellow fever virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Yellow fever virus. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom weakness, has_symptom nausea, has_symptom vomiting, has_symptom jaundice, and has_symptom hemorrhagic manifestations. url:http://books.google.com/books?id=739MM_WTJREC&pg=PA274&lpg#v=onepage&q=rubulavirus&f=false A Measles virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection causes hepatic dysfunction and has_symptom jaundice. disease_ontology DOID:0050209 obsolete Measles virus hepatitis true DOID:0050209 A Measles virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection causes hepatic dysfunction and has_symptom jaundice. url:http://books.google.com/books?id=739MM_WTJREC&pg=PA275&lpg#v=onepage&q=rubulavirus&f=false url:https://www.ncbi.nlm.nih.gov/pubmed/17068034 url:https://www.ncbi.nlm.nih.gov/pubmed/3417236 A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue. disease_ontology DOID:0050210 obsolete Varicella-zoster virus hepatitis true DOID:0050210 A Varicellovirus infectious disease that results_in inflammation located_in liver, has_material_basis_in Human herpesvirus 3, has_symptom skin rash, has_symptom oral lesions, has_symptom severe abdominal and back pain, has_symptom fever, has_symptom chills, has_symptom malaise, and has_symptom fatigue. url:http://www.ncbi.nlm.nih.gov/sites/entrez/16944014 url:http://www.ncbi.nlm.nih.gov/sites/entrez/8092915 An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus (Gammainfluenzavirus influenzae), or has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae) including subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. disease_ontology DOID:0050211 swine influenza DOID:0050211 An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus (Gammainfluenzavirus influenzae), or has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae) including subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. url:https://www.cdc.gov/swine-flu/about/index.html url:https://www.ncbi.nlm.nih.gov/pubmed/9140195 A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting. Campylobacter Gastroenteritis disease_ontology DOID:0050212 obsolete Campylobacter jejuni gastroenteritis true DOID:0050212 A primary Campylobacter infectious disease that involves inflammation of the stomach and intestines caused by Campylobacter jejuni infection, which is characterized by diarrhea (may be bloody), abdominal pain, fever and vomiting. url:https://www.ncbi.nlm.nih.gov/pubmed/17846438 A Vibrio infectious disease that involves inflammation of the stomach and intestines caused by noncholera Vibrio species like Vibrio parahaemolyticus, Vibrio fluvialis and Vibrio vulnificus. Some species produce enterotoxins, which impair intestinal absorption, resulting in watery diarrhea. The symptoms include abdominal cramps, fever, vomiting, nausea and diarrhea. disease_ontology DOID:0050213 obsolete Vibrio gastroenteritis true DOID:0050213 A Vibrio infectious disease that involves inflammation of the stomach and intestines caused by noncholera Vibrio species like Vibrio parahaemolyticus, Vibrio fluvialis and Vibrio vulnificus. Some species produce enterotoxins, which impair intestinal absorption, resulting in watery diarrhea. The symptoms include abdominal cramps, fever, vomiting, nausea and diarrhea. url:http://www.fda.gov/Food/FoodSafety/FoodborneIllness/FoodborneIllnessFoodbornePathogensNaturalToxins/BadBugBook/ucm070419.htm url:http://www.jstor.org/stable/pdfplus/30113106.pdf url:http://www.merck.com/mmpe/sec02/ch016/ch016a.html A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. ICD10CM:G70.80 ICD9CM:358.3 MESH:D015624 NCI:C3155 SNOMEDCT_US_2023_03_01:230688006 UMLS_CUI:C0022972 Eaton-Lambert syndrome LEMS Lambert-Eaton syndrome disease_ontology DOID:0050214 Lambert-Eaton myasthenic syndrome DOID:0050214 A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. url:http://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome LEMS A staphylococcal infectious disease that is caused by ingestion of food containing enterotoxins, which are produced by staphylococcal species. The symptoms include abdominal cramps, diarrhea, headache and fever. Staphylococcus Aureus Gastroenteritis disease_ontology DOID:0050215 obsolete Staphylococcus gastroenteritis true DOID:0050215 A staphylococcal infectious disease that is caused by ingestion of food containing enterotoxins, which are produced by staphylococcal species. The symptoms include abdominal cramps, diarrhea, headache and fever. url:http://www.merck.com/mmhe/sec09/ch122/ch122c.html url:http://www.springerlink.com/content/pg45520138llh128/ A primary Bacillaceae infectious disease that is caused by ingestion of food contaminated with Bacillus cereus, which produces enterotoxins in the intestine. The symptoms include vomiting, abdominal cramps, fever and diarrhea. disease_ontology DOID:0050216 obsolete Bacillus cereus gastroenteritis true DOID:0050216 A primary Bacillaceae infectious disease that is caused by ingestion of food contaminated with Bacillus cereus, which produces enterotoxins in the intestine. The symptoms include vomiting, abdominal cramps, fever and diarrhea. url:http://www.jstor.org/stable/pdfplus/30112755.pdf url:https://www.ncbi.nlm.nih.gov/pubmed/8501338 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Sapovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom diarrhea. disease_ontology DOID:0050217 obsolete Sapovirus gastroenteritis true DOID:0050217 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Sapovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, and has_symptom diarrhea. url:http://www.cdc.gov/ncidod/dvrd/revb/gastro/norovirus-factsheet.htm url:http://www0.nih.go.jp/JJID/61/438.pdf An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. human polycystic hydatid disease neotropical echinococcosis disease_ontology DOID:0050218 polycystic echinococcosis DOID:0050218 An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. url:http://en.wikipedia.org/wiki/Echinococcosis url:http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses. disease_ontology DOID:0050219 obsolete Hepeviridae infectious disease true DOID:0050219 A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses. url:http://en.wikipedia.org/wiki/Hepeviridae url:http://www.expasy.org/viralzone/all_by_species/41.html A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. The symptoms include fever, headache, cough, pleuritic chest pain, myalgia and arthralgia. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, or excreta of infected herd animals, ingestion of contaminated milk, tick bites and human to human transmission. Q fever pneumonia disease_ontology DOID:0050220 obsolete Coxiella burnetii pneumonia true DOID:0050220 A Q fever that is a zoonotic infectious disease caused by Coxiella burnetii, a bacterium which affects both humans and animals. The symptoms include fever, headache, cough, pleuritic chest pain, myalgia and arthralgia. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, or excreta of infected herd animals, ingestion of contaminated milk, tick bites and human to human transmission. url:http://en.wikipedia.org/wiki/Q_fever url:https://www.ncbi.nlm.nih.gov/pubmed/15021054 A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice. Q fever hepatitis disease_ontology DOID:0050221 obsolete Coxiella burnetii hepatitis true DOID:0050221 A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice. url:http://www.merck.com/mmpe/sec14/ch177/ch177i.html A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies. disease_ontology DOID:0050222 selective IgM deficiency disease DOID:0050222 A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies. url:http://en.wikipedia.org/wiki/IgM url:http://en.wikipedia.org/wiki/Isolated_primary_immunoglobulin_M_deficiency A candidiasis that involves inflammation of the gastric mucosa caused by Candida albicans infection. The symptoms include dyspepsia, gastric ulcers, gastric perforations, nausea and vomiting. disease_ontology DOID:0050223 obsolete candidal gastritis true DOID:0050223 A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration. disease_ontology DOID:0050224 obsolete Helicobacter heilmannii infectious disease true DOID:0050224 A primary Helicobacter infectious disease that involves inflammation of the stomach lining caused by Candidatus Helicobacter heilmannii, which is associated with peptic ulceration. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1731280/pdf/v054p00774.pdf url:https://www.ncbi.nlm.nih.gov/pubmed/10349993 An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds. disease_ontology DOID:0050225 obsolete Histoplasma capsulatum gastritis true DOID:0050225 An American histoplasmosis that results_in inflammation, located_in stomach lining in immunocompromised patients, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of gastric mass with ulceration, and results_in_formation_of hypertrophic gastric folds. url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html url:http://www.ncbi.nlm.nih.gov/sites/entrez/16377536 An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii. disease_ontology DOID:0050226 obsolete Morganella morganii intestinal infectious disease true DOID:0050226 An opportunistic bacterial infectious disease that involves infection of the intestine caused by Morganella morganii. url:http://www.ncbi.nlm.nih.gov/sites/entrez/17180585 A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain. disease_ontology DOID:0050227 obsolete Vibrio cholerae O139 cholera true DOID:0050227 A cholera that involves infection of the intestine caused by Vibrio cholerae O139 strain. url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html#agent An amebiasis that involves infection of the intestine with Entamoeba histolytica trophozoites, which adhere to and kill colonic epithelial cells causing diarrhea with blood and mucus. The symptoms inlcude abdominal pain and fever. Entamoeba histolytica dysentery amebic dysentery amoebic dysentery disease_ontology DOID:0050228 obsolete amebic dysentery true DOID:0050228 An amebiasis that involves infection of the intestine with Entamoeba histolytica trophozoites, which adhere to and kill colonic epithelial cells causing diarrhea with blood and mucus. The symptoms inlcude abdominal pain and fever. url:http://www.merck.com/mmpe/sec14/ch185/ch185b.html An enteroinvasive Escherichia coli infectious disease that involves infection of the intestine caused by enteroinvasive Escherichia coli. The symptoms include fever, bloody diarrhea, and dehydration. disease_ontology DOID:0050229 obsolete Escherichia coli dysentery true DOID:0050229 An enteroinvasive Escherichia coli infectious disease that involves infection of the intestine caused by enteroinvasive Escherichia coli. The symptoms include fever, bloody diarrhea, and dehydration. url:http://emedicine.medscape.com/article/217485-overview url:http://www.jstor.org/stable/pdfplus/30112505.pdf A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea. disease_ontology DOID:0050230 obsolete intestinal capillariasis true DOID:0050230 A capillariasis that involves infection of the intestine with Capillaria causing abdominal pain, weight loss, stomach growling, depressed levels of potassium and albumin in the blood, and diarrhea. url:http://en.wikipedia.org/wiki/Intestinal_capillariasis url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly. disease_ontology DOID:0050231 obsolete hepatic capillariasis true DOID:0050231 A capillariasis that involves infection of the liver with Capillaria, which manifests as an acute or subacute hepatitis with eosinophilia. The symptoms include abdominal pain, fever, chills, hepatitis, ascites, hepatolithiasis, and hepatomegaly. url:http://en.wikipedia.org/wiki/Capillaria_hepatica url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia. disease_ontology DOID:0050232 obsolete pulmonary capillariasis true DOID:0050232 A capillariasis that involves infection of the lungs with Capillaria, resulting in fever, cough, asthma, and pneumonia. url:http://www.dpd.cdc.gov/DPDx/HTML/Capillariasis.htm A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals. disease_ontology DOID:0050233 obsolete Balamuthia mandrillaris infectious disease true DOID:0050233 A parasitic protozoa infectious disease that involves infection caused by a free-living ameba Balamuthia mandrillaris resulting in encephalitis and skin lesions in humans and animals. url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5728a2.htm A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system. DOID:11334 free-living ameba infectious disease disease_ontology DOID:0050234 obsolete Acanthamoeba infectious disease true DOID:0050234 A parasitic protozoa infectious disease that involves an infection in humans and animals caused by a parasitic protozoan of genus Acanthamoeba, which is an opportunistic pathogen occuring in patients with weakened immune system. url:http://en.wikipedia.org/wiki/Acanthamoeba A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes. disease_ontology DOID:0050235 obsolete Alveolata infectious disease true DOID:0050235 A parasitic protozoa infectious disease that involves infection caused by alveolates, which are single-celled eukaryotes. url:http://en.wikipedia.org/wiki/Alveolata A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage. disease_ontology DOID:0050236 obsolete Heterolobosea infectious disease true DOID:0050236 A parasitic protozoa infectious disease that involves infection caused by the members of the class Heterolobosea, which move with eruptive bulges and show transformation to a temporary flagellate stage. url:http://tolweb.org/Heterolobosea/96360 A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates. disease_ontology DOID:0050237 obsolete Euglenozoa infectious disease true DOID:0050237 A parasitic protozoa infectious disease that involves infection caused by euglenozoans, which are single-celled flagellates. url:http://en.wikipedia.org/wiki/Euglenozoa A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans. disease_ontology DOID:0050238 obsolete Parabasalia infectious disease true DOID:0050238 A parasitic protozoa infectious disease that involves infection caused by parabasalids, which are anaerobic flagellated protozoans. url:http://en.wikipedia.org/wiki/Parabasalid A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell. disease_ontology DOID:0050239 obsolete Fornicata infectious disease true DOID:0050239 A parasitic protozoa infectious disease that involves infection caused by fornicates, which are unicellular flagellates with one or two karyomastigonts per cell. url:http://tolweb.org/Fornicata/121182 A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole. disease_ontology DOID:0050240 obsolete Trichomonadida infectious disease true DOID:0050240 A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Trichomonadida. They typically have four to six flagella at the cell's apical pole. url:http://en.wikipedia.org/wiki/Trichomonad A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body. disease_ontology DOID:0050241 obsolete Tritrichomonadida infectious disease true DOID:0050241 A Parabasalia infectious disease that involves infection with anaerobic flagellate parasites belonging to the order Tritrichomonadida, which are characterized by a single mastigont with four flagella, and both a comb-like structure and an infrakinetosomal body. url:http://www.ncbi.nlm.nih.gov/sites/entrez/20093080 A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma. GARD:9554 Naegleria fowleri infection disease_ontology DOID:0050242 primary amebic meningoencephalitis DOID:0050242 A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma. url:http://en.wikipedia.org/wiki/Primary_amoebic_meningoencephalitis url:http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans. disease_ontology DOID:0050243 obsolete Apicomplexa infectious disease true DOID:0050243 An Alveolata infectious disease that involves infection caused by the members of the phylum Apicomplexa, which are unicellular, spore forming parasites of animals and humans. url:http://en.wikipedia.org/wiki/Apicomplexa An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans. disease_ontology DOID:0050244 obsolete Coccidia infectious disease true DOID:0050244 An Apicomplexa infectious disease that involves infection caused by the members of the class Coccidia, which are spore-forming, single-celled and obligate intracellular parasites of the intestinal tract of animals and humans. url:http://en.wikipedia.org/wiki/Coccidia An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida. disease_ontology DOID:0050245 obsolete Aconoidasida infectious disease true DOID:0050245 An Apicomplexa infectious disease that involves infection caused by the members of the class Aconoidasida. url:http://en.wikipedia.org/wiki/Aconoidasida A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death. GARD:12651 Acanthamoeba encephalitis Acanthamoeba granulomatous encephalitis Granulomatous Amebic Encephalitis due to Acanthamoeba granulomatous amoebic encephalitis disease_ontology DOID:0050246 granulomatous amebic encephalitis DOID:0050246 A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death. url:http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms. disease_ontology DOID:0050247 obsolete parasitic stramenopiles infectious disease true DOID:0050247 A parasitic infectious disease that involves infection caused by parasitic members of the taxon stramenopiles, in which the flagellate cells possess two different shaped flagella. This taxon contains both unicellular and multicellular organisms. url:http://en.wikipedia.org/wiki/Stramenopiles A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema. disease_ontology DOID:0050249 obsolete Brugia timori filariasis true DOID:0050249 A filarial elephantiasis that involves parasitic infection by the nematode Brugia timori, which inhabits the lymphatics. The symptoms include fever and chronic lymphedema. url:http://en.wikipedia.org/wiki/Brugia_timori A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction. disease_ontology DOID:0050250 philophthalmiasis DOID:0050250 A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction. url:http://www.dpd.cdc.gov/dpdx/HTML/Philophthalmiasis.htm A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections. disease_ontology DOID:0050251 coenurosis DOID:0050251 A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections. url:https://en.wikipedia.org/wiki/Coenurosis url:https://www.cdc.gov/dpdx/coenurosis/index.html A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness. disease_ontology DOID:0050252 obsolete Dipylidium caninum infectious disease true DOID:0050252 A parasitic helminthiasis infectious disease that involves parasitic infection in dogs, cats and humans caused by cysticercoid larvae of Dipylidium caninum through ingestion of larvae contaminated flea, which results in diarrhea and restlessness. url:http://en.wikipedia.org/wiki/Dipylidium_caninum url:http://www.dpd.cdc.gov/dpdx/HTML/Dipylidium.htm A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting. disease_ontology DOID:0050253 mesocestoidiasis DOID:0050253 A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting. url:http://www.dpd.cdc.gov/dpdx/HTML/Mesocestoidiasis.htm A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools. disease_ontology DOID:0050254 acanthocephaliasis DOID:0050254 A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools. url:https://www.cdc.gov/dpdx/acanthocephaliasis/index.html A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections. disease_ontology DOID:0050255 obsolete Uncinaria stenocephala infectious disease true DOID:0050255 A parasitic helminthiasis infectious disease that involves infection of the small intestine in humans, cats, dogs and foxes by the nematode Uncinaria stenocephala. The symptoms include diarrhea and hypoproteinemia in heavier infections. url:http://en.wikipedia.org/wiki/Uncinaria_stenocephala A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. GARD:683 MESH:C536369 disease_ontology DOID:0050256 angiostrongyliasis DOID:0050256 A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. url:https://en.wikipedia.org/wiki/Angiostrongyliasis An angiostrongyliasis that involves infection of the brain by the larvae of Angiostrongylus cantonensis causing eosinophilic meningitis. The symptoms include severe headache, nausea, vomiting, neck stiffness, seizures, and neurologic abnormalities. Ocular invasion by the larvae can occur. disease_ontology DOID:0050257 obsolete Angiostrongylus cantonensis infectious disease true DOID:0050257 An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity. disease_ontology DOID:0050258 obsolete Angiostrongylus costaricensis infectious disease true DOID:0050258 An angiostrongyliasis that involves infection of the intestine by Angiostrongylus costaricensis, which is characterized by the formation of granulomas with heavy eosinophilic infiltration in the abdominal cavity. url:http://www.ncbi.nlm.nih.gov/sites/entrez/5527668 A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death. disease_ontology DOID:0050259 baylisascariasis DOID:0050259 A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death. url:https://en.wikipedia.org/wiki/Baylisascaris A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys. disease_ontology DOID:0050260 dioctophymiasis DOID:0050260 A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys. url:http://www.dpd.cdc.gov/dpdx/HTML/Dioctophymiasis.htm A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs. disease_ontology DOID:0050261 thelaziasis DOID:0050261 A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs. url:http://www.dpd.cdc.gov/dpdx/HTML/Thelaziasis.htm A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity. disease_ontology DOID:0050262 obsolete Acoelomata infectious disease true DOID:0050262 A parasitic helminthiasis infectious disease that involves infection caused by parasitic worms, which are bilaterian, unsegmented, soft-bodied invertebrate animals with no body cavity. url:http://en.wikipedia.org/wiki/Flatworm A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals. disease_ontology DOID:0050263 obsolete Pseudocoelomata infectious disease true DOID:0050263 A parasitic helminthiasis infectious disease that involves infection caused by parasitic invertebrates, which have a pseudocoel. Tissue derived from mesoderm only partly lines the fluid filled body cavity of these animals. url:http://en.wikipedia.org/wiki/Body_cavity A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host. disease_ontology DOID:0050264 obsolete Acanthocephala infectious disease true DOID:0050264 A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host. url:http://en.wikipedia.org/wiki/Acanthocephala disease_ontology DOID:0050265 obsolete tick paralysis true DOID:0050265 A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo. GARD:393 MESH:D058285 disease_ontology DOID:0050266 tungiasis DOID:0050266 A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo. url:http://en.wikipedia.org/wiki/Tungiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Tungiasis.htm disease_ontology DOID:0050267 obsolete Ancylostoma caninum ancylostomiasis true DOID:0050267 A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain. disease_ontology DOID:0050268 ophthalmomyiasis DOID:0050268 A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain. url:http://en.wikipedia.org/wiki/Myiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge. ICD10CM:A59.00 MESH:D014247 NCI:C35083 urogenital trichomonas disease_ontology DOID:0050269 Trichomonas vaginalis trichomoniasis DOID:0050269 A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge. url:http://en.wikipedia.org/wiki/Trichomoniasis A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx. disease_ontology DOID:0050270 Trichomonas tenax trichomoniasis DOID:0050270 A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4222 url:http://www.ncbi.nlm.nih.gov/sites/entrez/20427914 A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members. disease_ontology DOID:0050271 obsolete cutaneous ascomycota mycosis true DOID:0050271 A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Ascomycota phylum members. url:http://en.wikipedia.org/wiki/Ascomycota A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members. disease_ontology DOID:0050272 obsolete cutaneous basidiomycota mycosis true DOID:0050272 A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members. url:http://en.wikipedia.org/wiki/Basidiomycota A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed. disease_ontology DOID:0050273 obsolete Neoscytalidium dimidiatum infectious disease true DOID:0050273 A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Neoscytalidium dimidiatum and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed. url:http://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis url:http://www.ncbi.nlm.nih.gov/sites/entrez/17641983 An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals. disease_ontology DOID:0050274 obsolete Scopulariopsis infectious disease true DOID:0050274 An opportunistic mycosis that has_material_basis_in Scopulariopsis, which results_in a systemic infection in immunocompromised individuals. url:http://www.doctorfungus.org/thefungi/scopulariopsis.htm A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed. disease_ontology DOID:0050275 obsolete onychomycosis true DOID:0050275 A dermatomycosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi which are not dermatophytes and has_symptom opaque nail, has_symptom yellow-brown nail, has_symptom crumbly nail that can separate from the nail bed. url:http://en.wikipedia.org/wiki/Onychomycosis url:http://www.doctorfungus.org/mycoses/human/other/skin_index.htm#Onychomycosis A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members. disease_ontology DOID:0050276 obsolete subcutaneous ascomycota mycosis true DOID:0050276 A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Ascomycota phylum members. url:http://en.wikipedia.org/wiki/Ascomycota url:http://en.wikipedia.org/wiki/Mycosis A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members. disease_ontology DOID:0050277 obsolete subcutaneous fungi incertae sedis mycosis true DOID:0050277 A subcutaneous mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, has_material_basis_in Fungi incertae sedis taxon members. url:http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Tree&id=112252&lvl=3&lin=f&keep=1&srchmode=1&unlock A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated. disease_ontology DOID:0050278 basidiobolomycosis DOID:0050278 A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated. url:https://en.wikipedia.org/wiki/Basidiobolomycosis An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions. disease_ontology DOID:0050279 conidiobolomycosis DOID:0050279 An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions. url:https://en.wikipedia.org/wiki/Conidiobolomycosis A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members. disease_ontology DOID:0050280 obsolete superficial ascomycota mycosis true DOID:0050280 A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Ascomycota phylum members. url:http://en.wikipedia.org/wiki/Ascomycota A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members. disease_ontology DOID:0050281 obsolete superficial basidiomycota mycosis true DOID:0050281 A superficial mycosis that results_in fungal infection of the outermost layer located_in skin and located_in hair shaft, has_material_basis_in Basidiomycota phylum members. url:http://en.wikipedia.org/wiki/Basidiomycota A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members. disease_ontology DOID:0050282 obsolete primary systemic ascomycota mycosis true DOID:0050282 A primary systemic mycosis that results_in fungal infection located_in human body, has_material_basis_in Ascomycota phylum members. url:http://en.wikipedia.org/wiki/Ascomycota url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/ A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants. disease_ontology DOID:0050283 obsolete Stachybotrys infectious disease true DOID:0050283 A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants. url:http://ntp.niehs.nih.gov/ntp/htdocs/Chem_Background/ExSumPdf/Stachybotrys.pdf url:http://www.doh.wa.gov/ehp/ts/iaq/mold-stachybotrys.pdf An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota. disease_ontology DOID:0050284 obsolete opportunistic ascomycota mycosis true DOID:0050284 An opportunistic mycosis that involves infection of the body by fungi belonging to the phylum Ascomycota. url:http://en.wikipedia.org/wiki/Ascomycota url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/ An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members. disease_ontology DOID:0050285 obsolete opportunistic basidiomycota mycosis true DOID:0050285 An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members. url:http://en.wikipedia.org/wiki/Basidiomycota url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/ An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members. disease_ontology DOID:0050286 obsolete opportunistic fungi incertae sedis mycosis true DOID:0050286 An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Fungi incertae sedis taxon members. url:http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Tree&id=112252&lvl=3&lin=f&keep=1&srchmode=1&unlock An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members. disease_ontology DOID:0050287 obsolete opportunistic microsporidia mycosis true DOID:0050287 An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Microsporidia phylum members. url:http://en.wikipedia.org/wiki/Microsporidia url:http://mycology.adelaide.edu.au/Mycoses/Opportunistic/ An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions. disease_ontology DOID:0050288 penicilliosis DOID:0050288 An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions. url:http://www.ncbi.nlm.nih.gov/sites/entrez/16418525 An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma. MESH:D060585 disease_ontology DOID:0050289 fusariosis DOID:0050289 An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma. url:https://www.ncbi.nlm.nih.gov/pubmed/14748803 An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body. MESH:D060586 disease_ontology DOID:0050290 trichosporonosis DOID:0050290 An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body. url:https://en.wikipedia.org/wiki/Trichosporonosis A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals. disease_ontology DOID:0050291 parasitic Ichthyosporea infectious disease DOID:0050291 A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals. url:http://en.wikipedia.org/wiki/Mesomycetozoea A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract. disease_ontology DOID:0050292 primary systemic mycosis DOID:0050292 A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract. url:https://dermnetnz.org/topics/skin-manifestations-of-systemic-mycoses An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed. disease_ontology DOID:0050293 obsolete Scopulariopsis brevicaulis infectious disease true DOID:0050293 An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed. url:http://www.doctorfungus.org/thefungi/Scopulariopsis_brevicaulis.htm A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface. disease_ontology DOID:0050294 obsolete Scytalidium hyalinum infectious disease true DOID:0050294 A dermatomycosis that results_in fungal infection located_in hand, foot and nail of toe by Scytalidium hyalinum, resulting_in_formation_of lesions and has_symptom keratotic plantar surface. url:http://archderm.ama-assn.org/cgi/reprint/127/7/1041.pdf url:http://www.ncbi.nlm.nih.gov/sites/entrez/444431 A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain. plaque sporotrichosis disease_ontology DOID:0050295 obsolete cutaneous sporotrichosis true DOID:0050295 A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions evolving into either smooth or verrucose painless nodules that may ulcerate and drain. url:http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Sporotrichosis/ url:http://www.doctorfungus.org/mycoses/human/sporo/sporotrichosis.htm A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite. disease_ontology DOID:0050296 obsolete Asfarviridae infectious disease true DOID:0050296 A dsDNA virus infectious disease that results_in infection in pigs, has_material_basis_in Asfarviridae viruses, which are transmitted_by soft tick bite. url:http://en.wikipedia.org/wiki/Asfarviridae disease_ontology DOID:0050297 obsolete primary Francisellaceae infectious disease true DOID:0050297 A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses. DOID:3123 DOID:3124 Adenoviridae infectious disease disease_ontology DOID:0050298 obsolete adenovirus infectious disease true DOID:0050298 A viral infectious disease that results_in infection in cattle, dogs, horses, pigs, and humans, has_material_basis_in Adenoviridae viruses. url:http://en.wikipedia.org/wiki/Adenoviridae A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus. disease_ontology DOID:0050299 obsolete Simplexvirus infectious disease true DOID:0050299 A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Simplexvirus. url:http://en.wikipedia.org/wiki/Simplexvirus A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus. disease_ontology DOID:0050300 obsolete Deltavirus infectious disease true DOID:0050300 A (-)ssRNA virus infectious disease that results_in infection located_in liver in humans, has_material_basis_in Deltavirus. url:http://en.wikipedia.org/wiki/Deltavirus A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses. disease_ontology DOID:0050301 obsolete Polyomaviridae infectious disease true DOID:0050301 A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomaviridae viruses. url:http://en.wikipedia.org/wiki/Papillomaviridae A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus. disease_ontology DOID:0050302 obsolete Varicellovirus infectious disease true DOID:0050302 A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Varicellovirus. url:http://en.wikipedia.org/wiki/Varicellovirus url:http://www.expasy.org/viralzone/all_by_species/179.html A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion. disease_ontology DOID:0050303 obsolete Hepacivirus infectious disease true DOID:0050303 A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion. url:http://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf url:http://www.expasy.org/viralzone/all_by_species/37.html A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes. MESH:D000839 disease_ontology DOID:0050304 aniseikonia DOID:0050304 A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes. url:https://en.wikipedia.org/wiki/Aniseikonia A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses. disease_ontology DOID:0050305 obsolete Arteriviridae infectious disease true DOID:0050305 A Nidovirales infectious disease that results_in infection in animals, has_material_basis_in Arteriviridae viruses. url:http://www.expasy.org/viralzone/all_by_species/28.html disease_ontology DOID:0050306 OMIM mapping confirmed by DO. [SN]. obsolete familial abdominal aortic aneurysm true DOID:0050306 A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses. disease_ontology DOID:0050307 obsolete Bornaviridae infectious disease true DOID:0050307 A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Bornaviridae viruses. url:http://en.wikipedia.org/wiki/Bornaviridae A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus (Orthoflavivirus kyasanurense), which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever. Alkhurma hemorrhagic fever disease_ontology DOID:0050308 Alkhumra hemorrhagic fever DOID:0050308 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus (Orthoflavivirus kyasanurense), which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever. url:http://en.wikipedia.org/wiki/Alkhurma_virus url:https://pmc.ncbi.nlm.nih.gov/articles/PMC11650908/ url:https://www.cdc.gov/alkhurma/about/ A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person. disease_ontology DOID:0050309 obsolete Measles virus infectious disease true DOID:0050309 A viral infectious disease that results_in infection, has_material_basis_in Measles virus, which is transmitted_by droplet spread, or trasnmitted_by contact of oronasal secretions from an infected person. url:http://en.wikipedia.org/wiki/Measles disease_ontology DOID:0050310 obsolete primary Listeriaceae infectious disease true DOID:0050310 disease_ontology DOID:0050311 obsolete primary Helicobacteraceae infectious disease true DOID:0050311 disease_ontology DOID:0050312 obsolete primary Campylobacteraceae infectious disease true DOID:0050312 disease_ontology DOID:0050313 obsolete primary Brucellaceae infectious disease true DOID:0050313 disease_ontology DOID:0050314 obsolete primary Erysipelotrichaceae infectious disease true DOID:0050314 disease_ontology DOID:0050315 obsolete commensal Clostridiaceae infectious disease true DOID:0050315 disease_ontology DOID:0050316 obsolete commensal Staphylococcaceae infectious disease true DOID:0050316 disease_ontology DOID:0050317 obsolete commensal Streptococcaceae infectious disease true DOID:0050317 disease_ontology DOID:0050318 obsolete primary Burkholderiaceae infectious disease true DOID:0050318 disease_ontology DOID:0050319 obsolete primary Legionellaceae infectious disease true DOID:0050319 disease_ontology DOID:0050320 obsolete commensal Alcaligenaceae infectious disease true DOID:0050320 disease_ontology DOID:0050321 obsolete opportunistic Pseudomonadaceae infectious disease true DOID:0050321 disease_ontology DOID:0050322 obsolete primary Vibrionaceae infectious disease true DOID:0050322 disease_ontology DOID:0050323 obsolete primary Coxiellaceae infectious disease true DOID:0050323 A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM). disease_ontology DOID:0050324 obsolete physical disorder OBSOLETED TERM true DOID:0050324 A disorder that has an available objective mechanical test (such as chemical tests or brain scans), and are diagnosed only by behavioral syndrome (such as those in the Diagnostic and Statistical Manual of Mental Disorders (DSM). url:http://en.wikipedia.org/wiki/Physical_disorder A medical disorder that is an illness caused by abnormalities in genes or chromosomes. disease_ontology DOID:0050325 obsolete genetic disorder true DOID:0050325 A medical disorder that is an illness caused by abnormalities in genes or chromosomes. url:http://en.wikipedia.org/wiki/Genetic_disorder url:http://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml Peripheral Dysostosis-Nasal Hypoplasia-Mental Retardation disease_ontology DOID:0050327 OMIM mapping confirmed by DO. [SN]. obsolete peripheral dysostosis true DOID:0050327 A hypothyroidism that is present at birth. DOID:11631 DOID:11632 GARD:1487 ICD10CM:E00.1 ICD10CM:E03.1 ICD9CM:243 MESH:D003409 MIM:PS275200 NCI:C26734 NCI:C98921 SNOMEDCT_US_2023_03_01:217710005 SNOMEDCT_US_2023_03_01:75065003 UMLS_CUI:C0010308 UMLS_CUI:C0342200 disease_ontology DOID:0050328 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital hypothyroidism DOID:0050328 A hypothyroidism that is present at birth. url:http://en.wikipedia.org/wiki/Congenital_hypothyroidism url:http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture. disease_ontology DOID:0050329 obsolete mental disorder true DOID:0050329 A disorder that is a psychological or behavioral pattern associated with distress or disability that occurs in an individual and is not a part of normal development or culture. url:http://en.wikipedia.org/wiki/Classification_of_mental_disorders url:http://en.wikipedia.org/wiki/Mental_disorder A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. MIM:149730 LEVY-HOLLISTER SYNDROME Lacrimo-auriculo-dento-digital syndrome 1 disease_ontology DOID:0050331 OMIM mapping confirmed by DO. [SN]. lacrimoauriculodentodigital syndrome 1 DOID:0050331 A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts. GARD:8651 disease_ontology DOID:0050332 OMIM mapping confirmed by DO. [SN]. enlarged vestibular aqueduct DOID:0050332 A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts. url:https://en.wikipedia.org/wiki/Enlarged_vestibular_aqueduct disease_ontology DOID:0050333 obsolete congenital anosmia true DOID:0050333 PHENYLTHIOCARBAMIDE TASTING, INCLUDED PROPYLTHIOURACIL TASTING, INCLUDED disease_ontology DOID:0050334 obsolete thiourea tasting true DOID:0050334 A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions. GARD:12299 MESH:C564243 MIM:PS608415 ORDO:75374 SNOMEDCT_US_2023_03_01:711163009 UMLS_CUI:C1842073 prolonged electroretinal response suppression disease_ontology DOID:0050335 bradyopsia DOID:0050335 A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions. url:https://medlineplus.gov/genetics/condition/bradyopsia/ url:https://www.ncbi.nlm.nih.gov/pubmed/17826834 A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis. MESH:D017674 disease_ontology DOID:0050336 hypophosphatemia DOID:0050336 A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis. url:https://en.wikipedia.org/wiki/Hypophosphatemia disease_ontology DOID:0050337 obsolete Burkholderia cepacia infectious disease true DOID:0050337 A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. disease_ontology DOID:0050338 primary bacterial infectious disease DOID:0050338 A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. url:http://en.wikipedia.org/wiki/Infectious_disease A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. disease_ontology DOID:0050339 commensal bacterial infectious disease DOID:0050339 A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. url:https://www.microbiologyinpictures.com/introduction.html url:https://www.ncbi.nlm.nih.gov/pubmed/24727150 A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. disease_ontology DOID:0050340 opportunistic bacterial infectious disease DOID:0050340 A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545 disease_ontology DOID:0050341 obsolete opportunistic Actinomycetales infectious disease true DOID:0050341 A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora. disease_ontology DOID:0050342 obsolete commensal Actinomycetales infectious disease true DOID:0050342 A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinomycetales bacteria, which are part of the normal human flora. url:http://www.sovegastro.com/pdf/ACTINOMICOSIS%20ABDOMINAL.pdf disease_ontology DOID:0050343 obsolete Gardnerella vaginalis vaginosis true DOID:0050343 disease_ontology DOID:0050344 obsolete commensal Bifidobacteriaceae infectious disease true DOID:0050344 disease_ontology DOID:0050345 obsolete primary Thermomonosporaceae infectious disease true DOID:0050345 disease_ontology DOID:0050346 obsolete primary Corynebacteriaceae infectious disease true DOID:0050346 disease_ontology DOID:0050347 obsolete primary Mycobacteriaceae infectious disease true DOID:0050347 disease_ontology DOID:0050348 obsolete primary Streptomycetaceae infectious disease true DOID:0050348 disease_ontology DOID:0050349 obsolete opportunistic Nocardiaceae infectious disease true DOID:0050349 disease_ontology DOID:0050350 obsolete primary Clostridiaceae infectious disease true DOID:0050350 disease_ontology DOID:0050351 obsolete primary Clostridium infectious disease true DOID:0050351 A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis. disease_ontology DOID:0050352 foodborne botulism DOID:0050352 A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis. url:https://www.southernnevadahealthdistrict.org/Health-Topics/foodborne-botulism/ A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins. disease_ontology DOID:0050353 wound botulism DOID:0050353 A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins. url:http://www.who.int/mediacentre/factsheets/fs270/en/ A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness. disease_ontology DOID:0050354 infant botulism DOID:0050354 A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness. url:https://www.aafp.org/afp/2002/0401/p1388.html disease_ontology DOID:0050355 obsolete opportunistic Burkholderiaceae infectious disease true DOID:0050355 disease_ontology DOID:0050357 obsolete Burkholderia cenocepacia infectious disease true DOID:0050357 disease_ontology DOID:0050358 obsolete commensal Chlamydiaceae infectious disease true DOID:0050358 disease_ontology DOID:0050359 obsolete Bilophila wadsworthia necrotizing fasciitis true DOID:0050359 disease_ontology DOID:0050360 obsolete commensal Enterobacteriaceae infectious disease true DOID:0050360 disease_ontology DOID:0050361 obsolete opportunistic Enterobacteriaceae infectious disease true DOID:0050361 disease_ontology DOID:0050362 obsolete Elizabethkingia meningoseptica infectious disease true DOID:0050362 disease_ontology DOID:0050363 obsolete Capnocytophaga canimorsus infectious disease true DOID:0050363 disease_ontology DOID:0050364 obsolete opportunistic Flavobacteriaceae infectious disease true DOID:0050364 disease_ontology DOID:0050365 obsolete Chryseobacterium indologenes infectious disease true DOID:0050365 disease_ontology DOID:0050366 obsolete Empedobacter brevis endophthalmitis true DOID:0050366 disease_ontology DOID:0050367 obsolete Myroides odoratus necrotizing fasciitis true DOID:0050367 disease_ontology DOID:0050368 obsolete commensal Fusobacteriaceae infectious disease true DOID:0050368 disease_ontology DOID:0050369 obsolete primary Mycoplasmataceae infectious disease true DOID:0050369 disease_ontology DOID:0050370 obsolete commensal Neisseriaceae infectious disease true DOID:0050370 disease_ontology DOID:0050371 obsolete commensal Pasteurellaceae infectious disease true DOID:0050371 disease_ontology DOID:0050372 obsolete commensal Haemophilus infectious disease true DOID:0050372 disease_ontology DOID:0050373 obsolete Leptospiraceae infectious disease true DOID:0050373 disease_ontology DOID:0050374 obsolete Spirochaetaceae infectious disease true DOID:0050374 disease_ontology DOID:0050375 obsolete primary Spirillaceae infectious disease true DOID:0050375 disease_ontology DOID:0050376 obsolete anaplasmosis true DOID:0050376 DOID:0050356 disease_ontology DOID:0050377 obsolete Burkholderia cepacia complex infectious disease true DOID:0050377 disease_ontology DOID:0050378 obsolete opportunistic Campylobacteraceae infectious disease true DOID:0050378 disease_ontology DOID:0050379 obsolete Campylobacter fetus infectious disease true DOID:0050379 disease_ontology DOID:0050380 obsolete Campylobacter coli infectious disease true DOID:0050380 disease_ontology DOID:0050381 obsolete Chlamydia trachomatis epididymitis true DOID:0050381 A tularemia that results_in swelling of regional lymph glands. disease_ontology DOID:0050382 glandular tularemia DOID:0050382 A tularemia that results_in swelling of regional lymph glands. url:http://www.cdc.gov/tularemia/signssymptoms/ A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss. disease_ontology DOID:0050383 typhoidal tularemia DOID:0050383 A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss. url:https://www.ncbi.nlm.nih.gov/pubmed/29635071 disease_ontology DOID:0050384 obsolete commensal Helicobacteraceae infectious disease true DOID:0050384 disease_ontology DOID:0050385 obsolete commensal Helicobacter infectious disease true DOID:0050385 disease_ontology DOID:0050386 obsolete Acinetobacter baumannii pneumonia true DOID:0050386 A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences. MIM:144700 disease_ontology DOID:0050387 OMIM mapping confirmed by DO. [SN]. nonpapillary renal cell carcinoma DOID:0050387 A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences. url:https://www.ncbi.nlm.nih.gov/pubmed/2921777 url:https://www.ncbi.nlm.nih.gov/pubmed/8415591 disease_ontology DOID:0050388 obsolete Bacteroides fragilis peritonitis true DOID:0050388 disease_ontology DOID:0050389 obsolete Capnocytophaga canimorsus meningitis true DOID:0050389 disease_ontology DOID:0050390 obsolete Capnocytophaga canimorsus endocarditis true DOID:0050390 disease_ontology DOID:0050391 obsolete Elizabethkingia meningoseptica meningitis true DOID:0050391 disease_ontology DOID:0050392 obsolete streptococcal necrotizing fasciitis true DOID:0050392 disease_ontology DOID:0050393 obsolete Chryseobacterium indologenes pneumonia true DOID:0050393 disease_ontology DOID:0050394 obsolete nocardial pneumonia true DOID:0050394 disease_ontology DOID:0050395 obsolete nocardial cellulitis true DOID:0050395 disease_ontology DOID:0050396 obsolete nocardial keratitis true DOID:0050396 disease_ontology DOID:0050397 obsolete cerebral Bilophila wadsworthia infectious disease true DOID:0050397 A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. Carrion disease Oroya fever disease_ontology DOID:0050398 Carrion's disease DOID:0050398 A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. url:http://en.wikipedia.org/wiki/Carrion%27s_disease disease_ontology DOID:0050399 obsolete Bordetella pertussis whooping cough true DOID:0050399 disease_ontology DOID:0050400 obsolete Pseudomonas urinary tract infectious disease true DOID:0050400 disease_ontology DOID:0050401 obsolete Pseudomonas endocarditis true DOID:0050401 disease_ontology DOID:0050402 obsolete Pseudomonas keratitis true DOID:0050402 disease_ontology DOID:0050403 obsolete commensal Mycoplasmatales infectious disease true DOID:0050403 disease_ontology DOID:0050404 obsolete commensal Mycoplasmataceae infectious disease true DOID:0050404 disease_ontology DOID:0050405 obsolete Mycoplasma genitalium urethritis true DOID:0050405 disease_ontology DOID:0050406 obsolete Yersinia pseudotuberculosis mesenteric lymphadenitis true DOID:0050406 disease_ontology DOID:0050407 obsolete commensal Mycoplasma infectious disease true DOID:0050407 disease_ontology DOID:0050408 obsolete Staphylococcus aureus ecthyma true DOID:0050408 disease_ontology DOID:0050409 obsolete Streptococcus pyogenes ecthyma true DOID:0050409 disease_ontology DOID:0050410 obsolete streptococcal erysipelas true DOID:0050410 disease_ontology DOID:0050411 obsolete Staphylococcus aureus erysipelas true DOID:0050411 disease_ontology DOID:0050412 obsolete Streptococcus impetigo true DOID:0050412 disease_ontology DOID:0050413 obsolete Staphylococcus aureus impetigo true DOID:0050413 disease_ontology DOID:0050414 obsolete Streptococcus lymphangitis true DOID:0050414 disease_ontology DOID:0050415 obsolete Staphylococcus aureus lymphangitis true DOID:0050415 disease_ontology DOID:0050416 obsolete Streptococcus agalactiae meningitis true DOID:0050416 Streptococcus dysgalactiae subsp. equisimilis meningitis disease_ontology DOID:0050417 obsolete Streptococcus equisimilis meningitis true DOID:0050417 Streptococcus equi subsp. zooepidemicus meningitis disease_ontology DOID:0050418 obsolete Streptococcus zooepidemicus meningitis true DOID:0050418 A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency. MESH:C572568 MIM:610984 C3 INACTIVATOR DEFICIENCY COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY disease_ontology DOID:0050419 OMIM mapping confirmed by DO. [SN]. complement factor I deficiency DOID:0050419 A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency. url:https://www.omim.org/entry/610984 disease_ontology DOID:0050420 obsolete primary Streptococcaceae infectious disease true DOID:0050420 disease_ontology DOID:0050421 obsolete primary streptococcal infectious disease true DOID:0050421 disease_ontology DOID:0050422 obsolete Yersinia pseudotuberculosis gastroenteritis true DOID:0050422 enteroaggregative E.coli infection disease_ontology DOID:0050423 obsolete enteroaggregative Escherichia coli infectious disease true DOID:0050423 An intestinal disease that is characterized by predisposition to colon cancer. GARD:6408 MESH:D011125 MIM:PS175100 NCI:C3339 ORDO:733 SNOMEDCT_US_2023_03_01:72900001 UMLS_CUI:C0032580 adenomatous polyposis of the colon disease_ontology DOID:0050424 OMIM mapping confirmed by DO. [SN]. familial adenomatous polyposis DOID:0050424 An intestinal disease that is characterized by predisposition to colon cancer. url:http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis url:https://pmc.ncbi.nlm.nih.gov/articles/PMC8256374/ url:https://www.ncbi.nlm.nih.gov/books/NBK1345/ A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. EFO:0004270 GARD:11926 ICD10CM:G25.81 ICD9CM:333.94 MESH:D012148 MIM:PS102300 NCI:C84501 SNOMEDCT_US_2023_03_01:32914008 UMLS_CUI:C0035258 WED Willis-Ekbom disease Wittmaack-Ekbom syndrome disease_ontology DOID:0050425 Xref MGI. restless legs syndrome DOID:0050425 A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. url:http://en.wikipedia.org/wiki/Restless_legs_syndrome url:http://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm WED A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection. EFO:0004276 GARD:7700 ICD10CM:L51.1 ICD9CM:695.13 MESH:D013262 NCI:C79484 SNOMEDCT_US_2023_03_01:73442001 UMLS_CUI:C0038325 disease_ontology DOID:0050426 Stevens-Johnson syndrome MESH:D013262 DOID:0050426 A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection. url:https://en.wikipedia.org/wiki/Stevens%E2%80%93Johnson_syndrome A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. GARD:7910 ICD10CM:Q82.1 MESH:D014983 NCI:C3452 ORDO:910 SNOMEDCT_US_2023_03_01:44600005 UMLS_CUI:C0043346 disease_ontology DOID:0050427 OMIM mapping confirmed by DO. [SN]. xeroderma pigmentosum DOID:0050427 A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. MESH:C563422 UMLS_CUI:C1833030 NEPPK Thost-Unna Syndrome Unna-Thost Syndrome diffuse nonepidermolytic palmomplantar keratoderma tylosis disease_ontology DOID:0050428 nonepidermolytic palmoplantar keratoderma MESH:C563422 UMLS_CUI:C1833030 DOID:0050428 A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. url:http://en.wikipedia.org/wiki/Palmoplantar_keratoderma NEPPK A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected. GARD:6559 ICD10CM:Q82.8 MESH:D016506 MIM:169600 NCI:C82865 SNOMEDCT_US_2023_03_01:79468000 UMLS_CUI:C0085106 BENIGN CHRONIC PEMPHIGUS Pemphigus, Benign Familial disease_ontology DOID:0050429 OMIM mapping confirmed by DO. [SN]. Hailey-Hailey disease DOID:0050429 A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected. url:https://rarediseases.org/rare-diseases/hailey-hailey-disease/ A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. ICD10CM:E31.22 ICD9CM:258.02 MESH:D018813 MIM:171400 NCI:C3226 ORDO:247698 SNOMEDCT_US_2023_03_01:721188000 UMLS_CUI:C0025268 MEN2A Sipple syndrome multiple endocrine neoplasia II disease_ontology DOID:0050430 OMIM mapping confirmed by DO. [SN]. multiple endocrine neoplasia type 2A DOID:0050430 A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html url:https://www.ncbi.nlm.nih.gov/pubmed/15965261 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract MEN2A An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle. MESH:D019571 MIM:PS107970 NCI:C84571 ORDO:217656 ORDO:247 SNOMEDCT_US_2023_03_01:281170005 UMLS_CUI:C0349788 ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM disease_ontology DOID:0050431 Xref MGI. OMIM mapping confirmed by DO. [SN]. arrhythmogenic right ventricular cardiomyopathy DOID:0050431 An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle. url:http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia url:http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy url:http://my.clevelandclinic.org/services/heart/disorders/arvd url:http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html url:https://pubmed.ncbi.nlm.nih.gov/31637441/ ARVC ARVD An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. GARD:5855 ICD10CM:F84.5 MESH:D020817 MIM:608631 MIM:608638 MIM:608781 MIM:609954 MIM:PS608638 NCI:C97159 ORDO:1162 SNOMEDCT_US_2023_03_01:154879004 UMLS_CUI:C0236792 disease_ontology DOID:0050432 Multiple OMIM IDs are susceptibility terms [LS] Asperger syndrome DOID:0050432 An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. url:http://en.wikipedia.org/wiki/Asperger_syndrome url:http://www.neurodevnet.ca A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain. GARD:6429 ICD10CM:A81.83 ICD9CM:046.72 MESH:D034062 MIM:600072 NCI:C84711 SNOMEDCT_US_2023_03_01:83157008 UMLS_CUI:C0206042 disease_ontology DOID:0050433 OMIM mapping confirmed by DO. [SN]. fatal familial insomnia DOID:0050433 A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain. url:https://en.wikipedia.org/wiki/Fatal_familial_insomnia A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. GARD:9453 MESH:D050030 MIM:170390 NCI:C84559 ORDO:37553 SNOMEDCT_US_2023_03_01:422348008 UMLS_CUI:C1563715 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Andersen syndrome LQT7 Long QT syndrome 7 Potassium-Sensitive Cardiodysrhythmic Type disease_ontology DOID:0050434 OMIM mapping confirmed by DO. [SN]. Andersen-Tawil syndrome DOID:0050434 A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. url:http://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome url:http://en.wikipedia.org/wiki/Long_QT_syndrome LQT7 A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene. GARD:95 MESH:D050336 MIM:253250 NCI:C84906 ORDO:2576 SNOMEDCT_US_2023_03_01:81604003 UMLS_CUI:C0524582 MUL Mulibrey growth disorder Muscle-Liver-Brain-Eye Nanism PERICARDIAL CONSTRICTION AND GROWTH FAILURE Perheentupa Syndrome disease_ontology DOID:0050436 OMIM mapping confirmed by DO. [SN]. mulibrey nanism DOID:0050436 A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene. url:https://rarediseases.org/rare-diseases/mulibrey-nanism/ MUL A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. GARD:9730 MESH:D052120 MIM:300257 NCI:C84735 SNOMEDCT_US_2023_03_01:419097006 UMLS_CUI:C0878677 ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II disease_ontology DOID:0050437 OMIM mapping confirmed by DO. [SN]. Danon disease DOID:0050437 A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. url:https://rarediseases.org/rare-diseases/danon-disease/ A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene. GARD:2375 MESH:D052159 MIM:136680 NCI:C122805 SNOMEDCT_US_2023_03_01:445431000 UMLS_CUI:C0950122 disease_ontology DOID:0050438 OMIM mapping confirmed by DO. [SN]. Frasier syndrome DOID:0050438 A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene. url:https://ghr.nlm.nih.gov/condition/frasier-syndrome A syndrome characterized by a combination of hearing loss and visual impairment. GARD:7843 MESH:D052245 MIM:PS276900 NCI:C85217 ORDO:886 SNOMEDCT_US_2023_03_01:57838006 UMLS_CUI:C0271097 disease_ontology DOID:0050439 Xref MGI. OMIM mapping confirmed by DO. [LS]. Usher syndrome DOID:0050439 A syndrome characterized by a combination of hearing loss and visual impairment. url:http://en.wikipedia.org/wiki/Usher_syndrome A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. GARD:11962 MESH:D052496 MIM:PS151660 NCI:C165527 NCI:C84708 ORDO:98306 SNOMEDCT_US_2023_03_01:1197745002 SNOMEDCT_US_2023_03_01:49292002 SNOMEDCT_US_2023_03_01:715439000 SNOMEDCT_US_2023_03_01:725035001 UMLS_CUI:C0271694 UMLS_CUI:C1720859 UMLS_CUI:C1720860 UMLS_CUI:C1720861 Dunnigan Syndrome Koberling-Dunnigan Syndrome disease_ontology DOID:0050440 Xref MGI. OMIM mapping confirmed by DO. [SN]. familial partial lipodystrophy DOID:0050440 A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. url:http://en.wikipedia.org/wiki/Familial_partial_lipodystrophy url:http://omim.org/entry/608600 A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes. ICD10CM:E75.26 MESH:D052517 MIM:272200 NCI:C84908 SNOMEDCT_US_2023_03_01:254076009 SNOMEDCT_US_2023_03_01:54898003 UMLS_CUI:C0268263 UMLS_CUI:C1720864 Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease disease_ontology DOID:0050441 OMIM mapping confirmed by DO. [SN]. mucosulfatidosis DOID:0050441 A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes. url:https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes. ICD10CM:G60.1 MESH:D052919 NCI:C84789 SNOMEDCT_US_2023_03_01:238062008 UMLS_CUI:C0282527 infantile phytanic acid storage disease disease_ontology DOID:0050444 OMIM mapping confirmed by DO. [SN]. infantile Refsum disease DOID:0050444 A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes. url:https://en.wikipedia.org/wiki/Infantile_Refsum_disease url:https://www.ncbi.nlm.nih.gov/books/NBK560618/ A rickets that has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. GARD:12943 MESH:D053098 MIM:307800 NCI:C85234 UMLS_CUI:C0733682 UMLS_CUI:C1845168 UMLS_CUI:C3540852 Hypophosphatemia, Vitamin D-Resistant Rickets Vitamin D-Resistant Rickets, X-Linked X-linked dominant hypophosphatemic rickets X-linked hypophosphatemia hypophosphatemic rickets X-linked dominant disease_ontology DOID:0050445 OMIM mapping confirmed by DO. [SN]. X-linked hypophosphatemic rickets DOID:0050445 A rickets that has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. url:http://en.wikipedia.org/wiki/X-linked_hypophosphatemia url:https://www.ncbi.nlm.nih.gov/books/NBK83985/ A skin disease characterized by a defect in the normal process of keratinization of the mucosa. GARD:8501 MESH:D053529 MIM:PS193900 NCI:C84760 ORDO:171723 SNOMEDCT_US_2023_03_01:85388002 UMLS_CUI:C1721005 hereditary mucosal leukokeratosis white sponge nevus of Cannon disease_ontology DOID:0050448 2023 nomenclature update to white sponge nevus. white sponge nevus DOID:0050448 A skin disease characterized by a defect in the normal process of keratinization of the mucosa. url:http://en.wikipedia.org/wiki/White_sponge_nevus url:https://pubmed.ncbi.nlm.nih.gov/29034652/ A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin. GARD:10753 MESH:D053549 MIM:PS167200 NCI:C84986 ORDO:2309 SNOMEDCT_US_2023_03_01:39427000 UMLS_CUI:C0265334 UMLS_CUI:C1706595 UMLS_CUI:C1721007 Jackson-Lawler Type Pachyonychia Congenita Jadassohn-Lewandowsky Syndrome PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE Pachyonychia Congenita Type 1 disease_ontology DOID:0050449 OMIM mapping confirmed by DO. [SN]. pachyonychia congenita DOID:0050449 A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin. url:https://ghr.nlm.nih.gov/condition/pachyonychia-congenita A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). GARD:8547 MESH:D053579 MIM:263800 NCI:C84730 SNOMEDCT_US_2023_03_01:3188003 UMLS_CUI:C0268450 HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA disease_ontology DOID:0050450 OMIM mapping confirmed by DO. [SN]. Gitelman syndrome DOID:0050450 A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). url:https://ghr.nlm.nih.gov/condition/gitelman-syndrome A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. GARD:1030 ICD10CM:I49.8 MESH:D053840 MIM:PS601144 NCI:C142891 ORDO:130 SNOMEDCT_US_2023_03_01:418818005 UMLS_CUI:C1142166 UMLS_CUI:C1721096 Bangungut Brugada type idiopathic ventricular fibrillation Dream disease Pokkuri death syndrome SUNDS sudden unexplained nocturnal death syndrome disease_ontology DOID:0050451 OMIM mapping confirmed by DO. [SN]. Brugada syndrome DOID:0050451 A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. url:http://en.wikipedia.org/wiki/Brugada_syndrome SUNDS A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis. GARD:3588 ICD10CM:M04.1 MESH:D054078 MIM:610377 NCI:C84890 ORDO:29 SNOMEDCT_US_2023_03_01:124327008 SNOMEDCT_US_2023_03_01:234538002 UMLS_CUI:C0342731 UMLS_CUI:C0398691 UMLS_CUI:C1959626 Mevalonate Kinase Deficiency disease_ontology DOID:0050452 OMIM mapping confirmed by DO. [SN]. mevalonic aciduria DOID:0050452 A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis. url:https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. GARD:12291 ICD10CM:Q04.3 MESH:D054082 MIM:PS607432 NCI:C103921 ORDO:102009 SNOMEDCT_US_2023_03_01:204036008 SNOMEDCT_US_2023_03_01:23024003 UMLS_CUI:C0266463 UMLS_CUI:C0266483 disease_ontology DOID:0050453 Xref MGI. OMIM mapping confirmed by DO. [SN]. lissencephaly DOID:0050453 A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. url:http://en.wikipedia.org/wiki/Lissencephaly url:http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. MESH:D054091 MIM:300049 MIM:608097 MIM:608098 MIM:612881 MIM:615544 ORDO:98892 SNOMEDCT_US_2023_03_01:448227009 SNOMEDCT_US_2023_03_01:816068000 UMLS_CUI:C1848213 UMLS_CUI:C1868720 periventricular heterotopia disease_ontology DOID:0050454 Xref MGI. OMIM mapping confirmed by DO. [SN]. periventricular nodular heterotopia DOID:0050454 A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. url:http://ghr.nlm.nih.gov/condition/periventricular-heterotopia disease_ontology DOID:0050455 obsolete arachnodactyly true DOID:0050455 A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. GARD:9520 ICD10CM:A31.1 MESH:D054312 NCI:C84604 SNOMEDCT_US_2023_03_01:186343005 UMLS_CUI:C0085568 Bairnsdale ulcer Daintree ulcer Mossman ulcer Searl ulcer Searle's ulcer disease_ontology DOID:0050456 Buruli ulcer disease DOID:0050456 A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. url:http://en.wikipedia.org/wiki/Buruli_ulcer url:http://www.who.int/mediacentre/factsheets/fs199/en/ A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development. GARD:8406 MESH:D054331 NCI:C168988 SNOMEDCT_US_2023_03_01:73465006 UMLS_CUI:C1384583 DEL CASTILLO SYNDROME Germinal Cell Aplasia disease_ontology DOID:0050457 OMIM mapping confirmed by DO. [SN]. Sertoli cell-only syndrome DOID:0050457 A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development. url:https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes. GARD:9884 ICD10CM:C93.3 ICDO:9946/3 MESH:D054429 MIM:607785 NCI:C9233 SNOMEDCT_US_2023_03_01:445227008 UMLS_CUI:C0349639 disease_ontology DOID:0050458 OMIM mapping confirmed by DO. [SN]. juvenile myelomonocytic leukemia DOID:0050458 A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes. url:https://rarediseases.org/rare-diseases/juvenile-myelomonocytic-leukemia/ A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene. MESH:D054559 NCI:C113750 SNOMEDCT_US_2023_03_01:20165001 UMLS_CUI:C0085681 disease_ontology DOID:0050459 hyperphosphatemia DOID:0050459 A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene. url:https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. DOID:6684 GARD:7896 ICD10CM:Q93.3 MESH:D054877 MIM:194190 NCI:C35528 ORDO:280 SNOMEDCT_US_2023_03_01:17122004 UMLS_CUI:C0796117 UMLS_CUI:C1956097 4p deletion syndrome PITT SYNDROME Pitt-Rogers-Danks Syndrome chromosome 4p16.3 deletion syndrome disease_ontology DOID:0050460 OMIM mapping confirmed by DO. [LS]. Wolf-Hirschhorn syndrome DOID:0050460 A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. url:https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. GARD:5854 ICD10CM:E77.1 MESH:D054880 MIM:208400 NCI:C61273 SNOMEDCT_US_2023_03_01:54954004 UMLS_CUI:C0268225 aspartylglucosaminidase deficiency aspartylglycosaminuria glycosylasparaginase deficiency disease_ontology DOID:0050461 OMIM mapping confirmed by DO. [SN]. aspartylglucosaminuria MESH:D054880 DOID:0050461 A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. url:https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. MIM:201750 SNOMEDCT_US_2021_09_01:62964007 trapezoidocephaly-synostosis syndrome disease_ontology DOID:0050462 OMIM mapping confirmed by DO. [SN]. Antley-Bixler syndrome with disordered steroidogenesis MESH:D054882 DOID:0050462 An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. url:http://en.wikipedia.org/wiki/Antley-Bixler_syndrome url:https://pubmed.ncbi.nlm.nih.gov/35070845/ An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. GARD:10027 MESH:D055036 MIM:114290 NCI:C120205 NCI:C84609 ORDO:140 UMLS_CUI:C1861922 UMLS_CUI:C1861923 Acampomelic Campomelic Dysplasia disease_ontology DOID:0050463 OMIM mapping confirmed by DO. [SN]. campomelic dysplasia DOID:0050463 An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. url:http://en.wikipedia.org/wiki/Campomelic_dysplasia url:http://ghr.nlm.nih.gov/condition/campomelic-dysplasia url:http://www.healthline.com/galecontent/campomelic-dysplasia-1 A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition. GARD:6426 MESH:D055577 MIM:228000 NCI:C84710 SNOMEDCT_US_2023_03_01:79935000 UMLS_CUI:C0268255 Farber disease N-laurylsphingosine deacylase deficiency acid ceramidase deficiency disease_ontology DOID:0050464 OMIM mapping confirmed by DO. [SN]. Farber lipogranulomatosis DOID:0050464 A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition. url:https://en.wikipedia.org/wiki/Farber_disease A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes. GARD:6821 MESH:D055653 MIM:158320 NCI:C84905 SNOMEDCT_US_2023_03_01:403824007 UMLS_CUI:C1321489 disease_ontology DOID:0050465 OMIM mapping confirmed by DO. [SN]. Muir-Torre syndrome DOID:0050465 A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes. url:https://en.wikipedia.org/wiki/Muir%E2%80%93Torre_syndrome A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. GARD:10788 MESH:D055947 NCI:C75006 ORDO:60030 SNOMEDCT_US_2023_03_01:446263001 UMLS_CUI:C1836635 UMLS_CUI:C2697932 disease_ontology DOID:0050466 Xref MGI. OMIM mapping confirmed by DO. [SN]. Loeys-Dietz syndrome DOID:0050466 A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. url:https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis. MESH:D056266 MIM:PS133200 NCI:C84696 ORDO:317 SNOMEDCT_US_2023_03_01:70041004 UMLS_CUI:C0265961 UMLS_CUI:C1851480 Erythrokeratodermia Figurata Variabilis Greither Disease disease_ontology DOID:0050467 OMIM mapping confirmed by DO. [SN]. erythrokeratodermia variabilis MESH:D056266 DOID:0050467 A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis. url:https://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached. GARD:184 ICD10CM:L60.5 MESH:D056684 MIM:153300 NCI:C85238 SNOMEDCT_US_2023_03_01:400211001 UMLS_CUI:C0221348 disease_ontology DOID:0050468 OMIM mapping confirmed by DO. [SN]. yellow nail syndrome DOID:0050468 A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached. url:https://www.ncbi.nlm.nih.gov/pubmed/28241848 A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. GARD:1550 MESH:D056685 MIM:218040 NCI:C84652 SNOMEDCT_US_2023_03_01:205803001 UMLS_CUI:C0587248 FCS SYNDROME Faciocutaneoskeletal Syndrome disease_ontology DOID:0050469 OMIM mapping confirmed by DO. [SN]. Costello syndrome DOID:0050469 A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. url:https://www.ncbi.nlm.nih.gov/pubmed/17250658 url:https://www.ncbi.nlm.nih.gov/pubmed/907573 A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor. MESH:D056731 MIM:246200 NCI:C131000 NCI:C84676 ORDO:508 SNOMEDCT_US_2023_03_01:111307005 SNOMEDCT_US_2023_03_01:33559001 UMLS_CUI:C0265344 UMLS_CUI:C0271695 Leprechaunism disease_ontology DOID:0050470 OMIM mapping confirmed by DO. [SN]. Donohue syndrome DOID:0050470 A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor. url:https://en.wikipedia.org/wiki/Donohue_syndrome A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. GARD:1119 MESH:D056733 MIM:160980 MIM:605244 MIM:608837 NCI:C4705 ORDO:1359 SNOMEDCT_US_2023_03_01:733491005 UMLS_CUI:C0406810 UMLS_CUI:C1854540 UMLS_CUI:C2607929 Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome disease_ontology DOID:0050471 Xref MGI. OMIM mapping confirmed by DO. [SN]. Carney complex DOID:0050471 A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. url:http://en.wikipedia.org/wiki/Carney_complex url:http://ghr.nlm.nih.gov/condition/carney-complex A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins. GARD:93 ICD10CM:Q84.1 MESH:D056734 MIM:158000 NCI:C84894 SNOMEDCT_US_2023_03_01:69488000 UMLS_CUI:C0546966 disease_ontology DOID:0050472 OMIM mapping confirmed by DO. [SN]. monilethrix DOID:0050472 A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins. url:https://ghr.nlm.nih.gov/condition/monilethrix A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. MESH:D056769 MIM:203800 NCI:C84549 SNOMEDCT_US_2023_03_01:63702009 UMLS_CUI:C0268425 disease_ontology DOID:0050473 OMIM mapping confirmed by DO. [SN]. Alstrom syndrome MESH:D056769 DOID:0050473 A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. url:http://en.wikipedia.org/wiki/Alstrom_syndrome A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin. GARD:7182 MIM:256500 ORDO:634 SNOMEDCT_US_2023_03_01:312514006 UMLS_CUI:C0265962 disease_ontology DOID:0050474 OMIM mapping confirmed by DO. [SN]. Netherton syndrome DOID:0050474 A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin. url:https://ghr.nlm.nih.gov/condition/netherton-syndrome A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. GARD:4936 MESH:D056846 MIM:277600 MIM:608328 MIM:613195 MIM:614819 MIM:PS277600 NCI:C85226 ORDO:3449 SNOMEDCT_US_2023_03_01:205801004 UMLS_CUI:C0265313 UMLS_CUI:C1869114 UMLS_CUI:C1869115 GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy disease_ontology DOID:0050475 Xref MGI. OMIM mapping confirmed by DO. [LS]. Weill-Marchesani syndrome DOID:0050475 A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. url:http://en.wikipedia.org/wiki/Weill-Marchesani_syndrome url:http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. GARD:5890 ICD10CM:E78.71 MESH:D056889 MIM:302060 NCI:C84585 ORDO:111 SNOMEDCT_US_2023_03_01:297231002 UMLS_CUI:C0574083 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type II MGA Type 2 MGA type II disease_ontology DOID:0050476 OMIM mapping confirmed by DO. [SN]. Barth syndrome MESH:D056889 DOID:0050476 A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. url:http://en.wikipedia.org/wiki/Barth_syndrome url:http://www.ninds.nih.gov/disorders/barth/barth.htm A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel. GARD:7381 MESH:D056929 MIM:177200 NCI:C84827 SNOMEDCT_US_2023_03_01:707749005 UMLS_CUI:C0221043 Liddle's syndrome Pseudoaldosteronism disease_ontology DOID:0050477 OMIM mapping confirmed by DO. [SN]. Liddle syndrome DOID:0050477 A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel. url:https://en.wikipedia.org/wiki/Liddle%27s_syndrome disease_ontology DOID:0050478 obsolete primary Escherichia coli infectious disease true DOID:0050478 Klebsiella infection disease_ontology DOID:0050479 obsolete commensal Klebsiella infectious disease true DOID:0050479 A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium. sylvatic typhus disease_ontology DOID:0050480 epidemic typhus DOID:0050480 A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium. url:http://en.wikipedia.org/wiki/Epidemic_typhus A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash. DOID:0050028 DOID:0050029 DOID:0050030 DOID:0050057 DOID:0050058 Rat-Flea Typhus Rickettsia felis spotted fever Urban Typhus of Malaya cat flea rickettsiosis fleaborne typhus murine typhus toulon typhus urban typhus disease_ontology Shop typhus DOID:0050481 endemic typhus DOID:0050481 A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash. url:http://en.wikipedia.org/wiki/Murine_typhus disease_ontology DOID:0050482 obsolete lymphangitis-associated rickettsiosis true DOID:0050482 disease_ontology DOID:0050483 obsolete Rickettsia aeschlimannii spotted fever true DOID:0050483 A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia. Rickettsia helvetica spotted fever disease_ontology DOID:0050484 aneruptive fever DOID:0050484 A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia. url:http://jcm.asm.org/cgi/reprint/42/2/816 url:http://www.cdc.gov/otherspottedfever/index.html A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia. GARD:120 MESH:C537582 Sennetsu ehrlichiosis disease_ontology DOID:0050485 sennetsu fever DOID:0050485 A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia. url:https://rarediseases.org/rare-diseases/sennetsu-fever/ A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders. ICD10CM:R21 ICD9CM:782.1 MESH:D005076 NCI:C111884 SNOMEDCT_US_2023_03_01:112625008 UMLS_CUI:C0015230 disease_ontology DOID:0050486 exanthem DOID:0050486 A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders. url:https://en.wikipedia.org/wiki/Exanthem An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin. disease_ontology DOID:0050487 bacterial exanthem DOID:0050487 An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin. url:https://en.wikipedia.org/wiki/Scarlet_fever#Rash A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis. disease_ontology DOID:0050488 early congenital syphilis DOID:0050488 A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis. url:http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html A goiter characterized by a multinodular enlargement of the thyroid gland. MIM:138800 MIM:300273 MIM:606082 MIM:PS138800 ORDO:276399 disease_ontology DOID:0050489 Xref MGI. OMIM mapping confirmed by DO. [SN]. multinodular goiter DOID:0050489 A goiter characterized by a multinodular enlargement of the thyroid gland. url:http://en.wikipedia.org/wiki/Multinodular_goitre A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy. disease_ontology DOID:0050490 parenchymatous neurosyphilis DOID:0050490 A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh A tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has _symptom poor concentration, has_symptom memory loss, has _symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries. disease_ontology DOID:0050491 meningovascular neurosyphilis DOID:0050491 A tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has _symptom poor concentration, has_symptom memory loss, has _symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh disease_ontology DOID:0050492 obsolete tertiary syphilitic encephalitis true DOID:0050492 disease_ontology DOID:0050493 obsolete tertiary syphilitic meningitis true DOID:0050493 A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses. disease_ontology DOID:0050494 obsolete Papillomaviridae infectious disease true DOID:0050494 A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Papillomaviridae viruses. url:http://en.wikipedia.org/wiki/Papillomaviridae A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human betaherpesvirus 6B (Roseolovirus humanbeta6b) or 7 (Roseolovirus humanbeta7) and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck. ICD10CM:B08.2 ICD9CM:058.1 MESH:D005077 NCI:C128420 SNOMEDCT_US_2023_03_01:54385001 UMLS_CUI:C0015231 Roseola Infantum Sixth Disease exanthem subitum disease_ontology DOID:0050495 exanthema subitum ICD10CM:B08.2 ICD9CM:058.1 MESH:D005077 NCI:C128420 UMLS_CUI:C0015231 DOID:0050495 A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human betaherpesvirus 6B (Roseolovirus humanbeta6b) or 7 (Roseolovirus humanbeta7) and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck. url:http://en.wikipedia.org/wiki/Exanthema_subitum url:https://www.ncbi.nlm.nih.gov/books/NBK448190/ A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache. disease_ontology DOID:0050496 obsolete Banna virus encephalitis true DOID:0050496 A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses. disease_ontology DOID:0050497 obsolete Anelloviridae infectious disease true DOID:0050497 A ssDNA virus infectious disease that results_in infection in humans, has_material_basis_in Anelloviridae viruses. url:http://en.wikipedia.org/wiki/Anelloviridae A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA. double stranded DNA virus infectious disease dsDNA virus infection disease_ontology DOID:0050498 obsolete dsDNA virus infectious disease true DOID:0050498 A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA viruses, which possess double-stranded DNA. url:http://en.wikipedia.org/wiki/Viral_classification A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA. single stranded DNA virus infectious disease ssDNA virus infection disease_ontology DOID:0050499 obsolete ssDNA virus infectious disease true DOID:0050499 A DNA virus infectious disease that results_in infection, has_material_basis_in ssDNA viruses, which possess single-stranded DNA. url:http://en.wikipedia.org/wiki/Viral_classification A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase. double stranded DNA reverse transcribing virus infectious disease double stranded DNA-reverse transcribing virus infection dsDNA-RT virus infection disease_ontology DOID:0050500 obsolete dsDNA-RT virus infectious disease true DOID:0050500 A DNA virus infectious disease that results_in infection, has_material_basis_in dsDNA retro-transcribing viruses, which possess double-stranded DNA genomes and replicate using reverse transcriptase. url:http://en.wikipedia.org/wiki/Viral_classification A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes. double stranded RNA virus infectious disease dsRNA virus infection disease_ontology DOID:0050501 obsolete dsRNA virus infectious disease true DOID:0050501 A RNA virus infectious disease that results_in infection, has_material_basis_in dsRNA viruses, which possess double-stranded RNA genomes. url:http://en.wikipedia.org/wiki/Viral_classification A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes. (+)ssRNA virus infection Positive Stranded ssRNA Virus infectious disease positive-sense single stranded RNA virus infectious disease positive-sense ssRNA virus infection positive-sense ssRNA virus infectious disease disease_ontology DOID:0050502 obsolete (+)ssRNA virus infectious disease true DOID:0050502 A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA positive-strand viruses, no DNA stage, which possess positive-sense single-stranded RNA genomes. url:http://en.wikipedia.org/wiki/Viral_classification A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes. (-)ssRNA virus infection Negative Stranded ssRNA Virus infectious disease negative-sense single stranded RNA virus infectious disease negative-sense ssRNA virus infection negative-sense ssRNA virus infectious disease disease_ontology DOID:0050503 obsolete (-)ssRNA virus infectious disease true DOID:0050503 A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA negative-strand viruses, which have negative-sense single-stranded RNA genomes. url:http://en.wikipedia.org/wiki/Viral_classification A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase. single stranded RNA reverse transcribing virus infectious disease ssRNA-RT virus infection disease_ontology DOID:0050504 obsolete ssRNA-RT virus infectious disease true DOID:0050504 A RNA virus infectious disease that results_in infection, has_material_basis_in ssRNA retro-transcribing viruses, which possess single-stranded RNA genomes and replicate using reverse transcriptase. url:http://en.wikipedia.org/wiki/Viral_classification A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus. disease_ontology DOID:0050505 obsolete human papilloma virus related anal squamous cell carcinoma true DOID:0050505 A human papillomavirus related squamous cell carcinoma that results_in infection located_in anus, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of anus. url:http://www.infectagentscancer.com/content/5/1/17 A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina. disease_ontology DOID:0050506 obsolete human papilloma virus related vaginal squamous cell carcinoma true DOID:0050506 A human papillomavirus related squamous cell carcinoma that results_in infection located_in vagina, has_material_basis_in human papillomavirus (type16), which cause malignant tumors in squamous epithelium of the vagina. url:http://emedicine.medscape.com/article/219110-overview url:http://emedicine.medscape.com/article/269188-overview disease_ontology DOID:0050507 obsolete AIDS-related cryptosporidiosis true DOID:0050507 A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. ICD9CM:050.0 SNOMEDCT_US_2023_03_01:266193008 UMLS_CUI:C1812609 disease_ontology DOID:0050508 variola major DOID:0050508 A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. url:http://www.who.int/csr/disease/smallpox/en/ disease_ontology DOID:0050509 obsolete AIDS-related toxoplasmosis true DOID:0050509 AIDS-related isosporiasis disease_ontology DOID:0050510 obsolete AIDS-related cystoisosporiasis true DOID:0050510 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea. disease_ontology DOID:0050511 obsolete Human torovirus gastroenteritis true DOID:0050511 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human torovirus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom bloody diarrhea. url:http://www.jstor.org/stable/30117350 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting. disease_ontology DOID:0050512 obsolete Saffold virus gastroenteritis true DOID:0050512 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting. url:http://jvi.asm.org/cgi/content/full/83/9/4631 url:http://www.cdc.gov/EID/content/15/9/1509.htm A paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, and has symptom paralysis of arms and legs. disease_ontology DOID:0050513 spinal polio DOID:0050513 A paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, and has symptom paralysis of arms and legs. url:http://en.wikipedia.org/wiki/Poliomyelitis A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty swallowing, and has symptom paralysis of arms and legs. disease_ontology DOID:0050514 bulbospinal polio DOID:0050514 A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty swallowing, and has symptom paralysis of arms and legs. url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms A poliomyelitis that results in destruction located in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis. disease_ontology DOID:0050515 paralytic poliomyelitis DOID:0050515 A poliomyelitis that results in destruction located in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis. url:http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms url:https://www.sciencedirect.com/topics/neuroscience/paralytic-polio A viral infectious disease that results_in infection located_in joint, has_material_basis_in Onyong-nyong virus (Alphavirus onyong), which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis. ICD10CM:A92.1 SNOMEDCT_US_2025_05_01:85579005 UMLS_CUI:C0276286 O'nyong nyong fever O'nyong'nyong fever disease_ontology DOID:0050516 o’nyong-nyong is a phrase that originated among the Acholi tribe of Uganda. It is not a proper noun and in the earliest report (1960, https://doi.org/10.1016/0035-9203(60)90025-0) was not capitalized. However, most authors have, even since those early days, capitalized the word(s). The label for this disease follows this converntion and is also capitalized. O'nyong-nyong fever ICD10CM:A92.1 UMLS_CUI:C0276286 DOID:0050516 A viral infectious disease that results_in infection located_in joint, has_material_basis_in Onyong-nyong virus (Alphavirus onyong), which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis. url:http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PA21&lpg#v=onepage&q&f=false url:https://doi.org/10.1016/0035-9203(60)90025-0 url:https://ph.health.mil/PHC%20Resource%20Library/Onyong-nyongVirus_FS_18-087-0517.pdf url:https://pmc.ncbi.nlm.nih.gov/articles/PMC3293492/ url:https://pmc.ncbi.nlm.nih.gov/articles/PMC5694854/ A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus (Alphavirus barmah), which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. disease_ontology DOID:0050517 Barmah Forest virus disease DOID:0050517 A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus (Alphavirus barmah), which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. url:https://en.wikipedia.org/wiki/Barmah_Forest_virus url:https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/barmah-forest-virus-disease A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus (Alphavirus rossriver), which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. Ross River virus disease disease_ontology DOID:0050518 Ross River fever DOID:0050518 A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus (Alphavirus rossriver), which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. url:http://en.wikipedia.org/wiki/Ross_River_fever url:https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/ross-river-virus-disease A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck. disease_ontology DOID:0050519 obsolete Lymphocytic choriomeningitis virus meningitis true DOID:0050519 A lymphocytic choriomeningitis that results_in inflammation located_in meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, and has_symptom stiff neck. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. disease_ontology DOID:0050520 obsolete Lymphocytic choriomeningitis virus meningoencephalitis true DOID:0050520 A lymphocytic choriomeningitis that results_in inflammation located_in meninges and located_in brain, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted_by common house mouse, Mus musculus. The infection has_symptom fever, has_symptom headache, has_symptom stiff neck, has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lcmv/qa.htm A viral infectious disease that results in infection, has_material_basis_in Oropouche virus (Orthobunyavirus oropoucheense), which is transmitted by biting midge, Culicoides paraensis. The infection has symptom fever, has symptom chills, has symptom headache, has symptom anorexia, has symptom muscle pain, has symptom joint pain, and has symptom vomiting. ICD10CM:A93.0 UMLS_CUI:C0276386 disease_ontology DOID:0050521 Oropouche fever ICD9CM:066.3 MESH:D002044 ICD10CM:A93.0 UMLS_CUI:C0276386 DOID:0050521 A viral infectious disease that results in infection, has_material_basis_in Oropouche virus (Orthobunyavirus oropoucheense), which is transmitted by biting midge, Culicoides paraensis. The infection has symptom fever, has symptom chills, has symptom headache, has symptom anorexia, has symptom muscle pain, has symptom joint pain, and has symptom vomiting. url:http://en.wikipedia.org/wiki/Oropouche_fever url:https://pmc.ncbi.nlm.nih.gov/articles/PMC5923469/ url:https://wwwnc.cdc.gov/eid/article/13/6/06-1114_article A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus (Orthohantavirus dobravaense), which is transmitted by yellow-necked field mouse, Apodemus flavicollis. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure. disease_ontology DOID:0050522 Balkan hemorrhagic fever DOID:0050522 A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus (Orthohantavirus dobravaense), which is transmitted by yellow-necked field mouse, Apodemus flavicollis. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure. url:https://en.wikipedia.org/wiki/Dobrava-Belgrade_orthohantavirus url:https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. GARD:13103 ICD10CM:C91.5 ICDO:9827/3 MESH:D015459 NCI:C3184 SNOMEDCT_US_2023_03_01:77430005 UMLS_CUI:C0023493 ATLL Adult T-cell leukemia/lymphoma (HTLV-1 positive) adult T-cell leukemia disease_ontology DOID:0050523 adult T-cell leukemia/lymphoma DOID:0050523 A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. url:http://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma url:https://www.ncbi.nlm.nih.gov/books/NBK558968/ ATLL A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects. GARD:3697 ICD10CM:E11.8 KEGG:04950 MESH:C562772 MIM:PS125850 NCI:C114769 ORDO:552 SNOMEDCT_US_2025_05_01:609561005 UMLS_CUI:C0342276 MODY Mason-type diabetes disease_ontology DOID:0050524 Xref MGI. OMIM mapping confirmed by DO. [SN]. maturity-onset diabetes of the young GARD:3697 MESH:C562772 MIM:PS125850 NCI:C114769 ORDO:552 UMLS_CUI:C0342276 DOID:0050524 ICD10CM:E11.8 A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects. url:http://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young MODY acro-osteolysis disease_ontology Acroosteolysis syndrome DOID:0050525 OMIM mapping confirmed by DO. [SN]. obsolete acroosteolysis true DOID:0050525 A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. GARD:12353 MIM:137200 autosomal recessive neuromyotonia and axonal neuropathy myokymia, myotonia and muscle wasting disease_ontology DOID:0050526 OMIM mapping confirmed by DO. [SN]. Gamstorp-Wohlfart syndrome DOID:0050526 A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. url:http://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia disease_ontology DOID:0050527 obsolete familial hypertriglyceridemia true DOID:0050527 A nonphotosensitive trichothiodystrophy that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. MIM:234050 AMISH BRITTLE HAIR BRAIN SYNDROME BIDS syndrome HAIR-BRAIN SYNDROME TTD4 disease_ontology DOID:0050528 nonphotosensitive trichothiodystrophy 4 DOID:0050528 A nonphotosensitive trichothiodystrophy that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. url:https://ghr.nlm.nih.gov/condition/trichothiodystrophy TTD4 A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. ICD10CM:G12.1 MESH:C563948 MIM:271150 ORDO:83420 UMLS_CUI:C1838230 SMA4 SPINAL MUSCULAR ATROPHY, ADULT FORM SPINAL MUSCULAR ATROPHY, TYPE IV spinal muscular atrophy 4 disease_ontology DOID:0050529 OMIM mapping confirmed by DO. [SN]. adult spinal muscular atrophy DOID:0050529 A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy SMA4 A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. MESH:D014897 MIM:253550 NCI:C156310 SNOMEDCT_US_2023_03_01:128212001 UMLS_CUI:C0393538 MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE SMA II SMA2 spinal muscular atrophy 2 spinal muscular atrophy type II disease_ontology DOID:0050530 OMIM mapping confirmed by DO. [SN]. intermediate spinal muscular atrophy DOID:0050530 A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. url:https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2 SMA II SMA2 LENTIGINOSIS, DIFFUSE LENTIGINOSIS, GENERALIZED LENTIGINOSIS, INHERITED PATTERNED disease_ontology DOID:0050531 OMIM mapping confirmed by DO. [SN]. obsolete lentiginosis profusa true DOID:0050531 NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC PIGMENTED MOLES disease_ontology DOID:0050532 OMIM mapping confirmed by DO. [SN]. obsolete epidermal nevus true DOID:0050532 disease_ontology DOID:0050533 OMIM mapping confirmed by DO. [SN]. obsolete soldiers heart true DOID:0050533 A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. ICD10CM:H53.63 ICD9CM:368.61 MESH:C537743 MIM:PS310500 ORDO:215 SNOMEDCT_US_2023_03_01:193687000 UMLS_CUI:C1306122 congenital essential nyctalopia disease_ontology DOID:0050534 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital stationary night blindness DOID:0050534 A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. url:http://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3 url:http://www.ncbi.nlm.nih.gov/books/NBK1245/ url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/ url:http://www.omim.org/entry/610444 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215 A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. GARD:1613 ICD10CM:H35.00 ICD9CM:362.10 MIM:PS133780 ORDO:891 SNOMEDCT_US_2023_03_01:193355009 UMLS_CUI:C0004608 FEVR familial exudative vitreoretinopathy disease_ontology DOID:0050535 Xref MGI. OMIM mapping confirmed by DO. [SN]. exudative vitreoretinopathy DOID:0050535 A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. url:http://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy url:http://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy FEVR A syndrome that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has_material_basis_in the mutation in the ESCO2 gene. Hypomelia Hypotrichosis Facial hemangioma syndrome SC PSEUDOTHALIDOMIDE SYNDROME disease_ontology DOID:0050536 GHR reference SC phocomelia syndrome is a mild variant of Roberts syndrome not a distinct disease - merged into Roberts syndrome [LS] obsolete SC phocomelia syndrome true DOID:0050536 A syndrome that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has_material_basis_in the mutation in the ESCO2 gene. url:https://www.omim.org/entry/269000 A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule. CATARACT, POSTERIOR POLAR disease_ontology DOID:0050537 OMIM mapping confirmed by DO. [SN]. posterior polar cataract DOID:0050537 A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729648/ A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. GARD:12433 hereditary motor and sensory neuropathy type 1 disease_ontology DOID:0050538 OMIM mapping confirmed by DO. [SN]. Charcot-Marie-Tooth disease type 1 DOID:0050538 A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. GARD:12431 ICD9CM:356.0 MIM:118230 MIM:604484 ORDO:64746 SNOMEDCT_US_2023_03_01:193158000 UMLS_CUI:C0392553 hereditary motor and sensory neuropathy Guadalajara neuronal type hereditary motor and sensory neuropathy Okinawa type hereditary motor and sensory neuropathy type 2 disease_ontology DOID:0050539 See MIM:604484 Okinawa type is CMT type 2. Charcot-Marie-Tooth disease type 2 DOID:0050539 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm url:https://www.ncbi.nlm.nih.gov/pubmed/25098539 A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination. MIM:145900 DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME disease_ontology DOID:0050540 OMIM mapping confirmed by DO. [SN]. Charcot-Marie-Tooth disease type 3 DOID:0050540 A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination. url:https://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. DOID:0050582 GARD:12440 ORDO:64749 hereditary motor and sensory neuropathy disease_ontology DOID:0050541 Xref MGI. OMIM mapping confirmed by DO. [SN]. Charcot-Marie-Tooth disease type 4 DOID:0050541 A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. ORDO:64747 disease_ontology DOID:0050542 Xref MGI. OMIM mapping confirmed by DO. [SN]. Charcot-Marie-Tooth disease type X DOID:0050542 A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. url:http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. Charcot-Marie-Tooth disease dominant intermediate Charcot-Marie-Tooth disease recessive intermediate disease_ontology DOID:0050543 Xref MGI. OMIM mapping confirmed by DO. [SN]. Charcot-Marie-Tooth disease intermediate type DOID:0050543 A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93114 url:https://www.ncbi.nlm.nih.gov/pubmed/16775371 An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. MESH:C564683 disease_ontology DOID:0050544 Xref MGI. OMIM mapping confirmed by DO. [SN]. hypermethioninemia DOID:0050544 An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. url:http://en.wikipedia.org/wiki/Hypermethioninemia A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. GARD:10875 MIM:PS306955 ORDO:450 heterotaxia situs ambiguus disease_ontology DOID:0050545 Xref MGI. OMIM mapping confirmed by DO. [SN]. visceral heterotaxy DOID:0050545 A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. url:http://en.wikipedia.org/wiki/Situs_ambiguus An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase. MIM:613743 ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE Adrenal insufficiency, congenital, with 46,XY sex reversal P450scc DEFICIENCY disease_ontology DOID:0050546 OMIM mapping confirmed by DO. [SN]. congenital adrenal insufficiency DOID:0050546 An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase. url:https://en.wikipedia.org/wiki/Adrenal_insufficiency A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22. MESH:C536911 MIM:155240 THYROID CARCINOMA, FAMILIAL MEDULLARY disease_ontology DOID:0050547 OMIM mapping confirmed by DO. [SN]. familial medullary thyroid carcinoma DOID:0050547 A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22. url:https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia url:https://www.omim.org/entry/155240 A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. MESH:D009477 MIM:PS162400 familial dysautonomia, type II hereditary sensory and autonomic neuropathy disease_ontology DOID:0050548 Xref MGI. OMIM mapping confirmed by DO. [SN]. hereditary sensory neuropathy DOID:0050548 A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. url:http://omim.org/entry/616488?search=616488&highlight=616488 A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase. DOID:0110087 disease_ontology DOID:0050549 obsolete Saldino-Noonan syndrome true DOID:0050549 A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase. url:https://en.wikipedia.org/wiki/Noonan_syndrome type II short rib-polydactyly syndrome disease_ontology DOID:0050550 OMIM mapping confirmed by DO. [SN]. obsolete Majewski syndrome true DOID:0050550 type III short rib-polydactyly syndrome disease_ontology DOID:0050551 OMIM mapping confirmed by DO. [SN]. obsolete Verma-Naumoff syndrome true DOID:0050551 A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 on chromosome 1q21. GARD:10988 GARD:3916 GARD:3917 MIM:256040 ORDO:324999 CANDLE JMP syndrome JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY NKJO Nakajo-Nishimura syndrome PRAAS1 chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome disease_ontology DOID:0050553 proteasome-associated autoinflammatory syndrome 1 DOID:0050553 A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 on chromosome 1q21. url:https://pubmed.ncbi.nlm.nih.gov/21129723/ url:https://pubmed.ncbi.nlm.nih.gov/21852578/ url:https://pubmed.ncbi.nlm.nih.gov/21881205/ url:https://www.nomidalliance.org/candle.php CANDLE NKJO PRAAS1 A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. DOID:0060064 MIM:301310 Anemia sideroblastic and spinocerebellar ataxia Anemia, sideroblastic, spinocerebellar ataxia X-linked sideroblastic anaemia and ataxia X-linked sideroblastic anaemia with ataxia X-linked sideroblastic anemia and ataxia disease_ontology DOID:0050554 OMIM mapping confirmed by DO. [SN]. X-linked sideroblastic anemia with ataxia DOID:0050554 A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. url:https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia An autosomal recessive cerebellar ataxia that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment, has_material_basis_in mutation in the TWNK gene that affects mitochondrial function. disease_ontology DOID:0050556 obsolete infantile onset spinocerebellar ataxia true DOID:0050556 An autosomal recessive cerebellar ataxia that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment, has_material_basis_in mutation in the TWNK gene that affects mitochondrial function. url:https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. GARD:9138 ICD9CM:359.0 MIM:254100 ORDO:97242 SNOMEDCT_US_2023_03_01:193221009 UMLS_CUI:C2937300 disease_ontology DOID:0050557 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital muscular dystrophy DOID:0050557 A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. url:http://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/ url:https://www.ninds.nih.gov/health-information/disorders/muscular-dystrophy A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes. GARD:4769 ORDO:75840 ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy disease_ontology DOID:0050558 Ullrich congenital muscular dystrophy DOID:0050558 A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes. url:https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein. GARD:6475 MIM:253800 ORDO:272 disease_ontology DOID:0050559 OMIM mapping confirmed by DO. [SN]. Fukuyama congenital muscular dystrophy DOID:0050559 A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein. url:https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. GARD:2599 MESH:D058494 HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome disease_ontology DOID:0050560 OMIM mapping confirmed by DO. [SN]. Walker-Warburg syndrome DOID:0050560 A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. url:https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood. GARD:9912 MESH:D065768 MIM:606369 ORDO:2382 Lennox syndrome disease_ontology DOID:0050561 Lennox-Gastaut syndrome DOID:0050561 A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood. url:https://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. GARD:7887 MESH:D013036 NCI:C84788 ORDO:3451 disease_ontology Infantile spasms syndrome DOID:0050562 West syndrome DOID:0050562 An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. url:https://rarediseases.org/rare-diseases/west-syndrome/ url:https://www.ncbi.nlm.nih.gov/pubmed/24268986 An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. MESH:C580334 nonsyndromic hearing loss nonsyndromic hereditary hearing loss disease_ontology DOID:0050563 nonsyndromic deafness DOID:0050563 An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. url:http://en.wikipedia.org/wiki/Nonsyndromic_hearing_loss_and_deafness url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness url:http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012742 A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. ICD10CM:H90.3 MIM:PS124900 ORDO:90635 autosomal dominant deafness disease_ontology DOID:0050564 OMIM mapping confirmed by DO. [SN]. autosomal dominant nonsyndromic deafness DOID:0050564 A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. ICD10CM:H90.3 MIM:607197 MIM:PS220290 ORDO:90636 disease_ontology DOID:0050565 MIM:607197 is an older phenotype record for this disease. autosomal recessive nonsyndromic deafness DOID:0050565 A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness A nonsyndromic deafness characterized by an X-linked inheritance mode. ICD10CM:H90.3 MIM:PS304500 ORDO:90625 X-linked deafness disease_ontology DOID:0050566 OMIM mapping confirmed by DO. [SN]. X-linked nonsyndromic deafness DOID:0050566 A nonsyndromic deafness characterized by an X-linked inheritance mode. url:http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development. MIM:PS119530 disease_ontology DOID:0050567 Xref MGI. OMIM mapping confirmed by DO. [SN]. orofacial cleft DOID:0050567 A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development. url:https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate url:https://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-4/chapter4-6.html A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. GARD:12174 MIM:PS277300 ORDO:1797 ORDO:2311 Jarcho-Levin syndrome costovertebral dysplasia spondylothoracic dysostosis spondylothoracic dysplasia disease_ontology DOID:0050568 Xref MGI. OMIM mapping confirmed by DO. [SN]. spondylocostal dysostosis DOID:0050568 A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. url:http://en.wikipedia.org/wiki/Spondylocostal_dysostosis url:http://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. GARD:8562 ICD10CM:Q87.1 MIM:PS210600 ORDO:808 Harper's syndrome Virchow-Seckel dwarfism bird-headed dwarfism microcephalic primordial dwarfism disease_ontology DOID:0050569 Xref MGI. OMIM mapping confirmed by DO. [SN]. Seckel syndrome DOID:0050569 A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. url:http://en.wikipedia.org/wiki/Seckel_syndrome A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. MIM:PS212065 disease_ontology DOID:0050570 OMIM mapping confirmed by DO. [SN]. congenital disorder of glycosylation type I DOID:0050570 A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification url:https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. MESH:C535747 MIM:PS212066 disease_ontology DOID:0050571 OMIM mapping confirmed by DO. [SN]. congenital disorder of glycosylation type II DOID:0050571 A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. GARD:10790 ICD10CM:H35.5 ORDO:1872 cone-rod retinal dystrophy disease_ontology DOID:0050572 Xref MGI. OMIM mapping confirmed by DO. [SN]. cone-rod dystrophy DOID:0050572 A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. url:http://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. GARD:10761 MESH:C535306 disease_ontology DOID:0050573 2-hydroxyglutaric aciduria DOID:0050573 An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. url:http://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). GARD:10472 MIM:236792 ORDO:79314 L-2-HYDROXYGLUTARIC ACIDEMIA disease_ontology DOID:0050574 L-2-hydroxyglutaric aciduria DOID:0050574 An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. GARD:5661 MIM:PS600721 disease_ontology DOID:0050575 D-2-hydroxyglutaric aciduria DOID:0050575 An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. GARD:322 ICD10CM:Q61.5 MESH:C537580 MIM:266900 MIM:606995 MIM:606996 MIM:609254 MIM:610189 MIM:613615 MIM:PS266900 ORDO:3156 Loken Senior syndrome renal-retinal syndrome disease_ontology DOID:0050576 Xref MGI. OMIM mapping confirmed by DO. [SN]. Senior-Loken syndrome DOID:0050576 A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. url:https://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies. MESH:C562966 MIM:PS218330 Levin syndrome Sensenbrenner syndrome disease_ontology DOID:0050577 OMIM mapping confirmed by DO. [SN]. cranioectodermal dysplasia DOID:0050577 A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies. url:https://en.wikipedia.org/wiki/Sensenbrenner_syndrome url:https://pubmed.ncbi.nlm.nih.gov/20817137/ A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. MIM:613587 disease_ontology DOID:0050578 OMIM mapping confirmed by DO. [SN]. occult macular dystrophy DOID:0050578 A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. url:http://www.iovs.org/content/41/2/513.full.pdf A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1. MIM:613507 ORDO:263297 Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV disease_ontology DOID:0050579 glycogen storage disease XV DOID:0050579 A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1. url:https://www.omim.org/entry/613507 A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. GARD:7220 ICD9CM:757.0 MIM:PS153100 ORDO:79452 SNOMEDCT_US_2023_03_01:205542007 UMLS_CUI:C1313885 disease_ontology DOID:0050580 Xref MGI. OMIM mapping confirmed by DO. [SN]. hereditary lymphedema DOID:0050580 A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. url:http://en.wikipedia.org/wiki/Milroy%27s_disease A dysostosis characterized by short fingers and toes. GARD:11913 MESH:D059327 ORDO:294937 disease_ontology DOID:0050581 Xref MGI. OMIM mapping confirmed by DO. [SN]. brachydactyly MESH:D059327 DOID:0050581 A dysostosis characterized by short fingers and toes. url:http://en.wikipedia.org/wiki/Brachydactyly disease_ontology DOID:0050583 obsolete Chlamydophila pneumoniae infectious disease true DOID:0050583 A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. disease_ontology DOID:0050584 gummatous syphilis DOID:0050584 A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. url:https://www.ncbi.nlm.nih.gov/pubmed/31437386 A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. GARD:13388 MIM:PS608594 disease_ontology DOID:0050585 OMIM mapping confirmed by DO. [SN]. congenital generalized lipodystrophy DOID:0050585 A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. url:https://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy An impulse control disorder that involves the uncontrollable plucking of ones hair. GARD:7803 MESH:D014256 MIM:613229 disease_ontology DOID:0050587 OMIM mapping confirmed by DO. [SN]. trichotillomania DOID:0050587 An impulse control disorder that involves the uncontrollable plucking of ones hair. url:https://en.wikipedia.org/wiki/Trichotillomania A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase. MIM:613155 CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1 disease_ontology DOID:0050588 Xref MGI. muscular dystrophy-dystroglycanopathy type B1 DOID:0050588 A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase. url:https://www.omim.org/entry/613155 An intestinal disease characterized by inflammation located in all parts of digestive tract. EFO:0003767 KEGG:05321 MESH:D015212 MIM:PS266600 NCI:C3138 SNOMEDCT_US_2023_03_01:155759008 UMLS_CUI:C0021390 disease_ontology DOID:0050589 Xref MGI. OMIM mapping confirmed by DO. [SN]. inflammatory bowel disease DOID:0050589 An intestinal disease characterized by inflammation located in all parts of digestive tract. url:http://en.wikipedia.org/wiki/Inflammatory_bowel_disease url:http://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908 A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. GARD:13592 ICD10CM:D70 MIM:PS202700 ORDO:42738 disease_ontology DOID:0050590 Xref MGI. OMIM mapping confirmed by DO. [SN]. severe congenital neutropenia DOID:0050590 A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. url:https://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia url:https://www.ncbi.nlm.nih.gov/pubmed/17133096 A tooth disease characterized by failure to develop one or more missing teeth. ICD10CM:K00.0 ICD9CM:520.0 MESH:D000848 MIM:106600 MIM:150400 MIM:313500 MIM:602639 MIM:604625 MIM:610926 MIM:PS106600 NCI:C172328 ORDO:2227 ORDO:99798 SNOMEDCT_US_2023_03_01:234951001 UMLS_CUI:C0399352 familial tooth agenesis hypodontia oligodontia selective tooth agenesis disease_ontology DOID:0050591 Xref MGI. tooth agenesis DOID:0050591 A tooth disease characterized by failure to develop one or more missing teeth. url:http://en.wikipedia.org/wiki/Hypodontia A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. ICD10CM:Q77.2 MIM:PS208500 ORDO:474 Jeune syndrome short-rib thoracic dysplasia with or without polydactyly thoracic pelvic phalangeal dystrophy disease_ontology DOID:0050592 OMIM mapping confirmed by DO. [SN]. asphyxiating thoracic dystrophy DOID:0050592 A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. url:https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities. MIM:613085 MIM:613086 disease_ontology DOID:0050593 Xref MGI. primary congenital glaucoma DOID:0050593 A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities. url:https://ghr.nlm.nih.gov/condition/early-onset-glaucoma A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity. Glycogen storage disease 9 disease_ontology DOID:0050594 glycogen storage disease IX DOID:0050594 A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity. url:https://pubmed.ncbi.nlm.nih.gov/25266922/ url:https://www.ncbi.nlm.nih.gov/pubmed/17689125 A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat. DOID:10076 ICD10CM:B68.1 ICD9CM:123.2 SNOMEDCT_US_2023_03_01:69163003 UMLS_CUI:C0152073 disease_ontology Beef tapeworm infection Infection by Taeniarhynchus saginatus Taenia saginata infectious disease DOID:0050596 taeniasis DOID:0050596 A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat. url:http://en.wikipedia.org/wiki/Taeniasis A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. DOID:13692 DOID:13721 DOID:3468 ICD10CM:B65.1 ICD10CM:B65.2 ICD9CM:120.1 ICD9CM:120.2 MESH:D012554 MESH:D012555 MIM:181460 NCI:C35001 NCI:C35002 NCI:C35364 ORDO:1247 SNOMEDCT_US_2023_03_01:187114003 SNOMEDCT_US_2023_03_01:52179003 SNOMEDCT_US_2023_03_01:750009 UMLS_CUI:C0036329 UMLS_CUI:C0036330 UMLS_CUI:C0276932 Katayama fever Schistosoma japonicum infection Schistosoma mansoni infectious disease schistosomiasis japonica disease_ontology DOID:0050597 Xref MGI. intestinal schistosomiasis DOID:0050597 A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. url:http://en.wikipedia.org/wiki/Schistosomiasis A tuberculosis that occurs at body sites other than the lung. disease_ontology DOID:0050598 extrapulmonary tuberculosis DOID:0050598 A tuberculosis that occurs at body sites other than the lung. url:https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. disease_ontology DOID:0050599 abdominal tuberculosis DOID:0050599 An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. url:https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). MESH:C535334 MIM:600501 ABCDS albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness disease_ontology DOID:0050600 OMIM mapping confirmed by DO. [SN]. ABCD syndrome DOID:0050600 A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). url:http://en.wikipedia.org/wiki/ABCD_syndrome url:http://omim.org/entry/600501 ABCDS A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. GARD:384 MIM:103285 acro-dermato-ungual-lacrimal-tooth syndrome disease_ontology DOID:0050601 OMIM mapping confirmed by DO. [SN]. ADULT syndrome DOID:0050601 A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. url:https://pubmed.ncbi.nlm.nih.gov/16114047/ A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system. GARD:457 MIM:231550 AAAS Achalasia-Addisonianism-Alacrimia syndrome Allgrove Syndrome disease_ontology DOID:0050602 OMIM mapping confirmed by DO. [SN]. triple-A syndrome DOID:0050602 A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system. url:https://ghr.nlm.nih.gov/condition/triple-a-syndrome AAAS An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. GARD:376 MIM:200500 Acheiropodia Horn-Kolb Syndrome disease_ontology DOID:0050603 OMIM mapping confirmed by DO. [SN]. acheiropody DOID:0050603 An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. url:https://en.wikipedia.org/wiki/Acheiropodia An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene. GARD:10605 MESH:C564334 MIM:607778 disease_ontology DOID:0050604 OMIM mapping confirmed by DO. [SN]. acrocapitofemoral dysplasia DOID:0050604 An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene. url:https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency. GARD:5723 MESH:C538178 MIM:201100 disease_ontology DOID:0050605 acrodermatitis enteropathica DOID:0050605 A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency. url:https://en.wikipedia.org/wiki/Acrodermatitis_enteropathica A keratosis that has_material_basis_in mutations in the ATP2A2 gene. MIM:101900 Acrokeratosis verruciformis of Hopf Hopf disease disease_ontology DOID:0050606 OMIM mapping confirmed by DO. [SN]. acrokeratosis verruciformis DOID:0050606 A keratosis that has_material_basis_in mutations in the ATP2A2 gene. url:https://en.wikipedia.org/wiki/Acrokeratosis_verruciformis An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated. Askin tumor Askin tumour Askin's tumour disease_ontology DOID:0050608 Askin's tumor DOID:0050608 An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated. url:https://en.wikipedia.org/wiki/Askin%27s_tumor An in situ carcinoma of the oral cavity that is located_in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma. disease_ontology DOID:0050610 oral cavity carcinoma in situ DOID:0050610 An in situ carcinoma of the oral cavity that is located_in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma. url:https://www.dermnetnz.org/topics/carcinoma-in-situ-of-oral-cavity/ An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma. disease_ontology DOID:0050611 pharynx carcinoma in situ DOID:0050611 An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/pharyngeal-cancer An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma. disease_ontology DOID:0050612 gallbladder carcinoma in situ DOID:0050612 An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma. url:https://en.wikipedia.org/wiki/Gallbladder_cancer url:https://www.cancer.org/cancer/gallbladder-cancer/detection-diagnosis-staging/staging.html An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma. disease_ontology DOID:0050613 bile duct carcinoma in situ DOID:0050613 An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma. url:https://en.wikipedia.org/wiki/Cholangiocarcinoma An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma. disease_ontology DOID:0050614 bronchus carcinoma in situ DOID:0050614 An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma. url:https://www.ncbi.nlm.nih.gov/pubmed/10858385 An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. disease_ontology DOID:0050615 respiratory system cancer DOID:0050615 An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. url:http://en.wikipedia.org/wiki/Respiratory_tract_neoplasm DOID:4755 disease_ontology DOID:0050616 obsolete malignant Leydig cell tumor true DOID:0050616 disease_ontology DOID:0050617 obsolete malignant Sertoli cell tumor true DOID:0050617 disease_ontology DOID:0050618 obsolete malignant Sertoli-Leydig cell tumor true DOID:0050618 A respiratory system cancer that is located_in the paranasal sinuses. DOID:1354 DOID:2442 DOID:2765 DOID:2767 DOID:4689 MESH:D010255 NCI:C6014 NCI:C6017 NCI:C6018 NCI:C6019 NCI:C8193 SNOMEDCT_US_2023_03_01:1255092002 UMLS_CUI:C0280334 UMLS_CUI:C0854995 UMLS_CUI:C1335336 UMLS_CUI:C1335337 UMLS_CUI:C1335340 Epidermoid carcinoma of the paranasal sinus Mucoepidermoid carcinoma of Accessory sinus adenoid cystic carcinoma of Accessory sinus paranasal sinus adenocarcinoma paranasal sinus adenoid cystic carcinoma paranasal sinus mucoepidermoid carcinoma paranasal sinus squamous cell carcinoma disease_ontology adenoid cystic carcinoma of paranasal sinus squamous cell carcinoma of paranasal sinus DOID:0050619 paranasal sinus cancer DOID:0050619 A respiratory system cancer that is located_in the paranasal sinuses. url:http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1 A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis. disease_ontology DOID:0050620 infiltrating renal pelvis transitional cell carcinoma DOID:0050620 A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis. url:https://en.wikipedia.org/wiki/Transitional_cell_carcinoma An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm. disease_ontology DOID:0050621 respiratory system benign neoplasm DOID:0050621 An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm. url:http://en.wikipedia.org/wiki/Respiratory_system An organ system benign neoplasm that is located_in reproductive system organs. disease_ontology DOID:0050622 reproductive organ benign neoplasm DOID:0050622 An organ system benign neoplasm that is located_in reproductive system organs. url:http://en.wikipedia.org/wiki/Reproductive_system A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas. disease_ontology DOID:0050623 bladder benign neoplasm DOID:0050623 A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1398414/ An organ system benign neoplasm located_in gastrointestinal tract organs. disease_ontology DOID:0050624 gastrointestinal system benign neoplasm DOID:0050624 An organ system benign neoplasm located_in gastrointestinal tract organs. url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract A hepatobiliary benign neoplasm located_in the biliary tract. DOID:4609 NCI:C4441 SNOMEDCT_US_2023_03_01:126855001 UMLS_CUI:C0345913 extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct disease_ontology DOID:0050625 biliary tract benign neoplasm DOID:0050625 A hepatobiliary benign neoplasm located_in the biliary tract. url:http://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. gastrointestinal neuroendocrine tumour malignant gastrointestinal neuroendocrine tumor malignant gastrointestinal neuroendocrine tumour disease_ontology DOID:0050626 gastrointestinal neuroendocrine tumor DOID:0050626 A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. url:http://en.wikipedia.org/wiki/Neuroendocrine_tumor url:http://www.cancer.gov/dictionary?CdrID=44904 A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. MIM:PS604348 ORDO:164736 familial advanced sleep-phase syndrome disease_ontology DOID:0050628 Xref MGI. advanced sleep phase syndrome DOID:0050628 A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. url:http://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. GARD:575 ICD10CM:G31.8 MIM:225750 MIM:610181 MIM:610329 MIM:610333 MIM:612952 MIM:615010 MIM:615846 MIM:PS225750 ORDO:51 AGS Cree encephalitis disease_ontology DOID:0050629 Xref MGI. OMIM mapping confirmed by DO. [SN]. Aicardi-Goutieres syndrome DOID:0050629 A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. url:http://omim.org/entry/225750 url:http://www.ncbi.nlm.nih.gov/books/NBK1475/ url:https://agsaa.org/about-ags AGS An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene. GARD:10574 MESH:C562664 MIM:300600 FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Forsius-Eriksson syndrome disease_ontology DOID:0050630 Aland Island eye disease DOID:0050630 An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene. url:https://www.omim.org/entry/300600 A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13. GARD:5617 MESH:C537047 MIM:300523 ORDO:59 AHDS ALLAN-HERNDON SYNDROME disease_ontology DOID:0050631 OMIM mapping confirmed by DO. [SN]. Allan-Herndon-Dudley syndrome DOID:0050631 A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13. url:http://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome url:http://omim.org/entry/300523 AHDS A syndrome characterized by abnormal pigmentation of the skin, hair and eyes. GARD:10958 ICD10CM:E70.3 MESH:D016115 MIM:PS203100 ORDO:55 disease_ontology DOID:0050632 Xref MGI. OMIM mapping confirmed by DO. [SN]. oculocutaneous albinism DOID:0050632 A syndrome characterized by abnormal pigmentation of the skin, hair and eyes. url:http://en.wikipedia.org/wiki/Oculocutaneous_albinism url:http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. MESH:D016117 MIM:300500 Albinism ocular 1 ocular albinism disease_ontology DOID:0050633 ocular albinism 1 DOID:0050633 An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. url:https://ghr.nlm.nih.gov/condition/ocular-albinism An alopecia characterized by the complete loss of hair on the scalp and body. GARD:614 MESH:C537055 MIM:203655 ALOPECIA UNIVERSALIS CONGENITA disease_ontology DOID:0050634 alopecia universalis DOID:0050634 An alopecia characterized by the complete loss of hair on the scalp and body. url:https://rarediseases.info.nih.gov/diseases/614/alopecia-universalis A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. GARD:11 ICD10CM:G98 MESH:C536589 MIM:104290 MIM:614820 MIM:PS104290 ORDO:2131 AHC disease_ontology DOID:0050635 Xref MGI. OMIM mapping confirmed by DO. [SN]. alternating hemiplegia of childhood DOID:0050635 A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. url:http://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood url:http://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood AHC An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys. GARD:8282 MIM:105200 ORDO:85450 AMYLOIDOSIS, FAMILIAL RENAL German type amyloidosis OSTERTAG TYPE AMYLOIDOSIS systemic nonneuropathic amyloidosis disease_ontology DOID:0050636 OMIM mapping confirmed by DO. [SN]. familial visceral amyloidosis DOID:0050636 An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys. url:https://en.wikipedia.org/wiki/Familial_renal_amyloidosis An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. GARD:2339 MIM:105120 ORDO:85448 AGel amyloidosis AMYLOIDOSIS, MERETOJA TYPE Lattice corneal dystrophy type II gelsolin amyloidosis disease_ontology DOID:0050637 OMIM mapping confirmed by DO. [SN]. Finnish type amyloidosis DOID:0050637 An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. url:https://rarediseases.info.nih.gov/diseases/2339/familial-amyloidosis-finnish-type An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. DOID:0050761 GARD:656 ICD10CM:E85.82 MIM:105210 ORDO:85447 ATTR amyloidosis ATTRm amyloidosis Amyloidosis, hereditary, transthyretin-related Corino de Andrade's disease Familial transthyretin amyloidosis TTR amyloidosis familial amyloid polyneuropathy paramyloidosis transthyretin-related hereditary amyloidosis disease_ontology DOID:0050638 OMIM mapping confirmed by DO. [SN]. transthyretin amyloidosis DOID:0050638 An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. url:http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis url:http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis url:http://www.ncbi.nlm.nih.gov/books/NBK1194/ url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451 url:http://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25 url:https://www.ncbi.nlm.nih.gov/books/NBK1194/ url:https://www.ncbi.nlm.nih.gov/pubmed/19372706 An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. GARD:132 MIM:PS105250 ORDO:137807 ORDO:353220 PCA familial primary localized cutaneous amyloidosis disease_ontology DOID:0050639 Xref MGI. OMIM mapping confirmed by DO. [SN]. primary cutaneous amyloidosis DOID:0050639 An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. url:https://www.ncbi.nlm.nih.gov/pubmed/19663869 PCA An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. MIM:607095 spondylometaepiphyseal dysplasia, Menger type disease_ontology DOID:0050640 anauxetic dysplasia 1 DOID:0050640 An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. url:https://pubmed.ncbi.nlm.nih.gov/16252239/ url:https://www.ncbi.nlm.nih.gov/books/NBK84550/ A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12. GARD:12916 MESH:C562717 MIM:268150 disease_ontology DOID:0050641 OMIM mapping confirmed by DO. [SN]. Rh deficiency syndrome DOID:0050641 A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12. url:https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/3103426 A microcytic anemia characterized by paler than normal blood cells. MIM:206100 MIM:615234 disease_ontology DOID:0050642 Xref MGI. OMIM mapping confirmed by DO. [SN]. hypochromic microcytic anemia DOID:0050642 A microcytic anemia characterized by paler than normal blood cells. url:http://en.wikipedia.org/wiki/Hypochromic_anemia disease_ontology DOID:0050643 obsolete anonychia congenita true DOID:0050643 A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. GARD:8380 MESH:C537440 MIM:208000 MIM:614473 ORDO:51608 generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis disease_ontology DOID:0050644 Xref MGI. OMIM mapping confirmed by DO. [SN]. arterial calcification of infancy DOID:0050644 A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. url:http://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification url:http://www.omim.org/entry/208000 A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. GARD:774 MESH:C565942 MIM:208050 disease_ontology DOID:0050645 OMIM mapping confirmed by DO. [SN]. arterial tortuosity syndrome DOID:0050645 A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. url:http://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome url:http://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome A muscle tissue disease characterized by congenital joint contractures of hand and feet. GARD:786 MIM:PS108120 ORDO:1147 ORDO:97120 Arthrogryposis Multiplex Congenita disease_ontology DOID:0050646 Xref MGI. OMIM mapping confirmed by DO. [SN]. distal arthrogryposis DOID:0050646 A muscle tissue disease characterized by congenital joint contractures of hand and feet. url:http://en.wikipedia.org/wiki/Arthrogryposis An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. GARD:8756 MESH:C535388 MIM:301835 ORDO:1187 SNOMEDCT_US_2023_03_01:702441001 UMLS_CUI:C0796028 ARTS Lethal ataxia with deafness and optic atrophy MRXS18 MRXSARTS fatal X-linked ataxia with deafness and loss of vision syndromic X-linked mental retardation 18 syndromic X-linked mental retardation Arts type disease_ontology DOID:0050647 OMIM mapping confirmed by DO. [SN]. Arts syndrome DOID:0050647 An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. url:http://ghr.nlm.nih.gov/condition/arts-syndrome url:http://www.ncbi.nlm.nih.gov/books/NBK2591/ url:http://www.omim.org/entry/301835 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN url:https://www.ncbi.nlm.nih.gov/pubmed/20301738 ARTS MRXS18 MRXSARTS An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. MIM:108720 MIM:108721 MIM:256050 disease_ontology DOID:0050648 OMIM mapping confirmed by DO. [SN]. atelosteogenesis DOID:0050648 An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. url:https://link.springer.com/chapter/10.1007/978-1-60327-161-5_17 url:https://rarediseases.info.nih.gov/diseases/9287/atelosteogenesis-type-1 A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. GARD:9595 MIM:209300 NCI:C125693 ORDO:1195 familial hypotransferrinemia disease_ontology DOID:0050649 OMIM mapping confirmed by DO. [SN]. atransferrinemia DOID:0050649 A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. url:https://en.wikipedia.org/wiki/Atransferrinemia url:https://www.ncbi.nlm.nih.gov/pubmed/29969719 url:https://www.omim.org/entry/209300 An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. GARD:9740 MIM:607554 MIM:608583 MIM:608988 MIM:611493 MIM:611494 MIM:612201 MIM:612240 MIM:613055 MIM:613980 MIM:614022 MIM:614049 MIM:614050 MIM:615377 MIM:615378 MIM:615770 MIM:PS608583 ORDO:334 ATFB disease_ontology DOID:0050650 Xref MGI. familial atrial fibrillation DOID:0050650 An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. url:http://en.wikipedia.org/wiki/Familial_atrial_fibrillation ATFB A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. GARD:802 ICD10CM:Q21.2 ICD9CM:745.6 MESH:D004694 MIM:606215 MIM:614430 MIM:614474 ORDO:98722 SNOMEDCT_US_2023_03_01:204322008 UMLS_CUI:C0014116 AVCD AVSD ECD atrioventricular canal defect endocardial cushion defect disease_ontology DOID:0050651 Xref MGI. OMIM mapping confirmed by DO. [SN]. atrioventricular septal defect DOID:0050651 A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. url:http://en.wikipedia.org/wiki/Atrioventricular_septal_defect url:http://www.cdc.gov/ncbddd/heartdefects/avsd.html AVCD AVSD ECD disease_ontology DOID:0050652 obsolete soft tissue cancer true DOID:0050652 nevus of Clark disease_ontology DOID:0050653 obsolete dysplastic nevus true DOID:0050653 A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. GARD:1602 MESH:C536788 MIM:218600 ORDO:1223 SNOMEDCT_US_2023_03_01:77608001 UMLS_CUI:C0265308 disease_ontology DOID:0050654 OMIM mapping confirmed by DO. [SN]. Baller-Gerold syndrome DOID:0050654 A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. url:http://en.wikipedia.org/wiki/Baller%E2%80%93Gerold_syndrome url:http://ghr.nlm.nih.gov/condition/baller-gerold-syndrome url:http://www.ncbi.nlm.nih.gov/books/NBK1204/ A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22. MIM:241850 HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE disease_ontology DOID:0050655 OMIM mapping confirmed by DO. [SN]. Bamforth-Lazarus syndrome DOID:0050655 A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22. url:https://rarediseases.info.nih.gov/diseases/414/bamforth-syndrome A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2. GARD:12426 MIM:251290 ORDO:1229 BLC-PMG BLCPMG Baraitser-Brett-Piesowicz syndrome Baraitser-Reardon syndrome PTORCH1 band-like calcification with simplified gyration and polymicrogyria bilateral band-like calcification with polymicrogyria microcephaly-intracranial calcification-intellectual disability syndrome disease_ontology DOID:0050656 pseudo-TORCH syndrome 1 DOID:0050656 A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/20727516 BLC-PMG BLCPMG PTORCH1 A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. GARD:5887 ICD10CM:Q87.89 MESH:D006223 MIM:158350 NCI:C3939 ORDO:109 Bannayan-Zonana syndrome Cowden syndrome 1 Riley-Smith syndrome Ruvalcaba-Myhre-Smith syndrome disease_ontology DOID:0050657 OMIM mapping confirmed by DO. [SN]. Bannayan-Riley-Ruvalcaba syndrome DOID:0050657 A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. url:https://en.wikipedia.org/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome url:https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1488/ url:https://www.ncbi.nlm.nih.gov/pubmed/31062505 A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. MIM:149200 KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS disease_ontology DOID:0050658 OMIM mapping confirmed by DO. [SN]. Bart-Pumphrey syndrome DOID:0050658 A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. url:https://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia. MESH:C537658 MIM:607483 disease_ontology DOID:0050659 OMIM mapping confirmed by DO. [SN]. biotin-responsive basal ganglia disease DOID:0050659 A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia. url:https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease url:https://www.ncbi.nlm.nih.gov/books/NBK169615/ A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. GARD:332 MIM:123790 disease_ontology DOID:0050660 OMIM mapping confirmed by DO. [SN]. Beare-Stevenson cutis gyrata syndrome DOID:0050660 A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. url:https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss. GARD:10120 GARD:182 ICD10CM:H35.5 MESH:D057826 MIM:153700 MIM:153840 MIM:608161 MIM:616151 MIM:616152 ORDO:1243 ORDO:99000 Best disease Best macular dystrophy juvenile-onset vitelliform macular dystrophy disease_ontology DOID:0050661 Xref MGI. OMIM mapping confirmed by DO. [SN]. vitelliform macular dystrophy DOID:0050661 A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss. url:http://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy url:http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12. MESH:C567518 MIM:611809 autosomal recessive bestrophinopathy disease_ontology DOID:0050662 OMIM mapping confirmed by DO. [SN]. bestrophinopathy DOID:0050662 A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12. url:https://www.ncbi.nlm.nih.gov/pubmed/24859690 url:https://www.ncbi.nlm.nih.gov/pubmed/25545482 url:https://www.omim.org/entry/611809 A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene. GARD:873 MESH:C535436 MIM:158810 benign congenital muscular dystrophy disease_ontology DOID:0050663 OMIM mapping confirmed by DO. [SN]. Bethlem myopathy DOID:0050663 A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene. url:https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35. GARD:10050 MIM:210370 Bietti's crystalline dystrophy disease_ontology DOID:0050664 OMIM mapping confirmed by DO. [SN]. Bietti crystalline corneoretinal dystrophy DOID:0050664 A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35. url:https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction. ICD10CM:Q86.0 disease_ontology DOID:0050665 fetal alcohol syndrome DOID:0050665 A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction. url:http://en.wikipedia.org/wiki/Fetal_alcohol_syndrome url:http://www.cdc.gov/ncbddd/fasd/facts.html A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. disease_ontology DOID:0050666 partial fetal alcohol syndrome DOID:0050666 A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. url:http://depts.washington.edu/fasdpn/htmls/fasd-fas.htm url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. ARND static encephalopathy disease_ontology DOID:0050667 alcohol-related neurodevelopmental disorder DOID:0050667 A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder ARND A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. ARBD disease_ontology DOID:0050668 alcohol-related birth defects DOID:0050668 A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. url:http://www.cdc.gov/ncbddd/fasd/facts.html ARBD A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements. disease_ontology DOID:0050669 spastic cerebral palsy DOID:0050669 A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements. url:http://www.cerebralpalsysource.com/Types_of_CP/spastic_cp/index.html A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. GARD:10451 MIM:605388 hypotonic cerebral palsy disease_ontology DOID:0050670 ataxic cerebral palsy DOID:0050670 A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic url:http://www.brainandspinalcord.org/cerebral-palsy/types/ataxic-cerebral-palsy.html A breast cancer that develops from breast tissue in females. snadendla 2011-06-15T02:48:20Z disease_ontology DOID:0050671 female breast cancer DOID:0050671 A breast cancer that develops from breast tissue in females. url:https://en.wikipedia.org/wiki/Breast_cancer url:https://www.ncbi.nlm.nih.gov/pubmed/24703317 url:https://www.ncbi.nlm.nih.gov/pubmed/25002350 A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. Athetoid Dyskinetic Cerebral Palsy disease_ontology DOID:0050672 dyskinetic cerebral palsy DOID:0050672 A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing. disease_ontology DOID:0050673 mixed cerebral palsy DOID:0050673 A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing. url:http://www.brainandspinalcord.org/cerebral-palsy/types/mixed-cerebral-palsy url:http://www.cerebralpalsysource.com/Types_of_CP/mixed_cp/index.html A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. ICD10CM:K76.8 ORDO:485631 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency CBA cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency disease_ontology DOID:0050674 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital bile acid synthesis defect DOID:0050674 A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. url:https://rarediseases.org/rare-diseases/bile-acid-synthesis-disorders/ url:https://www.ncbi.nlm.nih.gov/pubmed/12543708 CBA A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24. GARD:10358 MESH:C567357 MIM:612292 Birk-Barel mental retardation dysmorphism syndrome disease_ontology DOID:0050675 OMIM mapping confirmed by DO. [SN]. Birk-Barel syndrome DOID:0050675 A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24. url:https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11. GARD:2322 MESH:D058249 MIM:135150 disease_ontology DOID:0050676 OMIM mapping confirmed by DO. [SN]. Birt-Hogg-Dube syndrome DOID:0050676 A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11. url:https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/ A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. GARD:22 MESH:C537633 MIM:262000 ORDO:123 SNOMEDCT_US_2023_03_01:67817003 UMLS_CUI:C0266006 BJS PTD deafness-pili torti-hypogonadism syndrome disease_ontology DOID:0050677 OMIM mapping confirmed by DO. [SN]. Bjornstad syndrome DOID:0050677 A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. url:https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/ BJS PTD A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. GARD:304 MESH:C538157 MIM:186580 NCI:C116794 ARTHROCUTANEOUVEAL GRANULOMATOSIS BLAUS Jabs syndrome disease_ontology DOID:0050678 OMIM mapping confirmed by DO. [SN]. Blau syndrome DOID:0050678 A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. url:http://en.wikipedia.org/wiki/Blau_syndrome url:http://www.omim.org/entry/186580?search=186580&highlight=186580 BLAUS An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in alteration in the red (OPN1LW) and green (OPN1MW) visual pigment gene cluster on chromosome Xq28 or in the locus control region for the red and green pigment genes, located adjacent to and 5-prime of the pigment gene cluster. GARD:917 MIM:303700 disease_ontology DOID:0050679 OMIM mapping confirmed by DO. [SN]. blue cone monochromacy DOID:0050679 An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in alteration in the red (OPN1LW) and green (OPN1MW) visual pigment gene cluster on chromosome Xq28 or in the locus control region for the red and green pigment genes, located adjacent to and 5-prime of the pigment gene cluster. url:http://omim.org/entry/303700 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16 An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14. GARD:933 MESH:C536573 MIM:112310 disease_ontology DOID:0050680 OMIM mapping confirmed by DO. [SN]. Boomerang dysplasia DOID:0050680 An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14. url:https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. GARD:936 MESH:C536575 MIM:301900 NCI:C157122 ORDO:127 SNOMEDCT_US_2023_03_01:21634003 UMLS_CUI:C0265339 BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type disease_ontology DOID:0050681 OMIM mapping confirmed by DO. [SN]. Borjeson-Forssman-Lehmann syndrome DOID:0050681 An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. url:http://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html BFLS BORJ MRXSBFL A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. MIM:601536 ORDO:69739 NAVAJO BRAINSTEM SYNDROME disease_ontology DOID:0050682 OMIM mapping confirmed by DO. [SN]. Athabaskan brainstem dysgenesis syndrome DOID:0050682 A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/18412118 url:https://www.omim.org/entry/601536 A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene. MESH:C564392 MIM:607475 Vasterbotten dystrophy disease_ontology DOID:0050683 OMIM mapping confirmed by DO. [SN]. Bothnia retinal dystrophy DOID:0050683 A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/11176989 url:https://www.omim.org/entry/607475 A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13. GARD:5950 MESH:C537081 MIM:211180 ORDO:1270 SNOMEDCT_US_2023_03_01:711153001 UMLS_CUI:C1859405 BWCNS Bowen Hutterite syndrome Bowen-Conradi Hutterite syndrome disease_ontology DOID:0050684 OMIM mapping confirmed by DO. [SN]. Bowen-Conradi syndrome DOID:0050684 A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/19463982 url:https://www.omim.org/entry/211180 BWCNS A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. snadendla 2011-06-13T01:25:14Z DOID:7137 ICDO:8041/3 NCI:C4099 SNOMEDCT_US_2023_03_01:5958006 UMLS_CUI:C0334239 Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma disease_ontology DOID:0050685 small cell carcinoma DOID:0050685 A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. url:http://en.wikipedia.org/wiki/Small_cell_carcinoma A cancer that is classified based on the organ it starts in. snadendla 2011-06-13T03:28:33Z MESH:D009371 disease_ontology DOID:0050686 organ system cancer DOID:0050686 A cancer that is classified based on the organ it starts in. url:https://www.cancer.gov/types/by-body-location A cancer that is classified by the type of cell from which it is derived. snadendla 2011-06-13T03:28:50Z disease_ontology DOID:0050687 cell type cancer DOID:0050687 A cancer that is classified by the type of cell from which it is derived. url:http://en.wikipedia.org/wiki/Cancer A large intestine cancer that is located_in the terminal part of the large intestine. snadendla 2011-06-14T01:34:36Z disease_ontology DOID:0050688 anal canal cancer DOID:0050688 A large intestine cancer that is located_in the terminal part of the large intestine. url:http://en.wikipedia.org/wiki/Anal_canal A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. snadendla 2011-06-17T03:55:47Z MESH:C565193 MIM:610713 disease_ontology DOID:0050689 OMIM mapping confirmed by DO. [SN]. brachydactyly-syndactyly syndrome DOID:0050689 A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/17236141 url:https://www.omim.org/entry/610713 An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. snadendla 2011-06-17T04:00:27Z GARD:10903 MESH:C537098 MIM:113500 MIM:271530 MIM:271630 MIM:613678 ORDO:1293 brachyrachia disease_ontology DOID:0050690 Xref MGI. OMIM mapping confirmed by DO. [SN]. brachyolmia DOID:0050690 An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. url:https://www.ncbi.nlm.nih.gov/pubmed/10968486 A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts. snadendla 2011-06-17T04:10:18Z GARD:3212 MIM:113620 disease_ontology DOID:0050691 OMIM mapping confirmed by DO. [SN]. branchiooculofacial syndrome DOID:0050691 A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts. url:http://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome url:http://www.ncbi.nlm.nih.gov/books/NBK55063/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles. snadendla 2011-06-17T04:30:49Z GARD:9158 MESH:C536607 MIM:601003 disease_ontology DOID:0050692 OMIM mapping confirmed by DO. [SN]. Brody myopathy DOID:0050692 A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles. url:https://ghr.nlm.nih.gov/condition/brody-myopathy A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. snadendla 2011-06-17T04:34:10Z GARD:10179 MIM:605041 ORDO:79493 SNOMEDCT_US_2023_03_01:703531009 UMLS_CUI:C1857941 BRSS BSS CYLD cutaneous syndrome SBS Spiegler-Brooke Syndrome disease_ontology DOID:0050693 OMIM mapping confirmed by DO. [SN]. Brooke-Spiegler syndrome DOID:0050693 A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. url:https://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome BRSS BSS SBS A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves. snadendla 2011-06-17T04:38:07Z MESH:C537111 MIM:PS211530 disease_ontology DOID:0050694 OMIM mapping confirmed by DO. [SN]. Brown-Vialetto-Van Laere syndrome MESH:C537111 DOID:0050694 A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves. url:https://www.ncbi.nlm.nih.gov/pubmed/21110228 A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura. snadendla 2011-06-27T09:57:44Z disease_ontology DOID:0050695 malignant pleural solitary fibrous tumor DOID:0050695 A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura. url:https://www.ncbi.nlm.nih.gov/pubmed/17075563 A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy. lschriml 2011-12-01T01:01:25Z disease_ontology DOID:0050696 fetal alcohol spectrum disorder DOID:0050696 A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy. url:http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder url:http://www.cdc.gov/ncbddd/fasd/facts.html A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. lschriml 2012-01-03T01:13:08Z MESH:D002821 disease_ontology DOID:0050697 chorioamnionitis DOID:0050697 A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. url:http://en.wikipedia.org/wiki/Chorioamnionitis url:http://www.merriam-webster.com/medlineplus/Chorioamnionitis A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. lschriml 2012-01-03T01:18:35Z disease_ontology DOID:0050698 funisitis DOID:0050698 A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. url:http://en.wikipedia.org/wiki/Funisitis A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure. lschriml 2015-03-12T14:32:47Z GARD:13105 MESH:D057973 MIM:300009 MIM:300555 NCI:C123260 ORDO:1652 SNOMEDCT_US_2023_03_01:444645005 UMLS_CUI:C0878681 Dent's disease X-linked hypercalciuric nephrocalcinosis disease_ontology DOID:0050699 Dent disease DOID:0050699 A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure. url:http://en.wikipedia.org/wiki/Dent%27s_disease url:http://ghr.nlm.nih.gov/condition/dent-disease url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652 url:https://www.dentdisease.org/ A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. lschriml 2012-01-03T02:54:11Z ICD10CM:I42 ICD9CM:425 ICD9CM:425.9 MESH:D009202 NCI:C34830 NCI:C53654 SNOMEDCT_US_2023_03_01:266301006 SNOMEDCT_US_2023_03_01:89461002 SNOMEDCT_US_2023_03_01:89600009 UMLS_CUI:C0033141 UMLS_CUI:C0036529 UMLS_CUI:C0878544 Cardiomyopathies disease_ontology DOID:0050700 MESH:D009202 added from NeuroDevNet [WAK]. cardiomyopathy DOID:0050700 A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. url:http://en.wikipedia.org/wiki/Cardiomyopathy url:http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. lschriml 2012-04-11T11:42:46Z electro-clinical syndrome disease_ontology DOID:0050701 electroclinical syndrome DOID:0050701 An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. url:http://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/ url:https://www.ncbi.nlm.nih.gov/pubmed/20196795 An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. lschriml 2012-04-11T11:48:18Z disease_ontology DOID:0050702 JA:Epilepsy Genetics Kiel neonatal period electroclinical syndrome DOID:0050702 An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. url:https://www.ncbi.nlm.nih.gov/pubmed/20196795 url:https://www.ncbi.nlm.nih.gov/pubmed/22182677 An electroclinical syndrome with onset in infancy occurring between birth and one year of age. lschriml 2012-04-11T11:48:18Z disease_ontology DOID:0050703 JA:Epilepsy Genetics Kiel infancy electroclinical syndrome DOID:0050703 An electroclinical syndrome with onset in infancy occurring between birth and one year of age. url:https://www.ncbi.nlm.nih.gov/pubmed/20196795 An electroclinical syndrome with onset in childhood between one and 12 years of age. lschriml 2012-04-11T11:48:18Z disease_ontology DOID:0050704 JA:Epilepsy Genetics Kiel childhood electroclinical syndrome DOID:0050704 An electroclinical syndrome with onset in childhood between one and 12 years of age. url:https://www.ncbi.nlm.nih.gov/pubmed/20196795 An electroclinical syndrome with onset in adolescence and adulthood. lschriml 2012-04-11T11:48:18Z disease_ontology DOID:0050705 adolescence-adult electroclinical syndrome DOID:0050705 An electroclinical syndrome with onset in adolescence and adulthood. url:https://www.ncbi.nlm.nih.gov/pubmed/20196795 JA:Epilepsy_Genetics_Kiel An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration. lschriml 2012-04-11T11:48:18Z disease_ontology DOID:0050706 variable age at onset electroclinical syndrome DOID:0050706 An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/ lschriml 2012-04-11T01:42:13Z disease_ontology DOID:0050707 obsolete nonsyndromic epilepsy true DOID:0050707 A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. lschriml 2012-04-11T02:29:04Z disease_ontology DOID:0050708 JA:Epilepsy Genetics Kiel early onset absence epilepsy DOID:0050708 A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. url:https://www.ncbi.nlm.nih.gov/pubmed/24099057 A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. lschriml 2012-05-10T10:02:58Z DOID:2481 GARD:9255 ORDO:1934 Early Infantile Epileptic Encephalopathy with Burst-Suppression disease_ontology DOID:0050709 early infantile epileptic encephalopathy DOID:0050709 A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. url:http://en.wikipedia.org/wiki/Ohtahara_syndrome url:http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. lschriml 2012-05-22T10:32:44Z GARD:10954 MIM:PS210200 ORDO:6 3-Methylcrotonylglycinuria 3MCC deficiency BMCC deficiency disease_ontology DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. url:http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency url:http://omim.org/entry/210200 An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. lschriml 2012-05-22T11:47:25Z GARD:9499 MIM:604290 disease_ontology DOID:0050711 aceruloplasminemia DOID:0050711 An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. url:http://en.wikipedia.org/wiki/Aceruloplasminemia url:http://omim.org/entry/604290?search=604290&highlight=604290 An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. lschriml 2012-05-22T11:53:57Z MIM:612718 Cerebral creatine deficiency syndrome 3 arginine glycine amidinotransferase deficiency disease_ontology DOID:0050712 AGAT deficiency DOID:0050712 An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. url:http://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase#Deficiency A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. lschriml 2012-05-22T01:03:41Z ORDO:1561 UMLS_CUI:C4273730 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency fatal infantile COX deficiency fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency fatal infantile cytochrome C oxidase deficiency fatal infantile encephalocardiomyopathy disease_ontology DOID:0050713 Xref MGI. COX deficiency, infantile mitochondrial myopathy ORDO:1561 UMLS_CUI:C4273730 DOID:0050713 A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. url:https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. lschriml 2012-05-23T03:26:25Z MIM:277400 Cobalamin C deficiency MAHCC disease_ontology DOID:0050715 methylmalonic aciduria and homocystinuria type cblC DOID:0050715 A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. url:http://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22 MAHCC A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. lschriml 2012-05-23T03:26:25Z MIM:277410 Cobalamin D deficiency MAHCD disease_ontology DOID:0050716 methylmalonic aciduria and homocystinuria type cblD DOID:0050716 A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. url:http://omim.org/entry/277410?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22 url:https://www.ncbi.nlm.nih.gov/pubmed/18385497 MAHCD A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13. lschriml 2012-05-23T03:26:25Z MIM:277380 Cobalamin F deficiency MAHCF disease_ontology DOID:0050717 methylmalonic aciduria and homocystinuria type cblF DOID:0050717 A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13. url:https://www.ncbi.nlm.nih.gov/pubmed/21910240 MAHCF An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. lschriml 2012-06-11T02:44:53Z disease_ontology DOID:0050718 vitamin metabolic disorder DOID:0050718 An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. url:http://en.wikipedia.org/wiki/Inborn_error_of_metabolism A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. lschriml 2012-06-11T02:58:59Z MIM:613068 Neurodegeneration due to cerebral folate transport deficiency disease_ontology DOID:0050719 cerebral folate receptor alpha deficiency DOID:0050719 A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. url:http://en.wikipedia.org/wiki/B_vitamins url:https://www.ncbi.nlm.nih.gov/pubmed/19732866 An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. lschriml 2012-06-13T03:09:31Z GARD:2830 MIM:238970 HHH syndrome Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome disease_ontology DOID:0050720 ornithine translocase deficiency DOID:0050720 An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. url:http://en.wikipedia.org/wiki/Ornithine_translocase_deficiency An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. lschriml 2012-06-13T03:09:31Z disease_ontology DOID:0050721 serine deficiency DOID:0050721 An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. url:https://www.ncbi.nlm.nih.gov/pubmed/15021249 A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. lschriml 2012-06-13T03:09:31Z MESH:C566618 MIM:601815 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY disease_ontology DOID:0050722 PHGDH deficiency DOID:0050722 A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. url:http://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase url:http://www.ncbi.nlm.nih.gov/pubmed?term=18296366 url:http://www.omim.org/entry/601815 A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. lschriml 2012-06-13T03:09:31Z MIM:610992 Phosphoserine aminotransferase deficiency disease_ontology DOID:0050723 PSAT deficiency DOID:0050723 A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/ url:http://www.omim.org/entry/610992?search=610992&highlight=610992 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. lschriml 2012-06-13T03:09:31Z MIM:614023 PSPHD Phosphoserine phosphatase deficiency disease_ontology DOID:0050724 PSPH deficiency DOID:0050724 A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. url:http://en.wikipedia.org/wiki/PSPH url:http://www.omim.org/entry/614023 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79350 PSPHD A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. lschriml 2012-06-13T03:09:31Z MIM:276600 Oculocutaneous tyrosinemia Richner-Hanhart syndrome disease_ontology DOID:0050725 tyrosinemia type II DOID:0050725 A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. url:http://en.wikipedia.org/wiki/Tyrosinemia_type_II url:http://www.omim.org/entry/276600?search=276600&highlight=276600 A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. lschriml 2012-07-06T02:55:45Z MIM:276700 hepatorenal tyrosinemia disease_ontology DOID:0050726 tyrosinemia type I DOID:0050726 A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. url:http://en.wikipedia.org/wiki/Type_I_tyrosinemia A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. lschriml 2012-07-06T02:55:45Z MIM:276710 disease_ontology DOID:0050727 tyrosinemia type III DOID:0050727 A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. url:http://en.wikipedia.org/wiki/Type_III_tyrosinemia url:http://www.omim.org/entry/276710?search=tyrosinemia&highlight=tyrosinemia A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. lschriml 2012-07-13T10:42:54Z disease_ontology DOID:0050728 glycogen metabolism disorder DOID:0050728 A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. url:http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. lschriml 2012-07-17T12:31:48Z GARD:3979 MIM:275630 ORDO:98907 neutral lipid storage disease disease_ontology DOID:0050729 Chanarin-Dorfman syndrome DOID:0050729 A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. url:http://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. lschriml 2012-07-17T12:58:37Z GARD:10423 MIM:PS607426 COENZYME Q10 DEFICIENCY, PRIMARY disease_ontology DOID:0050730 coenzyme Q10 deficiency disease DOID:0050730 A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. url:http://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity A vitamin metabolic disorder that results from low blood levels of vitamin B12. lschriml 2012-07-17T01:01:29Z MESH:D014806 cobalamin deficiency hypocobalaminemia disease_ontology DOID:0050731 vitamin B12 deficiency DOID:0050731 A vitamin metabolic disorder that results from low blood levels of vitamin B12. url:http://en.wikipedia.org/wiki/B12_deficiency A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15 that causes inborn error of vitamin B12 metabolism. lschriml 2012-07-17T01:42:35Z disease_ontology DOID:0050732 methylmalonic aciduria and homocystinuria type cblE DOID:0050732 A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15 that causes inborn error of vitamin B12 metabolism. url:https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cb url:https://www.omim.org/entry/236270 A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism. lschriml 2012-07-17T01:42:35Z disease_ontology DOID:0050733 methylmalonic aciduria and homocystinuria type cblG DOID:0050733 A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism. url:https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cblf url:https://www.omim.org/entry/250940 A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. lschriml 2012-07-17T01:52:57Z MIM:261000 hereditary intrinsic factor deficiency disease_ontology DOID:0050734 congenital intrinsic factor deficiency DOID:0050734 A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. url:http://omim.org/entry/261000?search=261000&highlight=261000 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=332 url:https://www.ncbi.nlm.nih.gov/pubmed/14695536 A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. lschriml 2012-07-24T12:47:31Z disease_ontology DOID:0050735 X-linked monogenic disease DOID:0050735 A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. url:http://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. lschriml 2012-07-24T12:51:47Z disease_ontology DOID:0050736 autosomal dominant disease DOID:0050736 An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. url:http://ghr.nlm.nih.gov/glossary=autosomaldominant url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns url:http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. lschriml 2012-07-24T12:51:47Z disease_ontology DOID:0050737 autosomal recessive disease DOID:0050737 An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns url:http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm A monogenic disease that has_material_basis_in mutations on the Y chromosome. lschriml 2012-07-24T12:51:47Z disease_ontology DOID:0050738 Y-linked monogenic disease DOID:0050738 A monogenic disease that has_material_basis_in mutations on the Y chromosome. url:http://en.wikipedia.org/wiki/Genetic_disorder#Y-linked A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. lschriml 2012-07-24T04:45:53Z disease_ontology DOID:0050739 autosomal genetic disease DOID:0050739 A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. url:http://ghr.nlm.nih.gov/glossary=autosomaldominant url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. lschriml 2012-08-10T01:08:47Z GARD:371 MESH:C536259 MIM:600096 Dysharmonic skeletal maturation - muscular fibre disproportion Qazi-Markouizos syndrome disease_ontology DOID:0050740 Qazi Markouizos syndrome DOID:0050740 A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. url:http://omim.org/entry/600096 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3010 A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol. lschriml 2012-09-05T11:48:42Z KEGG:05034 MIM:103780 SNOMEDCT_US_2021_09_01:66590003 alcoholism disease_ontology DOID:0050741 alcohol dependence DOID:0050741 A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol. url:https://en.wikipedia.org/wiki/Alcohol_dependence A substance dependence that is characterized by a physical dependence on nicotine. lschriml 2012-09-05T11:48:42Z EFO:0003768 ICD10CM:F17 MESH:D014029 NCI:C54203 SNOMEDCT_US_2023_03_01:56294008 UMLS_CUI:C0028043 tobacco use disorder disease_ontology DOID:0050742 nicotine dependence DOID:0050742 A substance dependence that is characterized by a physical dependence on nicotine. url:https://en.wikipedia.org/wiki/Nicotine_dependence A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. lschriml 2012-09-18T01:56:52Z NK-T cell lymphoma mature T-cell and natural killer cell lymphoma disease_ontology DOID:0050743 mature T-cell and NK-cell lymphoma DOID:0050743 A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. url:http://www.cancer.gov/dictionary?CdrID=393800 url:http://www.cancer.gov/dictionary?CdrID=44062 url:https://www.ncbi.nlm.nih.gov/pubmed/21919697 A non-Hodgkin lymphoma involving aberrant T-cells. lschriml 2012-09-18T01:57:40Z ICDO:9714/3 NCI:C3720 disease_ontology DOID:0050744 anaplastic large cell lymphoma DOID:0050744 A non-Hodgkin lymphoma involving aberrant T-cells. url:http://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern. lschriml 2012-09-18T01:58:25Z GARD:3178 ICD11:2A81.Z ICDO:9680/3 MESH:D016403 NCI:C80280 DLBCL disease_ontology DOID:0050745 diffuse large B-cell lymphoma DOID:0050745 A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern. url:http://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C148392 url:https://www.ncbi.nlm.nih.gov/pubmed/28487884 DLBCL A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. lschriml 2012-09-18T02:00:45Z GARD:6969 ICDO:9673/3 MESH:D020522 disease_ontology DOID:0050746 mantle cell lymphoma DOID:0050746 A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. url:http://en.wikipedia.org/wiki/Mantle_cell_lymphoma A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells. lschriml 2012-09-18T02:00:45Z disease_ontology DOID:0050747 Xref MGI. obsolete lymphoplasmacytic lymphoma true DOID:0050747 A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells. url:http://en.wikipedia.org/wiki/Lymphoplasmacytic_lymphoma A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes. lschriml 2012-09-18T02:00:45Z ICDO:9699/3 MESH:D018442 marginal zone B-cell lymphoma disease_ontology DOID:0050748 marginal zone lymphoma DOID:0050748 A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes. url:http://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma url:http://www.cancer.gov/dictionary?CdrID=562554 A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. lschriml 2012-09-18T02:01:49Z GARD:7368 disease_ontology DOID:0050749 peripheral T-cell lymphoma DOID:0050749 A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. url:http://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. lschriml 2012-09-18T02:03:06Z NCI:C4663 disease_ontology DOID:0050750 splenic marginal zone lymphoma DOID:0050750 A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. url:http://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. lschriml 2012-09-18T02:05:41Z ICDO:9831/3 NCI:C4664 Large granular lymphocytic leukaemia Large granular lymphocytic leukemia T-cell large granular lymphocyte leukaemia disease_ontology DOID:0050751 T-cell large granular lymphocyte leukemia DOID:0050751 A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. url:http://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20. GARD:10499 MIM:608627 ALS8 amyotrophic lateral sclerosis 8 disease_ontology DOID:0050752 amyotrophic lateral sclerosis type 8 DOID:0050752 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/608627 ALS8 A hereditary ataxia that is characterized by ataxia originating in the cerebellum. lschriml 2013-01-16T01:07:02Z MESH:D002524 disease_ontology DOID:0050753 cerebellar ataxia DOID:0050753 A hereditary ataxia that is characterized by ataxia originating in the cerebellum. url:http://en.wikipedia.org/wiki/Cerebellar_ataxia An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene. lschriml 2013-01-16T01:07:02Z GARD:9283 MIM:208920 disease_ontology DOID:0050754 ataxia with oculomotor apraxia type 1 DOID:0050754 An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene. url:https://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1 An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal. lschriml 2013-01-16T01:07:02Z GARD:12860 MIM:606002 ORDO:64753 AOA2 SCAN2 SCAR1 ataxia with oculomotor apraxia type 2 autosomal recessive spinocerebellar ataxia 1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 spinocerebellar ataxia with axonal neuropathy type 2 disease_ontology DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 DOID:0050755 An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal. url:https://pubmed.ncbi.nlm.nih.gov/19696032/ url:https://pubmed.ncbi.nlm.nih.gov/23786967/ url:https://www.ncbi.nlm.nih.gov/books/NBK1154/ AOA2 SCAN2 SCAR1 2013-01-16T01:15:03Z disease_ontology DOID:0050756 obsolete CLN3 disease true DOID:0050756 A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria. lschriml 2013-01-16T01:20:50Z DOID:0050867 MESH:C535808 MIM:304700 ORDO:3213 Deafness Dystonia Optic Atrophy Syndrome Deafness Dystonia Optic Neuronopathy Syndrome Dystonia Deafness Syndrome Jensen syndrome Mohr-Tranebjaerg syndrome deafness dystonia syndrome disease_ontology DOID:0050757 deafness-dystonia-optic neuronopathy syndrome DOID:0050757 A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria. url:http://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome url:http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome url:http://omim.org/entry/304700 url:http://www.ncbi.nlm.nih.gov/books/NBK1216/ An acquired metabolic disease that characterized by excessive production of acid. lschriml 2013-01-16T01:23:37Z disease_ontology DOID:0050758 metabolic acidosis DOID:0050758 An acquired metabolic disease that characterized by excessive production of acid. url:http://en.wikipedia.org/wiki/Metabolic_acidosis url:https://medlineplus.gov/ency/article/000335.htm A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. lschriml 2013-01-16T01:27:31Z GARD:9728 ICD10CM:G71.1 ICD9CM:359.2 MESH:D020967 MIM:602668 NCI:C84913 ORDO:606 SNOMEDCT_US_2023_03_01:155096007 UMLS_CUI:C0553604 disease_ontology DOID:0050759 myotonic dystrophy type 2 DOID:0050759 A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy url:http://www.ncbi.nlm.nih.gov/books/NBK1466/ A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28. lschriml 2013-01-16T01:29:01Z GARD:3892 MIM:310440 XMEA disease_ontology DOID:0050760 X-linked myopathy with excessive autophagy DOID:0050760 A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28. url:https://rarediseases.org/rare-diseases/x-linked-myopathy-with-excessive-autophagy/ XMEA lschriml 2013-01-16T01:30:21Z disease_ontology DOID:0050761 obsolete paramyloidosis true DOID:0050761 An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency. lschriml 2013-01-17T12:42:58Z GARD:550 MIM:103050 disease_ontology DOID:0050762 adenylosuccinase lyase deficiency DOID:0050762 An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency. url:https://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. lschriml 2013-01-17T12:46:38Z MIM:PS208085 ORDO:2697 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis disease_ontology DOID:0050763 ARC syndrome DOID:0050763 A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. url:http://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/16896922 url:https://www.ncbi.nlm.nih.gov/pubmed/22753090 url:https://www.ncbi.nlm.nih.gov/pubmed/24415890 A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. lschriml 2013-01-17T12:48:15Z ICD10CM:Q87.8 MIM:300261 ORDO:85276 Armfield X-linked mental retardation syndrome MRXSA X-linked intellectual disability, Armfield type mental retardation syndrome, X-linked, Armfield type syndromic X-linked mental retardation Armfield type disease_ontology DOID:0050764 Armfield syndrome DOID:0050764 A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/10398235 MRXSA A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. lschriml 2013-01-17T12:54:19Z GARD:10902 MESH:D054546 ORDO:263440 disease_ontology DOID:0050765 neuroacanthocytosis DOID:0050765 A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. url:https://en.wikipedia.org/wiki/Neuroacanthocytosis url:https://rarediseases.org/rare-diseases/neuroacanthocytosis/ url:https://www.ncbi.nlm.nih.gov/books/NBK1387/ A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21. lschriml 2013-01-17T12:54:19Z GARD:3956 MESH:D054546 MIM:200150 NCI:C84926 ORDO:2388 SNOMEDCT_US_2023_03_01:26848004 UMLS_CUI:C0393576 Levine-Critchley syndrome choreo-acanthocytosis disease_ontology DOID:0050766 choreaacanthocytosis DOID:0050766 A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21. url:https://en.wikipedia.org/wiki/Chorea_acanthocytosis url:https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis url:https://www.ncbi.nlm.nih.gov/pubmed/9382101 An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele. lschriml 2013-02-21T11:19:14Z disease_ontology DOID:0050767 midface dysplasia DOID:0050767 An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele. url:https://en.wikipedia.org/wiki/Frontonasal_dysplasia A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11. lschriml 2013-02-21T11:26:46Z MIM:604273 MC5DN1 disease_ontology DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 DOID:0050768 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11. url:http://omim.org/entry/604273 MC5DN1 A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity. lschriml 2013-02-21T11:32:26Z GARD:3902 MESH:C536108 MIM:310465 ORDO:2608 NSX disease_ontology DOID:0050769 N syndrome DOID:0050769 A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity. url:https://rarediseases.info.nih.gov/diseases/3902/n-syndrome NSX A liver disease that is characterized by the presence of multiple cysts located_in the liver. lschriml 2013-02-21T11:36:13Z DOID:1173 GARD:9457 MESH:C536330 congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease disease_ontology DOID:0050770 polycystic liver disease DOID:0050770 A liver disease that is characterized by the presence of multiple cysts located_in the liver. url:https://rarediseases.org/rare-diseases/polycystic-liver-disease/ An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure. lschriml 2013-02-21T11:40:58Z GARD:7385 ICDO:8700/0 MESH:D010673 MIM:171300 phaeochromocytoma disease_ontology DOID:0050771 pheochromocytoma DOID:0050771 An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure. url:https://en.wikipedia.org/wiki/Pheochromocytoma url:https://rarediseases.info.nih.gov/diseases/7385/pheochromocytoma url:https://www.mayoclinic.org/diseases-conditions/pheochromocytoma/symptoms-causes/syc-20355367 url:https://www.omim.org/entry/171300 A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13. lschriml 2015-09-17T14:42:06Z MIM:108600 disease_ontology DOID:0050772 spastic ataxia 1 DOID:0050772 A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13. url:https://rarediseases.info.nih.gov/diseases/4910/spastic-ataxia-charlevoix-saguenay-type A pheochromocytoma that arises in extraadrenal sympathetic ganglia. lschriml 2013-02-21T11:51:57Z ICDO:8680/3 MESH:D010235 MIM:115310 MIM:168000 MIM:601650 MIM:605373 MIM:614165 MIM:PS168000 NCI:C3308 SNOMEDCT_US_2023_03_01:302833002 UMLS_CUI:C0030421 chemodectoma glomus body tumor disease_ontology DOID:0050773 Xref MGI. paraganglioma DOID:0050773 A pheochromocytoma that arises in extraadrenal sympathetic ganglia. url:https://en.wikipedia.org/wiki/Paraganglioma url:https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. lschriml 2013-02-21T11:56:15Z GARD:4637 MESH:C535288 MIM:266280 ORDO:3021 SNOMEDCT_US_2023_03_01:702413000 UMLS_CUI:C1849453 disease_ontology DOID:0050774 rapadilino syndrome DOID:0050774 A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. url:https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31. lschriml 2013-02-21T12:00:39Z GARD:169 MESH:C536637 MIM:269250 disease_ontology DOID:0050775 schneckenbecken dysplasia DOID:0050775 An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31. url:https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. lschriml 2013-02-21T12:06:40Z MIM:300716 ORDO:777 non-specific X-linked mental retardation disease_ontology DOID:0050776 Xref MGI. non-syndromic X-linked intellectual disability DOID:0050776 A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. url:https://www.ncbi.nlm.nih.gov/pubmed/7011032 A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. lschriml 2013-04-04T11:25:32Z GARD:6802 ICD10CM:Q04.3 MIM:PS213300 ORDO:475 JBTS disease_ontology DOID:0050777 Xref MGI. Joubert syndrome DOID:0050777 A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. url:http://en.wikipedia.org/wiki/Joubert_syndrome url:http://omim.org/entry/213300?search=joubert&highlight=joubert JBTS A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. lschriml 2013-04-04T11:28:16Z GARD:3436 ICD9CM:753.1 MIM:PS249000 ORDO:564 SNOMEDCT_US_2023_03_01:204954005 UMLS_CUI:C0311245 Meckel-Gruber syndrome disease_ontology DOID:0050778 Xref MGI. Meckel syndrome DOID:0050778 A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. url:http://en.wikipedia.org/wiki/Meckel_syndrome url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract A syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. lschriml 2013-06-24T12:50:06Z GARD:6683 ICD10CM:Q87.8 MESH:C536079 MIM:PS236680 ORDO:2189 Salonen-Herva-Norio syndrome disease_ontology DOID:0050779 Xref MGI. hydrolethalus syndrome DOID:0050779 A syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33 url:https://www.ncbi.nlm.nih.gov/pubmed/15843405 A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects. lschriml 2013-06-24T01:18:03Z disease_ontology DOID:0050780 obsolete Opitz-GBBB syndrome true DOID:0050780 A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects. url:http://www.genome.jp/dbget-bin/www_bget?ds:H00583 url:http://www.ncbi.nlm.nih.gov/books/NBK1327/ url:http://www.ncbi.nlm.nih.gov/books/NBK1523/ url:https://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28. lschriml 2013-07-17T10:18:00Z MIM:300855 ORDO:276432 N-alpha-acetyltransferase N-terminal acetyltransferase deficiency OGDNS X-linked Malformation and Infantile Lethality Syndrome disease_ontology DOID:0050781 Ogden syndrome DOID:0050781 A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28. url:https://en.wikipedia.org/wiki/Ogden_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/21700266 OGDNS A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. lschriml 2013-10-23T12:51:49Z GARD:7918 ICD10CM:E16.4 MESH:D015043 NCI:C3453 SNOMEDCT_US_2023_03_01:267477002 UMLS_CUI:C0043515 disease_ontology DOID:0050782 Zollinger-Ellison syndrome DOID:0050782 A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. url:http://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract url:https://www.ncbi.nlm.nih.gov/pubmed/28949124 url:https://www.niddk.nih.gov/health-information/digestive-diseases/zollinger-ellison-syndrome A multiple sclerosis that is characterized by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks. lschriml 2013-11-07T11:22:49Z MESH:D020528 SNOMEDCT_US_2023_03_01:425500002 UMLS_CUI:C0751965 SPMS Secondary-progressive MS disease_ontology DOID:0050783 secondary progressive multiple sclerosis MESH:D020528 DOID:0050783 A multiple sclerosis that is characterized by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks. url:http://www.mayoclinic.org/multiple-sclerosis/types.html url:http://www.mssociety.org.uk/what-is-ms/types-of-ms/secondary-progressive-spms SPMS A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. lschriml 2013-11-07T11:26:58Z MESH:D020528 SNOMEDCT_US_2023_03_01:428700003 UMLS_CUI:C0751964 PPMS Primary-progressive MS disease_ontology DOID:0050784 primary progressive multiple sclerosis MESH:D020528 DOID:0050784 A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. url:http://www.mayoclinic.org/multiple-sclerosis/types.html url:http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx PPMS A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. lschriml 2013-11-07T11:32:37Z MESH:D020528 SNOMEDCT_US_2023_03_01:724778008 UMLS_CUI:C0393666 PRMS Progressive-relapsing MS disease_ontology DOID:0050785 progressive relapsing multiple sclerosis MESH:D020528 DOID:0050785 A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. url:https://pubmed.ncbi.nlm.nih.gov/35400704/ PRMS An iris disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene. lschriml 2013-11-12T10:28:51Z GARD:3026 MIM:137600 MIM:601631 ORDO:98634 IGDS IRID 1 IRID 2 iridogoniodysgenesis type 1 iridogoniodysgenesis type 2 disease_ontology DOID:0050786 Xref MGI. iridogoniodysgenesis syndrome DOID:0050786 An iris disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene. url:http://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/19175065 IGDS IRID 1 IRID 2 A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. lschriml 2013-11-12T11:25:28Z GARD:3065 MESH:C537702 MIM:174900 disease_ontology DOID:0050787 juvenile polyposis syndrome DOID:0050787 A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. url:http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome url:http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome url:http://www.ncbi.nlm.nih.gov/books/NBK1469/ A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. lschriml 2013-11-12T11:43:22Z GARD:8182 KEGG:H00484 MIM:PS185800 ORDO:3250 Cushing's symphalangism disease_ontology DOID:0050788 proximal symphalangism DOID:0050788 A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. url:https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-019-0864-1 A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. lschriml 2013-11-12T11:50:00Z GARD:9225 MIM:186570 ORDO:1412 disease_ontology DOID:0050789 tarsal-carpal coalition syndrome DOID:0050789 A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. url:http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/22326510 An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly. lschriml 2013-11-12T12:21:56Z KEGG:H00467 MESH:C537931 MIM:228900 ORDO:2639 Du Pan syndrome acromesomelic dysplasia-2B disease_ontology DOID:0050790 fibular hypoplasia and complex brachydactyly DOID:0050790 An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly. url:https://en.wikipedia.org/wiki/Acromesomelic_dysplasia url:https://www.ncbi.nlm.nih.gov/pubmed/16222676 A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male. lschriml 2013-11-12T12:26:49Z GARD:8435 MESH:C536665 MIM:261550 NCI:C120188 SNOMEDCT_US_2023_03_01:702358005 UMLS_CUI:C1849930 persistent Muellerian duct syndrome disease_ontology DOID:0050791 persistent Mullerian duct syndrome DOID:0050791 A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male. url:http://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome url:http://omim.org/entry/261550?search=261550&highlight=261550 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 url:https://www.ncbi.nlm.nih.gov/pubmed/20352001 A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21. lschriml 2013-11-12T12:38:33Z MESH:C563977 MIM:600195 ORDO:2451 SNOMEDCT_US_2023_03_01:699301008 UMLS_CUI:C1838437 VMCM cutaneomucosal venous malformation mucocutaneous venous malformations disease_ontology DOID:0050792 multiple cutaneous and mucosal venous malformations DOID:0050792 A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21. url:http://omim.org/entry/600195?search=600195&highlight=600195 url:https://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations/ url:https://www.ncbi.nlm.nih.gov/pubmed/20301733 VMCM A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. lschriml 2013-11-12T12:59:42Z MIM:609620 MIM:609621 MIM:609622 disease_ontology DOID:0050793 short QT syndrome DOID:0050793 A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. url:http://en.wikipedia.org/wiki/Short_QT_syndrome url:http://ghr.nlm.nih.gov/condition/short-qt-syndrome url:http://omim.org/entry/609620?search=SHORT%20QT%20SYNDROME&highlight=syndromic%20short%20qt%20syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083 A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. lschriml 2013-11-12T01:08:42Z MIM:PS186500 ORDO:3237 disease_ontology DOID:0050794 multiple synostoses syndrome DOID:0050794 A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/ A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. lschriml 2013-11-12T01:19:22Z GARD:11897 MESH:D000077765 retinal cone dystrophy disease_ontology DOID:0050795 cone dystrophy MESH:D000077765 DOID:0050795 A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. url:http://en.wikipedia.org/wiki/Cone_dystrophy url:http://www.ncbi.nlm.nih.gov/books/NBK1418/ A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). lschriml 2013-11-20T03:01:06Z GARD:456 MESH:C536010 MIM:200450 ORDO:929 SNOMEDCT_US_2023_03_01:718573009 UMLS_CUI:C1860212 ACHALASIA-MICROCEPHALY SYNDROME Achalasia microcephaly disease_ontology DOID:0050796 achalasia microcephaly syndrome DOID:0050796 A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). url:https://en.wikipedia.org/wiki/Achalasia_microcephaly A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1. lschriml 2013-11-21T10:47:41Z GARD:4543 MESH:C536662 MIM:264470 NCI:C170437 ORDO:2971 SNOMEDCT_US_2023_03_01:238069004 UMLS_CUI:C1849678 Peroxisomal acyl-coenzyme A oxidase disease_ontology DOID:0050797 peroxisomal acyl-CoA oxidase deficiency GARD:4543 NCI:C170437 ORDO:2971 SNOMEDCT_US_2023_03_01:238069004 UMLS_CUI:C1849678 DOID:0050797 A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1. url:http://www.omim.org/entry/264470 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971 url:https://www.ncbi.nlm.nih.gov/pubmed/11815777 url:https://www.ncbi.nlm.nih.gov/pubmed/17458872 url:https://www.ncbi.nlm.nih.gov/pubmed/18536048 An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28. lschriml 2013-11-21T12:10:58Z MIM:PS300352 disease_ontology DOID:0050798 cerebral creatine deficiency syndrome DOID:0050798 An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/17603797 url:https://www.omim.org/entry/300352 A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13. lschriml 2013-11-21T12:10:58Z GARD:2578 MESH:C537622 MIM:612736 Cerebral creatine deficiency syndrome 2 GAMT deficiency disease_ontology DOID:0050799 guanidinoacetate methyltransferase deficiency DOID:0050799 A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13. url:https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28. lschriml 2013-11-21T12:10:58Z MIM:300352 CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency disease_ontology DOID:0050800 cerebral creatine deficiency syndrome 1 DOID:0050800 A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/17603797 url:https://www.omim.org/entry/300352 An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males. lschriml 2013-11-21T12:48:07Z GARD:9269 MIM:109200 MIM:300710 MIM:612421 alopecia androgenetica, male pattern baldness androgenetic alopecia disease_ontology DOID:0050801 androgenic alopecia DOID:0050801 An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males. url:https://ghr.nlm.nih.gov/condition/androgenetic-alopecia An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. lschriml 2013-12-02T11:55:24Z MIM:615349 ORDO:75496 SNOMEDCT_US_2023_03_01:720861000 UMLS_CUI:C1869122 EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type disease_ontology XGPT deficiency defective biosynthesis of proteodermatan sulfate xylosylprotein 4-beta-galactosyltransferase deficiency DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 DOID:0050802 An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. url:http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. lschriml 2013-12-02T12:40:57Z disease_ontology DOID:0050803 glioblastoma classical subtype DOID:0050803 A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes url:http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475 url:https://www.ncbi.nlm.nih.gov/pubmed/20129251 url:https://www.ncbi.nlm.nih.gov/pubmed/23029035 A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. lschriml 2013-12-02T12:40:57Z disease_ontology DOID:0050804 glioblastoma proneural subtype DOID:0050804 A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes url:https://www.ncbi.nlm.nih.gov/pubmed/20129251 url:https://www.ncbi.nlm.nih.gov/pubmed/23029035 A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. lschriml 2013-12-02T12:40:57Z disease_ontology DOID:0050805 glioblastoma mesenchymal subtype DOID:0050805 A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes url:https://www.ncbi.nlm.nih.gov/pubmed/20129251 url:https://www.ncbi.nlm.nih.gov/pubmed/23029035 A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons. lschriml 2013-12-02T12:40:57Z disease_ontology DOID:0050806 glioblastoma neural subtype DOID:0050806 A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons. url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes url:https://www.ncbi.nlm.nih.gov/pubmed/20129251 url:https://www.ncbi.nlm.nih.gov/pubmed/23029035 A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. lschriml 2013-12-02T02:28:58Z MESH:C567196 MIM:612713 ORDO:168972 KHRZ intellectual disability, Kahrizi type intellectual disability-cataract-coloboma-kyphosis syndrome disease_ontology DOID:0050807 Kahrizi syndrome DOID:0050807 A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. url:http://omim.org/entry/612713?search=Kahrizi%20syndrome&highlight=syndromic%20kahrizi%20syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972 KHRZ A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. lschriml 2013-12-02T02:56:58Z MIM:601492 disease_ontology DOID:0050809 mucopolysaccharidosis IX DOID:0050809 A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth. lschriml 2013-12-02T03:46:44Z MESH:C531633 B7 deficiency disease_ontology DOID:0050810 biotin deficiency DOID:0050810 A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth. url:http://en.wikipedia.org/wiki/Biotin_deficiency url:http://www.nlm.nih.gov/medlineplus/druginfo/natural/313.html url:https://www.ncbi.nlm.nih.gov/books/NBK547751/ A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency. lschriml 2013-12-04T12:52:02Z GARD:1465 GARD:1467 ICD10CM:E25 ICD9CM:255.2 MIM:201710 MIM:201810 MIM:201910 MIM:202010 MIM:202110 ORDO:418 SNOMEDCT_US_2023_03_01:154706003 UMLS_CUI:C0701163 adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH disease_ontology DOID:0050811 Xref MGI. congenital adrenal hyperplasia DOID:0050811 A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency. url:http://omim.org/entry/201710 url:http://www.genome.jp/dbget-bin/www_bget?ds:H00216 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0 A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. lschriml 2013-12-04T01:24:55Z MESH:C567551 MIM:612847 spondyloepimetaphyseal dysplasia Pakistani type disease_ontology DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type DOID:0050812 A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. url:http://omim.org/entry/612847 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282 A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. lschriml 2013-12-04T01:30:01Z MIM:143095 CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis disease_ontology DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations DOID:0050813 A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. url:http://www.uniprot.org/diseases/DI-01753 A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. lschriml 2013-12-05T12:12:10Z GARD:9679 MESH:C536958 MIM:605282 ORDO:363417 SNOMEDCT_US_2023_03_01:777998000 UMLS_CUI:C1854466 PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE disease_ontology DOID:0050814 temtamy preaxial brachydactyly syndrome DOID:0050814 A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417 url:http://www.sciencedirect.com/science/article/pii/S1769721213002449 url:https://www.ncbi.nlm.nih.gov/pubmed/21129728 An eye and adnexa disease that is located_in the adnexa of the eye. lschriml 2013-12-05T12:55:42Z disease_ontology DOID:0050815 obsolete eye adnexa disease true DOID:0050815 An eye and adnexa disease that is located_in the adnexa of the eye. url:http://en.wikipedia.org/wiki/Accessory_visual_structures A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. lschriml 2013-12-05T01:10:52Z GARD:2781 MESH:C536480 MIM:236730 MIM:615112 MIM:PS236730 ORDO:2704 Ochoa syndrome hydronephrosis with peculiar facial expression disease_ontology DOID:0050816 urofacial syndrome DOID:0050816 A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. url:http://en.wikipedia.org/wiki/Urofacial_syndrome url:http://omim.org/entry/236730 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2704 An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. lschriml 2013-12-11T01:49:54Z GARD:181 MESH:D000080362 MIM:248200 MIM:600110 MIM:603786 STARGARDT DISEASE 1 disease_ontology DOID:0050817 Stargardt disease DOID:0050817 An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. url:http://en.wikipedia.org/wiki/Stargardt_disease A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. lschriml 2013-12-11T02:48:06Z MIM:275350 TCN2 deficiency disease_ontology DOID:0050818 transcobalamin II deficiency DOID:0050818 A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. url:http://omim.org/entry/275350 url:https://www.orpha.net/data/patho/GB/uk-TCII.pdf A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect. lschriml 2013-12-11T03:11:49Z disease_ontology DOID:0050819 obsolete Matthew-Wood syndrome true DOID:0050819 A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect. url:https://www.ncbi.nlm.nih.gov/pubmed/17236193 A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. lschriml 2014-02-12T01:35:05Z ICD10CM:I44.3 ICD9CM:426.10 MESH:D054537 NCI:C26703 SNOMEDCT_US_2023_03_01:58547007 UMLS_CUI:C0004245 AV block disease_ontology DOID:0050820 atrioventricular block MESH:D054537 DOID:0050820 A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. url:http://en.wikipedia.org/wiki/Atrioventricular_block An atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node. lschriml 2014-02-12T01:39:42Z disease_ontology DOID:0050821 first-degree atrioventricular block DOID:0050821 An atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node. url:https://en.wikipedia.org/wiki/First-degree_atrioventricular_block An atrioventricular block that is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave on electrocardiogram or intermittently non-conducted P waves not preceded by PR changes on electrocardiogram caused by a conduction block between the atria and the ventricles through the atrioventricular node. lschriml 2014-02-12T01:39:42Z second-degree heart block disease_ontology DOID:0050822 second-degree atrioventricular block DOID:0050822 An atrioventricular block that is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave on electrocardiogram or intermittently non-conducted P waves not preceded by PR changes on electrocardiogram caused by a conduction block between the atria and the ventricles through the atrioventricular node. url:https://en.wikipedia.org/wiki/Second-degree_atrioventricular_block An atrioventricular block that is characterized by bradycardia, hypotension, hemodynamic instability and complete dissociation between P waves and QRS complexes on electrocardiogram caused when conduction fails to propagate from atria to ventricles. lschriml 2014-02-12T01:39:42Z complete AV block disease_ontology DOID:0050823 third-degree atrioventricular block DOID:0050823 An atrioventricular block that is characterized by bradycardia, hypotension, hemodynamic instability and complete dissociation between P waves and QRS complexes on electrocardiogram caused when conduction fails to propagate from atria to ventricles. url:https://en.wikipedia.org/wiki/Third-degree_atrioventricular_block A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. lschriml 2014-02-12T01:47:54Z SA node sinuatrial node disease_ontology DOID:0050824 sinoatrial node disease DOID:0050824 A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. url:http://en.wikipedia.org/wiki/Sinoatrial_node A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. lschriml 2014-02-12T01:53:42Z disease_ontology DOID:0050825 endocardium disease DOID:0050825 A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. url:http://en.wikipedia.org/wiki/Endocardium A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle. lschriml 2014-02-12T02:55:24Z DOID:13834 ICD10CM:I07 ICD9CM:397.0 SNOMEDCT_US_2023_03_01:49699002 UMLS_CUI:C0264776 RH. tricuspid valve disease Rheumatic disease of tricuspid valve Tricuspid disease disease of tricuspid valve rheumatic tricuspid valve disease disease_ontology DOID:0050826 tricuspid valve disease DOID:0050826 A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494422/ A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords. lschriml 2014-02-12T03:03:38Z DOID:9814 MESH:D012214 rheumatic carditis disease_ontology DOID:0050827 rheumatic heart disease DOID:0050827 A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords. url:http://en.wikipedia.org/wiki/Rheumatic_heart_disease A vascular disease that is located_in an artery. lschriml 2014-02-12T03:08:35Z disease_ontology DOID:0050828 artery disease DOID:0050828 A vascular disease that is located_in an artery. url:http://en.wikipedia.org/wiki/Artery#Pathology A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. lschriml 2014-02-18T12:20:15Z disease_ontology DOID:0050829 pericardium disease DOID:0050829 A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. url:http://en.wikipedia.org/wiki/Pericardium An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. lschriml 2014-02-18T12:41:09Z MESH:D058729 disease_ontology DOID:0050830 peripheral artery disease DOID:0050830 An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. url:http://www.nlm.nih.gov/medlineplus/ency/article/000170.htm url:https://www.nhlbi.nih.gov/health/health-topics/topics/pad/ A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. lschriml 2014-02-24T10:14:57Z GARD:10037 MESH:C536841 MIM:604218 FENIB disease_ontology DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies DOID:0050831 A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. url:http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies url:http://www.jbc.org/content/277/19/17367 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport FENIB An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. lschriml 2014-02-24T10:29:22Z disease_ontology DOID:0050832 pyrimidine metabolic disorder DOID:0050832 An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. url:http://en.wikipedia.org/wiki/Pyrimidine_metabolism A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. lschriml 2014-02-24T10:29:22Z MIM:258900 disease_ontology DOID:0050833 orotic aciduria DOID:0050833 A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. url:http://en.wikipedia.org/wiki/Orotic_aciduria url:http://www.omim.org/entry/258900 A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. lschriml 2014-03-18T11:58:38Z GARD:29 MESH:D058747 MIM:214800 NCI:C75100 ORDO:138 SNOMEDCT_US_2023_03_01:47535005 UMLS_CUI:C0265354 UMLS_CUI:C2936502 CHARGE association disease_ontology DOID:0050834 CHARGE syndrome MESH:D058747 DOID:0050834 A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. url:http://en.wikipedia.org/wiki/CHARGE_syndrome url:http://ghr.nlm.nih.gov/condition/charge-syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract A dystonia that affects most or all of the body. lschriml 2014-03-18T01:13:36Z DOID:11910 DOID:11911 DOID:11912 DOID:14164 DOID:5159 DOID:531 ICD10CM:G24.1 ICD10CM:G24.2 ICD9CM:333.6 ICD9CM:333.8 MESH:D004422 MESH:D020821 NCI:C34564 NCI:C35437 NCI:C35438 NCI:C35527 SNOMEDCT_US_2023_03_01:192852006 SNOMEDCT_US_2023_03_01:192859002 SNOMEDCT_US_2023_03_01:22451001 SNOMEDCT_US_2023_03_01:230321007 SNOMEDCT_US_2023_03_01:267584007 UMLS_CUI:C0013423 UMLS_CUI:C0154674 UMLS_CUI:C0154675 UMLS_CUI:C0393598 UMLS_CUI:C0393601 UMLS_CUI:C0752207 familial dystonia fragments of torsion dystonia disease_ontology Dystonia 12 DOID:0050835 MESH:C538001 added from NeuroDevNet [WAK]. generalized dystonia DOID:0050835 A dystonia that affects most or all of the body. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm Dystonia 12 MESH:C538001 A dystonia that is localized to a specific part of the body. lschriml 2014-03-18T01:13:36Z GARD:6458 disease_ontology DOID:0050836 focal dystonia DOID:0050836 A dystonia that is localized to a specific part of the body. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A dystonia that involves two or more unrelated body parts. lschriml 2014-03-18T01:13:36Z disease_ontology DOID:0050837 multifocal dystonia DOID:0050837 A dystonia that involves two or more unrelated body parts. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A dystonia that affects two or more adjacent parts of the body. lschriml 2014-03-18T01:13:36Z disease_ontology DOID:0050838 segmental dystonia DOID:0050838 A dystonia that affects two or more adjacent parts of the body. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation. lschriml 2014-03-18T01:30:33Z disease_ontology DOID:0050839 anismus DOID:0050839 A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation. url:https://en.wikipedia.org/wiki/Anismus A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. lschriml 2014-03-18T01:30:33Z GARD:10668 spasmodic torticollis disease_ontology DOID:0050840 cervical dystonia DOID:0050840 A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. url:http://en.wikipedia.org/wiki/Spasmodic_torticollis url:http://www.ncbi.nlm.nih.gov/books/NBK1155/ A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. lschriml 2014-03-18T01:30:33Z DOID:13467 ICD9CM:333.84 SNOMEDCT_US_2023_03_01:52008007 UMLS_CUI:C0154676 organic writer's cramp disease_ontology DOID:0050841 focal hand dystonia DOID:0050841 A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. url:http://en.wikipedia.org/wiki/Dystonia A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. lschriml 2014-03-18T01:30:33Z disease_ontology DOID:0050842 oculogyric crisis DOID:0050842 A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. url:http://en.wikipedia.org/wiki/Oculogyric_crisis A focal dystonia that is characterized by distortions of the mouth and tongue. lschriml 2014-03-18T01:30:33Z disease_ontology DOID:0050843 oromandibular dystonia DOID:0050843 A focal dystonia that is characterized by distortions of the mouth and tongue. url:http://en.wikipedia.org/wiki/Oromandibular_dystonia A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. lschriml 2014-03-18T01:30:33Z laryngeal dystonia disease_ontology DOID:0050844 spasmodic dystonia DOID:0050844 A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. url:http://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. lschriml 2014-03-18T01:33:33Z disease_ontology DOID:0050845 cranio-facial dystonia DOID:0050845 A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A multifocal dystonia that involves the arm and leg on the same side of the body. lschriml 2014-03-18T01:39:30Z disease_ontology DOID:0050846 hemidystonia DOID:0050846 A multifocal dystonia that involves the arm and leg on the same side of the body. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. lschriml 2014-03-20T03:57:22Z ICD10CM:G47.3 ICD9CM:780.57 MESH:D012891 NCI:C26884 SNOMEDCT_US_2023_03_01:206750008 UMLS_CUI:C0037315 disease_ontology DOID:0050847 sleep apnea DOID:0050847 A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/ url:http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/ A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. lschriml 2014-03-20T03:57:22Z ICD10CM:G47.33 ICD9CM:327.23 MESH:D020181 MIM:107650 NCI:C116337 SNOMEDCT_US_2023_03_01:194441007 UMLS_CUI:C0520679 obstructive sleep apnea syndrome disease_ontology DOID:0050848 Xref MGI. obstructive sleep apnea DOID:0050848 A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. url:http://en.wikipedia.org/wiki/Obstructive_sleep_apnea url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 url:http://www.nlm.nih.gov/medlineplus/ency/article/000811.htm url:https://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1 An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential. lschriml 2014-04-15T03:26:13Z disease_ontology DOID:0050849 periampullary adenoma DOID:0050849 An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244941/ A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes. lschriml 2014-04-15T03:33:49Z disease_ontology DOID:0050850 diabetic encephalopathy DOID:0050850 A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes. url:http://link.springer.com/chapter/10.1007%2F978-1-59745-311-0_11#page-1 url:https://www.ncbi.nlm.nih.gov/pubmed/20798963 A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. lschriml 2014-04-15T03:40:31Z disease_ontology DOID:0050851 glomerulosclerosis DOID:0050851 A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. url:http://en.wikipedia.org/wiki/Glomerulosclerosis An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply. lschriml 2014-04-15T03:46:27Z disease_ontology DOID:0050852 limb ischemia DOID:0050852 An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply. url:https://en.wikipedia.org/wiki/Ischemia A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins. lschriml 2014-04-15T03:50:26Z disease_ontology DOID:0050853 chronic venous insufficiency DOID:0050853 A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins. url:https://en.wikipedia.org/wiki/Chronic_venous_insufficiency A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. lschriml 2014-04-15T03:53:41Z GARD:8472 ICD10CM:M04.2 MEDDRA:10064569 MESH:D056587 MIM:191900 NCI:C119054 ORDO:575 SNOMEDCT_US_2023_03_01:15123008 UMLS_CUI:C0268390 MWS neutrophilic urticaria disease_ontology DOID:0050854 Muckle-Wells syndrome DOID:0050854 A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. url:https://www.ncbi.nlm.nih.gov/pubmed/11687797 url:https://www.ncbi.nlm.nih.gov/pubmed/11992256 MWS A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function. lschriml 2014-04-15T03:56:58Z disease_ontology DOID:0050855 renal fibrosis DOID:0050855 A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776335/ A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents. lschriml 2014-04-15T04:03:08Z disease_ontology DOID:0050856 oppositional defiant disorder DOID:0050856 A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents. url:https://en.wikipedia.org/wiki/Oppositional_defiant_disorder A syndrome that is characterized by sensorineural hearing loss and ovarian failure. lschriml 2014-04-24T01:56:35Z GARD:2542 MIM:233400 MIM:614129 MIM:615300 MIM:PS233400 ORDO:2855 disease_ontology DOID:0050857 Perrault syndrome DOID:0050857 A syndrome that is characterized by sensorineural hearing loss and ovarian failure. url:http://ghr.nlm.nih.gov/gene/LARS2 url:https://www.ncbi.nlm.nih.gov/pubmed/23541340 A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. lschriml 2014-04-24T02:06:30Z GARD:6985 MESH:C536026 MIM:602535 ORDO:561 disease_ontology DOID:0050858 Marshall-Smith syndrome DOID:0050858 A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. url:http://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract. lschriml 2014-04-29T01:31:08Z disease_ontology DOID:0050859 hemorrhagic cystitis DOID:0050859 A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract. url:https://en.wikipedia.org/wiki/Hemorrhagic_cystitis An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum. lschriml 2014-05-05T03:14:49Z disease_ontology DOID:0050860 colorectal adenoma DOID:0050860 An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum. url:https://en.wikipedia.org/wiki/Colorectal_adenoma A colorectal carcinoma that derives_from epithelial cells of glandular origin. lschriml 2014-05-05T03:16:55Z NCI:C5105 SNOMEDCT_US_2023_03_01:408645001 UMLS_CUI:C1319315 disease_ontology DOID:0050861 colorectal adenocarcinoma DOID:0050861 A colorectal carcinoma that derives_from epithelial cells of glandular origin. url:http://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma url:http://en.wikipedia.org/wiki/Adenocarcinoma A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity. lschriml 2014-05-05T03:25:57Z disease_ontology DOID:0050862 pyometritis DOID:0050862 A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity. url:https://www.ncbi.nlm.nih.gov/pubmed/16284801 An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis. lschriml 2014-05-09T02:38:13Z disease_ontology DOID:0050863 arteritic anterior ischemic optic neuropathy DOID:0050863 An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis. url:https://en.wikipedia.org/wiki/Arteritic_anterior_ischemic_optic_neuropathy An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease. lschriml 2014-05-09T02:38:13Z non-arteritic anterior ischaemic optic neuropathy nonarteritic anterior ischaemic optic neuropathy nonarteritic anterior ischemic optic neuropathy disease_ontology DOID:0050864 non-arteritic anterior ischemic optic neuropathy DOID:0050864 An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721361/ A head and neck squamous cell carcinoma that is located_in the tongue. lschriml 2014-05-12T02:38:44Z NCI:C4648 SNOMEDCT_US_2023_03_01:276952000 UMLS_CUI:C0349566 disease_ontology DOID:0050865 tongue squamous cell carcinoma DOID:0050865 A head and neck squamous cell carcinoma that is located_in the tongue. url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma An oral cavity cancer that has_material_basis_in squamous cells. lschriml 2014-05-12T02:45:04Z GARD:7263 mouth squamous cell carcinoma disease_ontology DOID:0050866 oral squamous cell carcinoma DOID:0050866 An oral cavity cancer that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. lschriml 2014-06-03T01:18:20Z opticoacoustic nerve atrophy with dementia disease_ontology DOID:0050867 obsolete Jensen syndrome true DOID:0050867 A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2868&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3213&Disease(s)/group%20of%20diseases=Jensen-syndrome&title=Jensen-syndrome&search=Disease_Search_Simple url:https://www.ncbi.nlm.nih.gov/pubmed/3425626 url:https://www.ncbi.nlm.nih.gov/pubmed/7195649 A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. lschriml 2014-06-25T05:07:35Z disease_ontology DOID:0050868 hepatocellular adenoma DOID:0050868 A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. url:https://en.wikipedia.org/wiki/Hepatocellular_adenoma An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body. lschriml 2014-06-25T05:08:30Z ICDO:8261/0 disease_ontology DOID:0050869 villous adenoma DOID:0050869 An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/villous-adenoma A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. lschriml 2014-06-25T05:10:52Z bronchioalveolar carcinoma disease_ontology DOID:0050870 pulmonary adenocarcinoma in situ DOID:0050870 A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. url:http://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue. lschriml 2014-06-25T05:14:03Z ICDO:8810/0 MESH:D005350 disease_ontology DOID:0050871 fibroma MESH:D005350 DOID:0050871 A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue. url:https://en.wikipedia.org/wiki/Fibroma A lung large cell carcinoma that derives_from neuroendocrine cells. lschriml 2014-06-25T05:17:11Z ICDO:8013/3 disease_ontology DOID:0050872 large cell neuroendocrine carcinoma DOID:0050872 A lung large cell carcinoma that derives_from neuroendocrine cells. url:https://www.ncbi.nlm.nih.gov/pubmed/15999058 A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). lschriml 2014-06-25T05:24:10Z GARD:2356 ICDO:9690/3 MESH:D008224 MIM:151430 disease_ontology DOID:0050873 follicular lymphoma DOID:0050873 A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). url:http://en.wikipedia.org/wiki/Follicular_lymphoma url:http://www.cancer.gov/dictionary?CdrID=428287 lschriml 2014-06-25T05:31:24Z disease_ontology DOID:0050875 obsolete small cell neuroendocrine carcinoma of the lung true DOID:0050875 A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. lschriml 2014-07-09T01:28:09Z GARD:6002 MESH:D016767 NCI:C84619 SNOMEDCT_US_2023_03_01:717232005 UMLS_CUI:C0162510 disease_ontology DOID:0050876 Caroli disease DOID:0050876 A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. url:http://en.wikipedia.org/wiki/Caroli_disease url:http://www.medindex.am/glossary/mesh/defini.php?action=search&type=cui&word=C0162510 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. lschriml 2014-07-09T03:35:41Z GARD:4203 MIM:PS260370 ORDO:2805 Agenesis of the dorsal pancreas partial pancreatic agenesis disease_ontology DOID:0050877 pancreatic agenesis DOID:0050877 A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf lschriml 2014-07-29T01:17:13Z Factor I deficiency Fibrinogen deficiency disease_ontology DOID:0050878 OMIM mapping confirmed by DO. [SN]. obsolete CLONE OF congenital afibrinogenemia true DOID:0050878 A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. lschriml 2014-08-04T01:52:12Z MIM:300623 FXTAS syndrome disease_ontology DOID:0050879 fragile X-associated tremor/ataxia syndrome DOID:0050879 A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. url:http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome url:http://omim.org/entry/300623 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256 url:https://www.ncbi.nlm.nih.gov/pubmed/18195136 A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. lschriml 2014-08-06T12:57:12Z DOID:0070076 GARD:10727 MIM:610443 ORDO:96169 17q21.31 microdeletion syndrome KANSL1-related intellectual disability syndrome KdVS Koolen-De Vries syndrome disease_ontology DOID:0050880 Koolen de Vries syndrome DOID:0050880 A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. url:http://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome url:http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome url:http://omim.org/entry/610443 url:http://www.17q21.com/en/ url:http://www.ncbi.nlm.nih.gov/books/NBK24676/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169 url:https://www.ncbi.nlm.nih.gov/pubmed/19447831 url:https://www.ncbi.nlm.nih.gov/pubmed/22544363 url:https://www.ncbi.nlm.nih.gov/pubmed/22544367 KdVS A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein. lschriml 2014-08-06T02:30:16Z MESH:C563476 MIM:PS167320 ORDO:52430 IBMPFD inclusion body myopathy with Paget's disease of bone and frontotemporal dementia disease_ontology DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia DOID:0050881 A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein. url:http://omim.org/entry/167320 url:https://www.ncbi.nlm.nih.gov/pubmed/19380227 url:https://www.ncbi.nlm.nih.gov/pubmed/21304887 url:https://www.ncbi.nlm.nih.gov/pubmed/21892620 IBMPFD An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene. lschriml 2014-08-06T03:51:03Z GARD:4953 MIM:600224 disease_ontology DOID:0050882 spinocerebellar ataxia type 5 DOID:0050882 An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene. url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766 url:https://www.ncbi.nlm.nih.gov/pubmed/20368622 A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. lschriml 2014-08-06T04:09:42Z GARD:13264 MIM:614559 disease_ontology DOID:0050883 infantile cerebellar-retinal degeneration DOID:0050883 A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. url:http://omim.org/entry/614559 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 url:http://www.uniprot.org/diseases/DI-03409 url:https://www.ncbi.nlm.nih.gov/pubmed/22405087 url:https://www.ncbi.nlm.nih.gov/pubmed/23438437 A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. lschriml 2014-08-07T11:44:31Z GARD:5287 MESH:C566029 MIM:615512 Triose phosphate-isomerase deficiency disease_ontology DOID:0050884 triosephosphate isomerase deficiency DOID:0050884 A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. url:http://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency url:http://omim.org/entry/615512 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport url:https://www.ncbi.nlm.nih.gov/pubmed/16980388 url:https://www.ncbi.nlm.nih.gov/pubmed/17424909 url:https://www.ncbi.nlm.nih.gov/pubmed/23318931 A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene. lschriml 2014-08-07T12:04:30Z GARD:12312 MIM:614732 intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities disease_ontology DOID:0050885 IMAGe syndrome DOID:0050885 A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene. url:http://omim.org/entry/614732 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173 url:https://www.ncbi.nlm.nih.gov/pubmed/14760276 url:https://www.ncbi.nlm.nih.gov/pubmed/22634751 url:https://www.ncbi.nlm.nih.gov/pubmed/23719190 url:https://www.ncbi.nlm.nih.gov/pubmed/24065356 A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. lschriml 2014-08-07T12:18:56Z GARD:5372 ICD10CM:G11.4 MIM:275900 ORDO:101000 SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20 disease_ontology DOID:0050886 Troyer syndrome DOID:0050886 A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. url:http://en.wikipedia.org/wiki/SPG20 url:http://ghr.nlm.nih.gov/condition/troyer-syndrome url:http://ghr.nlm.nih.gov/gene/SPG20 url:http://omim.org/entry/275900 url:http://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple url:https://www.ncbi.nlm.nih.gov/pubmed/20301556 SPG20 A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. lschriml 2014-08-11T03:58:35Z GARD:7784 MESH:C536974 MIM:107480 disease_ontology DOID:0050887 Townes-Brocks syndrome DOID:0050887 A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. url:http://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome url:http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome url:http://www.omim.org/entry/107480 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple url:https://www.ncbi.nlm.nih.gov/pubmed/12925729 An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. lschriml 2014-08-14T10:55:32Z disease_ontology DOID:0050888 syndromic intellectual disability DOID:0050888 An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. url:http://en.wikipedia.org/wiki/Intellectual_disability An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. lschriml 2014-08-14T10:57:36Z disease_ontology DOID:0050889 non-syndromic intellectual disability DOID:0050889 An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. url:http://en.wikipedia.org/wiki/Intellectual_disability url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/ A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. lschriml 2014-08-14T03:29:17Z Synucleinopathies alpha Synucleinopathies disease_ontology DOID:0050890 synucleinopathy DOID:0050890 A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. url:http://en.wikipedia.org/wiki/Synucleinopathies An adrenal adenoma that is a benign tumor of the adrenal cortex. lschriml 2014-09-04T01:54:59Z ICDO:8370/0 adrenocortical adenoma disease_ontology DOID:0050891 adrenal cortical adenoma DOID:0050891 An adrenal adenoma that is a benign tumor of the adrenal cortex. url:http://en.wikipedia.org/wiki/Adrenocortical_adenoma A malignant pheochromocytoma that is characterized by overproduction of adrenaline. lschriml 2014-09-11T01:01:57Z disease_ontology DOID:0050892 adrenal gland pheochromocytoma DOID:0050892 A malignant pheochromocytoma that is characterized by overproduction of adrenaline. url:http://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma url:http://en.wikipedia.org/wiki/Pheochromocytoma url:http://www.cancer.gov/cancertopics/types/pheochromocytoma A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. lschriml 2014-09-11T01:53:07Z disease_ontology DOID:0050893 gallbladder adenoma DOID:0050893 A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. url:http://en.wikipedia.org/wiki/Adenoma A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. lschriml 2014-09-11T02:44:50Z GARD:5747 ICDO:9310/0 MESH:D000564 disease_ontology DOID:0050894 ameloblastoma MESH:D000564 DOID:0050894 A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. url:http://en.wikipedia.org/wiki/Ameloblastoma A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. lschriml 2014-09-11T02:46:51Z disease_ontology DOID:0050895 bone ameloblastoma DOID:0050895 A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. url:http://en.wikipedia.org/wiki/Ameloblastoma A bone carcinoma that derives_from squamous epithelial cells. lschriml 2014-09-11T02:50:46Z disease_ontology DOID:0050896 bone squamous cell carcinoma DOID:0050896 A bone carcinoma that derives_from squamous epithelial cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A chondrosarcoma that is located_in bone. lschriml 2014-09-11T02:55:07Z disease_ontology DOID:0050897 bone chondrosarcoma DOID:0050897 A chondrosarcoma that is located_in bone. url:http://en.wikipedia.org/wiki/Chondrosarcoma A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. lschriml 2014-09-11T03:42:42Z disease_ontology DOID:0050898 phalanx chondroma DOID:0050898 A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. url:http://en.wikipedia.org/wiki/Chondroma A brain stem cancer that begins in the lower part of the brain on the floor of the skull. lschriml 2014-10-06T14:23:29Z disease_ontology DOID:0050899 brain stem medulloblastoma DOID:0050899 A brain stem cancer that begins in the lower part of the brain on the floor of the skull. url:http://en.wikipedia.org/wiki/Medulloblastoma A spinal chordoma that is located_in the sacrum. lschriml 2014-10-06T14:25:16Z disease_ontology DOID:0050900 sacrum chordoma DOID:0050900 A spinal chordoma that is located_in the sacrum. url:http://en.wikipedia.org/wiki/Sacrum url:http://www.cancer.gov/dictionary?CdrID=45297 A brain oligodendroglioma located_in the corpus callosum. lschriml 2014-10-06T14:26:18Z disease_ontology DOID:0050901 corpus callosum oligodendroglioma DOID:0050901 A brain oligodendroglioma located_in the corpus callosum. url:http://en.wikipedia.org/wiki/Corpus_callosum url:http://en.wikipedia.org/wiki/Oligodendroglioma url:http://www.cancer.gov/dictionary?CdrID=46257 An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. lschriml 2014-10-06T14:36:37Z DOID:0060105 DOID:168 DOID:3858 DOID:4981 GARD:7005 ICDO:9470/3 MESH:D008527 MESH:D018242 MIM:155255 NCI:C27294 NCI:C3222 NCI:C3716 ORDO:616 SNOMEDCT_US_2023_03_01:189925001 SNOMEDCT_US_2023_03_01:443333004 UMLS_CUI:C0025149 UMLS_CUI:C0206663 UMLS_CUI:C1334410 CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor disease_ontology DOID:0050902 OMIM mapping confirmed by DO. [SN]. medulloblastoma DOID:0050902 An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. url:http://en.wikipedia.org/wiki/Medulloblastoma url:http://www.cancer.gov/dictionary?CdrID=45780 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306779/ CNS PNET CPNET A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. lschriml 2014-10-08T16:00:54Z disease_ontology DOID:0050903 parietal lobe ependymoma DOID:0050903 A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. url:http://www.cancer.gov/dictionary?CdrID=46432 A salivary gland cancer that has_material_basis_in epithelial cells. lschriml 2014-10-08T16:52:58Z disease_ontology DOID:0050904 salivary gland carcinoma DOID:0050904 A salivary gland cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Salivary_gland_neoplasm url:http://www.cancer.gov/dictionary?CdrID=45963 A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. lschriml 2014-10-09T14:18:08Z GARD:7146 disease_ontology DOID:0050905 inflammatory myofibroblastic tumor DOID:0050905 A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/ url:https://www.ncbi.nlm.nih.gov/pubmed/23091756 A sensory organ benign neoplasm that is located in the eye conjunctiva. lschriml 2014-10-13T11:47:25Z disease_ontology DOID:0050906 conjunctival nevus DOID:0050906 A sensory organ benign neoplasm that is located in the eye conjunctiva. url:http://en.wikipedia.org/wiki/Conjunctiva url:http://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. lschriml 2014-10-13T12:37:37Z disease_ontology DOID:0050907 mixed extragonadal germ cell cancer DOID:0050907 A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed url:http://www.cancer.gov/dictionary?CdrID=444993 A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. lschriml 2014-10-13T12:51:33Z GARD:7132 ICDO:9989/3 MESH:D009190 MIM:614286 UMLS_CUI:C2713368 disease_ontology DOID:0050908 myelodysplastic syndrome DOID:0050908 A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. url:http://en.wikipedia.org/wiki/Myelodysplastic_syndrome url:http://www.cancer.gov/dictionary?CdrID=45266 A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production. lschriml 2014-10-13T14:17:40Z ICDO:9699/3 MIM:137245 NCI:C3898 MALT lymphoma MALT lymphoma of the dura mucosa-associated lymphoid tissue lymphoma disease_ontology DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue DOID:0050909 A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production. url:http://www.cancer.gov/dictionary?CdrID=45774 url:http://www.cancerresearchuk.org/about-cancer/non-hodgkin-lymphoma/types/malt A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. lschriml 2014-10-13T14:41:01Z caecum adenoma disease_ontology DOID:0050910 cecum adenoma DOID:0050910 A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Adenoma An appendix cancer that has_material_basis_in neurodendocrine cells. lschriml 2014-10-13T14:45:41Z appendix carcinoid endocrine tumour disease_ontology DOID:0050911 appendix carcinoid tumor DOID:0050911 An appendix cancer that has_material_basis_in neurodendocrine cells. url:http://en.wikipedia.org/wiki/Carcinoid url:http://www.cancer.gov/dictionary?CdrID=44233 A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. lschriml 2014-10-13T14:56:27Z disease_ontology DOID:0050912 colon adenoma DOID:0050912 A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Colorectal_adenoma url:http://www.cancer.gov/dictionary?CdrID=46217 A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. lschriml 2014-10-13T15:00:10Z disease_ontology DOID:0050913 large intestine adenocarcinoma DOID:0050913 A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. url:http://www.cancer.gov/dictionary?CdrID=46216 An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. lschriml 2014-10-13T15:07:10Z disease_ontology DOID:0050914 large intestine adenoma DOID:0050914 An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. url:http://en.wikipedia.org/wiki/Adenoma An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. lschriml 2014-10-13T15:09:51Z NCI:C5546 rectum adenoma disease_ontology DOID:0050915 rectal adenoma DOID:0050915 An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Adenoma A mucoepidermoid carcinoma located_in the bronchus. lschriml 2014-10-13T15:13:54Z disease_ontology DOID:0050916 bronchus mucoepidermoid carcinoma DOID:0050916 A mucoepidermoid carcinoma located_in the bronchus. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. lschriml 2014-10-13T15:36:11Z disease_ontology DOID:0050917 lung combined type small cell adenocarcinoma DOID:0050917 A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. url:http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma url:http://www.cancer.gov/dictionary?CdrID=45327 url:http://www.cancer.gov/dictionary?CdrID=46216 A vaginal cancer that has_material_basis_in epithelial cells. lschriml 2014-10-21T11:37:19Z disease_ontology DOID:0050918 vaginal carcinoma DOID:0050918 A vaginal cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A mucoepidermoid carcinoma located_in the trachea. lschriml 2014-10-21T11:42:42Z disease_ontology DOID:0050919 trachea mucoepidermoid carcinoma DOID:0050919 A mucoepidermoid carcinoma located_in the trachea. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma A tonsil cancer that has_material_basis_in squamous cells. lschriml 2014-10-21T11:48:00Z disease_ontology DOID:0050920 tonsil squamous cell carcinoma DOID:0050920 A tonsil cancer that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A pharynx cancer that has_material_basis_in squamous cells. lschriml 2014-10-21T11:54:00Z disease_ontology DOID:0050921 pharynx squamous cell carcinoma DOID:0050921 A pharynx cancer that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A gastrointestinal system cancer that has_material_basis_in epithelial cells. lschriml 2014-10-21T11:56:36Z disease_ontology DOID:0050922 gastrointestinal carcinoma DOID:0050922 A gastrointestinal system cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands. lschriml 2014-10-21T12:26:31Z SETTLE tumor SETTLE tumour spindle epithelial tumour with thymus-like differentiation tumour disease_ontology DOID:0050923 spindle epithelial tumor with thymus-like differentiation tumor DOID:0050923 A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands. url:http://www.pathologyoutlines.com/topic/thyroidsettle.html url:http://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext url:https://www.ncbi.nlm.nih.gov/pubmed/19417583 url:https://www.ncbi.nlm.nih.gov/pubmed/2050369 A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm. lschriml 2014-10-21T12:38:23Z disease_ontology DOID:0050924 striated muscle rhabdoid tumor DOID:0050924 A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm. url:http://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour url:http://www.cancer.gov/dictionary?CdrID=46139 A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine. lschriml 2014-10-21T12:58:08Z intestinal carcinoid tumour MIM:114900 disease_ontology DOID:0050925 small intestine carcinoid neuroendocrine tumor DOID:0050925 A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine. url:http://en.wikipedia.org/wiki/Carcinoid A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. lschriml 2014-10-21T13:00:15Z disease_ontology DOID:0050926 jejunal adenocarcinoma DOID:0050926 A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. lschriml 2014-10-21T13:02:15Z disease_ontology DOID:0050927 duodenum adenoma DOID:0050927 A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Adenoma An ovarian cancer that has_material_basis_in melanoctyes. lschriml 2014-10-21T13:27:44Z disease_ontology DOID:0050928 ovarian melanoma DOID:0050928 An ovarian cancer that has_material_basis_in melanoctyes. url:http://en.wikipedia.org/wiki/Melanoma url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/ url:https://www.ncbi.nlm.nih.gov/pubmed/15166669 A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. lschriml 2014-10-21T13:51:49Z disease_ontology DOID:0050929 mucosal melanoma DOID:0050929 A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. lschriml 2014-10-21T14:04:40Z disease_ontology DOID:0050930 sublingual gland adenoid cystic carcinoma DOID:0050930 A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. lschriml 2014-10-21T14:09:29Z disease_ontology DOID:0050931 parotid gland adenoid cystic carcinoma DOID:0050931 A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma url:http://en.wikipedia.org/wiki/Parotid_gland A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells. lschriml 2014-10-21T15:13:36Z disease_ontology DOID:0050932 lung mucoepidermoid carcinoma DOID:0050932 A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. lschriml 2014-10-21T15:51:41Z disease_ontology DOID:0050933 ovarian serous carcinoma DOID:0050933 An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. url:http://en.wikipedia.org/wiki/Serous_carcinoma An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. lschriml 2014-10-21T15:54:52Z clear-cell ovarian carcinoma disease_ontology DOID:0050934 ovarian clear cell carcinoma DOID:0050934 An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. url:http://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma An extracranial neuroblastoma that has_material_basis_in immature nerve cells. lschriml 2014-10-21T16:02:01Z disease_ontology DOID:0050935 cervical neuroblastoma DOID:0050935 An extracranial neuroblastoma that has_material_basis_in immature nerve cells. url:http://en.wikipedia.org/wiki/Neuroblastoma url:http://link.springer.com/article/10.1007%2Fs12070-007-0083-5 url:http://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487 url:https://www.ncbi.nlm.nih.gov/pubmed/15390353 url:https://www.ncbi.nlm.nih.gov/pubmed/9262064 A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. lschriml 2014-10-22T10:25:45Z disease_ontology DOID:0050936 extra-adrenal pheochromocytoma DOID:0050936 A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. url:http://en.wikipedia.org/wiki/Pheochromocytoma A retroperitoneal cancer that has_material_basis_in immature nerve cells. lschriml 2014-10-22T11:18:01Z disease_ontology DOID:0050937 retroperitoneal neuroblastoma DOID:0050937 A retroperitoneal cancer that has_material_basis_in immature nerve cells. url:http://en.wikipedia.org/wiki/Neuroblastoma url:http://en.wiktionary.org/wiki/retroperitoneal A breast carcinoma that derives_from breast lobules (milk glands). lschriml 2014-10-22T13:05:34Z ICDO:8520/3 NCI:C3771 disease_ontology DOID:0050938 breast lobular carcinoma DOID:0050938 A breast carcinoma that derives_from breast lobules (milk glands). url:http://cancergenome.nih.gov/cancersselected/breastlobular url:http://www.cancer.gov/dictionary?CdrID=426416 A uterine corpus cancer that is derives_from the inner lining of the uterus. lschriml 2014-10-22T14:26:22Z disease_ontology DOID:0050939 uterine corpus endometrial carcinoma DOID:0050939 A uterine corpus cancer that is derives_from the inner lining of the uterus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5165063/ An endocervical carcinoma that derives_from epithelial cells of glandular origin. lschriml 2014-10-24T15:51:48Z disease_ontology DOID:0050940 endocervical adenocarcinoma DOID:0050940 An endocervical carcinoma that derives_from epithelial cells of glandular origin. url:https://www.ncbi.nlm.nih.gov/pubmed/12207781 A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13. lschriml 2015-09-18T14:13:49Z MIM:611302 disease_ontology DOID:0050941 spastic ataxia 2 DOID:0050941 A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/17273843 A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33. lschriml 2015-09-18T14:13:49Z MIM:611390 disease_ontology DOID:0050942 spastic ataxia 3 DOID:0050942 A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33. url:https://www.ncbi.nlm.nih.gov/pubmed/22448145 A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11. lschriml 2015-09-18T14:13:49Z MIM:613672 disease_ontology DOID:0050943 spastic ataxia 4 DOID:0050943 A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11. url:https://www.ncbi.nlm.nih.gov/pubmed/20970105 A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11. lschriml 2015-09-18T14:13:49Z MIM:614487 disease_ontology DOID:0050944 spastic ataxia 5 DOID:0050944 A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11. url:https://www.ncbi.nlm.nih.gov/pubmed/22022284 A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs. lschriml 2015-09-18T14:13:49Z MIM:108650 disease_ontology DOID:0050945 spastic ataxia 7 DOID:0050945 A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs. url:https://www.ncbi.nlm.nih.gov/pubmed/6821680 An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12. lschriml 2015-09-18T14:13:49Z GARD:4910 MESH:C536787 MIM:270550 disease_ontology DOID:0050946 Charlevoix-Saguenay spastic ataxia DOID:0050946 An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12. url:https://www.ncbi.nlm.nih.gov/pubmed/24384335 url:https://www.ncbi.nlm.nih.gov/pubmed/26344561 url:https://www.omim.org/entry/270550 A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. lschriml 2015-10-01T12:10:26Z MIM:241530 disease_ontology DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria DOID:0050947 A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. url:http://www.omim.org/entry/241530?search=241530&highlight=241530 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=17137&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&title=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&search=Disease_Search_Simple A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. lschriml 2015-10-01T12:10:30Z MIM:193100 disease_ontology DOID:0050948 autosomal dominant hypophosphatemic rickets DOID:0050948 A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. url:http://www.omim.org/entry/193100?search=193100&highlight=193100 url:https://www.ncbi.nlm.nih.gov/pubmed/26365554 A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. lschriml 2015-10-01T12:10:33Z MIM:241520 MIM:613312 ORDO:289176 disease_ontology DOID:0050949 autosomal recessive hypophosphatemic rickets DOID:0050949 A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. url:http://www.omim.org/entry/241520?search=241520&highlight=241520 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance. lschriml 2015-10-05T14:21:08Z MIM:PS213200 ORDO:1172 disease_ontology DOID:0050950 autosomal recessive cerebellar ataxia DOID:0050950 A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance. url:http://www.ncbi.nlm.nih.gov/books/NBK1138/ A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. lschriml 2015-10-05T14:38:17Z GARD:6614 disease_ontology DOID:0050951 hereditary ataxia DOID:0050951 A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. url:http://www.ncbi.nlm.nih.gov/books/NBK1138 A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy. lschriml 2015-10-05T14:39:34Z MESH:C564815 disease_ontology DOID:0050952 spastic ataxia DOID:0050952 A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy. url:https://www.ncbi.nlm.nih.gov/pubmed/24384335 url:https://www.ncbi.nlm.nih.gov/pubmed/26344561 A hereditary ataxia that is characterized by X-linked inheritance. lschriml 2015-10-05T15:41:09Z disease_ontology DOID:0050953 X-linked hereditary ataxia DOID:0050953 A hereditary ataxia that is characterized by X-linked inheritance. url:https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/ An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22. lschriml 2015-10-05T16:07:27Z GARD:4071 MIM:164400 disease_ontology DOID:0050954 spinocerebellar ataxia type 1 DOID:0050954 An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22. url:https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1 An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene. lschriml 2015-10-05T16:07:27Z MIM:183090 disease_ontology DOID:0050955 spinocerebellar ataxia type 2 DOID:0050955 An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene. url:https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene. lschriml 2015-10-05T16:07:27Z GARD:10351 MIM:183086 disease_ontology DOID:0050956 spinocerebellar ataxia type 6 DOID:0050956 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene. url:https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy that has_material_basis_in heterozygous trinucleotide repeat expansion (GGCn) in the ZFHX3 gene on chromosome 16q22. lschriml 2015-10-05T16:07:27Z GARD:9970 MIM:600223 ORDO:98765 SNOMEDCT_US_2023_03_01:715755008 UMLS_CUI:C0752122 SCA4 disease_ontology DOID:0050957 spinocerebellar ataxia type 4 GARD:9970 MIM:600223 ORDO:98765 UMLS_CUI:C0752122 DOID:0050957 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy that has_material_basis_in heterozygous trinucleotide repeat expansion (GGCn) in the ZFHX3 gene on chromosome 16q22. url:https://pubmed.ncbi.nlm.nih.gov/38035881/ url:https://rarediseases.info.nih.gov/diseases/9970/spinocerebellar-ataxia-4 SCA4 An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene. lschriml 2015-10-05T16:07:27Z MIM:164500 disease_ontology DOID:0050958 spinocerebellar ataxia type 7 DOID:0050958 An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene. url:https://rarediseases.info.nih.gov/diseases/4955/spinocerebellar-ataxia-7 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene. lschriml 2015-10-05T16:12:39Z MIM:608768 disease_ontology DOID:0050959 spinocerebellar ataxia type 8 DOID:0050959 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene. url:https://rarediseases.info.nih.gov/diseases/4956/spinocerebellar-ataxia-8 An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene. lschriml 2015-10-05T16:12:39Z GARD:10474 MIM:603516 disease_ontology DOID:0050960 spinocerebellar ataxia type 10 DOID:0050960 An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene. url:https://www.ncbi.nlm.nih.gov/books/NBK1175/ An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abnormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene. lschriml 2015-10-05T16:12:39Z MIM:604432 disease_ontology DOID:0050961 spinocerebellar ataxia type 11 DOID:0050961 An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abnormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene. url:https://rarediseases.info.nih.gov/diseases/10475/spinocerebellar-ataxia-11 An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene. lschriml 2015-10-05T16:12:39Z MIM:604326 disease_ontology DOID:0050962 spinocerebellar ataxia type 12 DOID:0050962 An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene. url:https://rarediseases.info.nih.gov/diseases/10476/spinocerebellar-ataxia-12 An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene. lschriml 2015-10-05T16:12:39Z MIM:605259 disease_ontology DOID:0050963 spinocerebellar ataxia type 13 DOID:0050963 An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene. url:https://rarediseases.info.nih.gov/diseases/9611/spinocerebellar-ataxia-13 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene. lschriml 2015-10-05T16:12:39Z MIM:605361 disease_ontology DOID:0050964 spinocerebellar ataxia type 14 DOID:0050964 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene. url:https://rarediseases.info.nih.gov/diseases/9867/spinocerebellar-ataxia-14 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene. lschriml 2015-10-05T16:12:39Z DOID:0050966 MIM:606658 spinocerebellar ataxia type 16 disease_ontology DOID:0050965 spinocerebellar ataxia type 15 DOID:0050965 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene. url:https://rarediseases.info.nih.gov/diseases/10477/spinocerebellar-ataxia-15 An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia, dysarthria, nystagmus, peripheral neuropathy and limb spasticity, has_material_basis_in mutation in the STUB1 gene. lschriml 2015-10-05T16:12:39Z disease_ontology DOID:0050966 obsolete spinocerebellar ataxia type 16 true DOID:0050966 An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia, dysarthria, nystagmus, peripheral neuropathy and limb spasticity, has_material_basis_in mutation in the STUB1 gene. url:https://www.omim.org/entry/615768 An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene. lschriml 2015-10-05T16:12:39Z GARD:10469 MIM:607136 disease_ontology DOID:0050967 spinocerebellar ataxia type 17 DOID:0050967 An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene. url:https://rarediseases.info.nih.gov/diseases/10469/spinocerebellar-ataxia-17 An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene. lschriml 2015-10-05T16:12:39Z GARD:12372 MIM:604121 disease_ontology DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy DOID:0050968 An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene. url:https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23. lschriml 2015-10-06T16:11:07Z GARD:9976 MIM:607458 disease_ontology DOID:0050969 spinocerebellar ataxia type 18 DOID:0050969 An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23. url:https://rarediseases.info.nih.gov/diseases/9976/spinocerebellar-ataxia-18 An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor. lschriml 2015-10-06T16:11:07Z GARD:12365 MIM:607346 disease_ontology DOID:0050970 spinocerebellar ataxia type 19/22 DOID:0050970 An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor. url:https://rarediseases.info.nih.gov/diseases/12365/spinocerebellar-ataxia-19-and-22 An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria. lschriml 2015-10-06T16:11:07Z GARD:9997 MIM:608687 disease_ontology DOID:0050971 spinocerebellar ataxia type 20 DOID:0050971 An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria. url:https://rarediseases.info.nih.gov/diseases/9997/spinocerebellar-ataxia-20 An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity. lschriml 2015-10-06T16:11:07Z GARD:9999 MIM:607454 disease_ontology DOID:0050972 spinocerebellar ataxia type 21 DOID:0050972 An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity. url:https://rarediseases.info.nih.gov/diseases/9999/spinocerebellar-ataxia-21 An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene. lschriml 2015-10-06T16:11:07Z MIM:610245 disease_ontology DOID:0050973 spinocerebellar ataxia type 23 DOID:0050973 An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene. url:https://rarediseases.info.nih.gov/diseases/9950/spinocerebellar-ataxia-23 An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21. lschriml 2015-10-06T16:11:07Z GARD:9996 MESH:C537202 MIM:608703 disease_ontology DOID:0050974 spinocerebellar ataxia type 25 DOID:0050974 An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21. url:https://rarediseases.info.nih.gov/diseases/9996/spinocerebellar-ataxia-25 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene. lschriml 2015-10-06T16:11:07Z GARD:9995 MESH:C537203 MIM:609306 disease_ontology DOID:0050975 spinocerebellar ataxia type 26 DOID:0050975 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene. url:https://rarediseases.info.nih.gov/diseases/9995/spinocerebellar-ataxia-26 An autosomal dominant cerebellar ataxia that is characterized by general cerebellar dysfunction manifest as gait disturbances, ataxia, tremor, dysarthria, and gaze-evoked nystagmus and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome. lschriml 2015-10-06T16:11:07Z DOID:0111794 GARD:9603 MIM:193003 SCA27A autosomal dominant congenital nystagmus 4 congenital nystagmus 4 spinocerebellar ataxia type 27 vestibulocerebellar disorder with predominant ocular signs disease_ontology DOID:0050976 spinocerebellar ataxia type 27A DOID:0050976 An autosomal dominant cerebellar ataxia that is characterized by general cerebellar dysfunction manifest as gait disturbances, ataxia, tremor, dysarthria, and gaze-evoked nystagmus and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome. url:https://pubmed.ncbi.nlm.nih.gov/32162847/ SCA27A An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene. lschriml 2015-10-06T16:11:07Z MIM:610246 disease_ontology DOID:0050977 spinocerebellar ataxia type 28 DOID:0050977 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene. url:https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene. lschriml 2015-10-06T16:11:07Z MIM:117360 disease_ontology DOID:0050978 spinocerebellar ataxia type 29 DOID:0050978 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene. url:https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene. lschriml 2015-10-06T16:11:07Z GARD:4950 MIM:613371 disease_ontology DOID:0050979 spinocerebellar ataxia type 30 DOID:0050979 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene. url:https://www.omim.org/entry/613371 An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene. lschriml 2015-10-06T16:11:07Z MIM:117210 disease_ontology DOID:0050980 spinocerebellar ataxia type 31 DOID:0050980 An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene. url:https://rarediseases.info.nih.gov/diseases/9975/spinocerebellar-ataxia-31 An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene. lschriml 2015-10-06T16:11:07Z MIM:133190 disease_ontology DOID:0050981 spinocerebellar ataxia type 34 DOID:0050981 An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene. url:https://rarediseases.info.nih.gov/diseases/59/spinocerebellar-ataxia-34 An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene. lschriml 2015-10-06T16:11:07Z MIM:613908 disease_ontology DOID:0050982 spinocerebellar ataxia type 35 DOID:0050982 An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene. url:https://www.omim.org/entry/613908 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene. lschriml 2015-10-06T16:11:07Z MIM:614153 disease_ontology DOID:0050983 spinocerebellar ataxia type 36 DOID:0050983 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene. url:https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-36 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene. lschriml 2015-10-06T16:11:07Z MIM:615945 disease_ontology DOID:0050984 spinocerebellar ataxia type 37 DOID:0050984 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene. url:https://www.omim.org/entry/615945 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene. lschriml 2015-10-06T16:11:07Z MIM:615957 disease_ontology DOID:0050985 spinocerebellar ataxia type 38 DOID:0050985 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene. url:https://www.omim.org/entry/615957 An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene. lschriml 2015-10-06T16:11:07Z MIM:616053 disease_ontology DOID:0050986 spinocerebellar ataxia type 40 DOID:0050986 An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene. url:https://www.omim.org/entry/616053 An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities. lschriml 2015-10-06T16:24:06Z disease_ontology DOID:0050987 hypomyelinating leukoencephalopathy DOID:0050987 An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities. url:https://www.ncbi.nlm.nih.gov/pubmed/22232354 An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss. lschriml 2015-10-06T16:24:06Z disease_ontology DOID:0050988 GRID2-related spinocerebellar ataxia DOID:0050988 An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss. url:https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/ An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1. lschriml 2015-10-06T16:26:26Z MIM:160120 disease_ontology DOID:0050989 episodic ataxia type 1 DOID:0050989 An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1. url:https://www.omim.org/entry/160120 An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. lschriml 2015-10-06T16:26:26Z MESH:C535506 MIM:108500 disease_ontology DOID:0050990 episodic ataxia type 2 DOID:0050990 An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. url:https://www.omim.org/entry/108500 An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance. lschriml 2015-10-06T16:26:26Z MIM:606554 disease_ontology DOID:0050991 episodic ataxia type 3 DOID:0050991 An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance. url:https://www.omim.org/entry/606554 An episodic ataxia that is characterized by vertigo and diplopia. lschriml 2015-10-06T16:26:26Z MIM:606552 disease_ontology DOID:0050992 episodic ataxia type 4 DOID:0050992 An episodic ataxia that is characterized by vertigo and diplopia. url:https://www.omim.org/entry/606552 An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene. lschriml 2015-10-06T16:26:26Z MIM:613855 disease_ontology DOID:0050993 episodic ataxia type 5 DOID:0050993 An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene. url:https://www.omim.org/entry/613855 An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene. lschriml 2015-10-06T16:26:26Z MIM:612656 disease_ontology DOID:0050994 episodic ataxia type 6 DOID:0050994 An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene. url:https://www.omim.org/entry/612656 An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance. lschriml 2015-10-06T16:26:26Z MIM:611907 disease_ontology DOID:0050995 episodic ataxia type 7 DOID:0050995 An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance. url:https://www.omim.org/entry/611907 An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the UBR4 gene. lschriml 2015-10-07T13:38:56Z MIM:616055 disease_ontology DOID:0050996 episodic ataxia type 8 DOID:0050996 An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the UBR4 gene. url:https://www.omim.org/entry/616055 A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. lschriml 2015-10-07T13:48:09Z GARD:1998 MESH:C535731 MIM:PS224050 ORDO:1766 UMLS_CUI:C0394006 CAMRQ CAMRQ syndrome DES UTS Uner Tan syndrome cerebellar ataxia and mental retardation with or without quadrupedal locomotion cerebellar ataxia, mental retardation, and disequilibrium syndrome cerebellar ataxia, mental retardation, and dysequilibrium syndrome disease_ontology disequilibrium syndrome dysequilibrium syndrome DOID:0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome GARD:1998 MESH:C535731 MIM:PS224050 ORDO:1766 UMLS_CUI:C0394006 DOID:0050997 A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. url:https://pubmed.ncbi.nlm.nih.gov/21885617/ url:https://pubmed.ncbi.nlm.nih.gov/28013290/ url:https://pubmed.ncbi.nlm.nih.gov/33981800/ url:https://pubmed.ncbi.nlm.nih.gov/38109455/ url:https://pubmed.ncbi.nlm.nih.gov/38581205/ CAMRQ DES UTS An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene. lschriml 2015-10-07T14:08:24Z MIM:614756 disease_ontology DOID:0050998 nonprogressive cerebellar ataxia with mental retardation DOID:0050998 An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene. url:https://www.omim.org/entry/614756 An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene. lschriml 2015-10-07T14:43:23Z MIM:613728 SCAR10 disease_ontology DOID:0050999 autosomal recessive spinocerebellar ataxia 10 DOID:0050999 An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene. url:https://www.omim.org/entry/613728 SCAR10 A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation. disease_ontology DOID:0051000 autoinflammatory disease DOID:0051000 A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation. url:https://www.autoimmuneinstitute.org/articles/autoimmune-vs-autoinflammatory-disease/ A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13. MIM:619789 disease_ontology DOID:0051001 congenital dyserythropoietic anemia type IIIb DOID:0051001 A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/36200420/ A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13. MIM:620969 disease_ontology DOID:0051002 congenital dyserythropoietic anemia type IVb DOID:0051002 A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13. url:https://pubmed.ncbi.nlm.nih.gov/25724378/ A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia. MIM:300908 disease_ontology DOID:0051003 congenital nonspherocytic hemolytic anemia 1 DOID:0051003 A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia. url:https://pubmed.ncbi.nlm.nih.gov/18177777/ disease_ontology url:https://pubmed.ncbi.nlm.nih.gov/18177777/ A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34. MIM:612631 disease_ontology DOID:0051004 congenital nonspherocytic hemolytic anemia 3 DOID:0051004 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/10233365/ A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13. MIM:613470 disease_ontology DOID:0051005 congenital nonspherocytic hemolytic anemia 4 DOID:0051005 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/8218542/ A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22. MIM:235700 disease_ontology DOID:0051006 congenital nonspherocytic hemolytic anemia 5 DOID:0051006 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22. url:https://pubmed.ncbi.nlm.nih.gov/12393545/ A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14. MIM:266120 disease_ontology DOID:0051007 congenital nonspherocytic hemolytic anemia 8 DOID:0051007 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14. url:https://pubmed.ncbi.nlm.nih.gov/11369620/ A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11. MIM:301083 disease_ontology DOID:0051008 congenital nonspherocytic hemolytic anemia 9 DOID:0051008 A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11. url:https://pubmed.ncbi.nlm.nih.gov/35030251/ A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GSR gene on chromosome 8p21. MIM:618660 disease_ontology DOID:0051009 congenital nonspherocytic hemolytic anemia 10 DOID:0051009 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GSR gene on chromosome 8p21. url:https://pubmed.ncbi.nlm.nih.gov/17185460/ An autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities. MIM:PS619720 disease_ontology DOID:0051010 Bryant-Li-Bhoj neurodevelopmental syndrome DOID:0051010 An autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities. url:https://www.ncbi.nlm.nih.gov/books/NBK595206/ A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42. MIM:619720 disease_ontology DOID:0051011 Bryant-Li-Bhoj neurodevelopmental syndrome 1 DOID:0051011 A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42. url:https://pubmed.ncbi.nlm.nih.gov/38678163/ url:https://www.ncbi.nlm.nih.gov/books/NBK595206/ A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones nd that has_material_basis_in heterozygous mutation in the H3F3B gene on chromosome 17q25. MIM:619721 disease_ontology DOID:0051012 Bryant-Li-Bhoj neurodevelopmental syndrome 2 DOID:0051012 A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones nd that has_material_basis_in heterozygous mutation in the H3F3B gene on chromosome 17q25. url:https://pubmed.ncbi.nlm.nih.gov/38678163/ url:https://www.ncbi.nlm.nih.gov/books/NBK595206/ A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13. GARD:10681 MIM:612462 ORDO:79444 PHP Ic disease_ontology DOID:0051013 PHP Ic appears to differ from PHP Ia (DOID:0080053) only in that patients retain erythrocyte Gs activity. pseudohypoparathyroidism type 1C DOID:0051013 A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13. url:https://pubmed.ncbi.nlm.nih.gov/18372789/ PHP Ic An adult onset demyelinating leukodystrophy that is characterized by pyramidal signs with weakness and spasticity, dysarthria, dysautonomia, and white matter alterations affecting the cerebrum and corticospinal tracts while sparing the cerebellum and that has_material_basis_in heterozygous deletion involving regulatory elements upstream of the LMNB1 gene on chromosome 5q23. Atypical ADLD can be distinguished from typical ADLD by lack of early involvement of the autonomic nervous system and sparing of the cerebellum clinically and on brain imaging. MIM:621061 disease_ontology DOID:0051014 atypical autosomal dominant adult-onset demyelinating leukodystrophy DOID:0051014 An adult onset demyelinating leukodystrophy that is characterized by pyramidal signs with weakness and spasticity, dysarthria, dysautonomia, and white matter alterations affecting the cerebrum and corticospinal tracts while sparing the cerebellum and that has_material_basis_in heterozygous deletion involving regulatory elements upstream of the LMNB1 gene on chromosome 5q23. Atypical ADLD can be distinguished from typical ADLD by lack of early involvement of the autonomic nervous system and sparing of the cerebellum clinically and on brain imaging. url:https://pubmed.ncbi.nlm.nih.gov/39078102/ A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. MIM:PS169500 ORDO:99027 Autosomal dominant leukodystrophy with autonomic disease autosomal dominant adult-onset demyelinating leukodystrophy disease_ontology DOID:0051015 adult onset demyelinating leukodystrophy DOID:0051015 A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. url:https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease/ A visceral heterotaxy that is characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach and that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26. MIM:306955 disease_ontology DOID:0051016 visceral heterotaxy 1 DOID:0051016 A visceral heterotaxy that is characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach and that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26. url:https://pubmed.ncbi.nlm.nih.gov/18456715/ A visceral heterotaxy that has_material_basis_in heterozygous mutation in the CFC1 gene on chromosome 2q21. MIM:605376 disease_ontology DOID:0051017 visceral heterotaxy 2 DOID:0051017 A visceral heterotaxy that has_material_basis_in heterozygous mutation in the CFC1 gene on chromosome 2q21. url:https://pubmed.ncbi.nlm.nih.gov/11062482/ A visceral heterotaxy that has been mapped to chromosome 6q21. MIM:606325 disease_ontology DOID:0051018 visceral heterotaxy 3 DOID:0051018 A visceral heterotaxy that has been mapped to chromosome 6q21. url:https://pubmed.ncbi.nlm.nih.gov/11562933/ A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22. MIM:613751 disease_ontology DOID:0051019 visceral heterotaxy 4 DOID:0051019 A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22. url:https://pubmed.ncbi.nlm.nih.gov/9916847/ A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21. MIM:614779 disease_ontology DOID:0051020 visceral heterotaxy 6 DOID:0051020 A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21. url:https://pubmed.ncbi.nlm.nih.gov/22577226/ A visceral heterotaxy that is characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the MMP21 gene on chromosome 10q26. MIM:616749 disease_ontology DOID:0051021 visceral heterotaxy 7 DOID:0051021 A visceral heterotaxy that is characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the MMP21 gene on chromosome 10q26. url:https://pubmed.ncbi.nlm.nih.gov/26437028/ A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the PKD1L1 gene on chromosome 7p12. MIM:617205 disease_ontology DOID:0051022 visceral heterotaxy 8 DOID:0051022 A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the PKD1L1 gene on chromosome 7p12. url:https://pubmed.ncbi.nlm.nih.gov/27616478/ A visceral heterotaxy that is characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia and that has_material_basis_in homozygous mutation in the MNS1 gene on chromosome 15q21. MIM:618948 disease_ontology DOID:0051023 visceral heterotaxy 9 DOID:0051023 A visceral heterotaxy that is characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia and that has_material_basis_in homozygous mutation in the MNS1 gene on chromosome 15q21. url:https://pubmed.ncbi.nlm.nih.gov/31534215/ A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 gene on chromosome 17p13. MIM:619607 disease_ontology DOID:0051024 visceral heterotaxy 10 DOID:0051024 A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 gene on chromosome 17p13. url:https://pubmed.ncbi.nlm.nih.gov/33139725/ A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23. MIM:619608 disease_ontology DOID:0051025 visceral heterotaxy 11 DOID:0051025 A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23. url:https://pubmed.ncbi.nlm.nih.gov/33139725/ A visceral heterotaxy that is characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects and that has_material_basis_in homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11. MIM:619702 disease_ontology DOID:0051026 visceral heterotaxy 12 DOID:0051026 A visceral heterotaxy that is characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects and that has_material_basis_in homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11. url:https://pubmed.ncbi.nlm.nih.gov/33139725/ A visceral heterotaxy that is characterized by heterotaxy and congenital heart disease and that has_material_basis_in homozygous mutation in the DAND5 gene on chromosome 19p13. MIM:621079 disease_ontology DOID:0051027 visceral heterotaxy 13 DOID:0051027 A visceral heterotaxy that is characterized by heterotaxy and congenital heart disease and that has_material_basis_in homozygous mutation in the DAND5 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/36316122/ A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. MIM:607706 disease_ontology DOID:0051028 autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis DOID:0051028 A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. url:https://pubmed.ncbi.nlm.nih.gov/15358725/ A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42. MIM:621071 disease_ontology DOID:0051029 mitochondrial DNA depletion syndrome-21 DOID:0051029 A mitochondrial DNA depletion syndrome that is characterized by ptosis, ophthalmoparesis, and myopathic limb weakness, as well as variable hepatopathy and altered T-lymphocyte profiles and that has_material_basis_in homozygous or compound heterozygous mutation in the GUK1 gene, which encodes guanylate kinase-1, on chromosome 1q42. url:https://pubmed.ncbi.nlm.nih.gov/39230499/ An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. MIM:621060 NEDMISH disease_ontology DOID:0051030 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia DOID:0051030 An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. url:https://pubmed.ncbi.nlm.nih.gov/39306721/ A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31. MIM:617914 disease_ontology DOID:0051031 primary autosomal recessive microcephaly 20 DOID:0051031 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KIF14 gene on chromosome 1q31. url:https://pubmed.ncbi.nlm.nih.gov/29343805/ A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13. MIM:617983 disease_ontology DOID:0051032 primary autosomal recessive microcephaly 21 DOID:0051032 A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13. url:https://pubmed.ncbi.nlm.nih.gov/35568357/ A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25. MIM:617984 disease_ontology DOID:0051033 primary autosomal recessive microcephaly 22 DOID:0051033 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the NCAPD3 gene on chromosome 11q25. url:https://pubmed.ncbi.nlm.nih.gov/27737959/ A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11. MIM:617985 disease_ontology DOID:0051034 primary autosomal recessive microcephaly 23 DOID:0051034 A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPH gene on chromosome 2q11. url:https://pubmed.ncbi.nlm.nih.gov/27737959/ A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23. MIM:618179 disease_ontology DOID:0051035 primary autosomal recessive microcephaly 24 DOID:0051035 A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23. url:https://pubmed.ncbi.nlm.nih.gov/30179222/ A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22. MIM:618351 disease_ontology DOID:0051036 primary autosomal recessive microcephaly 25 DOID:0051036 A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the MAP11 gene on chromosome 7q22. url:https://pubmed.ncbi.nlm.nih.gov/30715179/ A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23. MIM:619179 disease_ontology DOID:0051037 autosomal dominant primary microcephaly 26 DOID:0051037 A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23. url:https://pubmed.ncbi.nlm.nih.gov/32910914/ A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13. MIM:619180 disease_ontology DOID:0051038 autosomal dominant primary microcephaly 27 DOID:0051038 A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/33033404/ A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13. MIM:619453 disease_ontology DOID:0051039 primary autosomal recessive microcephaly 28 DOID:0051039 A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13. url:https://pubmed.ncbi.nlm.nih.gov/33199730/ A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22. MIM:620047 disease_ontology DOID:0051040 primary autosomal recessive microcephaly 29 DOID:0051040 A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22. url:https://pubmed.ncbi.nlm.nih.gov/32286682/ A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13. MIM:620183 disease_ontology DOID:0051041 primary autosomal recessive microcephaly 30 DOID:0051041 A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13. url:https://pubmed.ncbi.nlm.nih.gov/35044816/ An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. MIM:621094 disease_ontology DOID:0051042 autosomal dominant distal hereditary motor neuronopathy 15 DOID:0051042 An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. url:https://pubmed.ncbi.nlm.nih.gov/37907725/ A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. MIM:621095 axonal Charcot-Marie-Tooth disease type 2JJ disease_ontology DOID:0051043 Charcot-Marie-Tooth disease axonal type 2JJ DOID:0051043 A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. url:https://pubmed.ncbi.nlm.nih.gov/31853710/ A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23. MIM:619424 disease_ontology DOID:0051044 infantile-onset myofibrillar myopathy 12 with cardiomyopathy DOID:0051044 A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23. url:https://pubmed.ncbi.nlm.nih.gov/23365102/ A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24. MIM:621078 disease_ontology DOID:0051045 myofibrillar myopathy 13 with rimmed vacuoles DOID:0051045 A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24. url:https://pubmed.ncbi.nlm.nih.gov/31403083/ A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23. MIM:621099 disease_ontology DOID:0051046 spondyloepimetaphyseal dysplasia, Li-Shao-Li type DOID:0051046 A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23. url:https://pubmed.ncbi.nlm.nih.gov/39414788/ A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14. MIM:620546 disease_ontology DOID:0051047 congenital disorder of glycosylation type IIbb DOID:0051047 A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14. url:https://pubmed.ncbi.nlm.nih.gov/37711075/ A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. MIM:301045 disease_ontology DOID:0051048 congenital disorder of glycosylation type IIr DOID:0051048 A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. url:https://pubmed.ncbi.nlm.nih.gov/29127204/ A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41. MIM:618885 disease_ontology DOID:0051049 congenital disorder of glycosylation type IIt DOID:0051049 A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41. url:https://pubmed.ncbi.nlm.nih.gov/32293671/ A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. MIM:619493 disease_ontology DOID:0051050 congenital disorder of glycosylation type IIv DOID:0051050 A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. url:https://pubmed.ncbi.nlm.nih.gov/34143952/ A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. MIM:619525 disease_ontology DOID:0051051 congenital disorder of glycosylation type IIw DOID:0051051 A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. url:https://pubmed.ncbi.nlm.nih.gov/33964207/ A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22. MIM:620200 disease_ontology DOID:0051052 congenital disorder of glycosylation type IIy DOID:0051052 A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22. url:https://pubmed.ncbi.nlm.nih.gov/32395830/ A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23. MIM:620201 disease_ontology DOID:0051053 congenital disorder of glycosylation type IIz DOID:0051053 A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23. url:https://pubmed.ncbi.nlm.nih.gov/35262690/ A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH). MIM:607080 disease_ontology DOID:0051055 46,XY gonadal dysgenesis with minifascicular neuropathy DOID:0051055 A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH). url:https://pubmed.ncbi.nlm.nih.gov/10483790/ An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. GARD:6337 disease_ontology DOID:0060000 infective endocarditis DOID:0060000 An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. url:http://en.wikipedia.org/wiki/Endocarditis url:http://en.wikipedia.org/wiki/Infective_endocarditis A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol. disease_ontology DOID:0060001 withdrawal disorder DOID:0060001 A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol. url:http://en.wikipedia.org/wiki/Withdrawal A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. Quincke edema disease_ontology DOID:0060002 C1 inhibitor deficiency DOID:0060002 A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. url:http://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease ls:IEDB An autoimmune hypersensitivity disease located_in the central nervous system. disease_ontology DOID:0060004 autoimmune disease of central nervous system DOID:0060004 An autoimmune hypersensitivity disease located_in the central nervous system. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. disease_ontology DOID:0060005 autoimmune disease of endocrine system DOID:0060005 An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA. disease_ontology DOID:0060006 obsolete artemis deficiency true DOID:0060006 A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA. url:http://en.wikipedia.org/wiki/DCLRE1C A severe combined immunodeficiency that affects the development and function of T cells. disease_ontology DOID:0060007 CD3zeta deficiency DOID:0060007 A severe combined immunodeficiency that affects the development and function of T cells. url:https://www.ncbi.nlm.nih.gov/pubmed/16264327 A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells. MIM:600802 disease_ontology DOID:0060008 janus kinase-3 deficiency DOID:0060008 A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells. url:https://ghr.nlm.nih.gov/condition/jak3-deficient-severe-combined-immunodeficiency#inheritance A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy. MIM:604571 BLS, TYPE I BLSI HLA CLASS I DEFICIENCY bare lymphocyte syndrome type I disease_ontology DOID:0060009 OMIM mapping confirmed by DO. [SN]. MHC class I deficiency DOID:0060009 A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy. url:https://en.wikipedia.org/wiki/Bare_lymphocyte_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/25001848 BLSI A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. GARD:8198 ICD10CM:D81.8 MIM:603554 combined immunodeficiency with hypereosinophilia disease_ontology DOID:0060010 Omenn syndrome DOID:0060010 A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. url:https://en.wikipedia.org/wiki/Omenn_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/11213808 url:https://www.ncbi.nlm.nih.gov/pubmed/14328107 A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. disease_ontology DOID:0060011 recombinase activating gene 1 deficiency DOID:0060011 A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. url:http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. disease_ontology DOID:0060012 recombinase activating gene 2 deficiency DOID:0060012 A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. url:http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. DOID:5811 GARD:5618 MESH:D053632 MIM:300400 NCI:C4682 SNOMEDCT_US_2023_03_01:203592006 UMLS_CUI:C1279481 SCID-X1 XSCID gamma chain deficiency thymic epithelial hypoplasia disease_ontology DOID:0060013 OMIM mapping confirmed by DO. [LS]. X-linked severe combined immunodeficiency DOID:0060013 A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. url:http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency url:https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency#synonyms SCID-X1 XSCID A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. disease_ontology DOID:0060014 CD45 deficiency DOID:0060014 A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. url:https://www.ncbi.nlm.nih.gov/pubmed/29366662 A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. IL-7R disease_ontology DOID:0060015 Duplicate term. Use 'term replaced by' instead. [JAB] obsolete interleukin-7 receptor alpha deficiency true DOID:0060015 A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. url:https://www.ncbi.nlm.nih.gov/pubmed/15661025 A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. CD3D disease_ontology DOID:0060016 CD3delta deficiency DOID:0060016 A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. url:https://www.ncbi.nlm.nih.gov/pubmed/15640687 CD3D A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. disease_ontology DOID:0060017 CD3epsilon deficiency DOID:0060017 A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. url:https://www.ncbi.nlm.nih.gov/pubmed/16264327 A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. disease_ontology DOID:0060018 CD3gamma deficiency DOID:0060018 A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. url:https://www.ncbi.nlm.nih.gov/pubmed/16264327 A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. MIM:615401 disease_ontology DOID:0060019 coronin-1A deficiency DOID:0060019 A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. url:http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. DOID:1226 GARD:8625 MESH:C538361 MIM:267500 NCI:C27070 SNOMEDCT_US_2023_03_01:111584000 UMLS_CUI:C0272167 De Vaal disease disease_ontology aleukocytosis DOID:0060020 OMIM mapping confirmed by DO. [SN]. reticular dysgenesis DOID:0060020 A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. url:http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum url:http://www.ncbi.nlm.nih.gov/gene/204? A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. MIM:606593 LIG4 Syndrome disease_ontology DOID:0060021 OMIM mapping confirmed by DO. [SN]. DNA ligase IV deficiency DOID:0060021 A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. url:http://omim.org/entry/606593 url:http://www.ncbi.nlm.nih.gov/gene/3981 A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. MIM:308230 HIGMX-1 X-linked hyper-IgM syndrome disease_ontology DOID:0060022 CD40 ligand deficiency DOID:0060022 A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. url:https://www.ncbi.nlm.nih.gov/pubmed/30681380 HIGMX-1 A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. GARD:10579 MIM:606843 NCI:C176416 ORDO:101090 UMLS_CUI:C1720957 CD40 deficiency HIGM3 hyper-IgM syndrome due to CD40 deficiency type 3 hyper-IgM immunodeficiency disease_ontology DOID:0060023 immunodeficiency with hyper IgM type 3 GARD:10579 MIM:606843 NCI:C176416 ORDO:101090 UMLS_CUI:C1720957 DOID:0060023 A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. url:https://www.ncbi.nlm.nih.gov/pubmed/11675497 HIGM3 A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage. disease_ontology DOID:0060024 lambda 5 deficiency DOID:0060024 A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage. url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770 url:http://www.ncbi.nlm.nih.gov/gene/3543? A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor. GARD:10197 MESH:D017098 MIM:137100 MIM:269650 MIM:609529 ORDO:69127 SNOMEDCT_US_2023_03_01:29260007 UMLS_CUI:C0162538 IgA deficiency gamma-A-globulin deficiency disease_ontology DOID:0060025 Xref MGI. immunoglobulin alpha deficiency DOID:0060025 A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor. url:http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205 url:http://www.ncbi.nlm.nih.gov/gene/973? A B cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin A antibody, and has_material_basis_in autosomal recessive inheritance. disease_ontology IgB deficiency DOID:0060026 immunoglobulin beta deficiency DOID:0060026 A B cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin A antibody, and has_material_basis_in autosomal recessive inheritance. url:https://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2. MIM:613502 B cell linker protein deficiency B-cell linker protein deficiency BLNK deficiency disease_ontology DOID:0060027 agammaglobulinemia 4 DOID:0060027 An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10583958 A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. thymoma with hypogammaglobulinemia disease_ontology DOID:0060028 Good syndrome DOID:0060028 A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. url:http://en.wikipedia.org/wiki/Good_syndrome url:https://www.ncbi.nlm.nih.gov/articles/PMC3102047/ An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system. disease_ontology DOID:0060029 autoimmune disease of exocrine system DOID:0060029 An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat. disease_ontology DOID:0060030 autoimmune disease of eyes, ear, nose and throat DOID:0060030 An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. disease_ontology DOID:0060031 autoimmune disease of gastrointestinal tract DOID:0060031 An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. disease_ontology DOID:0060032 autoimmune disease of musculoskeletal system DOID:0060032 An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. disease_ontology DOID:0060033 autoimmune disease of peripheral nervous system DOID:0060033 An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. floppy head syndrome disease_ontology DOID:0060034 dropped head syndrome DOID:0060034 A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. url:https://pubmed.ncbi.nlm.nih.gov/23203936/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3621852/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763751 A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. disease_ontology DOID:0060035 obsolete medical disorder true DOID:0060035 A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. url:http://en.wikipedia.org/wiki/Diseases#Disorder url:http://www.medilexicon.com/medicaldictionary.php?t=25959 A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. disease_ontology DOID:0060036 intrinsic cardiomyopathy DOID:0060036 A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. url:https://en.wikipedia.org/wiki/Cardiomyopathy A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. disease_ontology DOID:0060037 developmental disorder of mental health DOID:0060037 A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. url:http://en.wikipedia.org/wiki/Developmental_disorders A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. disease_ontology DOID:0060038 specific developmental disorder DOID:0060038 A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. url:http://en.wikipedia.org/wiki/Specific_developmental_disorder An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. disease_ontology DOID:0060039 autoimmune disease of skin and connective tissue DOID:0060039 An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. DOID:1208 ICD9CM:299.80 UMLS_CUI:C0154451 Pervasive Child Development Disorders pervasive development disorder disease_ontology DOID:0060040 pervasive developmental disorder DOID:0060040 A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. url:https://www.ninds.nih.gov/health-information/disorders/pervasive-developmental-disorders A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. GARD:10248 MESH:D000067877 disease_ontology DOID:0060041 autism spectrum disorder DOID:0060041 A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. url:http://en.wikipedia.org/wiki/Autism_spectrum_disorder url:http://www.neurodevnet.ca url:https://www.genome.gov/Genetic-Disorders/Autism An autism spectrum disorder that involves some autistic symptoms occurring after age 3 with an absence of all the traits necessary for a diagnosis of autism. PDD disease_ontology DOID:0060042 atypical autism DOID:0060042 An autism spectrum disorder that involves some autistic symptoms occurring after age 3 with an absence of all the traits necessary for a diagnosis of autism. url:http://counsellingresource.com/distress/autistic/autism-atypical.html url:https://kidsbrainhealth.ca url:https://www.thehealthboard.com/what-is-atypical-autism.htm PDD A disease of mental health that involves the impairment in normal sexual functioning. disease_ontology DOID:0060043 sexual health disorder DOID:0060043 A disease of mental health that involves the impairment in normal sexual functioning. url:https://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects. disease_ontology DOID:0060044 paraphilia disorder DOID:0060044 A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects. url:https://en.wikipedia.org/wiki/Paraphilia A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. disease_ontology DOID:0060045 Munchausen by proxy DOID:0060045 A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. url:http://en.wikipedia.org/wiki/Munchausen_by_proxy A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language. MESH:D001037 disease_ontology DOID:0060046 aphasia MESH:D001037 DOID:0060046 A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language. url:http://en.wikipedia.org/wiki/Aphasia A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. disease_ontology DOID:0060047 writing disorder DOID:0060047 A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. url:http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities A specific phobia that involves an irrational fear of contracting a disease. disease_ontology DOID:0060048 nosophobia DOID:0060048 A specific phobia that involves an irrational fear of contracting a disease. url:http://en.wikipedia.org/wiki/Nosophobia An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. disease_ontology DOID:0060049 autoimmune disease of urogenital tract DOID:0060049 An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. disease_ontology DOID:0060050 autoimmune disease of blood DOID:0060050 An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. disease_ontology DOID:0060051 autoimmune disease of cardiovascular system DOID:0060051 An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness. disease_ontology DOID:0060052 obsolete neurological disorder true DOID:0060052 A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness. ls:IEDB A neuropathy that is located_in nerves of the peripheral nervous system. disease_ontology DOID:0060053 obsolete peripheral neuropathy true DOID:0060053 A neuropathy that is located_in nerves of the peripheral nervous system. url:http://en.wikipedia.org/wiki/Sensory_neuropathy A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence. disease_ontology DOID:0060054 autonomic peripheral neuropathy DOID:0060054 A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence. url:https://en.wikipedia.org/wiki/Autonomic_neuropathy A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1. emitraka 2015-02-04T14:16:39Z GARD:3242 MESH:C562509 MIM:119500 MIM:263650 NCI:C118786 ORDO:1300 ORDO:294963 SNOMEDCT_US_2023_03_01:205820002 UMLS_CUI:C0265259 facio-genito-popliteal syndrome popliteal web syndrome disease_ontology DOID:0060055 NT MGI. popliteal pterygium syndrome DOID:0060055 A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1. url:http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome url:https://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/2352260 url:https://www.ncbi.nlm.nih.gov/pubmed/4384166 An immune system disease that has_material_basis_in abnormal immune responses. disease_ontology DOID:0060056 hypersensitivity reaction disease DOID:0060056 An immune system disease that has_material_basis_in abnormal immune responses. url:http://en.wikipedia.org/wiki/Hypersensitivity url:http://www.ncbi.nlm.nih.gov/books/NBK27136/ A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance. allergy to gluten gluten allergic reaction disease_ontology DOID:0060057 gluten allergy DOID:0060057 A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance. url:https://acaai.org/allergies/types/food-allergies/types-food-allergy/wheat-gluten-allergy A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. DOID:1033 DOID:353 ICD10CM:C85.9 ICDO:9590/3 MESH:D008223 NCI:C3208 NCI:C7065 SNOMEDCT_US_2023_03_01:118600007 SNOMEDCT_US_2023_03_01:414628006 UMLS_CUI:C0024299 UMLS_CUI:C0598798 lymphoid cancer disease_ontology DOID:0060058 lymphoma DOID:0060058 A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. url:http://en.wikipedia.org/wiki/Lymphoma url:http://www.lymphoma.org/site/pp.asp?c=bkLTKaOQLmK8E&b=6300161 url:http://www.nlm.nih.gov/medlineplus/lymphoma.html A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. ICD10CM:C85.9 ICDO:9591/3 MESH:D008228 MIM:605027 NCI:C3211 ORDO:547 SNOMEDCT_US_2023_03_01:118601006 UMLS_CUI:C0024305 disease_ontology DOID:0060060 OMIM mapping confirmed by DO. [LS]. non-Hodgkin lymphoma DOID:0060060 A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. url:http://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma url:http://www.cancer.gov/dictionary?CdrID=45148 A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells. GARD:6226 MESH:D016410 NCI:C3467 cutaneous T cell lymphoma cutaneous T-cell lymphoma disease_ontology DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma DOID:0060061 A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells. url:http://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma A kidney disease that is characterized by normal urinalysis and slowly progressive chronic kidney disease, usually first noted in the teen years and progressing to end-stage renal disease between the third and seventh decades. MIM:PS162000 ORDO:34149 HNFJ MCKD familial juvenile hyperuricemic nephropathy medullary cystic kidney disease disease_ontology DOID:0060062 Xref MGI. OMIM mapping confirmed by DO. [LS]. autosomal dominant tubulointerstitial kidney disease MIM:614227 DOID:0060062 A kidney disease that is characterized by normal urinalysis and slowly progressive chronic kidney disease, usually first noted in the teen years and progressing to end-stage renal disease between the third and seventh decades. url:https://www.ncbi.nlm.nih.gov/books/NBK1356/ HNFJ MCKD A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production. GARD:9456 MIM:300751 X-linked sideroblastic anaemia X-linked sideroblastic anemia XLSA sideroblastic anaemia 1 disease_ontology DOID:0060063 OMIM mapping confirmed by DO. [LS]. sideroblastic anemia 1 DOID:0060063 A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production. url:https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia XLSA A sideoblastic anemia that is characterized by microcytic hypochromic anemia and ealy-onset, slowly progressive spinocerebellar ataxia, and has_material_basis_in X-linked inheritance of mutation in the ABCB7 gene that encodes a transporter protein that plays a role in heme production in the bone marrow and cerebellum. ASAT disease_ontology DOID:0060064 OMIM mapping confirmed by DO. [LS]. obsolete sideroblastic anemia with spinocerebellar ataxia true DOID:0060064 A sideoblastic anemia that is characterized by microcytic hypochromic anemia and ealy-onset, slowly progressive spinocerebellar ataxia, and has_material_basis_in X-linked inheritance of mutation in the ABCB7 gene that encodes a transporter protein that plays a role in heme production in the bone marrow and cerebellum. url:https://rarediseases.info.nih.gov/diseases/668/anemia-sideroblastic-and-spinocerebellar-ataxia A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene. MIM:205950 autosomal recessive pyridoxine-refractory sideroblastic anaemia 2 pyridoxine-refractory autosomal recessive sideroblastic anaemia pyridoxine-refractory autosomal recessive sideroblastic anemia disease_ontology DOID:0060065 OMIM mapping confirmed by DO. [LS]. autosomal recessive pyridoxine-refractory sideroblastic anemia 2 DOID:0060065 A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene. url:https://rarediseases.info.nih.gov/diseases/8249/sideroblastic-anemia-pyridoxine-refractory-autosomal-recessive A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance. MIM:206000 disease_ontology DOID:0060066 OMIM mapping confirmed by DO. [LS]. pyridoxine-responsive sideroblastic anemia DOID:0060066 A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance. url:https://rarediseases.info.nih.gov/diseases/9872/sideroblastic-anemia-pyridoxine-responsive-autosomal-recessive A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. GARD:7343 MIM:557000 Pearson Marrow-Pancreas Syndrome disease_ontology DOID:0060067 OMIM mapping confirmed by DO. [LS]. Pearson syndrome DOID:0060067 A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. url:http://en.wikipedia.org/wiki/Pearson_syndrome An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. lschriml 2011-04-13T03:14:26Z MESH:D059905 marantic endocarditis non-bacterial thrombotic endocarditis disease_ontology DOID:0060068 nonbacterial thrombotic endocarditis DOID:0060068 An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. url:http://en.wikipedia.org/wiki/Marantic_endocarditis lschriml 2011-04-15T11:41:26Z disease_ontology DOID:0060069 obsolete Bacillus cereus pneumonia true DOID:0060069 A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. lschriml 2011-05-11T12:18:41Z disease_ontology DOID:0060071 pre-malignant neoplasm DOID:0060071 A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. url:http://en.wikipedia.org/wiki/Neoplasm A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. lschriml 2011-05-11T12:18:41Z disease_ontology DOID:0060072 benign neoplasm DOID:0060072 A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. url:http://en.wikipedia.org/wiki/Benign_neoplasm url:http://www.nlm.nih.gov/medlineplus/benigntumors.html An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. lschriml 2011-05-11T01:05:14Z disease_ontology DOID:0060073 lymphatic system cancer DOID:0060073 An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. url:http://en.wikipedia.org/wiki/Lymphatic_system A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells. lschriml 2011-06-08T12:19:28Z disease_ontology DOID:0060074 ductal carcinoma in situ DOID:0060074 A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells. url:https://www.breastcancer.org/symptoms/types/dcis url:https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=ductal+carcinoma A breast cancer that is characterized by the presence of estrogen receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060075 estrogen-receptor positive breast cancer DOID:0060075 A breast cancer that is characterized by the presence of estrogen receptors. url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html url:https://www.ncbi.nlm.nih.gov/pubmed/25471040 A breast cancer that is characterized by the absence of estrogen receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060076 estrogen-receptor negative breast cancer DOID:0060076 A breast cancer that is characterized by the absence of estrogen receptors. url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html url:https://www.ncbi.nlm.nih.gov/pubmed/25471040 A breast cancer that is characterized by the presence of progesterone receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060077 progesterone-receptor positive breast cancer DOID:0060077 A breast cancer that is characterized by the presence of progesterone receptors. url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html url:https://www.ncbi.nlm.nih.gov/pubmed/25471040 A breast cancer that is characterized by the absence of progesterone receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060078 progesterone-receptor negative breast cancer DOID:0060078 A breast cancer that is characterized by the absence of progesterone receptors. url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html url:https://www.ncbi.nlm.nih.gov/pubmed/25471040 A breast cancer that is characterized by the presence of Her2 receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060079 Her2-receptor positive breast cancer DOID:0060079 A breast cancer that is characterized by the presence of Her2 receptors. url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html url:https://www.sciencedirect.com/science/article/pii/S1470204511703369 A breast cancer that is characterized by the absence of Her2 receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060080 Her2-receptor negative breast cancer DOID:0060080 A breast cancer that is characterized by the absence of Her2 receptors. url:https://www.ncbi.nlm.nih.gov/pubmed/25682076 A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060081 triple-receptor negative breast cancer DOID:0060081 A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors. url:https://www.ncbi.nlm.nih.gov/pubmed/22826413 A thoracic benign neoplasm that is characterized by lack of malignancy. lschriml 2011-06-08T01:02:29Z disease_ontology DOID:0060082 breast benign neoplasm DOID:0060082 A thoracic benign neoplasm that is characterized by lack of malignancy. url:https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions.html An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. lschriml 2011-06-08T01:11:18Z ICDO:9392/3 disease_ontology DOID:0060083 immune system cancer DOID:0060083 An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. url:http://en.wikipedia.org/wiki/Immune_system A benign neoplasm that is classified by the type of cell or tissue from which it is derived. lschriml 2011-07-14T11:59:48Z disease_ontology DOID:0060084 cell type benign neoplasm DOID:0060084 A benign neoplasm that is classified by the type of cell or tissue from which it is derived. url:http://en.wikipedia.org/wiki/Benign_tumor A benign neoplasm that is classified by the organ system from which it is arising from. lschriml 2011-07-14T12:12:23Z NCI:C3677 disease_ontology DOID:0060085 organ system benign neoplasm DOID:0060085 A benign neoplasm that is classified by the organ system from which it is arising from. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3677 A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system. lschriml 2011-07-14T12:20:52Z disease_ontology DOID:0060086 female reproductive organ benign neoplasm DOID:0060086 A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system. url:https://www.ncbi.nlm.nih.gov/books/NBK9559/ A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system. lschriml 2011-07-14T12:20:52Z disease_ontology DOID:0060087 male reproductive organ benign neoplasm DOID:0060087 A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system. url:https://www.ncbi.nlm.nih.gov/books/NBK9556/ A female reproductive organ benign neoplasm that is located_in the vestibular gland. lschriml 2011-07-14T12:36:54Z disease_ontology DOID:0060088 vestibular gland benign neoplasm DOID:0060088 A female reproductive organ benign neoplasm that is located_in the vestibular gland. url:https://en.wikipedia.org/wiki/Bartholin%27s_gland url:https://link.springer.com/chapter/10.1007/978-3-642-74828-8_4 An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. lschriml 2011-07-14T01:45:15Z disease_ontology DOID:0060089 endocrine organ benign neoplasm DOID:0060089 An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. url:http://en.wikipedia.org/wiki/Endocrine_system A nervous system benign neoplasm that is characterized by lack of malignancy. lschriml 2011-07-14T01:45:15Z disease_ontology DOID:0060090 central nervous system benign neoplasm DOID:0060090 A nervous system benign neoplasm that is characterized by lack of malignancy. url:https://www.cancer.gov/types/brain/patient/adult-brain-treatment-pdq An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. lschriml 2011-07-14T01:45:15Z disease_ontology DOID:0060091 cardiovascular organ benign neoplasm DOID:0060091 An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. url:http://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system An organ system benign neoplasm located_in the immune system organs. lschriml 2011-07-14T01:58:49Z disease_ontology DOID:0060092 immune system organ benign neoplasm DOID:0060092 An organ system benign neoplasm located_in the immune system organs. url:http://en.wikipedia.org/wiki/Immune_system A connective tissue benign neoplasm that is located_in bone. lschriml 2011-07-15T01:34:59Z disease_ontology DOID:0060094 bone benign neoplasm DOID:0060094 A connective tissue benign neoplasm that is located_in bone. url:http://en.wikipedia.org/wiki/Bone_tumor A female reproductive organ benign neoplasm that is located_in the uterus. lschriml 2011-07-15T01:42:11Z DOID:0060113 disease_ontology DOID:0060095 uterine benign neoplasm DOID:0060095 A female reproductive organ benign neoplasm that is located_in the uterus. url:https://en.wikipedia.org/wiki/Uterine_fibroid url:https://www.ncbi.nlm.nih.gov/books/NBK9559/ A nervous system benign neoplasm that is located_in a sensory organ. lschriml 2011-07-15T01:45:26Z disease_ontology DOID:0060096 sensory organ benign neoplasm DOID:0060096 A nervous system benign neoplasm that is located_in a sensory organ. url:http://en.wikipedia.org/wiki/Sensory_system An organ system benign neoplam that is located_in the thoracic cavity. lschriml 2011-07-15T01:55:57Z disease_ontology DOID:0060097 thoracic benign neoplasm DOID:0060097 An organ system benign neoplam that is located_in the thoracic cavity. url:http://en.wikipedia.org/wiki/Thoracic_cavity A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas. lschriml 2011-07-15T02:14:40Z ICDO:9200/0 MESH:D018215 disease_ontology DOID:0060098 osteoblastoma DOID:0060098 A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas. url:https://en.wikipedia.org/wiki/Osteoblastoma An organ system benign neoplasm that is located_in the muscular and skeletal organs. lschriml 2011-07-15T02:28:52Z disease_ontology DOID:0060099 musculoskeletal system benign neoplasm DOID:0060099 An organ system benign neoplasm that is located_in the muscular and skeletal organs. url:http://en.wikipedia.org/wiki/Musculoskeletal_system An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. lschriml 2011-07-15T02:30:51Z DOID:0060124 skeletal system cancer disease_ontology DOID:0060100 musculoskeletal system cancer DOID:0060100 An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. url:http://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders A cell type benign neoplasm that has_material_basis_in glial cells. lschriml 2011-07-19T01:27:04Z disease_ontology DOID:0060101 obsolete benign glioma true DOID:0060101 A cell type benign neoplasm that has_material_basis_in glial cells. url:http://www.cancer.gov/dictionary?CdrID=45700 A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma. lschriml 2011-07-20T01:40:49Z disease_ontology DOID:0060102 cartilage cancer DOID:0060102 A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma. url:https://en.wikipedia.org/wiki/Cartilage_tumor A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm. lschriml 2011-07-21T02:24:10Z ICDO:9473/3 NCI:C5398 CNS embryonal tumour, NEC/NOS central nervous system primitive neuroectodermal neoplasm disease_ontology DOID:0060103 central nervous system embryonal tumor DOID:0060103 A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm. url:http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151465 url:https://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. lschriml 2011-07-21T02:28:01Z disease_ontology DOID:0060104 cerebellar medulloblastoma DOID:0060104 A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. url:http://en.wikipedia.org/wiki/Medulloblastoma A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. lschriml 2011-07-21T05:39:28Z disease_ontology DOID:0060106 brain meningioma DOID:0060106 A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. url:https://en.wikipedia.org/wiki/Meningioma A brain cancer that has_material_basis_in glial cells. lschriml 2011-07-22T12:42:50Z lower grade glioma disease_ontology DOID:0060108 brain glioma DOID:0060108 A brain cancer that has_material_basis_in glial cells. url:http://cancergenome.nih.gov/cancersselected/lowergradeglioma url:http://www.cancer.gov/dictionary?CdrID=45700 A female reproductive organ benign neoplasm that is located_in the vulva. lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060109 vulvar benign neoplasm DOID:0060109 A female reproductive organ benign neoplasm that is located_in the vulva. url:https://www.ncbi.nlm.nih.gov/pubmed/25220103 A female reproductive organ benign neoplasm that is located_in the cervix. lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060110 cervical benign neoplasm DOID:0060110 A female reproductive organ benign neoplasm that is located_in the cervix. url:https://www.ncbi.nlm.nih.gov/pubmed/8400047 A female reproductive organ benign neoplasm that is located_in the fallopian tube. lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060111 fallopian tube benign neoplasm DOID:0060111 A female reproductive organ benign neoplasm that is located_in the fallopian tube. url:http://www.glowm.com/section_view/item/8 A female reproductive organ benign neoplasm that is located_in the ovary. lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060112 ovarian benign neoplasm DOID:0060112 A female reproductive organ benign neoplasm that is located_in the ovary. url:https://www.ncbi.nlm.nih.gov/pubmed/24992780 A female reproductive organ benign neoplasm that is located_in the vagina. lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060114 vaginal benign neoplasm DOID:0060114 A female reproductive organ benign neoplasm that is located_in the vagina. url:https://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5 An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. lschriml 2011-07-25T12:47:43Z disease_ontology DOID:0060115 nervous system benign neoplasm DOID:0060115 An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. url:http://en.wikipedia.org/wiki/Nervous_system A nervous system cancer that is located in the sensory system. lschriml 2011-07-25T01:51:56Z disease_ontology DOID:0060116 sensory system cancer DOID:0060116 A nervous system cancer that is located in the sensory system. url:http://en.wikipedia.org/wiki/Sensory_system A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. lschriml 2011-07-25T02:20:33Z disease_ontology DOID:0060117 peritoneal benign neoplasm DOID:0060117 A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. url:http://en.wikipedia.org/wiki/Peritoneal A disease of anatomical entity that is located_in the thoracic cavity. lschriml 2011-07-25T02:23:47Z disease_ontology DOID:0060118 thoracic disease DOID:0060118 A disease of anatomical entity that is located_in the thoracic cavity. url:http://en.wikipedia.org/wiki/Thoracic_cavity A gastrointestinal system cancer that is located_in the pharynx. lschriml 2011-07-27T01:26:34Z MESH:D010610 NCI:C3325 SNOMEDCT_US_2023_03_01:126685009 UMLS_CUI:C0031347 pharyngeal neoplasm pharynx neoplasm disease_ontology pharyngeal cancer DOID:0060119 pharynx cancer DOID:0060119 A gastrointestinal system cancer that is located_in the pharynx. url:http://en.wikipedia.org/wiki/Pharynx lschriml 2011-07-27T01:46:00Z disease_ontology DOID:0060120 obsolete skeletal system benign neoplasm true DOID:0060120 An organ system benign neoplasm located_in the integumentary system organs. lschriml 2011-07-27T01:49:44Z disease_ontology DOID:0060121 integumentary system benign neoplasm DOID:0060121 An organ system benign neoplasm located_in the integumentary system organs. url:http://en.wikipedia.org/wiki/Integumentary_system An organ system cancer that is located_in the skin, hair and nails. lschriml 2011-07-27T02:31:34Z disease_ontology DOID:0060122 integumentary system cancer DOID:0060122 An organ system cancer that is located_in the skin, hair and nails. url:http://en.wikipedia.org/wiki/Integumentary_system A musculoskeletal system benign neoplasm that is located_in connective tissue. lschriml 2011-07-27T02:35:57Z DOID:177 MESH:D012983 NCI:C3377 SNOMEDCT_US_2023_03_01:126600002 UMLS_CUI:C0037579 mesenchymal tissue neoplasm neoplasm of soft tissue neoplasm of soft tissues soft tissue benign neoplasm tumor of the soft tissue disease_ontology DOID:0060123 connective tissue benign neoplasm DOID:0060123 A musculoskeletal system benign neoplasm that is located_in connective tissue. url:http://en.wikipedia.org/wiki/Connective_tissue_neoplasm A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. lschriml 2011-08-22T11:23:09Z ICD10CM:C88.2 ICDO:9762/3 MESH:D006362 NCI:C3082 NCI:C3083 NCI:C3892 SNOMEDCT_US_2023_03_01:61493004 SNOMEDCT_US_2023_03_01:6381009 SNOMEDCT_US_2023_03_01:68979007 UMLS_CUI:C0018852 UMLS_CUI:C0018854 UMLS_CUI:C0242310 disease_ontology DOID:0060125 heavy chain disease MESH:D006362 DOID:0060125 A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. url:http://en.wikipedia.org/wiki/Heavy_chain_disease A heavy chain disease that results from an overproduction of alpha antibodies (IgA). lschriml 2011-08-22T11:23:09Z Seligmann's disease disease_ontology DOID:0060126 alpha chain disease DOID:0060126 A heavy chain disease that results from an overproduction of alpha antibodies (IgA). url:http://en.wikipedia.org/wiki/Heavy_chain_disease A heavy chain disease that results from an overproduction of gamma antibody (IgG). lschriml 2011-08-22T11:23:09Z GARD:10346 Franklin's disease disease_ontology DOID:0060127 gamma heavy chain disease DOID:0060127 A heavy chain disease that results from an overproduction of gamma antibody (IgG). url:https://pubmed.ncbi.nlm.nih.gov/2509855/ A heavy chain disease that results from an overproduction of mu antibody (IgM). lschriml 2011-08-22T11:23:09Z disease_ontology DOID:0060128 mu chain disease DOID:0060128 A heavy chain disease that results from an overproduction of mu antibody (IgM). url:http://en.wikipedia.org/wiki/Heavy_chain_disease A heavy chain disease that results from an overproduction of delta antibody (IgD). lschriml 2011-08-22T11:23:09Z disease_ontology DOID:0060129 delta chain disease DOID:0060129 A heavy chain disease that results from an overproduction of delta antibody (IgD). url:http://en.wikipedia.org/wiki/Heavy_chain_disease An agnosia that is a loss of motion perception. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060130 akinetopsia DOID:0060130 An agnosia that is a loss of motion perception. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a deficiency in understanding, processing, or describing emotions. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060131 alexithymia DOID:0060131 An agnosia that is a deficiency in understanding, processing, or describing emotions. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. lschriml 2011-08-22T12:04:56Z receptive amusia disease_ontology DOID:0060132 amusia DOID:0060132 An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060133 anosognosia DOID:0060133 An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to distinguish visual shapes. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060134 apperceptive agnosia DOID:0060134 An agnosia that is a loss of the ability to distinguish visual shapes. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. lschriml 2011-08-22T12:04:56Z GARD:5838 ICD10CM:R48.2 MESH:D001072 NCI:C180557 SNOMEDCT_US_2023_03_01:271724003 UMLS_CUI:C0003635 disease_ontology DOID:0060135 apraxia MESH:D001072 DOID:0060135 An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060136 associative agnosia DOID:0060136 An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060137 auditory agnosia DOID:0060137 An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to orient parts of the body. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060138 autotopagnosia DOID:0060138 An agnosia that is a loss of the ability to orient parts of the body. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060139 color agnosia DOID:0060139 An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060140 cortical deafness DOID:0060140 An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to distinguish the fingers on the hand. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060141 finger agnosia DOID:0060141 An agnosia that is a loss of the ability to distinguish the fingers on the hand. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060142 form agnosia DOID:0060142 An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060143 integrative agnosia DOID:0060143 An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060144 mirror agnosia DOID:0060144 An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to perceive and process pain. lschriml 2011-08-22T12:04:56Z analgesia disease_ontology DOID:0060145 pain agnosia DOID:0060145 An agnosia that is a loss of the ability to perceive and process pain. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize familiar voices. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060146 phonagnosia DOID:0060146 An agnosia that is a loss of the ability to recognize familiar voices. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060147 semantic agnosia DOID:0060147 An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. lschriml 2011-08-22T12:04:56Z GARD:11943 disease_ontology DOID:0060148 simultanagnosia DOID:0060148 An agnosia that is a loss of the ability to recognize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. lschriml 2011-08-22T12:04:56Z expressive agnosia disease_ontology DOID:0060149 social emotional agnosia DOID:0060149 An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. lschriml 2011-08-22T12:04:56Z somatosensory agnosia disease_ontology DOID:0060150 astereognosia DOID:0060150 An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognize or identify objects by touch alone. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060151 tactile agnosia DOID:0060151 An agnosia that is a loss of the ability to recognize or identify objects by touch alone. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to comprehend the succession and duration of events. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060152 time agnosia DOID:0060152 An agnosia that is a loss of the ability to comprehend the succession and duration of events. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060153 topographical agnosia DOID:0060153 An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060154 verbal auditory agnosia DOID:0060154 An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to visually recognize objects. lschriml 2011-08-22T12:04:56Z MESH:C531604 UMLS_CUI:C2930796 disease_ontology DOID:0060155 visual agnosia DOID:0060155 An agnosia that is a loss of the ability to visually recognize objects. url:http://en.wikipedia.org/wiki/Agnosia An agnosia that is a loss of the ability to comprehending the meaning of written words. lschriml 2011-08-22T12:04:56Z disease_ontology DOID:0060156 visual verbal agnosia DOID:0060156 An agnosia that is a loss of the ability to comprehending the meaning of written words. url:http://en.wikipedia.org/wiki/Agnosia An alopecia areata that involves diffuse loss of hair over the whole scalp. lschriml 2011-08-22T03:45:02Z SNOMEDCT_US_2023_03_01:46586006 UMLS_CUI:C0263479 disease_ontology DOID:0060157 diffuse alopecia areata DOID:0060157 An alopecia areata that involves diffuse loss of hair over the whole scalp. url:http://en.wikipedia.org/wiki/Alopecia_areata A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. lschriml 2011-08-24T02:53:03Z disease_ontology DOID:0060158 acquired metabolic disease DOID:0060158 A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. url:http://en.wikipedia.org/wiki/Inborn_error_of_metabolism url:http://www.ncbi.nlm.nih.gov/mesh/68008659 An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. lschriml 2011-08-26T11:17:14Z GARD:9433 organic acid metabolism disorder organic aciduria disease_ontology DOID:0060159 organic acidemia DOID:0060159 An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. url:http://en.wikipedia.org/wiki/Aciduria A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene. lschriml 2011-08-29T01:15:14Z GARD:7674 MESH:D014897 NCI:C85076 ORDO:70 UMLS_CUI:C0700595 spinal muscular atrophies of childhood survival motor neuron spinal muscular atrophy disease_ontology DOID:0060160 childhood spinal muscular atrophy DOID:0060160 A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene. url:http://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. lschriml 2011-08-29T01:31:03Z GARD:6818 MESH:D055534 MIM:313200 NCI:C85233 SNOMEDCT_US_2023_03_01:230253001 UMLS_CUI:C1839259 Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy disease_ontology DOID:0060161 Kennedy's disease DOID:0060161 A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. url:http://en.wikipedia.org/wiki/Kennedy_disease SBMA An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. lschriml 2011-08-29T01:41:48Z GARD:5643 MESH:D020191 MIM:125370 NCI:C122653 SNOMEDCT_US_2023_03_01:702422004 UMLS_CUI:C0751781 DRPLA Haw River Syndrome Naito-Oyanagi disease disease_ontology DOID:0060162 dentatorubral-pallidoluysian atrophy MESH:D020191 NCI:C122653 UMLS_CUI:C0751781 DOID:0060162 An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. url:http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy DRPLA A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). lschriml 2011-09-07T01:38:34Z body dysmorphia dysmorphic syndrome dysmorphophobia disease_ontology DOID:0060163 body dysmorphic disorder DOID:0060163 A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). url:http://en.wikipedia.org/wiki/Body_dysmorphic_disorder A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. lschriml 2011-09-07T01:42:46Z disease_ontology DOID:0060164 pain disorder DOID:0060164 A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. url:http://en.wikipedia.org/wiki/Pain_disorder A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. lschriml 2011-09-07T02:46:02Z MESH:D017593 MIM:148840 disease_ontology DOID:0060165 Kleine-Levin syndrome DOID:0060165 A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. url:http://en.wikipedia.org/wiki/Kleine-Levin_syndrome A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. lschriml 2011-09-09T02:27:46Z disease_ontology DOID:0060166 bipolar ll disorder DOID:0060166 A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. url:http://en.wikipedia.org/wiki/Bipolar_II A mental depression that involves presentation of depressive symptoms only during a specific season of the year. lschriml 2011-09-09T02:53:18Z MESH:D016574 winter depression disease_ontology DOID:0060167 seasonal affective disorder DOID:0060167 A mental depression that involves presentation of depressive symptoms only during a specific season of the year. url:http://en.wikipedia.org/wiki/Seasonal_affective_disorder A histidine metabolism disease characterized by a deficiency of the enzyme histidase. lschriml 2011-09-20T12:47:05Z GARD:6661 MESH:C538320 MIM:235800 histidinuria disease_ontology DOID:0060168 histidinemia DOID:0060168 A histidine metabolism disease characterized by a deficiency of the enzyme histidase. url:http://en.wikipedia.org/wiki/Histidinemia url:https://ghr.nlm.nih.gov/condition/histidinemia An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. lschriml 2011-10-28T02:55:02Z GARD:1518 GARD:857 MIM:PS601764 ORDO:306 BFIC BFIE benign familial infantile convulsion benign familial infantile seizures disease_ontology DOID:0060169 Xref MGI. benign familial infantile epilepsy DOID:0060169 An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. url:https://www.ncbi.nlm.nih.gov/pubmed/12503648 BFIC BFIE An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. lschriml 2011-10-28T02:57:50Z ICD10CM:G40.3 MESH:C565808 ORDO:36387 GEFS+ disease_ontology DOID:0060170 Xref MGI. generalized epilepsy with febrile seizures plus DOID:0060170 An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. url:https://www.ncbi.nlm.nih.gov/pubmed/22011963 GEFS+ lschriml 2011-10-28T03:14:46Z disease_ontology DOID:0060171 obsolete Dravet syndrome true DOID:0060171 An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. lschriml 2011-11-08T10:42:18Z disease_ontology DOID:0060172 JA:Epilepsy Genetics Kiel juvenile absence epilepsy DOID:0060172 An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. url:https://www.ncbi.nlm.nih.gov/pubmed/27986418 A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene. lschriml 2011-11-08T12:52:33Z GARD:9294 ICD10CM:G72.3 MESH:C536962 MIM:601005 ORDO:65283 UMLS_CUI:C1832916 disease_ontology long QT syndrome with syndactyly DOID:0060173 Timothy syndrome UMLS_CUI:C1832916 DOID:0060173 A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene. url:http://www.ncbi.nlm.nih.gov/books/NBK1403/ url:https://ghr.nlm.nih.gov/condition/timothy-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/15863612 A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. lschriml 2011-11-08T01:52:22Z MIM:613163 Gamma-amino butyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency disease_ontology DOID:0060174 GABA aminotransferase deficiency DOID:0060174 A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. url:https://ghr.nlm.nih.gov/condition/gaba-transaminase-deficiency#synonyms A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. lschriml 2011-11-08T02:02:12Z MESH:C535803 MIM:271980 4-hydroxybutyric aciduria SSADH gamma-hydroxybutyric aciduria disease_ontology DOID:0060175 succinic semialdehyde dehydrogenase deficiency DOID:0060175 A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. url:http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism SSADH An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. lschriml 2011-11-08T02:02:12Z disease_ontology DOID:0060176 gamma-amino butyric acid metabolism disorder DOID:0060176 An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. url:https://www.ncbi.nlm.nih.gov/pubmed/12891648 A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. lschriml 2011-11-08T02:02:12Z GARD:2730 MESH:C535328 disease_ontology DOID:0060177 homocarnosinosis DOID:0060177 A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. url:http://en.wikipedia.org/wiki/Carnosinemia url:http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. lschriml 2011-11-08T02:54:32Z GARD:10975 ICD10CM:G43.8 ICD9CM:346.8 ORDO:569 SNOMEDCT_US_2023_03_01:193037008 UMLS_CUI:C0477373 disease_ontology DOID:0060178 Xref MGI. familial hemiplegic migraine DOID:0060178 A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. url:http://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. lschriml 2011-11-08T03:21:30Z ICD10CM:Q87.5 MIM:309500 ORDO:3242 Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia syndromic X-linked mental retardation 8 disease_ontology DOID:0060179 Renpenning syndrome DOID:0060179 An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. url:http://en.wikipedia.org/wiki/Renpenning%27s_syndrome An inflammatory bowel disease that involves inflammation located_in colon. emitraka 2014-09-12T14:31:45Z EFO:0003872 ICD10CM:K52.9 MESH:D003092 NCI:C26723 SNOMEDCT_US_2023_03_01:64226004 UMLS_CUI:C0009319 disease_ontology DOID:0060180 colitis DOID:0060180 An inflammatory bowel disease that involves inflammation located_in colon. url:http://en.wikipedia.org/wiki/Colitis A colitis caused_by inadequate blood supply to the colon. emitraka 2014-09-12T14:36:51Z ICD10CM:K55.9 MESH:D017091 SNOMEDCT_US_2023_03_01:30588004 UMLS_CUI:C0162529 disease_ontology DOID:0060181 ischemic colitis DOID:0060181 A colitis caused_by inadequate blood supply to the colon. url:http://en.wikipedia.org/wiki/Ischemic_colitis url:http://www.mayoclinic.org/diseases-conditions/ischemic-colitis/basics/definition/con-20026677 A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. emitraka 2014-09-12T14:49:18Z ICD10CM:K52.83 MESH:D046728 NCI:C38504 ORDO:58220 SNOMEDCT_US_2023_03_01:235753003 UMLS_CUI:C0400821 disease_ontology DOID:0060182 microscopic colitis DOID:0060182 A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. url:http://en.wikipedia.org/wiki/Microscopic_colitis url:http://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232 url:https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis A colitis characterized by a distinctive thickening of the subepithelial collagen table. emitraka 2014-09-12T14:56:28Z GARD:6135 ICD10CM:K52.831 MEDDRA:10048928 MESH:D046729 NCI:C27021 SNOMEDCT_US_2023_03_01:19311003 UMLS_CUI:C0238067 disease_ontology DOID:0060183 Has peak incidence in the 5th decade of life, affecting women more than men and a normal colonoscopy but abnormal histopathology on biopsy. collagenous colitis DOID:0060183 A colitis characterized by a distinctive thickening of the subepithelial collagen table. url:http://en.wikipedia.org/wiki/Collagenous_colitis url:https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). emitraka 2014-09-12T14:58:50Z GARD:6939 ICD10CM:K52.832 MEDDRA:10025268 MESH:D046730 NCI:C27147 ORDO:65279 SNOMEDCT_US_2023_03_01:31437008 UMLS_CUI:C0400822 disease_ontology DOID:0060184 The peak incidence of lymphocytic colitis is in persons over age 50; the disease affects women and men equally. lymphocytic colitis DOID:0060184 A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). url:http://en.wikipedia.org/wiki/Lymphocytic_colitis url:https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts A colitis characterized by an overgrowth of Clostridium difficile bacteria. emitraka 2014-09-12T15:01:17Z ICD10CM:A04.7 MEDDRA:10009657 MESH:D004761 NCI:C128347 SNOMEDCT_US_2023_03_01:266525002 SNOMEDCT_US_2023_03_01:397683000 SNOMEDCT_US_2023_03_01:51180003 UMLS_CUI:C0014358 UMLS_CUI:C0085819 UMLS_CUI:C1257843 UMLS_CUI:C1257844 UMLS_CUI:C1257845 Pseudomembranous colitis disease_ontology DOID:0060185 Clostridium difficile colitis DOID:0060185 A colitis characterized by an overgrowth of Clostridium difficile bacteria. url:http://en.wikipedia.org/wiki/Clostridium_difficile_colitis url:http://www.nlm.nih.gov/medlineplus/ency/article/000259.htm A colitis caused_by introduction of various chemicals. emitraka 2014-09-12T15:08:50Z ICD10CM:K52 ICD9CM:558 UMLS_CUI:C0029512 disease_ontology DOID:0060186 chemical colitis DOID:0060186 A colitis caused_by introduction of various chemicals. url:http://en.wikipedia.org/wiki/Chemical_colitis url:https://www.ncbi.nlm.nih.gov/pubmed/18209577 A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy. emitraka 2014-09-12T15:14:29Z ICD10CM:K52 ICD9CM:558 UMLS_CUI:C0029512 disease_ontology DOID:0060187 diversion colitis DOID:0060187 A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy. url:http://en.wikipedia.org/wiki/Diversion_colitis url:https://www.ncbi.nlm.nih.gov/pubmed/1916483 An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas. emitraka 2014-09-15T10:51:02Z ICD10CM:K50.0 disease_ontology DOID:0060188 jejunoileitis DOID:0060188 An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas. url:http://en.wikipedia.org/wiki/Crohn%27s_disease url:https://www.ncbi.nlm.nih.gov/pubmed/15973125 An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. emitraka 2014-09-15T11:40:07Z ICD10CM:K52.9 MEDDRA:10021312 MESH:D007079 NCI:C84782 SNOMEDCT_US_2023_03_01:52457000 UMLS_CUI:C0020877 Crohn's ileitis disease_ontology DOID:0060189 ileitis DOID:0060189 An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. url:http://en.wikipedia.org/wiki/Ileitis An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. The most common type of Crohn's disease. emitraka 2014-09-15T12:22:19Z ICD10CM:K52.9 MEDDRA:10062647 disease_ontology DOID:0060190 OWL classification. ileocolitis DOID:0060190 An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. The most common type of Crohn's disease. url:https://my.clevelandclinic.org/health/diseases/9357-crohns-disease An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite. emitraka 2014-09-15T12:35:28Z ICD10CM:K50.0 upper GI Crohn's disease disease_ontology DOID:0060191 gastroduodenal Crohn's disease DOID:0060191 An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite. url:http://en.wikipedia.org/wiki/Crohn%27s_disease url:https://www.ncbi.nlm.nih.gov/pubmed/12769447 An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. emitraka 2014-09-15T12:50:24Z ICD10CM:K50.1 ICD9CM:555.1 MESH:D003424 NCI:C37262 SNOMEDCT_US_2023_03_01:7620006 UMLS_CUI:C0156147 disease_ontology DOID:0060192 OWL classification. Crohn's colitis DOID:0060192 An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. url:http://en.wikipedia.org/wiki/Crohn%27s_disease An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS. emitraka 2014-09-16T13:04:32Z ICD10CM:G12.2 MIM:105400 ALS1 amyotrophic lateral sclerosis 1 disease_ontology DOID:0060193 amyotrophic lateral sclerosis type 1 DOID:0060193 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis ALS1 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2. emitraka 2014-09-16T13:12:14Z GARD:9470 ICD10CM:G12.2 MIM:205100 ALS2 amyotrophic lateral sclerosis 2 amyotrophic lateral sclerosis 2, juvenile disease_ontology DOID:0060194 amyotrophic lateral sclerosis type 2 DOID:0060194 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/205100 ALS2 An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18. emitraka 2014-09-16T13:18:38Z GARD:10501 MIM:606640 ALS3 amyotrophic lateral sclerosis 3 disease_ontology DOID:0060195 amyotrophic lateral sclerosis type 3 DOID:0060195 An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/606640 ALS3 MIM:606640 An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9. emitraka 2014-09-16T13:49:59Z GARD:10502 ICD10CM:G12.2 MIM:602433 ORDO:357043 ALS4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs disease_ontology DOID:0060196 amyotrophic lateral sclerosis type 4 DOID:0060196 An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/602433 ALS4 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. emitraka 2014-09-16T14:17:01Z GARD:10503 MIM:602099 ALS5 amyotrophic lateral sclerosis 5 disease_ontology DOID:0060197 amyotrophic lateral sclerosis type 5 DOID:0060197 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/602099 ALS5 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16. emitraka 2014-09-16T14:21:07Z GARD:9874 MIM:608030 ALS6 amyotrophic lateral sclerosis 6, with or without frontotemporal dementia autosomal recessive amyotrophic lateral sclerosis 6 disease_ontology DOID:0060198 amyotrophic lateral sclerosis type 6 DOID:0060198 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/608030 ALS6 An amyotrophic lateral sclerosis that has_material_basis_in mutation in SOD1 gene on chromosome 20. emitraka 2014-09-16T14:28:41Z GARD:10500 MIM:608031 ALS7 amyotrophic lateral sclerosis 7 disease_ontology DOID:0060199 amyotrophic lateral sclerosis type 7 DOID:0060199 An amyotrophic lateral sclerosis that has_material_basis_in mutation in SOD1 gene on chromosome 20. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/608031 ALS7 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14. emitraka 2014-09-16T14:33:09Z GARD:10498 MIM:611895 ALS9 amyotrophic lateral sclerosis 9 disease_ontology DOID:0060200 amyotrophic lateral sclerosis type 9 DOID:0060200 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/611895 ALS9 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1. emitraka 2014-09-16T14:36:54Z GARD:10497 MIM:612069 ALS10 TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions amyotrophic lateral sclerosis 10 amyotrophic lateral sclerosis 10, with or without frontotemporal dementia disease_ontology DOID:0060201 amyotrophic lateral sclerosis type 10 DOID:0060201 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/612069 ALS10 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6. emitraka 2014-09-16T14:49:07Z GARD:10496 MIM:612577 ALS11 amyotrophic lateral sclerosis 11 disease_ontology DOID:0060202 amyotrophic lateral sclerosis type 11 DOID:0060202 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/612577 ALS11 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10. emitraka 2014-09-16T14:53:12Z MIM:613435 ALS12 amyotrophic lateral sclerosis 12 disease_ontology DOID:0060203 amyotrophic lateral sclerosis type 12 DOID:0060203 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/613435 ALS12 An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility. emitraka 2014-09-16T14:56:08Z ALS13 amyotrophic lateral sclerosis 13 disease_ontology DOID:0060204 An association between 29 or more CAG repeats and the development of ALS13 exists. amyotrophic lateral sclerosis type 13 DOID:0060204 An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/183090 ALS13 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13. emitraka 2014-09-16T15:02:22Z MIM:613954 ALS14 amyotrophic lateral sclerosis 14 amyotrophic lateral sclerosis type 14 amyotrophic lateral sclerosis, with or without frontotemporal dementia disease_ontology DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 DOID:0060205 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/613954 ALS14 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X. emitraka 2014-09-16T15:12:48Z MIM:300857 ALS15 amyotrophic lateral sclerosis 15 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia disease_ontology DOID:0060206 Described in one family only. amyotrophic lateral sclerosis type 15 DOID:0060206 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/300857 ALS15 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9. emitraka 2014-09-16T15:17:01Z MIM:614373 ALS16 amyotrophic lateral sclerosis 16 amyotrophic lateral sclerosis 16, juvenile disease_ontology DOID:0060207 amyotrophic lateral sclerosis type 16 DOID:0060207 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/614373 ALS16 amyotrophic lateral sclerosis 16, juvenile MIM:614373 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHMP2B gene on chromosome 3. emitraka 2014-09-16T15:20:50Z disease_ontology DOID:0060208 obsolete amyotrophic lateral sclerosis type 17 true DOID:0060208 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHMP2B gene on chromosome 3. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17. emitraka 2014-09-16T15:24:08Z MIM:614808 ALS18 amyotrophic lateral sclerosis 18 disease_ontology DOID:0060209 amyotrophic lateral sclerosis type 18 DOID:0060209 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/614808 ALS18 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2. emitraka 2014-09-16T15:30:22Z MIM:615515 ALS19 amyotrophic lateral sclerosis 19 disease_ontology DOID:0060210 amyotrophic lateral sclerosis type 19 DOID:0060210 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/615515 ALS19 An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12. emitraka 2014-09-16T15:34:12Z MIM:615426 ALS20 amyotrophic lateral sclerosis 20 disease_ontology DOID:0060211 amyotrophic lateral sclerosis type 20 DOID:0060211 An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/615426 ALS20 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5. emitraka 2014-09-16T16:06:31Z MIM:606070 ALS21 disease_ontology DOID:0060212 amyotrophic lateral sclerosis type 21 DOID:0060212 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5. url:http://omim.org/entry/606070 ALS21 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. emitraka 2014-09-16T16:36:24Z MIM:105550 ALSFTD FTDALS1 FTDMND amyotrophic lateral sclerosis and/or frontotemporal dementia frontotemporal dementia and/or motor neuron disease disease_ontology DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 DOID:0060213 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. url:http://omim.org/entry/105550 ALSFTD FTDALS1 FTDMND An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. emitraka 2014-09-16T16:44:08Z MIM:615911 FTDALS2 disease_ontology DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 DOID:0060214 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. url:http://omim.org/entry/615911 url:https://www.ncbi.nlm.nih.gov/pubmed/24934289 FTDALS2 A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor. emitraka 2014-09-18T15:02:17Z GARD:5885 ICD10CM:G37.0 ICD9CM:341.1 MESH:D002549 NCI:C84670 SNOMEDCT_US_2023_03_01:44875002 UMLS_CUI:C0007795 Balo disease Balo's concentric sclerosis Tumefactive multiple sclerosis disease_ontology DOID:0060215 Similar to standard multiple sclerosis. Balo concentric sclerosis DOID:0060215 A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor. url:http://en.wikipedia.org/wiki/Balo_concentric_sclerosis url:https://pubmed.ncbi.nlm.nih.gov/32140322/ url:https://www.cedars-sinai.edu/Patients/Health-Conditions/Tumefactive-Multiple-Sclerosis.aspx url:https://www.ncbi.nlm.nih.gov/articles/PMC3110404/ An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. emitraka 2014-09-22T16:29:20Z GARD:1421 ICD10CM:H16.32 MESH:D055952 ORDO:1467 SNOMEDCT_US_2023_03_01:231906002 UMLS_CUI:C0271270 Cogan's syndrome diffuse interstitual keratitis disease_ontology DOID:0060216 OWL also bilateral audiovestibular deficits. Cogan syndrome DOID:0060216 An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. url:http://en.wikipedia.org/wiki/Cogan_syndrome An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. emitraka 2014-09-23T12:31:25Z GARD:6125 MEDDRA:10059200 NCI:C84644 ORDO:98980 SNOMEDCT_US_2023_03_01:129624009 UMLS_CUI:C1168173 disease_ontology DOID:0060217 Cogan-Reese syndrome DOID:0060217 An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. url:http://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. emitraka 2014-09-24T16:30:36Z GARD:12430 ICD10CM:M34.1 MESH:D017675 NCI:C70646 SNOMEDCT_US_2023_03_01:31848007 SNOMEDCT_US_2023_03_01:62382002 UMLS_CUI:C0206138 UMLS_CUI:C1527226 disease_ontology DOID:0060218 CREST syndrome DOID:0060218 A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. url:http://en.wikipedia.org/wiki/CREST_syndrome A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. emitraka 2014-11-05T09:11:16Z lymph node adenoid cystic cancer disease_ontology DOID:0060219 lymph node adenoid cystic carcinoma DOID:0060219 A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193158/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6021008/ An urticaria induced by external physical influences. emitraka 2014-11-21T15:51:38Z disease_ontology DOID:0060220 WD correction. physical urticaria DOID:0060220 An urticaria induced by external physical influences. url:http://en.wikipedia.org/wiki/Physical_urticaria url:http://www.dermnetnz.org/reactions/urticaria.html A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. emitraka 2014-11-26T11:16:24Z GARD:6958 ICD10CM:Q78.4 MIM:614569 ORDO:163634 disease_ontology DOID:0060221 WD former synonym. Maffucci syndrome DOID:0060221 A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. url:http://en.wikipedia.org/wiki/Maffucci_syndrome url:http://ghr.nlm.nih.gov/condition/maffucci-syndrome A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. emitraka 2014-11-26T11:32:20Z GARD:12561 ICD10CM:E76.0 MIM:607016 ORDO:93474 mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V disease_ontology DOID:0060222 WD former synonym. Scheie syndrome DOID:0060222 A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. url:http://en.wikipedia.org/wiki/Scheie_syndrome An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. emitraka 2014-11-26T11:44:01Z ICD10CM:R48.8 MESH:D000381 disease_ontology DOID:0060223 agraphia MESH:D000381 DOID:0060223 An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. url:http://en.wikipedia.org/wiki/Agraphia url:https://www.ncbi.nlm.nih.gov/pubmed/21507544 A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. emitraka 2015-01-16T14:55:21Z ICD9CM:427.31 MESH:D001281 NCI:C50466 SNOMEDCT_US_2023_03_01:266306001 UMLS_CUI:C0004238 A-fib AFib disease_ontology DOID:0060224 atrial fibrillation MESH:D001281 DOID:0060224 A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. url:http://en.wikipedia.org/wiki/Atrial_fibrillation url:http://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014 url:http://www.nhlbi.nih.gov/health/health-topics/topics/af A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. emitraka 2015-01-16T15:08:40Z GARD:1118 ICD10CM:Q87.8 MIM:PS257920 ORDO:293843 craniofacial-ulnar-renal syndrome oculopalatoskeletal syndrome disease_ontology DOID:0060225 Xref MGI. 3MC syndrome DOID:0060225 A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. url:https://www.ncbi.nlm.nih.gov/pubmed/16096999 A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. emitraka 2015-01-16T15:39:56Z MESH:C538186 MIM:201180 MIM:239710 ORDO:1784 SNOMEDCT_US_2023_03_01:720408003 UMLS_CUI:C1860118 AFFN dysostosis Richieri-Costa-Colletto syndrome disease_ontology DOID:0060226 Xref MGI. acrofrontofacionasal dysostosis DOID:0060226 A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. url:http://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis url:https://www.ncbi.nlm.nih.gov/pubmed/2986457 A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. emitraka 2015-01-16T15:48:40Z GARD:5739 MIM:100300 MIM:614219 MIM:614814 MIM:615297 MIM:616028 MIM:PS100300 ORDO:974 SNOMEDCT_US_2023_03_01:34748004 UMLS_CUI:C0265268 Adams Oliver syndrome disease_ontology DOID:0060227 Xref MGI. Adams-Oliver syndrome DOID:0060227 A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. url:http://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome url:http://ghr.nlm.nih.gov/condition/adams-oliver-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/18000904 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. emitraka 2015-01-16T16:24:39Z MIM:PS105800 ORDO:231160 familial aneurysmal subarachnoid hemorrhage familial berry aneurysm familial intracranial saccular aneurysm saccular cerebral aneurysm disease_ontology DOID:0060228 Xref MGI. intracranial berry aneurysm DOID:0060228 An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. url:https://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms url:https://radiopaedia.org/articles/saccular-cerebral-aneurysm A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. emitraka 2015-01-16T16:52:25Z GARD:5279 MIM:PS243310 ORDO:2995 disease_ontology DOID:0060229 Xref MGI. Baraitser-Winter syndrome DOID:0060229 A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. url:http://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. emitraka 2015-01-22T13:09:08Z MESH:C536275 MIM:114100 MIM:213600 MIM:615007 MIM:615483 SNOMEDCT_US_2023_03_01:110997000 UMLS_CUI:C0393590 Fahr disease disease_ontology DOID:0060230 NT MGI. basal ganglia calcification DOID:0060230 A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. url:http://en.wikipedia.org/wiki/Fahr%27s_syndrome url:http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/597/viewAbstract A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. emitraka 2015-01-23T15:12:40Z ICD10CM:M21.8 MIM:259450 MIM:609220 ORDO:2771 osteogenesis imperfecta with congenital joint contractures disease_ontology DOID:0060231 NT MGI. Bruck syndrome DOID:0060231 A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. url:http://en.wikipedia.org/wiki/Bruck_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/9129737 A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. emitraka 2015-01-23T15:24:02Z GARD:10148 ICD10CM:Q87.0 MESH:C537104 MIM:120502 MIM:602588 MIM:608389 ORDO:52429 BO syndrome BOR branchiootic dysplasia disease_ontology DOID:0060232 NT MGI. branchiootic syndrome DOID:0060232 A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. url:https://www.ncbi.nlm.nih.gov/pubmed/22901925 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract BOR A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. emitraka 2015-01-23T15:37:07Z GARD:9146 ICD10CM:Q87.8 MESH:C535579 MIM:PS115150 ORDO:1340 CFC syndrome cardio-facial-cutaneous syndrome disease_ontology DOID:0060233 NT MGI. cardiofaciocutaneous syndrome DOID:0060233 A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. url:http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome url:http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. emitraka 2015-01-23T16:06:03Z GARD:6003 MESH:C563187 MIM:PS201000 NCI:C98873 ORDO:65759 SNOMEDCT_US_2023_03_01:403767009 UMLS_CUI:C1275078 acrocephalopolysyndactyly type II disease_ontology DOID:0060234 NT MGI. Carpenter syndrome DOID:0060234 An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. url:http://en.wikipedia.org/wiki/Carpenter_syndrome url:http://ghr.nlm.nih.gov/condition/carpenter-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. emitraka 2015-01-23T16:35:22Z MESH:C535589 MIM:255110 MIM:600649 MIM:608836 NCI:C114766 ORDO:157 SNOMEDCT_US_2023_03_01:238002005 UMLS_CUI:C0342790 CPT-II infantile carnitine palmitoyltransferase II deficiency late-onset carnitine palmitoyltransferase II deficiency lethal neonatal carnitine palmitoyltransferase II deficiency disease_ontology DOID:0060235 NT MGI. carnitine palmitoyltransferase II deficiency DOID:0060235 A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. url:http://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency url:http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency CPT-II A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. emitraka 2015-01-27T14:10:42Z ICD10CM:E79.8 MIM:PS278300 ORDO:3467 SNOMEDCT_US_2023_03_01:190919008 UMLS_CUI:C0220988 classic xanthinuria hereditary xanthinuria xanthine dehydrogenase deficiency xanthine oxidase deficiency disease_ontology DOID:0060236 NT MGI. xanthinuria DOID:0060236 A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. url:http://en.wikipedia.org/wiki/Xanthinuria url:https://medlineplus.gov/genetics/condition/hereditary-xanthinuria/ url:https://www.ncbi.nlm.nih.gov/pubmed/4369449 A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. emitraka 2015-01-27T14:32:30Z MESH:C536681 MIM:PS600118 ORDO:2510 UMLS_CUI:C1838625 WARBM Warburg-Sjo-Fledelius syndrome micro syndrome disease_ontology DOID:0060237 NT MGI. Warburg micro syndrome DOID:0060237 A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. url:http://en.wikipedia.org/wiki/Micro_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/22768674 WARBM A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. emitraka 2015-01-27T15:42:05Z GARD:5456 MESH:C536530 MIM:PS601390 ORDO:314679 SNOMEDCT_US_2023_03_01:763353000 UMLS_CUI:C1832390 cerebro-facio-articular syndrome disease_ontology DOID:0060238 NT MGI. Van Maldergem syndrome DOID:0060238 A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. url:https://www.ncbi.nlm.nih.gov/pubmed/1633641 A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. emitraka 2015-01-27T15:51:56Z GARD:8414 ICD10CM:Q38.0 MESH:C536528 MESH:C563529 MIM:119300 MIM:606713 NCI:C74986 ORDO:888 SNOMEDCT_US_2023_03_01:79261008 UMLS_CUI:C0175697 UMLS_CUI:C1834339 disease_ontology lip-pit syndrome DOID:0060239 NT MGI. Van der Woude syndrome DOID:0060239 A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. url:http://en.wikipedia.org/wiki/Van_der_Woude_syndrome url:http://ghr.nlm.nih.gov/condition/van-der-woude-syndrome A skin disease characterized by photosensitivity and liver spots (solar lentigines). emitraka 2015-01-27T16:00:50Z MESH:C563466 MIM:600630 MIM:614621 MIM:614640 MIM:PS600630 ORDO:178338 disease_ontology DOID:0060240 NT MGI. UV-sensitive syndrome DOID:0060240 A skin disease characterized by photosensitivity and liver spots (solar lentigines). url:http://en.wikipedia.org/wiki/UV-sensitive_syndrome url:http://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. emitraka 2015-01-27T16:10:58Z GARD:5667 MESH:C535314 MIM:273750 MIM:612921 MIM:614205 ORDO:2616 SNOMEDCT_US_2023_03_01:702342007 UMLS_CUI:C1848862 UMLS_CUI:C3280146 Le Merrer syndrome Miller-McKusick-Malvaux syndrome Yakut short stature syndrome dolichospondylic dysplasia gloomy face syndrome three M syndrome disease_ontology DOID:0060241 NT MGI. 3-M syndrome DOID:0060241 A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. url:http://en.wikipedia.org/wiki/3-M_syndrome url:http://ghr.nlm.nih.gov/condition/3-m-syndrome A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene. emitraka 2015-01-27T16:57:56Z GARD:5087 MESH:C538153 MIM:186000 MIM:608180 MIM:610234 NCI:C75003 ORDO:295195 SNOMEDCT_US_2023_03_01:715724002 UMLS_CUI:C2699746 syndactyly type 2 disease_ontology DOID:0060242 NT MGI. synpolydactyly DOID:0060242 A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene. url:http://en.wikipedia.org/wiki/Synpolydactyly url:https://www.ncbi.nlm.nih.gov/pubmed/18177473 url:https://www.ncbi.nlm.nih.gov/pubmed/8817328 An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. emitraka 2015-01-28T16:04:54Z ICD10CM:F80.81 MESH:D013342 MIM:184450 MIM:609261 MIM:614655 MIM:614668 NCI:C35043 SNOMEDCT_US_2023_03_01:191987007 SNOMEDCT_US_2023_03_01:229631007 SNOMEDCT_US_2023_03_01:29916003 UMLS_CUI:C0038131 UMLS_CUI:C0038506 UMLS_CUI:C0454542 UMLS_CUI:C0751527 UMLS_CUI:C0751528 UMLS_CUI:C0751529 UMLS_CUI:C3489627 familial persistent stuttering stammering disease_ontology DOID:0060243 NT MGI. stuttering DOID:0060243 An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. url:http://en.wikipedia.org/wiki/Stuttering url:http://www.asha.org/public/speech/disorders/stuttering.htm url:http://www.merriam-webster.com/dictionary/stutter A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. emitraka 2015-01-28T16:29:51Z MIM:606711 MIM:606712 MIM:607134 MIM:612514 MIM:615432 disease_ontology DOID:0060244 NT MGI. specific language impairment DOID:0060244 A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. url:http://en.wikipedia.org/wiki/Specific_language_impairment url:https://www.ncbi.nlm.nih.gov/pubmed/19646677 A hereditary spastic paraplegia associated with dementia. emitraka 2015-01-28T16:42:37Z ICD10CM:G11.4 MESH:C565409 MIM:248900 ORDO:101001 SPG21 autosomal recessive spastic paraplegia 21 autosomal recessive spastic paraplegia type 21 hereditary spastic paraplegia 21 disease_ontology DOID:0060245 NT MGI. Mast syndrome DOID:0060245 A hereditary spastic paraplegia associated with dementia. url:http://ghr.nlm.nih.gov/gene/SPG21 url:https://www.ncbi.nlm.nih.gov/pubmed/6024251 SPG21 A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. emitraka 2015-01-28T16:49:53Z GARD:6986 MESH:C536029 MIM:303350 NCI:C129930 ORDO:2466 SNOMEDCT_US_2023_03_01:716996008 UMLS_CUI:C0795953 CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1 disease_ontology DOID:0060246 NT MGI. MASA syndrome DOID:0060246 A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. url:http://en.wikipedia.org/wiki/MASA_syndrome url:http://ghr.nlm.nih.gov/condition/l1-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract SPG1 A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest. emitraka 2015-01-29T15:06:25Z GARD:10620 MESH:C564589 MIM:PS607326 ORDO:178355 SNOMEDCT_US_2023_03_01:715862006 UMLS_CUI:C1846431 disease_ontology DOID:0060247 NT MGI. Smith-McCort dysplasia DOID:0060247 A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest. url:https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia url:https://www.ncbi.nlm.nih.gov/pubmed/1216821 A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. emitraka 2015-01-29T15:15:46Z GARD:7649 MESH:C537340 MIM:312870 NCI:C118787 ORDO:373 UMLS_CUI:C0796154 DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome disease_ontology DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 DOID:0060248 A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. url:http://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome url:http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome url:https://pubmed.ncbi.nlm.nih.gov/36720533/ A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. emitraka 2015-01-29T15:44:16Z ICD10CM:M41.9 MESH:D012600 NCI:C78603 SNOMEDCT_US_2023_03_01:36773001 UMLS_CUI:C0036439 disease_ontology DOID:0060249 NT MGI add. scoliosis MESH:D012600 DOID:0060249 A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. url:http://en.wikipedia.org/wiki/Scoliosis url:http://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140 A scoliosis with no known cause. emitraka 2015-01-29T15:52:18Z GARD:552 disease_ontology DOID:0060250 NT MGI. idiopathic scoliosis DOID:0060250 A scoliosis with no known cause. url:http://en.wikipedia.org/wiki/Scoliosis A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. emitraka 2015-01-29T16:02:45Z GARD:4771 MESH:C537525 MIM:PS269500 NCI:C131133 ORDO:3152 SNOMEDCT_US_2023_03_01:17568006 UMLS_CUI:C0265301 disease_ontology DOID:0060251 sclerosteosis DOID:0060251 A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. url:http://en.wikipedia.org/wiki/Sclerostin#Clinical_significance url:https://www.ncbi.nlm.nih.gov/pubmed/11836356 A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. emitraka 2015-01-29T16:16:57Z MESH:C565209 MIM:181700 ORDO:91490 UMLS_CUI:C1853235 isolated congenital sclerocornea disease_ontology DOID:0060252 sclerocornea DOID:0060252 A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. url:http://en.wikipedia.org/wiki/Sclerocornea url:https://www.ncbi.nlm.nih.gov/pubmed/3994576 A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. emitraka 2015-01-29T16:35:26Z MESH:C536624 MIM:300695 disease_ontology DOID:0060253 NT MGI. scapuloperoneal myopathy DOID:0060253 A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. url:https://www.ncbi.nlm.nih.gov/pubmed/28179901 A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. emitraka 2015-01-29T16:42:52Z GARD:312 ICD10CM:Q87.19 MESH:C562492 MIM:PS268310 NCI:C85048 ORDO:97360 SNOMEDCT_US_2023_03_01:76520005 UMLS_CUI:C0265205 Robinow dwarfism acral dysostosis with facial and genital abnormalities fetal face syndrome disease_ontology DOID:0060254 NT MGI. Robinow syndrome DOID:0060254 A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. url:http://en.wikipedia.org/wiki/Robinow_syndrome url:http://ghr.nlm.nih.gov/condition/robinow-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. emitraka 2015-01-29T16:51:43Z DOID:0110302 GARD:9164 MIM:606072 ORDO:265 ORDO:97238 SNOMEDCT_US_2023_03_01:709281006 UMLS_CUI:C1853698 autosomal dominant limb-girdle muscular dystrophy type 1C disease_ontology DOID:0060255 NT MGI. rippling muscle disease 2 DOID:0060255 A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. url:http://ghr.nlm.nih.gov/condition/rippling-muscle-disease url:https://www.ncbi.nlm.nih.gov/pubmed/9537420 A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. emitraka 2015-01-30T11:04:57Z GARD:9775 MESH:C562924 MIM:179850 MIM:615327 MIM:615674 MIM:615696 ORDO:79145 SNOMEDCT_US_2023_03_01:239133004 UMLS_CUI:C0406811 UMLS_CUI:C3714534 dark dot disease reticular pigment anomaly of flexures disease_ontology DOID:0060256 NT MGI. Dowling-Degos disease DOID:0060256 A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. url:http://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures url:http://ghr.nlm.nih.gov/condition/dowling-degos-disease A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. emitraka 2015-01-30T16:08:47Z MESH:C535729 MIM:127400 NCI:C118435 ORDO:41 SNOMEDCT_US_2023_03_01:239085000 UMLS_CUI:C0406775 reticulate acropigmentation of Dohi disease_ontology DOID:0060257 NT MGI. dyschromatosis symmetrica hereditaria DOID:0060257 A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. url:http://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria url:https://www.ncbi.nlm.nih.gov/pubmed/22974014 A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. emitraka 2015-01-30T16:19:57Z MIM:615537 ORDO:178307 SNOMEDCT_US_2023_03_01:239133004 UMLS_CUI:C0406811 RAPK disease_ontology DOID:0060258 NT MGI. reticulate acropigmentation of Kitamura DOID:0060258 A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. url:https://www.ncbi.nlm.nih.gov/pubmed/22808308 RAPK A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. emitraka 2015-01-30T16:33:37Z MESH:C567142 MIM:208540 MIM:615415 ORDO:294415 Ivemark's syndrome disease_ontology DOID:0060259 renal-hepatic-pancreatic dysplasia DOID:0060259 A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. url:http://en.wikipedia.org/wiki/Renal-hepatic-pancreatic_dysplasia url:https://www.ncbi.nlm.nih.gov/pubmed/17605805 An eye disease characterized by the drooping or falling of the upper or lower eyelid. emitraka 2015-01-30T16:46:53Z ICD10CM:H02.4 ICD9CM:374.3 MESH:D001763 NCI:C27298 SNOMEDCT_US_2023_03_01:204197004 UMLS_CUI:C0005745 blepharoptosis drooping eyelid disease_ontology DOID:0060260 NT MGI add. ptosis DOID:0060260 An eye disease characterized by the drooping or falling of the upper or lower eyelid. url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 A ptosis characterized by eyelid drop present at birth. emitraka 2015-01-30T16:53:38Z ICD10CM:Q10.0 ICD9CM:743.61 MIM:178300 MIM:300245 NCI:C27049 SNOMEDCT_US_2023_03_01:204197004 UMLS_CUI:C0266573 disease_ontology DOID:0060261 NT MGI. congenital ptosis DOID:0060261 A ptosis characterized by eyelid drop present at birth. url:http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 url:https://eyewiki.aao.org/Ptosis,_Congenital A gastrointestinal system disease that is located_in the gallbladder. emitraka 2015-02-02T15:48:08Z DOID:0000000 ICD10CM:K82.9 ICD9CM:575.9 MESH:D005705 MIM:609918 MIM:609919 MIM:611465 NCI:C34631 SNOMEDCT_US_2023_03_01:155807008 UMLS_CUI:C0016977 disease_ontology DOID:0060262 Xref MGI. gallbladder disease DOID:0060262 A gastrointestinal system disease that is located_in the gallbladder. url:http://en.wikipedia.org/wiki/Gallbladder_disease A brain disease that is characterized by encephalomalacia and cystic brain lesions. emitraka 2015-02-04T14:12:00Z GARD:7430 ICD10CM:Q04.6 MESH:D065708 ORDO:2940 SNOMEDCT_US_2023_03_01:1162864000 SNOMEDCT_US_2023_03_01:38353004 SNOMEDCT_US_2023_03_01:698837003 UMLS_CUI:C0302892 UMLS_CUI:C1867983 UMLS_CUI:C3698507 disease_ontology DOID:0060263 NT MGI. porencephaly DOID:0060263 A brain disease that is characterized by encephalomalacia and cystic brain lesions. url:https://en.wikipedia.org/wiki/Cerebral_softening url:https://en.wikipedia.org/wiki/Porencephaly A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum. emitraka 2015-02-04T14:23:25Z GARD:10977 MESH:C580383 MIM:PS607596 SNOMEDCT_US_2023_03_01:45163000 UMLS_CUI:C0266468 PCH disease_ontology DOID:0060264 NT MGI add. pontocerebellar hypoplasia DOID:0060264 A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum. url:https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia#definition PCH A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene. emitraka 2015-02-04T14:28:28Z MIM:607596 ORDO:2254 disease_ontology DOID:0060265 NT MGI. pontocerebellar hypoplasia type 1A DOID:0060265 A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene. url:https://pubmed.ncbi.nlm.nih.gov/12548734/ A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene. emitraka 2015-02-04T14:28:28Z MIM:614678 ORDO:2254 disease_ontology DOID:0060266 NT MGI. pontocerebellar hypoplasia type 1B DOID:0060266 A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene. url:https://pubmed.ncbi.nlm.nih.gov/25149867/ A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. emitraka 2015-02-04T14:28:28Z GARD:10705 GARD:3631 MESH:C564738 MIM:277470 ORDO:2524 UMLS_CUI:C1848526 disease_ontology DOID:0060267 NT MGI. pontocerebellar hypoplasia type 2A DOID:0060267 A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. url:https://www.omim.org/entry/277470 A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene. emitraka 2015-02-04T14:28:28Z MESH:C567325 MIM:612389 ORDO:2524 UMLS_CUI:C2676466 disease_ontology DOID:0060268 NT MGI. pontocerebellar hypoplasia type 2B DOID:0060268 A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene. url:https://www.omim.org/entry/612389 A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene. emitraka 2015-02-04T14:28:28Z MESH:C567324 MIM:612390 ORDO:2524 UMLS_CUI:C2676465 disease_ontology DOID:0060269 NT MGI. pontocerebellar hypoplasia type 2C DOID:0060269 A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene. url:https://www.omim.org/entry/612390 A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene. emitraka 2015-02-04T14:28:28Z ICD10CM:Q04.3 MIM:613811 ORDO:2524 disease_ontology DOID:0060270 NT MGI. pontocerebellar hypoplasia type 2D DOID:0060270 A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene. url:https://www.omim.org/entry/613811 A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13. emitraka 2015-02-04T14:28:28Z MIM:615851 disease_ontology DOID:0060271 NT MGI. pontocerebellar hypoplasia type 2E DOID:0060271 A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13. url:https://pubmed.ncbi.nlm.nih.gov/24577744/ url:https://www.omim.org/entry/615851 A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene. emitraka 2015-02-04T14:28:28Z GARD:10708 MESH:C548072 MIM:608027 ORDO:97249 SNOMEDCT_US_2023_03_01:718609003 UMLS_CUI:C1842687 disease_ontology DOID:0060272 NT MGI. pontocerebellar hypoplasia type 3 DOID:0060272 A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene. url:https://pubmed.ncbi.nlm.nih.gov/19277761/ A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. emitraka 2015-02-04T14:28:28Z GARD:343 MESH:C536716 MIM:225753 ORDO:166063 SNOMEDCT_US_2023_03_01:718608006 UMLS_CUI:C1856974 disease_ontology DOID:0060273 NT MGI. pontocerebellar hypoplasia type 4 DOID:0060273 A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. url:https://pubmed.ncbi.nlm.nih.gov/18711368/ A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. emitraka 2015-02-04T14:28:28Z GARD:10709 MESH:C537745 MIM:610204 ORDO:166068 SNOMEDCT_US_2023_03_01:718607001 UMLS_CUI:C1857762 disease_ontology DOID:0060274 NT MGI. pontocerebellar hypoplasia type 5 DOID:0060274 A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. url:https://pubmed.ncbi.nlm.nih.gov/16470708/ A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene. emitraka 2015-02-04T14:28:28Z GARD:10710 MESH:C548074 MIM:611523 ORDO:166073 SNOMEDCT_US_2023_03_01:718606005 UMLS_CUI:C1969084 disease_ontology DOID:0060275 NT MGI. pontocerebellar hypoplasia type 6 DOID:0060275 A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene. url:https://pubmed.ncbi.nlm.nih.gov/17847012/ url:https://www.omim.org/entry/611523 A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene. emitraka 2015-02-04T14:28:28Z ICD10CM:Q04.3 MIM:614969 ORDO:284339 disease_ontology DOID:0060276 NT MGI. pontocerebellar hypoplasia type 7 DOID:0060276 A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene. url:https://pubmed.ncbi.nlm.nih.gov/21594990/ A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene. emitraka 2015-02-04T14:28:28Z ICD10CM:Q04.3 MIM:614961 ORDO:324569 disease_ontology DOID:0060277 NT MGI. pontocerebellar hypoplasia type 8 DOID:0060277 A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene. url:https://pubmed.ncbi.nlm.nih.gov/23023333/ A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene. emitraka 2015-02-04T14:28:28Z ICD10CM:Q04.3 MIM:615809 ORDO:369920 disease_ontology DOID:0060278 NT MGI. pontocerebellar hypoplasia type 9 DOID:0060278 A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene. url:https://pubmed.ncbi.nlm.nih.gov/23911318/ A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene. emitraka 2015-02-04T14:28:28Z MIM:615803 ORDO:411493 disease_ontology DOID:0060279 NT MGI. pontocerebellar hypoplasia type 10 DOID:0060279 A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene. url:https://pubmed.ncbi.nlm.nih.gov/24766809/ url:https://pubmed.ncbi.nlm.nih.gov/24766810/ An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. emitraka 2015-02-04T16:01:02Z GARD:10906 MIM:PS610489 ORDO:647772 UMLS_CUI:C4304832 UMLS_CUI:C5816750 PPNAD disease_ontology DOID:0060280 NT MGI. primary pigmented nodular adrenocortical disease GARD:10906 MIM:PS610489 ORDO:647772 UMLS_CUI:C4304832 UMLS_CUI:C5816750 DOID:0060280 An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. url:https://www.ncbi.nlm.nih.gov/pubmed/2212318 PPNAD An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. emitraka 2015-02-04T16:15:55Z GARD:5648 ICD10CM:G40.8 MIM:132100 MIM:609572 MIM:609573 ORDO:166409 photogenic epilepsy photoparoxysmal response disease_ontology DOID:0060281 NT MGI. photosensitive epilepsy DOID:0060281 An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. url:http://en.wikipedia.org/wiki/Photosensitive_epilepsy A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development. emitraka 2015-02-04T16:21:06Z MESH:D054514 MIM:221900 MIM:611308 NCI:C161554 ORDO:91495 SNOMEDCT_US_2023_03_01:69927002 UMLS_CUI:C0266568 disease_ontology DOID:0060282 NT MGI. persistent hyperplastic primary vitreous DOID:0060282 A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development. url:https://en.wikipedia.org/wiki/Persistent_hyperplastic_primary_vitreous A skin disease that is characterized by the painless, continuous peeling of the top layer of skin. emitraka 2015-02-04T16:28:52Z GARD:7347 MESH:C564818 MIM:PS270300 ORDO:817 SNOMEDCT_US_2023_03_01:724838009 UMLS_CUI:C1849193 deciduous skin familial continuous skin peeling syndrome keratosis exfoliativa congenita peeling skin disease disease_ontology DOID:0060283 peeling skin syndrome ICD10CM:Q80.8 GARD:7347 MIM:PS270300 ORDO:817 SNOMEDCT_US_2023_03_01:724838009 UMLS_CUI:C1849193 DOID:0060283 A skin disease that is characterized by the painless, continuous peeling of the top layer of skin. url:https://rarediseases.org/rare-diseases/peeling-skin-syndrome/ An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system. emitraka 2015-02-04T16:30:50Z GARD:7337 ICD10CM:D59.5 ICD10CM:D59.6 MESH:D006457 MIM:300818 MIM:615399 NCI:C61233 ORDO:447 SNOMEDCT_US_2023_03_01:1468004 SNOMEDCT_US_2023_03_01:154805009 SNOMEDCT_US_2023_03_01:191226006 UMLS_CUI:C0019050 UMLS_CUI:C0024790 UMLS_CUI:C0086774 disease_ontology DOID:0060284 NT MGI. paroxysmal nocturnal hemoglobinuria DOID:0060284 An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system. url:https://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene. emitraka 2015-02-04T16:36:15Z MESH:C566826 MIM:168500 MIM:609566 MIM:609597 ORDO:60015 SNOMEDCT_US_2023_03_01:718099006 UMLS_CUI:C1868598 Caitlin marks enlarged parietal foramina hereditary cranium bifidum disease_ontology DOID:0060285 NT MGI. parietal foramina DOID:0060285 An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene. url:https://ghr.nlm.nih.gov/condition/enlarged-parietal-foramina A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. emitraka 2015-02-04T16:56:52Z GARD:12893 MIM:PS609060 disease_ontology DOID:0060286 NT MGI. combined oxidative phosphorylation deficiency DOID:0060286 A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. url:https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D. emitraka 2015-02-04T17:04:28Z ICD10CM:Q13.4 MIM:121400 MIM:217300 ORDO:53691 flat cornea disease_ontology DOID:0060287 NT MGI. cornea plana DOID:0060287 A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D. url:https://disorders.eyes.arizona.edu/handouts/cornea-plana An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism. emitraka 2015-02-05T09:58:47Z MIM:PS258315 ORDO:2733 SNOMEDCT_US_2023_03_01:725164008 UMLS_CUI:C4510897 disease_ontology DOID:0060288 NT MGI. omodysplasia DOID:0060288 An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism. url:https://pubmed.ncbi.nlm.nih.gov/12210345/ A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. emitraka 2015-02-05T10:03:42Z GARD:3348 MESH:C536232 MIM:249620 MIM:300895 ORDO:2728 SNOMEDCT_US_2023_03_01:412787009 UMLS_CUI:C0796094 Ohdo blepharophimosis syndrome disease_ontology DOID:0060289 NT MGI. Ohdo syndrome DOID:0060289 A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. url:https://pubmed.ncbi.nlm.nih.gov/16700052/ A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22. emitraka 2015-02-05T10:07:12Z MESH:C536717 MIM:603736 ORDO:3047 SNOMEDCT_US_2023_03_01:699298009 UMLS_CUI:C1863557 Say-Barber-Biesecker-Young-Simpson syndrome blepharophimosis-intellectual disability syndrome, SBBYS type disease_ontology SBBYSS DOID:0060290 NT MGI. Ohdo syndrome, SBBYS variant DOID:0060290 A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22. url:https://pubmed.ncbi.nlm.nih.gov/22077973/ url:https://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndromes SBBYSS A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. emitraka 2015-02-05T10:12:23Z GARD:7239 MESH:C563160 MIM:164200 MIM:257850 ORDO:2710 SNOMEDCT_US_2023_03_01:31291009 UMLS_CUI:C0812437 ODD syndrome disease_ontology DOID:0060291 NT MGI. oculodentodigital dysplasia DOID:0060291 A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. url:http://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia url:https://en.wikipedia.org/wiki/Oculodentodigital_dysplasia url:https://www.ncbi.nlm.nih.gov/pubmed/12021949 A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22. emitraka 2015-02-05T16:35:34Z ICD10CM:Q77.3 MESH:C580533 MIM:302950 ORDO:35173 chondrodystrophia calcificans congenita disease_ontology DOID:0060292 NT MGI. X-linked chondrodysplasia punctata 1 DOID:0060292 A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22. url:https://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance. emitraka 2015-02-05T16:49:46Z ICD10CM:Q77.3 MIM:118650 MIM:118651 MIM:602497 ORDO:79344 disease_ontology DOID:0060293 NT MGI. autosomal dominant chondrodysplasia punctata DOID:0060293 A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance. url:https://www.omim.org/entry/118650 A syndrome that is characterized by profuse sweating induced by cold ambient temperature. emitraka 2015-02-06T16:10:07Z MESH:C536214 MIM:PS272430 ORDO:157820 SNOMEDCT_US_2023_03_01:725097006 UMLS_CUI:C1832409 Crisponi syndrome Sohar-Crisponi syndrome disease_ontology DOID:0060294 NT MGI. cold-induced sweating syndrome DOID:0060294 A syndrome that is characterized by profuse sweating induced by cold ambient temperature. url:http://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene. emitraka 2015-02-09T15:32:25Z GARD:1452 ICD10CM:D84.1 MIM:217000 ORDO:169147 disease_ontology DOID:0060295 NT MGI. complement component 2 deficiency DOID:0060295 A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene. url:https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency A secretory diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis that has_material_basis_in homozygous mutation in the SLC26A3 gene on chromosome 7q22-q31. emitraka 2015-02-09T16:42:50Z MESH:C536210 MIM:214700 ORDO:53689 SNOMEDCT_US_2023_03_01:24412005 UMLS_CUI:C0267662 congenital chloride diarrhea finnish type congenital chloride diarrhoea finnish type congenital chloridorrhea congenital secretory chloride diarrhoea 1 disease_ontology DOID:0060296 NT MGI. congenital secretory chloride diarrhea 1 DOID:0060296 A secretory diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis that has_material_basis_in homozygous mutation in the SLC26A3 gene on chromosome 7q22-q31. url:https://pubmed.ncbi.nlm.nih.gov/19861545/ A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency. emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 MESH:C565167 MIM:614380 ORDO:169147 disease_ontology DOID:0060297 NT MGI. complement component 4a deficiency DOID:0060297 A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency. url:https://www.omim.org/entry/614380 A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency. emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 MIM:614379 ORDO:169147 disease_ontology DOID:0060298 NT MGI. complement component 4b deficiency DOID:0060298 A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency. url:https://www.omim.org/entry/614379 A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene. emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 MESH:C567307 MIM:612446 ORDO:169150 disease_ontology DOID:0060299 NT MGI. complement component 6 deficiency DOID:0060299 A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene. url:https://www.omim.org/entry/612446 A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C7 gene. emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 MESH:C566443 MIM:610102 ORDO:1695150 disease_ontology DOID:0060300 NT MGI. complement component 7 deficiency DOID:0060300 A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C7 gene. url:https://www.omim.org/entry/610102 A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes. emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 MIM:613790 ORDO:169150 disease_ontology DOID:0060301 NT MGI. type I complement component 8 deficiency DOID:0060301 A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes. url:https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes. emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 MIM:613789 ORDO:169150 disease_ontology DOID:0060302 NT MGI. type II complement component 8 deficiency DOID:0060302 A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes. url:https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene. emitraka 2015-02-09T15:32:25Z ICD10CM:D84.1 MIM:613825 ORDO:169150 disease_ontology DOID:0060303 NT MGI. complement component 9 deficiency DOID:0060303 A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene. url:https://www.omim.org/entry/613825 A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. emitraka 2015-02-09T16:53:42Z GARD:1996 MESH:C535730 MIM:127500 MIM:612715 MIM:615402 NCI:C173131 ORDO:241 UMLS_CUI:C2930995 disease_ontology DOID:0060304 NT MGI. dyschromatosis universalis hereditaria DOID:0060304 A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. url:http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria url:https://www.ncbi.nlm.nih.gov/pubmed/12372090 A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. emitraka 2015-02-10T12:29:54Z MIM:249300 MIM:309300 ORDO:91489 SNOMEDCT_US_2023_03_01:204118005 UMLS_CUI:C0344530 anterior megalophthalmos congenital anterior megalophthalmia disease_ontology DOID:0060305 NT MGI. megalocornea DOID:0060305 A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. url:http://en.wikipedia.org/wiki/Megalocornea url:http://ghr.nlm.nih.gov/gene/CHRDL1 url:https://www.ncbi.nlm.nih.gov/pubmed/6849653 A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation. emitraka 2015-02-10T12:40:39Z GARD:2033 MESH:C538012 MIM:PS224690 ORDO:2554 SNOMEDCT_US_2023_03_01:703508009 UMLS_CUI:C1868684 ear-patella-short stature syndrome disease_ontology DOID:0060306 NT MGI. Meier-Gorlin syndrome DOID:0060306 A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation. url:http://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome url:http://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome url:https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome/ url:https://pubmed.ncbi.nlm.nih.gov/37059840/ url:https://www.ncbi.nlm.nih.gov/pubmed/14564153 A intellectual disability characterized by an autosomal dominant inheritance pattern. emitraka 2015-02-10T16:47:55Z GARD:12107 MIM:PS156200 ORDO:178469 autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation disease_ontology DOID:0060307 NT MGI. autosomal dominant intellectual developmental disorder DOID:0060307 A intellectual disability characterized by an autosomal dominant inheritance pattern. url:https://www.ncbi.nlm.nih.gov/pubmed/21124998 A intellectual disability characterized by an autosomal recessive inheritance pattern. emitraka 2015-02-11T10:32:11Z MIM:PS249500 ORDO:88616 autosomal recessive mental retardation autosomal recessive non-syndromic mental retardation disease_ontology DOID:0060308 NT MGI. autosomal recessive intellectual developmental disorder DOID:0060308 A intellectual disability characterized by an autosomal recessive inheritance pattern. url:https://www.ncbi.nlm.nih.gov/pubmed/21124998 A syndromic intellectual disability characterized by an X-linked inheritance pattern. emitraka 2015-02-11T16:14:46Z MIM:PS309510 syndromic X-linked mental retardation disease_ontology DOID:0060309 NT MGI. syndromic X-linked intellectual disability DOID:0060309 A syndromic intellectual disability characterized by an X-linked inheritance pattern. url:http://en.wikipedia.org/wiki/X-linked_intellectual_disability An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. emitraka 2015-02-16T13:26:27Z ICD10CM:K12.2 MEDDRA:10051962 acute uvulitis disease_ontology DOID:0060310 PRISM. uvulitis DOID:0060310 An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. url:http://en.wikipedia.org/wiki/Palatine_uvula#Inflammation url:https://www.ncbi.nlm.nih.gov/pubmed/8285973 An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing. emitraka 2015-02-16T13:35:56Z ICD10CM:J35.2 ICD9CM:474.12 MEDDRA:10001229 SNOMEDCT_US_2023_03_01:111591002 UMLS_CUI:C0149825 adenoidal hypertrophy enlarged adenoids disease_ontology DOID:0060311 PRISM. adenoid hypertrophy DOID:0060311 An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing. url:http://en.wikipedia.org/wiki/Adenoid_hypertrophy url:http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/oral_and_pharyngeal_disorders/adenoid_disorders.html url:http://www.nlm.nih.gov/medlineplus/ency/article/001649.htm url:https://www.ncbi.nlm.nih.gov/pubmed/21126775 A cheilitis characterized by inflammation of one or both of the corners of the mouth. emitraka 2015-02-19T15:57:00Z ICD10CM:K13.0 NCI:C112198 SNOMEDCT_US_2023_03_01:200729007 UMLS_CUI:C0221237 angular cheilosis angular stomatitis cheilosis commissural cheilitis disease_ontology DOID:0060312 PRISM. angular cheilitis DOID:0060312 A cheilitis characterized by inflammation of one or both of the corners of the mouth. url:http://en.wikipedia.org/wiki/Angular_cheilitis A tracheal disease characterized by flaccidity of the tracheal support cartilage. emitraka 2015-02-20T16:02:03Z ICD10CM:Q32.0 MESH:C557675 ORDO:95430 SNOMEDCT_US_2023_03_01:95467005 UMLS_CUI:C0392109 congenital tracheomalacia disease_ontology DOID:0060313 PRISM. tracheomalacia DOID:0060313 A tracheal disease characterized by flaccidity of the tracheal support cartilage. url:http://en.wikipedia.org/wiki/Tracheomalacia A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found. emitraka 2015-02-23T14:33:26Z PGL disease_ontology DOID:0060314 PRISM. persistent generalized lymphadenopathy DOID:0060314 A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found. url:http://en.wikipedia.org/wiki/Persistent_generalized_lymphadenopathy PGL A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus. emitraka 2015-02-23T15:55:53Z ICD10CM:K13.3 MESH:D017733 NCI:C3722 SNOMEDCT_US_2023_03_01:58918007 UMLS_CUI:C0206186 hairy leukoplakia disease_ontology DOID:0060315 oral hairy leukoplakia DOID:0060315 A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus. url:http://en.wikipedia.org/wiki/Hairy_leukoplakia An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease. emitraka 2015-03-09T17:15:07Z ICD10CM:Q87.0 MESH:D009958 MIM:311200 NCI:C75481 ORDO:2750 SNOMEDCT_US_2023_03_01:1779005 SNOMEDCT_US_2023_03_01:403773005 SNOMEDCT_US_2023_03_01:52868006 UMLS_CUI:C0026363 UMLS_CUI:C0029294 UMLS_CUI:C1510460 Papillon-Leage-Psaume syndrome orofaciodigital syndrome 1 orofaciodigital syndrome type I disease_ontology DOID:0060316 orofaciodigital syndrome I DOID:0060316 An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease. url:http://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1 url:https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid. emitraka 2015-02-23T16:58:49Z ICD10CM:J85.2 ICD9CM:513.0 MESH:D008169 NCI:C99090 SNOMEDCT_US_2023_03_01:155618005 UMLS_CUI:C0024110 disease_ontology DOID:0060317 lung abscess DOID:0060317 A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid. url:http://en.wikipedia.org/wiki/Lung_abscess An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. emitraka 2015-02-24T16:50:50Z GARD:538 ICD10CM:C92.4 MESH:D015473 MIM:612376 NCI:C3182 ORDO:520 SNOMEDCT_US_2023_03_01:28950004 UMLS_CUI:C0023487 acute myeloblastic leukaemia type 3 acute myeloblastic leukemia type 3 acute myeloid leukaemia M3 acute myeloid leukemia M3 acute promyelocytic leukaemia disease_ontology DOID:0060318 acute promyelocytic leukemia DOID:0060318 An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. url:http://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia url:http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. emitraka 2015-02-25T15:12:30Z ICD10CM:I46 ICD9CM:427.5 MESH:D006323 NCI:C50479 NCI:C50483 SNOMEDCT_US_2023_03_01:30298009 UMLS_CUI:C0018790 UMLS_CUI:C0600228 cardiopulmonary arrest circulatory arrest disease_ontology DOID:0060319 cardiac arrest DOID:0060319 A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. url:http://en.wikipedia.org/wiki/Cardiac_arrest url:http://www.nlm.nih.gov/medlineplus/cardiacarrest.html An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. emitraka 2015-02-25T15:54:50Z ICD10CM:K40 ICD9CM:550 MESH:D006552 NCI:C34690 NCI:C34691 NCI:C34692 SNOMEDCT_US_2023_03_01:155738001 SNOMEDCT_US_2023_03_01:196800008 UMLS_CUI:C0019294 UMLS_CUI:C0019295 UMLS_CUI:C0019296 disease_ontology DOID:0060320 inguinal hernia DOID:0060320 An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. url:http://en.wikipedia.org/wiki/Inguinal_hernia A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. emitraka 2015-02-25T15:58:35Z ICD10CM:Q79.2 ICD9CM:756.72 MESH:D006554 NCI:C98997 SNOMEDCT_US_2023_03_01:49324006 SNOMEDCT_US_2023_03_01:5867007 UMLS_CUI:C0795690 UMLS_CUI:C1306503 disease_ontology DOID:0060321 umbilical hernia DOID:0060321 A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. url:http://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630 url:https://en.wikipedia.org/wiki/Umbilical_hernia A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process. emitraka 2015-02-25T16:29:09Z ICD10CM:H70.9 ICD9CM:383.9 MESH:D008417 NCI:C128368 SNOMEDCT_US_2023_03_01:155230007 UMLS_CUI:C0024904 disease_ontology DOID:0060322 mastoiditis DOID:0060322 A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process. url:http://en.wikipedia.org/wiki/Mastoiditis url:http://www.nlm.nih.gov/medlineplus/ency/article/001034.htm A breast disease characterized by a collection of pus in the breast. emitraka 2015-02-25T17:21:01Z disease_ontology DOID:0060323 breast abscess DOID:0060323 A breast disease characterized by a collection of pus in the breast. url:http://en.wikipedia.org/wiki/Mastitis#Breast_abscess A tooth disease characterized by a localized collection of pus associated with a tooth. emitraka 2015-02-25T17:25:03Z ICD10CM:K04.6 disease_ontology DOID:0060324 dental abscess DOID:0060324 A tooth disease characterized by a localized collection of pus associated with a tooth. url:http://en.wikipedia.org/wiki/Dental_abscess A cervix disease characterized by a benign polyp on the surface of the cervical canal. emitraka 2015-02-25T17:33:54Z ICD10CM:D26.9 ICD9CM:219 SNOMEDCT_US_2023_03_01:189107007 UMLS_CUI:C0153996 disease_ontology DOID:0060325 cervical polyp DOID:0060325 A cervix disease characterized by a benign polyp on the surface of the cervical canal. url:http://en.wikipedia.org/wiki/Cervical_polyp A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. emitraka 2015-02-25T17:47:25Z ICD10CM:Q05 MESH:D008591 NCI:C101201 NCI:C98874 SNOMEDCT_US_2023_03_01:268308005 SNOMEDCT_US_2023_03_01:7096005 UMLS_CUI:C0025312 UMLS_CUI:C0086664 UMLS_CUI:C0751316 disease_ontology DOID:0060326 myelomeningocele DOID:0060326 A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. url:http://en.wikipedia.org/wiki/Spina_bifida#Myelomeningocele url:http://www.nlm.nih.gov/medlineplus/ency/article/001558.htm A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. emitraka 2015-02-25T17:54:05Z ICD10CM:Q79.2 ICD9CM:756.72 MESH:D006554 MIM:164750 NCI:C98997 SNOMEDCT_US_2023_03_01:49324006 SNOMEDCT_US_2023_03_01:5867007 UMLS_CUI:C0795690 UMLS_CUI:C1306503 exomphalos omphalocoele disease_ontology DOID:0060327 omphalocele DOID:0060327 A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. url:http://en.wikipedia.org/wiki/Omphalocele url:http://www.nlm.nih.gov/medlineplus/ency/article/000994.htm An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. elvira 2015-02-25T19:05:13Z ICD10CM:K60.3 MESH:D012003 disease_ontology DOID:0060328 anal fistula DOID:0060328 An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. url:http://en.wikipedia.org/wiki/Anal_fistula A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity. elvira 2015-02-25T19:27:50Z GARD:6318 ICD10CM:O00 ICD9CM:633 MESH:D011271 NCI:C34945 SNOMEDCT_US_2023_03_01:156080003 UMLS_CUI:C0032987 eccyesis disease_ontology DOID:0060329 ectopic pregnancy DOID:0060329 A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity. url:http://en.wikipedia.org/wiki/Ectopic_pregnancy url:http://www.nlm.nih.gov/medlineplus/ency/article/000895.htm An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. emitraka 2015-03-12T13:47:30Z GARD:5690 MESH:C535289 MIM:129400 ORDO:3022 RHS anhidrotic ectodermal dysplasia with cleft lip/palate ectodermal dysplasia syndrome, Rapp-Hodgkin type ectodermal dysplasia, Rapp-Hodgkin type disease_ontology DOID:0060330 Part of AEC spectrum. Research more. Rapp-Hodgkin syndrome DOID:0060330 An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. url:https://pubmed.ncbi.nlm.nih.gov/28584763/ RHS A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. emitraka 2015-03-12T16:04:59Z GARD:12965 MIM:614052 ORDO:1194 SNOMEDCT_US_2023_03_01:718212006 UMLS_CUI:C4273660 MC5DN2 neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency disease_ontology DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 DOID:0060331 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. url:http://omim.org/entry/614052 MC5DN2 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. emitraka 2015-03-12T16:04:59Z MIM:614053 MC5DN3 disease_ontology DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 DOID:0060332 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. url:https://pubmed.ncbi.nlm.nih.gov/20566710/ MC5DN3 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1. emitraka 2015-03-12T16:04:59Z MC5DN4 disease_ontology DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 DOID:0060333 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1. url:https://pubmed.ncbi.nlm.nih.gov/23599390/ url:https://pubmed.ncbi.nlm.nih.gov/34954817/ MC5DN4 A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. emitraka 2015-03-12T16:59:58Z GARD:1839 ICD10CM:P70.2 MIM:601410 MIM:610374 MIM:610582 ORDO:99886 disease_ontology DOID:0060334 transient neonatal diabetes mellitus DOID:0060334 A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. url:http://en.wikipedia.org/wiki/Transient_neonatal_diabetes_mellitus url:https://www.ncbi.nlm.nih.gov/pubmed/17349054 A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. emitraka 2015-04-16T10:44:34Z MIM:182170 disease_ontology DOID:0060335 autosomal dominant sideroblastic anemia 4 DOID:0060335 A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. url:http://en.wikipedia.org/wiki/Sideroblastic_anemia An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine. emitraka 2015-04-16T10:50:48Z ICD10CM:E71.111 MESH:C579867 MIM:PS250950 ORDO:289902 disease_ontology DOID:0060336 3-methylglutaconic aciduria DOID:0060336 An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine. url:https://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. emitraka 2015-05-11T10:31:37Z MESH:C537943 MIM:609528 ORDO:66631 SNOMEDCT_US_2023_03_01:722385008 UMLS_CUI:C1836033 cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome disease_ontology DOID:0060337 Flybase. CEDNIK syndrome DOID:0060337 A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. url:https://www.ncbi.nlm.nih.gov/pubmed/21073448 An embryonal rhabdomyosarcoma located in the parameningeal region. emitraka 2015-05-14T14:32:27Z disease_ontology DOID:0060338 parameningeal embryonal rhabdomyosarcoma DOID:0060338 An embryonal rhabdomyosarcoma located in the parameningeal region. url:https://www.ncbi.nlm.nih.gov/pubmed/10717216 url:https://www.ncbi.nlm.nih.gov/pubmed/23021437 A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). emitraka 2015-05-18T15:37:53Z MIM:616201 CAID syndrome disease_ontology DOID:0060339 chronic atrial and intestinal dysrhythmia DOID:0060339 A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). url:https://www.ncbi.nlm.nih.gov/pubmed/25282101 A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. emitraka 2015-05-21T10:41:29Z disease_ontology DOID:0060340 ciliopathy DOID:0060340 A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. url:http://en.wikipedia.org/wiki/Ciliopathy url:https://www.ncbi.nlm.nih.gov/pubmed/18178628 url:https://www.ncbi.nlm.nih.gov/pubmed/21210154 A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. emitraka 2015-05-26T16:14:08Z ICD10CM:Q18.2 MESH:C562503 MIM:202650 ORDO:990 agnathia-holoprosencephaly-situs inversus syndrome dysgnathia complex agnathia-holoprosencephaly holoprosencephaly-agnathia otocephaly disease_ontology DOID:0060341 agnathia-otocephaly complex DOID:0060341 A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. url:https://www.ncbi.nlm.nih.gov/pubmed/17438667 A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. emitraka 2015-05-26T16:44:46Z GARD:5539 MESH:C566345 MIM:603671 ORDO:1827 disease_ontology DOID:0060342 acromelic frontonasal dysostosis DOID:0060342 A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. url:https://www.ncbi.nlm.nih.gov/pubmed/15264282 An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. emitraka 2015-05-27T17:07:43Z steroid-induced osteoporosis disease_ontology DOID:0060343 glucocorticoid-induced osteoporosis DOID:0060343 An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. url:https://www.ncbi.nlm.nih.gov/pubmed/17566815 url:https://www.ncbi.nlm.nih.gov/pubmed/22870429 An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. emitraka 2015-05-28T14:45:56Z ICD9CM:701.8 SNOMEDCT_US_2023_03_01:201088002 UMLS_CUI:C0029805 Herxheimer disease primary diffuse atrophy disease_ontology DOID:0060344 acrodermatitis chronica atrophicans DOID:0060344 An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. url:http://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans url:http://www.dermis.net/dermisroot/en/35111/diagnose.htm A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs. emitraka 2015-05-28T16:26:12Z MESH:D016917 NCI:C3477 SNOMEDCT_US_2023_03_01:58213005 UMLS_CUI:C0085434 disease_ontology DOID:0060345 bacillary angiomatosis DOID:0060345 A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs. url:http://en.wikipedia.org/wiki/Bacillary_angiomatosis url:https://www.ncbi.nlm.nih.gov/pubmed/9407154 A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. emitraka 2015-06-01T17:47:31Z GARD:8432 MESH:C538343 MIM:255995 ORDO:168572 SNOMEDCT_US_2023_03_01:723439002 UMLS_CUI:C1850625 Bailey-Bloch congenital myopathy congenital myopathy 13 disease_ontology DOID:0060346 Native American myopathy DOID:0060346 A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/18553514 A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. emitraka 2015-06-04T14:51:42Z MESH:C563159 MIM:102520 MIM:201310 SNOMEDCT_US_2023_03_01:720458005 UMLS_CUI:C3495490 disease_ontology DOID:0060347 acrorenal syndrome DOID:0060347 A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. url:https://www.ncbi.nlm.nih.gov/pubmed/26019842 A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3. elvira 2015-06-19T20:05:16Z GARD:411 MESH:C537157 MIM:241410 NCI:C133727 ORDO:2323 SNOMEDCT_US_2023_03_01:1197148005 UMLS_CUI:C1855840 HRD syndrome Sanjad-Sakati syndrome hypoparathyroidism with short stature, mental retardation and seizures disease_ontology DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome DOID:0060348 A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15645691 url:https://www.ncbi.nlm.nih.gov/pubmed/24339556 A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. elvira 2015-06-24T22:12:55Z MESH:C537711 MIM:152950 ORDO:2526 UMLS_CUI:C1835265 chorioretinal dysplasia-microcephaly-mental retardation syndrome lymphedema and retinal folds with ficrocephaly and microphthalmos lymphedema, microcephaly and chorioretinopathy syndrome microcephaly lymphedema chorioretinal dysplasia microcephaly, lymphedema, chorioretinal dysplasia syndrome disease_ontology DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation DOID:0060349 A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. url:https://www.ncbi.nlm.nih.gov/pubmed/10482868 url:https://www.ncbi.nlm.nih.gov/pubmed/11302131 url:https://www.ncbi.nlm.nih.gov/pubmed/25124931 url:https://www.ncbi.nlm.nih.gov/pubmed/5936364 A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24. elvira 2015-07-02T16:06:22Z GARD:10666 GARD:546 MESH:C538228 MIM:614723 NCI:C121564 SNOMEDCT_US_2023_03_01:11852004 UMLS_CUI:C0268120 UMLS_CUI:C3665382 2,8-dihydroxyadenine urolithiasis APRT deficiency disease_ontology DOID:0060350 adenine phosphoribosyltransferase deficiency DOID:0060350 A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24. url:http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency url:https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency url:https://pubmed.ncbi.nlm.nih.gov/22700886/ url:https://pubmed.ncbi.nlm.nih.gov/8864750/ url:https://www.ncbi.nlm.nih.gov/pubmed/20150536 A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. elvira 2015-07-14T16:24:56Z MIM:615157 MC3DN2 disease_ontology DOID:0060351 mitochondrial complex III deficiency nuclear type 2 DOID:0060351 A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. url:http://www.omim.org/entry/615157 url:https://www.ncbi.nlm.nih.gov/pubmed/21278747 MC3DN2 A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. elvira 2015-07-14T16:49:09Z DOID:0070075 GARD:8672 MESH:C563043 MIM:610253 NCI:C129976 ORDO:261494 UMLS_CUI:C0795833 9q subtelomeric deletion syndrome 9q-syndrome 9q34 deletion syndrome disease_ontology DOID:0060352 Kleefstra syndrome 1 DOID:0060352 A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. url:https://en.wikipedia.org/wiki/9q34_deletion_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/15264279 url:https://www.ncbi.nlm.nih.gov/pubmed/16826528 url:https://www.ncbi.nlm.nih.gov/pubmed/21245904 An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11. elvira 2015-07-15T16:37:59Z MIM:616462 disease_ontology DOID:0060353 acrofacial dysostosis Cincinnati type DOID:0060353 An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11. url:https://www.ncbi.nlm.nih.gov/pubmed/25913037 A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern. elvira 2015-07-16T16:30:32Z MESH:C566108 MIM:185070 ORDO:3204 SNOMEDCT_US_2023_03_01:711407000 UMLS_CUI:C1861451 thrombocytopathy, asplenia and miosis disease_ontology DOID:0060354 Stormorken syndrome DOID:0060354 A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern. url:http://ghr.nlm.nih.gov/condition/stormorken-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/24619930 url:https://www.ncbi.nlm.nih.gov/pubmed/25577287 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35. elvira 2015-07-22T11:37:41Z MIM:616208 ALS22 amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia amyotrophic lateral sclerosis 22 disease_ontology DOID:0060355 amyotrophic lateral sclerosis type 22 DOID:0060355 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35. url:http://omim.org/entry/616208 ALS22 A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3. elvira 2015-08-19T16:22:27Z GARD:448 MESH:C535566 MIM:242840 NCI:C138174 ORDO:1493 SNOMEDCT_US_2023_03_01:719824001 UMLS_CUI:C1855772 immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum disease_ontology DOID:0060356 Vici syndrome DOID:0060356 A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3. url:https://en.wikipedia.org/wiki/Vici_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/21965116 url:https://www.ncbi.nlm.nih.gov/pubmed/23222957 A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. elvira 2015-08-20T12:44:44Z GARD:9683 ICD10CM:E78.3 MESH:C535460 MIM:246700 ORDO:71 SNOMEDCT_US_2023_03_01:702364003 UMLS_CUI:C0795956 Anderson disease CMRD disease_ontology DOID:0060357 chylomicron retention disease DOID:0060357 A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. url:https://en.wikipedia.org/wiki/Chylomicron_retention_disease url:https://www.ncbi.nlm.nih.gov/pubmed/10521380 url:https://www.ncbi.nlm.nih.gov/pubmed/20920215 url:https://www.ncbi.nlm.nih.gov/pubmed/3430059 url:https://www.ncbi.nlm.nih.gov/pubmed/3792776 CMRD An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. elvira 2015-08-20T16:23:47Z ICD10CM:E71.313 MESH:D054069 MIM:231680 NCI:C84907 ORDO:26791 SNOMEDCT_US_2023_03_01:22886006 UMLS_CUI:C0268596 UMLS_CUI:C1856401 UMLS_CUI:C1856403 UMLS_CUI:C1856405 MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric aciduria type 2 disease_ontology DOID:0060358 multiple acyl-CoA dehydrogenase deficiency DOID:0060358 An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. url:http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii url:https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2 url:https://www.ncbi.nlm.nih.gov/pubmed/12815589 url:https://www.ncbi.nlm.nih.gov/pubmed/22580358 MADD An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. elvira 2015-09-03T14:23:46Z GARD:115 ICD10CM:Q87.0 MESH:C537227 MIM:101120 ORDO:3128 ACPS with leg hypoplasia Sakati syndrome Sakati-Nyhan-Tisdale syndrome acrocephalopolysyndactyly Type III acrocephalopolysyndactyly type 3 disease_ontology DOID:0060359 Sakati-Nyhan syndrome DOID:0060359 An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. url:https://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. elvira 2015-09-03T14:36:52Z MESH:C566323 MIM:101840 disease_ontology DOID:0060360 hereditary papulotranslucent acrokeratoderma DOID:0060360 A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. url:https://www.ncbi.nlm.nih.gov/pubmed/16409913 A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. elvira 2015-09-03T14:50:46Z ORDO:307967 SNOMEDCT_US_2023_03_01:402773000 UMLS_CUI:C1274216 punctate palmoplantar hyperkeratosis disease_ontology punctate keratosis palmoplantaris DOID:0060361 punctate palmoplantar keratoderma DOID:0060361 A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. url:https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Punctate A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene. elvira 2015-09-03T15:31:19Z MESH:C535653 MIM:101850 ORDO:38 SNOMEDCT_US_2023_03_01:111029001 UMLS_CUI:C0545044 acrokeratoelastoidosis of Costa punctate palmoplantar hyperkeratosis type 3 punctate palmoplantar keratoderma type 3 disease_ontology DOID:0060362 punctate palmoplantar keratoderma type III DOID:0060362 A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene. url:https://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-i An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21. elvira 2015-09-17T15:45:20Z MIM:307030 ORDO:408 SNOMEDCT_US_2023_03_01:297256008 UMLS_CUI:C0574108 disease_ontology DOID:0060363 glycerol kinase deficiency DOID:0060363 An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21. url:https://en.wikipedia.org/wiki/Glycerol_kinase_deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/22427807 A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. elvira 2015-09-17T16:00:31Z MIM:251300 Galloway syndrome SCAR5 autosomal recessive spinocerebellar ataxia 5 microcephaly, hiatal hernia and nephrotic syndrome nephrosis-microcephaly syndrome nephrosis-neuronal dysmigration syndrome disease_ontology DOID:0060364 Galloway-Mowat syndrome 1 DOID:0060364 A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. url:https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome url:https://pubmed.ncbi.nlm.nih.gov/26123727/ SCAR5 A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. elvira 2015-09-17T16:20:00Z MIM:616367 MFDA disease_ontology DOID:0060365 mandibulofacial dysostosis with alopecia DOID:0060365 A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. url:https://www.ncbi.nlm.nih.gov/pubmed/25772936 MFDA A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. elvira 2015-09-17T16:36:59Z GARD:3318 MESH:C537255 MIM:235510 MIM:616006 ORDO:2136 SNOMEDCT_US_2023_03_01:234146006 UMLS_CUI:C0340834 Hennekam lymphangiectasia-lymphedema syndrome lymphedem-lymphangiectasia-intellectual disability syndrome disease_ontology DOID:0060366 Hennekam syndrome DOID:0060366 A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. url:http://ghr.nlm.nih.gov/condition/hennekam-syndrome url:https://en.wikipedia.org/wiki/Hennekam_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/14564208 url:https://www.ncbi.nlm.nih.gov/pubmed/24870712 url:https://www.ncbi.nlm.nih.gov/pubmed/2624276 A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1. elvira 2015-09-17T16:48:14Z MIM:168601 autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease 1 disease_ontology DOID:0060367 Parkinson's disease 1 DOID:0060367 A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1. url:http://www.omim.org/entry/168601 url:https://www.ncbi.nlm.nih.gov/pubmed/22315721 An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27. elvira 2015-09-17T16:56:33Z MIM:600116 Parkinson disease juvenile type 2 autosomal recessive juvenile Parkinson disease 2 autosomal recessive juvenile Parkinson's disease 2 disease_ontology DOID:0060368 Parkinson's disease 2 DOID:0060368 An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27. url:https://www.ncbi.nlm.nih.gov/pubmed/22315721 An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. elvira 2015-09-17T17:00:11Z MIM:605909 PARK6 autosomal recessive early-onset Parkinson disease 6 autosomal recessive early-onset Parkinson's disease 6 early-onset Parkinson disease 6 disease_ontology DOID:0060369 Parkinson's disease 6 DOID:0060369 An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. url:https://www.ncbi.nlm.nih.gov/pubmed/22315721 PARK6 An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. elvira 2015-09-17T17:04:57Z MIM:606324 autosomal recessive early-onset Parkinson disease 7 autosomal recessive early-onset Parkinson's disease 7 disease_ontology DOID:0060370 Parkinson's disease 7 DOID:0060370 An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/22315721 A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12. elvira 2015-09-17T17:07:35Z MIM:607060 autosomal dominant Parkinson disease 8 autosomal dominant Parkinson's disease 8 disease_ontology DOID:0060371 Parkinson's disease 8 DOID:0060371 A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12. url:https://www.ncbi.nlm.nih.gov/pubmed/22315721 An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. elvira 2015-09-17T17:13:37Z MIM:260300 Parkinsonian-pyramidal syndrome autosomal recessive early-onset Parkinson disease 15 autosomal recessive early-onset Parkinson's disease 15 pallidopyramidal syndrome disease_ontology DOID:0060372 Parkinson's disease 15 DOID:0060372 An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/22315721 An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance. elvira 2015-09-18T14:58:32Z MESH:C557817 MIM:258850 ORDO:2752 SNOMEDCT_US_2023_03_01:239030004 UMLS_CUI:C0406726 Sugarman syndrome disease_ontology DOID:0060373 orofaciodigital syndrome III DOID:0060373 An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance. url:https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3 An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene. elvira 2015-09-18T15:00:19Z MESH:C537133 MIM:258860 ORDO:2753 SNOMEDCT_US_2023_03_01:239031000 UMLS_CUI:C0406727 Baraitser-Burn syndrome OFD4 disease_ontology DOID:0060374 orofaciodigital syndrome IV DOID:0060374 An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene. url:https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4 OFD4 An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32. elvira 2015-09-18T15:00:19Z MESH:C557819 MIM:174300 ORDO:2919 SNOMEDCT_US_2023_03_01:722105002 UMLS_CUI:C1868118 OFD5 orofaciodigital syndrome Thurston type polydactyly, postaxial, with median cleft of upper lip disease_ontology DOID:0060375 orofaciodigital syndrome V DOID:0060375 An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32. url:https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5 url:https://www.ncbi.nlm.nih.gov/pubmed/23972372 OFD5 A Joubert syndrome that is characterized by orofaciodigital defect. elvira 2015-09-18T15:00:19Z GARD:4412 MESH:C536531 MIM:277170 NCI:C124841 ORDO:2754 SNOMEDCT_US_2023_03_01:721873007 UMLS_CUI:C2745997 OFD6 Polydactyly cleft lip palate psychomotor retardation Varadi syndrome Varadi-Papp syndrome orofaciodigital syndrome VI disease_ontology DOID:0060376 Joubert syndrome with orofaciodigital defect DOID:0060376 A Joubert syndrome that is characterized by orofaciodigital defect. url:https://www.ncbi.nlm.nih.gov/pubmed/23716954 OFD6 An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance. elvira 2015-09-18T15:00:19Z MESH:C563104 MIM:608518 ORDO:90649 OFD7 Whelan syndrome disease_ontology DOID:0060377 orofaciodigital syndrome VII DOID:0060377 An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance. url:https://pubmed.ncbi.nlm.nih.gov/14598343/ OFD7 An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance. elvira 2015-09-18T15:00:19Z MESH:C557820 MIM:300484 ORDO:2755 SNOMEDCT_US_2023_03_01:722106001 UMLS_CUI:C0796101 OFD8 disease_ontology DOID:0060378 orofaciodigital syndrome VIII DOID:0060378 An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance. url:https://rarediseases.info.nih.gov/diseases/4060/orofaciodigital-syndrome-8 OFD8 A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. elvira 2015-09-21T15:24:28Z disease_ontology DOID:0060379 acrofacial dysostosis DOID:0060379 A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. url:https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones. elvira 2015-09-18T15:00:20Z ICD10CM:Q87.0 MESH:C563491 MIM:165590 ORDO:2756 OFD10 orofaciodigital syndrome with fibular aplasia disease_ontology DOID:0060380 orofaciodigital syndrome X DOID:0060380 An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones. url:https://pubmed.ncbi.nlm.nih.gov/8261648/ OFD10 An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects. elvira 2015-09-18T15:00:20Z MESH:C557821 MIM:612913 ORDO:141000 SNOMEDCT_US_2023_03_01:718681002 UMLS_CUI:C2752048 disease_ontology DOID:0060381 orofaciodigital syndrome XI DOID:0060381 An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects. url:https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11 An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance. elvira 2015-09-18T15:24:17Z GARD:10520 MESH:C557818 MIM:258865 ORDO:141007 SNOMEDCT_US_2023_03_01:718680001 UMLS_CUI:C0796102 OFD9 orofaciodigital syndrome with retinal abnormalities disease_ontology DOID:0060382 orofaciodigital syndrome IX DOID:0060382 An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance. url:https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9 url:https://www.ncbi.nlm.nih.gov/pubmed/18000902 OFD9 An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance. elvira 2015-09-21T15:30:41Z GARD:496 MESH:C538183 MIM:201170 ORDO:1788 SNOMEDCT_US_2023_03_01:720430002 UMLS_CUI:C1860119 acrofacial dysostosis, syndrome of Rodriguez disease_ontology DOID:0060383 acrofacial dysostosis Rodriguez type DOID:0060383 An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance. url:https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. elvira 2015-09-21T15:34:09Z GARD:494 MESH:C538182 MIM:101805 ORDO:1786 SNOMEDCT_US_2023_03_01:720419000 UMLS_CUI:C2931762 Opitz Mollica Sorge syndrome Opitz-Caltabiano syndrome disease_ontology DOID:0060384 acrofacial dysostosis, Catania type DOID:0060384 An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. url:https://rarediseases.info.nih.gov/diseases/494/acrofacial-dysostosis-catania-type An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance. elvira 2015-09-21T15:38:31Z MESH:C538185 MIM:601829 ORDO:1787 SNOMEDCT_US_2023_03_01:720429007 UMLS_CUI:C1866168 disease_ontology DOID:0060385 acrofacial dysostosis, Patagonia type DOID:0060385 An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance. url:https://pubmed.ncbi.nlm.nih.gov/9098488/ A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene. elvira 2015-09-22T17:10:37Z MESH:C535924 MIM:610448 MIM:614415 ORDO:90280 UMLS_CUI:C0024145 disease_ontology DOID:0060386 Chilblain lupus DOID:0060386 A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene. url:https://www.omim.org/entry/610448 An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene. elvira 2015-09-24T16:23:12Z GARD:914 MESH:C537914 MIM:215045 NCI:C131420 ORDO:50945 UMLS_CUI:C1859148 Blomstrand lethal chondrodysplasia disease_ontology DOID:0060387 chondrodysplasia Blomstrand type DOID:0060387 An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene. url:https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type A chromosomal disease that has_material_basis_in partial deletion of chromosomes. elvira 2015-09-28T15:48:41Z disease_ontology DOID:0060388 chromosomal deletion syndrome DOID:0060388 A chromosomal disease that has_material_basis_in partial deletion of chromosomes. url:https://en.wikipedia.org/wiki/Chromosomal_deletion_syndrome url:https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome url:https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/ url:https://www.ncbi.nlm.nih.gov/books/NBK23758/ A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2. elvira 2015-09-28T15:50:18Z MESH:C567385 MIM:612242 disease_ontology DOID:0060389 chromosome 10q23 deletion syndrome DOID:0060389 A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2. url:https://pubmed.ncbi.nlm.nih.gov/21248748 A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10. elvira 2015-09-28T16:08:42Z ICD10CM:Q93.5 MESH:C567182 MIM:609625 ORDO:96148 chromosome 10q26 deletion syndrome distal monosomy 10q monosomy 10qter telomeric deletion 10q terminal chromosome 10q26 deletion syndrome disease_ontology DOID:0060390 distal 10q deletion syndrome DOID:0060390 A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10. url:https://rarediseases.info.nih.gov/diseases/3711/chromosome-10q-deletion A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13. elvira 2015-09-28T16:14:46Z ICD10CM:Q93.5 MIM:613884 ORDO:1587 deletion 13q14 disease_ontology DOID:0060391 chromosome 13q14 deletion syndrome DOID:0060391 A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13. url:https://rarediseases.org/rare-diseases/chromosome-13-partial-monosomy-13q/ A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14. elvira 2015-09-28T16:18:44Z MIM:613457 ORDO:261120 14q11.2 microdeletion syndrome disease_ontology DOID:0060392 chromosome 14q11-q22 deletion syndrome DOID:0060392 A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14. url:https://pubmed.ncbi.nlm.nih.gov/21744488 A chromosomal deletion syndrome that is characterized by intellectual disability, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. elvira 2015-09-28T16:21:07Z MIM:615656 ORDO:261183 UMLS_CUI:C3180937 15q11.2 microdeletion syndrome disease_ontology DOID:0060393 chromosome 15q11.2 deletion syndrome DOID:0060393 A chromosomal deletion syndrome that is characterized by intellectual disability, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. url:https://www.omim.org/entry/615656 A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. elvira 2015-09-28T16:23:21Z GARD:10296 ICD10CM:Q93.5 MESH:C567439 MIM:612001 ORDO:199318 15q13.3 microdeletion syndrome disease_ontology DOID:0060394 chromosome 15q13.3 microdeletion syndrome DOID:0060394 A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. url:https://rarediseases.info.nih.gov/diseases/10296/15q133-microdeletion-syndrome A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15. elvira 2015-09-28T16:25:55Z GARD:12219 ICD10CM:Q93.5 MESH:C579849 MIM:613406 ORDO:94065 15q24 microdeletion syndrome disease_ontology DOID:0060395 chromosome 15q24 deletion syndrome DOID:0060395 A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15. url:https://www.omim.org/entry/613406 A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15. elvira 2015-09-28T16:28:12Z MIM:614294 disease_ontology DOID:0060396 chromosome 15q25 deletion syndrome DOID:0060396 A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15. url:https://rarediseases.info.nih.gov/diseases/10990/chromosome-15q252-microdeletion A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia. elvira 2015-09-28T16:30:51Z ICD10CM:Q93.5 MESH:C567232 MIM:612626 ORDO:1596 15q26 deletion syndrome Drayer syndrome distal 15q deletion syndrome distal monosomy 15q telomeric 15q deletion syndrome disease_ontology DOID:0060397 chromosome 15q26-qter deletion syndrome DOID:0060397 A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia. url:https://pubmed.ncbi.nlm.nih.gov/18651844 A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene. elvira 2015-09-28T16:35:34Z MIM:613444 ORDO:261222 UMLS_CUI:C3150701 UMLS_CUI:C4518824 distal 16p11.2 microdeletion syndrome disease_ontology DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb ICD10CM:Q93.5 MIM:613444 ORDO:261222 UMLS_CUI:C3150701 UMLS_CUI:C4518824 DOID:0060398 A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene. url:https://pubmed.ncbi.nlm.nih.gov/20808231 A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects. elvira 2015-09-28T16:36:57Z MIM:136570 disease_ontology DOID:0060399 chromosome 16p12.1 deletion syndrome DOID:0060399 A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects. url:https://www.ncbi.nlm.nih.gov/pubmed/20154674 A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. elvira 2015-09-28T16:42:38Z ICD10CM:Q93.5 MIM:613604 ORDO:261211 16p11.2-p12.2 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome disease_ontology DOID:0060400 chromosome 16p12.2-p11.2 deletion syndrome DOID:0060400 A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. url:https://pubmed.ncbi.nlm.nih.gov/19449418 A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck. elvira 2015-09-28T16:46:03Z MIM:614541 disease_ontology DOID:0060401 chromosome 16q22 deletion syndrome DOID:0060401 A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck. url:https://www.ncbi.nlm.nih.gov/pubmed/1605249 A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. elvira 2015-09-28T16:49:53Z GARD:10996 MESH:D054221 MIM:613776 disease_ontology DOID:0060402 chromosome 17p13.1 deletion syndrome DOID:0060402 A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. url:https://pubmed.ncbi.nlm.nih.gov/19617690 A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. elvira 2015-09-28T16:52:05Z ICD10CM:Q85.0 MESH:C563524 MIM:613675 ORDO:97685 17q11 microdeletion syndrome NF1 microdeletion syndrome Van Asperen syndrome neurofibromatosis type 1 microdeletion syndrome disease_ontology DOID:0060403 chromosome 17q11.2 deletion syndrome DOID:0060403 A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. url:https://pubmed.ncbi.nlm.nih.gov/10631140/ A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. elvira 2015-09-28T16:55:38Z GARD:13297 ICD10CM:Q93.5 MIM:614527 ORDO:261265 17q12 microdeletion syndrome disease_ontology DOID:0060404 chromosome 17q12 deletion syndrome DOID:0060404 A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. url:https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. elvira 2015-09-28T16:58:27Z GARD:10936 ICD10CM:Q93.5 MIM:613355 ORDO:261279 17q23.1-q23.2 microdeletion syndrome 17q23.1q23.2 microdeletion syndrome disease_ontology DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome DOID:0060405 A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. url:https://pubmed.ncbi.nlm.nih.gov/20598276 A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18. elvira 2015-09-28T17:01:47Z GARD:8631 MESH:C538309 MIM:146390 NCI:C84521 ORDO:1598 SNOMEDCT_US_2023_03_01:205632001 UMLS_CUI:C0432442 18p- syndrome De Grouchy syndrome monosomy 18p disease_ontology DOID:0060406 chromosome 18p deletion syndrome DOID:0060406 A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18. url:https://pubmed.ncbi.nlm.nih.gov/16691587 A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations. elvira 2015-09-28T17:05:53Z ICD10CM:Q93.5 MESH:C536580 MIM:601808 ORDO:1600 18q- syndrome deletion 18q monosomy 18q disease_ontology DOID:0060407 chromosome 18q deletion syndrome DOID:0060407 A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations. url:https://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome url:https://ghr.nlm.nih.gov/condition/proximal-18q-deletion-syndrome A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. elvira 2015-09-28T17:09:44Z GARD:10592 MESH:C567810 MIM:613026 ORDO:217346 UMLS_CUI:C2751651 19q13.11 microdeletion syndrome monosomy 19q13.11 disease_ontology DOID:0060408 chromosome 19q13.11 deletion syndrome DOID:0060408 A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. url:https://pubmed.ncbi.nlm.nih.gov/24243649 A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia. elvira 2015-09-28T17:12:14Z ICD10CM:Q93.5 MESH:C535594 MIM:613735 ORDO:401986 1p31p32 microdeletion syndrome Chromosome 1, Monosomy 1p32 brain malformations with or without urinary tract defects chromosome 1p32-p31 deletion syndrome disease_ontology DOID:0060409 NFIA-related disorder DOID:0060409 A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia. url:https://www.ncbi.nlm.nih.gov/books/NBK542336/ A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears. elvira 2015-09-28T17:14:10Z GARD:6082 MESH:C535362 MIM:607872 NCI:C74983 ORDO:1606 SNOMEDCT_US_2023_03_01:699306003 UMLS_CUI:C1842870 1p36 deletion syndrome deletion 1p36 monosomy 1p36 disease_ontology subtelomeric 1p36 deletion DOID:0060410 chromosome 1p36 deletion syndrome DOID:0060410 A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears. url:https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. elvira 2015-09-28T17:17:38Z GARD:10813 ICD10CM:Q93.5 MIM:612474 ORDO:250989 1q21.1 microdeletion syndrome disease_ontology monosomy 1q21.1 DOID:0060411 chromosome 1q21.1 deletion syndrome DOID:0060411 A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. url:https://ghr.nlm.nih.gov/condition/1q211-microdeletion A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region. elvira 2015-09-28T17:24:43Z GARD:3738 ICD10CM:Q93.5 MIM:612530 ORDO:250999 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome disease_ontology DOID:0060412 chromosome 1q41-q42 deletion syndrome DOID:0060412 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region. url:https://pubmed.ncbi.nlm.nih.gov/16736036/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome. elvira 2015-09-28T17:28:28Z MESH:C567511 MIM:611867 ORDO:261330 DiGeorge syndrome and Velocardiofacial syndrome distal 22q11.2 microdeletion syndrome disease_ontology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal DOID:0060413 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome. url:https://pubmed.ncbi.nlm.nih.gov/18179902/ url:https://research.nhgri.nih.gov/atlas/condition/22q11-2-deletion-syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region. elvira 2015-09-28T17:31:12Z MIM:613564 disease_ontology DOID:0060414 chromosome 2p12-p11.2 deletion syndrome DOID:0060414 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region. url:https://pubmed.ncbi.nlm.nih.gov/19764038/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. elvira 2015-09-28T17:32:44Z GARD:13391 ICD10CM:Q93.5 MESH:C567289 MIM:612513 ORDO:261349 2p15p16.1 microdeletion syndrome disease_ontology 2p15-p16.1 microdeletion syndrome DOID:0060415 chromosome 2p16.1-p15 deletion syndrome DOID:0060415 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. url:https://pubmed.ncbi.nlm.nih.gov/26019277/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region. elvira 2015-09-28T17:36:55Z MESH:C567344 MIM:612345 disease_ontology DOID:0060416 chromosome 2q31.2 deletion syndrome DOID:0060416 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region. url:https://pubmed.ncbi.nlm.nih.gov/19248183/ A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. elvira 2015-09-28T17:38:32Z ICD10CM:Q93.5 MIM:613792 ORDO:1620 chromosome 3pter-P25 deletion syndrome distal monosomy 3p disease_ontology DOID:0060417 3p deletion syndrome DOID:0060417 A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. url:https://ghr.nlm.nih.gov/condition/3p-deletion-syndrome url:https://pubmed.ncbi.nlm.nih.gov/19760623 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia. elvira 2015-09-28T17:42:28Z MESH:C536808 MIM:615433 ORDO:1621 SNOMEDCT_US_2023_03_01:726705007 UMLS_CUI:C2931338 3q13 microdeletion syndrome monosomy 3q13 disease_ontology DOID:0060418 chromosome 3q13.31 deletion syndrome DOID:0060418 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia. url:https://pubmed.ncbi.nlm.nih.gov/22180640/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region. elvira 2015-09-28T17:45:50Z GARD:11974 MESH:C567184 MIM:609425 ORDO:65286 3q subtelomere deletion syndrome 3q29 microdeletion syndrome 3q29 recurrent deletion 3qter deletion disease_ontology DOID:0060419 chromosome 3q29 microdeletion syndrome DOID:0060419 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region. url:https://ghr.nlm.nih.gov/condition/3q29-microdeletion-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK385289/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region. elvira 2015-09-28T17:49:18Z MIM:613509 ORDO:238750 4q21 microdeletion syndrome monosomy 4q21 disease_ontology DOID:0060420 chromosome 4q21 deletion syndrome DOID:0060420 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region. url:https://pubmed.ncbi.nlm.nih.gov/20522426/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region. elvira 2015-09-28T17:52:47Z MIM:615668 disease_ontology DOID:0060421 chromosome 5q12 deletion syndrome DOID:0060421 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region. url:https://pubmed.ncbi.nlm.nih.gov/24203977/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region. elvira 2015-09-28T17:55:16Z ICD10CM:Q93.5 MESH:C567239 MIM:612582 ORDO:96125 6p subtelomeric deletion syndrome 6p25 microdeletion syndrome distal monosomy 6p disease_ontology DOID:0060422 chromosome 6pter-p24 deletion syndrome DOID:0060422 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region. url:https://pubmed.ncbi.nlm.nih.gov/18629875/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate. elvira 2015-09-28T17:58:28Z MIM:613544 disease_ontology DOID:0060423 chromosome 6q11-q14 deletion syndrome DOID:0060423 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate. url:https://pubmed.ncbi.nlm.nih.gov/19213033/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region. elvira 2015-09-28T17:59:36Z MIM:612863 ORDO:251056 6q25 microdeletion syndrome monosomy 6q25 disease_ontology DOID:0060424 chromosome 6q24-q25 deletion syndrome DOID:0060424 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region. url:https://pubmed.ncbi.nlm.nih.gov/17512813/ A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features. elvira 2015-09-28T18:06:23Z ICD10CM:Q93.5 MIM:614230 ORDO:284160 8q21.11 microdeletion syndrome disease_ontology DOID:0060425 chromosome 8q21.11 deletion syndrome DOID:0060425 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features. url:https://pubmed.ncbi.nlm.nih.gov/21802062/ A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity. elvira 2015-09-29T15:26:36Z MIM:613638 disease_ontology DOID:0060426 chromosome 19p13.13 deletion syndrome DOID:0060426 A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity. url:https://ghr.nlm.nih.gov/condition/19p1313-deletion-syndrome A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region. elvira 2015-09-29T16:13:28Z ICD10CM:Q99.8 MIM:300679 ORDO:261476 Xp21 microdeletion syndrome complex glycerol kinase deficiency monosomy Xp21 disease_ontology DOID:0060427 chromosome Xp21 deletion syndrome DOID:0060427 A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region. url:https://pubmed.ncbi.nlm.nih.gov/17089405/ A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2. elvira 2015-10-01T15:37:11Z ICD10CM:Q93.5 MESH:C567350 MIM:612313 ORDO:251019 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome Glass syndrome chromosome 2q32-q33 deletion syndrome monosomy 2q32 monosomy 2q32-q33 monosomy 2q32q33 disease_ontology DOID:0060428 SATB2-associated syndrome DOID:0060428 A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2. url:https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK458647/ A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. elvira 2015-10-02T15:19:23Z disease_ontology DOID:0060429 chromosomal duplication syndrome DOID:0060429 A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. url:https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/ A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language. elvira 2015-10-02T15:19:40Z ICD10CM:Q92.3 MIM:614671 ORDO:370079 proximal 16p11.2 microduplication syndrome proximal dup(16)(p11.2) proximal trisomy 16p11.2 disease_ontology DOID:0060430 chromosome 16p11.2 duplication syndrome DOID:0060430 A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language. url:https://ghr.nlm.nih.gov/condition/16p112-duplication A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region. elvira 2015-10-02T15:43:05Z ICD10CM:Q92.3 MIM:613458 ORDO:96078 16p13.3 microduplication syndrome distal duplication 16p distal trisomy 16p telomeric duplication 16p disease_ontology DOID:0060431 chromosome 16p13.3 duplication syndrome DOID:0060431 A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region. url:https://pubmed.ncbi.nlm.nih.gov/19833603/ A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3. elvira 2015-10-02T15:45:43Z ICD10CM:Q92.3 MESH:C567705 MIM:613215 ORDO:217385 17p13.3 duplication syndrome 17p13.3 microduplication syndrome chromosome 17p13.3 centromeric duplication syndrome trisomy 17p13.3 disease_ontology DOID:0060432 chromosome 17p13.3 duplication syndrome DOID:0060432 A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3. url:https://pubmed.ncbi.nlm.nih.gov/19136950/ A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region. elvira 2015-10-02T15:49:05Z GARD:13296 ICD10CM:Q92.3 MIM:614526 ORDO:261272 17q12 microduplication syndrome trisomy 17q12 disease_ontology DOID:0060433 chromosome 17q12 duplication syndrome DOID:0060433 A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region. url:https://ghr.nlm.nih.gov/condition/17q12-duplication url:https://www.ncbi.nlm.nih.gov/books/NBK344340/ A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region. elvira 2015-10-02T15:50:26Z ICD10CM:Q92.3 MIM:613533 ORDO:217340 17q21.31 microduplication syndrome trisomy 17q21.31 disease_ontology DOID:0060434 chromosome 17q21.31 duplication syndrome DOID:0060434 A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region. url:https://pubmed.ncbi.nlm.nih.gov/19502243/ A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region. elvira 2015-10-02T16:58:42Z GARD:10591 ICD10CM:Q92.3 MESH:C567290 MIM:612475 ORDO:250994 1q21.1 microduplication syndrome trisomy 1q21.1 disease_ontology DOID:0060435 chromosome 1q21.1 duplication syndrome DOID:0060435 A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region. url:https://ghr.nlm.nih.gov/condition/1q211-microduplication A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region. elvira 2015-10-02T17:02:03Z ICD10CM:Q92.3 MESH:C567224 MIM:608363 ORDO:1727 22q11.2 microduplication syndrome duplication 22q11.2 trisomy 22q11.2 disease_ontology DOID:0060436 chromosome 22q11.2 microduplication syndrome DOID:0060436 A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region. url:https://ghr.nlm.nih.gov/condition/22q112-duplication A chromosomal duplication syndrome that has_material_basis_in heterozygous interstitial duplication in chromosome 22q13 involving the SHANK3 gene. elvira 2015-10-02T17:11:03Z MIM:615538 disease_ontology DOID:0060437 chromosome 22q13 duplication syndrome DOID:0060437 A chromosomal duplication syndrome that has_material_basis_in heterozygous interstitial duplication in chromosome 22q13 involving the SHANK3 gene. url:https://pubmed.ncbi.nlm.nih.gov/24153177/ An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. elvira 2015-10-06T16:24:18Z MESH:C535963 MIM:112240 MIM:616294 NCI:C130985 ORDO:2050 disease_ontology DOID:0060438 Cole-Carpenter syndrome DOID:0060438 An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. url:https://www.ncbi.nlm.nih.gov/pubmed/10842295 An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. elvira 2015-10-13T15:04:00Z GARD:3335 MESH:C562687 MIM:222700 NCI:C121563 ORDO:470 SNOMEDCT_US_2023_03_01:13138006 UMLS_CUI:C0268647 LPI dibasic amino aciduria II hyperdibasic aminoaciduria disease_ontology DOID:0060439 lysinuric protein intolerance DOID:0060439 An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. url:http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance url:http://www.ncbi.nlm.nih.gov/books/NBK1361/ url:https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance url:https://www.ncbi.nlm.nih.gov/pubmed/1155480 LPI A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane. elvira 2015-10-16T16:37:13Z disease_ontology DOID:0060440 epithelial and subepithelial dystrophy DOID:0060440 A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane. url:https://www.ncbi.nlm.nih.gov/pubmed/19236704 A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q. elvira 2015-10-16T16:39:25Z disease_ontology DOID:0060441 epithelial-stromal TGFBI dystrophy DOID:0060441 A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q. url:https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm A corneal dystrophy that affects the corneal stroma. elvira 2015-10-16T16:39:25Z disease_ontology DOID:0060442 stromal dystrophy DOID:0060442 A corneal dystrophy that affects the corneal stroma. url:https://www.ncbi.nlm.nih.gov/pubmed/19236704 A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane. elvira 2015-10-16T16:39:25Z endothelial dystrophy disease_ontology DOID:0060443 corneal endothelial dystrophy DOID:0060443 A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane. url:https://www.ncbi.nlm.nih.gov/pubmed/19236704 An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface. elvira 2015-10-16T16:44:27Z MESH:C535474 MIM:607541 ORDO:98963 SNOMEDCT_US_2023_03_01:397568004 UMLS_CUI:C1275685 CGD2 avellino corneal dystrophy combined granular-lattice corneal dystrophy corneal dystrophy, Avellino type granular corneal dystrophy type 2 disease_ontology DOID:0060444 granular corneal dystrophy 2 DOID:0060444 An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface. url:https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm url:https://www.omim.org/entry/607541 CGD2 A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. elvira 2015-10-16T17:09:23Z ICD10CM:H18.5 MESH:C566452 MIM:610048 ORDO:101068 CSCD congenital hereditary stromal dystrophy disease_ontology DOID:0060445 congenital stromal corneal dystrophy DOID:0060445 A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. url:https://ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy url:https://www.ncbi.nlm.nih.gov/books/NBK2690/ CSCD A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. elvira 2015-10-16T17:13:34Z ICD10CM:H18.5 MESH:C567587 MIM:300779 ORDO:293621 XECD disease_ontology DOID:0060446 X-linked endothelial corneal dystrophy DOID:0060446 A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. url:https://pubmed.ncbi.nlm.nih.gov/16490493/ XECD An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. elvira 2015-10-16T17:17:01Z ICD10CM:H18.5 MESH:C535477 MIM:121820 ORDO:98956 Cogan corneal dystrophy EBMD microcystic corneal dystrophy disease_ontology DOID:0060447 epithelial basement membrane dystrophy DOID:0060447 An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. url:https://pubmed.ncbi.nlm.nih.gov/16652336/ EBMD A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34. elvira 2015-10-16T17:20:34Z MESH:C563256 MIM:121850 ORDO:98970 SNOMEDCT_US_2023_03_01:417183007 UMLS_CUI:C1562113 FCD Francois-Neetens speckled corneal dystrophy disease_ontology DOID:0060448 Fleck corneal dystrophy DOID:0060448 A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34. url:https://pubmed.ncbi.nlm.nih.gov/23288988/ url:https://pubmed.ncbi.nlm.nih.gov/26396486 FCD An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. elvira 2015-10-16T17:26:37Z MESH:C535480 MIM:204870 NCI:C142805 ORDO:98957 SNOMEDCT_US_2023_03_01:419900000 UMLS_CUI:C0339273 GDCD corneal amyloidosis primary familial amyloidosis of the cornea subepithelial amyloidosis of the cornea disease_ontology DOID:0060449 gelatinous drop-like corneal dystrophy DOID:0060449 An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. url:https://pubmed.ncbi.nlm.nih.gov/10192395/ GDCD An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19. elvira 2015-10-16T17:42:58Z ICD10CM:H18.5 MESH:C567588 MIM:620763 ORDO:98955 LECD band-shaped and whorled microcystic disease_ontology DOID:0060450 Lisch epithelial corneal dystrophy DOID:0060450 An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19. url:https://pubmed.ncbi.nlm.nih.gov/11024418/ url:https://pubmed.ncbi.nlm.nih.gov/37972748/ LECD An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium. elvira 2015-10-16T17:45:27Z GARD:9688 ICD10CM:H18.52 ICD9CM:371.51 MESH:D053559 MIM:PS122100 NCI:C84795 ORDO:98954 SNOMEDCT_US_2023_03_01:193833008 UMLS_CUI:C0339277 MECD Stocker-Holt dystrophy juvenile hereditary epithelial dystrophy disease_ontology DOID:0060451 Meesmann corneal dystrophy DOID:0060451 An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium. url:https://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy MECD A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome. elvira 2015-10-16T17:48:04Z ICD10CM:H18.5 MESH:C567546 MIM:612868 ORDO:98971 PACD chromosome 12q21.33 deletion syndrome disease_ontology DOID:0060452 posterior amorphous corneal dystrophy DOID:0060452 A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome. url:https://pubmed.ncbi.nlm.nih.gov/27096414/ PACD An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. elvira 2015-10-16T17:51:03Z MESH:C535476 MIM:608470 ORDO:98961 SNOMEDCT_US_2023_03_01:231930000 UMLS_CUI:C0339278 RBCD anterior limiting membrane dystrophy type I corneal dystrophy of Bowman layer type I geographic corneal dystrophy granular corneal dystrophy type III disease_ontology DOID:0060453 Reis-Bucklers corneal dystrophy DOID:0060453 An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. url:https://www.omim.org/entry/608470 RBCD An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life. elvira 2015-10-16T17:55:14Z ICD10CM:H18.5 MESH:C567547 MIM:612867 ORDO:98959 SMCD disease_ontology DOID:0060454 subepithelial mucinous corneal dystrophy DOID:0060454 An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life. url:https://pubmed.ncbi.nlm.nih.gov/8352693/ SMCD An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. elvira 2015-10-16T17:57:16Z MESH:C535942 MIM:602082 ORDO:98960 SNOMEDCT_US_2023_03_01:417065002 UMLS_CUI:C1562894 TBCD Waardenburg-Jonker corneal dystrophy anterior limiting membrane dystrophy type II corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer type II disease_ontology DOID:0060455 Thiel-Behnke corneal dystrophy DOID:0060455 An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. url:https://www.omim.org/entry/602082 TBCD A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36. elvira 2015-10-16T18:01:14Z GARD:9277 MESH:C535475 MIM:121800 ORDO:98967 SNOMEDCT_US_2023_03_01:420212002 UMLS_CUI:C0271287 SCCD Schnyder crystalline corneal dystrophy corneal dystrophy crystalline of Schnyder crystalline stromal dystrophy hereditary crystalline stromal dystrophy of Schnyder disease_ontology DOID:0060456 Schnyder corneal dystrophy DOID:0060456 A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36. url:https://pubmed.ncbi.nlm.nih.gov/23169578/ SCCD A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer. elvira 2015-10-16T18:05:26Z ICD10CM:H18.5 MESH:C562745 MIM:PS122000 ORDO:98973 PPCD Schlichting dystrophy hereditary polymorphus posterior corneal dystrophy disease_ontology DOID:0060457 posterior polymorphous corneal dystrophy DOID:0060457 A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer. url:https://en.wikipedia.org/wiki/Posterior_polymorphous_corneal_dystrophy PPCD A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region. elvira 2015-10-19T14:42:34Z MIM:613681 disease_ontology DOID:0060458 chromosome 2q31.1 duplication syndrome DOID:0060458 A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region. url:https://pubmed.ncbi.nlm.nih.gov/20577005/ A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region. elvira 2015-10-19T14:45:49Z GARD:10360 ICD10CM:Q92.3 MESH:C567626 MIM:611936 ORDO:251038 3q29 microduplication trisomy 3q29 disease_ontology DOID:0060459 chromosome 3q29 microduplication syndrome DOID:0060459 A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region. url:https://ghr.nlm.nih.gov/condition/3q29-microduplication-syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region. elvira 2015-10-19T15:25:26Z ICD10CM:Q92.3 MESH:C567717 MIM:613174 ORDO:329802 5p13 microduplication syndrome trisomy 5p13 disease_ontology DOID:0060460 chromosome 5p13 duplication syndrome DOID:0060460 A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region. url:https://pubmed.ncbi.nlm.nih.gov/19052029/ A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region. elvira 2015-10-19T15:29:51Z ICD10CM:Q99.8 MESH:C567585 MIM:300801 ORDO:217377 microduplication Xp11.22-p11.23 syndrome trisomy Xp11.22-p11.23 disease_ontology DOID:0060461 chromosome Xp11.23-p11.22 duplication syndrome DOID:0060461 A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region. url:https://pubmed.ncbi.nlm.nih.gov/19716111/ An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. elvira 2015-11-02T16:22:42Z GARD:1818 MESH:C535943 MIM:251450 MIM:615777 NCI:C124056 ORDO:1425 SNOMEDCT_US_2023_03_01:254099008 UMLS_CUI:C0432242 Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification disease_ontology DOID:0060462 Desbuquois dysplasia DOID:0060462 An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. url:https://www.ncbi.nlm.nih.gov/pubmed/19853239 url:https://www.ncbi.nlm.nih.gov/pubmed/21037275 A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. elvira 2015-11-04T14:54:36Z NCI:C45716 SNOMEDCT_US_2023_03_01:733922002 UMLS_CUI:C1707291 nuclear protein in testis midline carcinoma disease_ontology DOID:0060463 NUT midline carcinoma DOID:0060463 A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. url:https://en.wikipedia.org/wiki/NUT_midline_carcinoma url:https://www.ncbi.nlm.nih.gov/pubmed/21221870 url:https://www.ncbi.nlm.nih.gov/pubmed/25685583 url:https://www.ncbi.nlm.nih.gov/pubmed/26378054 url:https://www.ncbi.nlm.nih.gov/pubmed/26402248 A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. elvira 2015-11-04T16:11:58Z GARD:8407 ICD10CM:Q87.8 MESH:C537734 MIM:164280 MIM:614326 ORDO:1305 FGLDS MODED syndrome ODED syndrome digital anomalies with short palpebral fissures and atresia of esophagus or duodenum microcephaly-digital anomalies-normal intelligence syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome oculo-digito-esophageal-duodenal syndrome disease_ontology DOID:0060464 Feingold syndrome DOID:0060464 A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. url:http://ghr.nlm.nih.gov/condition/feingold-syndrome url:https://en.wikipedia.org/wiki/Feingold_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/14518066 url:https://www.ncbi.nlm.nih.gov/pubmed/16906565 FGLDS An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen. elvira 2015-11-04T16:24:41Z GARD:2321 MESH:C562524 MIM:PS228520 ORDO:2021 SNOMEDCT_US_2023_03_01:17144009 UMLS_CUI:C0265282 disease_ontology DOID:0060465 fibrochondrogenesis DOID:0060465 An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen. url:https://ghr.nlm.nih.gov/condition/fibrochondrogenesis A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. elvira 2015-11-04T16:47:21Z MESH:C562884 MIM:135300 MIM:605544 MIM:609955 MIM:611010 ORDO:2024 SNOMEDCT_US_2023_03_01:109620006 UMLS_CUI:C0399440 hereditary gingival fibromatosis hereditary gingival hyperplasia disease_ontology DOID:0060466 gingival fibromatosis DOID:0060466 A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. url:https://www.ncbi.nlm.nih.gov/pubmed/11868160 url:https://www.ncbi.nlm.nih.gov/pubmed/17385395 A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. 2015-11-11T21:29:39Z GARD:2748 MESH:C535284 MIM:143050 MIM:236400 ORDO:3265 SNOMEDCT_US_2021_07_31:205329008 disease_ontology humero-radial fusion DOID:0060467 humeroradial synostosis DOID:0060467 A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. url:https://rarediseases.info.nih.gov/diseases/2748/humeroradial-synostosis A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. elvira 2015-11-17T16:06:23Z GARD:6666 ICD10CM:Q87.2 MESH:C535326 MIM:142900 NCI:C125592 ORDO:392 SNOMEDCT_US_2023_03_01:205814003 UMLS_CUI:C0265264 atrio-digital syndrome atriodigital dysplasia heart-hand syndrome disease_ontology DOID:0060468 Holt-Oram syndrome DOID:0060468 A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. url:http://ghr.nlm.nih.gov/condition/holt-oram-syndrome url:https://en.wikipedia.org/wiki/Holt-Oram_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/12223419 url:https://www.ncbi.nlm.nih.gov/pubmed/12436037 A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. elvira 2015-11-17T16:22:00Z ICD10CM:Q93.88 MESH:D054221 MIM:247200 NCI:C124852 ORDO:531 SNOMEDCT_US_2023_03_01:253148005 UMLS_CUI:C0265219 MDS Miller-Dieker syndrome disease_ontology DOID:0060469 Miller-Dieker lissencephaly syndrome DOID:0060469 A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. url:http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome url:https://en.wikipedia.org/wiki/Miller-Dieker_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/21239872 url:https://www.ncbi.nlm.nih.gov/pubmed/9473821 MDS A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome 2p11.2. elvira 2015-11-17T16:40:23Z MIM:609056 ORDO:370938 salt & pepper syndrome salt-and-pepper syndrome disease_ontology DOID:0060470 salt and pepper syndrome DOID:0060470 A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome 2p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/24026681 A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. elvira 2015-11-17T16:47:50Z MESH:C536525 MIM:609442 NCI:C98930 ORDO:1906 SNOMEDCT_US_2023_03_01:205792006 UMLS_CUI:C0236026 fetal valproic acid syndrome foetal valproate syndrome foetal valproic acid syndrome disease_ontology DOID:0060471 fetal valproate syndrome DOID:0060471 A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. url:https://www.ncbi.nlm.nih.gov/pubmed/17090909 url:https://www.ncbi.nlm.nih.gov/pubmed/25400349 A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. elvira 2015-11-17T16:54:49Z GARD:4391 MESH:C536321 MIM:173650 ORDO:306539 hereditary acrokeratotic poikiloderma of Kindler-Weary poikiloderma of Kindler disease_ontology DOID:0060472 Kindler syndrome DOID:0060472 A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. url:https://en.wikipedia.org/wiki/Kindler_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/12668616 A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. elvira 2015-11-18T16:21:35Z GARD:6810 MESH:C537705 MIM:147920 MIM:300867 NCI:C124837 ORDO:2322 SNOMEDCT_US_2023_03_01:205805008 UMLS_CUI:C0796004 KMS Kabuki make up syndrome Niikawa-Kuroki syndrome disease_ontology DOID:0060473 Kabuki syndrome DOID:0060473 A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. url:http://ghr.nlm.nih.gov/condition/kabuki-syndrome url:https://en.wikipedia.org/wiki/Kabuki_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/25281733 url:https://www.ncbi.nlm.nih.gov/pubmed/25972376 url:https://www.ncbi.nlm.nih.gov/pubmed/26512256 KMS A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. elvira 2015-11-18T16:42:50Z ICD10CM:D75.1 MIM:263400 ORDO:238557 Chuvash erythromatosis Chuvash polycythemia Chuvash type polycythemia ECYT2 autosomal recessive benign erythrocytosis disease_ontology DOID:0060474 familial erythrocytosis 2 DOID:0060474 A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. url:https://www.ncbi.nlm.nih.gov/pubmed/15725900 ECYT2 An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. elvira 2015-11-19T16:30:12Z MIM:616421 EEOC childhood onset epileptic encephalopathy disease_ontology DOID:0060475 myoclonic-atonic epilepsy DOID:0060475 An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. url:https://www.ncbi.nlm.nih.gov/books/NBK589173/ url:https://www.ncbi.nlm.nih.gov/pubmed/23708187 url:https://www.ncbi.nlm.nih.gov/pubmed/24207121 EEOC A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. elvira 2015-11-20T16:04:30Z GARD:3936 ICD10CM:Q87.3 MESH:C536399 MIM:267000 ORDO:2849 nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor renal hamartomas, nephroblastomatosis and fetal gigantism disease_ontology DOID:0060476 Perlman syndrome DOID:0060476 A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. url:https://en.wikipedia.org/wiki/Perlman_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/18780370 url:https://www.ncbi.nlm.nih.gov/pubmed/22306653 A viral infectious disease that has_material_basis_in Zika virus (Orthoflavivirus zikaense), which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain. GARD:12894 ICD10CM:A92.8 ICD9CM:066.3 MESH:D000071243 NCI:C128423 ORDO:448237 SNOMEDCT_US_2025_05_01:3928002 UMLS_CUI:C0276289 Zika virus disease disease_ontology DOID:0060478 Zika fever ICD10CM:A92.8 ICD9CM:066.3 GARD:12894 ICD9CM:066.3 MESH:D000071243 NCI:C128423 ORDO:448237 UMLS_CUI:C0276289 DOID:0060478 A viral infectious disease that has_material_basis_in Zika virus (Orthoflavivirus zikaense), which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain. url:https://en.wikipedia.org/wiki/Zika_fever url:https://www.cdc.gov/zika/about/ url:https://www.ecdc.europa.eu/en/zika-virus-disease url:https://www.ncbi.nlm.nih.gov/books/NBK430981/ url:https://www.who.int/news-room/fact-sheets/detail/zika-virus A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. DOID:0080023 GARD:4863 ICD10CM:D61.0 MESH:D000081003 MIM:260400 Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond type metaphyseal dysplasia pancreatic insufficiency and bone marrow dysfunction disease_ontology DOID:0060479 Shwachman-Diamond syndrome DOID:0060479 A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. url:http://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome url:https://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/18356737 url:https://www.ncbi.nlm.nih.gov/pubmed/22201042 An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. GARD:10985 MIM:604169 ORDO:54260 left ventricular hypertrabeculation disease_ontology DOID:0060480 left ventricular noncompaction DOID:0060480 An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. url:https://www.ncbi.nlm.nih.gov/pubmed/16567565 A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. GARD:9849 MESH:C537279 MIM:609460 ORDO:66629 SNOMEDCT_US_2023_03_01:717822006 UMLS_CUI:C1836123 Goldberg-Shprintzen megacolon syndrome disease_ontology DOID:0060481 Goldberg-Shprintzen syndrome DOID:0060481 A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. url:https://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/15883926 url:https://www.ncbi.nlm.nih.gov/pubmed/23427148 A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. ICD10CM:Q87.8 MESH:C567416 MIM:612109 ORDO:157962 disease_ontology DOID:0060482 oculoauricular syndrome DOID:0060482 A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. url:https://www.ncbi.nlm.nih.gov/pubmed/18423520 url:https://www.ncbi.nlm.nih.gov/pubmed/25574057 A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. MIM:609313 ORDO:171851 erythrokeratodermia variabilis 3 erythrokeratodermia variabilis, Kamouraska type mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia disease_ontology DOID:0060483 MEDNIK syndrome DOID:0060483 A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. url:https://www.ncbi.nlm.nih.gov/pubmed/23423674 url:https://www.ncbi.nlm.nih.gov/pubmed/24754424 A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. MESH:C557674 MIM:612780 ORDO:199343 SNOMEDCT_US_2023_03_01:721207002 UMLS_CUI:C2748572 SeSAME syndrome epilepsy, ataxia, sensorineural deafness and tubulopathy seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance disease_ontology DOID:0060484 EAST syndrome DOID:0060484 A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. url:https://www.ncbi.nlm.nih.gov/pubmed/19289823 url:https://www.ncbi.nlm.nih.gov/pubmed/19420365 url:https://www.ncbi.nlm.nih.gov/pubmed/23471908 A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. GARD:9673 MESH:C536990 MIM:235730 NCI:C74999 ORDO:2152 SNOMEDCT_US_2023_03_01:703535000 UMLS_CUI:C1856113 Hirschsprung disease mental retardation syndrome microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease disease_ontology DOID:0060485 Mowat-Wilson syndrome DOID:0060485 A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. url:https://research.nhgri.nih.gov/atlas/condition/mowat-wilson-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/17958891 url:https://www.ncbi.nlm.nih.gov/pubmed/23466526 A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13. GARD:10453 MESH:C566822 MIM:168605 ORDO:178509 parkinsonism with alveolar hypoventilation and mental depression disease_ontology DOID:0060486 Perry syndrome DOID:0060486 A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13. url:http://www.ncbi.nlm.nih.gov/books/NBK47027/ url:https://ghr.nlm.nih.gov/condition/perry-syndrome A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. GARD:4372 MESH:C537403 MIM:610954 NCI:C129872 ORDO:2896 SNOMEDCT_US_2023_03_01:702344008 UMLS_CUI:C1970431 disease_ontology DOID:0060488 Pitt-Hopkins syndrome DOID:0060488 A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. url:http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome url:https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/17436255 url:https://www.ncbi.nlm.nih.gov/pubmed/26621827 url:https://www.ncbi.nlm.nih.gov/pubmed/728011 A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. GARD:4984 MESH:C536629 MIM:242900 NCI:C135087 ORDO:1830 SNOMEDCT_US_2023_03_01:723995003 UMLS_CUI:C0877024 Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome disease_ontology DOID:0060490 Schimke immuno-osseous dysplasia DOID:0060490 A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. url:http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia url:http://www.ncbi.nlm.nih.gov/books/NBK1376/ url:https://www.ncbi.nlm.nih.gov/pubmed/10653321 A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2. ICD10CM:G11.4 MESH:C563702 MIM:609541 ORDO:320406 spastic paraplegia, optic atropy, and neuropathy spastic paraplegia, optic atropy, and neuropathy syndrome disease_ontology DOID:0060491 SPOAN syndrome DOID:0060491 A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15852396 url:https://www.ncbi.nlm.nih.gov/pubmed/26385635 An egg allergy triggered by Gallus gallus eggs. Gallus gallus egg allergy disease_ontology DOID:0060492 chicken egg allergy DOID:0060492 An egg allergy triggered by Gallus gallus eggs. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5001 url:https://en.wikipedia.org/wiki/Egg_allergy A food allergy triggered by Crustacea or Mollusca. disease_ontology DOID:0060495 shellfish allergy DOID:0060495 A food allergy triggered by Crustacea or Mollusca. url:https://www.ncbi.nlm.nih.gov/pubmed/28027402 url:https://www.ncbi.nlm.nih.gov/pubmed/29858102 url:https://www.ncbi.nlm.nih.gov/pubmed/30893087 An allergic disease that is located_in the respiratory tract. airway allergy disease_ontology DOID:0060496 respiratory allergy DOID:0060496 An allergic disease that is located_in the respiratory tract. url:https://www.ncbi.nlm.nih.gov/pubmed/25006500 url:https://www.ncbi.nlm.nih.gov/pubmed/28187789 A respiratory allergy triggered by pollen. disease_ontology DOID:0060497 pollen allergy DOID:0060497 A respiratory allergy triggered by pollen. url:https://acaai.org/allergies/types-allergies/pollen-allergy url:https://www.aafa.org/pollen-allergy/ A pollen allergy triggered by Phleum pratense pollen. disease_ontology DOID:0060498 Timothy grass allergy DOID:0060498 A pollen allergy triggered by Phleum pratense pollen. url:https://www.ncbi.nlm.nih.gov/pubmed/25685162 An autoimmune disease of central nervous system caused by an autoimmune response. disease_ontology DOID:0060499 autoimmune neuropathy DOID:0060499 An autoimmune disease of central nervous system caused by an autoimmune response. url:https://www.dukehealth.org/pediatric-treatments/autoimmune-brain-disorders url:https://www.ncbi.nlm.nih.gov/pubmed/28601415 An allergic disease that is triggered by a drug. disease_ontology DOID:0060500 drug allergy DOID:0060500 An allergic disease that is triggered by a drug. url:https://www.mayoclinic.org/diseases-conditions/drug-allergy/symptoms-causes/syc-20371835 An allergic disease that is triggered by a metal. disease_ontology DOID:0060501 metal allergy DOID:0060501 An allergic disease that is triggered by a metal. url:https://www.ncbi.nlm.nih.gov/pubmed/27228132 An allergic disease that is located_in the gastrointestinal tract. disease_ontology DOID:0060502 gastrointestinal allergy DOID:0060502 An allergic disease that is located_in the gastrointestinal tract. url:https://www.ncbi.nlm.nih.gov/pubmed/18721321 A food allergy triggered by a plant fruit product. disease_ontology DOID:0060503 fruit allergy DOID:0060503 A food allergy triggered by a plant fruit product. url:https://en.wikipedia.org/wiki/Fruit_allergy url:https://www.ncbi.nlm.nih.gov/pubmed/26022876 url:https://www.ncbi.nlm.nih.gov/pubmed/26549334 A fruit allergy triggered by Malus domestica plant fruit food product. Malus domestica fruit allergy disease_ontology DOID:0060504 apple allergy DOID:0060504 A fruit allergy triggered by Malus domestica plant fruit food product. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=2 url:https://www.ncbi.nlm.nih.gov/pubmed/26549334 url:https://www.ncbi.nlm.nih.gov/pubmed/29130794 A fruit allergy triggered by Prunus armeniaca plant fruit food product. Prunus armeniaca fruit allergy disease_ontology DOID:0060505 apricot allergy DOID:0060505 A fruit allergy triggered by Prunus armeniaca plant fruit food product. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=410 url:https://www.ncbi.nlm.nih.gov/pubmed/30611476 A fruit allergy triggered by Prunus avium plant fruit food product. Prunus avium fruit allergy disease_ontology DOID:0060506 cherry allergy DOID:0060506 A fruit allergy triggered by Prunus avium plant fruit food product. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=19 url:https://www.ncbi.nlm.nih.gov/pubmed/26549334 url:https://www.ncbi.nlm.nih.gov/pubmed/30093847 A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. Ziziphus mauritiana fruit allergy disease_ontology DOID:0060507 Indian plum allergy DOID:0060507 A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. url:https://en.wikipedia.org/wiki/Fruit_allergy url:https://www.ncbi.nlm.nih.gov/pubmed/14976388 url:https://www.ncbi.nlm.nih.gov/pubmed/24696647 A fruit allergy triggered by Citrus sinensis plant fruit food product. Citrus sinensis fruit allergy disease_ontology DOID:0060508 orange allergy DOID:0060508 A fruit allergy triggered by Citrus sinensis plant fruit food product. url:https://www.ncbi.nlm.nih.gov/pubmed/26549334 url:https://www.ncbi.nlm.nih.gov/pubmed/30099793 A fruit allergy triggered by Cucumis melo plant fruit food product. Cucumis melo fruit allergy disease_ontology DOID:0060509 melon allergy DOID:0060509 A fruit allergy triggered by Cucumis melo plant fruit food product. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=67 url:https://www.ncbi.nlm.nih.gov/pubmed/26549334 A fruit allergy triggered by Prunus persica plant fruit food product. Prunus persica fruit allergy disease_ontology DOID:0060510 peach allergy DOID:0060510 A fruit allergy triggered by Prunus persica plant fruit food product. url:https://www.ncbi.nlm.nih.gov/pubmed/30672059 A fruit allergy triggered by Prunus domestica plant fruit food product. Prunus domestica fruit allergy disease_ontology DOID:0060511 plum allergy DOID:0060511 A fruit allergy triggered by Prunus domestica plant fruit food product. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=27 A fruit allergy triggered by Solanum lycopersicum plant fruit food product. Solanum lycopersicum fruit allergy disease_ontology DOID:0060512 tomato allergy DOID:0060512 A fruit allergy triggered by Solanum lycopersicum plant fruit food product. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=52 url:https://www.ncbi.nlm.nih.gov/pubmed/12001794 url:https://www.ncbi.nlm.nih.gov/pubmed/23653972 A food allergy triggered by fish. disease_ontology DOID:0060513 fish allergy DOID:0060513 A food allergy triggered by fish. url:https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy url:https://www.ncbi.nlm.nih.gov/pubmed/24795722 url:https://www.ncbi.nlm.nih.gov/pubmed/30323632 A fish allergy triggered by Gadus morhua. Gadus morhua fish allergy disease_ontology DOID:0060514 Atlantic cod allergy DOID:0060514 A fish allergy triggered by Gadus morhua. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5005 url:https://www.ncbi.nlm.nih.gov/pubmed/24795722 url:https://www.ncbi.nlm.nih.gov/pubmed/30323632 A fish allergy triggered by Salmo salar. Salmo salar fish allergy disease_ontology DOID:0060515 Atlantic salmon allergy DOID:0060515 A fish allergy triggered by Salmo salar. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5022 url:https://www.ncbi.nlm.nih.gov/pubmed/24795722 url:https://www.ncbi.nlm.nih.gov/pubmed/30323632 A fish allergy triggered by Cyprinus carpio. Cyprinus carpio fish allergy disease_ontology DOID:0060516 carp allergy DOID:0060516 A fish allergy triggered by Cyprinus carpio. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5018 url:https://www.ncbi.nlm.nih.gov/pubmed/24795722 url:https://www.ncbi.nlm.nih.gov/pubmed/30323632 A fish allergy triggered by Danio rerio. Danio rerio allergy disease_ontology DOID:0060517 zebrafish allergy DOID:0060517 A fish allergy triggered by Danio rerio. url:https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy A fish allergy triggered by Oncorhynchus mykiss. Oncorhynchus mykiss allergy disease_ontology DOID:0060518 rainbow trout allergy DOID:0060518 A fish allergy triggered by Oncorhynchus mykiss. url:https://www.ncbi.nlm.nih.gov/pubmed/24795722 url:https://www.ncbi.nlm.nih.gov/pubmed/26111497 url:https://www.ncbi.nlm.nih.gov/pubmed/30323632 A drug allergy triggered by a beta-lactam. disease_ontology DOID:0060519 beta-lactam allergy DOID:0060519 A drug allergy triggered by a beta-lactam. url:https://en.wikipedia.org/wiki/%CE%92-lactam_antibiotic#Allergy/hypersensitivity url:https://www.hopkinsguides.com/hopkins/view/Johns_Hopkins_ABX_Guide/540622/all/Beta_lactam_allergy url:https://www.ncbi.nlm.nih.gov/pubmed/31009700 A beta-lactam allergy triggered by penicillin. disease_ontology DOID:0060520 penicillin allergy DOID:0060520 A beta-lactam allergy triggered by penicillin. url:https://en.wikipedia.org/wiki/Side_effects_of_penicillin#Allergies_and_cross_sensitivities url:https://www.mayoclinic.org/diseases-conditions/penicillin-allergy/symptoms-causes/syc-20376222 A milk allergy triggered by Bos taurus milk. Bos taurus milk allergy disease_ontology DOID:0060521 cow milk allergy DOID:0060521 A milk allergy triggered by Bos taurus milk. url:https://www.ncbi.nlm.nih.gov/pubmed/31083388 A milk allergy triggered by Capra hircus milk. Capra hircus milk allergy disease_ontology DOID:0060522 goat milk allergy DOID:0060522 A milk allergy triggered by Capra hircus milk. url:https://www.ncbi.nlm.nih.gov/pubmed/17002714 url:https://www.ncbi.nlm.nih.gov/pubmed/24372684 A shellfish allergy triggered by Mollusca. disease_ontology DOID:0060523 mollusc allergy DOID:0060523 A shellfish allergy triggered by Mollusca. url:https://www.ncbi.nlm.nih.gov/pubmed/28027402 url:https://www.ncbi.nlm.nih.gov/pubmed/29858102 url:https://www.ncbi.nlm.nih.gov/pubmed/30893087 A shellfish allergy triggered by Crustacea. disease_ontology DOID:0060524 crustacean allergy DOID:0060524 A shellfish allergy triggered by Crustacea. url:https://www.ncbi.nlm.nih.gov/pubmed/28027402 url:https://www.ncbi.nlm.nih.gov/pubmed/29858102 url:https://www.ncbi.nlm.nih.gov/pubmed/30893087 A crustacean allergy triggered by Farfantepenaeus aztecus. Farfantepenaeus aztecus allergy disease_ontology DOID:0060525 brown shrimp allergy DOID:0060525 A crustacean allergy triggered by Farfantepenaeus aztecus. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5027 url:https://www.ncbi.nlm.nih.gov/pubmed/28027402 url:https://www.ncbi.nlm.nih.gov/pubmed/29858102 A crustacean allergy triggered by Scylla paramamosain. Scylla paramamosain allergy green mud crab allergy disease_ontology DOID:0060526 crab allergy DOID:0060526 A crustacean allergy triggered by Scylla paramamosain. url:https://www.ncbi.nlm.nih.gov/pubmed/25728640 url:https://www.ncbi.nlm.nih.gov/pubmed/29858102 A crustacean allergy triggered by Fenneropenaeus indicus. Fenneropenaeus indicus allergy disease_ontology DOID:0060527 Indian prawn allergy DOID:0060527 A crustacean allergy triggered by Fenneropenaeus indicus. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5029 url:https://www.ncbi.nlm.nih.gov/pubmed/29858102 A crustacean allergy triggered by Penaeus monodon. Penaeus monodon allergy disease_ontology DOID:0060528 tiger prawn allergy DOID:0060528 A crustacean allergy triggered by Penaeus monodon. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5028 url:https://www.ncbi.nlm.nih.gov/pubmed/22135598 url:https://www.ncbi.nlm.nih.gov/pubmed/29178679 A crustacean allergy triggered by Litopenaeus vannamei. Litopenaeus vannamei allergy disease_ontology DOID:0060529 white shrimp allergy DOID:0060529 A crustacean allergy triggered by Litopenaeus vannamei. url:https://www.ncbi.nlm.nih.gov/pubmed/20471069 url:https://www.ncbi.nlm.nih.gov/pubmed/28027402 url:https://www.ncbi.nlm.nih.gov/pubmed/29858102 A mollusc allergy triggered by snails. disease_ontology DOID:0060530 snail allergy DOID:0060530 A mollusc allergy triggered by snails. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5010 url:https://www.ncbi.nlm.nih.gov/pubmed/15591808 A snail allergy triggered by the horned turban snail. Turbo cornutus allergy disease_ontology DOID:0060531 horned turban snail allergy DOID:0060531 A snail allergy triggered by the horned turban snail. url:https://farrp.unl.edu/informallmollshellfish An allergic disease that is triggered by latex. disease_ontology DOID:0060532 latex allergy DOID:0060532 An allergic disease that is triggered by latex. url:https://en.wikipedia.org/wiki/Latex_allergy url:https://www.ncbi.nlm.nih.gov/pubmed/27010091 An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. ICDO:8576/3 NCI:C66950 disease_ontology DOID:0060534 hepatoid adenocarcinoma DOID:0060534 An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. url:https://en.wikipedia.org/wiki/Adenocarcinoma A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. GARD:13708 MIM:613398 ORDO:280558 WABS disease_ontology DOID:0060535 Warsaw breakage syndrome DOID:0060535 A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. url:https://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/20137776 url:https://www.ncbi.nlm.nih.gov/pubmed/21490908 url:https://www.ncbi.nlm.nih.gov/pubmed/23033317 url:https://www.ncbi.nlm.nih.gov/pubmed/26089203 url:https://www.ncbi.nlm.nih.gov/pubmed/31169992 WABS A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. GARD:3908 MESH:C537475 ORDO:2609 SNOMEDCT_US_2023_03_01:237988006 UMLS_CUI:C1838979 isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated mitochondrial respiratory chain complex I deficiency disease_ontology DOID:0060536 mitochondrial complex I deficiency DOID:0060536 A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. url:http://www.omim.org/entry/252010 A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. GARD:5053 ICD10CM:G71.3 MESH:C565375 MIM:252011 ORDO:3208 isolated mitochondrial respiratory chain complex II deficiency isolated succinate-CoQ reductase deficiency isolated succinate-coenzyme Q reductase deficiency isolated succinate-ubiquinone reductase deficiency disease_ontology DOID:0060537 mitochondrial complex II deficiency DOID:0060537 A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/23322652 A purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagulation. It is often fatal. ICD10CM:D65 MESH:D055665 ORDO:49566 purpura gangrenosa disease_ontology DOID:0060538 purpura fulminans DOID:0060538 A purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagulation. It is often fatal. url:https://en.wikipedia.org/wiki/Purpura_fulminans url:https://www.ncbi.nlm.nih.gov/pubmed/26955583 url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49566 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. MIM:203300 disease_ontology DOID:0060539 Hermansky-Pudlak syndrome 1 DOID:0060539 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. url:http://omim.org/entry/203300 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. MESH:C537709 MIM:608233 disease_ontology DOID:0060540 Hermansky-Pudlak syndrome 2 DOID:0060540 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. url:http://omim.org/entry/608233 A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24. MIM:614072 disease_ontology DOID:0060541 Hermansky-Pudlak syndrome 3 DOID:0060541 A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24. url:http://omim.org/entry/614072 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. MIM:614073 disease_ontology DOID:0060542 Hermansky-Pudlak syndrome 4 DOID:0060542 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. url:http://omim.org/entry/614073 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14. MIM:614074 disease_ontology DOID:0060543 Hermansky-Pudlak syndrome 5 DOID:0060543 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14. url:http://omim.org/entry/614074 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24. MIM:614075 disease_ontology DOID:0060544 Hermansky-Pudlak syndrome 6 DOID:0060544 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24. url:http://omim.org/entry/614075 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3. MIM:614076 disease_ontology DOID:0060545 Hermansky-Pudlak syndrome 7 DOID:0060545 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3. url:http://omim.org/entry/614076 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. MIM:614077 disease_ontology DOID:0060546 Hermansky-Pudlak syndrome 8 DOID:0060546 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. url:http://omim.org/entry/614077 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21. MIM:614171 disease_ontology DOID:0060547 Hermansky-Pudlak syndrome 9 DOID:0060547 A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21. url:http://omim.org/entry/614171 A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. breast tumor luminal luminal breast cancer NCI:C53554 UMLS_CUI:C3642345 Luminal A Breast Carcinoma disease_ontology DOID:0060548 luminal breast carcinoma A DOID:0060548 A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/ A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. GARD:819 MESH:C537908 MIM:209885 ORDO:1231 SNOMEDCT_US_2023_03_01:408537003 UMLS_CUI:C1319466 disease_ontology DOID:0060549 Barber-Say syndrome DOID:0060549 A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/27196381 A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. GARD:3 MESH:C535557 MIM:200110 ORDO:920 SNOMEDCT_US_2023_03_01:718575002 UMLS_CUI:C1860224 disease_ontology DOID:0060550 ablepharon macrostomia syndrome DOID:0060550 A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. url:http://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/ url:https://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/27196381 A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13. GARD:4085 ICD10CM:D82.8 MESH:C565820 MIM:604173 ORDO:221046 poikiloderma with neutropenia, Clericuzio type disease_ontology DOID:0060551 poikiloderma with neutropenia DOID:0060551 A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13. url:https://www.ncbi.nlm.nih.gov/pubmed/20734427 An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36. MESH:C537177 MIM:606693 ORDO:306674 SNOMEDCT_US_2023_03_01:723992000 UMLS_CUI:C1847640 autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9 disease_ontology DOID:0060556 Kufor-Rakeb syndrome DOID:0060556 An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/15986421 url:https://www.ncbi.nlm.nih.gov/pubmed/23791710 An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13. MIM:615217 ataxia-oculomotor apraxia 3 disease_ontology DOID:0060557 ataxia with oculomotor apraxia type 3 DOID:0060557 An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13. url:https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. GARD:12643 ICD10CM:Q68.8 MIM:PS253310 ORDO:294965 disease_ontology DOID:0060558 lethal congenital contracture syndrome DOID:0060558 A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. url:https://www.ncbi.nlm.nih.gov/pubmed/22610851 A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34. GARD:3227 MESH:C537194 MIM:253310 ORDO:1486 SNOMEDCT_US_2023_03_01:715418007 UMLS_CUI:C1854664 LCCS1 multiple contracture syndrome, Finnish type disease_ontology DOID:0060559 lethal congenital contracture syndrome 1 DOID:0060559 A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/9683599 LCCS1 A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13. GARD:9177 MESH:C564369 MIM:607598 ORDO:137776 LCCS2 multiple contracture syndrome, Israeli-Bedouin type disease_ontology DOID:0060560 lethal congenital contracture syndrome 2 DOID:0060560 A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/15378541 url:https://www.ncbi.nlm.nih.gov/pubmed/17701904 LCCS2 A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene. disease_ontology DOID:0060561 obsolete DMD-related dilated cardiomyopathy true DOID:0060561 A dilated cardiomyopathy that has_material_basis_in mutations in the DMD gene. url:https://ghr.nlm.nih.gov/condition/dmd-associated-dilated-cardiomyopathy A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. MESH:D063748 ALCAPA Bland-White-Garland syndrome White-Garland syndrome disease_ontology DOID:0060562 anomalous left coronary artery from the pulmonary artery DOID:0060562 A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. url:https://en.wikipedia.org/wiki/Anomalous_left_coronary_artery_from_the_pulmonary_artery ALCAPA A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. GARD:1237 MESH:C566815 MIM:169100 disease_ontology DOID:0060563 Char syndrome DOID:0060563 A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. url:https://pubmed.ncbi.nlm.nih.gov/10368122/ A bone disease that is located_in the spine. disease_ontology DOID:0060564 spinal disease DOID:0060564 A bone disease that is located_in the spine. url:https://en.wikipedia.org/wiki/Spinal_disease A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. MESH:C535313 MIM:PS220210 ORDO:7 SNOMEDCT_US_2023_03_01:718556007 UMLS_CUI:C0796137 CCC dysplasia craniocerebellocardiac dysplasia disease_ontology DOID:0060565 Ritscher-Schinzel syndrome DOID:0060565 A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. url:https://en.wikipedia.org/wiki/3C_syndrome A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. MESH:C535327 MIM:236110 ORDO:2167 SNOMEDCT_US_2023_03_01:783159001 UMLS_CUI:C1856095 Holzgreve Wagner Rehder Syndrome Holzgreve syndrome disease_ontology DOID:0060566 Holzgreve-Wagner-Rehder Syndrome DOID:0060566 A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. url:https://www.ncbi.nlm.nih.gov/pubmed/3232694 A vasculitis characterized by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks. GARD:8653 ICD10CM:L95.1 MESH:C535509 ORDO:90000 SNOMEDCT_US_2023_03_01:201300002 UMLS_CUI:C0263398 disease_ontology DOID:0060567 erythema elevatum diutinum DOID:0060567 A vasculitis characterized by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks. url:http://www.dermnetnz.org/vascular/erythema-elevatum-diutinum.html An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly. GARD:8585 MESH:C535572 MIM:239850 Cantu syndrome disease_ontology DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type DOID:0060569 An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly. url:https://en.wikipedia.org/wiki/Cant%C3%BA_syndrome url:https://ghr.nlm.nih.gov/condition/cantu-syndrome A tuberculosis located in the heart. MESH:D014381 cardiovascular tuberculosis disease_ontology DOID:0060570 cardiac tuberculosis DOID:0060570 A tuberculosis located in the heart. url:https://pubmed.ncbi.nlm.nih.gov/28814447/ A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. MIM:220210 ORDO:7 disease_ontology DOID:0060571 Ritscher-Schinzel syndrome 1 DOID:0060571 A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. url:https://www.ncbi.nlm.nih.gov/pubmed/24065355 A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11. MIM:300963 ORDO:7 disease_ontology DOID:0060572 Ritscher-Schinzel syndrome 2 DOID:0060572 A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/24916641 A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13. ICD10CM:D68.01 MESH:D056725 MIM:193400 NCI:C131685 SNOMEDCT_US_2023_03_01:128106003 UMLS_CUI:C1264039 VWD type 1 VWD1 von Willebrand disease type 1 von Willebrand disease type I disease_ontology DOID:0060573 von Willebrand's disease 1 DOID:0060573 A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/16889557 url:https://www.ncbi.nlm.nih.gov/pubmed/8456432 VWD1 A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13. ICD10CM:D68.02 MESH:D056728 MIM:613554 ORDO:166081 SNOMEDCT_US_2023_03_01:128107007 UMLS_CUI:C1264040 VWD type 2 VWD2 von Willebrand disease type 2 von Willebrand disease type II disease_ontology DOID:0060574 von Willebrand's disease 2 DOID:0060574 A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/20409624 VWD2 A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27. MIM:257920 disease_ontology DOID:0060575 3MC syndrome 1 DOID:0060575 A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27. url:https://ghr.nlm.nih.gov/condition/3mc-syndrome url:https://www.omim.org/entry/257920 A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25. MIM:265050 disease_ontology DOID:0060576 3MC syndrome 2 DOID:0060576 A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25. url:https://ghr.nlm.nih.gov/condition/3mc-syndrome url:https://www.omim.org/entry/265050 A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24. MIM:248340 disease_ontology DOID:0060577 3MC syndrome 3 DOID:0060577 A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21258343 A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. DOID:0070101 ICD10CM:Q87.1 MIM:163950 NS1 disease_ontology DOID:0060578 Noonan syndrome 1 DOID:0060578 A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/18203203 NS1 A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11. DOID:0070102 ICD10CM:Q87.1 MESH:C548081 MIM:605275 NS2 disease_ontology DOID:0060580 Noonan syndrome 2 DOID:0060580 A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11. url:https://www.ncbi.nlm.nih.gov/pubmed/5782826 NS2 A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene. DOID:0070103 ICD10CM:Q87.1 MESH:C537847 MIM:609942 NS3 disease_ontology DOID:0060581 Noonan syndrome 3 DOID:0060581 A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene. url:https://www.ncbi.nlm.nih.gov/pubmed/16474405 NS3 A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. DOID:0070104 ICD10CM:Q87.1 MESH:C548082 MIM:610733 NS4 disease_ontology DOID:0060582 Noonan syndrome 4 DOID:0060582 A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. url:https://www.ncbi.nlm.nih.gov/pubmed/19438935 NS4 A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene. DOID:0070105 ICD10CM:Q87.1 MESH:C548083 MIM:611553 NS5 disease_ontology DOID:0060583 Noonan syndrome 5 DOID:0060583 A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/17603483 NS5 A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13. DOID:0070106 ICD10CM:Q87.1 MESH:C548084 MIM:613224 NS6 disease_ontology DOID:0060584 Noonan syndrome 6 DOID:0060584 A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13. url:https://www.ncbi.nlm.nih.gov/pubmed/19966803 NS6 A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene. DOID:0070107 ICD10CM:Q87.1 MIM:613706 NS7 disease_ontology DOID:0060585 Noonan syndrome 7 DOID:0060585 A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene. url:https://www.ncbi.nlm.nih.gov/pubmed/19206169 NS7 A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22. DOID:0070108 ICD10CM:Q87.1 MIM:615355 NS8 disease_ontology DOID:0060586 Noonan syndrome 8 DOID:0060586 A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/24939608 url:https://www.ncbi.nlm.nih.gov/pubmed/25124994 NS8 A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21. DOID:0070109 ICD10CM:Q87.1 MIM:616559 NS9 disease_ontology DOID:0060587 Noonan syndrome 9 DOID:0060587 A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21. url:https://www.ncbi.nlm.nih.gov/pubmed/25795793 NS9 A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11. DOID:0070110 ICD10CM:Q87.1 MIM:616564 NS10 disease_ontology DOID:0060588 Noonan syndrome 10 DOID:0060588 A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11. url:https://www.ncbi.nlm.nih.gov/pubmed/25795793 NS10 A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. GARD:331 MESH:C536719 MIM:216340 UMLS_CUI:C1857663 cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome disease_ontology DOID:0060589 Yunis-Varon syndrome DOID:0060589 A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. url:https://www.ncbi.nlm.nih.gov/pubmed/23623387 A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13. GARD:10628 MESH:C567043 MIM:610965 XFEPS XPF-ERCC1 progeroid syndrome disease_ontology DOID:0060590 XFE progeroid syndrome DOID:0060590 A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/17183314 XFEPS An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22. GARD:9297 MESH:C536697 MIM:193670 NCI:C176819 SNOMEDCT_US_2023_03_01:234571003 UMLS_CUI:C0472817 WHIMS warts, hypogammaglobulinemia, infections, and myelokathexis warts-hypogammaglobulinemia-infections-myelokathexis syndrome disease_ontology DOID:0060591 WHIM syndrome 1 DOID:0060591 An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22. url:https://en.wikipedia.org/wiki/WHIM_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/10767001 WHIMS An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. NCI:C9143 B-cell adult acute lymphocytic leukaemia adult B acute lymphoblastic leukaemia adult B acute lymphoblastic leukemia adult B-lymphoblastic leukaemia adult B-lymphoblastic leukemia adult b-cell acute lymphoblastic leukaemia adult b-cell acute lymphoblastic leukemia adult b-cell lymphocytic leukaemia adult b-cell lymphocytic leukemia disease_ontology DOID:0060592 B-cell adult acute lymphocytic leukemia DOID:0060592 An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9143 A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. DOID:8747 ICD10CM:C92.2 ICD9CM:205.2 ICDO:9876/3 MESH:D054438 NCI:C3519 ORDO:98824 SNOMEDCT_US_2023_03_01:128826001 UMLS_CUI:C1292772 aCML atypical CML atypical chronic myeloid leukaemia atypical chronic myeloid leukaemia BCR-ABL1 negative atypical chronic myeloid leukemia BCR-ABL1 negative subacute myeloid leukemia disease_ontology DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative DOID:0060597 A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C3519 url:https://www.ncbi.nlm.nih.gov/pubmed/29226717 aCML A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. GARD:7161 MESH:C538336 MIM:302350 ORDO:627 SNOMEDCT_US_2023_03_01:445257004 UMLS_CUI:C0796085 disease_ontology DOID:0060599 Nance-Horan syndrome DOID:0060599 A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. url:https://en.wikipedia.org/wiki/Nance-Horan_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/2246772 url:https://www.ncbi.nlm.nih.gov/pubmed/6467651 disease_ontology DOID:0060600 obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum true DOID:0060600 A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. ICD10CM:D68.8 MIM:262850 ORDO:79 antiplasmin defiency plasmin inhibitor deficiency disease_ontology DOID:0060601 alpha-2-plasmin inhibitor deficiency DOID:0060601 A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. url:https://www.ncbi.nlm.nih.gov/pubmed/11472338 url:https://www.ncbi.nlm.nih.gov/pubmed/156196 A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. MESH:C565768 MIM:614307 AMACR deficiency disease_ontology DOID:0060602 alpha-methylacyl-CoA racemase deficiency DOID:0060602 A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11861706 An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11. MIM:106190 Dann-Epstein-Sohar syndrome disease_ontology DOID:0060603 isolated anhidrosis with normal sweat glands DOID:0060603 An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11. url:https://www.ncbi.nlm.nih.gov/pubmed/2401610 A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth. ICD10CM:Q38.1 MESH:D000072676 MIM:106280 tongue-tie disease_ontology DOID:0060604 ankyloglossia MESH:D000072676 DOID:0060604 A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth. url:https://en.wikipedia.org/wiki/Ankyloglossia url:https://www.ncbi.nlm.nih.gov/pubmed/18983637 url:https://www.ncbi.nlm.nih.gov/pubmed/5251442 An eye disease that is characterized by impaired development of the anterior segment of the eye. disease_ontology DOID:0060605 obsolete anterior segment mesenchymal dysgenesis true DOID:0060605 A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. disease_ontology DOID:0060606 fetal nicotine spectrum disorder DOID:0060606 A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2905398/ url:https://www.ncbi.nlm.nih.gov/pubmed/20363831 An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2. GARD:5120 ICD10CM:Q87.1 MESH:C537577 MIM:210710 ORDO:2636 Taybi-Linder syndrome brachymelic primordial dwarfism cephaloskeletal dysplasia low-birth-weight dwarfism with skeletal dysplasia osteodysplastic primordial dwarfism type I disease_ontology DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I DOID:0060608 An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2. url:http://omim.org/entry/210710 url:https://www.ncbi.nlm.nih.gov/pubmed/22302400 An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. ICD10CM:Q87.1 MESH:C565898 MIM:210720 ORDO:2637 Majewski osteodysplastic primordial dwarfism type II osteodysplastic primordial dwarfism type II disease_ontology DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II DOID:0060609 An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. url:http://omim.org/entry/210720 url:https://www.ncbi.nlm.nih.gov/pubmed/7551160 A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. MESH:C536138 MIM:155310 NCI:C98982 ORDO:2241 SNOMEDCT_US_2023_03_01:253781004 UMLS_CUI:C1608393 Berdon syndrome Megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH visceral myopathy disease_ontology DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome DOID:0060610 A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. url:https://en.wikipedia.org/wiki/Berdon_syndrome url:https://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/21792650 url:https://www.ncbi.nlm.nih.gov/pubmed/25407000 A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. GARD:9226 MESH:C535554 MIM:PS605552 disease_ontology DOID:0060611 abdominal obesity-metabolic syndrome DOID:0060611 A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. url:https://pubmed.ncbi.nlm.nih.gov/17167477/ An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13. MIM:615812 disease_ontology DOID:0060612 abdominal obesity-metabolic syndrome 3 DOID:0060612 An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13. url:http://omim.org/entry/615812 url:https://www.ncbi.nlm.nih.gov/pubmed/24827035 A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21. MIM:303400 ORDO:324601 X-linked cleft palate and ankyloglossia disease_ontology DOID:0060613 X-linked cleft palate with or without ankyloglossia DOID:0060613 A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21. url:https://www.ncbi.nlm.nih.gov/pubmed/14729838 A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene. GARD:118 MESH:C536937 MIM:181450 ORDO:3138 SNOMEDCT_US_2023_03_01:700211007 UMLS_CUI:C1866994 Pallister ulnar-mammary syndrome Schinzel syndrome disease_ontology DOID:0060614 ulnar-mammary syndrome DOID:0060614 A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/8595424 url:https://www.ncbi.nlm.nih.gov/pubmed/8923944 A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24. MIM:610199 ORDO:79118 NDH syndrome disease_ontology DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism DOID:0060638 A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24. url:https://www.ncbi.nlm.nih.gov/pubmed/16715098 A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene. GARD:10457 MIM:606176 PDMI PNDM permanent diabetes mellitus of infancy disease_ontology DOID:0060639 permanent neonatal diabetes mellitus DOID:0060639 A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/17213273 PDMI PNDM A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13. GARD:2198 MESH:C535737 MIM:602473 ORDO:51188 SNOMEDCT_US_2023_03_01:723307008 UMLS_CUI:C1865349 disease_ontology DOID:0060640 ethylmalonic encephalopathy DOID:0060640 A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13. url:https://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy url:https://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy url:https://www.ncbi.nlm.nih.gov/pubmed/20528888 A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase. ICD10CM:Q87.8 MIM:612651 ORDO:199332 ECO syndrome disease_ontology DOID:0060641 endocrine-cerebro-osteodysplasia syndrome DOID:0060641 A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase. url:https://www.ncbi.nlm.nih.gov/pubmed/19185282 url:https://www.ncbi.nlm.nih.gov/pubmed/24853502 An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. ICD10CM:Q81.2 MIM:226600 ORDO:79408 RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa disease_ontology DOID:0060642 recessive dystrophic epidermolysis bullosa DOID:0060642 An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. url:https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa url:https://www.ncbi.nlm.nih.gov/pubmed/3307723 url:https://www.ncbi.nlm.nih.gov/pubmed/8513326 A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. GARD:1280 ICD10CM:K83.01 MESH:D015209 MIM:613806 NCI:C4828 ORDO:171 SNOMEDCT_US_2023_03_01:4032000 UMLS_CUI:C0566602 disease_ontology DOID:0060643 primary sclerosing cholangitis DOID:0060643 A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. url:https://www.ncbi.nlm.nih.gov/pubmed/7877651 A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia. MESH:C536123 MIM:600092 ORDO:1422 SNOMEDCT_US_2023_03_01:720851007 UMLS_CUI:C1838654 Nivelon-Nivelon-Mabille syndrome chondrodysplasia-disorder of sex development syndrome disease_ontology DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome DOID:0060644 A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia. url:https://www.ncbi.nlm.nih.gov/pubmed/1342874 An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. ICD10CM:M86.3 MESH:C535456 MIM:259680 ORDO:324964 CRMO chronic multifocal osteomyelitis disease_ontology DOID:0060645 chronic recurrent multifocal osteomyelitis DOID:0060645 An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. url:https://en.wikipedia.org/wiki/Chronic_recurrent_multifocal_osteomyelitis url:https://www.ncbi.nlm.nih.gov/pubmed/11973628 url:https://www.ncbi.nlm.nih.gov/pubmed/4403064 url:https://www.nomidalliance.org/crmo.php CRMO A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. MIM:603523 ORDO:264688 disease_ontology DOID:0060646 congenital chylothorax DOID:0060646 A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. url:https://en.wikipedia.org/wiki/Chylothorax url:https://www.ncbi.nlm.nih.gov/pubmed/416049 A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. MIM:613630 ORDO:465824 cocoon syndrome disease_ontology DOID:0060647 fetal encasement syndrome DOID:0060647 A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. url:https://www.ncbi.nlm.nih.gov/pubmed/20961246 An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye. DOID:0060605 GARD:10025 ICD10CM:Q13.8 MIM:PS107250 ORDO:88632 anterior segment developmental anomaly corneal opacification and other ocular anomalies sclerocornea with other ocular anomalies disease_ontology DOID:0060648 anterior segment dysgenesis DOID:0060648 An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye. url:https://rarediseases.info.nih.gov/diseases/10025/anterior-segment-dysgenesis url:https://www.ncbi.nlm.nih.gov/pubmed/17914436 url:https://www.ncbi.nlm.nih.gov/pubmed/30242500 A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. MIM:217700 CHED disease_ontology DOID:0060649 congenital hereditary endothelial dystrophy of cornea DOID:0060649 A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. url:https://www.ncbi.nlm.nih.gov/pubmed/16767101 CHED An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids. GARD:1855 MESH:C536171 MIM:222730 ORDO:2195 SNOMEDCT_US_2023_03_01:716747007 UMLS_CUI:C1857253 glutamate-aspartate transport defect disease_ontology DOID:0060650 dicarboxylic aminoaciduria DOID:0060650 An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids. url:https://pubmed.ncbi.nlm.nih.gov/18200002/ A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract. ICD10CM:D69.4 MIM:155100 ORDO:182050 disease_ontology DOID:0060651 MYH-9 related disease DOID:0060651 A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract. url:https://ghr.nlm.nih.gov/condition/myh9-related-disorder url:https://www.ncbi.nlm.nih.gov/pubmed/21567368 A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. ICD10CM:D75.0 MIM:133100 ORDO:90042 ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia disease_ontology DOID:0060652 familial erythrocytosis 1 DOID:0060652 A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. url:https://www.ncbi.nlm.nih.gov/pubmed/9292543 ECYT1 A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. MIM:611369 ORDO:137783 Israeli Bedouin type B multiple contracture syndrome disease_ontology DOID:0060653 lethal congenital contracture syndrome 3 MIM:611369 DOID:0060653 A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/17701898 A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23. GARD:12645 MIM:614915 disease_ontology DOID:0060654 lethal congenital contracture syndrome 4 MIM:614915 DOID:0060654 A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23. url:https://www.ncbi.nlm.nih.gov/pubmed/22610851 An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. DOID:1699 ICD10CM:Q80.2 MESH:D017490 MIM:PS242300 NCI:C84805 ORDO:281097 SNOMEDCT_US_2023_03_01:12215009 UMLS_CUI:C0079154 ARCI lamellar ichthyosis non bullous congenital ichthyosiform erythroderma disease_ontology DOID:0060655 autosomal recessive congenital ichthyosis DOID:0060655 An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. url:https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance url:https://www.ncbi.nlm.nih.gov/books/NBK1420/ url:https://www.ncbi.nlm.nih.gov/pubmed/20643494 ARCI An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. GARD:3170 ICD10CM:Q80.2 MIM:242300 ORDO:100976 ORDO:281122 ORDO:313 ARCI1 bathing suit ichthyosis disease_ontology DOID:0060656 autosomal recessive congenital ichthyosis 1 DOID:0060656 An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/7824952 ARCI1 A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp. GARD:5808 ICD10CM:Q00.0 MESH:D000757 MIM:206500 ORDO:1048 disease_ontology DOID:0060668 anencephaly MESH:D000757 DOID:0060668 A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp. url:https://en.wikipedia.org/wiki/Anencephaly url:https://ghr.nlm.nih.gov/condition/anencephaly A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support. MIM:PS116860 cavernous angiomatous malformations cerebral capillary malformations familial cavernous angioma disease_ontology DOID:0060669 cerebral cavernous malformation MIM:PS116860 DOID:0060669 A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support. url:http://hmg.oxfordjournals.org/content/18/5/919.long url:https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13. ICD10CM:Q28.3 MIM:603284 ORDO:221061 disease_ontology DOID:0060670 cerebral cavernous malformation 2 DOID:0060670 A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13. url:https://www.ncbi.nlm.nih.gov/pubmed/14624391 A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1. ICD10CM:Q28.3 MIM:603285 ORDO:221061 disease_ontology DOID:0060671 cerebral cavernous malformation 3 DOID:0060671 A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15543491 A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31. ICD10CM:G31.0 MIM:607485 disease_ontology DOID:0060672 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions DOID:0060672 A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/16862116 url:https://www.ncbi.nlm.nih.gov/pubmed/16983677 A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3. GARD:7377 ICD10CM:Q13.4 MESH:C537884 MIM:604229 ORDO:708 disease_ontology DOID:0060673 Peters anomaly DOID:0060673 A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11403040 url:https://www.ncbi.nlm.nih.gov/pubmed/12614756 url:https://www.ncbi.nlm.nih.gov/pubmed/8162071 A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities. ICD10CM:I47.2 MIM:PS604772 ORDO:3286 disease_ontology DOID:0060674 catecholaminergic polymorphic ventricular tachycardia DOID:0060674 A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities. url:https://www.ncbi.nlm.nih.gov/books/NBK1289 url:https://www.ncbi.nlm.nih.gov/pubmed/17875969 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43. DOID:0110071 ICD10CM:I42.8 ICD10CM:I47.2 MIM:604772 CVPT1 arrhythmogenic right ventricular dysplasia 2 disease_ontology DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 DOID:0060675 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43. url:https://www.ncbi.nlm.nih.gov/pubmed/12093772 url:https://www.ncbi.nlm.nih.gov/pubmed/17875969 CVPT1 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13. ICD10CM:I47.2 MIM:611938 CVPT2 disease_ontology DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 DOID:0060676 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11401939 CVPT2 A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14. ICD10CM:I47.2 MIM:614021 CVPT3 disease_ontology DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 DOID:0060677 A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14. url:https://www.ncbi.nlm.nih.gov/pubmed/17666061 CVPT3 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32. ICD10CM:I47.2 MIM:614916 CVPT4 disease_ontology DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 DOID:0060678 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/23040497 CVPT4 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22. ICD10CM:I47.2 MIM:615441 CVPT5 disease_ontology DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 DOID:0060679 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22. url:https://www.ncbi.nlm.nih.gov/pubmed/22422768 CVPT5 An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma. MESH:C563184 MIM:600510 glaucoma-related pigment dispersion syndrome pigment-dispersion type glaucoma disease_ontology DOID:0060680 pigment dispersion syndrome DOID:0060680 An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma. url:https://www.ncbi.nlm.nih.gov/pubmed/10192392 url:https://www.ncbi.nlm.nih.gov/pubmed/3947295 A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. GARD:11918 MESH:C579932 MIM:PS600513 ORDO:98784 ENFL disease_ontology DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy DOID:0060681 A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. url:https://www.ncbi.nlm.nih.gov/pubmed/7895015 ENFL An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. MIM:600513 ENFL1 nocturnal frontal lobe epilepsy 1 disease_ontology DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 DOID:0060682 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/7550350 ENFL1 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. MIM:603204 ENFL2 nocturnal frontal lobe epilepsy 2 disease_ontology DOID:0060683 autosomal dominant nocturnal frontal lobe epilepsy 2 DOID:0060683 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. url:https://www.ncbi.nlm.nih.gov/pubmed/9758605 ENFL2 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. MIM:605375 ENFL3 nocturnal frontal lobe epilepsy 3 disease_ontology DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 DOID:0060684 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. url:https://www.ncbi.nlm.nih.gov/pubmed/11062464 ENFL3 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. MIM:610353 ENFL4 nocturnal frontal lobe epilepsy 4 disease_ontology DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 DOID:0060685 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. url:https://www.ncbi.nlm.nih.gov/pubmed/16826524 ENFL4 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. MIM:615005 ENFL5 nocturnal frontal lobe epilepsy 5 disease_ontology DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 DOID:0060686 An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/23086396 ENFL5 A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain. ICD10CM:Q28.2 MESH:D002538 MIM:108010 ORDO:46724 UMLS_CUI:C0007772 cerebral arteriovenous malformation intracranial arteriovenous malformation disease_ontology DOID:0060688 arteriovenous malformations of the brain DOID:0060688 A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain. url:https://www.ncbi.nlm.nih.gov/pubmed/7193302 An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3. ICD10CM:L65.8 MESH:C565924 MIM:209500 ORDO:86819 papular atrichia disease_ontology DOID:0060689 atrichia with papular lesions DOID:0060689 An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10205263 An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. ICD10CM:H90.3 MIM:609129 AUNA1 NSDAN nonsyndromic dominant auditory neuropathy disease_ontology DOID:0060690 autosomal dominant auditory neuropathy 1 DOID:0060690 An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. url:https://www.ncbi.nlm.nih.gov/pubmed/15520414 url:https://www.ncbi.nlm.nih.gov/pubmed/20624953 AUNA1 NSDAN A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. ICD10CM:D69.4 MIM:187800 ORDO:140957 autosomal dominant Glanzmann thrombasthenia autosomal dominant thrombasthenia of Glanzmann and Naegeli disease_ontology DOID:0060691 platelet-type bleeding disorder 16 DOID:0060691 A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. url:https://www.ncbi.nlm.nih.gov/pubmed/18065693 url:https://www.ncbi.nlm.nih.gov/pubmed/21454453 url:https://www.ncbi.nlm.nih.gov/pubmed/9834222 A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q. ICD10CM:D69.8 MIM:609821 ORDO:36355 ADP platelet receptor P2Y12 defect P2Y12 defect disease_ontology DOID:0060692 platelet-type bleeding disorder 8 DOID:0060692 A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q. url:https://www.ncbi.nlm.nih.gov/pubmed/11196645 url:https://www.ncbi.nlm.nih.gov/pubmed/20966167 An amino acid metabolic disorder characterized by recessive X-linked inheritance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. ICD10CM:E70.8 MESH:C563156 MIM:300615 ORDO:3057 monoamine oxidase A deficiency disease_ontology DOID:0060693 Brunner Syndrome DOID:0060693 An amino acid metabolic disorder characterized by recessive X-linked inheritance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/8211186 url:https://www.ncbi.nlm.nih.gov/pubmed/8503438 An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3. ICD10CM:G11.0 MESH:C563363 MIM:601238 ORDO:94122 Cayman cerebellar ataxia disease_ontology DOID:0060694 Cayman type cerebellar ataxia DOID:0060694 An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/14556008 url:https://www.ncbi.nlm.nih.gov/pubmed/8845847 A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. GARD:3129 ICD10CM:G25.8 MESH:D000071017 MIM:PS149400 ORDO:3197 Kok disease congenital stiff man syndrome familial startle disease hereditary hyperekplexia startle disease disease_ontology DOID:0060695 hyperekplexia GARD:3129 DOID:0060695 A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. url:https://www.ncbi.nlm.nih.gov/pubmed/12427512 url:https://www.ncbi.nlm.nih.gov/pubmed/1334371 A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. ICD10CM:G25.8 MESH:D000071017 MIM:149400 ORDO:3197 HKPX1 disease_ontology DOID:0060696 hyperekplexia 1 DOID:0060696 A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. url:https://www.ncbi.nlm.nih.gov/pubmed/7881416 url:https://www.ncbi.nlm.nih.gov/pubmed/8298642 HKPX1 A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32. ICD10CM:G25.8 MIM:614619 ORDO:3197 HKPX2 disease_ontology DOID:0060697 hyperekplexia 2 DOID:0060697 A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32. url:https://www.ncbi.nlm.nih.gov/pubmed/11929858 url:https://www.ncbi.nlm.nih.gov/pubmed/21391991 HKPX2 A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. ICD10CM:G25.8 MIM:614618 ORDO:3197 HKPX3 disease_ontology DOID:0060698 hyperekplexia 3 DOID:0060698 A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/16751771 url:https://www.ncbi.nlm.nih.gov/pubmed/22700964 HKPX3 A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion. GARD:10828 ICD10CM:E83.5 MIM:PS145980 ORDO:405 FBH FBHH FHH familial benign hypercalcemia familial benign hypocalciuric hypercalcemia disease_ontology DOID:0060699 familial hypocalciuric hypercalcemia DOID:0060699 A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion. url:https://www.ncbi.nlm.nih.gov/pubmed/19809483 FBH FBHH FHH A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. ICD10CM:E83.5 MIM:145980 ORDO:93372 FHH type 1 HHC1 familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia type I hypocalciuric hypercalcemia type I disease_ontology DOID:0060700 familial hypocalciuric hypercalcemia 1 DOID:0060700 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. url:https://www.ncbi.nlm.nih.gov/pubmed/7916660 HHC1 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. GARD:9758 ICD10CM:E83.5 MIM:145981 ORDO:101049 FHH type 2 HHC2 familial hypocalciuric hypercalcemia type 2 hypocalciuric hypercalcemia type II disease_ontology DOID:0060701 familial hypocalciuric hypercalcemia 2 DOID:0060701 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/23802516 HHC2 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. GARD:2878 ICD10CM:E83.5 MIM:600740 ORDO:101050 FHH type 3 HHC3 familial hypocalciuric hypercalcemia type 3 hypocalciuric hypercalcemia type III disease_ontology DOID:0060702 familial hypocalciuric hypercalcemia 3 DOID:0060702 A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/23222959 HHC3 A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. GARD:7097 MESH:C537369 MIM:602849 NCI:C84904 ORDO:53271 SNOMEDCT_US_2023_03_01:440350001 UMLS_CUI:C1864436 FGFR3-related craniosynostosis disease_ontology DOID:0060703 Muenke Syndrome DOID:0060703 A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. url:https://www.ncbi.nlm.nih.gov/pubmed/18000976 url:https://www.ncbi.nlm.nih.gov/pubmed/9042914 A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. MIM:PS308240 ORDO:538963 Combined immunodeficiency due to ITK deficiency disease_ontology DOID:0060704 lymphoproliferative syndrome DOID:0060704 A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. url:https://www.ncbi.nlm.nih.gov/pubmed/198660 url:https://www.ncbi.nlm.nih.gov/pubmed/22197273 A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25. GARD:7906 ICD10CM:D82.3 MIM:308240 XLP1 disease_ontology DOID:0060705 X-linked lymphoproliferative syndrome 1 DOID:0060705 A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25. url:https://www.ncbi.nlm.nih.gov/pubmed/6283885 url:https://www.ncbi.nlm.nih.gov/pubmed/9771704 XLP1 A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25. GARD:10916 ICD10CM:D82.3 MIM:300635 XIAP deficiency XLP2 disease_ontology DOID:0060706 X-linked lymphoproliferative syndrome 2 DOID:0060706 A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25. url:https://www.ncbi.nlm.nih.gov/pubmed/17080092 XLP2 A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32. ICD10CM:D47.9 MIM:613011 LPFS1 disease_ontology DOID:0060707 lymphoproliferative syndrome 1 DOID:0060707 A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32. url:https://www.ncbi.nlm.nih.gov/pubmed/19425169 url:https://www.ncbi.nlm.nih.gov/pubmed/21109689 LPFS1 A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. ICD10CM:D47.9 MIM:615122 CD27 deficiency LPFS2 disease_ontology DOID:0060708 lymphoproliferative syndrome 2 DOID:0060708 A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/22197273 url:https://www.ncbi.nlm.nih.gov/pubmed/22801960 LPFS2 An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. ICD10CM:Q80.2 MIM:242100 ARCI2 BROCQ congenital ichthyosiform erythroderma nonbullous form NCIE1 nonbullous congenital ichthyosiform erythroderma 1 disease_ontology DOID:0060710 autosomal recessive congenital ichthyosis 2 DOID:0060710 An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11773004 url:https://www.ncbi.nlm.nih.gov/pubmed/16116617 ARCI2 NCIE1 An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. ICD10CM:Q80.2 MIM:606545 ARCI3 lamellar ichthyosis 5 disease_ontology DOID:0060711 autosomal recessive congenital ichthyosis 3 DOID:0060711 An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11398099 url:https://www.ncbi.nlm.nih.gov/pubmed/11773004 ARCI3 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. ICD10CM:Q80.2 MIM:601277 ARCI4A ICR2B ichthyosis congenita IIB lamellar ichthyosis 2 disease_ontology DOID:0060712 autosomal recessive congenital ichthyosis 4A DOID:0060712 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. url:https://www.ncbi.nlm.nih.gov/pubmed/10094194 url:https://www.ncbi.nlm.nih.gov/pubmed/20672373 ARCI4A ICR2B An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. ICD10CM:Q80.4 MIM:242500 ORDO:457 ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis disease_ontology DOID:0060713 autosomal recessive congenital ichthyosis 4B DOID:0060713 An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. url:https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis url:https://www.ncbi.nlm.nih.gov/pubmed/21339420 ARCI4B An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. ICD10CM:Q80.2 MIM:604777 ARCI5 autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis disease_ontology DOID:0060714 autosomal recessive congenital ichthyosis 5 DOID:0060714 An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/10712223 url:https://www.ncbi.nlm.nih.gov/pubmed/16436457 ARCI5 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. ICD10CM:Q80.2 MIM:612281 ARCI6 disease_ontology DOID:0060715 autosomal recessive congenital ichthyosis 6 DOID:0060715 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. url:https://www.ncbi.nlm.nih.gov/pubmed/16436457 url:https://www.ncbi.nlm.nih.gov/pubmed/17557927 ARCI6 An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1. ICD10CM:Q80.2 MIM:615022 ARCI7 disease_ontology DOID:0060716 autosomal recessive congenital ichthyosis 7 DOID:0060716 An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16117785 ARCI7 An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. ICD10CM:Q80.2 MIM:613943 ARCI8 lamellar ichthyosis 4 late-onset lamellar ichthyosis disease_ontology DOID:0060717 autosomal recessive congenital ichthyosis 8 DOID:0060717 An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. url:https://www.ncbi.nlm.nih.gov/pubmed/21439540 ARCI8 An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26. ICD10CM:Q80.2 MIM:615023 ARCI9 disease_ontology DOID:0060718 autosomal recessive congenital ichthyosis 9 DOID:0060718 An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26. url:https://www.ncbi.nlm.nih.gov/pubmed/21093221 url:https://www.ncbi.nlm.nih.gov/pubmed/23754960 ARCI9 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21. ICD10CM:Q80.2 MIM:615024 ARCI10 disease_ontology DOID:0060719 autosomal recessive congenital ichthyosis 10 DOID:0060719 An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/22246504 ARCI10 An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. ICD10CM:Q80.8 MIM:602400 IFAH syndrome IHS autosomal recessive ichthyosis with hypotrichosis hypotrichosis-congenital ichthyosis syndrome ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis ichthyosis-follicular atrophoderma-hypotrichosis syndrome ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ichthyosis-hypotrichosis syndrome disease_ontology DOID:0060720 autosomal recessive congenital ichthyosis 11 DOID:0060720 An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. url:https://www.ncbi.nlm.nih.gov/pubmed/17273967 url:https://www.ncbi.nlm.nih.gov/pubmed/18843291 url:https://www.ncbi.nlm.nih.gov/pubmed/9450882 IHS A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 3p24. ICD10CM:E77.8 MESH:C000626124 MIM:615273 ORDO:404454 NGLY1-CDDG NGLY1-deficiency congenital disorder of glycosylation type Iv deficiency of N-glycanase 1 disease_ontology DOID:0060728 congenital disorder of deglycosylation 1 DOID:0060728 A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 3p24. url:https://www.ncbi.nlm.nih.gov/pubmed/24651605 url:https://www.ncbi.nlm.nih.gov/pubmed/27388694 NGLY1-CDDG A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. ICD10CM:G24.1 MIM:128100 ORDO:256 dystonia musculorum deformans disease_ontology DOID:0060730 torsion dystonia 1 DOID:0060730 A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/11912106 url:https://www.ncbi.nlm.nih.gov/pubmed/9288096 An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes. GARD:8535 ICD10CM:G47.3 MESH:C536209 MIM:209880 ORDO:661 CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome disease_ontology DOID:0060731 congenital central hypoventilation syndrome DOID:0060731 An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes. url:https://www.ncbi.nlm.nih.gov/pubmed/11840487 url:https://www.ncbi.nlm.nih.gov/pubmed/12640453 url:https://www.ncbi.nlm.nih.gov/pubmed/8135282 url:https://www.ncbi.nlm.nih.gov/pubmed/8696331 CCHS A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9. ICD10CM:Q93.5 MESH:C538024 MIM:158170 ORDO:261112 9p syndrome Alfi syndrome monosomy 9p syndrome disease_ontology DOID:0060732 chromosome 9p deletion syndrome DOID:0060732 A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9. url:https://www.ncbi.nlm.nih.gov/pubmed/18452192 url:https://www.ncbi.nlm.nih.gov/pubmed/4541805 url:https://www.ncbi.nlm.nih.gov/pubmed/6985017 A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. ICD10CM:Q81.8 MIM:226730 ORDO:79403 Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome disease_ontology DOID:0060733 junctional epidermolysis bullosa with pyloric atresia DOID:0060733 A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. url:https://www.ncbi.nlm.nih.gov/pubmed/16473856 url:https://www.ncbi.nlm.nih.gov/pubmed/7545057 url:https://www.ncbi.nlm.nih.gov/pubmed/9185503 JEB-PA An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases. ICD10CM:Q81.0 MIM:131760 ORDO:79396 EBS-gen sev EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex disease_ontology DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type DOID:0060735 An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases. url:https://www.ncbi.nlm.nih.gov/books/NBK1369/ url:https://www.ncbi.nlm.nih.gov/pubmed/1372711 url:https://www.ncbi.nlm.nih.gov/pubmed/1717157 url:https://www.ncbi.nlm.nih.gov/pubmed/18374450 EBSDM An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24. ICD10CM:Q81.0 MIM:131950 ORDO:79401 EBS-O EBS-Og EBSOG disease_ontology DOID:0060736 epidermolysis bullosa simplex Ogna type DOID:0060736 An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24. url:https://www.ncbi.nlm.nih.gov/pubmed/11851880 EBS-O EBS-Og EBSOG A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. ICD10CM:Q81.1 MIM:226700 ORDO:79404 Herlitz type epidermolysis bullosa junctionalis Herlitz-Pearson-type epidermolysis bullosa JEB-H JEB-Herlitz type epidermolysis bullosa letalis junctional epidermolysis bullosa generalisata gravis junctional epidermolysis bullosa, Herlitz-Pearson type disease_ontology DOID:0060737 junctional epidermolysis bullosa Herlitz type DOID:0060737 A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. url:https://www.ncbi.nlm.nih.gov/pubmed/18374450 url:https://www.ncbi.nlm.nih.gov/pubmed/8012393 url:https://www.ncbi.nlm.nih.gov/pubmed/8586427 JEB-H A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa. ICD10CM:Q81.8 MIM:226650 ORDO:79402 ORDO:89840 GABEB JEB-nH gen JEN-nH generalized atrophic benign epidermolysis bullosa generalized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa, Disentis type disease_ontology DOID:0060738 junctional epidermolysis bullosa non-Herlitz type DOID:0060738 A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa. url:https://www.ncbi.nlm.nih.gov/pubmed/10792571 url:https://www.ncbi.nlm.nih.gov/pubmed/11810295 url:https://www.ncbi.nlm.nih.gov/pubmed/18374450 url:https://www.ncbi.nlm.nih.gov/pubmed/7550320 url:https://www.ncbi.nlm.nih.gov/pubmed/7706760 GABEB JEB-nH gen JEN-nH A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15. GARD:2594 ICD10CM:Q51.2 MIM:140000 ORDO:2438 HFGS hand-foot-uterus syndrome disease_ontology DOID:0060739 hand-foot-genital syndrome DOID:0060739 A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15. url:https://www.ncbi.nlm.nih.gov/pubmed/5450271 url:https://www.ncbi.nlm.nih.gov/pubmed/9020844 HFGS A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3. ICD10CM:E71.1 MESH:C565390 MIM:251000 ORDO:27 methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria disease_ontology DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency DOID:0060740 A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/1975493 url:https://www.ncbi.nlm.nih.gov/pubmed/1977311 A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene. ICD10CM:E71.1 MIM:613646 ORDO:280183 methylmalonic acidemia, TCblR type methylmalonic aciduria due to transcobalamin receptor defect disease_ontology DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect DOID:0060741 A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/20524213 A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31. ICD10CM:E71.1 MIM:251100 ORDO:79310 methylmalonic aciduria cblA type methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type disease_ontology DOID:0060742 methylmalonic acidemia cblA type DOID:0060742 A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31. url:https://www.ncbi.nlm.nih.gov/pubmed/12438653 url:https://www.ncbi.nlm.nih.gov/pubmed/5686220 A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24. ICD10CM:E71.1 MIM:251110 ORDO:79311 methylmalonic aciduria cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type disease_ontology DOID:0060743 methylmalonic acidemia cblB type DOID:0060743 A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/12471062 url:https://www.ncbi.nlm.nih.gov/pubmed/7213387 A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. GARD:4271 ICD10CM:E07.1 MESH:C536648 MIM:274600 NCI:C121745 ORDO:705 SNOMEDCT_US_2023_03_01:70348004 UMLS_CUI:C0271829 TDH2B congenital hypothyroidism due to dyshormonogenesis 2B deafness with goiter genetic defect in thyroid hormonogenesis 2B goiter-deafness syndrome thyroid dyshormonogenesis 2B disease_ontology DOID:0060744 Pendred Syndrome DOID:0060744 A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. url:https://www.ncbi.nlm.nih.gov/pubmed/9398842 TDH2B A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16. GARD:1912 ICD10CM:H35.5 MESH:C535602 MIM:126600 ORDO:75376 DHRD Doyne honeycomb degeneration of retina disease_ontology DOID:0060745 Doyne honeycomb retinal dystrophy DOID:0060745 A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16. url:https://www.ncbi.nlm.nih.gov/pubmed/10369267 url:https://www.ncbi.nlm.nih.gov/pubmed/11384588 DHRD A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. ICD10CM:H35.5 MESH:C563034 MIM:126700 ORDO:75376 cuticular drusen drusen of bruch membrane early adult-onset grouped drusen disease_ontology DOID:0060746 basal laminar drusen DOID:0060746 A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. url:https://www.ncbi.nlm.nih.gov/pubmed/18252232 url:https://www.ncbi.nlm.nih.gov/pubmed/5448127 A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. GARD:9182 ICD10CM:Q87.8 MIM:607323 ORDO:93293 DR syndrome Duane anomaly with radial ray abnormalities and deafness Okihiro syndrome acrorenocular syndrome disease_ontology DOID:0060747 Duane-radial ray syndrome DOID:0060747 A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/12393809 url:https://www.ncbi.nlm.nih.gov/pubmed/12843316 url:https://www.ncbi.nlm.nih.gov/pubmed/8882787 A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. MIM:600512 ORDO:101046 ETL1 partial epilepsy with auditory features disease_ontology DOID:0060748 familial temporal lobe epilepsy 1 DOID:0060748 A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/10851389 url:https://www.ncbi.nlm.nih.gov/pubmed/12205652 url:https://www.ncbi.nlm.nih.gov/pubmed/15079010 ETL1 A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26. MIM:615697 ORDO:163717 ETL6 disease_ontology DOID:0060749 familial temporal lobe epilepsy 6 DOID:0060749 A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26. url:https://www.ncbi.nlm.nih.gov/pubmed/24021842 ETL6 A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3. MIM:611630 ORDO:163717 FMTLE familial mesial temporal lobe epilepsy disease_ontology DOID:0060750 familial temporal lobe epilepsy 3 DOID:0060750 A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17377072 FMTLE A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22. MIM:616436 ORDO:101046 ETL7 disease_ontology DOID:0060751 familial temporal lobe epilepsy 7 DOID:0060751 A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22. url:https://www.ncbi.nlm.nih.gov/pubmed/26046367 ETL7 A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13. MIM:614417 ORDO:163717 ETL5 disease_ontology DOID:0060752 familial temporal lobe epilepsy 5 DOID:0060752 A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13. url:https://www.ncbi.nlm.nih.gov/pubmed/21922598 ETL5 A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22. MIM:611631 ORDO:98819 EPOLM ETL4 occipitotemporal lobe epilepsy and migraine with aura disease_ontology DOID:0060753 familial temporal lobe epilepsy 4 DOID:0060753 A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22. url:https://www.ncbi.nlm.nih.gov/pubmed/17460155 url:https://www.ncbi.nlm.nih.gov/pubmed/18332351 EPOLM ETL4 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13. MIM:616461 ORDO:101046 ETL8 disease_ontology DOID:0060754 familial temporal lobe epilepsy 8 DOID:0060754 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/25691535 ETL8 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3. MIM:608096 ORDO:98819 ETL2 disease_ontology DOID:0060755 familial temporal lobe epilepsy 2 DOID:0060755 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/12011300 url:https://www.ncbi.nlm.nih.gov/pubmed/15342703 ETL2 A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21. ICD10CM:M85.2 MIM:269500 ORDO:3152 SOST1 disease_ontology DOID:0060756 sclerosteosis 1 DOID:0060756 A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21. url:https://www.ncbi.nlm.nih.gov/pubmed/11179006 SOST1 A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11. ICD10CM:M85.2 MIM:614305 ORDO:3152 SOST2 disease_ontology DOID:0060757 sclerosteosis 2 DOID:0060757 A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11. url:https://www.ncbi.nlm.nih.gov/pubmed/21471202 SOST2 A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. GARD:10578 MIM:605258 NCI:C129074 ORDO:101089 UMLS_CUI:C1720956 AID deficiency HIGM2 activation-induced cytidine deaminase deficiency hyper-IgM syndrome type 2 disease_ontology DOID:0060758 immunodeficiency with hyper-IgM type 2 ORDO:183666 GARD:10578 MIM:605258 NCI:C129074 ORDO:101089 UMLS_CUI:C1720956 DOID:0060758 A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11007475 HIGM2 A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1. GARD:10581 MIM:608106 ORDO:101092 UMLS_CUI:C1720958 HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase disease_ontology DOID:0060759 immunodeficiency with hyper IgM type 5 ORDO:183666 GARD:10581 MIM:608106 ORDO:101092 UMLS_CUI:C1720958 DOID:0060759 A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1. url:https://www.ncbi.nlm.nih.gov/pubmed/12958596 HIGM5 A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. GARD:10580 MESH:C564277 MIM:608184 NCI:C564277 ORDO:101091 UMLS_CUI:C1842413 HIGM4 hyper-IgM syndrome type 4 disease_ontology DOID:0060760 immunodeficiency with hyper-IgM type 4 ORDO:183666 GARD:10580 MESH:C564277 MIM:608184 NCI:C564277 ORDO:101091 UMLS_CUI:C1842413 DOID:0060760 A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. url:https://www.ncbi.nlm.nih.gov/pubmed/12840068 HIGM4 A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). MIM:600080 familial CML-like syndrome disease_ontology DOID:0060761 familial chronic myelocytic leukemia-like syndrome DOID:0060761 A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). url:https://www.ncbi.nlm.nih.gov/pubmed/8086739 A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life. GARD:1516 MESH:C536920 MIM:PS275210 ORDO:1662 SNOMEDCT_US_2023_03_01:400128006 UMLS_CUI:C0406585 Infantile restrictive dermopathy Lethal tight skin contracture syndrome hyperkeratosis-contracture syndrome lethal restrictive dermopathy tight skin contracture syndrome disease_ontology DOID:0060762 restrictive dermopathy GARD:1516 MESH:C536920 MIM:PS275210 ORDO:1662 SNOMEDCT_US_2023_02_28:400128006 UMLS_CUI:C0406585 DOID:0060762 A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life. url:https://www.ncbi.nlm.nih.gov/pubmed/15317753 url:https://www.ncbi.nlm.nih.gov/pubmed/20101687 A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22. ICD10CM:Q14.1 MIM:312700 ORDO:792 X-linked juvenile retinoschisis X-linked retinoschisis XLRS disease_ontology DOID:0060763 X-linked juvenile retinoschisis 1 DOID:0060763 A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22. url:https://www.ncbi.nlm.nih.gov/pubmed/17172462 url:https://www.ncbi.nlm.nih.gov/pubmed/9326935 XLRS A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. MIM:268310 ORDO:1507 COVESDEM syndrome RRS costovertebral segmentation defect-mesomelia syndrome disease_ontology DOID:0060764 autosomal recessive Robinow syndrome DOID:0060764 A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10932186 url:https://www.ncbi.nlm.nih.gov/pubmed/10932187 RRS A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. MIM:616331 ORDO:3107 DRS2 disease_ontology DOID:0060765 autosomal dominant Robinow syndrome 2 DOID:0060765 A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/25817014 url:https://www.ncbi.nlm.nih.gov/pubmed/26924530 DRS2 A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. MIM:180700 ORDO:3107 DRS1 disease_ontology DOID:0060766 autosomal dominant Robinow syndrome 1 DOID:0060766 A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. url:https://www.ncbi.nlm.nih.gov/pubmed/19918918 url:https://www.ncbi.nlm.nih.gov/pubmed/24716670 DRS1 A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. MIM:616894 ORDO:3107 ORDO:97360 DRS3 disease_ontology DOID:0060767 autosomal dominant Robinow syndrome 3 DOID:0060767 A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. url:https://www.ncbi.nlm.nih.gov/pubmed/26924530 DRS3 A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. GARD:8197 ICD10CM:Q93.5 MESH:D058496 MIM:182290 ORDO:819 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome disease_ontology DOID:0060768 Smith-Magenis syndrome DOID:0060768 A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. url:https://www.ncbi.nlm.nih.gov/books/NBK1310/ url:https://www.ncbi.nlm.nih.gov/pubmed/16845274 url:https://www.ncbi.nlm.nih.gov/pubmed/21844811 url:https://www.ncbi.nlm.nih.gov/pubmed/6745947 A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. ICD10CM:D82.8 MESH:C536781 MIM:601705 ORDO:169095 alymphoid cystic thymic dysgenesis severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome winged helix deficiency disease_ontology DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy DOID:0060769 A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. url:https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy url:https://www.ncbi.nlm.nih.gov/pubmed/10206641 url:https://www.ncbi.nlm.nih.gov/pubmed/8911612 A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. DOID:0060771 ICD10CM:Q20.3 MIM:608808 ORDO:860 D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance disease_ontology DOID:0060770 dextro-looped transposition of the great arteries DOID:0060770 A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. url:https://www.ncbi.nlm.nih.gov/pubmed/11799476 D-TGA DTGA1 A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous missense mutation in the MED13L gene on chromosome 12q24. disease_ontology DOID:0060771 obsolete dextro-looped transposition of the great arteries 1 true DOID:0060771 A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous missense mutation in the MED13L gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/14638541 A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. ICD10CM:Q20.3 MIM:613854 DTGA3 dextro-looped transposition of the great arteries 3 disease_ontology DOID:0060772 multiple types of congenital heart defects 6 DOID:0060772 A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/17924340 DTGA3 A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. GARD:375 MIM:225060 ORDO:3253 CLPED1 Margarita type of ectodermal dysplasia Zlotogora-Zilberman-Tenenbaum syndrome cleft lip/palate-syndactyly-pili torti syndrome syndactyly-ectodermal dysplasia-cleft/lip palate disease_ontology DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome DOID:0060773 A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/3035184 url:https://www.ncbi.nlm.nih.gov/pubmed/9758630 CLPED1 A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth. MIM:PS214700 disease_ontology DOID:0060774 congenital diarrhea DOID:0060774 A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth. url:https://www.ncbi.nlm.nih.gov/pubmed/22605972 url:https://www.ncbi.nlm.nih.gov/pubmed/30894704 A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. GARD:7039 ICD10CM:P78.3 MESH:C537470 MIM:251850 ORDO:2290 Davidson disease MVD congenital familial protracted diarrhea with enterocyte brush-border abnormalities congenital microvillus atrophy diarrhea 2 with microvillus atrophy intractable diarrhea of infancy disease_ontology DOID:0060775 microvillus inclusion disease DOID:0060775 A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. url:https://www.ncbi.nlm.nih.gov/pubmed/18724368 MVD A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21. ICD10CM:P78.3 MIM:613217 ORDO:92050 DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy disease_ontology DOID:0060776 congenital diarrhea 5 with tufting enteropathy DOID:0060776 A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21. url:https://www.ncbi.nlm.nih.gov/pubmed/18572020 url:https://www.ncbi.nlm.nih.gov/pubmed/23462293 DIAR5 A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15. ICD10CM:P78.3 MIM:616868 ORDO:103908 DIAR8 disease_ontology DOID:0060777 congenital secretory sodium diarrhea 8 DOID:0060777 A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15. url:https://www.ncbi.nlm.nih.gov/pubmed/26358773 DIAR8 A congenital diarrhea characterized by early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas that has_material_basis_in homozygous or compound heterozygous mutation in the DGAT1 gene on chromosome 8q24. ICD10CM:P78.3 MIM:615863 ORDO:329242 congenital chronic diarrhea with exudative enteropathy congenital chronic diarrhea with protein-losing enteropathy congenital chronic diarrhoea with exudative enteropathy congenital chronic diarrhoea with protein-losing enteropathy congenital diarrhoea 7 with exudative enteropathy disease_ontology DOID:0060778 congenital diarrhea 7 with exudative enteropathy DOID:0060778 A congenital diarrhea characterized by early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas that has_material_basis_in homozygous or compound heterozygous mutation in the DGAT1 gene on chromosome 8q24. url:https://pubmed.ncbi.nlm.nih.gov/31778854/ url:https://www.ncbi.nlm.nih.gov/pubmed/23114594 A congenital diarrhea characterized by severe intestinal malabsorption and an absence of enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3. ICD10CM:P78.3 MIM:610370 ORDO:83620 congenital malabsorptive diarrhea due to paucity of enteroendocrine cells congenital malabsorptive diarrhoea 4 congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells enteric anendocrinosis disease_ontology DOID:0060779 congenital malabsorptive diarrhea 4 DOID:0060779 A congenital diarrhea characterized by severe intestinal malabsorption and an absence of enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3. url:https://pubmed.ncbi.nlm.nih.gov/36149814/ A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12. ICD10CM:P78.3 MIM:614616 ORDO:314373 chronic diarrhea due to guanylate cyclase 2C overactivity chronic diarrhoea due to guanylate cyclase 2C overactivity congenital diarrhoea 6 disease_ontology DOID:0060780 congenital diarrhea 6 DOID:0060780 A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12. url:https://www.ncbi.nlm.nih.gov/pubmed/22436048 A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13. ICD10CM:P78.3 MIM:270420 ORDO:103908 congenital secretory sodium diarrhea 3 syndromic congenital secretory sodium diarrhea 3 with or without other congenital anomalies congenital secretory sodium diarrhoea 3 congenital secretory sodium diarrhoea 3 syndromic congenital secretory sodium diarrhoea 3 with or without other congenital anomalies disease_ontology DOID:0060781 congenital secretory sodium diarrhea 3 DOID:0060781 A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/19185281 A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). MESH:C536189 NCI:C148261 ORDO:1896 SNOMEDCT_US_2023_03_01:39788007 UMLS_CUI:C0406704 Rudiger syndrome 1 Walker-Clodius syndrome ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome ectrodactyly-ectodermal dysplasia-clefting syndrome disease_ontology DOID:0060782 EEC syndrome MESH:C536189 DOID:0060782 A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). url:https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. MESH:C536189 MIM:604292 NCI:C148261 ORDO:1896 SNOMEDCT_US_2023_03_01:39788007 UMLS_CUI:C0406704 EEC syndrome 3 EEC3 disease_ontology DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 DOID:0060783 An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. url:https://www.ncbi.nlm.nih.gov/pubmed/10535733 url:https://www.ncbi.nlm.nih.gov/pubmed/8737655 EEC3 An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3. MESH:C536189 MIM:129900 NCI:C148261 ORDO:1896 SNOMEDCT_US_2023_03_01:39788007 UMLS_CUI:C0406704 EEC syndrome 1 EEC1 disease_ontology DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 DOID:0060784 An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/1424230 url:https://www.ncbi.nlm.nih.gov/pubmed/5454938 EEC1 An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes. GARD:10587 MIM:169500 SNOMEDCT_US_2023_03_01:448054001 UMLS_CUI:C3164344 ADLD adult-onset autosomal dominant leukodystrophy autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease disease_ontology DOID:0060785 typical adult-onset autosomal dominant demyelinating leukodystrophy DOID:0060785 An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes. url:https://www.ncbi.nlm.nih.gov/books/NBK338165/ url:https://www.ncbi.nlm.nih.gov/pubmed/16951681 url:https://www.ncbi.nlm.nih.gov/pubmed/19151023 ADLD A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging. MIM:PS312080 HLD disease_ontology DOID:0060786 hypomyelinating leukodystrophy DOID:0060786 A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging. url:https://pubmed.ncbi.nlm.nih.gov/24916848/ url:https://pubmed.ncbi.nlm.nih.gov/25649058/ url:https://pubmed.ncbi.nlm.nih.gov/27234264/ HLD A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42. ICD10CM:E75.2 MIM:608804 ORDO:280282 HLD2 PMLD1 Pelizaeus-Merzbacher-like disease 1 Pelizaeus-Merzbacher-like disease due to GJC2 mutation disease_ontology DOID:0060787 hypomyelinating leukodystrophy 2 DOID:0060787 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/15192806 url:https://www.ncbi.nlm.nih.gov/pubmed/18094336 HLD2 PMLD1 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42. MIM:616420 HLD10 disease_ontology DOID:0060788 hypomyelinating leukodystrophy 10 DOID:0060788 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/25865492 url:https://www.ncbi.nlm.nih.gov/pubmed/27130255 HLD10 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33. ICD10CM:E75.2 MIM:612233 ORDO:280288 HLD4 MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation mitochondrial HSP60 chaperonopathy disease_ontology DOID:0060789 hypomyelinating leukodystrophy 4 DOID:0060789 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33. url:https://www.ncbi.nlm.nih.gov/pubmed/18571143 HLD4 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. ICD10CM:E75.2 MIM:260600 ORDO:280293 HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation disease_ontology DOID:0060790 hypomyelinating leukodystrophy 3 DOID:0060790 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21092922 url:https://www.ncbi.nlm.nih.gov/pubmed/24958424 HLD3 A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. ICD10CM:E75.2 MIM:616140 ORDO:438114 HLD9 RARS-related autosomal recessive hypomyelinating leukodystrophy disease_ontology DOID:0060791 hypomyelinating leukodystrophy 9 DOID:0060791 A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. url:https://www.ncbi.nlm.nih.gov/pubmed/24777941 HLD9 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. ICD10CM:G11.1 MIM:616494 HLD11 disease_ontology DOID:0060792 hypomyelinating leukodystrophy 11 DOID:0060792 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/26151409 HLD11 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. ICD10CM:G37.8 MIM:610532 ORDO:85163 HLD5 hypomyelination-congenital cataract syndrome disease_ontology DOID:0060793 hypomyelinating leukodystrophy 5 DOID:0060793 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. url:https://www.ncbi.nlm.nih.gov/pubmed/16951682 url:https://www.ncbi.nlm.nih.gov/pubmed/17683097 HLD5 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. ICD10CM:G11.1 MIM:607694 ORDO:137639 ORDO:447893 ORDO:447896 ORDO:77295 HLD7 TACH syndrome ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy dentoleukoencephalopathy hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome leukodystrophy with oligodontia leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome tremor-ataxia-central hypomyelination syndrome disease_ontology DOID:0060794 hypomyelinating leukodystrophy 7 DOID:0060794 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. url:https://www.ncbi.nlm.nih.gov/pubmed/12605447 url:https://www.ncbi.nlm.nih.gov/pubmed/21855841 HLD7 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14. MIM:616881 HLD13 disease_ontology DOID:0060795 hypomyelinating leukodystrophy 13 DOID:0060795 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14. url:https://www.ncbi.nlm.nih.gov/pubmed/26545878 HLD13 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. MIM:616683 HLD12 disease_ontology DOID:0060796 hypomyelinating leukodystrophy 12 DOID:0060796 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/26307567 url:https://www.ncbi.nlm.nih.gov/pubmed/27120463 HLD12 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23. ICD10CM:G11.1 MIM:614381 HLD8 disease_ontology DOID:0060797 hypomyelinating leukodystrophy 8 DOID:0060797 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23. url:https://www.ncbi.nlm.nih.gov/pubmed/22036171 url:https://www.ncbi.nlm.nih.gov/pubmed/22036172 HLD8 A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13. ICD10CM:E75.2 MIM:612438 ORDO:139441 H-ABC HABC HLD6 hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum disease_ontology DOID:0060798 hypomyelinating leukodystrophy 6 DOID:0060798 A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/23582646 H-ABC HABC HLD6 A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. DOID:0080713 GARD:9781 MESH:C537723 MIM:300260 NCI:C126747 ORDO:85281 SNOMEDCT_US_2023_03_01:702816000 UMLS_CUI:C1846058 Lubs X-linked mental retardation syndrome MECP2 duplication syndrome MRXSL X-linked intellectual disability-hypotonia-recurrent Infections syndrome mental retardation, X-linked, syndromic, Lubs type mental retardation, X-linked, with recurrent respiratory infections disease_ontology DOID:0060799 syndromic X-linked intellectual disability Lubs type DOID:0060799 A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. url:https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/15689435 url:https://www.ncbi.nlm.nih.gov/pubmed/20425814 MRXSL A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. MESH:C535773 MIM:304340 NCI:C124839 ORDO:1568 ORDO:85335 SNOMEDCT_US_2023_03_01:719139003 UMLS_CUI:C0796254 Fried syndrome MRX59 MRXS21 Mental retardation, X-linked syndromic 5 Pettigrew syndrome X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome X-linked mental retardation 59 X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures syndromic X-linked mental retardation 21 syndromic X-linked mental retardation Fried type disease_ontology DOID:0060800 syndromic X-linked intellectual disability 5 DOID:0060800 A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. url:https://www.ncbi.nlm.nih.gov/pubmed/19377476 url:https://www.ncbi.nlm.nih.gov/pubmed/23756445 MRX59 MRXS21 A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22. MESH:C537451 MIM:300148 ORDO:85282 SNOMEDCT_US_2023_03_01:722037004 UMLS_CUI:C1846278 MRXS20 MRXS25 X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity syndromic X-linked mental retardation 20 syndromic X-linked mental retardation 25 disease_ontology DOID:0060801 MEHMO syndrome DOID:0060801 A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22. url:https://www.ncbi.nlm.nih.gov/pubmed/12032729 url:https://www.ncbi.nlm.nih.gov/pubmed/9781023 MRXS20 MRXS25 A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22. GARD:5615 ICD10CM:Q87.8 MIM:309583 ORDO:3063 SRS Snyder-Robinson mental retardation syndrome Snyder-Robinson syndrome mental retardation, X-linked, Snyder-Robinson type spermine synthase deficiency disease_ontology DOID:0060802 syndromic X-linked intellectual disability Snyder type DOID:0060802 A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22. url:https://www.ncbi.nlm.nih.gov/pubmed/14508504 url:https://www.ncbi.nlm.nih.gov/pubmed/23696453 SRS A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. MIM:300858 ORDO:289483 X-linked mental retardation with alacrima and achalasia intellectual disability-alacrima-achalasia syndrome mental retardation, X-linked, syndromic 17 disease_ontology DOID:0060803 syndromic X-linked intellectual disability 17 DOID:0060803 A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/21744492 A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11. ICD10CM:Q87.8 MIM:309545 ORDO:85290 X-linked intellectual disability, Wilson type mental retardation, X-linked, syndromic 12 disease_ontology DOID:0060804 syndromic X-linked intellectual disability 12 DOID:0060804 A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/1357179 A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11. MIM:309610 ORDO:2958 Prieto-Badia-Mulas syndrome X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome disease_ontology DOID:0060805 Prieto syndrome DOID:0060805 A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/1673297 url:https://www.ncbi.nlm.nih.gov/pubmed/3121220 A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. MIM:300423 ORDO:93952 MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type disease_ontology DOID:0060806 syndromic X-linked intellectual disability Hedera type DOID:0060806 A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/11782983 url:https://www.ncbi.nlm.nih.gov/pubmed/15746149 MRXE MRXSH A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11. GARD:12669 ICD10CM:Q04.3 MIM:300749 ORDO:163937 MICPCH X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome mental retardation and microcephaly with pontine and cerebellar hypoplasia disease_ontology DOID:0060807 syndromic X-linked intellectual disability Najm type DOID:0060807 A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/19165920 url:https://www.ncbi.nlm.nih.gov/pubmed/21954287 MICPCH A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22. GARD:9156 MESH:C537449 MIM:300218 ORDO:85274 SNOMEDCT_US_2023_03_01:719160009 UMLS_CUI:C1846170 MRXS7 X-linked intellectual disability, Ahmad type mental retardation, X-linked syndromic 7 disease_ontology DOID:0060808 syndromic X-linked intellectual disability 7 DOID:0060808 A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10573017 MRXS7 A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11. ICD10CM:Q87.8 MIM:300534 ORDO:85279 MRXSCJ MRXSJ mental retardation, X-linked, syndromic, Claes-Jensen type syndromic X-linked intellectual disability due to JARID1C mutation syndromic X-linked mental retardation JARID1C-related disease_ontology DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type DOID:0060809 A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/10982473 url:https://www.ncbi.nlm.nih.gov/pubmed/15586325 MRXSCJ MRXSJ A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. ICD10CM:G25.5 MIM:300438 ORDO:85295 HSD10 deficiency, atypical type HSD10 disease, atypical type MRXS10 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome mental retardation, X-linked syndromic 10 disease_ontology DOID:0060810 syndromic X-linked intellectual disability type 10 DOID:0060810 A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. url:https://www.ncbi.nlm.nih.gov/pubmed/10521307 url:https://www.ncbi.nlm.nih.gov/pubmed/17236142 MRXS10 A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. DOID:0060829 ICD10CM:Q87.8 MIM:309590 ORDO:3056 ORDO:85328 Brooks-Wisniewski-Brown syndrome MRXST X-linked intellectual disability, Brooks type mental retardation and macrocephaly syndrome mental retardation, X-linked syndromic, Turner type disease_ontology DOID:0060811 syndromic X-linked intellectual disability Turner type DOID:0060811 A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. url:https://www.ncbi.nlm.nih.gov/pubmed/18252223 url:https://www.ncbi.nlm.nih.gov/pubmed/7943042 MRXST A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22. MESH:C537333 MIM:300263 ORDO:85287 UMLS_CUI:C1846055 MRXSSD Siderius X-linked mental retardation syndrome Siderius-Hamel syndrome mental retardation syndrome, X-linked, Siderius type disease_ontology DOID:0060812 syndromic X-linked intellectual disability Siderius type DOID:0060812 A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22. url:https://www.ncbi.nlm.nih.gov/pubmed/10398231 url:https://www.ncbi.nlm.nih.gov/pubmed/16199551 MRXSSD A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31. ICD10CM:Q87.8 MIM:300709 ORDO:85324 MRXS9 mental retardation, X-linked, syndromic 9 disease_ontology DOID:0060813 syndromic X-linked intellectual disability Shrimpton type DOID:0060813 A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/10331611 url:https://www.ncbi.nlm.nih.gov/pubmed/10797443 MRXS9 A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. GARD:5579 MIM:309585 ORDO:3459 MRXS6 WTS X-linked intellectual disability-gynecomastia-obesity syndrome mental retardation, X-linked, syndromic 6 mental retardation, X-linked, with gynecomastia and obesity disease_ontology DOID:0060814 Wilson-Turner syndrome DOID:0060814 A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. url:https://www.ncbi.nlm.nih.gov/pubmed/1746601 url:https://www.ncbi.nlm.nih.gov/pubmed/25644381 MRXS6 WTS A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. MIM:314580 ORDO:85283 UMLS_CUI:C1839735 MCS MRXS4 Miles-Carpenter syndrome WRWF X-linked intellectual disability, Miles-Carpenter type mental retardation, X-linked, syndromic 4 mental retardation, X-linked, with congenital contractures and low fingertip arches disease_ontology DOID:0060815 Wieacker-Wolff syndrome MIM:PS314580 DOID:0060815 A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. url:https://www.ncbi.nlm.nih.gov/pubmed/2018061 MCS MRXS4 WRWF A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. ICD10CM:Q87.8 MIM:300472 ORDO:52055 Graham-Cox syndrome MRXS28 corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia mental retardation, X-linked, syndromic 28 disease_ontology DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome DOID:0060816 A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/14556245 MRXS28 A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13. MIM:300967 ORDO:466791 MRXS34 MRXSML macrocephaly-intellectual disability-left ventricular non compaction syndrome mental retardation, X-linked, syndromic 34 syndromic X-linked mental retardation Mircsof-Langouet type disease_ontology DOID:0060817 syndromic X-linked intellectual disability 34 DOID:0060817 A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13. url:https://www.ncbi.nlm.nih.gov/pubmed/26571461 MRXS34 MRXSML A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2. MESH:C535556 MIM:300262 ORDO:85273 UMLS_CUI:C1846056 MRXSAB mental retardation, X-linked syndromic, Abidi type syndromic X-linked mental retardation Abidi type disease_ontology DOID:0060818 syndromic X-linked intellectual disability Abidi type DOID:0060818 A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10398233 MRXSAB A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23. MIM:300861 MRXSCS X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance mental retardation, X-linked, syndromic, Chudley-Schwartz type disease_ontology DOID:0060819 syndromic X-linked intellectual disability Chudley-Schwartz type DOID:0060819 A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23. url:https://www.ncbi.nlm.nih.gov/pubmed/10398239 MRXSCS A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24. ICD10CM:Q87.8 MIM:300860 ORDO:163956 X-linked intellectual disability-nail dystrophy-seizures syndrome mental retardation, X-linked syndromic, Nascimento-type disease_ontology DOID:0060820 syndromic X-linked intellectual disability Nascimento type DOID:0060820 A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24. url:https://www.ncbi.nlm.nih.gov/pubmed/16909393 url:https://www.ncbi.nlm.nih.gov/pubmed/20412111 A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24. MESH:C537724 MIM:300676 ORDO:323 ORDO:776 SNOMEDCT_US_2023_03_01:422437002 UMLS_CUI:C0796022 mental retardation, X-linked, syndromic 14 disease_ontology DOID:0060821 syndromic X-linked intellectual disability 14 DOID:0060821 A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24. url:https://www.ncbi.nlm.nih.gov/pubmed/17704778 url:https://www.ncbi.nlm.nih.gov/pubmed/22957832 A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq24. GARD:13244 ICD10CM:Q87.8 MIM:300354 ORDO:85293 Cabezas syndrome; syndromic X-linked mental retardation 15 MRSS MRXS15 MRXSC X-linked mental retardation with short stature X-linked mental retardation with short stature, hypogonadism, and abnormal gait mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 (Cabezas type) disease_ontology DOID:0060822 syndromic X-linked intellectual disability Cabezas type DOID:0060822 A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq24. url:https://www.ncbi.nlm.nih.gov/pubmed/10978355 url:https://www.ncbi.nlm.nih.gov/pubmed/17236139 MRSS MRXS15 MRXSC A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25. ICD10CM:F72 MIM:300699 ORDO:364028 MRX94 MRXS29 mental retardation, X-linked 94 syndromic X-linked intellectual disability due to GRIA3 anomalies syndromic X-linked mental retardation 29 syndromic X-linked mental retardation Wu type disease_ontology DOID:0060823 syndromic X-linked intellectual disability 94 DOID:0060823 A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25. url:https://www.ncbi.nlm.nih.gov/pubmed/17989220 url:https://www.ncbi.nlm.nih.gov/pubmed/19449417 url:https://www.ncbi.nlm.nih.gov/pubmed/24721225 MRX94 MRXS29 A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1. ICD10CM:Q87.8 MIM:300799 ORDO:163953 MRXSR X-linked syndromic intellectual developmental disorder Raymond type mental retardation, X-linked syndromic, Raymond type disease_ontology DOID:0060824 syndromic X-linked intellectual disability Raymond type DOID:0060824 A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17436253 url:https://www.ncbi.nlm.nih.gov/pubmed/19377476 MRXSR A syndromic X-linked intellectual disability characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types that has_material_basis_in mutation in hemizygous mutation in the SLC9A6 gene on chromosome Xq26. GARD:10572 MESH:C537450 MIM:300243 ORDO:85278 UMLS_CUI:C1846130 Christianson type of X-linked syndromic intellectual developmental disorder MRXSCH X-linked Angelman-like syndrome X-linked intellectual disability, South African type X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome mental retardation, X-linked syndromic, Christianson type mental retardation, microcephaly, epilepsy, and ataxia syndrome disease_ontology DOID:0060825 Christianson syndrome MESH:C567484 MESH:C537450 DOID:0060825 A syndromic X-linked intellectual disability characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types that has_material_basis_in mutation in hemizygous mutation in the SLC9A6 gene on chromosome Xq26. url:https://www.ncbi.nlm.nih.gov/pubmed/18342287 url:https://www.ncbi.nlm.nih.gov/pubmed/20949524 url:https://www.ncbi.nlm.nih.gov/pubmed/25044251 MRXSCH A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26. ICD10CM:Q87.8 MIM:300238 ORDO:85286 MRXS11 SMRXS Shashi X-linked mental retardation syndrome X-linked mental retardation Shashi type mental retardation, X-linked, syndromic 11, Shashi type syndromic X-linked intellectual disability type 11 disease_ontology DOID:0060826 syndromic X-linked intellectual disability Shashi type DOID:0060826 A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26. url:https://www.ncbi.nlm.nih.gov/pubmed/10677307 url:https://www.ncbi.nlm.nih.gov/pubmed/25256757 MRXS11 SMRXS A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. ICD10CM:F71.1 MIM:300055 ORDO:3077 Lindsay-Burn syndrome MRXS13 PPM-X X-linked mental retardation 79 X-linked mental retardation with spasticity mental retardation with psychosis, pyramidal signs, and macroorchidism mental retardation, X-linked, syndromic 13 disease_ontology DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome DOID:0060827 A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/10986043 url:https://www.ncbi.nlm.nih.gov/pubmed/8651288 MRXS13 PPM-X A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. MIM:300886 ORDO:324410 MRXS32 mental retardation, X-linked, syndromic 32 disease_ontology DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome DOID:0060828 A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/22814392 MRXS32 A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has_material_basis_in variation on the X chromosome. disease_ontology DOID:0060829 obsolete Brooks-Wisniewski-Brown syndrome true DOID:0060829 A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has_material_basis_in variation on the X chromosome. url:https://www.ncbi.nlm.nih.gov/pubmed/7943044 A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome. ICD10CM:Q87.8 MIM:300519 ORDO:85321 Martin-Probst syndrome mental retardation, X-linked, syndromic, Martin-Probst type disease_ontology DOID:0060830 deafness-intellectual disability, Martin-Probst type syndrome DOID:0060830 A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome. url:https://www.ncbi.nlm.nih.gov/pubmed/11073537 An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. GARD:10913 ICD10CM:E70.3 MIM:PS214450 ORDO:381 Chediak-Higashi-like syndrome Griscelli-Prunieras syndrome partial albinism-immunodeficiency syndrome disease_ontology DOID:0060831 Griscelli syndrome DOID:0060831 An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. url:https://www.ncbi.nlm.nih.gov/pubmed/12452176 url:https://www.ncbi.nlm.nih.gov/pubmed/707528 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2. GARD:2566 MESH:C537301 MIM:214450 ORDO:79476 SNOMEDCT_US_2023_03_01:1254946006 UMLS_CUI:C1859194 GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1 hypopigmentation-neurologic impairment syndrome disease_ontology DOID:0060832 Griscelli syndrome type 1 DOID:0060832 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/12452176 url:https://www.ncbi.nlm.nih.gov/pubmed/9207796 GS1 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. GARD:4483 MESH:C537302 MIM:607624 NCI:C111814 ORDO:79477 UMLS_CUI:C1868679 GS2 Griscelli syndrome with hemophagocytic syndrome Griscelli-Prunieras syndrome type 2 PAID syndrome hypopigmentation-immunodeficiency with or without neurologic impairment syndrome partial albinism and immunodeficiency syndrome disease_ontology DOID:0060833 Griscelli syndrome type 2 DOID:0060833 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/12452176 url:https://www.ncbi.nlm.nih.gov/pubmed/707528 GS2 A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes. GARD:9715 MESH:C537303 MIM:609227 ORDO:79478 SNOMEDCT_US_2023_03_01:1254947002 UMLS_CUI:C1836573 GS3 Griscelli-Prunieras syndrome type 3 disease_ontology DOID:0060834 Griscelli syndrome type 3 DOID:0060834 A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes. url:https://www.ncbi.nlm.nih.gov/pubmed/12148598 url:https://www.ncbi.nlm.nih.gov/pubmed/12897212 GS3 An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37. ICD10CM:Q11.0 MIM:613517 ORDO:2542 MCOP6 posterior nonsyndromic microphthalmia disease_ontology DOID:0060835 isolated microphthalmia 6 DOID:0060835 An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/15823920 url:https://www.ncbi.nlm.nih.gov/pubmed/21397065 MCOP6 An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. ICD10CM:Q11.0 MIM:613094 ORDO:2542 MCOP4 disease_ontology DOID:0060836 isolated microphthalmia 4 DOID:0060836 An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. url:https://www.ncbi.nlm.nih.gov/pubmed/19129173 MCOP4 An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. ICD10CM:Q15.8 MIM:611040 ORDO:251279 MCOP5 microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen disease_ontology DOID:0060837 isolated microphthalmia 5 DOID:0060837 An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/17167404 url:https://www.ncbi.nlm.nih.gov/pubmed/18554571 url:https://www.ncbi.nlm.nih.gov/pubmed/19753314 MCOP5 An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13. ICD10CM:Q11.0 MIM:613704 ORDO:2542 MCOP7 disease_ontology DOID:0060838 isolated microphthalmia 7 DOID:0060838 An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/19864492 MCOP7 An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. ICD10CM:Q11.0 MIM:610093 ORDO:2542 MCOP2 disease_ontology DOID:0060839 isolated microphthalmia 2 DOID:0060839 An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. url:https://www.ncbi.nlm.nih.gov/pubmed/15257456 url:https://www.ncbi.nlm.nih.gov/pubmed/3378363 MCOP2 An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32. ICD10CM:Q11.0 MIM:251600 ORDO:2542 MCOP1 disease_ontology DOID:0060840 isolated microphthalmia 1 DOID:0060840 An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/9545413 MCOP1 An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26. ICD10CM:Q11.0 MIM:615113 ORDO:2542 MCOP8 disease_ontology DOID:0060841 isolated microphthalmia 8 DOID:0060841 An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26. url:https://www.ncbi.nlm.nih.gov/pubmed/23312594 url:https://www.ncbi.nlm.nih.gov/pubmed/23591992 MCOP8 An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. ICD10CM:Q11.0 MIM:611038 ORDO:2542 MCOP3 disease_ontology DOID:0060842 isolated microphthalmia 3 DOID:0060842 An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. url:https://www.ncbi.nlm.nih.gov/pubmed/14662654 url:https://www.ncbi.nlm.nih.gov/pubmed/18783408 MCOP3 A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. MESH:C536965 MIM:162500 ORDO:640 SNOMEDCT_US_2023_03_01:230558006 UMLS_CUI:C0393814 HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy disease_ontology DOID:0060843 hereditary neuropathy with liability to pressure palsies DOID:0060843 A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. url:https://www.ncbi.nlm.nih.gov/pubmed/12682341 url:https://www.ncbi.nlm.nih.gov/pubmed/2540008 url:https://www.ncbi.nlm.nih.gov/pubmed/8422677 HNPP A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. GARD:7224 MESH:C537849 MIM:310600 NCI:C118634 ORDO:649 SNOMEDCT_US_2023_03_01:15228007 UMLS_CUI:C0266526 Episkopi blindness Norrie-Warburg disease atrophia bulborum hereditaria disease_ontology DOID:0060844 Norrie disease DOID:0060844 A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/1303235 url:https://www.ncbi.nlm.nih.gov/pubmed/13998843 url:https://www.ncbi.nlm.nih.gov/pubmed/7627181 An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain. GARD:3224 MESH:C537119 MIM:127300 NCI:C126560 ORDO:240 SNOMEDCT_US_2023_03_01:17818006 UMLS_CUI:C0265309 disease_ontology DOID:0060847 Leri-Weill dyschondrosteosis DOID:0060847 An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain. url:https://rarediseases.org/rare-diseases/leri-weilldyschondrosteosis/ url:https://www.ncbi.nlm.nih.gov/pubmed/10713888 url:https://www.ncbi.nlm.nih.gov/pubmed/21712857 url:https://www.ncbi.nlm.nih.gov/pubmed/9590292 A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. GARD:10806 MIM:300088 ORDO:101039 DEE9 EFMR EIEE9 Juberg Hellman syndrome early infantile epileptic encephalopathy 9 early infantile female-limited epilecptic encephalopathy female restricted epilepsy with mental retardation disease_ontology DOID:0060848 developmental and epileptic encephalopathy 9 DOID:0060848 A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. url:https://pubmed.ncbi.nlm.nih.gov/20830798/ url:https://www.ncbi.nlm.nih.gov/pubmed/18469813 url:https://www.ncbi.nlm.nih.gov/pubmed/19752159 DEE9 EFMR EIEE9 A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. GARD:4160 MESH:C536063 MIM:259770 NCI:C130998 ORDO:2788 SNOMEDCT_US_2023_03_01:254112001 UMLS_CUI:C0432252 OPPG ocular form of osteogenesis imperfecta disease_ontology DOID:0060849 osteoporosis-pseudoglioma syndrome DOID:0060849 A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/11719191 url:https://www.ncbi.nlm.nih.gov/pubmed/20034086 url:https://www.ncbi.nlm.nih.gov/pubmed/3955877 OPPG A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis. GARD:705 ICD10CM:Q45.1 MESH:C536376 MIM:167750 NCI:C98813 ORDO:675 SNOMEDCT_US_2023_03_01:40315008 UMLS_CUI:C0149955 disease_ontology DOID:0060850 annular pancreas DOID:0060850 A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis. url:https://www.ncbi.nlm.nih.gov/pubmed/1860255 url:https://www.ncbi.nlm.nih.gov/pubmed/677171 A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. GARD:7355 ICD10CM:L10.0 MESH:D010392 MIM:169610 NCI:C34910 ORDO:704 SNOMEDCT_US_2023_03_01:49420001 UMLS_CUI:C0030809 familial pemphigus vulgaris disease_ontology DOID:0060851 pemphigus vulgaris DOID:0060851 A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. url:https://www.ncbi.nlm.nih.gov/pubmed/2217197 url:https://www.ncbi.nlm.nih.gov/pubmed/4577497 A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21. GARD:9420 MESH:C537185 MIM:609049 NCI:C128145 ORDO:2670 SNOMEDCT_US_2023_03_01:723449004 UMLS_CUI:C1836876 microcoria-congenital nephrosis syndrome disease_ontology DOID:0060852 Pierson syndrome DOID:0060852 A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/15367484 url:https://www.ncbi.nlm.nih.gov/pubmed/15372515 A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2. GARD:10145 MESH:C538355 MIM:610883 NCI:C124846 ORDO:1713 SNOMEDCT_US_2023_03_01:734016004 UMLS_CUI:C2931246 17p11.2 microduplication syndrome chromosome 17p11.2 duplication syndrome trisomy 17p11.2 disease_ontology DOID:0060853 Potocki-Lupski syndrome DOID:0060853 A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10615134 url:https://www.ncbi.nlm.nih.gov/pubmed/20425816 A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G. GARD:4552 MESH:D011546 MIM:264350 NCI:C123251 ORDO:171876 ORDO:756 SNOMEDCT_US_2023_03_01:43941006 UMLS_CUI:C0268436 PHA1B autosomal recessive PHA 1 disease_ontology DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 DOID:0060854 A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G. url:https://www.ncbi.nlm.nih.gov/pubmed/10202170 url:https://www.ncbi.nlm.nih.gov/pubmed/10404817 url:https://www.ncbi.nlm.nih.gov/pubmed/8589714 PHA1B A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. GARD:9145 MESH:D011546 MIM:177735 ORDO:756 UMLS_CUI:C1449843 PHA1A autosomal dominant PHA 1 disease_ontology DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 DOID:0060855 A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. url:https://www.ncbi.nlm.nih.gov/pubmed/9662404 PHA1A A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. ICD10CM:Q20.6 MIM:208530 ORDO:97548 Ivemark syndrome asplenia with cardiovascular anomalies disease_ontology DOID:0060856 right atrial isomerism DOID:0060856 A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. url:https://www.ncbi.nlm.nih.gov/pubmed/14648004 url:https://www.ncbi.nlm.nih.gov/pubmed/20413652 A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14. GARD:7627 MESH:D025962 MIM:182230 NCI:C85063 ORDO:3157 SNOMEDCT_US_2023_03_01:204073006 UMLS_CUI:C0338503 De Morsier syndrome SOD septo-optic dysplasia disease_ontology DOID:0060857 septooptic dysplasia DOID:0060857 A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14. url:https://www.ncbi.nlm.nih.gov/pubmed/8696006 url:https://www.ncbi.nlm.nih.gov/pubmed/9620767 SOD A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. ICD10CM:E72.0 MESH:C564710 MIM:606407 ORDO:163690 cystinuria with mitochondrial disease disease_ontology DOID:0060858 hypotonia-cystinuria syndrome DOID:0060858 A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163690 url:https://www.ncbi.nlm.nih.gov/pubmed/11524703 url:https://www.ncbi.nlm.nih.gov/pubmed/16385448 url:https://www.ncbi.nlm.nih.gov/pubmed/18234729 A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has symptoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment. ICD10CM:A02.0 ICD9CM:003.0 Salmonella infection disease_ontology DOID:0060859 salmonellosis DOID:0060859 A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has symptoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment. url:https://www.cdc.gov/salmonella/general/index.html url:https://www.foodsafety.gov/poisoning/causes/bacteriaviruses/salmonella A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. ICD10CM:Q87.2 MIM:206920 ORDO:1106 MLA OAS Waardenburg anophthalmia syndrome anophthalmia-syndactyly syndrome ophthalmoacromelic syndrome disease_ontology DOID:0060861 microphthalmia with limb anomalies DOID:0060861 A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21194678 url:https://www.ncbi.nlm.nih.gov/pubmed/6846395 MLA OAS A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. GARD:92 ICD10CM:Q82.8 MESH:C565454 MIM:248300 ORDO:86923 ORDO:87503 UMLS_CUI:C1855644 UMLS_CUI:C4273986 MDM Meleda disease PPK, Gamborg-Nielsen type PPKGN PPKNR keratosis palmoplantaris transgrediens of Siemens palmoplantar keratoderma, Gamborg-Nielsen type palmoplantar keratoderma, Norrbotten type transgrediens palmoplantar keratoderma of Siemens disease_ontology DOID:0060862 mal de Meleda GARD:92 MESH:C565454 ORDO:86923 UMLS_CUI:C1855644 UMLS_CUI:C4273986 DOID:0060862 A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. url:https://pubmed.ncbi.nlm.nih.gov/26139149/ url:https://www.ncbi.nlm.nih.gov/pubmed/11285253 url:https://www.ncbi.nlm.nih.gov/pubmed/9887370 MDM PPKGN PPKNR A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped. ICD10CM:H35.5 MIM:PS169150 ORDO:99001 patterned dystrophy of retinal pigment epithelium disease_ontology DOID:0060863 patterned macular dystrophy DOID:0060863 A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped. url:https://www.ncbi.nlm.nih.gov/pubmed/22466463 A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31. MIM:608970 MDPT2 butterfly-shaped pigmentary maculary dystrophy 2 disease_ontology DOID:0060864 patterned macular dystrophy 2 DOID:0060864 A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31. url:https://www.ncbi.nlm.nih.gov/pubmed/12724643 url:https://www.ncbi.nlm.nih.gov/pubmed/26691986 MDPT2 A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21. MIM:617111 MDPT3 Martinique crinkled retinal pigment epitheliopathy disease_ontology DOID:0060865 patterned macular dystrophy 3 DOID:0060865 A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/26744326 MDPT3 A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21. MIM:169150 MDPT1 butterfly-shaped pigmentary maculary dystrophy 1 disease_ontology DOID:0060866 patterned macular dystrophy 1 DOID:0060866 A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/8251014 MDPT1 A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. MESH:C565342 MIM:605309 ORDO:210548 macrocephaly-intellectual disability-autism syndrome disease_ontology DOID:0060867 macrocephaly-autism syndrome DOID:0060867 A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. url:https://www.ncbi.nlm.nih.gov/pubmed/15805158 url:https://www.ncbi.nlm.nih.gov/pubmed/1719811 A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. GARD:231 ICD10CM:E75.2 MIM:PS603896 ORDO:135 ORDO:157713 ORDO:157716 ORDO:157719 CACH CACH/VWM childhood ataxia with central nervous system hypomyelination vanishing white matter leukodystrophy disease_ontology ovarioleukodystrophy DOID:0060868 leukoencephalopathy with vanishing white matter ORDO:157713 ORDO:157716 ORDO:157719 DOID:0060868 ORDO:99853 A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. url:https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-vanishing-white-matter/ url:https://pubmed.ncbi.nlm.nih.gov/11835386/ url:https://pubmed.ncbi.nlm.nih.gov/15136673/ url:https://www.ncbi.nlm.nih.gov/pubmed/11704758 CACH CACH/VWM A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23. GARD:4357 MESH:C565309 MIM:605670 ORDO:67042 LORD autosomal dominant late-onset retinal degeneration disease_ontology DOID:0060869 late-onset retinal degeneration DOID:0060869 A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/12944416 LORD A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. GARD:12556 ICD10CM:E23.0 ICD9CM:253.3 MESH:D004393 NCI:C34555 ORDO:631 SNOMEDCT_US_2023_03_01:270485009 UMLS_CUI:C0013338 IGHD congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency familial isolated growth hormone deficiency non-acquired isolated growth hormone deficiency disease_ontology DOID:0060870 isolated growth hormone deficiency DOID:0060870 A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. url:https://www.ncbi.nlm.nih.gov/pubmed/8288694 IGHD A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q. ICD10CM:Q80.8 MIM:148210 ORDO:477 autosomal dominant KID syndrome disease_ontology DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome DOID:0060871 A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q. url:https://www.ncbi.nlm.nih.gov/pubmed/11912510 url:https://www.ncbi.nlm.nih.gov/pubmed/11918723 url:https://www.ncbi.nlm.nih.gov/pubmed/3579358 An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. ICD10CM:E23.0 MESH:C562704 MIM:173100 ORDO:231679 IGHD II autosomal dominant isolated growth hormone deficiency autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency congenital IGHD type II congenital isolated GH deficiency type II congenital isolated growth hormone deficiency type II disease_ontology DOID:0060872 isolated growth hormone deficiency type II DOID:0060872 An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15671105 url:https://www.ncbi.nlm.nih.gov/pubmed/8288694 IGHD II An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. ICD10CM:E23.0 MIM:262400 ORDO:231662 IGHD IA Illig-type growth hormone deficiency autosomal recessive isolated growth hormone deficiency pituitary dwarfism I primordial dwarfism sexual ateleiotic dwarfism disease_ontology DOID:0060873 isolated growth hormone deficiency type IA DOID:0060873 An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/16060904 url:https://www.ncbi.nlm.nih.gov/pubmed/8288694 IGHD IA An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. ICD10CM:E23.0 MIM:612781 MIM:618157 ORDO:231671 IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh disease_ontology DOID:0060874 isolated growth hormone deficiency type IB MIM:618157 DOID:0060874 An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. url:https://www.ncbi.nlm.nih.gov/pubmed/10678654 url:https://www.ncbi.nlm.nih.gov/pubmed/8288694 url:https://www.ncbi.nlm.nih.gov/pubmed/8528260 IGHD IB An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1. GARD:3921 ICD10CM:E23.0 MIM:307200 ORDO:231692 Fleisher syndrome IGHD III X-linked IGHD X-linked agammaglobulinemia and isolated growth hormone deficiency X-linked hypogammaglobulinemia and isolated growth hormone deficiency X-linked isolated growth hormone deficiency congenital IGHD type III congenital isolated GH deficiency type III congenital isolated growth hormone deficiency type III growth hormone deficiency with hypogammaglobulinemia disease_ontology DOID:0060875 isolated growth hormone deficiency type III DOID:0060875 An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/8013627 url:https://www.ncbi.nlm.nih.gov/pubmed/8288694 IGHD III An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. GARD:2966 MESH:D053560 MIM:146800 NCI:C84777 ORDO:455 SNOMEDCT_US_2023_03_01:254169002 UMLS_CUI:C0432306 bullous type ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis disease_ontology DOID:0060877 bullous congenital ichthyosiform erythroderma DOID:0060877 An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/4247927 url:https://www.ncbi.nlm.nih.gov/pubmed/7524919 A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. MESH:C537907 MIM:146255 NCI:C130983 ORDO:2237 SNOMEDCT_US_2023_03_01:724282009 UMLS_CUI:C1840333 Barakat syndrome HDR syndrome hypoparathyroidism, sensorineural deafness, and renal disease disease_ontology DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome DOID:0060878 A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. url:https://www.ncbi.nlm.nih.gov/pubmed/10935639 url:https://www.ncbi.nlm.nih.gov/pubmed/874665 A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life. ICD10CM:E83.4 MIM:PS602014 ORDO:34526 HOMG primary familial hypomagnesemia disease_ontology DOID:0060879 primary hypomagnesemia DOID:0060879 A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life. url:https://www.ncbi.nlm.nih.gov/pubmed/18818955 HOMG A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. ICD10CM:E83.4 MIM:248250 ORDO:31043 FHHNC without severe ocular involvement HOMG3 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement isolated renal hypomagnesemia primary hypomagnesemia due to defect in renal tubular transport of magnesium renal hypomagnesemia type 3 disease_ontology DOID:0060880 renal hypomagnesemia 3 DOID:0060880 A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. url:https://www.ncbi.nlm.nih.gov/pubmed/10390358 url:https://www.ncbi.nlm.nih.gov/pubmed/16501001 HOMG3 A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. MESH:C536148 MIM:248190 ORDO:2196 UMLS_CUI:C2931121 FHHNC with severe ocular involvement Meier-Blumberg-Imahorn syndrome bilateral macular coloboma with hypercalciuria familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement hypercalciuria-bilateral macular coloboma syndrome disease_ontology DOID:0060881 renal hypomagnesemia 5 with ocular involvement DOID:0060881 A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17033971 A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in homozygous mutation in the EGF gene on chromosome 4q25. ICD10CM:E83.4 MIM:611718 ORDO:34527 HOMG4 disease_ontology DOID:0060882 renal hypomagnesemia 4 DOID:0060882 A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in homozygous mutation in the EGF gene on chromosome 4q25. url:https://www.ncbi.nlm.nih.gov/pubmed/12584272 url:https://www.ncbi.nlm.nih.gov/pubmed/17671655 HOMG4 A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21. ICD10CM:E83.4 MIM:602014 ORDO:30924 HOMG1 hypomagnesemia caused by selective magnesium malabsorption hypomagnesemia intestinal type 1 hypomagnesemic tetany intestinal hypomagnesemia with secondary hypocalcemia primary hypomagnesemia with secondary hypocalcemia disease_ontology DOID:0060883 intestinal hypomagnesemia 1 DOID:0060883 A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21. url:https://www.ncbi.nlm.nih.gov/pubmed/12032568 url:https://www.ncbi.nlm.nih.gov/pubmed/12032570 url:https://www.ncbi.nlm.nih.gov/pubmed/18818955 HOMG1 A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24. GARD:12155 ICD10CM:E83.4 MIM:613882 ORDO:34527 HOMG6 disease_ontology DOID:0060884 renal hypomagnesemia 6 DOID:0060884 A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21397062 HOMG6 A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23. GARD:3350 ICD10CM:E83.4 MIM:154020 ORDO:34528 HOMG2 autosomal dominant primary hypomagnesemia with hypocalciuria disease_ontology DOID:0060885 renal hypomagnesemia 2 DOID:0060885 A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/11062458 url:https://www.ncbi.nlm.nih.gov/pubmed/3298795 HOMG2 An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. MESH:C536053 MIM:300373 ORDO:2780 SNOMEDCT_US_2023_03_01:254129003 UMLS_CUI:C0432268 Robinow-Unger syndrome hyperostosis generalisata with striations disease_ontology DOID:0060886 osteopathia striata with cranial sclerosis DOID:0060886 An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. url:https://www.ncbi.nlm.nih.gov/pubmed/19079258 A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia. GARD:9699 MIM:602475 OPLL disease_ontology DOID:0060887 ossification of the posterior longitudinal ligament of spine DOID:0060887 A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia. url:https://www.ncbi.nlm.nih.gov/pubmed/27374772 OPLL A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome. GARD:12765 ICD10CM:D47.7 MIM:159595 ORDO:420611 MST TAM transient abnormal myelopoiesis transient leukemia transient leukemia of Down syndrome transient myeloproliferative disease disease_ontology DOID:0060888 transient myeloproliferative syndrome DOID:0060888 A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/792759 url:https://www.ncbi.nlm.nih.gov/pubmed/6229618 MST TAM A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. GARD:7479 ICD10CM:Q79.4 MESH:D011535 MIM:100100 ORDO:2970 Eagle-Barrett syndrome Obrinsky syndrome abdominal muscle deficiency syndrome triad syndrome disease_ontology DOID:0060889 prune belly syndrome DOID:0060889 A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. url:https://en.wikipedia.org/wiki/Prune_belly_syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK544248/ url:https://www.ncbi.nlm.nih.gov/pubmed/15912376 url:https://www.ncbi.nlm.nih.gov/pubmed/22077972 A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone. ICD10CM:E24.3 ORDO:99889 Cushing syndrome due to ectopic ACTH secretion ectopic ACTH secreting tumor disease_ontology DOID:0060890 ectopic Cushing syndrome DOID:0060890 A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone. url:https://www.ncbi.nlm.nih.gov/pubmed/27387249 An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. ICD10CM:G20 MIM:615528 ORDO:391411 juvenile onset Parkinson disease 19A juvenile onset Parkinson's disease 19A disease_ontology DOID:0060891 Parkinson's disease 19A DOID:0060891 An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. url:https://www.ncbi.nlm.nih.gov/pubmed/22563501 url:https://www.ncbi.nlm.nih.gov/pubmed/23211418 url:https://www.ncbi.nlm.nih.gov/pubmed/26703368 A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age. MIM:168600 ORDO:411602 late onset Parkinson disease disease_ontology DOID:0060892 late onset Parkinson's disease DOID:0060892 A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age. url:https://www.ncbi.nlm.nih.gov/pubmed/25904081 An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age. juvenile-onset Parkinson disease disease_ontology DOID:0060893 juvenile-onset Parkinson's disease DOID:0060893 An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age. url:https://www.ncbi.nlm.nih.gov/pubmed/25904081 A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age. ORDO:2828 Young-onset Parkinson disease early-onset Parkinson disease disease_ontology DOID:0060894 early-onset Parkinson's disease DOID:0060894 A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age. url:https://www.ncbi.nlm.nih.gov/pubmed/25904081 A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22. ICD10CM:G20 MIM:605543 autosomal dominant Lewy body Parkinson disease 4 autosomal dominant Parkinson disease 4 autosomal dominant Parkinson's disease 4 disease_ontology DOID:0060895 Parkinson's disease 4 DOID:0060895 A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22. url:https://www.ncbi.nlm.nih.gov/pubmed/14755720 url:https://www.ncbi.nlm.nih.gov/pubmed/17251522 An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. ICD10CM:G20 MIM:616840 autosomal recessive early-onset Parkinson disease 23 autosomal recessive early-onset Parkinson's disease 23 disease_ontology DOID:0060896 Parkinson's disease 23 DOID:0060896 An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. url:https://www.ncbi.nlm.nih.gov/pubmed/26942284 A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. MIM:614203 Parkinson disease 17 autosomal dominant Parkinson disease 17 disease_ontology DOID:0060897 Parkinson's disease 17 DOID:0060897 A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. url:https://www.ncbi.nlm.nih.gov/pubmed/21763483 An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. MIM:615530 early-onset Parkinson disease 20 early-onset Parkinson's disease 20 disease_ontology DOID:0060898 Parkinson's disease 20 DOID:0060898 An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. url:https://www.ncbi.nlm.nih.gov/pubmed/23804563 url:https://www.ncbi.nlm.nih.gov/pubmed/23804577 A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. MESH:C567844 MIM:612953 Dystonia-Parkinsonism Adult-Onset autosomal recessive Parkinson disease 14 autosomal recessive Parkinson's disease 14 disease_ontology DOID:0060900 Parkinson's disease 14 DOID:0060900 A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. url:https://www.ncbi.nlm.nih.gov/pubmed/18570303 A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. DOID:0050747 GARD:7872 ICD10CM:C88.0 ICD9CM:273.3 ICDO:9671/3 MESH:D008258 MIM:153600 MIM:610430 NCI:C115212 NCI:C80307 ORDO:33226 SNOMEDCT_US_2023_03_01:35562000 UMLS_CUI:C0024419 UMLS_CUI:C2936755 Waldenstroem's macroglobulinemia Waldenstrom Macroglobulinemia lymphoplasmacytic lymphoma with IgM gammopathy disease_ontology DOID:0060901 Lymphoplasmacytic lymphoma, also known as Waldenstrom macroglobulinemia. lymphoplasmacytic lymphoma MESH:D008258 DOID:0060901 A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. url:https://www.ncbi.nlm.nih.gov/pubmed/10632755 A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. MESH:C537848 MIM:257320 ORDO:89844 SNOMEDCT_US_2023_03_01:717977003 UMLS_CUI:C0796089 lissencephaly 2 lissencephaly syndrome, Norman-Roberts type disease_ontology DOID:0060902 Norman-Roberts syndrome DOID:0060902 A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10973257 url:https://www.ncbi.nlm.nih.gov/pubmed/15083694 A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system. MESH:D013927 disease_ontology DOID:0060903 thrombosis DOID:0060903 A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system. url:https://en.wikipedia.org/wiki/Thrombosis A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. Fabaceae allergy disease_ontology DOID:0060904 legume allergy DOID:0060904 A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. url:https://en.wikipedia.org/wiki/Legume An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3. GARD:11003 ICD10CM:N11.8 MIM:614817 ORDO:401996 KIN KMIN disease_ontology DOID:0060911 karyomegalic interstitial nephritis DOID:0060911 An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/16678356 url:https://www.ncbi.nlm.nih.gov/pubmed/22772369 KIN KMIN A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation. MIM:617439 CRS7 disease_ontology DOID:0060912 craniosynostosis 7 DOID:0060912 A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation. url:https://pubmed.ncbi.nlm.nih.gov/23438589/ CRS7 An autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications. MIM:PS256040 ORDO:324977 disease_ontology DOID:0060913 proteosome-associated autoinflammatory syndrome DOID:0060913 An autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications. url:https://pubmed.ncbi.nlm.nih.gov/25521013/ A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12. MIM:618048 PRAAS2 disease_ontology DOID:0060914 proteosome-associated autoinflammatory syndrome 2 DOID:0060914 A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12. url:https://pubmed.ncbi.nlm.nih.gov/29805043/ PRAAS2 A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11. MIM:619183 PRAAS4 disease_ontology DOID:0060915 proteosome-associated autoinflammatory syndrome 4 DOID:0060915 A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11. url:https://pubmed.ncbi.nlm.nih.gov/30664889/ PRAAS4 A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy and that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21. MIM:617591 PRAAS3 disease_ontology DOID:0060916 proteasome-associated autoinflammatory syndrome 3 DOID:0060916 A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy and that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21. url:https://pubmed.ncbi.nlm.nih.gov/26524591/ PRAAS3 A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. MIM:619477 FSHD3 facioscapulohumeral muscular dystrophy type 3 disease_ontology DOID:0060917 facioscapulohumeral muscular dystrophy 3 DOID:0060917 A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. url:https://pubmed.ncbi.nlm.nih.gov/32467133/ FSHD3 A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. MIM:619478 FSHD4 facioscapulohumeral muscular dystrophy type 4 disease_ontology DOID:0060918 facioscapulohumeral muscular dystrophy 4 DOID:0060918 A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. url:https://pubmed.ncbi.nlm.nih.gov/27153398/ FSHD4 A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22. MIM:619175 PRAAS5 disease_ontology DOID:0060919 proteosome-associated autoinflammatory syndrome 5 DOID:0060919 A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22. url:https://pubmed.ncbi.nlm.nih.gov/31783057/ PRAAS5 An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1. MIM:166800 OTSC1 disease_ontology DOID:0060920 otosclerosis 1 DOID:0060920 An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1. url:https://pubmed.ncbi.nlm.nih.gov/9425236/ OTSC1 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q. MIM:605727 OTSC2 disease_ontology DOID:0060921 otosclerosis 2 DOID:0060921 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q. url:https://pubmed.ncbi.nlm.nih.gov/11170898/ OTSC2 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p. MIM:608244 OTSC3 disease_ontology DOID:0060922 otosclerosis 3 DOID:0060922 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p. url:https://pubmed.ncbi.nlm.nih.gov/17568407/ OTSC3 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q. MIM:611571 OTSC4 disease_ontology DOID:0060923 otosclerosis 4 DOID:0060923 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q. url:https://pubmed.ncbi.nlm.nih.gov/16618911/ OTSC4 An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24. MIM:608787 OTSC5 disease_ontology DOID:0060924 otosclerosis 5 DOID:0060924 An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24. url:https://pubmed.ncbi.nlm.nih.gov/15173231/ OTSC5 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13. MIM:611572 OTSC7 disease_ontology DOID:0060925 otosclerosis 7 DOID:0060925 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13. url:https://pubmed.ncbi.nlm.nih.gov/17213839/ OTSC7 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11. MIM:612096 OTSC8 disease_ontology DOID:0060926 otosclerosis 8 DOID:0060926 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11. url:https://pubmed.ncbi.nlm.nih.gov/17568407/ OTSC8 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44. MIM:615589 OTSC10 disease_ontology DOID:0060927 otosclerosis 10 DOID:0060927 An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44. url:https://pubmed.ncbi.nlm.nih.gov/21470211/ OTSC10 An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24. MIM:620576 OTSC11 disease_ontology DOID:0060928 otosclerosis 11 DOID:0060928 An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24. url:https://pubmed.ncbi.nlm.nih.gov/34633540/ OTSC11 A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the SLITRK2 gene on chromosome Xq27. MIM:301107 XLID111 disease_ontology DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 DOID:0060929 A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the SLITRK2 gene on chromosome Xq27. url:https://pubmed.ncbi.nlm.nih.gov/35840571/ XLID111 A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum. MESH:D000082602 MIM:PS142700 disease_ontology DOID:0060930 developmental dysplasia of the hip DOID:0060930 A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum. url:https://pubmed.ncbi.nlm.nih.gov/11246461/ A developmental dysplasia of the hip that is characterized by a shallow hip socket and that has_material_basis_in variation in the chromosomal region 13q22. MIM:142700 DDH1 disease_ontology DOID:0060931 developmental dysplasia of the hip 1 DOID:0060931 A developmental dysplasia of the hip that is characterized by a shallow hip socket and that has_material_basis_in variation in the chromosomal region 13q22. url:https://pubmed.ncbi.nlm.nih.gov/11246461/ url:https://pubmed.ncbi.nlm.nih.gov/16773577/ DDH1 A developmental dysplasia of the hip that is characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis and that has_material_basis_in variation in the chromosomal region 3p22.2. MIM:615612 DDH2 disease_ontology DOID:0060932 developmental dysplasia of the hip 2 DOID:0060932 A developmental dysplasia of the hip that is characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis and that has_material_basis_in variation in the chromosomal region 3p22.2. url:https://pubmed.ncbi.nlm.nih.gov/23716478/ DDH2 An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. MIM:620535 DEVDFB disease_ontology DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies DOID:0060933 An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/34112922/ url:https://pubmed.ncbi.nlm.nih.gov/37134193/ url:https://pubmed.ncbi.nlm.nih.gov/37962958/ DEVDFB An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21. MIM:617862 NEDMEBA disease_ontology DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy DOID:0060934 An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21. url:https://pubmed.ncbi.nlm.nih.gov/28626029/ url:https://pubmed.ncbi.nlm.nih.gov/31687267/ url:https://pubmed.ncbi.nlm.nih.gov/35150401/ url:https://pubmed.ncbi.nlm.nih.gov/37713627/ NEDMEBA An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24. MIM:616900 ORDO:488632 UMLS_CUI:C5567480 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 IHPRF3 TBCK-related intellectual disability syndrome disease_ontology DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 DOID:0060935 An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24. url:https://pubmed.ncbi.nlm.nih.gov/27040691/ url:https://pubmed.ncbi.nlm.nih.gov/27040692/ url:https://pubmed.ncbi.nlm.nih.gov/30103036/ IHPRF3 A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13. ICD10CM:G24.8 MIM:617284 ORDO:589618 UMLS_CUI:C4310633 DYSTONIA 28, CHILDHOOD-ONSET DYT28 disease_ontology DOID:0060936 dystonia 28, childhood-onset DOID:0060936 A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/27839873/ url:https://pubmed.ncbi.nlm.nih.gov/27992417/ DYT28 A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13. MIM:619291 DYT30 disease_ontology DOID:0060937 dystonia 30 DOID:0060937 A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13. url:https://pubmed.ncbi.nlm.nih.gov/27174565/ url:https://pubmed.ncbi.nlm.nih.gov/32808683/ DYT30 A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22. MIM:619565 DYT31 ZECH-BOESCH SYNDROME disease_ontology DOID:0060938 dystonia 31 DOID:0060938 A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22. url:https://pubmed.ncbi.nlm.nih.gov/34596301/ DYT31 A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. MIM:619637 DYT32 disease_ontology DOID:0060939 dystonia 32 DOID:0060939 A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. url:https://pubmed.ncbi.nlm.nih.gov/33452836/ DYT32 A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22. MIM:619687 disease_ontology DOID:0060940 dystonia 33 DOID:0060940 A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22. url:https://pubmed.ncbi.nlm.nih.gov/33236446/ An interstitial lung disease characterized by a progressive remodeling of the alveolar interstitium that has_material_basis_in heterozygous mutation in the SFTPA1 gene on chromosome 10q22. GARD:8609 MIM:619611 ORDO:2032 Idiopathic pulmonary fibrosis disease_ontology DOID:0060941 interstitial lung disease 1 DOID:0060941 An interstitial lung disease characterized by a progressive remodeling of the alveolar interstitium that has_material_basis_in heterozygous mutation in the SFTPA1 gene on chromosome 10q22. url:https://academic.oup.com/hmg/article/25/8/1457/2384565 url:https://pubmed.ncbi.nlm.nih.gov/30854216/ An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22. MIM:620727 disease_ontology DOID:0060942 Ullrich congenital muscular dystrophy 1B DOID:0060942 An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22. url:https://pubmed.ncbi.nlm.nih.gov/23622361/ An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37. MIM:620728 disease_ontology DOID:0060943 Ullrich congenital muscular dystrophy 1C DOID:0060943 An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37. url:https://pubmed.ncbi.nlm.nih.gov/23622361/ A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13. MIM:620245 disease_ontology DOID:0060944 episodic kinesigenic dyskinesia 3 DOID:0060944 A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13. url:https://pubmed.ncbi.nlm.nih.gov/34518509/ An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21. GARD:5791 MIM:620104 ORDO:88661 disease_ontology DOID:0060945 amelogenesis imperfecta type 1K DOID:0060945 An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/33652941/ An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22. MIM:254090 disease_ontology DOID:0060946 Ullrich congenital muscular dystrophy 1A DOID:0060946 An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22. url:https://pubmed.ncbi.nlm.nih.gov/23622361/ An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12. MIM:620779 disease_ontology DOID:0060947 autosomal recessive intellectual developmental disorder 82 DOID:0060947 An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12. url:https://pubmed.ncbi.nlm.nih.gov/37226891/ An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q. GARD:4769 MIM:616470 ORDO:75840 disease_ontology DOID:0060948 Ullrich congenital muscular dystrophy 2 DOID:0060948 An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q. url:https://pubmed.ncbi.nlm.nih.gov/24334604/ An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. GARD:13202 MIM:250620 ORDO:88639 HIBCH deficiency Methacrylic aciduria Valine metabolic defect disease_ontology DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency DOID:0060949 An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. url:https://pubmed.ncbi.nlm.nih.gov/24299452/ An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. MIM:618850 branched-chain aminotransferase 2 deficiency disease_ontology DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia DOID:0060950 An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/25653144/ An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. MIM:618061 disease_ontology DOID:0060951 polycystic kidney disease 6 DOID:0060951 An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. url:https://pubmed.ncbi.nlm.nih.gov/29706351/ A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. MIM:620056 disease_ontology DOID:0060952 polycystic kidney disease 7 DOID:0060952 A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. url:https://pubmed.ncbi.nlm.nih.gov/35896117/ A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. GARD:13489 MIM:617140 ORDO:500150 UMLS_CUI:C4310696 ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME Zhu-Tokita-Takenouchi-Kim syndrome disease_ontology DOID:0060953 ZTTK syndrome DOID:0060953 A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. url:https://pubmed.ncbi.nlm.nih.gov/27545680/ A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25. MIM:301043 disease_ontology DOID:0060954 Holoprosencephaly 13, X-linked DOID:0060954 A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25. url:https://pubmed.ncbi.nlm.nih.gov/31334757/ A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13. MIM:619921 disease_ontology DOID:0060955 dystonia 35, childhood-onset DOID:0060955 A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13. url:https://pubmed.ncbi.nlm.nih.gov/34542157/ A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21. MIM:620427 disease_ontology DOID:0060956 dystonia 37, early-onset with striatal lesions DOID:0060956 A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21. url:https://pubmed.ncbi.nlm.nih.gov/36333996/ A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22. MIM:619724 disease_ontology DOID:0060957 myoclonic dystonia 34 DOID:0060957 A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22. url:https://pubmed.ncbi.nlm.nih.gov/32212350/ An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13. GARD:13655 MIM:615948 ORDO:434179 disease_ontology DOID:0060958 orofaciodigital syndrome XIV DOID:0060958 An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13. url:https://pubmed.ncbi.nlm.nih.gov/24997988/ An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33. GARD:3701 MIM:252100 ORDO:2751 Mohr syndrome Oral-facial-digital syndrome type 2 disease_ontology DOID:0060959 orofaciodigital syndrome II DOID:0060959 An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33. url:https://pubmed.ncbi.nlm.nih.gov/27530628/ An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21. MIM:620107 Oral-facial-digital syndrome type XIX disease_ontology DOID:0060960 orofaciodigital syndrome XIX DOID:0060960 An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21. url:https://pubmed.ncbi.nlm.nih.gov/36084634/ An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13. MIM:617927 ORDO:508501 Oral-facial-digital syndrome type 18 Oral-facial-digital syndrome with short stature and brachymesophalangy Orofaciodigital syndrome type 18 disease_ontology DOID:0060961 orofaciodigital syndrome XVIII DOID:0060961 An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13. url:https://pubmed.ncbi.nlm.nih.gov/27060890/ An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11. MIM:620718 disease_ontology DOID:0060962 orofaciodigital syndrome XX DOID:0060962 An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11. url:https://pubmed.ncbi.nlm.nih.gov/37384395/ A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. Autosomal dominant Segawa syndrome DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION GTPCH1-deficient DRD GTPCH1-deficient dopa-responsive dystonia HPD with marked diurnal fluctuation Hereditary progressive dystonia with marked diurnal fluctuation disease_ontology DOID:0060963 obsolete dystonia, DOPA-responsive true DOID:0060963 A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. url:https://pubmed.ncbi.nlm.nih.gov/17111153/ A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21. MIM:619656 disease_ontology DOID:0060964 Loeys-Dietz syndrome 6 DOID:0060964 A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21. url:https://pubmed.ncbi.nlm.nih.gov/30157302/ An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23. MIM:618924 disease_ontology DOID:0060965 episodic ataxia type 9 DOID:0060965 An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23. url:https://pubmed.ncbi.nlm.nih.gov/30928199/ A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22. MIM:620453 disease_ontology DOID:0060966 dystonia 22, juvenile-onset DOID:0060966 A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22. url:https://pubmed.ncbi.nlm.nih.gov/33539324/ A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene. MIM:620456 disease_ontology DOID:0060967 dystonia 22, adult-onset DOID:0060967 A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene. url:https://pubmed.ncbi.nlm.nih.gov/33539324/ A hypotrichosis that is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well that has_material_basis_in homozygous mutation in the C3ORF52 gene on chromosome 3q13. MIM:620177 disease_ontology DOID:0060968 hypotrichosis 15 DOID:0060968 A hypotrichosis that is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well that has_material_basis_in homozygous mutation in the C3ORF52 gene on chromosome 3q13. url:https://pubmed.ncbi.nlm.nih.gov/32336749/ A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22. MIM:618881 ORDO:570422 GALM deficiency Galactose mutarotase deficiency Galactosemia type 4 disease_ontology DOID:0060969 galactosemia 4 DOID:0060969 A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22. url:https://pubmed.ncbi.nlm.nih.gov/30451973/ A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13. MIM:620568 disease_ontology DOID:0060970 Cornelia de Lange syndrome 6 DOID:0060970 A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/16604071/ An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22. MIM:178500 disease_ontology DOID:0060971 interstitial lung disease 2 DOID:0060971 An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22. url:https://pubmed.ncbi.nlm.nih.gov/32855221/ A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15. MIM:620152 disease_ontology DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy DOID:0060972 A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15. url:https://pubmed.ncbi.nlm.nih.gov/34607910/ An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35. MIM:619407 WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 2 disease_ontology DOID:0060973 WHIM syndrome 2 DOID:0060973 An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35. url:https://pubmed.ncbi.nlm.nih.gov/24777453/ A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13. MIM:618529 disease_ontology DOID:0060974 autosomal recessive Robinow syndrome 2 DOID:0060974 A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13. url:https://pubmed.ncbi.nlm.nih.gov/29276006/ A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21. MIM:617004 POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS disease_ontology DOID:0060975 polycystic liver disease 2 DOID:0060975 A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21. url:https://pubmed.ncbi.nlm.nih.gov/24886261/ A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14. MIM:617874 disease_ontology DOID:0060976 polycystic liver disease 3 DOID:0060976 A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14. url:https://pubmed.ncbi.nlm.nih.gov/28375157/ A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. MIM:617875 disease_ontology DOID:0060977 polycystic liver disease 4 DOID:0060977 A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. url:https://pubmed.ncbi.nlm.nih.gov/24706814/ A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23. MIM:617784 disease_ontology DOID:0060978 Fanconi anemia complementation group W DOID:0060978 A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23. url:https://pubmed.ncbi.nlm.nih.gov/28691929/ A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21. MIM:617883 disease_ontology DOID:0060979 Fanconi anemia complementation group S DOID:0060979 A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/29133208/ A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13. MIM:174050 disease_ontology DOID:0060980 polycystic liver disease 1 DOID:0060980 A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/24886261/ A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that has_material_basis_in compound heterozygous mutation in the CENATAC gene on chromosome 11q23. MIM:620153 MVA4 disease_ontology DOID:0060981 mosaic variegated aneuploidy syndrome 4 DOID:0060981 A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that has_material_basis_in compound heterozygous mutation in the CENATAC gene on chromosome 11q23. url:https://pubmed.ncbi.nlm.nih.gov/34009673/ MVA4 A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22. MIM:620189 disease_ontology DOID:0060982 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition DOID:0060982 A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22. url:https://pubmed.ncbi.nlm.nih.gov/36322655/ A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21. MIM:618666 disease_ontology DOID:0060983 sitosterolemia 2 MIM:618666 DOID:0060983 A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21. url:https://pubmed.ncbi.nlm.nih.gov/11099417/ A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11. MIM:620040 disease_ontology DOID:0060984 digenic dyskeratosis congenita DOID:0060984 A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11. url:https://pubmed.ncbi.nlm.nih.gov/35931051/ A polydactyly that has_material_basis_in heterozygous mutation in the GLI3 gene on chromosome 7p14. MIM:174700 crossed polydactyly type 1 disease_ontology DOID:0060985 preaxial polydactyly type IV DOID:0060985 A polydactyly that has_material_basis_in heterozygous mutation in the GLI3 gene on chromosome 7p14. url:https://pubmed.ncbi.nlm.nih.gov/6641002/ A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36. GARD:5289 MIM:174500 ORDO:93336 polydactyly of a triphalangeal thumb disease_ontology DOID:0060986 preaxial polydactyly II DOID:0060986 A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36. url:https://pubmed.ncbi.nlm.nih.gov/8012392/ A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13. GARD:4417 MIM:174400 ORDO:93339 disease_ontology DOID:0060987 preaxial polydactyly I DOID:0060987 A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/15405667/ A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12. MIM:615935 disease_ontology DOID:0060988 pancreatic agenesis 2 DOID:0060988 A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12. url:https://pubmed.ncbi.nlm.nih.gov/24212882/ A syndrome characterized by distinctive facial features including midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding with keletal anomalies including patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray that has_material_basis_in heterozygous mutation in the BMP2 gene on chromosome 20p12. MIM:617877 SSFSC1 disease_ontology DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 DOID:0060989 A syndrome characterized by distinctive facial features including midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding with keletal anomalies including patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray that has_material_basis_in heterozygous mutation in the BMP2 gene on chromosome 20p12. url:https://pubmed.ncbi.nlm.nih.gov/29198724/ SSFSC1 A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24. MIM:619775 disease_ontology DOID:0060990 congenital disorder of deglycosylation 2 DOID:0060990 A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24. url:https://pubmed.ncbi.nlm.nih.gov/35045343/ A carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins. disease_ontology DOID:0060991 congenital disorder of deglycosylation DOID:0060991 A carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins. url:https://www.chop.edu/conditions-diseases/congenital-disorders-glycosylation-cdg A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. MIM:614592 disease_ontology DOID:0060992 bent bone dysplasia syndrome 1 DOID:0060992 A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. url:https://pubmed.ncbi.nlm.nih.gov/22387015/ A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13. MIM:620076 disease_ontology DOID:0060993 bent bone dysplasia syndrome 2 DOID:0060993 A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13. url:https://pubmed.ncbi.nlm.nih.gov/33242826/ A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36. MIM:617086 disease_ontology DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 DOID:0060994 A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36. url:https://pubmed.ncbi.nlm.nih.gov/26783368/ A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11. MIM:619840 MACTHC2 disease_ontology DOID:0060995 autosomal dominant isolated macrothrombocytopenia 2 DOID:0060995 A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11. url:https://pubmed.ncbi.nlm.nih.gov/34704371/ MACTHC2 A poor metabolism of thiopurines that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14. MIM:616903 disease_ontology DOID:0060996 poor metabolism of thiopurines 2 DOID:0060996 A poor metabolism of thiopurines that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14. url:https://pubmed.ncbi.nlm.nih.gov/26878724/ A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13. MIM:613325 RTPS2 disease_ontology DOID:0060997 rhabdoid tumor predisposition syndrome 2 MIM:613325 DOID:0060997 A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/24752781/ RTPS2 A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that has_material_basis_in heterozygous mutation in the PDE10A gene on chromosome 6q27. MIM:616922 disease_ontology DOID:0060998 striatal degeneration 2 DOID:0060998 A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that has_material_basis_in heterozygous mutation in the PDE10A gene on chromosome 6q27. url:https://pubmed.ncbi.nlm.nih.gov/27058447/ A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3. MIM:620300 MTPD2 disease_ontology DOID:0060999 mitochondrial trifunctional protein deficiency 2 DOID:0060999 A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3. url:https://pubmed.ncbi.nlm.nih.gov/12754706/ MTPD2 A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21. MIM:620398 GCE2 disease_ontology DOID:0061001 glycine encephalopathy 2 DOID:0061001 A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21. url:https://pubmed.ncbi.nlm.nih.gov/8005589/ GCE2 A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27. MIM:620481 disease_ontology DOID:0061002 congenital amegakaryocytic thrombocytopenia 2 DOID:0061002 A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27. url:https://pubmed.ncbi.nlm.nih.gov/28559357/ A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12. MIM:260370 disease_ontology DOID:0061003 pancreatic agenesis 1 DOID:0061003 A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12. url:https://pubmed.ncbi.nlm.nih.gov/20009086/ A poor metabolism of thiopurines that has_material_basis_in homozygous or compound heterozygous mutation in the TPMT gene on chromosome 6p22. MIM:610460 disease_ontology DOID:0061004 poor metabolism of thiopurines 1 DOID:0061004 A poor metabolism of thiopurines that has_material_basis_in homozygous or compound heterozygous mutation in the TPMT gene on chromosome 6p22. url:https://pubmed.ncbi.nlm.nih.gov/2758725/ A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34. MIM:604498 disease_ontology DOID:0061005 congenital amegakaryocytic thrombocytopenia 1 DOID:0061005 A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34. url:https://pubmed.ncbi.nlm.nih.gov/16351641/ An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the TIMELESS gene on chromosome 12q13. MIM:620015 FASPS4 familial advanced sleep phase syndrome 4 disease_ontology DOID:0061006 advanced sleep phase syndrome 4 DOID:0061006 An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the TIMELESS gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/31138685/ FASPS4 A sideroblastic anemia that is characterized by abnormal iron accumulation in the mitochondria or erythroid cells that has_material_basis_in compound heterozygous mutation in the HSCB gene on chromosome 22q12. MIM:619523 SIDBA5 disease_ontology DOID:0061007 Only 1 patient has been reported, 11/12/2024. sideroblastic anemia 5 DOID:0061007 A sideroblastic anemia that is characterized by abnormal iron accumulation in the mitochondria or erythroid cells that has_material_basis_in compound heterozygous mutation in the HSCB gene on chromosome 22q12. url:https://pubmed.ncbi.nlm.nih.gov/32634119/ SIDBA5 A craniosynostosis that has_material_basis_in heterozygous mutation in the ZIC1 gene on chromosome 3q24. MIM:616602 CRS6 disease_ontology DOID:0061008 craniosynostosis 6 DOID:0061008 A craniosynostosis that has_material_basis_in heterozygous mutation in the ZIC1 gene on chromosome 3q24. url:https://pubmed.ncbi.nlm.nih.gov/26340333/ CRS6 A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35. GARD:5538 MIM:604757 ORDO:1541 CRS2 Craniosynostosis Boston type Craniosynostosis Warman type Warman-Mulliken-Hayward syndrome disease_ontology DOID:0061009 craniosynostosis 2 DOID:0061009 A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35. url:https://pubmed.ncbi.nlm.nih.gov/23438589/ CRS2 A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. MIM:123100 CRS1 disease_ontology DOID:0061010 craniosynostosis 1 DOID:0061010 A craniosynostosis that has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. url:https://pubmed.ncbi.nlm.nih.gov/23438589/ CRS1 A craniosynostosis that has_material_basis_in heterozygous mutation in the TCF12 gene on chromosome 15q21. MIM:615314 CRS3 disease_ontology DOID:0061011 craniosynostosis 3 DOID:0061011 A craniosynostosis that has_material_basis_in heterozygous mutation in the TCF12 gene on chromosome 15q21. url:https://pubmed.ncbi.nlm.nih.gov/23438589/ CRS3 A craniosynostosis that has_material_basis_in heterozygous mutation in the ERF gene on chromosome 19q13. MIM:600775 ORDO:647681 CRS4 disease_ontology DOID:0061012 craniosynostosis 4 DOID:0061012 A craniosynostosis that has_material_basis_in heterozygous mutation in the ERF gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/23438589/ CRS4 A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that has_material_basis_in homozygous mutation in the SPIDR gene on chromosome 8q11. MIM:619665 ODG9 disease_ontology DOID:0061013 ovarian dysgenesis 9 DOID:0061013 A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that has_material_basis_in homozygous mutation in the SPIDR gene on chromosome 8q11. url:https://pubmed.ncbi.nlm.nih.gov/34697795/ ODG9 A 46 XX gonadal dysgenesis characterized by primary amenorrhea and absent puberty that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12. MIM:619834 ODG10 disease_ontology DOID:0061014 ovarian dysgenesis 10 DOID:0061014 A 46 XX gonadal dysgenesis characterized by primary amenorrhea and absent puberty that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12. url:https://pubmed.ncbi.nlm.nih.gov/34402903/ ODG10 A syndromic X-linked intellectual disability that has_material_basis_in heterozygous mutation in the ZC4H2 gene on chromosome Xq11. MIM:301041 WRWFFR disease_ontology DOID:0061015 PS314580 female-restricted Wieacker-Wolff syndrome DOID:0061015 A syndromic X-linked intellectual disability that has_material_basis_in heterozygous mutation in the ZC4H2 gene on chromosome Xq11. url:https://pubmed.ncbi.nlm.nih.gov/31206972/ WRWFFR A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21. MIM:618160 IGHD5 Isolated growth hormone deficiency type V disease_ontology DOID:0061016 combined or isolated pituitary growth hormone deficiency 7 DOID:0061016 A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21. url:https://pubmed.ncbi.nlm.nih.gov/33650182/ IGHD5 A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the LHX4 gene on chromosome 1q25. GARD:10604 MIM:262700 short stature-pituitary and cerebellar defects-small sella turcica syndrome disease_ontology DOID:0061017 combined pituitary hormone deficiency 4 DOID:0061017 A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the LHX4 gene on chromosome 1q25. url:https://pubmed.ncbi.nlm.nih.gov/17527005/ A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the ROBO1 gene on chromosome 3p12. MIM:620303 CPHD8 disease_ontology DOID:0061018 combined or isolated pituitary hormone deficiency 8 DOID:0061018 A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the ROBO1 gene on chromosome 3p12. url:https://pubmed.ncbi.nlm.nih.gov/28402530/ CPHD8 A combined pituitary hormone deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11. MIM:613038 CPHD1 disease_ontology DOID:0061019 combined or isolated pituitary hormone deficiency 1 DOID:0061019 A combined pituitary hormone deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11. url:https://pubmed.ncbi.nlm.nih.gov/34270938/ CPHD1 A combined pituitary hormone deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PROP1 gene on chromosome 5q35. MIM:262600 CPHD2 disease_ontology DOID:0061020 combined pituitary hormone deficiency 2 DOID:0061020 A combined pituitary hormone deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PROP1 gene on chromosome 5q35. url:https://pubmed.ncbi.nlm.nih.gov/9462743/ CPHD2 A combined pituitary hormone deficiency that has_material_basis_in homozygous mutation in the LHX3 gene on chromosome 9q34. MIM:221750 CPHD3 disease_ontology DOID:0061021 combined pituitary hormone deficiency 3 DOID:0061021 A combined pituitary hormone deficiency that has_material_basis_in homozygous mutation in the LHX3 gene on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/10835633/ CPHD3 A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q21. MIM:613986 CPHD6 disease_ontology DOID:0061022 combined pituitary hormone deficiency 6 DOID:0061022 A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q21. url:https://pubmed.ncbi.nlm.nih.gov/18728160/ CPHD6 A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22. MIM:619691 TTD8 disease_ontology DOID:0061023 nonphotosensitive trichothiodystrophy 8 DOID:0061023 A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22. url:https://pubmed.ncbi.nlm.nih.gov/33909043/ TTD8 A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in homozygous mutation in the MARS1 gene on chromosome 12q13. MIM:619692 TTD9 disease_ontology DOID:0061024 Only 1 patient has been reported as of 12/17/2024. nonphotosensitive trichothiodystrophy 9 DOID:0061024 A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in homozygous mutation in the MARS1 gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/33909043/ TTD9 A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31. MIM:619433 RCM6 restrictive cardiomyopathy 6 disease_ontology DOID:0061025 familial restrictive cardiomyopathy 6 DOID:0061025 A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31. url:https://pubmed.ncbi.nlm.nih.gov/29357359/ RCM6 A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene. MIM:266140 ORDO:98867 HPP disease_ontology DOID:0061026 hereditary pyropoikilocytosis DOID:0061026 A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene. url:https://pubmed.ncbi.nlm.nih.gov/1191563/ HPP A Duane retraction syndrome that has_material_basis_in loci that maps to chromosome 8q13. MIM:126800 DURS1 disease_ontology DOID:0061027 Duane retraction syndrome 1 DOID:0061027 A Duane retraction syndrome that has_material_basis_in loci that maps to chromosome 8q13. url:https://pubmed.ncbi.nlm.nih.gov/10577917/ DURS1 A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the CHN1 gene on chromosome 2q31. MIM:604356 DURS2 disease_ontology DOID:0061028 Duane retraction syndrome 2 DOID:0061028 A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the CHN1 gene on chromosome 2q31. url:https://pubmed.ncbi.nlm.nih.gov/20034095/ DURS2 A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. MIM:617041 DURS3 disease_ontology DOID:0061029 Duane retraction syndrome 3 DOID:0061029 A Duane retraction syndrome that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. url:https://pubmed.ncbi.nlm.nih.gov/27181683/ DURS3 A blood coagulation disease characterized by spontaneous hemorrhage or prolonged bleeding. GARD:0418 disease_ontology DOID:0061030 hemophilia DOID:0061030 A blood coagulation disease characterized by spontaneous hemorrhage or prolonged bleeding. url:https://medlineplus.gov/hemophilia.html url:https://www.nhlbi.nih.gov/health/bleeding-disorders/types An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TLK2 gene on chromosome 17q23. MIM:618050 disease_ontology DOID:0061031 autosomal dominant intellectual developmental disorder 57 DOID:0061031 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TLK2 gene on chromosome 17q23. url:https://pubmed.ncbi.nlm.nih.gov/29861108/ An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SET gene on chromosome 9q34. MIM:618106 disease_ontology DOID:0061032 autosomal dominant intellectual developmental disorder 58 DOID:0061032 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SET gene on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/29688601/ An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2G gene on chromosome 10q22. MIM:618522 disease_ontology DOID:0061033 autosomal dominant intellectual developmental disorder 59 DOID:0061033 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2G gene on chromosome 10q22. url:https://pubmed.ncbi.nlm.nih.gov/30184290/ An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD) that has_material_basis_in heterozygous mutation in the MED13 gene on chromosome 17q23. MIM:618009 disease_ontology DOID:0061034 autosomal dominant intellectual developmental disorder 61 DOID:0061034 An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD) that has_material_basis_in heterozygous mutation in the MED13 gene on chromosome 17q23. url:https://pubmed.ncbi.nlm.nih.gov/29740699/ An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13. MIM:618793 disease_ontology DOID:0061035 autosomal dominant intellectual developmental disorder 62 DOID:0061035 An autosomal dominant intellectual developmental disorder that has_material_basis_in caused by heterozygous mutation in the DLG4 gene on chromosome 17p13. url:https://pubmed.ncbi.nlm.nih.gov/29460436/ An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIO gene on chromosome 5p15. MIM:618825 disease_ontology DOID:0061036 autosomal dominant intellectual developmental disorder 63 with macrocephaly DOID:0061036 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIO gene on chromosome 5p15. url:https://pubmed.ncbi.nlm.nih.gov/32109419/ An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development (ID) with speech delays that has_material_basis_in heterozygous mutation in the ZNF292 gene on chromosome 6q14. MIM:619188 disease_ontology DOID:0061037 autosomal dominant intellectual developmental disorder 64 DOID:0061037 An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development (ID) with speech delays that has_material_basis_in heterozygous mutation in the ZNF292 gene on chromosome 6q14. url:https://pubmed.ncbi.nlm.nih.gov/31723249/ An autosomal dominant intellectual developmental disorder characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KDM4B gene on chromosome 19p13. MIM:619320 disease_ontology DOID:0061038 autosomal dominant intellectual developmental disorder 65 DOID:0061038 An autosomal dominant intellectual developmental disorder characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KDM4B gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/33232677/ An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21. MIM:619910 disease_ontology DOID:0061039 autosomal dominant intellectual developmental disorder 66 DOID:0061039 An autosomal dominant intellectual developmental disorder characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay that has_material_basis_in heterozygous mutation in the ATP2B1 gene on chromosome 12q21. url:https://pubmed.ncbi.nlm.nih.gov/35358416/ An autosomal dominant intellectual developmental disorder characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood that has_material_basis_in heterozygous mutation in the GRIA1 gene on chromosome 5q33. MIM:619927 disease_ontology DOID:0061040 autosomal dominant intellectual developmental disorder 67 DOID:0061040 An autosomal dominant intellectual developmental disorder characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood that has_material_basis_in heterozygous mutation in the GRIA1 gene on chromosome 5q33. url:https://pubmed.ncbi.nlm.nih.gov/35675825/ An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly , poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13. MIM:619934 disease_ontology DOID:0061041 autosomal dominant intellectual developmental disorder 68 DOID:0061041 An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly , poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/33150406/ An autosomal dominant intellectual developmental disorder characterized by developmental delay with variably impaired intellectual development that has_material_basis_in heterozygous mutation in the LMAN2L gene on chromosome 2q11. MIM:617863 disease_ontology DOID:0061042 autosomal dominant intellectual developmental disorder 69 DOID:0061042 An autosomal dominant intellectual developmental disorder characterized by developmental delay with variably impaired intellectual development that has_material_basis_in heterozygous mutation in the LMAN2L gene on chromosome 2q11. url:https://pubmed.ncbi.nlm.nih.gov/31020005/ An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21. MIM:620157 disease_ontology DOID:0061043 autosomal dominant intellectual developmental disorder 70 DOID:0061043 An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21. url:https://pubmed.ncbi.nlm.nih.gov/32710489/ An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21. MIM:620330 disease_ontology DOID:0061044 autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities DOID:0061044 An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21. url:https://pubmed.ncbi.nlm.nih.gov/33658631/ An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13. MIM:620439 disease_ontology DOID:0061045 autosomal dominant intellectual developmental disorder 72 DOID:0061045 An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13. url:https://pubmed.ncbi.nlm.nih.gov/35567594/ An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozygous mutation in the TAF4 gene on chromosome 20q13. MIM:620450 disease_ontology DOID:0061046 autosomal dominant intellectual developmental disorder 73 DOID:0061046 An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozygous mutation in the TAF4 gene on chromosome 20q13. url:https://pubmed.ncbi.nlm.nih.gov/35904126/ An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11. MIM:620688 disease_ontology DOID:0061047 autosomal dominant intellectual developmental disorder 74 DOID:0061047 An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11. url:https://pubmed.ncbi.nlm.nih.gov/37541189/ An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the DHX9 gene on chromosome 1q25. MIM:620988 disease_ontology DOID:0061048 autosomal dominant intellectual developmental disorder 75 DOID:0061048 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the DHX9 gene on chromosome 1q25. url:https://pubmed.ncbi.nlm.nih.gov/37467750/ An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13. MIM:136630 disease_ontology DOID:0061049 autosomal dominant intellectual developmental disorder type FRA12A DOID:0061049 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous expanded CGG repeat in the 5-prime untranslated region of the DIP2B gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/17236128/ An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27. MIM:618587 MRD60 disease_ontology DOID:0061050 autosomal dominant intellectual developmental disorder 60 with seizures DOID:0061050 An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27. url:https://pubmed.ncbi.nlm.nih.gov/31104773/ MRD60 A primary immunodeficiency disease that is characterized by variable manifestations and that has_material_basis_in compound heterozygous mutation in the MCM10 gene on chromosome 10p13. MIM:619313 immunodeficiency 80 with or without cautosomal recessive inheritancediomyopathy disease_ontology DOID:0061051 immunodeficiency 80 DOID:0061051 A primary immunodeficiency disease that is characterized by variable manifestations and that has_material_basis_in compound heterozygous mutation in the MCM10 gene on chromosome 10p13. url:https://pubmed.ncbi.nlm.nih.gov/33712616/ A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33. MIM:619374 disease_ontology DOID:0061052 immunodeficiency 81 DOID:0061052 A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33. url:https://pubmed.ncbi.nlm.nih.gov/33231617/ A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22. MIM:619381 immunodeficiency 82 with systemic inflammation disease_ontology DOID:0061053 immunodeficiency 82 DOID:0061053 A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22. url:https://pubmed.ncbi.nlm.nih.gov/33782605/ A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21. MIM:619437 disease_ontology DOID:0061054 immunodeficiency 84 DOID:0061054 A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21. url:https://pubmed.ncbi.nlm.nih.gov/34155405/ A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12. MIM:619510 immunodeficiency 85 and autoimmunity disease_ontology DOID:0061055 immunodeficiency 85 DOID:0061055 A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12. url:https://pubmed.ncbi.nlm.nih.gov/31263572/ A T cell deficiency that is characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine and that has_material_basis_in homozygous mutation in the SPPL2A gene on chromosome 15q21. MIM:619549 disease_ontology DOID:0061056 immunodeficiency 86 DOID:0061056 A T cell deficiency that is characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine and that has_material_basis_in homozygous mutation in the SPPL2A gene on chromosome 15q21. url:https://pubmed.ncbi.nlm.nih.gov/30127434/ A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. MIM:619573 immunodeficiency 87 and autoimmunity disease_ontology DOID:0061057 immunodeficiency 87 DOID:0061057 A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that has_material_basis_in homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus, as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. url:https://pubmed.ncbi.nlm.nih.gov/32562707/ A primary immunodeficiency disease that is characterized by the development of disseminated mycobacterial disease following vaccination with BCG and that has_material_basis_in homozygous mutation in the TBX21 gene on chromosome 17q21. MIM:619630 disease_ontology DOID:0061058 immunodeficiency 88 DOID:0061058 A primary immunodeficiency disease that is characterized by the development of disseminated mycobacterial disease following vaccination with BCG and that has_material_basis_in homozygous mutation in the TBX21 gene on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/34160550/ A primary immunodeficiency disease that is characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease and that has_material_basis_in homozygous mutation in the CARD10 gene on chromosome 22q13. MIM:619632 immunodeficiency 89 and autoimmunity disease_ontology DOID:0061059 immunodeficiency 89 DOID:0061059 A primary immunodeficiency disease that is characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease and that has_material_basis_in homozygous mutation in the CARD10 gene on chromosome 22q13. url:https://pubmed.ncbi.nlm.nih.gov/32238915/ A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13. MIM:613759 immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction disease_ontology DOID:0061060 immunodeficiency 90 DOID:0061060 A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13. url:https://pubmed.ncbi.nlm.nih.gov/32350755/ A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13. MIM:619644 immunodeficiency 91 and hyperinflammation disease_ontology DOID:0061061 immunodeficiency 91 DOID:0061061 A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13. url:https://pubmed.ncbi.nlm.nih.gov/33876776/ A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16. MIM:619652 disease_ontology DOID:0061062 immunodeficiency 92 DOID:0061062 A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16. url:https://pubmed.ncbi.nlm.nih.gov/34623332/ A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31. MIM:619705 immunodeficiency-93 and hypertrophic cardiomyopathy disease_ontology DOID:0061063 immunodeficiency 93 DOID:0061063 A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life and that has_material_basis_in homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31. url:https://pubmed.ncbi.nlm.nih.gov/32181500/ A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11. MIM:619750 immunodeficiency 94 with autoinflammation and dysmorphic facies disease_ontology DOID:0061064 immunodeficiency 94 DOID:0061064 A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11. url:https://pubmed.ncbi.nlm.nih.gov/33517393/ A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that has_material_basis_in homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24. MIM:619773 disease_ontology DOID:0061065 immunodeficiency 95 DOID:0061065 A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that has_material_basis_in homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24. url:https://pubmed.ncbi.nlm.nih.gov/34185153/ A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13. MIM:619774 disease_ontology DOID:0061066 immunodeficiency 96 DOID:0061066 A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/30395541/ A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22. MIM:619802 immunodeficiency 97 with autoinflammation disease_ontology DOID:0061067 immunodeficiency 97 DOID:0061067 A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22. url:https://pubmed.ncbi.nlm.nih.gov/31554793/ A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22. MIM:301078 X-linked immunodeficiency 98 with autoinflammation disease_ontology DOID:0061068 immunodeficiency 98 DOID:0061068 A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22. url:https://pubmed.ncbi.nlm.nih.gov/33512449/ A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11. MIM:619846 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias disease_ontology DOID:0061069 immunodeficiency 99 DOID:0061069 A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11. url:https://pubmed.ncbi.nlm.nih.gov/32484799/ A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24. MIM:618042 immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia disease_ontology DOID:0061070 immunodeficiency 100 DOID:0061070 A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24. url:https://pubmed.ncbi.nlm.nih.gov/34145065/ A primary immunodeficiency disease that is characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV and that has_material_basis_in heterozygous mutation in the POLR3F gene on chromosome 20p11. MIM:619872 immunodeficiency 101 varicella zoster virus-specific disease_ontology DOID:0061071 immunodeficiency 101 DOID:0061071 A primary immunodeficiency disease that is characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV and that has_material_basis_in heterozygous mutation in the POLR3F gene on chromosome 20p11. url:https://pubmed.ncbi.nlm.nih.gov/30211253/ A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in the SASH3 gene on chromosome Xq26. MIM:301082 disease_ontology DOID:0061072 immunodeficiency 102 DOID:0061072 A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that has_material_basis_in hemizygous mutation in the SASH3 gene on chromosome Xq26. url:https://pubmed.ncbi.nlm.nih.gov/33876203/ A Perrault syndrome that is characterized by sensorineural hearing loss and ovarian insufficiency in females and that has_material_basis_in compound heterozygous or homozygous mutation in the DAP3 gene on chromosome 1q22. MIM:621101 PRLTS7 disease_ontology DOID:0061073 Perrault syndrome 7 DOID:0061073 A Perrault syndrome that is characterized by sensorineural hearing loss and ovarian insufficiency in females and that has_material_basis_in compound heterozygous or homozygous mutation in the DAP3 gene on chromosome 1q22. url:https://pubmed.ncbi.nlm.nih.gov/39701103/ PRLTS7 A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31. MIM:619924 disease_ontology DOID:0061074 severe combined immunodeficiency 105 DOID:0061074 A severe combined immunodeficiency that is characterized by onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the PTPRC gene on chromosome 1q31. url:https://pubmed.ncbi.nlm.nih.gov/10700239/ A primary immunodeficiency disease that is characterized by increased susceptibility to viral infections beginning in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22. MIM:619935 disease_ontology DOID:0061075 immunodeficiency 106 DOID:0061075 A primary immunodeficiency disease that is characterized by increased susceptibility to viral infections beginning in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22. url:https://pubmed.ncbi.nlm.nih.gov/35442418/ A primary immunodeficiency disease that is characterized by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs and that has_material_basis_in heterozygous mutation in the OTULIN gene on chromosome 5p15. MIM:619986 immunodeficiency 107 with susceptibility to invasive Staphylococcus aureus infection disease_ontology DOID:0061076 immunodeficiency 107 DOID:0061076 A primary immunodeficiency disease that is characterized by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs and that has_material_basis_in heterozygous mutation in the OTULIN gene on chromosome 5p15. url:https://pubmed.ncbi.nlm.nih.gov/35587511/ A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11. MIM:260570 immunodeficiency 108 with autoinflammation disease_ontology DOID:0061077 immunodeficiency 108 DOID:0061077 A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11. url:https://pubmed.ncbi.nlm.nih.gov/31201888/ A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36. MIM:620282 Immunodeficiency-109 with EBV-induced lymphoproliferation disease_ontology DOID:0061078 immunodeficiency 109 DOID:0061078 A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36. url:https://pubmed.ncbi.nlm.nih.gov/30872117/ A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that has_material_basis_in homozygous mutation in the MAP3K14 gene on chromosome 17q21. MIM:620449 disease_ontology DOID:0061079 immunodeficiency 112 DOID:0061079 A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that has_material_basis_in homozygous mutation in the MAP3K14 gene on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/29230214/ A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22. MIM:620603 folate-responsive immunodeficiency 114 disease_ontology DOID:0061080 immunodeficiency 114 DOID:0061080 A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22. url:https://pubmed.ncbi.nlm.nih.gov/36517554/ A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11. MIM:620632 immunodeficiency 115 with autoinflammation disease_ontology DOID:0061081 immunodeficiency 115 DOID:0061081 A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11. url:https://pubmed.ncbi.nlm.nih.gov/30936877/ A T cell deficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the CD8-alpha gene on chromosome 2p12. MIM:608957 disease_ontology DOID:0061082 immunodeficiency 116 DOID:0061082 A T cell deficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the CD8-alpha gene on chromosome 2p12. url:https://pubmed.ncbi.nlm.nih.gov/26563160/ A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31. MIM:620668 disease_ontology DOID:0061083 immunodeficiency 117 DOID:0061083 A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31. url:https://pubmed.ncbi.nlm.nih.gov/36736301/ A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on chromosome Xq24. MIM:301115 disease_ontology DOID:0061084 immunodeficiency 118 DOID:0061084 A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on chromosome Xq24. url:https://pubmed.ncbi.nlm.nih.gov/37875108/ A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood and that has_material_basis_in homozygous mutation in the ICOSLG gene on chromosome 21q22. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV. MIM:620825 disease_ontology DOID:0061085 immunodeficiency 119 DOID:0061085 A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood and that has_material_basis_in homozygous mutation in the ICOSLG gene on chromosome 21q22. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV. url:https://pubmed.ncbi.nlm.nih.gov/30498080/ A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13. MIM:620836 disease_ontology DOID:0061086 immunodeficiency 120 DOID:0061086 A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/31629014/ A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chromosome 16q22. MIM:620807 immunodeficiency 121 with autoinflammation disease_ontology DOID:0061087 immunodeficiency 121 DOID:0061087 A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chromosome 16q22. url:https://pubmed.ncbi.nlm.nih.gov/38503300/ A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13. MIM:620869 disease_ontology DOID:0061088 immunodeficiency 122 DOID:0061088 A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13. url:https://pubmed.ncbi.nlm.nih.gov/38099988/ A T cell deficiency that is characterized by the onset of HPV-related common cutaneous warts in the first decade of life and that has_material_basis_in homozygous mutation in the CD28 gene on chromosome 2q33. MIM:620901 immunodeficiency 123 with HPV-related verrucosis disease_ontology DOID:0061089 immunodeficiency 123 DOID:0061089 A T cell deficiency that is characterized by the onset of HPV-related common cutaneous warts in the first decade of life and that has_material_basis_in homozygous mutation in the CD28 gene on chromosome 2q33. url:https://pubmed.ncbi.nlm.nih.gov/34214472/ A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35. MIM:611291 disease_ontology DOID:0061090 severe combined immunodeficiency 124 DOID:0061090 A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35. url:https://pubmed.ncbi.nlm.nih.gov/37703920/ A B cell deficiency that is characterized by recurrent diarrhea and failure to thrive beginning in infancy followed by recurrent bacterial, viral, and fungal infections and that has_material_basis_in homozygous mutation in the FLT3LG gene on chromosome 19q13. MIM:620926 disease_ontology DOID:0061091 immunodeficiency 125 DOID:0061091 A B cell deficiency that is characterized by recurrent diarrhea and failure to thrive beginning in infancy followed by recurrent bacterial, viral, and fungal infections and that has_material_basis_in homozygous mutation in the FLT3LG gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/38701783/ A primary immunodeficiency disease that is characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis and that has_material_basis_in homozygous mutation in the TNF gene on chromosome 6p21. MIM:620977 disease_ontology DOID:0061092 immunodeficiency 127 DOID:0061092 A primary immunodeficiency disease that is characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis and that has_material_basis_in homozygous mutation in the TNF gene on chromosome 6p21. url:https://pubmed.ncbi.nlm.nih.gov/39198650/ A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21. MIM:620983 disease_ontology DOID:0061093 immunodeficiency 128 DOID:0061093 A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21. url:https://pubmed.ncbi.nlm.nih.gov/33529166/ A T cell deficiency that is characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life and that has_material_basis_in homozygous mutation in the RHOH gene on chromosome 4p14. MIM:618307 disease_ontology DOID:0061094 immunodeficiency 129 DOID:0061094 A T cell deficiency that is characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life and that has_material_basis_in homozygous mutation in the RHOH gene on chromosome 4p14. url:https://pubmed.ncbi.nlm.nih.gov/38775840/ A T cell deficiency that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21. MIM:618309 immunodeficiency 130 with HPV-related verrucosis disease_ontology DOID:0061095 immunodeficiency 130 DOID:0061095 A T cell deficiency that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21. url:https://pubmed.ncbi.nlm.nih.gov/39352394/ A primary immunodeficiency disease that is characterized recurrent infections and features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25. The disorder results from dysregulation of the actin cytoskeleton that affects certain cell lineages. MIM:620565 immunodeficiency 133 with autoimmunity and autoinflammation disease_ontology DOID:0061096 immunodeficiency 133 DOID:0061096 A primary immunodeficiency disease that is characterized recurrent infections and features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25. The disorder results from dysregulation of the actin cytoskeleton that affects certain cell lineages. url:https://pubmed.ncbi.nlm.nih.gov/37349293/ A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32. MIM:621096 disease_ontology DOID:0061097 immunodeficiency 132B DOID:0061097 A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32. url:https://pubmed.ncbi.nlm.nih.gov/39579173/ A Carpenter syndrome that has_material_basis_in homozygous mutation in the RAB23 gene on chromosome 6p11. MIM:201000 disease_ontology DOID:0061098 Carpenter syndrome 1 DOID:0061098 A Carpenter syndrome that has_material_basis_in homozygous mutation in the RAB23 gene on chromosome 6p11. url:https://pubmed.ncbi.nlm.nih.gov/20358613/ A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13. MIM:614976 disease_ontology DOID:0061099 Carpenter syndrome 2 DOID:0061099 A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF8 gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/23063620/ A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal dominant mutation. GARD:3605 ORDO:2514 disease_ontology DOID:0061100 autosomal dominant primary microcephaly DOID:0061100 A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal dominant mutation. url:https://pubmed.ncbi.nlm.nih.gov/32910914/ A primary immunodeficiency disease that is characterized by increased susceptibility to infection with certain pathogens and that has_material_basis_in heterozygous dominant-negative mutation in the TRAF3 gene on chromosome 14q32. MIM:614849 IMD132A disease_ontology DOID:0061101 immunodeficiency 132A DOID:0061101 A primary immunodeficiency disease that is characterized by increased susceptibility to infection with certain pathogens and that has_material_basis_in heterozygous dominant-negative mutation in the TRAF3 gene on chromosome 14q32. url:https://pubmed.ncbi.nlm.nih.gov/36004314/ IMD132A A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25. CMH27 familial hypertrophic cardiomyopathy 27 disease_ontology DOID:0061102 hypertrophic cardiomyopathy 27 DOID:0061102 A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15q25. url:https://pubmed.ncbi.nlm.nih.gov/26846950/ CMH27 A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34. MIM:617123 RP76 disease_ontology DOID:0061103 retinitis pigmentosa 76 MIM:617123 DOID:0061103 A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34. url:https://pubmed.ncbi.nlm.nih.gov/27391550/ RP76 A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37. MIM:620228 RP96 disease_ontology DOID:0061104 retinitis pigmentosa 96 MIM:620228 DOID:0061104 A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37. url:https://pubmed.ncbi.nlm.nih.gov/28549094/ RP96 A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. MIM:619845 RP93 disease_ontology DOID:0061105 retinitis pigmentosa 93 MIM:619845 DOID:0061105 A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. url:https://pubmed.ncbi.nlm.nih.gov/30267408/ RP93 A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on chromosome 6q14. MIM:153870 RP91 disease_ontology DOID:0061106 retinitis pigmentosa 91 MIM:153870 DOID:0061106 A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on chromosome 6q14. url:https://pubmed.ncbi.nlm.nih.gov/32817297/ RP91 A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22. MIM:619614 RP92 disease_ontology DOID:0061107 retinitis pigmentosa 92 MIM:619614 DOID:0061107 A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22. url:https://pubmed.ncbi.nlm.nih.gov/30085091/ RP92 A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22. MIM:617460 RP79 disease_ontology DOID:0061108 retinitis pigmentosa 79 MIM:617460 DOID:0061108 A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22. url:https://pubmed.ncbi.nlm.nih.gov/25190649/ RP79 A retinitis pigmentosa characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11q12. MIM:620996 RP98 disease_ontology DOID:0061109 retinitis pigmentosa 98 MIM:620996 DOID:0061109 A retinitis pigmentosa characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11q12. url:https://pubmed.ncbi.nlm.nih.gov/39191256/ RP98 A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that has_material_basis_in heterozygous mutation in the VWA8 gene on chromosome 13q14. MIM:620422 RP97 disease_ontology DOID:0061110 retinitis pigmentosa 97 MIM:620422 DOID:0061110 A retinitis pigmentosa characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity that has_material_basis_in heterozygous mutation in the VWA8 gene on chromosome 13q14. url:https://pubmed.ncbi.nlm.nih.gov/37012052/ RP97 A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. MIM:617781 RP80 disease_ontology DOID:0061111 retinitis pigmentosa 80 MIM:617781 DOID:0061111 A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. url:https://pubmed.ncbi.nlm.nih.gov/26359340/ RP80 A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13. MIM:620102 RP95 disease_ontology DOID:0061112 retinitis pigmentosa 95 MIM:620102 DOID:0061112 A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/30377383/ RP95 A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13. MIM:617433 RP78 disease_ontology DOID:0061113 retinitis pigmentosa 78 MIM:617433 DOID:0061113 A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/28132693/ RP78 An autosomal recessive intellectual developmental disorder characterized by global developmental delay with mildly delayed walking (by a few years), mild to moderate intellectual disability, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the KICS2 gene on chromosome 12q14. MIM:621100 MRT83 disease_ontology DOID:0061114 autosomal recessive intellectual developmental disorder 83 DOID:0061114 An autosomal recessive intellectual developmental disorder characterized by global developmental delay with mildly delayed walking (by a few years), mild to moderate intellectual disability, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the KICS2 gene on chromosome 12q14. url:https://pubmed.ncbi.nlm.nih.gov/39824192/ MRT83 A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34. MIM:254940 CFZS1 disease_ontology DOID:0061115 Carey-Fineman-Ziter syndrome 1 DOID:0061115 A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/27232676/ CFZS1 A Carey-Fineman-Ziter syndrome characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency that has_material_basis_inhomozygous mutation in MYMX gene on chromosome 6p21. MIM:619941 CFZS2 disease_ontology DOID:0061116 Carey-Fineman-Ziter syndrome 2 DOID:0061116 A Carey-Fineman-Ziter syndrome characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency that has_material_basis_inhomozygous mutation in MYMX gene on chromosome 6p21. url:https://pubmed.ncbi.nlm.nih.gov/39668186/ CFZS2 A Perrault syndrome that is characterized by sensorineural deafness in both males and females that has_material_basis_in compound heterozygous mutation in the HARS2 gene on chromosome 5q31. MIM:614926 disease_ontology DOID:0061117 Perrault syndrome 2 DOID:0061117 A Perrault syndrome that is characterized by sensorineural deafness in both males and females that has_material_basis_in compound heterozygous mutation in the HARS2 gene on chromosome 5q31. url:https://pubmed.ncbi.nlm.nih.gov/21464306/ An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22. MIM:174000 HNFJ2 MCKD2 familial juvenile hyperuricemic nephropathy 2 medullary cystic kidney disease 2 disease_ontology DOID:0061118 autosomal dominant tubulointerstitial kidney disease 2 DOID:0061118 An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22. url:https://pubmed.ncbi.nlm.nih.gov/31488840/ HNFJ2 MCKD2 An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32. MIM:613092 ORDO:217330 HNFJ4 MCKD4 familial juvenile hyperuricemic nephropathy 4 medullary cystic kidney disease 4 disease_ontology DOID:0061119 autosomal dominant tubulointerstitial kidney disease 4 DOID:0061119 An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32. url:https://pubmed.ncbi.nlm.nih.gov/19664745/ HNFJ4 MCKD4 An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21. MIM:617056 HNFJ5 MCKD5 familial juvenile hyperuricemic nephropathy 5 medullary cystic kidney disease 5 disease_ontology DOID:0061120 autosomal dominant tubulointerstitial kidney disease 5 DOID:0061120 An autosomal dominant tubulointerstitial kidney disease characterized by the onset of progressive chronic renal disease in the first decades of life that has_material_basis_in heterozygous mutation in the SEC61A1 gene on chromosome 3q21. url:https://pubmed.ncbi.nlm.nih.gov/27392076/ HNFJ5 MCKD5 An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23. MIM:621106 HNFJ6 MCKD6 familial juvenile hyperuricemic nephropathy 6 medullary cystic kidney disease 6 disease_ontology DOID:0061121 autosomal dominant tubulointerstitial kidney disease 6 DOID:0061121 An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23. url:https://pubmed.ncbi.nlm.nih.gov/38096951/ HNFJ6 MCKD6 An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12. MIM:162000 HNFJ1 MCKD1 familial juvenile hyperuricemic nephropathy 1 medullary cystic kidney disease 1 disease_ontology DOID:0061122 autosomal dominant tubulointerstitial kidney disease 1 DOID:0061122 An autosomal dominant tubulointerstitial kidney disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure that has_material_basis_in heterozygous mutation in the gene encoding uromodulin on chromosome 16p12. url:https://pubmed.ncbi.nlm.nih.gov/31488840/ HNFJ1 MCKD1 A visceral heterotaxy that has_material_basis_in homozygous or compound heterozygous mutation in the C1ORF127 gene on chromosome 1p36. MIM:621080 disease_ontology DOID:0061123 visceral heterotaxy 14 DOID:0061123 A visceral heterotaxy that has_material_basis_in homozygous or compound heterozygous mutation in the C1ORF127 gene on chromosome 1p36. url:https://pubmed.ncbi.nlm.nih.gov/39513328/ An autosomal recessive nonsyndromic deafness characterized by congenital nonsyndromic sensorineural hearing loss hat has_material_basis_in homozygous mutation in the GAS2 gene on chromosome 11p14. MIM:620877 DFNB125 autosomal recessive deafness 125 disease_ontology DOID:0061124 autosomal recessive nonsyndromic deafness 125 DOID:0061124 An autosomal recessive nonsyndromic deafness characterized by congenital nonsyndromic sensorineural hearing loss hat has_material_basis_in homozygous mutation in the GAS2 gene on chromosome 11p14. url:https://pubmed.ncbi.nlm.nih.gov/33964205/ Only 1 family has been reported as of 4/17/2025 DFNB125 A primary immunodeficiency disease that is characterized by low IgM, IgG, and IgA serum levels, low plasma cell counts, abnormal T-cell subsets, and early graying of hair that has_material_basis_in heterozygous or homozygous mutation in the IRF4 gene on chromosome 6p25. MIM:621097 disease_ontology DOID:0061125 immunodeficiency 131 DOID:0061125 A primary immunodeficiency disease that is characterized by low IgM, IgG, and IgA serum levels, low plasma cell counts, abnormal T-cell subsets, and early graying of hair that has_material_basis_in heterozygous or homozygous mutation in the IRF4 gene on chromosome 6p25. url:https://pubmed.ncbi.nlm.nih.gov/36917008/ An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills that has_material_basis_in homozygous or compound heterozygous mutation in the RBL2 gene on chromosome 16q12. MIM:619690 BRUWAG disease_ontology DOID:0061126 Brunet-Wagner neurodevelopmental syndrome DOID:0061126 An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills that has_material_basis_in homozygous or compound heterozygous mutation in the RBL2 gene on chromosome 16q12. url:https://pubmed.ncbi.nlm.nih.gov/33980986/ A retinitis pigmentosa that has_material_basis_in mutation in the RLBP1 gene on chromosome 15q26.1. RP99 disease_ontology DOID:0061127 retinitis pigmentosa 99 DOID:0061127 A retinitis pigmentosa that has_material_basis_in mutation in the RLBP1 gene on chromosome 15q26.1. url:https://pubmed.ncbi.nlm.nih.gov/20301590/ url:https://pubmed.ncbi.nlm.nih.gov/25429852/ RP99 A mucopolysaccharidos characterized by childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ARSK gene, which encodes arylsulfatase K, on chromosome 5q15. MIM:619698 ORDO:662216 MPS10 MSP type X mucopolysaccharidosis due to ARSK deficiency disease_ontology DOID:0061128 mucopolysaccharidosis X DOID:0061128 A mucopolysaccharidos characterized by childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ARSK gene, which encodes arylsulfatase K, on chromosome 5q15. url:https://pubmed.ncbi.nlm.nih.gov/34916232/ MPS10 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in FBXO11 gene on chromosome 2p16. MIM:618089 FBXO11-related NDD FBXO11-related neurodevelopmental disorder IDDFBA disease_ontology DOID:0061129 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities DOID:0061129 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in FBXO11 gene on chromosome 2p16. url:https://pubmed.ncbi.nlm.nih.gov/30057029/ IDDFBA An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCR gene on chromosome 5q13. MIM:620375 LGMDR28 Limb-girdle, type 28R disease_ontology DOID:0061130 autosomal recessive limb-girdle muscular dystrophy type 28 MIM:620375 DOID:0061130 An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCR gene on chromosome 5q13. url:https://pubmed.ncbi.nlm.nih.gov/36745799/ LGMDR28 An autosomal recessive limb-girdle muscular dystrophy characterized by adult-onset weakness that primarily affects the proximal muscles of the lower limbs that has_material_basis_in homozygous mutation in the POPDC3 gene on chromosome 6q21. MIM:618848 LGMDR26 disease_ontology DOID:0061131 autosomal recessive limb-girdle muscular dystrophy type 26 MIM:618848 DOID:0061131 An autosomal recessive limb-girdle muscular dystrophy characterized by adult-onset weakness that primarily affects the proximal muscles of the lower limbs that has_material_basis_in homozygous mutation in the POPDC3 gene on chromosome 6q21. url:https://pubmed.ncbi.nlm.nih.gov/31610034/ LGMDR26 An autosomal recessive limb-girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties that has_material_basis_in y homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. MIM:618138 LGMDR23 disease_ontology DOID:0061132 autosomal recessive limb-girdle muscular dystrophy type 23 MIM:618138 DOID:0061132 An autosomal recessive limb-girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties that has_material_basis_in y homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. url:https://pubmed.ncbi.nlm.nih.gov/24957499/ LGMDR23 An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation that has_material_basis_in homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32. MIM:619566 LGMDR27 disease_ontology DOID:0061133 autosomal recessive limb-girdle muscular dystrophy type 27 MIM:619566 DOID:0061133 An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation that has_material_basis_in homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32. url:https://pubmed.ncbi.nlm.nih.gov/33861953/ LGMDR27 An autosomal recessive limb-girdle muscular dystrophy characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs that has_material_basis_in homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24. MIM:620793 LGMDR29 disease_ontology DOID:0061134 autosomal recessive limb-girdle muscular dystrophy type 29 MIM:620793 DOID:0061134 An autosomal recessive limb-girdle muscular dystrophy characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs that has_material_basis_in homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24. url:https://pubmed.ncbi.nlm.nih.gov/38413582/ LGMDR29 A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC34A1 gene on chromosome 5q35. MIM:616963 disease_ontology DOID:0061135 infantile hypercalcemia 2 DOID:0061135 A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC34A1 gene on chromosome 5q35. url:https://pubmed.ncbi.nlm.nih.gov/26047794/ A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13. MIM:143880 disease_ontology DOID:0061136 infantile hypercalcemia 1 DOID:0061136 A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13. url:https://pubmed.ncbi.nlm.nih.gov/21675912/ An autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and has_material_basis_in heterozygous GAA(n) trinucleotide repeat expansion in the FGF14 gene on chromosome 13q33. MIM:620174 SCA27B disease_ontology DOID:0061137 spinocerebellar ataxia type 27B DOID:0061137 An autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and has_material_basis_in heterozygous GAA(n) trinucleotide repeat expansion in the FGF14 gene on chromosome 13q33. url:https://pubmed.ncbi.nlm.nih.gov/36516086/ SCA27B A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12. MIM:618174 CDCBM9 disease_ontology DOID:0061138 complex cortical dysplasia with other brain malformations 9 DOID:0061138 A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12. url:https://pubmed.ncbi.nlm.nih.gov/30013181/ CDCBM9 An atherosclerosis of the coronary vasculature. NCI:C35505 disease_ontology DOID:0061139 coronary atherosclerosis DOID:0061139 An atherosclerosis of the coronary vasculature. url:https://www.ncbi.nlm.nih.gov/books/NBK218744/ A syndrome that has_material_basis_in mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates. disease_ontology DOID:0061140 ragopathy DOID:0061140 A syndrome that has_material_basis_in mutations in heterodimeric Ras-related small GTP-binding proteins (Rag-GTPases), which bind mTORC1 in an amino acid-dependent manner and serve as crucial regulators of its kinase activity towards various substrates. url:https://www.nature.com/articles/s41467-024-50034-4 A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34. MIM:620316 CDCBM12 disease_ontology DOID:0061141 complex cortical dysplasia with other brain malformations 12 DOID:0061141 A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/36283405/ CDCBM12 A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32. MIM:620156 CDCBM11 disease_ontology DOID:0061142 complex cortical dysplasia with other brain malformations 11 DOID:0061142 A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32. url:https://pubmed.ncbi.nlm.nih.gov/36228617/ CDCBM11 A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter that has_material_basis_in homozygous or compound heterozygous mutation in the APC2 gene on chromosome 19p13. MIM:618677 CDCBM10 disease_ontology DOID:0061143 complex cortical dysplasia with other brain malformations 10 DOID:0061143 A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter that has_material_basis_in homozygous or compound heterozygous mutation in the APC2 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/31585108/ CDCBM10 A complex cortical dysplasia with other brain malformations characterized by global developmental delay with impaired intellectual development that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. MIM:614563 CDCBM13 disease_ontology DOID:0061144 complex cortical dysplasia with other brain malformations 13 DOID:0061144 A complex cortical dysplasia with other brain malformations characterized by global developmental delay with impaired intellectual development that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. url:https://pubmed.ncbi.nlm.nih.gov/23603762/ CDCBM13 A syndromic intellectual disability characterized by developmental delay, impaired intellectual development, dysmorphic features, and congenital anomalies in cardiovascular, skeletal, gastrointestinal, renal, and urogenital systems that has_material_basis_in heterozygous mutation in the FRY-like transcription coactivator gene on chromosome 4p11. MIM:621049 PCBS disease_ontology DOID:0061146 Pan-Chung-Bellen syndrome DOID:0061146 A syndromic intellectual disability characterized by developmental delay, impaired intellectual development, dysmorphic features, and congenital anomalies in cardiovascular, skeletal, gastrointestinal, renal, and urogenital systems that has_material_basis_in heterozygous mutation in the FRY-like transcription coactivator gene on chromosome 4p11. url:https://pubmed.ncbi.nlm.nih.gov/38479391/ PCBS An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures that has_material_basis_in heterozygous mutation in the CUL3 gene on chromosome 2q36. MIM:619239 disease_ontology DOID:0061147 neurodevelopmental disorder with or without autism or seizures DOID:0061147 An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures that has_material_basis_in heterozygous mutation in the CUL3 gene on chromosome 2q36. url:https://pubmed.ncbi.nlm.nih.gov/32341456/ A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13. MIM:617248 3-methylglutaconic aciduria type VIII, MGCA8 disease_ontology DOID:0070000 3-methylglutaconic aciduria type 8 DOID:0070000 A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13. url:https://www.ncbi.nlm.nih.gov/pubmed/27208207 url:https://www.ncbi.nlm.nih.gov/pubmed/27696117 A disease of cellular proliferation that results in an abnormal mass of tissue. disease_ontology DOID:0070001 obsolete neoplastic disease true DOID:0070001 A disease of cellular proliferation that results in an abnormal mass of tissue. url:http://en.wikipedia.org/wiki/Neoplasm A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13. MIM:617698 3-methylglutaconic acuduria type IX, MGCA9 disease_ontology DOID:0070002 3-methylglutaconic aciduria type 9 DOID:0070002 A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/27573165 A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells. disease_ontology DOID:0070003 blastoma DOID:0070003 A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells. url:https://en.wikipedia.org/wiki/Blastoma A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages. disease_ontology DOID:0070004 myeloid neoplasm DOID:0070004 A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages. url:http://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf url:https://www.ncbi.nlm.nih.gov/pubmed/19357394 A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21. MIM:616777 SCKL9 disease_ontology DOID:0070005 Seckel syndrome 9 DOID:0070005 A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/26595769 SCKL9 A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22. MIM:614728 SCKL6 disease_ontology DOID:0070006 Seckel syndrome 6 DOID:0070006 A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22. url:https://www.ncbi.nlm.nih.gov/pubmed/21983783 SCKL6 A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. MESH:C537533 MIM:210600 SCKL1 microcephalic primordial dwarfism I disease_ontology DOID:0070007 Seckel syndrome 1 DOID:0070007 A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. url:https://www.ncbi.nlm.nih.gov/pubmed/12640452 SCKL1 A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24. MIM:617253 SCKL10 disease_ontology DOID:0070008 Seckel syndrome 10 DOID:0070008 A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24. url:https://www.ncbi.nlm.nih.gov/pubmed/25105364 SCKL10 A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21. MIM:615807 SCKL8 disease_ontology DOID:0070009 Seckel syndrome 8 DOID:0070009 A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21. url:https://www.ncbi.nlm.nih.gov/pubmed/24389050 SCKL8 A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12. MIM:613676 SCKL4 disease_ontology DOID:0070010 Seckel syndrome 4 DOID:0070010 A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12. url:https://www.ncbi.nlm.nih.gov/pubmed/20522431 SCKL4 A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22. MIM:614851 SCKL7 disease_ontology DOID:0070011 Seckel syndrome 7 DOID:0070011 A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22. url:https://www.ncbi.nlm.nih.gov/pubmed/22933543 SCKL7 A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. MIM:613823 SCKL5 disease_ontology DOID:0070012 Seckel syndrome 5 DOID:0070012 A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. url:https://www.ncbi.nlm.nih.gov/pubmed/21131973 SCKL5 A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. MESH:C537534 MIM:606744 SCKL2 Seckel-type dwarfism 2 microcephalic primordial dwarfism 2 disease_ontology DOID:0070013 Seckel syndrome 2 DOID:0070013 A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. url:https://pubmed.ncbi.nlm.nih.gov/11781686/ url:https://www.ncbi.nlm.nih.gov/pubmed/21998596 SCKL2 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. MIM:127550 DKCA1 Dyskeratosis Congenita, Scoggins Type disease_ontology DOID:0070014 autosomal dominant dyskeratosis congenita 1 DOID:0070014 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. url:https://www.ncbi.nlm.nih.gov/pubmed/11574891 DKCA1 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. MIM:224230 DKCB1 disease_ontology DOID:0070015 autosomal recessive dyskeratosis congenita 1 DOID:0070015 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. url:https://www.ncbi.nlm.nih.gov/pubmed/17507419 DKCB1 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. MIM:613989 DKCA2 disease_ontology DOID:0070016 autosomal dominant dyskeratosis congenita 2 DOID:0070016 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. url:https://www.ncbi.nlm.nih.gov/pubmed/16247010 DKCA2 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. MIM:613987 DKCB2 disease_ontology DOID:0070017 autosomal recessive dyskeratosis congenita 2 DOID:0070017 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. url:https://www.ncbi.nlm.nih.gov/pubmed/18523010 DKCB2 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12. MIM:613990 DKCA3 disease_ontology DOID:0070018 autosomal dominant dyskeratosis congenita 3 DOID:0070018 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12. url:https://www.ncbi.nlm.nih.gov/pubmed/18252230 DKCA3 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. MIM:613988 DKCB3 disease_ontology DOID:0070019 autosomal recessive dyskeratosis congenita 3 DOID:0070019 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/21205863 DKCB3 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. DKCA4 disease_ontology DOID:0070020 autosomal dominant dyskeratosis congenita 4 DOID:0070020 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. url:https://www.ncbi.nlm.nih.gov/pubmed/23329068 DKCA4 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33. DKCB4 disease_ontology DOID:0070021 autosomal recessive dyskeratosis congenita 4 DOID:0070021 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33. url:https://www.ncbi.nlm.nih.gov/pubmed/17785587 DKCB4 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. MIM:615190 DKCB5 disease_ontology DOID:0070022 autosomal recessive dyskeratosis congenita 5 DOID:0070022 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. url:https://www.ncbi.nlm.nih.gov/pubmed/19461895 DKCB5 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. MIM:616553 DKCA6 disease_ontology DOID:0070023 autosomal dominant dyskeratosis congenita 6 DOID:0070023 A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/25205116 DKCA6 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12. MIM:616353 DKCB6 disease_ontology DOID:0070024 autosomal recessive dyskeratosis congenita 6 DOID:0070024 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12. url:https://www.ncbi.nlm.nih.gov/pubmed/25893599 DKCB6 A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. MIM:305000 DKCX Zinsser-Cole-Engman syndrome disease_ontology DOID:0070025 X-linked dyskeratosis congenita DOID:0070025 A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/9590285 DKCX A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. GARD:4695 MIM:268130 DKCA5 Dyskeratosis Congenita, Autosomal Dominant 5 exudative retinopathy with bone marrow failure disease_ontology DOID:0070026 Revesz syndrome DOID:0070026 A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. url:https://www.ncbi.nlm.nih.gov/pubmed/18252230 DKCA5 A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21. MIM:105150 Amyloidosis VI Amyloidosis, Cerebroarterial, Icelandic Type Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant HCHWA Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant disease_ontology DOID:0070027 CST3-related cerebral amyloid angiopathy DOID:0070027 A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/2900981 HCHWA A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. MIM:605714 Amyloidosis, Cerebroarterial, App-Related Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Arctic Variant Cerebral Amyloid Angiopathy, App-Related, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Flemish Variant Cerebral Amyloid Angiopathy, App-Related, Iowa Variant Cerebral Amyloid Angiopathy, App-Related, Italian Variant HCHWAD disease_ontology DOID:0070028 APP-related cerebral amyloid angiopathy DOID:0070028 A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/2111584 HCHWAD A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14. GARD:8344 MIM:176500 Cerebral Amyloid Angiopathy, British Type FBD Familial British Dementia Presenile Dementia with Spastic Ataxia disease_ontology DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 DOID:0070029 A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14. url:https://www.ncbi.nlm.nih.gov/pubmed/10391242 url:https://www.ncbi.nlm.nih.gov/pubmed/7086452 FBD A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. MIM:117300 Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis FDD Familial Danish Dementia HOOE Heredopathia Ophthalmootoencephalica disease_ontology DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 DOID:0070030 A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10781099 FDD HOOE An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. MIM:156200 MRD1 autosomal dominant mental retardation 1 autosomal dominant non-syndromic intellectual disability 1 disease_ontology DOID:0070031 autosomal dominant intellectual developmental disorder 1 DOID:0070031 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. url:https://www.ncbi.nlm.nih.gov/pubmed/21981781 MRD1 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24. MIM:614113 MRD2 autosomal dominant mental retardation 2 autosomal dominant non-syndromic intellectual disability 2 disease_ontology DOID:0070032 autosomal dominant intellectual developmental disorder 2 DOID:0070032 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24. url:https://www.ncbi.nlm.nih.gov/pubmed/18060736 MRD2 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3. MIM:612580 MRD3 autosomal dominant mental retardation 3 autosomal dominant non-syndromic intellectual disability 3 disease_ontology DOID:0070033 autosomal dominant intellectual developmental disorder 3 DOID:0070033 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19012874 MRD3 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2. MIM:612581 MRD4 autosomal dominant mental retardation 4 autosomal dominant non-syndromic intellectual disability 4 disease_ontology DOID:0070034 autosomal dominant intellectual developmental disorder 4 DOID:0070034 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2. url:https://www.ncbi.nlm.nih.gov/pubmed/19012874 MRD4 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. MIM:612621 MRD5 autosomal dominant mental retardation 5 autosomal dominant non-syndromic intellectual disability 5 disease_ontology DOID:0070035 autosomal dominant intellectual developmental disorder 5 DOID:0070035 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. url:https://www.ncbi.nlm.nih.gov/pubmed/19196676 MRD5 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. MIM:613970 MRD6 autosomal dominant mental retardation 6 autosomal dominant non-syndromic intellectual disability 6 disease_ontology DOID:0070036 autosomal dominant intellectual developmental disorder 6 DOID:0070036 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/20890276 MRD6 An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. MIM:614104 DYRK1A syndrome MRD7 autosomal dominant mental retardation 7 autosomal dominant non-syndromic intellectual disability 7 disease_ontology DOID:0070037 autosomal dominant intellectual developmental disorder 7 DOID:0070037 An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. url:https://www.ncbi.nlm.nih.gov/books/NBK333438/ url:https://www.ncbi.nlm.nih.gov/pubmed/23160955 MRD7 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3. MIM:614254 MRD8 autosomal dominant mental retardation 8 autosomal dominant non-syndromic intellectual disability 8 disease_ontology DOID:0070038 autosomal dominant intellectual developmental disorder 8 DOID:0070038 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21376300 MRD8 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. MIM:614255 NCI:C133742 UMLS_CUI:C3280283 MRD9 NESCAVS autosomal dominant intellectual disability 9 autosomal dominant mental retardation 9 autosomal dominant non-syndromic intellectual disability 9 neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment disease_ontology DOID:0070039 NESCAV syndrome DOID:0070039 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21376300 MRD9 NESCAVS An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3. MIM:614256 MRD10 autosomal dominant mental retardation 10 autosomal dominant non-syndromic intellectual disability 10 disease_ontology DOID:0070040 autosomal dominant intellectual developmental disorder 10 DOID:0070040 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21376300 MRD10 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23. MIM:614257 MRD11 autosomal dominant mental retardation 11 autosomal dominant non-syndromic intellectual disability 11 disease_ontology DOID:0070041 autosomal dominant intellectual developmental disorder 11 DOID:0070041 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/21376300 MRD11 A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. MIM:135900 CSS1 MRD12 autosomal dominant mental retardation 12 fifth digit syndrome disease_ontology DOID:0070042 Coffin-Siris syndrome 1 DOID:0070042 A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/22405089 CSS1 MRD12 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31. MIM:614563 MRD13 autosomal dominant mental retardation 13 autosomal dominant non-syndromic intellectual disability 13 mental retardation, autosomal dominant 13, with neuronal migration defects disease_ontology DOID:0070043 autosomal dominant intellectual developmental disorder 13 DOID:0070043 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31. url:https://www.ncbi.nlm.nih.gov/pubmed/21076407 MRD13 A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11. MIM:614607 CSS2 MRD14 autosomal dominant mental retardation 14 disease_ontology DOID:0070044 Coffin-Siris syndrome 2 DOID:0070044 A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11. url:https://www.ncbi.nlm.nih.gov/pubmed/22426308 CSS2 MRD14 A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. MIM:614608 CSS3 MRD15 autosomal dominant mental retardation 15 disease_ontology DOID:0070045 Coffin-Siris syndrome 3 DOID:0070045 A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/22426308 CSS3 MRD15 A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. MIM:614609 CSS4 MRD16 autosomal dominant mental retardation 16 disease_ontology DOID:0070046 Coffin-Siris syndrome 4 DOID:0070046 A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/22426308 CSS4 MRD16 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. MIM:615009 MRD17 SHMS autosomal dominant mental retardation 17 disease_ontology DOID:0070047 Schuurs-Hoeijmakers Syndrome DOID:0070047 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/26842493 MRD17 SHMS An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3. MIM:615074 MRD18 autosomal dominant intellectual developmental disorder 18 autosomal dominant mental retardation 18 autosomal dominant non-syndromic intellectual disability 18 disease_ontology DOID:0070048 GAND syndrome DOID:0070048 An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3. url:https://pubmed.ncbi.nlm.nih.gov/31949314/ url:https://www.ncbi.nlm.nih.gov/pubmed/23033978 MRD18 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1. MIM:615075 MRD19 autosomal dominant mental retardation 19 autosomal dominant non-syndromic intellectual disability 19 disease_ontology DOID:0070049 autosomal dominant intellectual developmental disorder 19 DOID:0070049 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/23033978 MRD19 An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3. MIM:613443 MRD20 autosomal dominant mental retardation 20 mental retardation, autosomal dominant 20 disease_ontology DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language DOID:0070050 An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3. url:https://www.ncbi.nlm.nih.gov/pubmed/20513142 MRD20 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1. MIM:615502 MRD21 autosomal dominant mental retardation 21 autosomal dominant non-syndromic intellectual disability 21 disease_ontology DOID:0070051 autosomal dominant intellectual developmental disorder 21 DOID:0070051 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/23746550 MRD21 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44. MIM:612337 MRD22 autosomal dominant mental retardation 22 autosomal dominant non-syndromic intellectual disability 22 disease_ontology DOID:0070052 autosomal dominant intellectual developmental disorder 22 DOID:0070052 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44. url:https://www.ncbi.nlm.nih.gov/pubmed/24193349 MRD22 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3. MIM:615761 MRD23 autosomal dominant mental retardation 23 autosomal dominant non-syndromic intellectual disability 23 disease_ontology DOID:0070053 autosomal dominant intellectual developmental disorder 23 DOID:0070053 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/24680889 MRD23 An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5. MIM:615828 IDDISBAS MRD24 VSVS autosomal dominant mental retardation 24 autosomal dominant non-syndromic intellectual disability 24 intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures disease_ontology DOID:0070054 Vulto-van Silfout-de Vries syndrome DOID:0070054 An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5. url:https://pubmed.ncbi.nlm.nih.gov/30923367/ url:https://www.ncbi.nlm.nih.gov/pubmed/21076407 IDDISBAS MRD24 VSVS An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3. GARD:13409 MIM:615829 MRD25 autosomal dominant mental retardation 25 disease_ontology DOID:0070055 Xia-Gibbs Syndrome DOID:0070055 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3. url:https://www.ncbi.nlm.nih.gov/pubmed/24791903 MRD25 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22. MIM:615834 MRD26 autosomal dominant mental retardation 26 autosomal dominant non-syndromic intellectual disability 26 disease_ontology DOID:0070056 autosomal dominant intellectual developmental disorder 26 DOID:0070056 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22. url:https://www.ncbi.nlm.nih.gov/pubmed/23332918 MRD26 An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2. MIM:615866 MRD27 autosomal dominant mental retardation 27 autosomal dominant non-syndromic intellectual disability 27 disease_ontology DOID:0070057 Coffin-Siris syndrome 9 DOID:0070057 An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2. url:https://www.ncbi.nlm.nih.gov/pubmed/24886874 MRD27 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13. MIM:615873 HVDAS MRD28 autosomal dominant mental retardation 28 disease_ontology DOID:0070058 Helsmoortel-Van Der Aa Syndrome DOID:0070058 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13. url:https://www.ncbi.nlm.nih.gov/pubmed/24531329 HVDAS MRD28 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3. MIM:616078 MRD29 autosomal dominant mental retardation 29 autosomal dominant non-syndromic intellectual disability 29 disease_ontology DOID:0070059 autosomal dominant intellectual developmental disorder 29 DOID:0070059 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25217958 MRD29 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3. MIM:616083 MRD30 autosomal dominant mental retardation 30 autosomal dominant non-syndromic intellectual disability 30 disease_ontology DOID:0070060 autosomal dominant intellectual developmental disorder 30 DOID:0070060 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25217958 MRD30 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. MIM:616158 MRD31 autosomal dominant mental retardation 31 autosomal dominant non-syndromic intellectual disability 31 disease_ontology DOID:0070061 autosomal dominant intellectual developmental disorder 31 DOID:0070061 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25439098 MRD31 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. MIM:616268 ORDO:457193 ARTHS MRD32 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome autosomal dominant mental retardation 32 autosomal dominant non-syndromic intellectual disability 32 disease_ontology DOID:0070062 Arboleda-Tham syndrome DOID:0070062 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/25728775 ARTHS MRD32 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2. MIM:616311 MRD33 autosomal dominant mental retardation 33 autosomal dominant non-syndromic intellectual disability 33 disease_ontology DOID:0070063 autosomal dominant intellectual developmental disorder 33 DOID:0070063 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2. url:https://www.ncbi.nlm.nih.gov/pubmed/23832105 MRD33 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3. MIM:616351 MRD34 autosomal dominant mental retardation 34 autosomal dominant non-syndromic intellectual disability 34 disease_ontology DOID:0070064 autosomal dominant intellectual developmental disorder 34 DOID:0070064 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25533962 MRD34 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1. MIM:616355 MRD35 autosomal dominant mental retardation 35 autosomal dominant non-syndromic intellectual disability 35 disease_ontology DOID:0070065 autosomal dominant intellectual developmental disorder 35 DOID:0070065 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/25533962 MRD35 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41. MIM:616362 MRD36 autosomal dominant mental retardation 36 autosomal dominant non-syndromic intellectual disability 36 disease_ontology DOID:0070066 autosomal dominant intellectual developmental disorder 36 DOID:0070066 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41. url:https://www.ncbi.nlm.nih.gov/pubmed/25533962 MRD36 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3. MIM:616364 MRD37 WHSUS autosomal dominant mental retardation 37 disease_ontology DOID:0070067 White-Sutton syndrome DOID:0070067 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25533962 MRD37 WHSUS An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. MIM:616393 MRD38 PRELDS autosomal dominant mental retardation 38 autosomal dominant non-syndromic intellectual disability 38 psychomotor retardation, epilepsy, and language disability syndrome disease_ontology DOID:0070068 autosomal dominant intellectual developmental disorder 38 DOID:0070068 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. url:https://www.ncbi.nlm.nih.gov/pubmed/24697219 MRD38 PRELDS An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3. MIM:616521 MRD39 autosomal dominant mental retardation 39 autosomal dominant non-syndromic intellectual disability 39 disease_ontology DOID:0070069 autosomal dominant intellectual developmental disorder 39 DOID:0070069 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/23033978 MRD39 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34. MIM:616579 MRD40 autosomal dominant mental retardation 40 autosomal dominant non-syndromic intellectual disability 40 disease_ontology DOID:0070070 autosomal dominant intellectual developmental disorder 40 DOID:0070070 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34. url:https://www.ncbi.nlm.nih.gov/pubmed/25533962 MRD40 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32. MIM:616944 MRD41 autosomal dominant mental retardation 41 autosomal dominant non-syndromic intellectual disability 41 disease_ontology DOID:0070071 autosomal dominant intellectual developmental disorder 41 DOID:0070071 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32. url:https://www.ncbi.nlm.nih.gov/pubmed/25102098 MRD41 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33. MIM:616973 MRD42 autosomal dominant mental retardation 42 autosomal dominant non-syndromic intellectual disability 42 disease_ontology DOID:0070072 autosomal dominant intellectual developmental disorder 42 DOID:0070072 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33. url:https://www.ncbi.nlm.nih.gov/pubmed/27108799 MRD42 An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. MIM:616977 MRD43 autosomal dominant mental retardation 43 autosomal dominant non-syndromic intellectual disability 43 disease_ontology DOID:0070073 autosomal dominant intellectual developmental disorder 43 DOID:0070073 An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. url:https://pubmed.ncbi.nlm.nih.gov/27003583/ url:https://www.ncbi.nlm.nih.gov/pubmed/27003583 MRD43 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2. MIM:617061 MRD44 autosomal dominant intellectual developmental disorder 44 with microcephaly autosomal dominant mental retardation 44 autosomal dominant non-syndromic intellectual disability 44 disease_ontology DOID:0070074 autosomal dominant intellectual developmental disorder 44 DOID:0070074 An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2. url:https://www.ncbi.nlm.nih.gov/pubmed/26721934 MRD44 An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the EHMT1 gene on chromosome 9q34.3. disease_ontology DOID:0070075 obsolete Kleefstra Syndrome true DOID:0070075 An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the EHMT1 gene on chromosome 9q34.3. url:https://www.ncbi.nlm.nih.gov/pubmed/16826528 An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the KANSL1 gene on chromosome 17q21.31. chromosome 17q21.31 deletion syndrome microdeletion 17q21.31 syndrome disease_ontology DOID:0070076 obsolete Koolen-De Vries syndrome true DOID:0070076 An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of the KANSL1 gene on chromosome 17q21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/19447831 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD1 gene on chromosome 5q23-q35. MIM:181510 SCZD1 disease_ontology DOID:0070077 schizophrenia 1 DOID:0070077 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD1 gene on chromosome 5q23-q35. url:https://www.ncbi.nlm.nih.gov/pubmed/14699422 SCZD1 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21. MIM:603342 SCZD2 disease_ontology DOID:0070078 schizophrenia 2 DOID:0070078 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21. url:https://www.ncbi.nlm.nih.gov/pubmed/7490076 SCZD2 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD3 gene on chromosome 6p23. MIM:600511 SCZD3 disease_ontology DOID:0070079 schizophrenia 3 DOID:0070079 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD3 gene on chromosome 6p23. url:https://www.ncbi.nlm.nih.gov/pubmed/26814963 SCZD3 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the PRODH gene on chromosome 22q11.21. MIM:600850 SCZD4 disease_ontology DOID:0070080 schizophrenia 4 DOID:0070080 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the PRODH gene on chromosome 22q11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/12217952 SCZD4 A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26. MIM:603175 SCZD5 disease_ontology DOID:0070081 schizophrenia 5 DOID:0070081 A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26. url:https://www.ncbi.nlm.nih.gov/pubmed/15329799 SCZD5 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD6 gene on chromosome 8p21. MIM:603013 SCZD6 disease_ontology DOID:0070082 schizophrenia 6 DOID:0070082 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD6 gene on chromosome 8p21. url:https://www.ncbi.nlm.nih.gov/pubmed/9731535 SCZD6 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD7 gene on chromosome 13q32. MIM:603176 SCZD7 disease_ontology DOID:0070083 schizophrenia 7 DOID:0070083 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD7 gene on chromosome 13q32. url:https://www.ncbi.nlm.nih.gov/pubmed/9731535 SCZD7 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD8 gene on chromosome 18p. MIM:603206 SCZD8 disease_ontology DOID:0070084 schizophrenia 8 DOID:0070084 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD8 gene on chromosome 18p. url:https://www.ncbi.nlm.nih.gov/pubmed/9246509 SCZD8 A schizophrenia that has_material_basis_in a mutation of the DISC1 gene on chromosome 1q42.2. MIM:604906 SCZD9 disease_ontology DOID:0070085 schizophrenia 9 DOID:0070085 A schizophrenia that has_material_basis_in a mutation of the DISC1 gene on chromosome 1q42.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15197400 SCZD9 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD10 gene on chromosome 15q15. MIM:605419 SCZD10 disease_ontology DOID:0070086 schizophrenia 10 DOID:0070086 A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD10 gene on chromosome 15q15. url:https://www.ncbi.nlm.nih.gov/pubmed/11001582 SCZD10 A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3. MIM:608078 SCZD11 disease_ontology DOID:0070087 schizophrenia 11 DOID:0070087 A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/12929083 SCZD11 A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2. MIM:608543 SCZD12 disease_ontology DOID:0070088 schizophrenia 12 DOID:0070088 A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2. url:https://www.ncbi.nlm.nih.gov/pubmed/14750073 SCZD12 A schizophrenia that has_material_basis_in a mutation on chromosome 15q13. MIM:613025 SCZD13 disease_ontology DOID:0070089 schizophrenia 13 DOID:0070089 A schizophrenia that has_material_basis_in a mutation on chromosome 15q13. url:https://www.ncbi.nlm.nih.gov/pubmed/9012828 SCZD13 A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1. MIM:612361 SCZD14 disease_ontology DOID:0070090 schizophrenia 14 DOID:0070090 A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1. url:https://www.ncbi.nlm.nih.gov/pubmed/18677311 SCZD14 A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33. MIM:613950 SCZD15 disease_ontology DOID:0070091 schizophrenia 15 DOID:0070091 A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33. url:https://www.ncbi.nlm.nih.gov/pubmed/20385823 SCZD15 A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3. MIM:613959 SCZD16 disease_ontology DOID:0070092 schizophrenia 16 DOID:0070092 A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21346763 SCZD16 A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2. MIM:615232 Chromosome 7q36.3 Duplication Syndrome, 362-Kb SCZD18 disease_ontology DOID:0070093 schizophrenia 18 DOID:0070093 A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2. url:https://www.ncbi.nlm.nih.gov/pubmed/23341099 SCZD18 An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. MIM:203100 OCA1A Oculocutaneous Albinism, Tyrosinase-Negative disease_ontology DOID:0070094 oculocutaneous albinism type IA DOID:0070094 An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. url:https://www.ncbi.nlm.nih.gov/pubmed/8477259 OCA1A An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity. MESH:C537729 MIM:606952 Albinism, Yellow Mutant Type OCA1B disease_ontology DOID:0070095 oculocutaneous albinism type IB DOID:0070095 An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity. url:https://www.ncbi.nlm.nih.gov/pubmed/18925668 OCA1B An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13. GARD:4038 MESH:C537730 MIM:203200 OCA2 Oculocutaneous Albinism, Tyrosinase-Positive disease_ontology DOID:0070096 oculocutaneous albinism type II DOID:0070096 An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13. url:https://www.ncbi.nlm.nih.gov/pubmed/18680187 OCA2 An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23. GARD:4039 MIM:203290 OCA3 Rufous Oculocutaneous Albinism disease_ontology DOID:0070097 oculocutaneous albinism type III DOID:0070097 An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23. url:https://www.ncbi.nlm.nih.gov/pubmed/9345097 OCA3 An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2. MIM:606574 OCA4 disease_ontology DOID:0070098 oculocutaneous albinism type IV DOID:0070098 An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/14722913 OCA4 An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24. MIM:615312 OCA5 disease_ontology DOID:0070099 oculocutaneous albinism type V DOID:0070099 An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24. url:https://www.ncbi.nlm.nih.gov/pubmed/23050561 OCA5 An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3. MIM:615179 OCA7 disease_ontology DOID:0070100 oculocutaneous albinism type VII DOID:0070100 An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/23395477 OCA7 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the PTPN11 gene on chromosome 12q24.13. disease_ontology DOID:0070101 obsolete Noonan syndrome 1 true DOID:0070101 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the PTPN11 gene on chromosome 12q24.13. url:https://www.ncbi.nlm.nih.gov/pubmed/11704759 A Noonan syndrome that has_material_basis_in an autosomal recessive mutation. disease_ontology DOID:0070102 obsolete Noonan syndrome 2 true DOID:0070102 A Noonan syndrome that has_material_basis_in an autosomal recessive mutation. url:https://www.ncbi.nlm.nih.gov/pubmed/5782826 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the KRAS gene on chromosome 12p12.1. disease_ontology DOID:0070103 obsolete Noonan syndrome 3 true DOID:0070103 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the KRAS gene on chromosome 12p12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16474405 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS1 gene on chromosome 2p22.1. disease_ontology DOID:0070104 obsolete Noonan syndrome 4 true DOID:0070104 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS1 gene on chromosome 2p22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17143285 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RAF1 gene on chromosome 3p25.2. disease_ontology DOID:0070105 obsolete Noonan syndrome 5 true DOID:0070105 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RAF1 gene on chromosome 3p25.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17603483 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the NRAS gene on chromosome 1p13.2. disease_ontology DOID:0070106 obsolete Noonan syndrome 6 true DOID:0070106 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the NRAS gene on chromosome 1p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/19966803 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the BRAF gene on chromosome 7q34. disease_ontology DOID:0070107 obsolete Noonan syndrome 7 true DOID:0070107 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the BRAF gene on chromosome 7q34. url:https://www.ncbi.nlm.nih.gov/pubmed/19206169 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RIT1 gene on chromosome 1q22. disease_ontology DOID:0070108 obsolete Noonan syndrome 8 true DOID:0070108 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RIT1 gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/23791108 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS2 gene on chromosome 14q21.3. NS9 disease_ontology DOID:0070109 obsolete Noonan syndrome 9 true DOID:0070109 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the SOS2 gene on chromosome 14q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25795793 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the LZTR1 gene on chromosome 22q11.21. disease_ontology DOID:0070110 obsolete Noonan syndrome 10 true DOID:0070110 A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the LZTR1 gene on chromosome 22q11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/25795793 A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. GARD:7206 ICD10CM:E75.2 MIM:257200 disease_ontology DOID:0070111 Niemann-Pick disease type A DOID:0070111 A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. url:https://www.ncbi.nlm.nih.gov/pubmed/13696518 url:https://www.ncbi.nlm.nih.gov/pubmed/19405096 A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. GARD:10729 ICD10CM:E75.2 MIM:607616 disease_ontology DOID:0070112 Niemann-Pick disease type B DOID:0070112 A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. url:https://www.ncbi.nlm.nih.gov/pubmed/12369017 url:https://www.ncbi.nlm.nih.gov/pubmed/13696518 A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. GARD:7207 ICD10CM:E75.2 MIM:257220 NPC1 disease_ontology DOID:0070113 Niemann-Pick disease type C1 DOID:0070113 A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/11182931 NPC1 A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. GARD:3992 ICD10CM:E75.2 MIM:607625 NPC2 disease_ontology DOID:0070114 Niemann-Pick disease type C2 DOID:0070114 A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17470133 NPC2 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22. ICD10CM:Q61.9 MIM:249000 MKS1 Meckel-Gruber syndrome, type 1 disease_ontology DOID:0070115 Meckel syndrome 1 DOID:0070115 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22. url:https://www.ncbi.nlm.nih.gov/pubmed/16415886 MKS1 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. ICD10CM:Q61.9 MIM:603194 MKS2 Meckel-Gruber syndrome, type 2 disease_ontology DOID:0070116 Meckel syndrome 2 DOID:0070116 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/20512146 MKS2 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1. ICD10CM:Q61.9 MIM:607361 MKS3 Meckel-Gruber syndrome, type 3 disease_ontology DOID:0070117 Meckel syndrome 3 DOID:0070117 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16415887 MKS3 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32. ICD10CM:Q61.9 MIM:611134 MKS4 Meckel-Gruber syndrome, type 4 disease_ontology DOID:0070118 Meckel syndrome 4 DOID:0070118 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32. url:https://www.ncbi.nlm.nih.gov/pubmed/17564974 MKS4 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. ICD10CM:Q61.9 MIM:611561 MKS5 Meckel-Gruber syndrome, type 5 disease_ontology DOID:0070119 Meckel syndrome 5 DOID:0070119 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17558409 MKS5 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32. ICD10CM:Q61.9 MIM:612284 MKS6 Meckel-Gruber syndrome, type 6 disease_ontology DOID:0070120 Meckel syndrome 6 DOID:0070120 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32. url:https://www.ncbi.nlm.nih.gov/pubmed/18513680 MKS6 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1. MESH:C537756 MIM:267010 ORDO:3032 SNOMEDCT_US_2023_03_01:773737004 UMLS_CUI:C2673885 MKS7 Meckel-Gruber syndrome, type 7 disease_ontology DOID:0070121 Meckel syndrome 7 DOID:0070121 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/18371931 MKS7 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31. ICD10CM:Q61.9 MIM:613885 ORDO:90674 MKS8 Meckel-Gruber syndrome, type 8 disease_ontology DOID:0070122 Meckel syndrome 8 DOID:0070122 A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31. url:https://www.ncbi.nlm.nih.gov/pubmed/21462283 MKS8 A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. ICD10CM:E03.1 MIM:275100 CHNG4 isolated thyrotropin deficiency disease_ontology DOID:0070123 congenital nongoitrous hypothyroidism 4 DOID:0070123 A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. url:https://www.ncbi.nlm.nih.gov/pubmed/2792087 CHNG4 A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. ICD10CM:E03.1 MIM:218700 CHNG2 congenital hypothyroidism due to thyroid dysgenesis or hypoplasia disease_ontology DOID:0070124 congenital nongoitrous hypothyroidism 2 DOID:0070124 A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. url:https://www.ncbi.nlm.nih.gov/pubmed/9590296 CHNG2 A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. ICD10CM:E03.1 MIM:225250 ORDO:90673 CHNG5 disease_ontology DOID:0070125 congenital nongoitrous hypothyroidism 5 DOID:0070125 A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. url:https://www.ncbi.nlm.nih.gov/pubmed/16418214 CHNG5 A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. ICD10CM:E03.1 MIM:275200 CHNG1 TSH resistance disease_ontology DOID:0070126 congenital nongoitrous hypothyroidism 1 DOID:0070126 A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. url:https://www.ncbi.nlm.nih.gov/pubmed/8954020 CHNG1 A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1. ICD10CM:E03.1 MIM:609893 CHNG3 disease_ontology DOID:0070127 congenital nongoitrous hypothyroidism 3 DOID:0070127 A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15870119 url:https://www.ncbi.nlm.nih.gov/pubmed/8976668 CHNG3 A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1. ICD10CM:E03.1 MIM:614450 CHNG6 disease_ontology DOID:0070128 congenital nongoitrous hypothyroidism 6 DOID:0070128 A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/22168587 CHNG6 An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. ICD10CM:Q82.8 MIM:617403 ARCL2D disease_ontology DOID:0070129 autosomal recessive cutis laxa type IID DOID:0070129 An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. url:https://www.ncbi.nlm.nih.gov/pubmed/28065471 ARCL2D An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11. ICD10CM:Q82.8 MIM:123700 ADCL1 disease_ontology DOID:0070130 autosomal dominant cutis laxa 1 DOID:0070130 An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11. url:https://www.ncbi.nlm.nih.gov/pubmed/9580666 url:https://www.ncbi.nlm.nih.gov/pubmed/9873040 ADCL1 An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. ICD10CM:Q82.8 MIM:616603 ADCL3 disease_ontology DOID:0070131 autosomal dominant cutis laxa 3 DOID:0070131 An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/26320891 ADCL3 A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. ICD10CM:Q82.8 MIM:219150 ORDO:35664 ARCL3A De Barsy syndrome A disease_ontology DOID:0070132 autosomal recessive cutis laxa type IIIA DOID:0070132 A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/11092761 ARCL3A An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. ICD10CM:Q82.8 MIM:614437 ARCL1B disease_ontology DOID:0070133 autosomal recessive cutis laxa type IB DOID:0070133 An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/16685658 url:https://www.ncbi.nlm.nih.gov/pubmed/19664000 ARCL1B An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. ICD10CM:Q82.8 MIM:219200 ARCL2A disease_ontology DOID:0070134 autosomal recessive cutis laxa type IIA DOID:0070134 An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/18157129 url:https://www.ncbi.nlm.nih.gov/pubmed/19401719 ARCL2A An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. ICD10CM:Q82.8 MIM:219100 ARCL1A disease_ontology DOID:0070135 autosomal recessive cutis laxa type IA DOID:0070135 An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/12189163 ARCL1A An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32. ICD10CM:Q82.8 MIM:614434 ADCL2 disease_ontology DOID:0070136 autosomal dominant cutis laxa 2 DOID:0070136 An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/12618961 ADCL2 A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. ICD10CM:Q82.8 MIM:612940 ORDO:357064 ARCL2, progeroid type ARCL2B disease_ontology DOID:0070137 autosomal recessive cutis laxa type IIB DOID:0070137 A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19576563 ARCL2B An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. ICD10CM:Q82.8 MIM:614438 ARCL3B De Barsy syndrome B disease_ontology DOID:0070138 autosomal recessive cutis laxa type IIIB DOID:0070138 An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. url:https://www.ncbi.nlm.nih.gov/pubmed/19648921 ARCL3B A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. MESH:C567716 MIM:613177 ORDO:221145 SNOMEDCT_US_2023_03_01:784349004 UMLS_CUI:C2750804 ARCL1C autosomal recessive cutis laxa type 1C disease_ontology DOID:0070139 autosomal recessive cutis laxa type IC DOID:0070139 A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/19836010 ARCL1C An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. ICD10CM:Q82.8 MIM:617402 disease_ontology DOID:0070140 autosomal recessive cutis laxa type IIC DOID:0070140 An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. url:https://www.ncbi.nlm.nih.gov/pubmed/28065471 A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia. ICD10CM:Q82.8 ORDO:357074 ARCL2, Debre type ARCL2, classic type disease_ontology DOID:0070141 autosomal recessive cutis laxa type II classic type DOID:0070141 A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia. url:https://www.ncbi.nlm.nih.gov/pubmed/28065471 A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity. ICD10CM:Q82.8 ORDO:90348 ADCL disease_ontology DOID:0070142 autosomal dominant cutis laxa DOID:0070142 A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity. url:https://www.ncbi.nlm.nih.gov/pubmed/18348261 ADCL A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. GARD:49 MESH:C535990 ORDO:2962 SNOMEDCT_US_2023_03_01:238826008 UMLS_CUI:C0268354 De Barsy syndrome cutis laxa-corneal clouding-intellectual disability syndrome disease_ontology DOID:0070143 autosomal recessive cutis laxa type III DOID:0070143 A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. url:https://www.ncbi.nlm.nih.gov/pubmed/18388779 A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems. GARD:8480 MESH:C562628 ORDO:90439 SNOMEDCT_US_2023_03_01:254222002 UMLS_CUI:C0268351 UMLS_CUI:C0432336 autosomal recessive cutis laxa type 1 disease_ontology DOID:0070144 autosomal recessive cutis laxa type I DOID:0070144 A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems. url:https://www.ncbi.nlm.nih.gov/pubmed/19401719 A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. GARD:12328 MESH:D000699 MESH:D009477 MIM:608654 NCI:C156360 ORDO:608654 SNOMEDCT_US_2023_03_01:128206006 SNOMEDCT_US_2023_03_01:403605007 UMLS_CUI:C0002768 UMLS_CUI:C0020075 HSAN5 hereditary sensory and autonomic neuropathy type V disease_ontology DOID:0070145 hereditary sensory and autonomic neuropathy type 5 DOID:0070145 A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. url:https://www.ncbi.nlm.nih.gov/pubmed/14976160 url:https://www.ncbi.nlm.nih.gov/pubmed/77656 HSAN5 A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. GARD:3006 MESH:D009477 MIM:256800 NCI:C118633 ORDO:642 SNOMEDCT_US_2023_03_01:62985007 UMLS_CUI:C0020074 hereditary sensory neuropathy type IV insensitivity to pain, congenital, with anhidrosis disease_ontology DOID:0070146 hereditary sensory neuropathy type 4 DOID:0070146 A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. url:https://www.ncbi.nlm.nih.gov/pubmed/14272277 url:https://www.ncbi.nlm.nih.gov/pubmed/8696348 A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. MIM:614213 HSN2C hereditary sensory neuropathy type IIC disease_ontology DOID:0070147 hereditary sensory neuropathy type 2C DOID:0070147 A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/21820098 HSN2C A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22. MESH:C564296 MIM:608088 ORDO:139564 SNOMEDCT_US_2023_03_01:717825008 UMLS_CUI:C1842586 HSAN with cough and gastroesophageal reflux hereditary sensory neuropathy type IB disease_ontology DOID:0070148 hereditary sensory neuropathy type 1B DOID:0070148 A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22. url:https://www.ncbi.nlm.nih.gov/pubmed/12870133 url:https://www.ncbi.nlm.nih.gov/pubmed/16311270 A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. GARD:12723 ICD10CM:G60.8 MIM:615548 ORDO:391397 HSAN7 hereditary sensory and autonomic neuropathy type VII disease_ontology DOID:0070149 hereditary sensory and autonomic neuropathy type 7 DOID:0070149 A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. url:https://www.ncbi.nlm.nih.gov/pubmed/24036948 HSAN7 A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15. MIM:613115 HSAN2B hereditary sensory and autonomic neuropathy type IIB disease_ontology DOID:0070150 hereditary sensory and autonomic neuropathy type 2B DOID:0070150 A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15. url:https://www.ncbi.nlm.nih.gov/pubmed/19838196 url:https://www.ncbi.nlm.nih.gov/pubmed/24327336 HSAN2B A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12. ICD10CM:G60.8 MIM:614653 ORDO:314381 HSAN6 hereditary sensory and autonomic neuropathy type VI disease_ontology DOID:0070151 hereditary sensory and autonomic neuropathy type 6 DOID:0070151 A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12. url:https://www.ncbi.nlm.nih.gov/pubmed/22522446 HSAN6 A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. MIM:162400 HSAN1A hereditary sensory and autonomic neuropathy type IA disease_ontology DOID:0070152 hereditary sensory and autonomic neuropathy type 1A DOID:0070152 A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/11242114 HSAN1A A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34. MIM:616488 ORDO:478664 HSAN8 hereditary sensory and autonomic neuropathy type VIII disease_ontology DOID:0070153 hereditary sensory and autonomic neuropathy type 8 DOID:0070153 A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/26005867 HSAN8 A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13. MIM:615632 HSN1F hereditary sensory neuropathy type IF disease_ontology DOID:0070154 hereditary sensory neuropathy type 1F DOID:0070154 A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/24459106 HSN1F A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. MIM:201300 HSAN2A hereditary sensory and autonomic neuropathy type IIA disease_ontology DOID:0070155 hereditary sensory and autonomic neuropathy type 2A DOID:0070155 A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/14152533 url:https://www.ncbi.nlm.nih.gov/pubmed/15060842 HSAN2A A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q. MIM:613708 HSN1D disease_ontology DOID:0070156 hereditary sensory neuropathy type 1D DOID:0070156 A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q. url:https://www.ncbi.nlm.nih.gov/pubmed/21194679 HSN1D A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. MIM:613640 HSAN1C hereditary sensory and autonomic neuropathy type IC disease_ontology DOID:0070157 hereditary sensory and autonomic neuropathy type 1C DOID:0070157 A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. url:https://www.ncbi.nlm.nih.gov/pubmed/20920666 HSAN1C A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13. GARD:11927 ICD10CM:G60.8 MIM:614116 ORDO:456318 HSN1E hereditary sensory neuropathy type IE disease_ontology DOID:0070158 hereditary sensory neuropathy type 1E DOID:0070158 A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/21532572 HSN1E A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life. MIM:310470 disease_ontology DOID:0070159 hereditary sensory neuropathy X-linked DOID:0070159 A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life. url:https://www.ncbi.nlm.nih.gov/pubmed/3866836 A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. MIM:256860 disease_ontology DOID:0070160 atypical hereditary sensory neuropathy DOID:0070160 A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. url:https://www.ncbi.nlm.nih.gov/pubmed/191348 A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood. GARD:3976 MESH:D002607 MESH:D009477 ORDO:970 SNOMEDCT_US_2023_03_01:30508001 UMLS_CUI:C0020072 UMLS_CUI:C0270914 HSAN2 hereditary sensory and autonomic neuropathy type II disease_ontology DOID:0070161 hereditary sensory and autonomic neuropathy type 2 DOID:0070161 A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/21089229 HSAN2 A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance. GARD:6635 MESH:D009477 NCI:C170433 ORDO:36386 SNOMEDCT_US_2023_03_01:52647008 UMLS_CUI:C0020071 HSAN1 hereditary sensory and autonomic neuropathy type I disease_ontology DOID:0070162 hereditary sensory and autonomic neuropathy type 1 DOID:0070162 A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/18348718 HSAN1 A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22. MIM:617644 disease_ontology DOID:0070163 spermatogenic failure 21 DOID:0070163 A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22. url:https://www.ncbi.nlm.nih.gov/pubmed/28199965 A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the MSH4 gene on chromosome 1p31. MIM:108420 SPGF2 disease_ontology DOID:0070164 spermatogenic failure 2 DOID:0070164 A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the MSH4 gene on chromosome 1p31. url:https://www.ncbi.nlm.nih.gov/pubmed/15367911 SPGF2 A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21. MIM:617576 SPGF18 disease_ontology DOID:0070165 spermatogenic failure 18 DOID:0070165 A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/24360805 SPGF18 A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13. MIM:617593 SPGF20 disease_ontology DOID:0070166 spermatogenic failure 20 DOID:0070166 A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13. url:https://www.ncbi.nlm.nih.gov/pubmed/28552195 SPGF20 A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26. MESH:D000072660 MIM:102530 NCI:C158500 SPGF6 disease_ontology DOID:0070167 spermatogenic failure 6 DOID:0070167 A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26. url:https://www.ncbi.nlm.nih.gov/pubmed/17847006 SPGF6 A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21. MIM:606766 SPGF3 disease_ontology DOID:0070168 spermatogenic failure 3 DOID:0070168 A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/23582645 SPGF3 A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. MIM:613957 SPGF8 disease_ontology DOID:0070169 spermatogenic failure 8 DOID:0070169 A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. url:https://www.ncbi.nlm.nih.gov/pubmed/20887963 SPGF8 A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25. MIM:617592 SPGF19 disease_ontology DOID:0070170 spermatogenic failure 19 DOID:0070170 A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25. url:https://www.ncbi.nlm.nih.gov/pubmed/28552195 SPGF19 A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26. MIM:615413 SPGF12 disease_ontology DOID:0070171 spermatogenic failure 12 DOID:0070171 A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26. url:https://www.ncbi.nlm.nih.gov/pubmed/23315541 SPGF12 A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26. MIM:616950 SPGF15 disease_ontology DOID:0070172 spermatogenic failure 15 DOID:0070172 A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26. url:https://www.ncbi.nlm.nih.gov/pubmed/25899990 SPGF15 A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13. MESH:C567832 MIM:612997 SPGF7 disease_ontology DOID:0070173 spermatogenic failure 7 DOID:0070173 A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/19344877 SPGF7 A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12. MIM:617214 Male infertility due to oocyte activation failure SPGF17 disease_ontology DOID:0070174 spermatogenic failure 17 DOID:0070174 A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12. url:https://www.ncbi.nlm.nih.gov/pubmed/26721930 SPGF17 disease_ontology DOID:0070175 obsolete spermatogenic failure 9 true DOID:0070175 A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23. MIM:270960 SPGF4 disease_ontology DOID:0070176 spermatogenic failure 4 DOID:0070176 A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23. url:https://www.ncbi.nlm.nih.gov/pubmed/14643120 SPGF4 A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13. MIM:617706 SPGF22 disease_ontology DOID:0070177 spermatogenic failure 22 DOID:0070177 A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/28206990 SPGF22 A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13. MIM:614822 SPGF10 Spermatogenic failure with defective sperm annulus disease_ontology DOID:0070178 spermatogenic failure 10 DOID:0070178 A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/22275165 SPGF10 A spermatogenic failure that is characterized by male infertility due to azoospermia with sperm maturation arrest in the spermatid stage that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13. MIM:615842 SPGF14 disease_ontology DOID:0070179 One family has been reported as of 4/24/2025 spermatogenic failure 14 DOID:0070179 A spermatogenic failure that is characterized by male infertility due to azoospermia with sperm maturation arrest in the spermatid stage that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/24431330 SPGF14 A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21. MIM:615081 SPGF11 disease_ontology DOID:0070180 spermatogenic failure 11 DOID:0070180 A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21. url:https://www.ncbi.nlm.nih.gov/pubmed/17047026 SPGF11 A spermatogenic failure that is characterized by autosomal recessive inheritance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23. MIM:617707 SPGF23 disease_ontology DOID:0070181 spermatogenic failure 23 DOID:0070181 A spermatogenic failure that is characterized by autosomal recessive inheritance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23. url:https://www.ncbi.nlm.nih.gov/pubmed/28206990 SPGF23 A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11. MIM:615841 SPGF13 disease_ontology DOID:0070182 spermatogenic failure 13 DOID:0070182 A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11. url:https://www.ncbi.nlm.nih.gov/pubmed/24431330 SPGF13 A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. GARD:12385 MESH:C562903 MIM:243060 ORDO:137893 SNOMEDCT_US_2021_09_01:236806004 Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid SPGF5 infertility associated with multitailed spermatozoa and excessive DNA macrocephalic sperm head syndrome male infertility due to macrozoospermia male infertility with large-headed, multiflagellar, polyploid spermatozoa disease_ontology DOID:0070183 spermatogenic failure 5 DOID:0070183 A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/17435757 SPGF5 A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11. MIM:617187 SPGF16 acephalic spermatozoa syndrome disease_ontology DOID:0070184 spermatogenic failure 16 DOID:0070184 A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11. url:https://www.ncbi.nlm.nih.gov/pubmed/27640305 SPGF16 A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13. MIM:309120 SPGFX2 disease_ontology DOID:0070185 X-linked spermatogenic failure 2 DOID:0070185 A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13. url:https://www.ncbi.nlm.nih.gov/pubmed/25970010 SPGFX2 A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region. MIM:400042 SPGFY1 Y-linked Sertoli cell-only syndrome type I Sertoli cell-only syndrome disease_ontology DOID:0070186 Y-linked spermatogenic failure 1 DOID:0070186 A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region. url:https://www.ncbi.nlm.nih.gov/pubmed/2603934 SPGFY1 A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region. MESH:C564030 MIM:415000 SPGFY2 nonobstructive Y-linked spermatogenic failure disease_ontology DOID:0070187 Y-linked spermatogenic failure 2 DOID:0070187 A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region. url:https://www.ncbi.nlm.nih.gov/pubmed/19737515 SPGFY2 A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects. MIM:258150 SPGF1 oligochiasmatic infertility oligosynaptic infertility disease_ontology DOID:0070188 spermatogenic failure 1 DOID:0070188 A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects. url:https://www.ncbi.nlm.nih.gov/pubmed/7446525 SPGF1 A Sertoli cell-only syndrome characterized by X-linked inheritance. MIM:305700 SPGFX1 disease_ontology DOID:0070189 X-linked spermatogenic failure 1 DOID:0070189 A Sertoli cell-only syndrome characterized by X-linked inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/10507722 SPGFX1 A chronic granulomatous disease characterized by autosomal dominant inheritance. disease_ontology DOID:0070190 OMIM merged into X-linked chronic granulomatous disease[LS] obsolete autosomal dominant chronic granulomatous disease true DOID:0070190 A chronic granulomatous disease characterized by autosomal dominant inheritance. url:http://www.omim.org/entry/138990 A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. MIM:233710 CDG2 autosomal recessive chronic granulomatous disease cytochrome b-positive type II chronic granulomatous disease due to deficiency of NCF-2 deficiency of NCF2 deficiency of p67-PHOX disease_ontology DOID:0070191 autosomal recessive chronic granulomatous disease 2 DOID:0070191 A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. url:https://www.ncbi.nlm.nih.gov/pubmed/7795241 CDG2 A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. MIM:233700 CDG1 autosomal recessive chronic granulomatous disease cytochrome b-positive type I chronic granulomatous disease due to deficiency of NCF-1 deficiency of NCF1 deficiency of SOC2 deficiency of neutrophil cytosol factor 1 deficiency of p47-PHOX deficiency of soluble oxidase component II disease_ontology DOID:0070192 autosomal recessive chronic granulomatous disease 1 DOID:0070192 A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/2770793 CDG1 A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. MIM:233690 CGD due to deficiency of the alpha subunit of cytochrome b CYBA deficiency autosomal recessive chronic granulomatous disease cytochrome b-negative autosomal recessive cytochrome b-negative CGD chronic granulomatous disease due to deficiency of CYBA disease_ontology DOID:0070193 autosomal recessive chronic granulomatous disease 4 DOID:0070193 A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. url:https://www.ncbi.nlm.nih.gov/pubmed/2770793 A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. MIM:613960 CDG3 autosomal recessive chronic granulomatous disease cytochrome b-positive type III autosomal recessive cytochrome b-positive CGD type III chronic granulomatous disease due to NCF4 deficiency disease_ontology DOID:0070194 autosomal recessive chronic granulomatous disease 3 DOID:0070194 A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. url:https://www.ncbi.nlm.nih.gov/pubmed/19692703 CDG3 A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4. DOID:0070190 MIM:306400 CDGX X-linked chronic cytochrome b-negative granulomatous disease disease_ontology DOID:0070195 X-linked chronic granulomatous disease DOID:0070195 A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4. url:https://www.ncbi.nlm.nih.gov/pubmed/4039107 CDGX A distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development. MIM:160300 disease_ontology DOID:0070196 infantile-onset distal myopathy DOID:0070196 A distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development. url:https://www.ncbi.nlm.nih.gov/pubmed/5834698 A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. GARD:10769 MIM:160500 ORDO:59135 Distal myopathy type 1 Gowers disease Laing distal myopathy Laing early-onset distal myopathy MPD1 disease_ontology DOID:0070197 distal myopathy 1 DOID:0070197 A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15322983 url:https://www.ncbi.nlm.nih.gov/pubmed/7847377 MPD1 A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood. GARD:9676 MESH:C537480 MIM:PS254130 ORDO:45448 Miyoshi myopathy disease_ontology DOID:0070198 Miyoshi muscular dystrophy DOID:0070198 A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood. url:https://www.ncbi.nlm.nih.gov/pubmed/3942856 A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13. MIM:254130 MMD1 Miyoshi myopathy 1 disease_ontology DOID:0070199 Miyoshi muscular dystrophy 1 DOID:0070199 A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13. url:https://www.ncbi.nlm.nih.gov/pubmed/9731526 MMD1 A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10. MESH:C567646 MIM:613318 MMD2 Miyoshi myopathy 2 disease_ontology DOID:0070200 Miyoshi muscular dystrophy 2 DOID:0070200 A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10. url:https://www.ncbi.nlm.nih.gov/pubmed/9673985 MMD2 A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14. MESH:C567645 MIM:613319 MMD3 Miyoshi myopathy 3 disease_ontology DOID:0070201 Miyoshi muscular dystrophy 3 DOID:0070201 A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14. url:https://www.ncbi.nlm.nih.gov/pubmed/20096397 MMD3 A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. GARD:3126 MESH:D052496 MIM:151660 NCI:C165527 ORDO:2348 SNOMEDCT_US_2023_03_01:715439000 UMLS_CUI:C1720860 FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type reverse partial lipodystrophy disease_ontology DOID:0070202 familial partial lipodystrophy type 2 DOID:0070202 A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. url:https://www.ncbi.nlm.nih.gov/pubmed/10587585 url:https://www.ncbi.nlm.nih.gov/pubmed/170190 FPLD2 A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. MIM:615238 ORDO:435651 CIDEC-related FPLD FPLD5 familial partial lipodystrophy associated with CIDEC mutations disease_ontology DOID:0070203 familial partial lipodystrophy type 5 DOID:0070203 A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. url:https://www.ncbi.nlm.nih.gov/pubmed/20049731 FPLD5 A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. GARD:12600 MESH:D052496 MIM:604367 ORDO:79083 SNOMEDCT_US_2023_03_01:1197745002 UMLS_CUI:C1720861 FPLD3 PPARG-related FPLD PPARG-related familial partial lipodystrophy familial partial lipodystrophy associated with PPARG mutations disease_ontology DOID:0070204 familial partial lipodystrophy type 3 DOID:0070204 A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. url:https://www.ncbi.nlm.nih.gov/pubmed/10622252 FPLD3 A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. GARD:12601 MIM:613877 ORDO:280356 FPLD4 PLIN1-related FPLD PLIN1-related familial partial lipodystrophy familial partial lipodystrophy associated with PLIN1 mutations disease_ontology DOID:0070205 familial partial lipodystrophy type 4 DOID:0070205 A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. url:https://www.ncbi.nlm.nih.gov/pubmed/21345103 FPLD4 A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. MIM:615980 ORDO:435660 FPLD6 LIPE-related FPLD LIPE-related familial partial lipodystrophy familial partial lipodystrophy associated with LIPE mutations disease_ontology DOID:0070206 familial partial lipodystrophy type 6 DOID:0070206 A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/24848981 FPLD6 A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body. GARD:12598 MESH:D052496 MIM:608600 ORDO:79084 SNOMEDCT_US_2023_03_01:725035001 UMLS_CUI:C1720859 FPLD1 familial partial lipodystrophy Kobberling type disease_ontology DOID:0070207 familial partial lipodystrophy type 1 DOID:0070207 A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body. url:https://www.ncbi.nlm.nih.gov/pubmed/3712389 FPLD1 A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. MIM:613480 LMPH1C disease_ontology DOID:0070208 hereditary lymphedema IC DOID:0070208 A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/20537300 LMPH1C A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34. MIM:615907 LMPH1D disease_ontology DOID:0070209 hereditary lymphedema ID DOID:0070209 A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34. url:https://www.ncbi.nlm.nih.gov/pubmed/23410910 LMPH1D A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35. MIM:153100 LMPH1A disease_ontology DOID:0070210 hereditary lymphedema IA DOID:0070210 A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35. url:https://www.ncbi.nlm.nih.gov/pubmed/10835628 url:https://www.ncbi.nlm.nih.gov/pubmed/9817924 LMPH1A A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1. MIM:611944 LMPH1B disease_ontology DOID:0070211 hereditary lymphedema IB DOID:0070211 A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/18193458 LMPH1B A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. GARD:7220 ICD10CM:Q82.0 MESH:D008209 NCI:C48829 ORDO:79452 SNOMEDCT_US_2023_03_01:268355000 UMLS_CUI:C1704423 LMPH1 Milroy disease Nonne-Milroy lymphedema PCL congenital primary lymphedema hereditary lymphedema type I disease_ontology DOID:0070212 hereditary lymphedema I DOID:0070212 A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/9817924 LMPH1 PCL A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance. GARD:3324 ICD10CM:I89.0 MESH:C562467 MIM:153200 ORDO:90186 SNOMEDCT_US_2023_03_01:234098006 SNOMEDCT_US_2023_03_01:400040008 UMLS_CUI:C0238261 UMLS_CUI:C1704424 LMPH2 Meige disease Meige lymphedema late-onset lymphedema lymphedema preacox disease_ontology DOID:0070213 hereditary lymphedema II DOID:0070213 A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/6342849 LMPH2 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. GARD:9932 MESH:C538376 MIM:610021 NCI:C131839 ORDO:165991 SNOMEDCT_US_2023_03_01:715830008 UMLS_CUI:C1864902 EIHI HHF7 exercise-induced hyperinsulinemic hypoglycemia exercise-induced hyperinsulinism hyperinsulinism due to SLC16A1 deficiency hyperinsulinism due to monocarboxylate transporter 1 deficiency disease_ontology DOID:0070214 familial hyperinsulinemic hypoglycemia 7 DOID:0070214 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17701893 EIHI HHF7 A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25. GARD:2819 MIM:609975 ORDO:71212 HHF4 hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency hyperinsulinism due to SCHAD deficiency hyperinsulinism due to glutamodehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency disease_ontology DOID:0070215 familial hyperinsulinemic hypoglycemia 4 DOID:0070215 A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25. url:https://www.ncbi.nlm.nih.gov/pubmed/11489939 HHF4 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13. GARD:2818 MIM:602485 ORDO:79299 HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency disease_ontology DOID:0070216 familial hyperinsulinemic hypoglycemia 3 DOID:0070216 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11916951 url:https://www.ncbi.nlm.nih.gov/pubmed/9435328 HHF3 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3. GARD:9931 MIM:606762 ORDO:35878 HHF6 HI/HA syndrome hyperinsulinism-hyperammonemia syndrome disease_ontology DOID:0070217 familial hyperinsulinemic hypoglycemia 6 DOID:0070217 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/8769351 url:https://www.ncbi.nlm.nih.gov/pubmed/9571255 HHF6 A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1. MIM:601820 Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia disease_ontology DOID:0070218 familial hyperinsulinemic hypoglycemia 2 DOID:0070218 A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1. url:https://www.ncbi.nlm.nih.gov/pubmed/8923010 url:https://www.ncbi.nlm.nih.gov/pubmed/9356020 HHF2 A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15. MIM:256450 HHF1 disease_ontology DOID:0070219 familial hyperinsulinemic hypoglycemia 1 DOID:0070219 A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/7005072 url:https://www.ncbi.nlm.nih.gov/pubmed/7716548 url:https://www.ncbi.nlm.nih.gov/pubmed/8545179 HHF1 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. MIM:609968 ORDO:263458 HHF5 hyperinsulinemic hypoglycemia due to INSR deficiency hyperinsulinemic hypoglycemia due to insulin receptor deficiency hyperinsulinism due to INSR deficiency disease_ontology DOID:0070220 familial hyperinsulinemic hypoglycemia 5 DOID:0070220 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/15161766 HHF5 An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. MIM:PS211600 NCI:C84453 ORDO:172 SNOMEDCT_US_2023_03_01:74162007 UMLS_CUI:C0268312 Byler disease PFIC disease_ontology DOID:0070221 progressive familial intrahepatic cholestasis DOID:0070221 An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. url:https://www.ncbi.nlm.nih.gov/pubmed/15239083 url:https://www.ncbi.nlm.nih.gov/pubmed/8014759 PFIC A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. GARD:1288 MESH:C535934 MIM:601847 ORDO:79304 SNOMEDCT_US_2023_03_01:1155841005 UMLS_CUI:C3489789 BSEP deficiency PFIC2 disease_ontology DOID:0070222 progressive familial intrahepatic cholestasis 2 DOID:0070222 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/9806540 PFIC2 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. GARD:1289 MESH:C535935 MIM:602347 ORDO:79305 SNOMEDCT_US_2023_03_01:1186865008 UMLS_CUI:C1865643 MDR3 deficiency PFIC3 progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase disease_ontology DOID:0070223 progressive familial intrahepatic cholestasis 3 DOID:0070223 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. url:https://www.ncbi.nlm.nih.gov/pubmed/9419367 PFIC3 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. MIM:615878 ORDO:480483 PFIC4 TJP2 deficit disease_ontology DOID:0070224 progressive familial intrahepatic cholestasis 4 DOID:0070224 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. url:https://www.ncbi.nlm.nih.gov/pubmed/24614073 PFIC4 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. MIM:617049 ORDO:480476 NR1H4 deficiency PFIC5 disease_ontology DOID:0070225 progressive familial intrahepatic cholestasis 5 DOID:0070225 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. url:https://www.ncbi.nlm.nih.gov/pubmed/26888176 PFIC5 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. GARD:9802 MESH:C535933 MIM:211600 ORDO:79306 FIC1 deficiency PFIC1 disease_ontology DOID:0070226 progressive familial intrahepatic cholestasis 1 DOID:0070226 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. url:https://www.ncbi.nlm.nih.gov/pubmed/9500542 PFIC1 An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. GARD:9804 MESH:C535932 ORDO:69665 ICP gravidic intrahepatic cholestasis pregnancy related cholestasis recurrent intrahepatic cholestasis of pregnancy disease_ontology DOID:0070227 intrahepatic cholestasis of pregnancy DOID:0070227 An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. url:https://www.ncbi.nlm.nih.gov/pubmed/27936482 ICP An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. MIM:147480 ICP1 pregnancy related cholestasis 1 disease_ontology DOID:0070228 intrahepatic cholestasis of pregnancy 1 DOID:0070228 An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. url:https://www.ncbi.nlm.nih.gov/pubmed/15888793 ICP1 An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21. MIM:614972 ICP3 pregnancy related cholestasis 3 disease_ontology DOID:0070229 intrahepatic cholestasis of pregnancy 3 DOID:0070229 An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21. url:https://www.ncbi.nlm.nih.gov/pubmed/9419367 ICP3 An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction. GARD:12185 MIM:PS243300 NCI:C84402 ORDO:65682 SNOMEDCT_US_2021_09_01:31155007 BRIC Summerskill-Walshe-Tygstrup syndrome disease_ontology DOID:0070230 benign recurrent intrahepatic cholestasis DOID:0070230 An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction. url:https://www.ncbi.nlm.nih.gov/pubmed/23402083 BRIC A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q. GARD:10028 MIM:243300 ORDO:99960 BRIC type 1 BRIC1 Summerskill syndrome disease_ontology DOID:0070231 benign recurrent intrahepatic cholestasis 1 DOID:0070231 A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q. url:https://www.ncbi.nlm.nih.gov/pubmed/9500542 BRIC1 A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. GARD:10029 MESH:C535934 MIM:605479 ORDO:99961 BRIC type 2 BRIC2 disease_ontology DOID:0070232 benign recurrent intrahepatic cholestasis 2 DOID:0070232 A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/15300568 BRIC2 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. MIM:614816 Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations LDS4 disease_ontology DOID:0070233 Loeys-Dietz syndrome 4 DOID:0070233 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. url:https://www.ncbi.nlm.nih.gov/pubmed/22772368 LDS4 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. MIM:610168 AAT3 LDS2 Marfan syndrome type II familial throacic aortic aneurysm 3 disease_ontology DOID:0070234 Loeys-Dietz syndrome 2 DOID:0070234 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. url:https://www.ncbi.nlm.nih.gov/pubmed/15235604 url:https://www.ncbi.nlm.nih.gov/pubmed/15731757 AAT3 LDS2 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. MIM:609192 AAT5 Furlong syndrome LDS1 familial throacic aortic aneurysm 5 disease_ontology DOID:0070235 Loeys-Dietz syndrome 1 DOID:0070235 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/15731757 AAT5 LDS1 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. MIM:615582 LDS5 RNHF Reinhoff syndrome disease_ontology DOID:0070236 Loeys-Dietz syndrome 5 DOID:0070236 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. url:https://www.ncbi.nlm.nih.gov/pubmed/23824657 url:https://www.ncbi.nlm.nih.gov/pubmed/25835445 LDS5 RNHF A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. MIM:613795 LDS1C LDS3 Loeys-Dietz syndrome type 1C Loeys-Dietz syndrome with osteoarthritis aneurysms-osteoarthritis syndrome disease_ontology DOID:0070237 Loeys-Dietz syndrome 3 DOID:0070237 A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. url:https://www.ncbi.nlm.nih.gov/pubmed/21217753 LDS1C LDS3 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23. MIM:607426 COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1 disease_ontology DOID:0070238 primary coenzyme Q10 deficiency 1 DOID:0070238 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23. url:https://www.ncbi.nlm.nih.gov/pubmed/19375058 COQ10D1 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. MIM:614651 ORDO:254898 COQ10D2 coenzyme Q10 deficiency, primary, 2 deafness-encephaloneuropathy-obesity-valvulopathy syndrome hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome disease_ontology DOID:0070239 primary coenzyme Q10 deficiency 2 DOID:0070239 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17332895 COQ10D2 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21. MIM:614652 COQ10D3 coenzyme Q10 deficiency, primary, 3 disease_ontology DOID:0070240 primary coenzyme Q10 deficiency 3 DOID:0070240 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21. url:https://www.ncbi.nlm.nih.gov/pubmed/17186472 COQ10D3 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13. GARD:10294 MIM:612016 ORDO:139485 COQ10D4 SCAR9 coenzyme Q10 deficiency, primary, 4 spinocerebellar ataxia, autosomal recessive 9 disease_ontology DOID:0070241 primary coenzyme Q10 deficiency 4 DOID:0070241 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13. url:https://www.ncbi.nlm.nih.gov/pubmed/18319072 COQ10D4 SCAR9 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. MIM:614654 ORDO:319678 COQ10D5 coenzyme Q10 deficiency, primary, 5 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome disease_ontology DOID:0070242 primary coenzyme Q10 deficiency 5 DOID:0070242 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. url:https://www.ncbi.nlm.nih.gov/pubmed/19375058 COQ10D5 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. MIM:614650 ORDO:280406 COQ10D6 coenzyme Q10 deficiency, primary, 6 familial steroid-resistant nephrotic syndrome with sensorineural deafness disease_ontology DOID:0070243 primary coenzyme Q10 deficiency 6 DOID:0070243 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21540551 COQ10D6 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. MIM:616276 ORDO:457185 COQ10D7 COQ4-related neonatal encephalomyopathy coenzyme Q10 deficiency, primary, 7 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome disease_ontology DOID:0070244 primary coenzyme Q10 deficiency 7 DOID:0070244 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. url:https://www.ncbi.nlm.nih.gov/pubmed/25658047 COQ10D7 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3. MIM:616733 COQ10D8 coenzyme Q10 deficiency, primary, 8 disease_ontology DOID:0070245 primary coenzyme Q10 deficiency 8 DOID:0070245 A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/26084283 COQ10D8 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. MIM:310300 EDMD1 EMD1 Emery-Dreifuss muscular dystrophy 1, X-linked humeroperoneal neuromuscular disease muscular dystrophy, tardive, Dreifuss-Emery type, with contractures scapuloperoneal syndrome, X-linked disease_ontology DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 DOID:0070246 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/8042665 EDMD1 EMD1 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. ICD10CM:G71.0 MIM:181350 ORDO:264 EDMD2 EMD2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant Hauptmann-Thannhauser muscular dystrophy autosomal dominant limb-girdle muscular dystrophy type 1B muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant scapuloilioperoneal atrophy with cardiopathy disease_ontology DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 DOID:0070247 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10080180 url:https://www.ncbi.nlm.nih.gov/pubmed/10814726 url:https://www.ncbi.nlm.nih.gov/pubmed/?term=30055862 EDMD2 EMD2 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. MIM:616516 EDMD3 Emery-Dreifuss muscular dystrophy 3, autosomal recessive disease_ontology DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 DOID:0070248 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10739764 EDMD3 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. MIM:612998 EDMD4 Emery-Dreifuss muscular dystrophy 4 with variable features Emery-Dreifuss muscular dystrophy 4, autosomal dominant disease_ontology DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 DOID:0070249 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17761684 EDMD4 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. MIM:612999 EDMD5 Emery-Dreifuss muscular dystrophy 5, autosomal dominant disease_ontology DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 DOID:0070250 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17761684 EDMD5 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3. MIM:300696 EDMD6 Emery-Dreifuss muscular dystrophy 6, X-linked XMPMA myopathy, X-linked, with postural muscle atrophy disease_ontology DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 DOID:0070251 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3. url:https://www.ncbi.nlm.nih.gov/pubmed/18179888 EDMD6 XMPMA An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. MIM:614302 EDMD7 Emery-Dreifuss muscular dystrophy 7, autosomal dominant disease_ontology DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 DOID:0070252 An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/21391237 EDMD7 A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3. GARD:9828 MESH:C535752 MIM:212066 ORDO:79329 SNOMEDCT_US_2023_03_01:724142005 UMLS_CUI:C2931008 Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth disease_ontology DOID:0070253 congenital disorder of glycosylation type IIa DOID:0070253 A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/8127054 CDG IIa CDG2A CDGIIa CDGS2 A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1. GARD:10767 MESH:C565264 MIM:606056 ORDO:79330 SNOMEDCT_US_2023_03_01:725028009 UMLS_CUI:C1853736 CDG IIb CDG2B CDGIIb glucosidase I deficiency disease_ontology DOID:0070254 congenital disorder of glycosylation type IIb DOID:0070254 A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/10788335 CDG IIb CDG2B CDGIIb A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. GARD:4634 MESH:C535755 MIM:266265 NCI:C4690 ORDO:99843 SNOMEDCT_US_2023_03_01:234583001 UMLS_CUI:C0398739 CDG IIc CDG2C CDGIIc Rambam-Hasharon syndrome disease_ontology DOID:0070255 congenital disorder of glycosylation type IIc DOID:0070255 A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10590041 CDG IIc CDG2C CDGIIc A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1. GARD:9841 MESH:C535753 MIM:607091 ORDO:79332 SNOMEDCT_US_2023_03_01:725587007 UMLS_CUI:C2931009 CDG IId CDG2D CDGIId disease_ontology DOID:0070256 congenital disorder of glycosylation type IId DOID:0070256 A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11901181 CDG IId CDG2D CDGIId A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. GARD:9842 MESH:C535754 MIM:608779 ORDO:79333 SNOMEDCT_US_2023_03_01:717773005 UMLS_CUI:C2931010 CDG IIe CDG syndrome type IIe CDG2E CDGIIe COG7-CDG Carbohydrate deficient glycoprotein syndrome type IIe disease_ontology DOID:0070257 congenital disorder of glycosylation type IIe DOID:0070257 A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15107842 CDG IIe CDG2E CDGIIe COG7-CDG A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. GARD:12409 MESH:C567040 MIM:603585 ORDO:238459 SNOMEDCT_US_2023_03_01:723624008 UMLS_CUI:C1970344 CDG IIf CDG2F CDGIIf CMP-sialic acid transporter deficiency Carbohydrate deficient glycoprotein syndrome type IIf SLC35A1-CDG disease_ontology DOID:0070258 congenital disorder of glycosylation type IIf DOID:0070258 A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. url:https://www.ncbi.nlm.nih.gov/pubmed/11157507 CDG IIf CDG2F CDGIIf SLC35A1-CDG A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1. GARD:10226 MESH:C535756 MIM:611209 ORDO:263508 SNOMEDCT_US_2023_03_01:718750004 UMLS_CUI:C2931011 CDG IIg CDG2G CDGII/COG1 cerebrocostomandibular-like syndrome CDGIIg Carbohydrate deficient glycoprotein syndrome type IIg disease_ontology DOID:0070259 congenital disorder of glycosylation type IIg DOID:0070259 A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16537452 CDG IIg CDG2G CDGIIg A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1. GARD:12411 MESH:C566987 MIM:611182 ORDO:95428 SNOMEDCT_US_2023_03_01:717774004 UMLS_CUI:C1970021 CDG IIh CDG2H CDGIIh COG8-CDG Carbohydrate deficient glycoprotein syndrome type IIh Congenital disorder of glycosylation type 2h disease_ontology DOID:0070260 congenital disorder of glycosylation type IIh DOID:0070260 A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17220172 CDG IIh CDG2H CDGIIh COG8-CDG A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. GARD:12348 MIM:613612 ORDO:263487 CDG IIi CDG syndrome type IIi CDG2I CDGIIi COG5-CDG Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type 2i disease_ontology DOID:0070261 congenital disorder of glycosylation type IIi DOID:0070261 A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19690088 CDG IIi CDG2I CDGIIi COG5-CDG A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1. GARD:12412 MIM:613489 ORDO:263501 CDG IIj CDG syndrome type IIj CDG2J CDGIIj COG4-CDG Carbohydrate deficient glycoprotein syndrome type IIj Congenital disorder of glycosylation type 2j disease_ontology DOID:0070262 congenital disorder of glycosylation type IIj DOID:0070262 A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/19494034 CDG IIj CDG2J CDGIIj COG4-CDG A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12. GARD:12413 MIM:614727 ORDO:314667 CDG IIk CDG syndrome type IIk CDG2K CDGIIk Carbohydrate deficient glycoprotein syndrome type IIk Congenital disorder of glycosylation type 2k TMEM165-CDG disease_ontology DOID:0070263 congenital disorder of glycosylation type IIk DOID:0070263 A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12. url:https://www.ncbi.nlm.nih.gov/pubmed/22683087 CDG IIk CDG2K CDGIIk TMEM165-CDG A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11. GARD:10944 MIM:614576 ORDO:464443 CDG IIl CDG syndrome type IIL CDG2L CDGIIl COG6-CGD Congenital disorder of glycosylation type 2l disease_ontology DOID:0070264 congenital disorder of glycosylation type IIl DOID:0070264 A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11. url:https://www.ncbi.nlm.nih.gov/pubmed/20605848 CDG IIl CDG2L CDGIIl COG6-CGD A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. DOID:0080469 GARD:12403 MIM:300896 ORDO:356961 CDG IIm CDGIIm DEE22 EIEE22 SLC35A2-CDG congenital disorder of glycosylation type 2m developmental and epileptic encephalopathy 22 epileptic encephalopathy, early infantile, 22 disease_ontology DOID:0070265 congenital disorder of glycosylation type IIm DOID:0070265 A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/23561849 CDG IIm CDGIIm DEE22 EIEE22 SLC35A2-CDG A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24. MIM:616721 ORDO:468699 CDG IIn CDG syndrome type IIn CDG2N CDGIIn Carbohydrate deficient glycoprotein syndrome type IIn Congenital disorder of glycosylation type 2n SLC39A8-CDG disease_ontology DOID:0070266 congenital disorder of glycosylation type IIn DOID:0070266 A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24. url:https://www.ncbi.nlm.nih.gov/pubmed/26637978 CDG IIn CDG2N CDGIIn SLC39A8-CDG A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1. MIM:616828 ORDO:468684 CCDC115-CDG CDG IIo CDG syndrome type IIo CDG2O CDGIIo Carbohydrate deficient glycoprotein syndrome type IIo Congenital disorder of glycosylation type 2o disease_ontology DOID:0070267 congenital disorder of glycosylation type IIo DOID:0070267 A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/26833332 CCDC115-CDG CDG IIo CDG2O CDGIIo A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2. MIM:616829 ORDO:466703 CDG IIp CDG syndrome type IIp CDG2P CDGIIp Carbohydrate deficient glycoprotein syndrome type IIp Congenital disorder of glycosylation type 2p TMEM199-CDG disease_ontology DOID:0070268 congenital disorder of glycosylation type IIp DOID:0070268 A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/26833330 CDG IIp CDG2P CDGIIp TMEM199-CDG A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2. MIM:617395 ORDO:435934 CDG IIq CDG2Q CDGIIq COG2-CDG COG2-related congenital disorder of glycosylation disease_ontology DOID:0070269 congenital disorder of glycosylation type IIq DOID:0070269 A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2. url:https://www.ncbi.nlm.nih.gov/pubmed/24784932 CDG IIq CDG2Q CDGIIq COG2-CDG A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM. MIM:613244 HNPCC8 disease_ontology DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 DOID:0070270 A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM. url:https://www.ncbi.nlm.nih.gov/pubmed/19098912 HNPCC8 A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16. MIM:120435 NCI:C6725 UMLS_CUI:C2936783 COCA1 FCC1 HNPCC1 familial nonpolyposis colon cancer type 1 hereditary nonpolyposis colorectal cancer type 1 disease_ontology DOID:0070271 Lynch syndrome 1 MIM:120435 NCI:C6725 UMLS_CUI:C2936783 DOID:0070271 A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16. url:https://www.ncbi.nlm.nih.gov/pubmed/8261515 url:https://www.ncbi.nlm.nih.gov/pubmed/8574961 COCA1 FCC1 HNPCC1 A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16. MIM:614350 HNPCC5 disease_ontology DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 DOID:0070272 A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16. url:https://www.ncbi.nlm.nih.gov/pubmed/9354786 HNPCC5 A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22. MIM:614331 HNPCC6 disease_ontology DOID:0070273 hereditary nonpolyposis colorectal cancer type 6 DOID:0070273 A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22. url:https://www.ncbi.nlm.nih.gov/pubmed/9590282 HNPCC6 A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2. MIM:609310 COCA2 FCC2 HNPCC2 familial nonpolyposis colon cancer type 2 disease_ontology DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 DOID:0070274 A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/8128251 COCA2 FCC2 HNPCC2 A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22. MIM:614337 HNPCC4 disease_ontology DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 DOID:0070275 A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22. url:https://www.ncbi.nlm.nih.gov/pubmed/8072530 HNPCC4 A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3. MIM:614385 HNPCC7 disease_ontology DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 DOID:0070276 A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/12702580 HNPCC7 A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34. MIM:616486 MCPH15 NEDMISBA neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities disease_ontology DOID:0070277 primary autosomal recessive microcephaly 15 DOID:0070277 A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34. url:https://pubmed.ncbi.nlm.nih.gov/30043326/ url:https://www.ncbi.nlm.nih.gov/pubmed/26005868 MCPH15 NEDMISBA A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33. MIM:612703 MCPH7 disease_ontology DOID:0070278 primary autosomal recessive microcephaly 7 DOID:0070278 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33. url:https://www.ncbi.nlm.nih.gov/pubmed/19215732 MCPH7 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21. MIM:616402 MCPH14 disease_ontology DOID:0070279 primary autosomal recessive microcephaly 14 DOID:0070279 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21. url:https://www.ncbi.nlm.nih.gov/pubmed/24951542 MCPH14 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31. MIM:608716 MCPH5 disease_ontology DOID:0070280 primary autosomal recessive microcephaly 5 DOID:0070280 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31. url:https://www.ncbi.nlm.nih.gov/pubmed/12355089 MCPH5 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23. MIM:617800 MCPH19 disease_ontology DOID:0070281 primary autosomal recessive microcephaly 19 DOID:0070281 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23. url:https://www.ncbi.nlm.nih.gov/pubmed/29036432 MCPH19 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q. MIM:614673 MCPH8 disease_ontology DOID:0070282 primary autosomal recessive microcephaly 8 DOID:0070282 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q. url:https://www.ncbi.nlm.nih.gov/pubmed/22521416 MCPH8 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24. MIM:616051 MCPH13 disease_ontology DOID:0070283 primary autosomal recessive microcephaly 13 DOID:0070283 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24. url:https://www.ncbi.nlm.nih.gov/pubmed/24748105 MCPH13 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21. MIM:616080 MCPH12 disease_ontology DOID:0070284 primary autosomal recessive microcephaly 12 DOID:0070284 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21. url:https://www.ncbi.nlm.nih.gov/pubmed/23918663 MCPH12 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23. MIM:251200 MCPH1 disease_ontology DOID:0070285 primary autosomal recessive microcephaly 1 DOID:0070285 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23. url:https://www.ncbi.nlm.nih.gov/pubmed/12046007 MCPH1 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33. MIM:604804 MCPH3 disease_ontology DOID:0070286 primary autosomal recessive microcephaly 3 DOID:0070286 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33. url:https://www.ncbi.nlm.nih.gov/pubmed/15793586 MCPH3 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13. MIM:615414 MCPH11 disease_ontology DOID:0070287 primary autosomal recessive microcephaly 11 DOID:0070287 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/23418308 MCPH11 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24. MIM:617090 MCPH17 disease_ontology DOID:0070288 primary autosomal recessive microcephaly 17 DOID:0070288 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/27453578 MCPH17 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24. MIM:616681 MCPH16 disease_ontology DOID:0070289 primary autosomal recessive microcephaly 16 DOID:0070289 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/25259927 MCPH16 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12. MIM:608393 MCPH6 disease_ontology DOID:0070290 primary autosomal recessive microcephaly 6 DOID:0070290 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12. url:https://www.ncbi.nlm.nih.gov/pubmed/15793586 MCPH6 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15. MIM:604321 MCPH4 disease_ontology DOID:0070291 primary autosomal recessive microcephaly 4 DOID:0070291 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15. url:https://www.ncbi.nlm.nih.gov/pubmed/22983954 MCPH4 A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. MIM:614852 MCPH9 disease_ontology DOID:0070292 primary autosomal recessive microcephaly 9 DOID:0070292 A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. url:https://pubmed.ncbi.nlm.nih.gov/15806441/ url:https://www.ncbi.nlm.nih.gov/pubmed/20598275 MCPH9 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13. MIM:604317 MCPH2 disease_ontology DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations DOID:0070293 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/20890279 MCPH2 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13. MIM:615095 MCPH10 disease_ontology DOID:0070294 primary autosomal recessive microcephaly 10 DOID:0070294 A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/23178126 MCPH10 A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21. MIM:617520 MCPH18 disease_ontology DOID:0070295 primary autosomal dominant microcephaly 18 DOID:0070295 A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21. url:https://www.ncbi.nlm.nih.gov/pubmed/27008544 MCPH18 A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation. GARD:12117 MIM:PS251200 ORDO:2512 MCPH disease_ontology DOID:0070296 primary autosomal recessive microcephaly DOID:0070296 A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation. url:https://www.ncbi.nlm.nih.gov/pubmed/15806441 url:https://www.ncbi.nlm.nih.gov/pubmed/28912110 MCPH A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation. MIM:PS251200 true microcephaly disease_ontology DOID:0070297 primary microcephaly DOID:0070297 A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation. url:https://www.ncbi.nlm.nih.gov/pubmed/28912110 A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34. MIM:600204 EDM2 disease_ontology DOID:0070298 multiple epiphyseal dysplasia 2 DOID:0070298 A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34. url:https://www.ncbi.nlm.nih.gov/pubmed/8528240 EDM2 A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. GARD:9794 MESH:C535505 MIM:607078 ORDO:93311 SNOMEDCT_US_2023_03_01:715674008 UMLS_CUI:C1846843 BHMED EDM5 bilateral hereditary microepiphyseal dysplasia multiple epiphyseal dysplasia MATN3-related disease_ontology DOID:0070299 multiple epiphyseal dysplasia 5 DOID:0070299 A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. url:https://www.ncbi.nlm.nih.gov/pubmed/11479597 BHMED EDM5 A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. GARD:9793 MESH:C535504 MIM:226900 ORDO:93307 SNOMEDCT_US_2023_03_01:715672007 UMLS_CUI:C1847593 EDM4 MED4 Polyepiphyseal dysplasia type 4 multiple epiphyseal dysplasia with bilateral patellae multiple epiphyseal dysplasia with clubfoot rMED disease_ontology DOID:0070300 multiple epiphyseal dysplasia 4 DOID:0070300 A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. url:https://www.ncbi.nlm.nih.gov/pubmed/10465113 EDM4 MED4 rMED A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13. MIM:614135 EDM6 disease_ontology DOID:0070301 multiple epiphyseal dysplasia 6 DOID:0070301 A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11565064 EDM6 A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25. MIM:617719 EDM7 disease_ontology DOID:0070302 multiple epiphyseal dysplasia 7 DOID:0070302 A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25. url:https://www.ncbi.nlm.nih.gov/pubmed/28742282 EDM7 A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. GARD:2180 MESH:C535501 MIM:132400 ORDO:93308 SNOMEDCT_US_2023_03_01:715673002 UMLS_CUI:C1838280 EDM1 MED1 multiple epiphyseal dysplasia COMP-related polyepiphyseal dysplasia type 1 disease_ontology DOID:0070303 multiple epiphyseal dysplasia 1 DOID:0070303 A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/7670471 url:https://www.ncbi.nlm.nih.gov/pubmed/7670472 EDM1 MED1 A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. MIM:600969 EDM3 multiple epiphyseal dysplasia 3 with or without myopathy disease_ontology DOID:0070304 multiple epiphyseal dysplasia 3 DOID:0070304 A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/10090888 EDM3 A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3). ORDO:166002 disease_ontology DOID:0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly DOID:0070305 A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3). url:https://www.ncbi.nlm.nih.gov/pubmed/10090888 url:https://www.ncbi.nlm.nih.gov/pubmed/11891674 A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies. MESH:D000080942 post cardiac syndrome disease_ontology DOID:0070306 post-cardiac arrest syndrome DOID:0070306 A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies. url:https://www.ncbi.nlm.nih.gov/pubmed/20395899 url:https://www.ncbi.nlm.nih.gov/pubmed/?term=15365608 url:https://www.ncbi.nlm.nih.gov/pubmed/?term=18963350 url:https://www.ncbi.nlm.nih.gov/pubmed/?term=29055751 A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects. MESH:C564332 MIM:607812 ORDO:50814 SNOMEDCT_US_2023_03_01:725100001 UMLS_CUI:C1843042 Boyadjiev-Jabs Syndrome cranio-lenticulo-sutural dysplasia, CLSD disease_ontology DOID:0070307 craniolenticulosutural dysplasia DOID:0070307 A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects. url:https://en.wikipedia.org/wiki/Cranio%E2%80%93lenticulo%E2%80%93sutural_dysplasia url:https://www.ncbi.nlm.nih.gov/pubmed/?term=16980979 url:https://www.ncbi.nlm.nih.gov/pubmed/?term=29161034 A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise. apujar MESH:C535686 MIM:600332 disease_ontology DOID:0070308 rippling muscle disease 1 DOID:0070308 A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3697883/ An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. MESH:D004832 disease_ontology DOID:0070309 absence epilepsy DOID:0070309 An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. url:https://www.ncbi.nlm.nih.gov/articles/PMC3697883/ url:https://www.ncbi.nlm.nih.gov/pubmed/15800200 A nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity. drug induced hearing loss disease_ontology DOID:0070310 drug-induced hearing loss DOID:0070310 A nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity. url:https://www.ncbi.nlm.nih.gov/pubmed/?term=20301595 url:https://www.ncbi.nlm.nih.gov/pubmed/?term=25629145 url:https://www.ncbi.nlm.nih.gov/pubmed/?term=29471610 A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility. OAT oligoasthenoteratospermia disease_ontology DOID:0070311 oligoasthenoteratozoospermia DOID:0070311 A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility. url:https://en.wiktionary.org/wiki/oligoasthenoteratozoospermia url:https://www.ncbi.nlm.nih.gov/pubmed/23628110 url:https://www.ncbi.nlm.nih.gov/pubmed/25781171 OAT A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip or palate, and variable developmental delay or intellectual disability. disease_ontology DOID:0070312 obsolete Peters-Plus Syndrome true DOID:0070312 A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip or palate, and variable developmental delay or intellectual disability. url:https://www.ncbi.nlm.nih.gov/pubmed/25544610 A nutritional deficiency disease that is characterized by low levels of thiamine. NCI:C34418 SNOMEDCT_US_2021_09_01:399357009 disease_ontology DOID:0070313 thiamine deficiency disease DOID:0070313 A nutritional deficiency disease that is characterized by low levels of thiamine. url:https://en.wikipedia.org/wiki/Thiamine_deficiency A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction. apujar NCI:C120902 SNOMEDCT_US_2023_03_01:86249007 UMLS_CUI:C0149939 CON congenital obstructive nephropathy disease_ontology DOID:0070314 obstructive nephropathy DOID:0070314 A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction. url:https://en.wikipedia.org/wiki/Obstructive_uropathy url:https://www.ncbi.nlm.nih.gov/pubmed/24023768 url:https://www.ncbi.nlm.nih.gov/pubmed/25402279 url:https://www.ncbi.nlm.nih.gov/pubmed/26667236 CON A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect. apujar GARD:2922 ICD10CM:Q22.6 NCI:C99053 SNOMEDCT_US_2023_03_01:204348000 UMLS_CUI:C0344963 Right hypoplastic heart syndrome disease_ontology DOID:0070315 hypoplastic right heart syndrome DOID:0070315 A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect. url:https://www.ncbi.nlm.nih.gov/pubmed/24932961 url:https://www.ncbi.nlm.nih.gov/pubmed/28009100 A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. apujar MIM:615923 ORDO:329191 ECDM tall stature-scoliosis-macrodactyly of the great toes syndrome tall stature-scoliosis-macrodactyly of the halluces syndrome disease_ontology DOID:0070316 Miura type epiphyseal chondrodysplasia DOID:0070316 A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. url:https://www.ncbi.nlm.nih.gov/pubmed/24057292 url:https://www.ncbi.nlm.nih.gov/pubmed/24259409 ECDM A beriberi that is located_in the cardiovascular system and has_symptom increased heart rate, swelling of lower legs, and shortness of breath. GARD:9948 ICD10CM:E51.12 SNOMEDCT_US_2021_09_01:67360000 disease_ontology DOID:0070317 wet beriberi DOID:0070317 A beriberi that is located_in the cardiovascular system and has_symptom increased heart rate, swelling of lower legs, and shortness of breath. url:https://en.wikipedia.org/wiki/Thiamine_deficiency url:https://medlineplus.gov/ency/article/000339.htm url:https://rarediseases.info.nih.gov/diseases/9948/beriberi A beriberi that is located_in the nervous system and has_symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting. GARD:9948 ICD10CM:E51.11 SNOMEDCT_US_2021_09_01:71021002 disease_ontology DOID:0070318 dry beriberi DOID:0070318 A beriberi that is located_in the nervous system and has_symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting. url:https://en.wikipedia.org/wiki/Thiamine_deficiency url:https://medlineplus.gov/ency/article/000339.htm url:https://rarediseases.info.nih.gov/diseases/9948/beriberi A miliaria that is characterized by pustules resulting from inflammation and bacterial infection. SNOMEDCT_US_2021_09_01:26988005 disease_ontology DOID:0070319 miliaria pustulosa DOID:0070319 A miliaria that is characterized by pustules resulting from inflammation and bacterial infection. url:http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html url:https://en.wikipedia.org/wiki/Miliaria url:https://www.ncbi.nlm.nih.gov/books/NBK537176/ A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash. ICD10CM:L74.2 SNOMEDCT_US_2020_03_01:47317002 disease_ontology DOID:0070320 miliaria profunda DOID:0070320 A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash. url:http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html url:https://en.wikipedia.org/wiki/Miliaria url:https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html url:https://www.ncbi.nlm.nih.gov/books/NBK537176/ A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located_in the stratum corneum. ICD10CM:L74.1 SNOMEDCT_US_2021_09_01:44279002 disease_ontology DOID:0070321 miliaria crystallina DOID:0070321 A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located_in the stratum corneum. url:http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html url:https://en.wikipedia.org/wiki/Miliaria url:https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html url:https://www.ncbi.nlm.nih.gov/books/NBK537176/ A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma. GARD:9331 NCI:C7955 ORDO:33402 pediatric hepatocellular carcinoma disease_ontology DOID:0070322 childhood hepatocellular carcinoma DOID:0070322 A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma. url:https://www.ncbi.nlm.nih.gov/pubmed/17714939 url:https://www.ncbi.nlm.nih.gov/pubmed/28144610 url:https://www.ncbi.nlm.nih.gov/pubmed/30254403 A childhood acute myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. ICDO:9861/3 NCI:C9160 childhood acute myeloid leukaemia paediatric acute myeloid leukaemia pediatric acute myeloid leukemia disease_ontology DOID:0070323 childhood acute myeloid leukemia DOID:0070323 A childhood acute myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. url:http://www.danafarberbostonchildrens.org/conditions/leukemia-and-lymphoma/acute-myelogenous-leukemia.aspx url:https://en.wikipedia.org/wiki/Acute_myeloid_leukemia url:https://www.cancer.gov/types/leukemia/patient/child-aml-treatment-pdq A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood. ICDO:9724/3 ORDO:364033 SNOMEDCT_US_2023_03_01:721311006 UMLS_CUI:C4303422 EBV-positive T-cell lymphoproliferative disorder of childhood systemic EBV-positive T-cell lymphoma of childhood disease_ontology DOID:0070324 systemic Epstein-Barr virus positive T-cell lymphoma of childhood DOID:0070324 A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood. url:https://en.wikipedia.org/wiki/Epstein-Barr_virus-associated_lymphoproliferative_diseases url:https://www.ncbi.nlm.nih.gov/pubmed/30931288 An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults. GARD:9368 NCI:C118822 malignant pediatric adrenal gland pheochromocytoma disease_ontology DOID:0070325 malignant childhood adrenal gland pheochromocytoma DOID:0070325 An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults. url:https://www.ncbi.nlm.nih.gov/pubmed/28324046 url:https://www.ncbi.nlm.nih.gov/pubmed/28752085 A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia. NCI:C136825 atypical spitz nevus disease_ontology DOID:0070326 spitzoid melanoma DOID:0070326 A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377413/ url:https://www.ncbi.nlm.nih.gov/pubmed/25666674 url:https://www.ncbi.nlm.nih.gov/pubmed/25834363 A skin melanoma that arises from a congenital melanocytic nevus. GARD:2469 ICDO:8761/3 NCI:C48613 UMLS_CUI:C1711221 Malignant melanoma in congenital melanocytic nevus melanocytic nevi disease_ontology DOID:0070327 melanoma in congenital melanocytic nevus DOID:0070327 A skin melanoma that arises from a congenital melanocytic nevus. url:https://www.ncbi.nlm.nih.gov/pubmed/27517357 url:https://www.ncbi.nlm.nih.gov/pubmed/28078671 A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation. NCI:C7956 ORDO:210159 SNOMEDCT_US_2023_03_01:1197204009 UMLS_CUI:C0279607 adult hepatoma adult primary hepatocellular carcinoma disease_ontology DOID:0070328 adult hepatocellular carcinoma DOID:0070328 A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation. url:https://www.cancer.gov/types/liver/patient/about-adult-liver-cancer-pdq url:https://www.ncbi.nlm.nih.gov/pubmed/25979220 url:https://www.ncbi.nlm.nih.gov/pubmed/28761617 url:https://www.ncbi.nlm.nih.gov/pubmed/30254403 A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs. GARD:13643 MIM:PS603041 ORDO:35698 mtDNA depletion syndrome disease_ontology DOID:0070329 mitochondrial DNA depletion syndrome DOID:0070329 A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs. url:https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/28215579 url:https://www.ncbi.nlm.nih.gov/pubmed/29344903 url:https://www.ncbi.nlm.nih.gov/pubmed/29950321 A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of energy production resulting from mitochondria impairment. GARD:12632 MESH:C565304 MIM:PS605711 ORDO:289573 fatal multiple mitochondrial dysfunction syndrome disease_ontology DOID:0070330 multiple mitochondrial dysfunctions syndrome DOID:0070330 A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of energy production resulting from mitochondria impairment. url:https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/24462711 url:https://www.ncbi.nlm.nih.gov/pubmed/28161430 A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22. MESH:C536350 MIM:612075 mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related disease_ontology DOID:0070331 mitochondrial DNA depletion syndrome 8b DOID:0070331 A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22. url:https://www.ncbi.nlm.nih.gov/pubmed/28215579 url:https://www.ncbi.nlm.nih.gov/pubmed/30373120 A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB gene on chromosome 7q22. MIM:617954 disease_ontology DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 DOID:0070332 A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB gene on chromosome 7q22. url:https://www.ncbi.nlm.nih.gov/pubmed/29576218 A peripheral T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule. disease_ontology DOID:0070333 breast implant-associated anaplastic large cell lymphoma DOID:0070333 A peripheral T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule. url:https://www.fda.gov/medical-devices/breast-implants/questions-and-answers-about-breast-implant-associated-anaplastic-large-cell-lymphoma-bia-alcl url:https://www.ncbi.nlm.nih.gov/pubmed/31166611 url:https://www.ncbi.nlm.nih.gov/pubmed/31642879 A food allergy triggered by a vegetable food product. disease_ontology DOID:0070334 vegetable allergy DOID:0070334 A food allergy triggered by a vegetable food product. url:https://farrp.unl.edu/informallvegetables A vegetable allergy triggered by celery (Apium graveolens). disease_ontology DOID:0070335 celery allergy DOID:0070335 A vegetable allergy triggered by celery (Apium graveolens). url:https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?lvl=0&id=4045 An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. MIM:619334 disease_ontology DOID:0070336 arthrogryposis multiplex congenita-6 DOID:0070336 An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. url:https://pubmed.ncbi.nlm.nih.gov/33376055/ An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity. MESH:C565155 MIM:122400 COL17A1 ERED disease_ontology DOID:0070337 epithelial recurrent erosion dystrophy DOID:0070337 An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity. url:https://www.omim.org/entry/122400 COL17A1 ERED A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed. GARD:1194 MESH:C562568 disease_ontology DOID:0070338 cerebellar hypoplasia MESH:C562568 DOID:0070338 A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed. url:https://en.wikipedia.org/wiki/Cerebellar_hypoplasia url:https://www.ninds.nih.gov/health-information/disorders/cerebellar-hypoplasia A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. MIM:213000 ORDO:2246 disease_ontology DOID:0070339 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay DOID:0070339 A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. url:https://pubmed.ncbi.nlm.nih.gov/31785787/ A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34. MIM:215700 disease_ontology DOID:0070340 classic citrullinemia DOID:0070340 A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34. url:https://www.omim.org/entry/215700 A citrullinemia characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21. MIM:605814 neonatal-onset type 2 citrullinemia disease_ontology DOID:0070341 neonatal-onset type II citrullinemia DOID:0070341 A citrullinemia characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21. url:https://pubmed.ncbi.nlm.nih.gov/21424115/ A citrullinemia characterized by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21. MIM:603471 ORDO:247585 CTLN2 adolescent- or adult-onset citrin deficiency citrin deficiency disease_ontology DOID:0070342 adult-onset type II citrullinemia DOID:0070342 A citrullinemia characterized by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21. url:https://pubmed.ncbi.nlm.nih.gov/18620775/ CTLN2 A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life. MIM:600329 osteoporosis and infantile neuroaxonal dystrophy disease_ontology DOID:0070343 CSF1R-related brain malformation and osteopetrosis DOID:0070343 A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life. url:https://www.ncbi.nlm.nih.gov/articles/PMC6506793/ A tuberculosis that is located_in some eye, has_material_basis_in Mycobacterium tuberculosis, and has_symptom inflamed eyes. disease_ontology DOID:0070344 ocular tuberculosis DOID:0070344 A tuberculosis that is located_in some eye, has_material_basis_in Mycobacterium tuberculosis, and has_symptom inflamed eyes. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664543/ A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments. MIM:618223 heterozygotes for TBX2 variants disease_ontology DOID:0070345 vertebral anomalies and variable endocrine and T-cell dysfunction DOID:0070345 A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments. url:https://www.ncbi.nlm.nih.gov/pubmed/29726930 A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22. MIM:618571 disease_ontology DOID:0070346 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies DOID:0070346 A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22. url:https://www.ncbi.nlm.nih.gov/pubmed/618571 A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood. MIM:614388 disease_ontology DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 DOID:0070347 A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/30850373 A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles. MIM:PS158600 spinal muscular atrophy with lower extremity predominance disease_ontology DOID:0070348 spinal muscular atrophy with lower extremity predominant DOID:0070348 A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles. url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-lower-extremity-predominance A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. MIM:615290 spinal muscular atrophy with lower extremity predominance 2A disease_ontology DOID:0070349 spinal muscular atrophy with lower extremity predominant 2A DOID:0070349 A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. url:https://pubmed.ncbi.nlm.nih.gov/23664120/ A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. MIM:618291 spinal muscular atrophy with lower extremity predominance 2B disease_ontology DOID:0070350 spinal muscular atrophy with lower extremity predominant 2B DOID:0070350 A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. url:https://pubmed.ncbi.nlm.nih.gov/28635954/ A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. MIM:158600 spinal muscular atrophy with lower extremity predominance 1 disease_ontology DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 DOID:0070351 A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. url:https://pubmed.ncbi.nlm.nih.gov/20697106/ A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speech, hearing loss, and cerebellar atrophy. MIM:618170 CONDSIAS disease_ontology DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures DOID:0070352 A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speech, hearing loss, and cerebellar atrophy. url:https://www.ncbi.nlm.nih.gov/pubmed/30100084 url:https://www.omim.org/entry/618170 CONDSIAS A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea. MIM:612018 CTRCT47 disease_ontology DOID:0070353 cataract 47 DOID:0070353 A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea. url:https://www.omim.org/entry/612018 CTRCT47 A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment. MIM:618415 CTRCT48 disease_ontology DOID:0070354 cataract 48 DOID:0070354 A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment. url:https://www.ncbi.nlm.nih.gov/pubmed/30290152 url:https://www.omim.org/entry/618415 CTRCT48 A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia. ICD10CM:N32.81 ICD9CM:596.51 MESH:D053201 SNOMEDCT_US_2023_03_01:236633002 UMLS_CUI:C0878773 OAB overactive bladder urge syndrome urgency-frequency syndrome disease_ontology DOID:0070355 overactive bladder syndrome DOID:0070355 A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia. url:https://pubmed.ncbi.nlm.nih.gov/11857671/ url:https://pubmed.ncbi.nlm.nih.gov/19937315/ OAB An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3. MESH:D005128 MIM:618283 disease_ontology DOID:0070356 visual impairment and progressive phthisis bulbi DOID:0070356 An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3. url:https://en.wikipedia.org/wiki/Phthisis_bulbi url:https://www.ncbi.nlm.nih.gov/pubmed/29771303 url:https://www.uniprot.org/diseases/DI-05463 A familial nephrotic syndrome that has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males. MIM:301028 disease_ontology DOID:0070357 nephrotic syndrome type 20 DOID:0070357 A familial nephrotic syndrome that has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males. url:https://www.ncbi.nlm.nih.gov/pubmed/31732614 url:https://www.omim.org/entry/301028 A primary biliary cholangitis that has_material_basis_in variation at the IL12A locus on chromosome 3q25.33. MIM:109720 BILIARY CIRRHOSIS, PRIMARY, 1 PBC1 disease_ontology DOID:0070358 primary biliary cholangitis 1 DOID:0070358 A primary biliary cholangitis that has_material_basis_in variation at the IL12A locus on chromosome 3q25.33. url:https://pubmed.ncbi.nlm.nih.gov/19458352/ PBC1 A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3. MIM:613007 BILIARY CIRRHOSIS, PRIMARY, 2 PBC2 disease_ontology DOID:0070359 primary biliary cholangitis 2 DOID:0070359 A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3. url:https://pubmed.ncbi.nlm.nih.gov/19458352/ PBC2 A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2. MIM:613008 BILIARY CIRRHOSIS, PRIMARY, 3 PBC3 disease_ontology DOID:0070360 primary biliary cholangitis 3 DOID:0070360 A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2. url:https://pubmed.ncbi.nlm.nih.gov/19458352/ PBC3 A primary biliary cholangitis that has_material_basis_in variation near the IRF5-TNPO3 locus on chromosome 7q32. MIM:614220 BILIARY CIRRHOSIS, PRIMARY, 4 PBC4 disease_ontology DOID:0070361 primary biliary cholangitis 4 DOID:0070361 A primary biliary cholangitis that has_material_basis_in variation near the IRF5-TNPO3 locus on chromosome 7q32. url:https://pubmed.ncbi.nlm.nih.gov/20639879/ PBC4 A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21. MIM:614221 BILIARY CIRRHOSIS, PRIMARY, 5 PBC5 disease_ontology DOID:0070362 primary biliary cholangitis 5 DOID:0070362 A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21. url:https://pubmed.ncbi.nlm.nih.gov/20639879/ PBC5 A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24. MIM:608415 prolonged electroretinal response suppression 1 disease_ontology DOID:0070363 bradyopsia 1 MIM:608415 DOID:0070363 A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24. url:https://pubmed.ncbi.nlm.nih.gov/19818506/ url:https://www.omim.org/entry/608415 A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13. MIM:620344 prolonged electroretinal response suppression 2 disease_ontology DOID:0070364 bradyopsia 2 MIM:620344 DOID:0070364 A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/19818506/ url:https://www.omim.org/entry/620344 A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. MIM:109400 basal cell nevus syndrome 1 disease_ontology DOID:0070365 nevoid basal cell carcinoma syndrome 1 MIM:109400 DOID:0070365 A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. url:https://pubmed.ncbi.nlm.nih.gov/8658145/ url:https://www.omim.org/entry/109400 A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the SUFU gene on chromosome 10q24. MIM:620343 basal cell nevus syndrome 2 disease_ontology DOID:0070366 nevoid basal cell carcinoma syndrome 2 MIM:620343 DOID:0070366 A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the SUFU gene on chromosome 10q24. url:https://pubmed.ncbi.nlm.nih.gov/19533801/ url:https://www.omim.org/entry/620343 A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. MIM:620315 ORDO:99854 Cree leukoencephalopathy disease_ontology DOID:0070367 'Cree leukoencephalopathy' synonym included in this subtype because of genetic link. The severity of this disease remains variable [JAB]. leukoencephalopathy with vanishing white matter 5 MIM:620315 ORDO:99854 DOID:0070367 A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. url:https://pubmed.ncbi.nlm.nih.gov/12325082/ url:https://pubmed.ncbi.nlm.nih.gov/34745209/ url:https://www.omim.org/entry/620315 A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBC1 gene on chromosome 17q25. MIM:618935 disease_ontology DOID:0070368 autosomal recessive chronic granulomatous disease 5 DOID:0070368 A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBC1 gene on chromosome 17q25. url:https://pubmed.ncbi.nlm.nih.gov/30312704/ url:https://pubmed.ncbi.nlm.nih.gov/30361506/ A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. MIM:275210 disease_ontology DOID:0070369 restrictive dermopathy 1 MIM:275210 DOID:0070369 A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. url:https://www.ncbi.nlm.nih.gov/pubmed/15317753 url:https://www.ncbi.nlm.nih.gov/pubmed/20101687 A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. MIM:619793 disease_ontology DOID:0070370 restrictive dermopathy 2 MIM:619793 DOID:0070370 A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. url:https://pubmed.ncbi.nlm.nih.gov/15317753/ A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23. MIM:620314 disease_ontology DOID:0070371 leukoencephalopathy with vanishing white matter 4 MIM:620314 DOID:0070371 A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23. url:https://pubmed.ncbi.nlm.nih.gov/34745209/ url:https://www.omim.org/entry/620314 A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34. MIM:620313 disease_ontology DOID:0070372 leukoencephalopathy with vanishing white matter 3 MIM:620313 DOID:0070372 A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34. url:https://pubmed.ncbi.nlm.nih.gov/34745209/ url:https://www.omim.org/entry/620313 A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24. MIM:620312 disease_ontology DOID:0070373 leukoencephalopathy with vanishing white matter 2 MIM:620312 DOID:0070373 A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24. url:https://pubmed.ncbi.nlm.nih.gov/34745209/ url:https://www.omim.org/entry/620312 A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24. MIM:603896 disease_ontology DOID:0070374 leukoencephalopathy with vanishing white matter 1 MIM:603896 DOID:0070374 A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24. url:https://pubmed.ncbi.nlm.nih.gov/34745209/ url:https://www.omim.org/entry/603896 A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21. MIM:618004 DEE64 early infantile epileptic encephalopathy 64 disease_ontology DOID:0070375 developmental and epileptic encephalopathy 64 DOID:0070375 A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21. url:https://pubmed.ncbi.nlm.nih.gov/29276004/ url:https://pubmed.ncbi.nlm.nih.gov/29768694/ url:https://pubmed.ncbi.nlm.nih.gov/33504645/ url:https://pubmed.ncbi.nlm.nih.gov/37090824/ DEE64 A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34. MIM:620352 DEE31B disease_ontology DOID:0070376 developmental and epileptic encephalopathy 31B DOID:0070376 A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/34172529/ DEE31B A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21. MIM:619340 DEE96 disease_ontology DOID:0070377 developmental and epileptic encephalopathy 96 DOID:0070377 A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/31675180/ DEE96 A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13. MIM:620145 DEE109 disease_ontology DOID:0070378 developmental and epileptic encephalopathy 109 DOID:0070378 A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/34788397/ DEE109 A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. This disease has the same genetic basis as Dravet syndrome (DOID:0080422) but is more severe. MIM:619317 DEE6B disease_ontology DOID:0070379 developmental and epileptic encephalopathy 6B DOID:0070379 A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. This disease has the same genetic basis as Dravet syndrome (DOID:0080422) but is more severe. url:https://pubmed.ncbi.nlm.nih.gov/28794249/ DEE6B A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11. MIM:301044 DEE85 early infantile epileptic encephalopathy 85 disease_ontology DOID:0070380 developmental and epileptic encephalopathy 85 DOID:0070380 A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11. url:https://pubmed.ncbi.nlm.nih.gov/28166369/ url:https://pubmed.ncbi.nlm.nih.gov/31334757/ DEE85 A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26. MIM:301058 DEE90 disease_ontology DOID:0070381 developmental and epileptic encephalopathy 90 DOID:0070381 A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26. url:https://pubmed.ncbi.nlm.nih.gov/33245860/ DEE90 A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11. MIM:618143 DEE95 early infantile epileptic encephalopathy 95 disease_ontology DOID:0070382 developmental and epileptic encephalopathy 95 DOID:0070382 A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11. url:https://pubmed.ncbi.nlm.nih.gov/30269814/ DEE95 A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14. MIM:619561 DEE97 early infantile epileptic encephalopathy 97 disease_ontology DOID:0070383 developmental and epileptic encephalopathy 97 DOID:0070383 A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14. url:https://pubmed.ncbi.nlm.nih.gov/33131106/ DEE97 A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23. MIM:619605 DEE98 early infantile epileptic encephalopathy 98 disease_ontology DOID:0070384 developmental and epileptic encephalopathy 98 DOID:0070384 A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23. url:https://pubmed.ncbi.nlm.nih.gov/33880529/ DEE98 A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13. MIM:619606 DEE99 early infantile epileptic encephalopathy 99 disease_ontology DOID:0070385 developmental and epileptic encephalopathy 99 DOID:0070385 A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/33880529/ DEE99 A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42. MIM:619777 DEE100 early infantile epileptic encephalopathy 100 disease_ontology DOID:0070386 developmental and epileptic encephalopathy 100 DOID:0070386 A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42. url:https://pubmed.ncbi.nlm.nih.gov/33280099/ DEE100 A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. MIM:619814 DEE101 early infantile epileptic encephalopathy 101 disease_ontology DOID:0070387 developmental and epileptic encephalopathy 101 DOID:0070387 A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/34611970/ DEE101 A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21. MIM:619881 DEE102 early infantile epileptic encephalopathy 102 disease_ontology DOID:0070388 developmental and epileptic encephalopathy 102 DOID:0070388 A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21. url:https://pubmed.ncbi.nlm.nih.gov/34605855/ DEE102 A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21. MIM:619913 DEE103 early infantile epileptic encephalopathy 103 disease_ontology DOID:0070389 developmental and epileptic encephalopathy 103 DOID:0070389 A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21. url:https://pubmed.ncbi.nlm.nih.gov/35314505/ DEE103 A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21. MIM:619970 DEE104 early infantile epileptic encephalopathy 104 disease_ontology DOID:0070390 developmental and epileptic encephalopathy 104 DOID:0070390 A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/34909687/ DEE104 A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25. MIM:619983 DEE105 early infantile epileptic encephalopathy 105 disease_ontology DOID:0070391 developmental and epileptic encephalopathy 105 DOID:0070391 A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25. url:https://pubmed.ncbi.nlm.nih.gov/33999436/ DEE105 A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35. MIM:620028 DEE106 early infantile epileptic encephalopathy 106 disease_ontology DOID:0070392 developmental and epileptic encephalopathy 106 DOID:0070392 A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35. url:https://pubmed.ncbi.nlm.nih.gov/33473208/ DEE106 A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11. MIM:620033 DEE107 early infantile epileptic encephalopathy 107 disease_ontology DOID:0070393 developmental and epileptic encephalopathy 107 DOID:0070393 A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11. url:https://pubmed.ncbi.nlm.nih.gov/26235277/ url:https://pubmed.ncbi.nlm.nih.gov/28097321/ url:https://pubmed.ncbi.nlm.nih.gov/33189936/ DEE107 A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13. MIM:620115 DEE108 early infantile epileptic encephalopathy 108 disease_ontology DOID:0070394 developmental and epileptic encephalopathy 108 DOID:0070394 A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/34185323/ url:https://pubmed.ncbi.nlm.nih.gov/35095415/ DEE108 A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21. MIM:620149 DEE110 early infantile epileptic encephalopathy 110 disease_ontology DOID:0070395 developmental and epileptic encephalopathy 110 DOID:0070395 A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21. url:https://pubmed.ncbi.nlm.nih.gov/35293990/ DEE110 An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21. MIM:615889 disease_ontology ovarioleukodystrophy DOID:0070396 progressive leukoencephalopathy with ovarian failure MIM:615889 DOID:0070396 ORDO:99853 An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21. url:https://pubmed.ncbi.nlm.nih.gov/24808023/ A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death in the first or second decade of life. MIM:619688 HLD23 disease_ontology DOID:0070397 hypomyelinating leukodystrophy 23 DOID:0070397 A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death in the first or second decade of life. url:https://pubmed.ncbi.nlm.nih.gov/33964137/ HLD23 A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41. MIM:617951 HLD15 disease_ontology DOID:0070398 hypomyelinating leukodystrophy 15 DOID:0070398 A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41. url:https://pubmed.ncbi.nlm.nih.gov/29576217/ HLD15 A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42. MIM:618404 HLD18 disease_ontology DOID:0070399 hypomyelinating leukodystrophy 18 DOID:0070399 A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42. url:https://pubmed.ncbi.nlm.nih.gov/30620337/ HLD18 A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42. MIM:618688 HLD19 disease_ontology DOID:0070400 hypomyelinating leukodystrophy 19 DOID:0070400 A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42. url:https://pubmed.ncbi.nlm.nih.gov/31587869/ url:https://pubmed.ncbi.nlm.nih.gov/33785861/ HLD19 A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21. MIM:620243 HLD25 disease_ontology DOID:0070401 hypomyelinating leukodystrophy 25 DOID:0070401 A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21. url:https://pubmed.ncbi.nlm.nih.gov/35455965/ url:https://pubmed.ncbi.nlm.nih.gov/35953447/ HLD25 A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26. MIM:619328 HLD22 disease_ontology DOID:0070402 hypomyelinating leukodystrophy 22 DOID:0070402 A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26. url:https://pubmed.ncbi.nlm.nih.gov/33313762/ HLD22 A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21. MIM:620269 HLD26 disease_ontology DOID:0070403 hypomyelinating leukodystrophy 26 DOID:0070403 A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21. url:https://pubmed.ncbi.nlm.nih.gov/35325049/ HLD26 A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22. MIM:618006 HLD17 disease_ontology DOID:0070404 hypomyelinating leukodystrophy 17 DOID:0070404 A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22. url:https://pubmed.ncbi.nlm.nih.gov/29215095/ url:https://pubmed.ncbi.nlm.nih.gov/35140751/ HLD17 A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21. MIM:617964 HLD16 disease_ontology DOID:0070405 hypomyelinating leukodystrophy 16 DOID:0070405 A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21. url:https://pubmed.ncbi.nlm.nih.gov/29186371/ HLD16 A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. MIM:619851 HLD24 disease_ontology DOID:0070406 hypomyelinating leukodystrophy 24 DOID:0070406 A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. url:https://pubmed.ncbi.nlm.nih.gov/34403372/ HLD24 A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13. MIM:619310 HLD21 disease_ontology DOID:0070407 hypomyelinating leukodystrophy 21 DOID:0070407 A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13. url:https://pubmed.ncbi.nlm.nih.gov/30584594/ HLD21 A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23. MIM:619641 disease_ontology DOID:0070408 Hengel-Maroofian-Schols syndrome MIM:619641 DOID:0070408 A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23. url:https://pubmed.ncbi.nlm.nih.gov/34022130/ An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33. MIM:618800 SCAR28 disease_ontology DOID:0070409 autosomal recessive spinocerebellar ataxia 28 DOID:0070409 An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33. url:https://pubmed.ncbi.nlm.nih.gov/31168944/ SCAR28 An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14. MIM:619389 SCAR29 disease_ontology DOID:0070410 autosomal recessive spinocerebellar ataxia 29 DOID:0070410 An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14. url:https://pubmed.ncbi.nlm.nih.gov/33764426/ SCAR29 An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15. MIM:619405 SCAR30 disease_ontology DOID:0070411 autosomal recessive spinocerebellar ataxia 30 DOID:0070411 An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15. url:https://pubmed.ncbi.nlm.nih.gov/29764912/ SCAR30 An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25. MIM:619422 SCAR31 disease_ontology DOID:0070412 autosomal recessive spinocerebellar ataxia 31 DOID:0070412 An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25. url:https://pubmed.ncbi.nlm.nih.gov/34161705/ SCAR31 An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the PRDX3 gene on chromosome 10q26. MIM:619862 SCAR32 disease_ontology DOID:0070413 autosomal recessive spinocerebellar ataxia 32 DOID:0070413 An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the PRDX3 gene on chromosome 10q26. url:https://pubmed.ncbi.nlm.nih.gov/33889951/ SCAR32 An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13. MIM:620208 SCAR33 disease_ontology DOID:0070414 autosomal recessive spinocerebellar ataxia 33 DOID:0070414 An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13. url:https://pubmed.ncbi.nlm.nih.gov/27863452/ SCAR33 A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14. MIM:617412 BTDD MCINS Macinnes syndrome disease_ontology DOID:0070415 brachycephaly, trichomegaly, and developmental delay DOID:0070415 A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14. url:https://pubmed.ncbi.nlm.nih.gov/28257692/ BTDD MCINS A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25. MIM:619460 LUSYAM disease_ontology DOID:0070416 Luo-Schoch-Yamamoto syndrome DOID:0070416 A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25. url:https://pubmed.ncbi.nlm.nih.gov/33864376/ LUSYAM A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11. MIM:619056 NEDSID disease_ontology DOID:0070417 neurodevelopmental disorder with speech impairment and dysmorphic facies DOID:0070417 A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11. url:https://pubmed.ncbi.nlm.nih.gov/32346159/ NEDSID A syndrome characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs that has_material_basis_in heterozygous mutation in the GDF11 gene on chromosome 12q13. MIM:619122 VHO disease_ontology DOID:0070418 vertebral hypersegmentation and orofacial anomalies DOID:0070418 A syndrome characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs that has_material_basis_in heterozygous mutation in the GDF11 gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/31215115/ VHO A syndrome characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, congenital heart defect, genital anomalies, and intellectual deficit. GARD:1167 MESH:C563936 MIM:600460 ORDO:2008 cleft palate, cardiac defect, genital anomalies, and ectrodactyly cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome disease_ontology DOID:0070419 acrocardiofacial syndrome DOID:0070419 A syndrome characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, congenital heart defect, genital anomalies, and intellectual deficit. url:https://pubmed.ncbi.nlm.nih.gov/20920258 An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chromosome 4q31. MIM:620012 DEDHIL disease_ontology DOID:0070420 developmental delay, hypotonia, and impaired language DOID:0070420 An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chromosome 4q31. url:https://pubmed.ncbi.nlm.nih.gov/35395208/ DEDHIL An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23. MIM:618076 NEDSG disease_ontology DOID:0070421 neurodevelopmental disorder with spasticity and poor growth DOID:0070421 An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23. url:https://pubmed.ncbi.nlm.nih.gov/29868776/ NEDSG A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22. MIM:301076 MRXSP disease_ontology DOID:0070422 syndromic X-linked intellectual disability Pilorge type DOID:0070422 A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22. url:https://pubmed.ncbi.nlm.nih.gov/35294868/ MRXSP An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25. MIM:617193 ORDO:496641 PEBAT early-onset progressive encephalopathy with brain atrophy and thin corpus callosum disease_ontology DOID:0070423 early onset progressive encephalopathy with brain atrophy and thin corpus callosum DOID:0070423 An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25. url:https://pubmed.ncbi.nlm.nih.gov/27666370/ url:https://pubmed.ncbi.nlm.nih.gov/27666374/ url:https://pubmed.ncbi.nlm.nih.gov/36527993/ PEBAT A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33. MIM:618855 ORDO:166105 COXPD44 disease_ontology DOID:0070424 combined oxidative phosphorylation deficiency 44 MIM:618855 ORDO:166105 DOID:0070424 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33. url:https://pubmed.ncbi.nlm.nih.gov/31944455/ url:https://pubmed.ncbi.nlm.nih.gov/36531759/ COXPD44 A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11. MIM:619386 COXPD52 disease_ontology DOID:0070425 combined oxidative phosphorylation deficiency 52 MIM:619386 DOID:0070425 A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11. url:https://pubmed.ncbi.nlm.nih.gov/24498631/ url:https://pubmed.ncbi.nlm.nih.gov/33457206/ COXPD52 A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33. MIM:619423 COXPD53 disease_ontology DOID:0070426 combined oxidative phosphorylation deficiency 53 MIM:619423 DOID:0070426 A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33. url:https://pubmed.ncbi.nlm.nih.gov/33945503/ url:https://pubmed.ncbi.nlm.nih.gov/34038740/ COXPD53 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13. MIM:619737 COXPD54 disease_ontology DOID:0070427 combined oxidative phosphorylation deficiency 54 MIM:619737 DOID:0070427 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13. url:https://pubmed.ncbi.nlm.nih.gov/34715011/ COXPD54 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13. MIM:619743 COXPD55 disease_ontology DOID:0070428 combined oxidative phosphorylation deficiency 55 MIM:619743 DOID:0070428 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/33602924/ COXPD55 A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25. MIM:620139 COXPD56 disease_ontology DOID:0070429 combined oxidative phosphorylation deficiency 56 MIM:620139 DOID:0070429 A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25. url:https://pubmed.ncbi.nlm.nih.gov/35321494/ COXPD56 A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12. MIM:620167 COXPD57 disease_ontology DOID:0070430 combined oxidative phosphorylation deficiency 57 MIM:620167 DOID:0070430 A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12. url:https://pubmed.ncbi.nlm.nih.gov/35147173/ COXPD57 An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed. MESH:C565495 MIM:PS239300 ORDO:247262 SNOMEDCT_US_2023_03_01:33982008 UMLS_CUI:C1855923 HPMRS Mabry disease Mabry syndrome hyperphosphatasia with mental retardation syndrome disease_ontology DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome MIM:PS239300 ORDO:247262 UMLS_CUI:C1855923 DOID:0070431 An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed. url:https://medlineplus.gov/genetics/condition/mabry-syndrome/ url:https://pubmed.ncbi.nlm.nih.gov/26219719/ HPMRS A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12. MIM:616025 GPIBD11 HPMRS5 glycosylphosphatidylinositol biosynthesis defect 11 hyperphosphatasia with mental retardation syndrome 5 disease_ontology DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 MIM:616025 DOID:0070432 A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12. url:https://pubmed.ncbi.nlm.nih.gov/27626616/ GPIBD11 HPMRS5 A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36. MIM:239300 UMLS_CUI:C4551502 GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1 disease_ontology DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 MIM:239300 UMLS_CUI:C4551502 DOID:0070433 A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36. url:https://pubmed.ncbi.nlm.nih.gov/20802478/ url:https://pubmed.ncbi.nlm.nih.gov/29310717/ GPIBD2 HPMRS1 A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. MIM:614749 GPIBD6 HPMRS2 glycosylphosphatidylinositol biosynthesis defect 6 hyperphosphatasia with mental retardation syndrome 2 disease_ontology DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 MIM:614749 DOID:0070434 A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. url:https://pubmed.ncbi.nlm.nih.gov/22683086/ GPIBD6 HPMRS2 A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15. MIM:614207 GPIBD8 HPMRS3 glycosylphosphatidylinositol biosynthesis defect 8 hyperphosphatasia with mental retardation syndrome 3 disease_ontology DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 MIM:614207 DOID:0070435 A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15. url:https://pubmed.ncbi.nlm.nih.gov/23561846/ url:https://pubmed.ncbi.nlm.nih.gov/23561847/ url:https://pubmed.ncbi.nlm.nih.gov/36833286/ GPIBD8 HPMRS3 A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12. MIM:615716 GPIBD62 HPMRS6 glycosylphosphatidylinositol biosynthesis defect 62 hyperphosphatasia with mental retardation syndrome 6 disease_ontology DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 MIM:615716 DOID:0070436 A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12. url:https://pubmed.ncbi.nlm.nih.gov/24439110/ GPIBD62 HPMRS6 A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22. MIM:616809 GPIBD40 HPMRS4 glycosylphosphatidylinositol biosynthesis defect 40 hyperphosphatasia with mental retardation syndrome 4 disease_ontology DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 MIM:616809 DOID:0070437 A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22. url:https://pubmed.ncbi.nlm.nih.gov/26293662/ GPIBD40 HPMRS4 A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees. MIM:PS136550 MCDR disease_ontology DOID:0070438 retinal macular dystrophy MIM:PS136550 DOID:0070438 A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees. url:https://pubmed.ncbi.nlm.nih.gov/27496188/ url:https://pubmed.ncbi.nlm.nih.gov/35331648/ url:https://pubmed.ncbi.nlm.nih.gov/36243009 MCDR A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. GARD:9179 MESH:C537835 MIM:136550 NCI:C168999 ORDO:75327 SNOMEDCT_US_2023_03_01:312925009 UMLS_CUI:C0730294 MCDR1 NCMD central areolar pigment epithelial dystrophy central retinal pigment epithelial dystrophy progressive foveal dystrophy retinal macular dystrophy 1 disease_ontology DOID:0070439 North Carolina macular dystrophy GARD:9179 MESH:C537835 MIM:136550 ORDO:75327 UMLS_CUI:C0730294 DOID:0070439 A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. url:https://pubmed.ncbi.nlm.nih.gov/36243009 MCDR1 NCMD A retinal macular dystrophy that has_material_basis_in variation in the chromosomal region 5p15.33-p13.1. MIM:608850 MCDR3 disease_ontology DOID:0070440 retinal macular dystrophy 3 MIM:608850 DOID:0070440 A retinal macular dystrophy that has_material_basis_in variation in the chromosomal region 5p15.33-p13.1. url:https://pubmed.ncbi.nlm.nih.gov/27496188/ MCDR3 A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the CLEC3B gene on chromosome 3p21. MIM:619977 MCDR4 disease_ontology DOID:0070441 retinal macular dystrophy 4 MIM:619977 DOID:0070441 A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the CLEC3B gene on chromosome 3p21. url:https://pubmed.ncbi.nlm.nih.gov/35331648/ MCDR4 A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22. MIM:609446 ORDO:79137 generalized epilepsy and paroxysmal dyskinesia disease_ontology DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 MIM:609446 ORDO:79137 DOID:0070442 A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22. url:https://pubmed.ncbi.nlm.nih.gov/15937479/ url:https://pubmed.ncbi.nlm.nih.gov/26195193/ An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2. MIM:619333 disease_ontology DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction MIM:619333 DOID:0070443 An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2. url:https://pubmed.ncbi.nlm.nih.gov/33963192/ url:https://pubmed.ncbi.nlm.nih.gov/34569062/ An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22. MIM:619908 disease_ontology DOID:0070444 neurodevelopmental disorder with language delay and seizures MIM:619908 DOID:0070444 An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22. url:https://pubmed.ncbi.nlm.nih.gov/35240055/ A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1. MIM:619681 disease_ontology DOID:0070445 early-onset dystonia and/or spastic paraplegia MIM:619681 DOID:0070445 A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1. url:https://pubmed.ncbi.nlm.nih.gov/34636445/ A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3. MIM:618528 mitochondrial DNA depletion syndrome 16 (hepatic type) disease_ontology DOID:0070446 mitochondrial DNA depletion syndrome 16 MIM:618528 DOID:0070446 A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3. url:https://pubmed.ncbi.nlm.nih.gov/27592148/ url:https://pubmed.ncbi.nlm.nih.gov/30157269/ A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23. MIM:619425 mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) disease_ontology DOID:0070447 mitochondrial DNA depletion syndrome 16B MIM:619425 DOID:0070447 A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23. url:https://pubmed.ncbi.nlm.nih.gov/31778857/ A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome. MIM:618567 disease_ontology DOID:0070448 mitochondrial DNA depletion syndrome 17 MIM:618567 DOID:0070448 A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome. url:https://pubmed.ncbi.nlm.nih.gov/28973171/ A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3. MIM:618811 disease_ontology DOID:0070449 mitochondrial DNA depletion syndrome 18 MIM:618811 DOID:0070449 A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3. url:https://pubmed.ncbi.nlm.nih.gov/29517768/ A mitochondrial DNA depletion syndrome that has_material_basis_in compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3. MIM:618972 disease_ontology DOID:0070450 mitochondrial DNA depletion syndrome 19 MIM:618972 DOID:0070450 A mitochondrial DNA depletion syndrome that has_material_basis_in compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3. url:https://pubmed.ncbi.nlm.nih.gov/29211846/ A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12. MIM:619780 mitochondrial DNA depletion syndrome 20 (MNGIE type) disease_ontology DOID:0070451 mitochondrial DNA depletion syndrome 20 MIM:619780 DOID:0070451 A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12. url:https://pubmed.ncbi.nlm.nih.gov/33855352/ A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23. GARD:5621 MESH:C562584 MIM:278300 ORDO:93601 SNOMEDCT_US_2023_03_01:836343001 UMLS_CUI:C0268118 XAN1 disease_ontology DOID:0070452 xanthinuria type I DOID:0070452 A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23. url:https://pubmed.ncbi.nlm.nih.gov/9153281/ XAN1 A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12. GARD:5620 MESH:C566358 MIM:603592 ORDO:93602 UMLS_CUI:C1863688 XAN2 disease_ontology DOID:0070453 xanthinuria type II DOID:0070453 A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12. url:https://pubmed.ncbi.nlm.nih.gov/11302742/ url:https://pubmed.ncbi.nlm.nih.gov/23203137/ XAN2 A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3. MIM:620323 SPG70 autosomal recessive spastic paraplegia 70 disease_ontology DOID:0070454 hereditary spastic paraplegia 70 MIM:620323 DOID:0070454 A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3. url:https://pubmed.ncbi.nlm.nih.gov/34585293/ SPG70 A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. MIM:620221 SPG79A autosomal dominant spastic paraplegia 79A disease_ontology DOID:0070455 hereditary spastic paraplegia 79A MIM:620221 DOID:0070455 A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. url:https://pubmed.ncbi.nlm.nih.gov/35986737/ SPG79A A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3. MIM:619966 SPG87 autosomal recessive spastic paraplegia 87 disease_ontology DOID:0070456 hereditary spastic paraplegia 87 MIM:619966 DOID:0070456 A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3. url:https://pubmed.ncbi.nlm.nih.gov/35718349/ SPG87 A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2. MIM:620106 SPG88 autosomal dominant spastic paraplegia 88 disease_ontology DOID:0070457 hereditary spastic paraplegia 88 MIM:620106 DOID:0070457 A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2. url:https://pubmed.ncbi.nlm.nih.gov/34564892/ url:https://pubmed.ncbi.nlm.nih.gov/34825409/ url:https://pubmed.ncbi.nlm.nih.gov/34981581/ SPG88 A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13. MIM:620379 SPG89 autosomal recessive spastic paraplegia 89 disease_ontology DOID:0070458 hereditary spastic paraplegia 89 MIM:620379 DOID:0070458 A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13. url:https://pubmed.ncbi.nlm.nih.gov/37119330/ SPG89 A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1. MIM:620416 SPG90A autosomal dominant spastic paraplegia 90A disease_ontology DOID:0070459 hereditary spastic paraplegia 90A MIM:620416 DOID:0070459 A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1. url:https://pubmed.ncbi.nlm.nih.gov/36718090/ SPG90A A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1. MIM:620417 SPG90B autosomal recessive spastic paraplegia 90B disease_ontology DOID:0070460 hereditary spastic paraplegia 90B MIM:620417 DOID:0070460 A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1. url:https://pubmed.ncbi.nlm.nih.gov/36718090/ SPG90B A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance. MIM:620358 MC5DN4A disease_ontology DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A MIM:620358 DOID:0070461 A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance. url:https://pubmed.ncbi.nlm.nih.gov/34483339/ url:https://pubmed.ncbi.nlm.nih.gov/34954817/ MC5DN4A A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance. MIM:615228 MC5DN4B disease_ontology DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B MIM:615228 DOID:0070462 A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance. url:https://pubmed.ncbi.nlm.nih.gov/23599390/ MC5DN4B A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3. MIM:618120 MC5DN5 disease_ontology DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 MIM:618120 DOID:0070463 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3. url:https://pubmed.ncbi.nlm.nih.gov/29478781/ MC5DN5 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11. MIM:620359 MC5DN7 disease_ontology DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 MIM:620359 DOID:0070464 A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11. url:https://pubmed.ncbi.nlm.nih.gov/34954817/ url:https://pubmed.ncbi.nlm.nih.gov/35621276/ MC5DN7 An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3. MIM:618387 SCAN3 autosomal recessive spinocerebellar ataxia with axonal neuropathy 3 spinocerebellar ataxia with axonal neuropathy 3 disease_ontology DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 DOID:0070465 An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3. url:https://pubmed.ncbi.nlm.nih.gov/29718187/ SCAN3 A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1. MIM:115430 CTS1 disease_ontology DOID:0070466 carpal tunnel syndrome 1 DOID:0070466 A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1. url:https://pubmed.ncbi.nlm.nih.gov/8309582/ CTS1 A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11. MIM:619161 CTS2 disease_ontology DOID:0070467 carpal tunnel syndrome 2 DOID:0070467 A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11. url:https://pubmed.ncbi.nlm.nih.gov/32686688/ CTS2 A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23. MIM:619701 YOBELN disease_ontology DOID:0070468 Yoon-Bellen neurodevelopmental syndrome MIM:619701 DOID:0070468 A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23. url:https://pubmed.ncbi.nlm.nih.gov/28017472/ url:https://pubmed.ncbi.nlm.nih.gov/34800363/ YOBELN An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2. MIM:619480 NEDDFAC disease_ontology DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum MIM:619480 DOID:0070469 An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2. url:https://pubmed.ncbi.nlm.nih.gov/31924697/ url:https://pubmed.ncbi.nlm.nih.gov/36255738/ NEDDFAC A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common. MIM:618815 ORDO:656279 UMLS_CUI:C5394150 CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT disease_ontology DOID:0070470 chromosome 1p36.33 duplication syndrome MIM:618815 ORDO:656279 UMLS_CUI:C5394150 DOID:0070470 A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common. url:https://pubmed.ncbi.nlm.nih.gov/32004445/ url:https://pubmed.ncbi.nlm.nih.gov/33575671/ An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2. MIM:618832 EPEO2 disease_ontology DOID:0070471 early-onset epilepsy 2 MIM:618832 DOID:0070471 An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2. url:https://pubmed.ncbi.nlm.nih.gov/31197650/ EPEO2 An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3. MIM:620465 EPEO3 disease_ontology DOID:0070472 early-onset epilepsy 3 MIM:620465 DOID:0070472 An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3. url:https://pubmed.ncbi.nlm.nih.gov/36074901/ url:https://pubmed.ncbi.nlm.nih.gov/37161035/ EPEO3 A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies. MIM:619648 disease_ontology DOID:0070473 Zaki syndrome MIM:619648 DOID:0070473 A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies. url:https://pubmed.ncbi.nlm.nih.gov/34587386/ url:https://pubmed.ncbi.nlm.nih.gov/37005218/ A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31. GARD:13658 MIM:617672 ORDO:500180 SNOMEDCT_US_2023_03_01:1167373005 UMLS_CUI:C4540086 UMLS_CUI:C5567227 CONDBA childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder disease_ontology DOID:0070474 childhood-onset neurodegeneration with brain atrophy GARD:13658 MIM:617672 ORDO:500180 SNOMEDCT_US_2023_03_01:1167373005 UMLS_CUI:C4540086 UMLS_CUI:C5567227 DOID:0070474 A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31. url:https://pubmed.ncbi.nlm.nih.gov/28777933/ CONDBA A renal cell carcinoma that develops in the renal medulla. GARD:13175 NCI:C7572 ORDO:319319 SNOMEDCT_US_2023_10_01:765095002 UMLS_CUI:C5708330 RMC kidney medullary carcinoma medullary carcinoma of the kidney medullary renal cell carcinoma renal medullary carcinoma disease_ontology DOID:0070475 SMARCB1-deficient renal medullary carcinoma GARD:13175 NCI:C7572 ORDO:319319 SNOMEDCT_US_2023_10_01:765095002 UMLS_CUI:C4049328 DOID:0070475 A renal cell carcinoma that develops in the renal medulla. url:https://pubmed.ncbi.nlm.nih.gov/28697319/ url:https://pubmed.ncbi.nlm.nih.gov/35853783/ url:https://pubmed.ncbi.nlm.nih.gov/36645398/ RMC An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2). MIM:PS616901 ORDO:459061 DEDSSH craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome developmental delay with short stature, dysmorphic facial features, and sparse hair disease_ontology DOID:0070476 diphthamide deficiency syndrome MIM:PS616901 ORDO:459061 DOID:0070476 An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2). url:https://pubmed.ncbi.nlm.nih.gov/32576952/ url:https://pubmed.ncbi.nlm.nih.gov/35482014/ DEDSSH A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3. MIM:616901 DEDSSH1 DPH1 syndrome Loucks-Innes syndrome developmental delay with short stature, dysmorphic facial features, and sparse hair 1 disease_ontology DOID:0070477 diphthamide deficiency syndrome 1 MIM:616901 DOID:0070477 A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3. url:https://pubmed.ncbi.nlm.nih.gov/30877278/ DEDSSH1 A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1. MIM:620062 DEDSSH2 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 disease_ontology DOID:0070478 diphthamide deficiency syndrome 2 MIM:620062 DOID:0070478 A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1. url:https://pubmed.ncbi.nlm.nih.gov/32576952/ DEDSSH2 An diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2. MIM:620070 NEDSFF disease_ontology DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties MIM:620070 DOID:0070479 An diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2. url:https://pubmed.ncbi.nlm.nih.gov/35482014/ NEDSFF A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23. neurofibromatosis 3 MIM:162091 NCI:C186703 UMLS_CUI:C5670707 SMARCB1-related schwannomatosis SWN1 disease_ontology DOID:0070480 schwannomatosis 1 MIM:162091 NCI:C186703 UMLS_CUI:C5670707 DOID:0070480 A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23. url:https://pubmed.ncbi.nlm.nih.gov/19582488/ url:https://pubmed.ncbi.nlm.nih.gov/35674741/ SWN1 A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2. neurofibromatosis 3 MIM:615670 NCI:C186704 UMLS_CUI:C5670708 LZTR1-related schwannomatosis SWN2 disease_ontology DOID:0070481 schwannomatosis 2 MIM:615670 NCI:C186704 UMLS_CUI:C5670708 DOID:0070481 A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2. url:https://pubmed.ncbi.nlm.nih.gov/24362817/ url:https://pubmed.ncbi.nlm.nih.gov/35674741/ SWN2 A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots. MIM:162210 FNSF SNF familial spinal neurofibromatosis disease_ontology DOID:0070482 spinal neurofibromatosis MIM:162210 DOID:0070482 A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots. url:https://pubmed.ncbi.nlm.nih.gov/25211147/ url:https://pubmed.ncbi.nlm.nih.gov/34012067/ FNSF SNF A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2. MIM:193520 disease_ontology DOID:0070483 Watson syndrome MIM:193520 DOID:0070483 A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2. url:https://pubmed.ncbi.nlm.nih.gov/1770531/ url:https://pubmed.ncbi.nlm.nih.gov/6025371/ A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14. GARD:10714 MESH:C548032 MIM:611431 NCI:C176941 ORDO:137605 SNOMEDCT_US_2023_03_01:703541007 UMLS_CUI:C1969623 LGSS NF1-like syndrome neurofibromatosis type 1-like syndrome disease_ontology DOID:0070484 Legius syndrome GARD:10714 MESH:C548032 MIM:611431 NCI:C176941 ORDO:137605 SNOMEDCT_US_2023_03_01:703541007 UMLS_CUI:C1969623 DOID:0070484 A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14. url:https://pubmed.ncbi.nlm.nih.gov/34012067/ LGSS A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22. MIM:620275 UMLS_CUI:C5830322 MC4DN23 disease_ontology DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 MIM:620275 UMLS_CUI:C5830322 DOID:0070485 A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22. url:https://pubmed.ncbi.nlm.nih.gov/36030551/ MC4DN23 An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11. MIM:620482 PARK25 autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development disease_ontology DOID:0070486 Parkinson's disease 25 MIM:620482 DOID:0070486 An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11. url:https://pubmed.ncbi.nlm.nih.gov/36073231/ url:https://pubmed.ncbi.nlm.nih.gov/37046398/ PARK25 A movement disease characterized by parkinsonism-dystonia including tremor, progressive bradykinesia, and dystonic posturing that has_material_basis_in mutation in the SLC6A3 gene on chromosome 5p15.33. DTDS disease_ontology DOID:0070487 dopamine transporter deficiency syndrome DOID:0070487 A movement disease characterized by parkinsonism-dystonia including tremor, progressive bradykinesia, and dystonic posturing that has_material_basis_in mutation in the SLC6A3 gene on chromosome 5p15.33. url:https://pubmed.ncbi.nlm.nih.gov/37443770/ url:https://www.ncbi.nlm.nih.gov/books/NBK442323/ DTDS A dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia. atypical DTDS disease_ontology DOID:0070488 atypical dopamine transporter deficiency syndrome DOID:0070488 A dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia. url:https://pubmed.ncbi.nlm.nih.gov/37443770/ url:https://www.ncbi.nlm.nih.gov/books/NBK442323/ A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. GARD:10484 MESH:C567730 MIM:613135 NCI:C129866 ORDO:238455 SNOMEDCT_US_2023_03_01:722763000 UMLS_CUI:C2751067 PKDYS1 classic DTDS infantile parkinsonism-dystonia 1 disease_ontology DOID:0070489 classic dopamine transporter deficiency syndrome MIM:PS613135 GARD:10484 MESH:C567730 MIM:613135 NCI:C129866 ORDO:238455 SNOMEDCT_US_2023_03_01:722763000 UMLS_CUI:C2751067 DOID:0070489 A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. url:https://pubmed.ncbi.nlm.nih.gov/37443770/ url:https://www.ncbi.nlm.nih.gov/books/NBK442323/ PKDYS1 A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3. GARD:13594 MIM:618049 SNOMEDCT_US_2023_03_01:717942003 UMLS_CUI:C4303546 UMLS_CUI:C4747991 Brain dopamine-serotonin vesicular transport disease PKDYS2 disease_ontology DOID:0070490 infantile parkinsonism-dystonia 2 MIM:PS613135 GARD:13594 MIM:618049 SNOMEDCT_US_2023_03_01:717942003 UMLS_CUI:C4303546 UMLS_CUI:C4747991 DOID:0070490 A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3. url:https://pubmed.ncbi.nlm.nih.gov/23363473/ PKDYS2 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2. MIM:220110 NCI:C176895 UMLS_CUI:C5435656 MC4DN1 disease_ontology DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 MIM:220110 NCI:C176895 UMLS_CUI:C5435656 DOID:0070491 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2. url:https://pubmed.ncbi.nlm.nih.gov/10746561/ MC4DN1 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12. MIM:619046 UMLS_CUI:C5436682 MC4DN3 disease_ontology DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 MIM:619046 UMLS_CUI:C5436682 DOID:0070492 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12. url:https://pubmed.ncbi.nlm.nih.gov/10767350/ url:https://pubmed.ncbi.nlm.nih.gov/12928484/ MC4DN3 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1. MIM:619048 UMLS_CUI:C5436683 MC4DN4 disease_ontology DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 MIM:619048 UMLS_CUI:C5436683 DOID:0070493 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1. url:https://pubmed.ncbi.nlm.nih.gov/11013136/ url:https://pubmed.ncbi.nlm.nih.gov/19295170/ MC4DN4 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12. MIM:619051 UMLS_CUI:C5436685 MC4DN7 disease_ontology DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 MIM:619051 UMLS_CUI:C5436685 DOID:0070494 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12. url:https://pubmed.ncbi.nlm.nih.gov/18499082/ url:https://pubmed.ncbi.nlm.nih.gov/24781756/ MC4DN7 A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3. MIM:619052 UMLS_CUI:C5436689 MC4DN8 disease_ontology DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 MIM:619052 UMLS_CUI:C5436689 DOID:0070495 A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3. url:https://pubmed.ncbi.nlm.nih.gov/20727754/ MC4DN8 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12. MIM:619053 UMLS_CUI:C5436692 MC4DN10 disease_ontology DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 MIM:619053 UMLS_CUI:C5436692 DOID:0070496 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12. url:https://pubmed.ncbi.nlm.nih.gov/22243966/ MC4DN10 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44. MIM:619054 UMLS_CUI:C5436694 MC4DN11 disease_ontology DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 MIM:619054 UMLS_CUI:C5436694 DOID:0070497 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44. url:https://pubmed.ncbi.nlm.nih.gov/24202787/ url:https://pubmed.ncbi.nlm.nih.gov/33751098/ MC4DN11 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2. MIM:619055 UMLS_CUI:C5436695 MC4DN12 disease_ontology DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 MIM:619055 UMLS_CUI:C5436695 DOID:0070498 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2. url:https://pubmed.ncbi.nlm.nih.gov/24462369/ MC4DN12 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. MIM:619058 UMLS_CUI:C5436710 MC4DN14 disease_ontology DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 MIM:619058 UMLS_CUI:C5436710 DOID:0070499 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. url:https://pubmed.ncbi.nlm.nih.gov/25604084/ MC4DN14 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1. MIM:619059 UMLS_CUI:C5436712 MC4DN15 disease_ontology DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 MIM:619059 UMLS_CUI:C5436712 DOID:0070500 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1. url:https://pubmed.ncbi.nlm.nih.gov/26685157/ MC4DN15 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1. MIM:619060 UMLS_CUI:C5436714 MC4DN16 disease_ontology DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 MIM:619060 UMLS_CUI:C5436714 DOID:0070501 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1. url:https://pubmed.ncbi.nlm.nih.gov/31290619/ MC4DN16 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33. MIM:619061 UMLS_CUI:C5436718 MC4DN17 disease_ontology DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 MIM:619061 UMLS_CUI:C5436718 DOID:0070502 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33. url:https://pubmed.ncbi.nlm.nih.gov/25175347/ MC4DN17 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2. MIM:619062 UMLS_CUI:C5436720 MC4DN18 disease_ontology DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 MIM:619062 UMLS_CUI:C5436720 DOID:0070503 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2. url:https://pubmed.ncbi.nlm.nih.gov/31155743/ MC4DN18 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23. MIM:619063 UMLS_CUI:C5436723 MC4DN19 disease_ontology DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 MIM:619063 UMLS_CUI:C5436723 DOID:0070504 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23. url:https://pubmed.ncbi.nlm.nih.gov/28386624/ MC4DN19 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2. MIM:619064 UMLS_CUI:C5436726 MC4DN20 disease_ontology DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 MIM:619064 UMLS_CUI:C5436726 DOID:0070505 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2. url:https://pubmed.ncbi.nlm.nih.gov/28247525/ MC4DN20 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3. MIM:619065 UMLS_CUI:C5436727 MC4DN21 disease_ontology DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 MIM:619065 UMLS_CUI:C5436727 DOID:0070506 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3. url:https://pubmed.ncbi.nlm.nih.gov/23746447/ MC4DN21 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2. MIM:619355 UMLS_CUI:C5543491 MC4DN22 disease_ontology DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 MIM:619355 UMLS_CUI:C5543491 DOID:0070507 A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2. url:https://pubmed.ncbi.nlm.nih.gov/33169484/ MC4DN22 A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol. MetALD metabolic dysfunction and alcohol related liver disease disease_ontology DOID:0070508 metabolic dysfunction and alcohol associated liver disease DOID:0070508 A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol. url:https://pubmed.ncbi.nlm.nih.gov/37364816/ MetALD An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. GARD:117 MESH:C536632 MIM:269150 NCI:C129308 ORDO:798 SNOMEDCT_US_2023_03_01:18899000 UMLS_CUI:C0265227 SGS Schinzel-Giedion midface retraction syndrome disease_ontology DOID:0070509 Schinzel Giedion syndrome GARD:117 MESH:C536632 MIM:269150 NCI:C129308 ORDO:798 SNOMEDCT_US_2023_03_01:18899000 UMLS_CUI:C0265227 DOID:0070509 An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. url:https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome/ url:https://pubmed.ncbi.nlm.nih.gov/20436468/ SGS A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2. MIM:620199 UMLS_CUI:C5774293 IPHAK LIPHAK LIPHAK syndrome disease_ontology DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses MIM:620199 UMLS_CUI:C5774293 DOID:0070510 A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2. url:https://pubmed.ncbi.nlm.nih.gov/34999892/ IPHAK LIPHAK A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3. GARD:12913 MESH:C567020 MIM:611087 ORDO:500533 SNOMEDCT_US_2023_03_01:1167371007 UMLS_CUI:C1970203 PMSE PMSE syndrome Pretzel syndrome disease_ontology DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy GARD:12913 MESH:C567020 MIM:611087 ORDO:500533 SNOMEDCT_US_2023_03_01:1167371007 UMLS_CUI:C1970203 DOID:0070511 A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3. url:https://pubmed.ncbi.nlm.nih.gov/17522105/ url:https://pubmed.ncbi.nlm.nih.gov/33605605/ PMSE A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3. MIM:620455 NEDHSS disease_ontology DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay MIM:620455 DOID:0070512 A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3. url:https://pubmed.ncbi.nlm.nih.gov/36528028/ NEDHSS An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22. MIM:620489 NEDFBA disease_ontology DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities MIM:620489 DOID:0070513 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22. url:https://pubmed.ncbi.nlm.nih.gov/37071997/ NEDFBA An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2. MIM:617755 NEDDFL disease_ontology DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MIM:617755 DOID:0070514 An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2. url:https://pubmed.ncbi.nlm.nih.gov/28942966/ url:https://pubmed.ncbi.nlm.nih.gov/33522091/ NEDDFL A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb). GARD:10740 MIM:611913 ORDO:261197 UMLS_CUI:C3150154 UMLS_CUI:C4273657 Proximal 16p11.2 microdeletion syndrome disease_ontology DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ICD10CM:Q93.5 GARD:10740 MIM:611913 ORDO:261197 UMLS_CUI:C3150154 UMLS_CUI:C4273657 DOID:0070515 A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb). url:https://pubmed.ncbi.nlm.nih.gov/19914906/ url:https://www.ncbi.nlm.nih.gov/books/NBK11167/ A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1. MIM:618960 ORDO:631248 UMLS_CUI:C5394554 disease_ontology DOID:0070516 Mitchell syndrome appears to be the result of gain-of-function variants in the ACOX1 gene that increase reactive oxygen species production without altering very-long-chain fatty acid production. Mitchell syndrome MIM:618960 ORDO:631248 UMLS_CUI:C5394554 DOID:0070516 A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1. url:https://pubmed.ncbi.nlm.nih.gov/32169171/ url:https://pubmed.ncbi.nlm.nih.gov/37400800/ A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32. MESH:C562746 MIM:608051 ORDO:319640 SNOMEDCT_US_2023_03_01:770594005 UMLS_CUI:C4749334 MCDR2 disease_ontology DOID:0070517 retinal macular dystrophy 2 MESH:C562746 MIM:608051 ORDO:319640 SNOMEDCT_US_2023_03_01:770594005 UMLS_CUI:C4749334 DOID:0070517 A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32. url:https://pubmed.ncbi.nlm.nih.gov/12657606/ url:https://pubmed.ncbi.nlm.nih.gov/20393116/ MCDR2 A lipomatosis characterized by the development of numerous encapsulated lipomas on the extremities and trunk that has_material_basis_in autosomal dominant inheritance. GARD:12925 MESH:D000071070 MIM:151900 ORDO:199276 UMLS_CUI:C1275273 disease_ontology DOID:0070518 familial multiple lipomatosis GARD:12925 MESH:D000071070 MIM:151900 ORDO:199276 UMLS_CUI:C1275273 DOID:0070518 A lipomatosis characterized by the development of numerous encapsulated lipomas on the extremities and trunk that has_material_basis_in autosomal dominant inheritance. url:https://pubmed.ncbi.nlm.nih.gov/12516905/ url:https://pubmed.ncbi.nlm.nih.gov/32021365/ A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. MIM:266100 AASA dehydrogenase deficiency EPEO4 PDE-ALDH7A1 antiquitin deficiency disease_ontology DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 MIM:266100 DOID:0070519 A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. url:https://pubmed.ncbi.nlm.nih.gov/29053735/ url:https://pubmed.ncbi.nlm.nih.gov/30043187/ url:https://www.ncbi.nlm.nih.gov/books/NBK1486/ EPEO4 PDE-ALDH7A1 A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33. MIM:270300 ORDO:263553 UMLS_CUI:C5679693 UMLS_CUI:C5768235 PSS1 generalized inflammatory peeling skin syndrome inflammatory peeling skin syndrome peeling skin syndrome type B disease_ontology DOID:0070520 peeling skin syndrome 1 MIM:270300 ORDO:263553 UMLS_CUI:C5679693 UMLS_CUI:C5768235 DOID:0070520 A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33. url:https://pubmed.ncbi.nlm.nih.gov/20691404/ url:https://pubmed.ncbi.nlm.nih.gov/28584761 PSS1 A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2. APSS acral peeling skin syndrome localized peeling skin syndrome GARD:12863 MESH:C536316 MIM:609796 ORDO:263534 SNOMEDCT_US_2023_03_01:709416009 UMLS_CUI:C1853354 PSS2 disease_ontology DOID:0070521 peeling skin syndrome 2 GARD:12863 MESH:C536316 MIM:609796 ORDO:263534 SNOMEDCT_US_2023_03_01:709416009 UMLS_CUI:C1853354 DOID:0070521 A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2. url:https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2/ url:https://pubmed.ncbi.nlm.nih.gov/16380904/ url:https://pubmed.ncbi.nlm.nih.gov/22036214/ APSS PSS2 A peeling skin syndrome that has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 19q13. peeling skin syndrome type A MIM:616265 PSS3 disease_ontology DOID:0070522 peeling skin syndrome 3 ORDO:263548 MIM:616265 DOID:0070522 A peeling skin syndrome that has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 19q13. url:https://pubmed.ncbi.nlm.nih.gov/22289416/ url:https://pubmed.ncbi.nlm.nih.gov/28204496/ PSS3 A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1. AREI autosomal recessive exfoliative ichthyosis exfoliative ichthyosis ichthyosis exfoliativa MESH:C564309 MIM:607936 PSS4 ichthyosis bullosa of Siemens-like disease_ontology DOID:0070523 peeling skin syndrome 4 MESH:C564309 MIM:607936 DOID:0070523 A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1. url:https://pubmed.ncbi.nlm.nih.gov/21944047/ url:https://pubmed.ncbi.nlm.nih.gov/23534700/ AREI PSS4 A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1. autosomal recessive exfoliative ichthyosis exfoliative ichthyosis ichthyosis exfoliativa MIM:617115 PSS5 disease_ontology DOID:0070524 peeling skin syndrome 5 MIM:617115 DOID:0070524 A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1. url:https://pubmed.ncbi.nlm.nih.gov/27476651/ PSS5 A peeling skin syndrome that has_material_basis_in homozygous mutation in the FLG2 gene on chromosome 1q21.3. peeling skin syndrome type A MIM:618084 PSS6 disease_ontology DOID:0070525 peeling skin syndrome 6 ORDO:263548 MIM:618084 DOID:0070525 A peeling skin syndrome that has_material_basis_in homozygous mutation in the FLG2 gene on chromosome 1q21.3. url:https://pubmed.ncbi.nlm.nih.gov/29505760/ url:https://pubmed.ncbi.nlm.nih.gov/29758285/ PSS6 An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15. MIM:616295 ORDO:444138 SNOMEDCT_US_2023_03_01:1237509001 UMLS_CUI:C4225381 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads disease_ontology DOID:0070526 PLACK syndrome MIM:616295 ORDO:444138 SNOMEDCT_US_2023_03_01:1237509001 UMLS_CUI:C4225381 DOID:0070526 An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15. url:https://pubmed.ncbi.nlm.nih.gov/25683118/ A primary bacterial infectious disease that has_material_basis_in Borrelia miyamotoi, which is transmitted_by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persulcatus), or the castor bean tick (Ixodes ricinus). The infection has_symptom fever, headache, chills, muscle pain, joint pain, asthenia, fatigue and nausea, and rarely relapses. SNOMEDCT_US_2023_03_01:713014002 UMLS_CUI:C4076531 BMD hard tick-borne relapsing fever disease_ontology DOID:0070527 Borrelia miyamotoi disease SNOMEDCT_US_2023_03_01:713014002 UMLS_CUI:C4076531 DOID:0070527 A primary bacterial infectious disease that has_material_basis_in Borrelia miyamotoi, which is transmitted_by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persulcatus), or the castor bean tick (Ixodes ricinus). The infection has_symptom fever, headache, chills, muscle pain, joint pain, asthenia, fatigue and nausea, and rarely relapses. url:https://pubmed.ncbi.nlm.nih.gov/36113496/ url:https://pubmed.ncbi.nlm.nih.gov/36839539 BMD An opportunistic bacterial infectious disease characterized by necrotizing pneumonia, acute respiratory distress syndrome, and bacteremia that has_material_basis_in Burkholderia cepacia complex, which is transmitted_by contact transmission, droplet spread transmission, vehicle-borne fomite transmission, and vehicle-borne ingestion transmission. CS disease_ontology DOID:0070528 This disease occurs primarily in patients with cystic fibrosis. Cases have been seen where the disease develops years after initial infection. cepacia syndrome DOID:0070528 An opportunistic bacterial infectious disease characterized by necrotizing pneumonia, acute respiratory distress syndrome, and bacteremia that has_material_basis_in Burkholderia cepacia complex, which is transmitted_by contact transmission, droplet spread transmission, vehicle-borne fomite transmission, and vehicle-borne ingestion transmission. url:https://pubmed.ncbi.nlm.nih.gov/15463897/ url:https://pubmed.ncbi.nlm.nih.gov/33214785/ url:https://pubmed.ncbi.nlm.nih.gov/36815622/ url:https://www.cdc.gov/hai/organisms/bcepacia.html CS An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31. MIM:617159 ORDO:653712 CHD4 Neurodevelopmental Disorder CHD4-related neurodevelopmental disorder CHD4-related neurodevelopmental syndrome SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME SIHIWES disease_ontology DOID:0070529 Sifrim-Hitz-Weiss syndrome MIM:617159 ORDO:653712 DOID:0070529 An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31. url:https://pubmed.ncbi.nlm.nih.gov/27479907/ url:https://pubmed.ncbi.nlm.nih.gov/27616479/ url:https://www.ncbi.nlm.nih.gov/books/NBK561516/ SIHIWES A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. MIM:136520 FVH1 foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract O'Donnell-Pappas syndrome foveal hypoplasia-presenile cataract syndrome disease_ontology DOID:0070530 PAX6 gene variation results in a number of eye diseases, including aniridia 1, that are primarily distinguished by phenotype. These phenotypes may correspond to different variants but there is not definitive evidence at this time to clearly define them all. O'Donnell-Pappas syndrome/foveal hypoplasia-presenile cataract syndrome refers to the subset of FVH1 with presenile cataract. This characteristic is not sufficient for distinction from FVH1 at this time [JAB, 2024-01-23]. foveal hypoplasia 1 MIM:136520 GARD:406 ORDO:2253 UMLS_CUI:C2931644 DOID:0070530 A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. url:https://disorders.eyes.arizona.edu/category/alternate-names/odonnell-pappas-syndrome url:https://eyewiki.org/Foveal_Hypoplasia url:https://pubmed.ncbi.nlm.nih.gov/12721955/ url:https://pubmed.ncbi.nlm.nih.gov/24290379/ url:https://pubmed.ncbi.nlm.nih.gov/7065945/ FVH1 A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen. MIM:609218 ORDO:397618 SNOMEDCT_US_2023_03_01:782754006 UMLS_CUI:C5190596 FVH2 foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis FHONDA FHONDA syndrome foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis disease_ontology DOID:0070531 FHONDA syndrome refers to a subset of FVH2 with both optic nerve decussation defects and anterior segment dysgenesis. These characteristics are not sufficient for distinction from FVH2 at this time [JAB, 2024-01-23]. foveal hypoplasia 2 MIM:609218 ORDO:397618 SNOMEDCT_US_2023_03_01:782754006 UMLS_CUI:C5190596 DOID:0070531 A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen. url:https://pubmed.ncbi.nlm.nih.gov/24045842/ url:https://pubmed.ncbi.nlm.nih.gov/24290379/ url:https://pubmed.ncbi.nlm.nih.gov/33498813/ FVH2 FHONDA An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common. MIM:106210 disease_ontology DOID:0070532 PAX6 gene variation may result in a number of different eye diseases, including foveal hypoplasia 1, that are primarily distinguished by phenotype. These phenotypes may correspond to different variants but there is not definitive evidence at this time to clearly define them all [JAB, 2024-01-23]. aniridia 1 MIM:106210 DOID:0070532 An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common. url:https://eyewiki.org/Aniridia url:https://pubmed.ncbi.nlm.nih.gov/12721955/ A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CALM3 gene on chromosome 19q13.32. Syncope, cardiac arrest, and sudden death are common. MIM:618782 LQT16 disease_ontology DOID:0070533 long QT syndrome 16 MIM:618782 DOID:0070533 A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CALM3 gene on chromosome 19q13.32. Syncope, cardiac arrest, and sudden death are common. url:https://pubmed.ncbi.nlm.nih.gov/25460178/ url:https://pubmed.ncbi.nlm.nih.gov/31454269/ LQT16 An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty left ventricular myocardium and ventricular arrhythmias with a right bundle branch block pattern, with limited to no involvement of the right ventricle. ORDO:293888 ALVC left ventricular ACM left-dominant arrhythmogenic cardiomyopathy disease_ontology DOID:0070534 arrhythmogenic left ventricular cardiomyopathy DOID:0070534 An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty left ventricular myocardium and ventricular arrhythmias with a right bundle branch block pattern, with limited to no involvement of the right ventricle. url:https://pubmed.ncbi.nlm.nih.gov/31637441/ ALVC An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty replacement in both the left and right ventricular myocardium, with ventricular arrhythmias with left and right bundle branch block patterns. ORDO:293899 biventricular ACM disease_ontology DOID:0070535 arrhythmogenic biventricular cardiomyopathy DOID:0070535 An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty replacement in both the left and right ventricular myocardium, with ventricular arrhythmias with left and right bundle branch block patterns. url:https://pubmed.ncbi.nlm.nih.gov/31637441/ An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. MIM:620029 NEDHLSS disease_ontology DOID:0070536 There may be a distinction between patients with truncation mutations and those without, with the more severe phenotypes corresponding to the latter. neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures MIM:620029 DOID:0070536 An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. url:https://pubmed.ncbi.nlm.nih.gov/34163037/ NEDHLSS An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14. GARD:13425 MIM:616657 ORDO:447997 UMLS_CUI:C4225254 SPATCCM disease_ontology DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly GARD:13425 MIM:616657 ORDO:447997 UMLS_CUI:C4225254 DOID:0070537 An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14. url:https://pubmed.ncbi.nlm.nih.gov/25930971/ url:https://pubmed.ncbi.nlm.nih.gov/26138499/ SPATCCM A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1. GARD:13442 MIM:300986 NCI:C183311 UMLS_CUI:C4310814 HNRNPH2-RNDD HNRNPH2-related neurodevelopmental disorder MRXSB Mental Retardation, X-linked, Syndrome, Bain Type disease_ontology DOID:0070538 syndromic X-linked intellectual developmental disorder bain type GARD:13442 MIM:300986 NCI:C183311 UMLS_CUI:C4310814 DOID:0070538 A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1. url:https://pubmed.ncbi.nlm.nih.gov/27545675/ url:https://pubmed.ncbi.nlm.nih.gov/37372334/ url:https://www.ncbi.nlm.nih.gov/books/NBK584018/ HNRNPH2-RNDD MRXSB A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22. MIM:618651 HLBKS NEDSOSB NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES disease_ontology DOID:0070539 Tentative disease: two patients in one family have been identified to date [JAB, 2024-03-18]. Halperin-Birk syndrome MIM:618651 DOID:0070539 A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22. url:https://pubmed.ncbi.nlm.nih.gov/30464055/ HLBKS NEDSOSB A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3. GARD:13019 MIM:616277 NCI:C174218 ORDO:653880 UMLS_CUI:C4225391 ECHS1D disease_ontology DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency GARD:13019 MIM:616277 NCI:C174218 ORDO:653880 UMLS_CUI:C4225391 DOID:0070540 A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3. url:https://pubmed.ncbi.nlm.nih.gov/25125611/ url:https://www.ncbi.nlm.nih.gov/books/NBK542806/ ECHS1D An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11. GARD:8387 MESH:C538324 MIM:246450 NCI:C84523 ORDO:20 UMLS_CUI:C0268601 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency HMG-CoA lyase deficiency HMGCL deficiency HMGCLD hydroxymethylglutaric aciduria disease_ontology HL deficiency DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency GARD:8387 MESH:C538324 MIM:246450 NCI:C84523 ORDO:20 UMLS_CUI:C0268601 DOID:0070541 An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11. url:https://pubmed.ncbi.nlm.nih.gov/3128690/ HMGCLD An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common. MIM:616281 ORDO:477673 UMLS_CUI:C4225388 UMLS_CUI:C5567787 GPT2 deficiency MRT49 NEDSPM autosomal recessive mental retardation 49 glutamate pyruvate transaminase 2 deficiency disease_ontology DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly MIM:616281 ORDO:477673 UMLS_CUI:C4225388 UMLS_CUI:C5567787 DOID:0070542 An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common. url:https://pubmed.ncbi.nlm.nih.gov/29882329/ url:https://pubmed.ncbi.nlm.nih.gov/31471722/ MRT49 NEDSPM An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3. MIM:619121 NEDCASB disease_ontology DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MIM:619121 DOID:0070543 An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3. url:https://pubmed.ncbi.nlm.nih.gov/33015733/ NEDCASB An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3. GARD:9848 MIM:610015 ORDO:71278 GLND congenital systemic glutamine synthase deficiency disease_ontology DOID:0070544 congenital glutamine deficiency GARD:9848 MIM:610015 ORDO:71278 DOID:0070544 An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3. url:https://pubmed.ncbi.nlm.nih.gov/21353613/ GLND A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3. MIM:620806 DEE116 disease_ontology DOID:0070545 developmental and epileptic encephalopathy 116 MIM:620806 DOID:0070545 A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3. url:https://pubmed.ncbi.nlm.nih.gov/38579670/ DEE116 A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PRKAR1A gene on chromosome 17q24.2. MESH:C566469 MIM:610489 UMLS_CUI:C1864846 PPNAD1 disease_ontology DOID:0070546 primary pigmented nodular adrenocortical disease 1 MESH:C566469 MIM:610489 UMLS_CUI:C1864846 DOID:0070546 A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PRKAR1A gene on chromosome 17q24.2. url:https://pubmed.ncbi.nlm.nih.gov/12213893/ PPNAD1 A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE11A gene on chromosome 2q31.2. MESH:C566472 MIM:610475 UMLS_CUI:C1864851 PPNAD2 disease_ontology DOID:0070547 primary pigmented nodular adrenocortical disease 2 MESH:C566472 MIM:610475 UMLS_CUI:C1864851 DOID:0070547 A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE11A gene on chromosome 2q31.2. url:https://pubmed.ncbi.nlm.nih.gov/16767104/ PPNAD2 A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE8B gene on chromosome 5q13.3. MIM:614190 PPNAD3 disease_ontology DOID:0070548 primary pigmented nodular adrenocortical disease 3 MIM:614190 DOID:0070548 A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE8B gene on chromosome 5q13.3. url:https://pubmed.ncbi.nlm.nih.gov/18272904/ PPNAD3 A primary pigmented nodular adrenocortical disease that has_material_basis_in duplication on chromosome 19p13 that includes the PRKACA gene. MIM:615830 PPNAD4 chromosome 19p13 duplication syndrome disease_ontology DOID:0070549 primary pigmented nodular adrenocortical disease 4 MIM:615830 DOID:0070549 A primary pigmented nodular adrenocortical disease that has_material_basis_in duplication on chromosome 19p13 that includes the PRKACA gene. url:https://pubmed.ncbi.nlm.nih.gov/24571724 url:https://pubmed.ncbi.nlm.nih.gov/25924874/ PPNAD4 A nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. GARD:5186 MIM:600962 ORDO:530838 UMLS_CUI:C5680142 KRT1-related NEPPK disease_ontology DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma GARD:5186 MIM:600962 ORDO:530838 UMLS_CUI:C5680142 DOID:0070550 A nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. url:https://pubmed.ncbi.nlm.nih.gov/12406346/ url:https://pubmed.ncbi.nlm.nih.gov/7528239/ An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. MIM:620411 EPPK2 disease_ontology DOID:0070551 epidermolytic palmoplantar keratoderma 2 MIM:620411 DOID:0070551 An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. url:https://pubmed.ncbi.nlm.nih.gov/11286630/ url:https://pubmed.ncbi.nlm.nih.gov/37122192/ EPPK2 An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2. MIM:144200 EPPK1 disease_ontology DOID:0070552 epidermolytic palmoplantar keratoderma 1 MIM:144200 DOID:0070552 An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2. url:https://pubmed.ncbi.nlm.nih.gov/12192490/ url:https://pubmed.ncbi.nlm.nih.gov/30666268 EPPK1 A palmoplantar keratosis characterized by hyperkeratosis on the weight-bearing areas of the soles, pressure-related areas of the palms, and the labial- and lingual-attached gingiva. GARD:3098 MESH:C536157 MIM:148730 ORDO:2200 UMLS_CUI:C1835650 focal palmoplantar and gingival hyperkeratosis syndrome disease_ontology DOID:0070553 focal palmoplantar and gingival keratosis GARD:3098 MESH:C536157 MIM:148730 ORDO:2200 UMLS_CUI:C1835650 DOID:0070553 A palmoplantar keratosis characterized by hyperkeratosis on the weight-bearing areas of the soles, pressure-related areas of the palms, and the labial- and lingual-attached gingiva. url:https://pubmed.ncbi.nlm.nih.gov/133736/ url:https://pubmed.ncbi.nlm.nih.gov/15761417/ url:https://pubmed.ncbi.nlm.nih.gov/33262878/ A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2. MIM:616099 ORDO:420686 UMLS_CUI:C4015202 UMLS_CUI:C4706686 PPKWH keratoderma with woolly hair type IV woolly hair-palmoplantar keratoderma syndrome type 4 disease_ontology DOID:0070554 palmoplantar keratoderma and woolly hair MIM:616099 ORDO:420686 UMLS_CUI:C4015202 UMLS_CUI:C4706686 DOID:0070554 A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2. url:https://pubmed.ncbi.nlm.nih.gov/24671081/ url:https://pubmed.ncbi.nlm.nih.gov/35283492 PPKWH A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33. MIM:615598 ORDO:140966 UMLS_CUI:C3810072 NPPK PPKN palmoplantar keratoderma nagashima type disease_ontology DOID:0070555 Nagashima-type palmoplantar keratosis MIM:615598 ORDO:140966 UMLS_CUI:C3810072 DOID:0070555 A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33. url:https://pubmed.ncbi.nlm.nih.gov/24207119/ url:https://pubmed.ncbi.nlm.nih.gov/24773080/ url:https://pubmed.ncbi.nlm.nih.gov/35178744/ NPPK PPKN A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2. MIM:224050 UMLS_CUI:C4551552 CAMRQ syndrome 1 CAMRQ1 DES-VLDLR VLDLR cerebellar hypoplasia VLDLR-CH VLDLR-associated cerebellar hypoplasia cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1 cerebellar ataxia, mental retardation, and disequilibrium syndrome 1 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 cerebellar hypoplasia, VLDLR-associated dysequilibrium syndrome-VLDLR disease_ontology DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 MIM:224050 UMLS_CUI:C4551552 DOID:0070556 A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2. url:https://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia/ url:https://pubmed.ncbi.nlm.nih.gov/21885617/ url:https://pubmed.ncbi.nlm.nih.gov/27000652/ url:https://www.ncbi.nlm.nih.gov/books/NBK1874/ CAMRQ1 DES-VLDLR VLDLR-CH A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3. MESH:C567656 MIM:610185 UMLS_CUI:C2750234 CAMRQ syndrome 2 CAMRQ2 cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2 cerebellar ataxia, mental retardation, and disequilibrium syndrome 2 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 disease_ontology DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 MESH:C567656 MIM:610185 UMLS_CUI:C2750234 DOID:0070557 A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3. url:https://pubmed.ncbi.nlm.nih.gov/21885617/ url:https://pubmed.ncbi.nlm.nih.gov/22686558/ CAMRQ2 An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1. MESH:C567690 MIM:613227 UMLS_CUI:C2750509 CAMRQ syndrome 3 CAMRQ3 SCAR34 cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 cerebellar ataxia, mental retardation, and disequilibrium syndrome 3 spinocerebellar ataxia, autosomal recessive 34 disease_ontology DOID:0070558 Revising nomeclature 2024, OMIM update.[LS] autosomal recessive spinocerebellar ataxia 34 DOID:0070558 An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1. url:https://pubmed.ncbi.nlm.nih.gov/19461874/ url:https://pubmed.ncbi.nlm.nih.gov/32808436/ url:https://pubmed.ncbi.nlm.nih.gov/38581205/ CAMRQ3 SCAR34 A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13. MIM:615268 CAMRQ syndrome 4 CAMRQ4 cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4 cerebellar ataxia, mental retardation, and disequilibrium syndrome 4 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 disease_ontology DOID:0070559 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 MIM:615268 DOID:0070559 A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13. url:https://pubmed.ncbi.nlm.nih.gov/22892528/ url:https://pubmed.ncbi.nlm.nih.gov/31612321/ CAMRQ4 A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 on chromosome 1p34.2. MESH:C536830 MIM:PS606777 UMLS_CUI:C1847501 GLUT1DS disease_ontology DOID:0070560 glucose transporter type 1 deficiency syndrome MESH:C536830 MIM:PS606777 UMLS_CUI:C1847501 DOID:0070560 A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 on chromosome 1p34.2. url:https://pubmed.ncbi.nlm.nih.gov/31605543/ url:https://pubmed.ncbi.nlm.nih.gov/36315575/ url:https://www.ncbi.nlm.nih.gov/books/NBK1430/ GLUT1DS A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders. GARD:9265 MIM:606777 ORDO:71277 UMLS_CUI:C4551966 De Vivo disease GLUT1 deficiency syndrome 1 GLUT1DS1 classic GLUT1 deficiency syndrome classic GLUT1-DS classic glucose transporter type 1 deficiency syndrome encephalopathy due to GLUT1 deficiency disease_ontology DOID:0070561 glucose transporter type 1 deficiency syndrome 1 GARD:9265 MIM:606777 ORDO:71277 UMLS_CUI:C4551966 DOID:0070561 A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders. url:https://pubmed.ncbi.nlm.nih.gov/36315575/ url:https://www.ncbi.nlm.nih.gov/books/NBK1430/ GLUT1DS1 A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2. GARD:2268 MESH:D005198 MIM:227810 NCI:C168998 ORDO:2088 UMLS_CUI:C3495427 FBS glycogen storage disease XI glycogenosis type XI glycogenosis, Fanconi type disease_ontology DOID:0070562 glycogenosis type XI is a historical and now discouraged synonym. Fanconi-Bickel syndrome GARD:2268 MESH:D005198 MIM:227810 NCI:C168998 ORDO:2088 UMLS_CUI:C3495427 DOID:0070562 A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2. url:https://pubmed.ncbi.nlm.nih.gov/3153325/ FBS A glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that has_material_basis_in homozygous mutation in the SLC5A1 gene on chromosome 22q12.3. GARD:6521 MESH:C562602 MIM:606824 ORDO:35710 UMLS_CUI:C0268186 GGM SGLT1 deficiency monosaccharide malabsorption disease_ontology DOID:0070563 glucose-galactose malabsorption GARD:6521 MESH:C562602 MIM:606824 ORDO:35710 UMLS_CUI:C0268186 DOID:0070563 A glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that has_material_basis_in homozygous mutation in the SLC5A1 gene on chromosome 22q12.3. url:https://pubmed.ncbi.nlm.nih.gov/20486940/ GGM A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma. NCI:C114781 UMLS_CUI:C0403559 DDS dialysis dysequilibrium syndrome disease_ontology disequilibrium syndrome dysequilibrium syndrome DOID:0070564 dialysis disequilibrium syndrome NCI:C114781 UMLS_CUI:C0403559 DOID:0070564 A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma. url:https://pubmed.ncbi.nlm.nih.gov/26120445 url:https://www.ncbi.nlm.nih.gov/books/NBK559018/ DDS A spermatogenic failure characterized by total globozoospermia that has_material_basis_in homozygous mutation in the ZPBP gene on chromosome 7p12.2. MIM:619799 SPGF66 disease_ontology DOID:0070565 Only 1 patient reported as of 2024-08-21. spermatogenic failure 66 MIM:619799 DOID:0070565 A spermatogenic failure characterized by total globozoospermia that has_material_basis_in homozygous mutation in the ZPBP gene on chromosome 7p12.2. url:https://pubmed.ncbi.nlm.nih.gov/31985809/ SPGF66 A spermatogenic failure characterized by globozoospermia that has_material_basis_in homozygous mutation in the CCDC62 gene on chromosome 12q24.31. MIM:619803 SPGF67 disease_ontology DOID:0070566 Only 1 patient reported as of 2024-08-21. spermatogenic failure 67 MIM:619803 DOID:0070566 A spermatogenic failure characterized by globozoospermia that has_material_basis_in homozygous mutation in the CCDC62 gene on chromosome 12q24.31. url:https://pubmed.ncbi.nlm.nih.gov/31985809/ SPGF67 A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the C2CD6 gene on chromosome 2q33.1. MIM:619805 SPGF68 disease_ontology DOID:0070567 Only 1 patient reported as of 2024-08-21. spermatogenic failure 68 MIM:619805 DOID:0070567 A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the C2CD6 gene on chromosome 2q33.1. url:https://pubmed.ncbi.nlm.nih.gov/31985809/ SPGF68 A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the GGN on chromosome 19q13.2. MIM:619826 SPGF69 disease_ontology DOID:0070568 spermatogenic failure 69 MIM:619826 DOID:0070568 A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the GGN on chromosome 19q13.2. url:https://pubmed.ncbi.nlm.nih.gov/31985809/ url:https://pubmed.ncbi.nlm.nih.gov/33108537/ SPGF69 A spermatogenic failure characterized by azoospermia or sperm immotility and necrozoospermia that has_material_basis_in homozygous mutation in the PDHA2 gene on chromosome 4q22.3. MIM:619828 SPGF70 disease_ontology DOID:0070569 spermatogenic failure 70 MIM:619828 DOID:0070569 A spermatogenic failure characterized by azoospermia or sperm immotility and necrozoospermia that has_material_basis_in homozygous mutation in the PDHA2 gene on chromosome 4q22.3. url:https://pubmed.ncbi.nlm.nih.gov/29581481/ url:https://pubmed.ncbi.nlm.nih.gov/35172124/ SPGF70 A spermatogenic failure characterized by nonobstructive azoospermia that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12. MIM:619831 SPGF71 disease_ontology DOID:0070570 spermatogenic failure 71 MIM:619831 DOID:0070570 A spermatogenic failure characterized by nonobstructive azoospermia that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12. url:https://pubmed.ncbi.nlm.nih.gov/32719396/ url:https://pubmed.ncbi.nlm.nih.gov/33713115/ SPGF71 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in lack of sperm motility, that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. MIM:619867 SPGF72 disease_ontology DOID:0070571 Only 1 patient reported as of 2024-08-21. spermatogenic failure 72 MIM:619867 DOID:0070571 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in lack of sperm motility, that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. url:https://pubmed.ncbi.nlm.nih.gov/32323121/ SPGF72 A spermatogenic failure characterized by nonobstructive azoospermia due to meiotic arrest that has_material_basis_in homozygous or compound heterozygous mutation in the MOV10L1 gene on chromosome 22q13.33. MIM:619878 SPGF73 disease_ontology DOID:0070572 spermatogenic failure 73 MIM:619878 DOID:0070572 A spermatogenic failure characterized by nonobstructive azoospermia due to meiotic arrest that has_material_basis_in homozygous or compound heterozygous mutation in the MOV10L1 gene on chromosome 22q13.33. url:https://pubmed.ncbi.nlm.nih.gov/35476666/ SPGF73 A spermatogenic failure characterized by nonobstructive azoospermia due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21.33. MIM:619937 SPGF74 disease_ontology DOID:0070573 spermatogenic failure 74 MIM:619937 DOID:0070573 A spermatogenic failure characterized by nonobstructive azoospermia due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21.33. url:https://pubmed.ncbi.nlm.nih.gov/34755185/ SPGF74 A spermatogenic failure characterized by nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the SHOC1 gene on chromosome 9q31.3. MIM:619949 SPGF75 disease_ontology DOID:0070574 spermatogenic failure 75 MIM:619949 DOID:0070574 A spermatogenic failure characterized by nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the SHOC1 gene on chromosome 9q31.3. url:https://pubmed.ncbi.nlm.nih.gov/32741963/ url:https://pubmed.ncbi.nlm.nih.gov/32900840/ SPGF75 A spermatogenic failure characterized by oligoasthenoteratozoospermia that has_material_basis_in homozygous mutation in the CCDC34 gene on chromosome 11p14.1. MIM:620084 SPGF76 disease_ontology DOID:0070575 spermatogenic failure 76 MIM:620084 DOID:0070575 A spermatogenic failure characterized by oligoasthenoteratozoospermia that has_material_basis_in homozygous mutation in the CCDC34 gene on chromosome 11p14.1. url:https://pubmed.ncbi.nlm.nih.gov/34348960/ url:https://pubmed.ncbi.nlm.nih.gov/38856307/ SPGF76 A spermatogenic failure characterized by extreme oligozoospermia or azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP6 gene on chromosome 7q11.23. MIM:620103 SPGF77 disease_ontology DOID:0070576 spermatogenic failure 77 MIM:620103 DOID:0070576 A spermatogenic failure characterized by extreme oligozoospermia or azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP6 gene on chromosome 7q11.23. url:https://pubmed.ncbi.nlm.nih.gov/36150389/ SPGF77 A spermatogenic failure characterized by sperm with abnormal acrosome structure due to a manchette assembly defect that has_material_basis_in homozygous mutation in the IQCN gene on chromosome 19p13.11. MIM:620170 SPGF78 disease_ontology DOID:0070577 spermatogenic failure 78 MIM:620170 DOID:0070577 A spermatogenic failure characterized by sperm with abnormal acrosome structure due to a manchette assembly defect that has_material_basis_in homozygous mutation in the IQCN gene on chromosome 19p13.11. url:https://pubmed.ncbi.nlm.nih.gov/36321563/ SPGF78 A spermatogenic failure characterized by an abnormal acrosome reaction and impaired membrane potential after capacitation that has_material_basis_in homozygous mutation in the KCNU1 gene on chromosome 8p11.23. MIM:620196 SPGF79 disease_ontology DOID:0070578 spermatogenic failure 79 MIM:620196 DOID:0070578 A spermatogenic failure characterized by an abnormal acrosome reaction and impaired membrane potential after capacitation that has_material_basis_in homozygous mutation in the KCNU1 gene on chromosome 8p11.23. url:https://pubmed.ncbi.nlm.nih.gov/34980136/ url:https://pubmed.ncbi.nlm.nih.gov/35551387/ SPGF79 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in reduced or absent progressive sperm motility, that has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.3. MIM:620222 SPGF80 disease_ontology DOID:0070579 spermatogenic failure 80 MIM:620222 DOID:0070579 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in reduced or absent progressive sperm motility, that has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.3. url:https://pubmed.ncbi.nlm.nih.gov/34169321/ SPGF80 A spermatogenic failure characterized by oligoasthenoteratozoospermia with acrosomal hypoplasia and detachment of the acrosome from the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the TEKT3 gene on chromosome 17p12. MIM:620277 SPGF81 disease_ontology DOID:0070580 spermatogenic failure 81 MIM:620277 DOID:0070580 A spermatogenic failure characterized by oligoasthenoteratozoospermia with acrosomal hypoplasia and detachment of the acrosome from the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the TEKT3 gene on chromosome 17p12. url:https://pubmed.ncbi.nlm.nih.gov/36708031/ SPGF81 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella that has_material_basis_in homozygous mutation in the AKAP3 gene on chromosome 12p13.32. MIM:620353 SPGF82 disease_ontology DOID:0070581 spermatogenic failure 82 MIM:620353 DOID:0070581 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella that has_material_basis_in homozygous mutation in the AKAP3 gene on chromosome 12p13.32. url:https://pubmed.ncbi.nlm.nih.gov/35228300/ SPGF82 A spermatogenic failure characterized by asthenozoospermia and multiple flagella morphological defects due to loss in the inner dynein arms that has_material_basis_in homozygous mutation in the DNALI1 gene on chromosome 1p34.3. MIM:620354 SPGF83 disease_ontology DOID:0070582 spermatogenic failure 83 MIM:620354 DOID:0070582 A spermatogenic failure characterized by asthenozoospermia and multiple flagella morphological defects due to loss in the inner dynein arms that has_material_basis_in homozygous mutation in the DNALI1 gene on chromosome 1p34.3. url:https://pubmed.ncbi.nlm.nih.gov/36726469/ url:https://pubmed.ncbi.nlm.nih.gov/36792588/ SPGF83 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced motility, that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP61 gene on chromosome 20p11.23. MIM:620409 SPGF84 disease_ontology DOID:0070583 spermatogenic failure 84 MIM:620409 DOID:0070583 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced motility, that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP61 gene on chromosome 20p11.23. url:https://pubmed.ncbi.nlm.nih.gov/34792097/ url:https://pubmed.ncbi.nlm.nih.gov/35387802/ SPGF84 A spermatogenic failure characterized by globozoospermia and reduced progressive motility that has_material_basis_in homozygous mutation in the SPACA1 gene on chromosome 6q15. MIM:620490 SPGF85 disease_ontology DOID:0070584 Only 1 family reported as of 2024-08-21. spermatogenic failure 85 MIM:620490 DOID:0070584 A spermatogenic failure characterized by globozoospermia and reduced progressive motility that has_material_basis_in homozygous mutation in the SPACA1 gene on chromosome 6q15. url:https://pubmed.ncbi.nlm.nih.gov/34172998/ SPGF85 A spermatogenic failure characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure, that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL7A gene on chromosome 9q31.3. MIM:620499 SPGF86 disease_ontology DOID:0070585 spermatogenic failure 86 MIM:620499 DOID:0070585 A spermatogenic failure characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure, that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL7A gene on chromosome 9q31.3. url:https://pubmed.ncbi.nlm.nih.gov/32923619/ url:https://pubmed.ncbi.nlm.nih.gov/34727571/ SPGF86 A spermatogenic failure characterized by total fertilization failure due to inability of mutant sperm to penetrate the zona pellucida that has_material_basis_in homozygous mutation in the ACR gene on chromosome 22q13.33. MIM:620500 SPGF87 disease_ontology DOID:0070586 Only 1 family reported as of 2024-08-21. spermatogenic failure 87 MIM:620500 DOID:0070586 A spermatogenic failure characterized by total fertilization failure due to inability of mutant sperm to penetrate the zona pellucida that has_material_basis_in homozygous mutation in the ACR gene on chromosome 22q13.33. url:https://pubmed.ncbi.nlm.nih.gov/37004249/ SPGF87 A spermatogenic failure characterized by nonobstructive azoospermia due to prepachytene meiotic arrest of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13.33. MIM:620547 SPGF88 disease_ontology DOID:0070587 spermatogenic failure 88 MIM:620547 DOID:0070587 A spermatogenic failure characterized by nonobstructive azoospermia due to prepachytene meiotic arrest of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13.33. url:https://pubmed.ncbi.nlm.nih.gov/35587281/ url:https://pubmed.ncbi.nlm.nih.gov/35674372/ SPGF88 A spermatogenic failure characterized by severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the AK9 gene on chromosome 6q21. MIM:620705 SPGF89 disease_ontology DOID:0070588 spermatogenic failure 89 MIM:620705 DOID:0070588 A spermatogenic failure characterized by severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the AK9 gene on chromosome 6q21. url:https://pubmed.ncbi.nlm.nih.gov/37713809/ SPGF89 A spermatogenic failure characterized by asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC12 gene on chromosome 6p21.31. MIM:620744 SPGF90 disease_ontology DOID:0070589 spermatogenic failure 90 MIM:620744 DOID:0070589 A spermatogenic failure characterized by asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC12 gene on chromosome 6p21.31. url:https://pubmed.ncbi.nlm.nih.gov/35534203/ SPGF90 A spermatogenic failure characterized by teratozoospermia, consisting of a misshapen rounded sperm head and detachment of the acrosome, and sperm that fail to attach to the zona pellucida that has_material_basis_in homozygous or compound heterozygous mutation in the CCIN gene on chromosome 9p13.3. MIM:620838 SPGF91 disease_ontology DOID:0070590 spermatogenic failure 91 MIM:620838 DOID:0070590 A spermatogenic failure characterized by teratozoospermia, consisting of a misshapen rounded sperm head and detachment of the acrosome, and sperm that fail to attach to the zona pellucida that has_material_basis_in homozygous or compound heterozygous mutation in the CCIN gene on chromosome 9p13.3. url:https://pubmed.ncbi.nlm.nih.gov/31985809/ url:https://pubmed.ncbi.nlm.nih.gov/36546111/ SPGF91 A spermatogenic failure characterized by asthenozoospermia that has_material_basis_in homozygous mutation in the LRRC23 gene on chromosome 12p13.31. MIM:620848 SPGF92 disease_ontology DOID:0070591 spermatogenic failure 92 MIM:620848 DOID:0070591 A spermatogenic failure characterized by asthenozoospermia that has_material_basis_in homozygous mutation in the LRRC23 gene on chromosome 12p13.31. url:https://pubmed.ncbi.nlm.nih.gov/37804054/ url:https://pubmed.ncbi.nlm.nih.gov/38091523/ SPGF92 A spermatogenic failure characterized by nonosbtructive azoospermia or multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the STK33 gene on chromosome 11p15.4. MIM:620849 SPGF93 disease_ontology DOID:0070592 spermatogenic failure 93 MIM:620849 DOID:0070592 A spermatogenic failure characterized by nonosbtructive azoospermia or multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the STK33 gene on chromosome 11p15.4. url:https://pubmed.ncbi.nlm.nih.gov/34155512/ SPGF93 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CCDC146 gene on chromosome 7q11.23. MIM:620850 SPGF94 disease_ontology DOID:0070593 spermatogenic failure 94 MIM:620850 DOID:0070593 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CCDC146 gene on chromosome 7q11.23. url:https://pubmed.ncbi.nlm.nih.gov/38441556/ SPGF94 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CFAP57 gene on chromosome 1p34.2. MIM:620917 SPGF95 disease_ontology DOID:0070594 spermatogenic failure 95 MIM:620917 DOID:0070594 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CFAP57 gene on chromosome 1p34.2. url:https://pubmed.ncbi.nlm.nih.gov/36752199/ SPGF95 A spermatogenic failure characterized by azoospermia or oligoasthenoteratozoospermia that has_material_basis_in hemizygous mutation in the GCNA gene on chromosome Xq13.1. MIM:301077 SPGFX4 disease_ontology DOID:0070595 X-linked spermatogenic failure 4 MIM:301077 DOID:0070595 A spermatogenic failure characterized by azoospermia or oligoasthenoteratozoospermia that has_material_basis_in hemizygous mutation in the GCNA gene on chromosome Xq13.1. url:https://pubmed.ncbi.nlm.nih.gov/33963445/ url:https://pubmed.ncbi.nlm.nih.gov/34413498/ url:https://pubmed.ncbi.nlm.nih.gov/35172124/ SPGFX4 A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the SSX1 gene on chromosome Xp11.23. MIM:301099 SPGFX5 disease_ontology DOID:0070596 X-linked spermatogenic failure 5 MIM:301099 DOID:0070596 A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the SSX1 gene on chromosome Xp11.23. url:https://pubmed.ncbi.nlm.nih.gov/36796361/ SPGFX5 A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the USP26 gene on chromosome Xq26.2. MIM:301101 SPGFX6 disease_ontology DOID:0070597 X-linked spermatogenic failure 6 MIM:301101 DOID:0070597 A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the USP26 gene on chromosome Xq26.2. url:https://pubmed.ncbi.nlm.nih.gov/34202084/ SPGFX6 A spermatogenic failure characterized by sperm with insufficient individualization, excessive residual cytoplasm, acrosome defects, and abnormalities of the head and flagella, resulting in significantly reduced sperm concentration and progressive motility, that has_material_basis_in hemizygous mutation in the CT55 gene on chromosome Xq26.3. MIM:301106 SPGFX7 disease_ontology DOID:0070598 Only 1 family reported as of 2024-08-21. X-linked spermatogenic failure 7 MIM:301106 DOID:0070598 A spermatogenic failure characterized by sperm with insufficient individualization, excessive residual cytoplasm, acrosome defects, and abnormalities of the head and flagella, resulting in significantly reduced sperm concentration and progressive motility, that has_material_basis_in hemizygous mutation in the CT55 gene on chromosome Xq26.3. url:https://pubmed.ncbi.nlm.nih.gov/36481789/ SPGFX7 A spermatogenic failure characterized by sperm with head and midpiece defects, deformed and detached acrosomes, and markedly reduced progressive motility that has_material_basis_in hemizygous mutation in the CYLC1 gene on chromosome Xq21.1. MIM:301119 SPGFX8 disease_ontology DOID:0070599 X-linked spermatogenic failure 8 MIM:301119 DOID:0070599 A spermatogenic failure characterized by sperm with head and midpiece defects, deformed and detached acrosomes, and markedly reduced progressive motility that has_material_basis_in hemizygous mutation in the CYLC1 gene on chromosome Xq21.1. url:https://pubmed.ncbi.nlm.nih.gov/38013430/ url:https://pubmed.ncbi.nlm.nih.gov/38573307/ SPGFX8 A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 on chromosome 12p12. MIM:619719 ABCC9-related intellectual disability and myopathy AIMS IDMYS disease_ontology DOID:0070600 intellectual disability and myopathy syndrome MIM:619719 DOID:0070600 A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 on chromosome 12p12. url:https://pubmed.ncbi.nlm.nih.gov/31575858/ url:https://pubmed.ncbi.nlm.nih.gov/38217872/ AIMS IDMYS An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.1. MIM:618533 DFNA37 autosomal dominant deafness 37 disease_ontology DOID:0070601 autosomal dominant nonsyndromic deafness 37 MIM:618533 DOID:0070601 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.1. url:https://pubmed.ncbi.nlm.nih.gov/30245514/ url:https://pubmed.ncbi.nlm.nih.gov/33169910/ url:https://pubmed.ncbi.nlm.nih.gov/33605226/ DFNA37 An autosomal dominant nonsyndromic deafness characterized by congenital deafness associated with absent or malformed cochleae and eighth cranial nerves that has_material_basis_in heterozygous mutation in the GREB1L gene on chromosome 18q11. MIM:619274 DFNA80 autosomal dominant deafness 80 disease_ontology DOID:0070602 autosomal dominant nonsyndromic deafness 80 MIM:619274 DOID:0070602 An autosomal dominant nonsyndromic deafness characterized by congenital deafness associated with absent or malformed cochleae and eighth cranial nerves that has_material_basis_in heterozygous mutation in the GREB1L gene on chromosome 18q11. url:https://pubmed.ncbi.nlm.nih.gov/29955957/ url:https://pubmed.ncbi.nlm.nih.gov/32585897/ DFNA80 An autosomal dominant nonsyndromic deafness characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade that has_material_basis_in heterozygous mutation in the ATP2B2 gene on chromosome 3p25.1. MIM:619804 DFNA82 autosomal dominant deafness 82 disease_ontology DOID:0070603 autosomal dominant nonsyndromic deafness 82 MIM:619804 DOID:0070603 An autosomal dominant nonsyndromic deafness characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade that has_material_basis_in heterozygous mutation in the ATP2B2 gene on chromosome 3p25.1. url:https://pubmed.ncbi.nlm.nih.gov/30535804/ DFNA82 An autosomal dominant nonsyndromic deafness characterized by bilateral, progressive sensorineural hearing loss with variable onset and audiogram shape that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. MIM:619810 DFNA84 autosomal dominant deafness 84 disease_ontology DOID:0070604 autosomal dominant nonsyndromic deafness 84 MIM:619810 DOID:0070604 An autosomal dominant nonsyndromic deafness characterized by bilateral, progressive sensorineural hearing loss with variable onset and audiogram shape that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. url:https://pubmed.ncbi.nlm.nih.gov/35278131/ DFNA84 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the USP48 gene on chromosome 1p36. MIM:620227 DFNA85 autosomal dominant deafness 85 disease_ontology DOID:0070605 autosomal dominant nonsyndromic deafness 85 MIM:620227 DOID:0070605 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the USP48 gene on chromosome 1p36. url:https://pubmed.ncbi.nlm.nih.gov/34059922/ DFNA85 An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21. MIM:620281 DFNA87 autosomal dominant deafness 87 disease_ontology DOID:0070606 autosomal dominant nonsyndromic deafness 87 MIM:620281 DOID:0070606 An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21. url:https://pubmed.ncbi.nlm.nih.gov/33358777/ DFNA87 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MYO3A gene on chromosome 10p12. MIM:620722 DFNA90 autosomal dominant deafness 90 disease_ontology DOID:0070607 autosomal dominant nonsyndromic deafness 90 MIM:620722 DOID:0070607 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MYO3A gene on chromosome 10p12. url:https://pubmed.ncbi.nlm.nih.gov/29880844/ url:https://pubmed.ncbi.nlm.nih.gov/32519820/ DFNA90 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ELMOD3 gene on chromosome 2p11. MIM:619500 DFNA81 autosomal dominant deafness 81 disease_ontology DOID:0070608 Only one family reported as of 2024-09-20. autosomal dominant nonsyndromic deafness 81 MIM:619500 DOID:0070608 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ELMOD3 gene on chromosome 2p11. url:https://pubmed.ncbi.nlm.nih.gov/29713870/ DFNA81 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13. MIM:619808 DFNA83 autosomal dominant deafness 83 disease_ontology DOID:0070609 Only one family reported as of 2024-09-20. autosomal dominant nonsyndromic deafness 83 MIM:619808 DOID:0070609 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13. url:https://pubmed.ncbi.nlm.nih.gov/33268592/ DFNA83 An autosomal dominant nonsyndromic deafness characterized by late-onset progressive hearing loss through p53-mediated hair cell apoptosis that has_material_basis_in heterozygous mutation in the THOC1 gene on chromosome 18p11. MIM:620280 DFNA86 autosomal dominant deafness 86 disease_ontology DOID:0070610 Only one family reported as of 2024-09-20. autosomal dominant nonsyndromic deafness 86 MIM:620280 DOID:0070610 An autosomal dominant nonsyndromic deafness characterized by late-onset progressive hearing loss through p53-mediated hair cell apoptosis that has_material_basis_in heterozygous mutation in the THOC1 gene on chromosome 18p11. url:https://pubmed.ncbi.nlm.nih.gov/32776944/ DFNA86 An autosomal dominant nonsyndromic deafness characterized by postlingual progressive severe sensorineural hearing loss with tinnitus that has_material_basis_in heterozygous mutation in the EPHA10 gene on chromosome 1p34. MIM:620283 DFNA88 autosomal dominant deafness 88 disease_ontology DOID:0070611 Only one family reported as of 2024-09-20. autosomal dominant nonsyndromic deafness 88 MIM:620283 DOID:0070611 An autosomal dominant nonsyndromic deafness characterized by postlingual progressive severe sensorineural hearing loss with tinnitus that has_material_basis_in heterozygous mutation in the EPHA10 gene on chromosome 1p34. url:https://pubmed.ncbi.nlm.nih.gov/21651318/ url:https://pubmed.ncbi.nlm.nih.gov/36048850/ DFNA88 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ATOH1 gene on chromosome 4q22. MIM:620284 DFNA89 autosomal dominant deafness 89 disease_ontology DOID:0070612 Only one family reported as of 2024-09-20. autosomal dominant nonsyndromic deafness 89 MIM:620284 DOID:0070612 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ATOH1 gene on chromosome 4q22. url:https://pubmed.ncbi.nlm.nih.gov/33111345/ DFNA89 A renal glycosuria that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2. GARD:7548 MESH:D006030 MIM:233100 ORDO:69076 SNOMEDCT_US_2023_03_01:226309007 UMLS_CUI:C3245525 FRG SGLT2 deficiency familial renal glycosuria hereditary renal glycosuria disease_ontology DOID:0070613 familial renal glucosuria GARD:7548 MESH:D006030 MIM:233100 ORDO:69076 SNOMEDCT_US_2023_03_01:226309007 UMLS_CUI:C3245525 DOID:0070613 A renal glycosuria that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2. url:https://pubmed.ncbi.nlm.nih.gov/19965550/ url:https://pubmed.ncbi.nlm.nih.gov/30942416/ FRG A chromosomal duplication syndrome that has_material_basis_in one or more extra copies of a region of chromosome 11. ORDO:262653 SNOMEDCT_US_2023_03_01:726350006 UMLS_CUI:C4518499 partial duplication of chromosome 11 partial trisomy 11 disease_ontology DOID:0070614 chromosome 11 partial duplication syndrome ORDO:262653 SNOMEDCT_US_2023_03_01:726350006 UMLS_CUI:C4518499 DOID:0070614 A chromosomal duplication syndrome that has_material_basis_in one or more extra copies of a region of chromosome 11. url:https://medlineplus.gov/genetics/chromosome/11/ An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in PLCG2 on chromosome 16q23. GARD:17486 MIM:614878 ORDO:324530 UMLS_CUI:C3553961 APLAID autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation disease_ontology DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome GARD:17486 MIM:614878 ORDO:324530 UMLS_CUI:C3553961 DOID:0070615 An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in PLCG2 on chromosome 16q23. url:https://pubmed.ncbi.nlm.nih.gov/23000145/ url:https://pubmed.ncbi.nlm.nih.gov/30619256/ APLAID A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24. MIM:605899 GCE1 disease_ontology DOID:0070616 glycine encephalopathy 1 MIM:605899 DOID:0070616 A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24. url:https://medlineplus.gov/genetics/condition/nonketotic-hyperglycinemia/ url:https://www.ncbi.nlm.nih.gov/books/NBK1357/ GCE1 A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children. MIM:PS609322 NCI:C93268 ORDO:231108 UMLS_CUI:C2985524 RTPS familial posterior fossa brain tumor syndrome of infancy rhabdoid predisposition syndrome disease_ontology DOID:0070617 rhabdoid tumor predisposition syndrome MIM:PS609322 NCI:C93268 ORDO:231108 UMLS_CUI:C2985524 DOID:0070617 A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children. url:https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome/ url:https://www.ncbi.nlm.nih.gov/books/NBK469816/ RTPS A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11. MIM:609322 RTPS1 disease_ontology DOID:0070618 rhabdoid tumor predisposition syndrome 1 MIM:609322 DOID:0070618 A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11. url:https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome/ url:https://www.ncbi.nlm.nih.gov/books/NBK469816/ RTPS1 A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3. MIM:609015 MTPD1 disease_ontology DOID:0070619 mitochondrial trifunctional protein deficiency 1 MIM:609015 DOID:0070619 A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3. url:https://pubmed.ncbi.nlm.nih.gov/12754706/ MTPD1 A chromosomal disease that has_material_basis_in chromosome fusion into a ring or ring-like structure. Ring chromosome syndrome phenotypes are inherently variable. ICD10CM:Q93.2 MESH:D012303 ORDO:363203 UMLS_CUI:C0035639 ring syndrome disease_ontology RC ring chromosome DOID:0070620 ring chromosome syndrome MESH:D012303 UMLS_CUI:C0035639 ICD10CM:Q93.2 ORDO:363203 DOID:0070620 A chromosomal disease that has_material_basis_in chromosome fusion into a ring or ring-like structure. Ring chromosome syndrome phenotypes are inherently variable. url:https://en.wikipedia.org/wiki/Ring_chromosome url:https://pmc.ncbi.nlm.nih.gov/articles/PMC9519620/ url:https://rarechromo.org/glossary/ RC A ring chromosome syndrome characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features that has_material_basis_in chromosome 14 fusion into a ring or ring-like structure. GARD:6072 MESH:C535487 MIM:616606 ORDO:1440 UMLS_CUI:C2930916 r(14) syndrome r14 syndrome ring 14 syndrome disease_ontology ring 14 ring chromosome 14 DOID:0070621 ring chromosome 14 syndrome GARD:6072 MESH:C535487 MIM:616606 ORDO:1440 UMLS_CUI:C2930916 DOID:0070621 A ring chromosome syndrome characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features that has_material_basis_in chromosome 14 fusion into a ring or ring-like structure. url:https://medlineplus.gov/genetics/condition/ring-chromosome-14-syndrome/ url:https://pmc.ncbi.nlm.nih.gov/articles/PMC5387247/ url:https://pubmed.ncbi.nlm.nih.gov/23610869/ url:https://pubmed.ncbi.nlm.nih.gov/24116895/ A ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes that has_material_basis_in chromosome 20 fusion into a ring or ring-like structure. GARD:1334 MESH:C580424 NCI:C169001 ORDO:1444 UMLS_CUI:C0265482 r(20) syndrome r20 syndrome ring 20 syndrome ring chromosome 20 epilepsy syndrome disease_ontology ring 20 ring chromosome 20 DOID:0070622 ring chromosome 20 syndrome GARD:1334 MESH:C580424 NCI:C169001 ORDO:1444 UMLS_CUI:C0265482 DOID:0070622 A ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes that has_material_basis_in chromosome 20 fusion into a ring or ring-like structure. url:https://medlineplus.gov/genetics/condition/ring-chromosome-20-syndrome/ url:https://pubmed.ncbi.nlm.nih.gov/33363513/ A B-lymphoblastic leukemia/lymphoma associated with MEF2D gene rearrangement. ICDO:9811/3 NCI:C199233 UMLS_CUI:C5855479 B-lymphoblastic leukaemia with MEF2D rearrangement disease_ontology DOID:0070623 B-lymphoblastic leukemia with MEF2D rearrangement ICDO:9811/3 NCI:C199233 UMLS_CUI:C5855479 DOID:0070623 A B-lymphoblastic leukemia/lymphoma associated with MEF2D gene rearrangement. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C199233 url:https://pubmed.ncbi.nlm.nih.gov/38990294/ A B-lymphoblastic leukemia/lymphoma associated with MYC gene rearrangement. ICDO:9811/3 NCI:C199230 UMLS_CUI:C5855476 B Acute Lymphoblastic Leukemia with MEF2D Rearrangement B-lymphoblastic leukaemia with MYC rearrangement disease_ontology DOID:0070624 B-lymphoblastic leukemia with MYC rearrangement ICDO:9811/3 NCI:C199230 UMLS_CUI:C5855476 DOID:0070624 A B-lymphoblastic leukemia/lymphoma associated with MYC gene rearrangement. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C199230 url:https://pubmed.ncbi.nlm.nih.gov/37120350/ A B-lymphoblastic leukemia/lymphoma associated with NUTM1 gene rearrangement. ICDO:9811/3 NCI:C199239 UMLS_CUI:C5855485 B-lymphoblastic leukaemia with NUTM1 rearrangement disease_ontology DOID:0070625 B-lymphoblastic leukemia with NUTM1 rearrangement ICDO:9811/3 NCI:C199239 UMLS_CUI:C5855485 DOID:0070625 A B-lymphoblastic leukemia/lymphoma associated with NUTM1 gene rearrangement. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C199239 url:https://pubmed.ncbi.nlm.nih.gov/37120350/ A B-lymphoblastic leukemia/lymphoma associated with PAX5 gene alteration, including rearrangements, point mutations, and intragenic lesions. ICDO:9811/3 NCI:C199264 UMLS_CUI:C5855502 B-Acute Lymphoblastic Leukemia with PAX5 Alteration B-lymphoblastic leukaemia with PAX5alt disease_ontology DOID:0070626 B-lymphoblastic leukemia with PAX5alt ICDO:9811/3 NCI:C199264 UMLS_CUI:C5855502 DOID:0070626 A B-lymphoblastic leukemia/lymphoma associated with PAX5 gene alteration, including rearrangements, point mutations, and intragenic lesions. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C199264 url:https://pubmed.ncbi.nlm.nih.gov/37120350/ A B-lymphoblastic leukemia/lymphoma associated with TCF3-HLF gene rearrangement. ICDO:9811/3 NCI:C200587 ORDO:641375 UMLS_CUI:C5816789 UMLS_CUI:C5856321 B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF Fusion B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF Rearrangement B-lymphoblastic leukaemia with TCF3::HLF fusion B-lymphoblastic leukemia with TCF3::HLF fusion disease_ontology DOID:0070627 B-lymphoblastic leukemia with TCF3-HLF fusion ICDO:9811/3 NCI:C200587 ORDO:641375 UMLS_CUI:C5816789 UMLS_CUI:C5856321 DOID:0070627 A B-lymphoblastic leukemia/lymphoma associated with TCF3-HLF gene rearrangement. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C200587 url:https://pmc.ncbi.nlm.nih.gov/articles/PMC3549381/ url:https://pubmed.ncbi.nlm.nih.gov/31305009/ url:https://pubmed.ncbi.nlm.nih.gov/37120350/ A B-lymphoblastic leukemia/lymphoma associated with ZNF384 gene rearrangement. ICDO:9811/3 NCI:C199234 UMLS_CUI:C5855480 B-lymphoblastic leukaemia with ZNF384 rearrangement disease_ontology DOID:0070628 B-lymphoblastic leukemia with ZNF384 rearrangement ICDO:9811/3 NCI:C199234 UMLS_CUI:C5855480 DOID:0070628 A B-lymphoblastic leukemia/lymphoma associated with ZNF384 gene rearrangement. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C199234 url:https://pubmed.ncbi.nlm.nih.gov/37120350/ An acute myeloid leukemia associated with CBFA2T3-GLIS2 chimeric oncogene. ICDO:9861/3 NCI:C132109 UMLS_CUI:C4329266 Acute Megakaryoblastic Leukemia with CBFA2T3-GLIS2 Acute myeloid leukaemia with CBFA2T3::GLIS2 fusion acute myeloid leukemia with CBFA2T3::GLIS2 fusion acute myeloid leukemia with inv(16)(p13q24) disease_ontology DOID:0070629 acute myeloid leukemia with CBFA2T3-GLIS2 fusion ICDO:9861/3 NCI:C132109 UMLS_CUI:C4329266 DOID:0070629 An acute myeloid leukemia associated with CBFA2T3-GLIS2 chimeric oncogene. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C132109 url:https://pubmed.ncbi.nlm.nih.gov/23045605/ url:https://pubmed.ncbi.nlm.nih.gov/23153540/ url:https://pubmed.ncbi.nlm.nih.gov/30592296/ An acute myeloid leukemia associated with KAT6A-CREBBP gene fusion. ICDO:9861/3 NCI:C200421 ORDO:370026 UMLS_CUI:C4511003 Acute myeloid leukaemia with KAT6A::CREBBP fusion Acute myeloid leukemia with t(8;16)(p11;p13) translocation acute myeloid leukemia with KAT6A::CREBBP fusion disease_ontology DOID:0070630 acute myeloid leukemia with KAT6A-CREBBP fusion ICDO:9861/3 NCI:C200421 ORDO:370026 UMLS_CUI:C4511003 DOID:0070630 An acute myeloid leukemia associated with KAT6A-CREBBP gene fusion. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C200421 url:https://pubmed.ncbi.nlm.nih.gov/23974201/ An acute myeloid leukemia associated with FUS-ERG gene fusion. ICDO:9861/3 NCI:C200419 UMLS_CUI:C5856227 Acute myeloid leukaemia with FUS::ERG fusion acute myeloid leukemia with FUS::ERG fusion acute myeloid leukemia with t(16;21)(p11.2;q22) disease_ontology DOID:0070631 acute myeloid leukemia with FUS-ERG fusion ICDO:9861/3 NCI:C200419 UMLS_CUI:C5856227 DOID:0070631 An acute myeloid leukemia associated with FUS-ERG gene fusion. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C200419 url:https://pubmed.ncbi.nlm.nih.gov/24068373/ url:https://pubmed.ncbi.nlm.nih.gov/30150206/ An acute myeloid leukemia associated with MXN1-ETV6 gene fusion. ICDO:9861/3 NCI:C122690 UMLS_CUI:C4055493 Acute Myeloid Leukemia with t(7;12)(q36;p13); HLXB9-ETV6 Acute myeloid leukaemia with MNX1::ETV6 fusion acute myeloid leukemia with MNX1::ETV6 fusion acute myeloid leukemia with t(7;12)(q36;p13) disease_ontology DOID:0070632 acute myeloid leukemia with MNX1-ETV6 fusion ICDO:9861/3 NCI:C122690 UMLS_CUI:C4055493 DOID:0070632 An acute myeloid leukemia associated with MXN1-ETV6 gene fusion. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C122690 url:https://pubmed.ncbi.nlm.nih.gov/29227476/ url:https://pubmed.ncbi.nlm.nih.gov/29569294/ An acute myeloid leukemia associated with NPM1-MLF1 gene fusion. ICDO:9861/3 NCI:C200420 UMLS_CUI:C5856228 Acute myeloid leukaemia with NPM1::MLF1 fusion acute myeloid leukemia with NPM1::MLF1 fusion acute myeloid leukemia with t(3;5)(q25;q35) disease_ontology DOID:0070633 acute myeloid leukemia with NPM1-MLF1 fusion ICDO:9861/3 NCI:C200420 UMLS_CUI:C5856228 DOID:0070633 An acute myeloid leukemia associated with NPM1-MLF1 gene fusion. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C200420 url:https://pubmed.ncbi.nlm.nih.gov/14506644/ url:https://pubmed.ncbi.nlm.nih.gov/20471513/ A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene on chromosome 2p21. MIM:210250 disease_ontology DOID:0070634 sitosterolemia 1 MIM:210250 DOID:0070634 A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene on chromosome 2p21. url:https://pubmed.ncbi.nlm.nih.gov/11099417/ A syndrome characterized byy multiorgan dysfunction and a high rate of adverse cardiovascular outcomes arising from the interconnection between cardiovascular disease, chronic kidney disease, and metabolic risk factors associated with diabetes and obesity. CKM syndrome CRM syndrome cardio-kidney-metabolic syndrome cardiovascular-renal-metabolic syndrome disease_ontology DOID:0070635 cardiovascular-kidney-metabolic syndrome DOID:0070635 A syndrome characterized byy multiorgan dysfunction and a high rate of adverse cardiovascular outcomes arising from the interconnection between cardiovascular disease, chronic kidney disease, and metabolic risk factors associated with diabetes and obesity. url:https://pubmed.ncbi.nlm.nih.gov/37807924/ A musculoskeletal system disease that affects the muscles. disease_ontology DOID:0080000 muscular disease DOID:0080000 A musculoskeletal system disease that affects the muscles. url:http://www.nlm.nih.gov/medlineplus/muscledisorders.html A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. DOID:1290 ICD10CM:M89.9 MESH:D001847 SNOMEDCT_US_2023_03_01:76069003 UMLS_CUI:C0005940 disease_ontology skeletal disease DOID:0080001 bone disease DOID:0080001 A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. url:http://en.wikipedia.org/wiki/Bone_disease A bone disease that results_in formation or resorption abnormalities located_in bone. disease_ontology DOID:0080005 bone remodeling disease DOID:0080005 A bone disease that results_in formation or resorption abnormalities located_in bone. url:http://en.wikipedia.org/wiki/Bone_remodeling A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. disease_ontology DOID:0080006 bone development disease DOID:0080006 A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. url:http://en.wikipedia.org/wiki/Dysplasia A bone structure disease that results_in change or damage of structure located_in bone. disease_ontology DOID:0080007 bone deterioration disease DOID:0080007 A bone structure disease that results_in change or damage of structure located_in bone. url:http://www.nlm.nih.gov/medlineplus/ency/article/004015.htm A bone disease that results_in an interruption of blood supply located_in bone. disease_ontology DOID:0080008 ischemic bone disease DOID:0080008 A bone disease that results_in an interruption of blood supply located_in bone. url:http://en.wikipedia.org/wiki/Avascular_necrosis url:http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm A X-linked monogenic disease that has_material_basis_in dominant inheritance. disease_ontology DOID:0080009 X-linked dominant disease DOID:0080009 A X-linked monogenic disease that has_material_basis_in dominant inheritance. url:https://en.wikipedia.org/wiki/X-linked_dominant_inheritance A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. disease_ontology DOID:0080010 bone structure disease DOID:0080010 A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. url:http://en.wikipedia.org/wiki/Human_skeleton A bone remodeling disease that results in an abnormal decrease of bone density or mass. MESH:D001862 disease_ontology DOID:0080011 bone resorption disease DOID:0080011 A bone remodeling disease that results in an abnormal decrease of bone density or mass. url:http://en.wikipedia.org/wiki/Bone_resorption url:https://www.ncbi.nlm.nih.gov/pubmed/11277085 A X-linked monogenic disease that has_material_basis_in recessive inheritance. disease_ontology DOID:0080012 X-linked recessive disease DOID:0080012 A X-linked monogenic disease that has_material_basis_in recessive inheritance. url:https://en.wikipedia.org/wiki/X-linked_recessive_inheritance disease_ontology DOID:0080013 obsolete mitochondrial disease true DOID:0080013 A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. disease_ontology DOID:0080014 chromosomal disease DOID:0080014 A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. url:http://en.wikipedia.org/wiki/Chromosome_abnormality url:https://www.genome.gov/about-genomics/fact-sheets/Chromosome-Abnormalities-Fact-Sheet A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. congenital disorder disease_ontology DOID:0080015 physical disorder DOID:0080015 A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. url:http://en.wikipedia.org/wiki/Congenital_disorder A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development. GARD:7673 ICD10CM:Q05 ICD9CM:741 MESH:D016135 NCI:C101214 SNOMEDCT_US_2023_03_01:156888006 UMLS_CUI:C0080178 disease_ontology DOID:0080016 spina bifida MESH:D016135 NCI:C101214 DOID:0080016 A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development. url:https://en.wikipedia.org/wiki/Spina_bifida url:https://ghr.nlm.nih.gov/condition/spina-bifida OPCA type 5 OPCA with dementia and extrapyramidal signs disease_ontology DOID:0080017 obsolete olivopontocerebellar atrophy V true DOID:0080017 An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone. Caisson disease of bone DON disease_ontology DOID:0080018 dysbaric osteonecrosis DOID:0080018 An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone. url:http://en.wikipedia.org/wiki/Dysbaric_osteonecrosis DON An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone. MIM:215050 Bakwin-Krida syndrome Pyle's disease Pyle-Cohn syndrome disease_ontology DOID:0080019 metaphyseal dysplasia DOID:0080019 An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone. url:http://en.wikipedia.org/wiki/Metaphyseal_dysplasia A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. MIM:156400 Jansen Disease Jansen Metaphyseal Dysostosis Jansen metaphyseal chondrodysplasia Murk Jansen Type Metaphyseal Chondrodysplasia disease_ontology DOID:0080020 Jansen's metaphyseal chondrodysplasia DOID:0080020 A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. url:http://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia url:http://www.healthline.com/galecontent/metaphyseal-dysplasia-1/2#jansentype A metaphyseal dysplasia that results_in dwarfism and bowed legs. GARD:7029 MIM:156500 Japanese type spondylometaphyseal dysplasia Schmid type metaphyseal dysplasia disease_ontology DOID:0080021 OMIM mapping confirmed by DO. [SN]. Schmid metaphyseal chondrodysplasia DOID:0080021 A metaphyseal dysplasia that results_in dwarfism and bowed legs. url:http://en.wikipedia.org/wiki/Schmid_metaphyseal_chondrodysplasia url:http://www.ncbi.nlm.nih.gov/omim/156500 disease_ontology DOID:0080022 obsolete McKusick type metaphyseal dysplasia true DOID:0080022 disease_ontology DOID:0080023 obsolete Shwachman-Diamond type metaphyseal dysplasia true DOID:0080023 disease_ontology DOID:0080024 obsolete Pyles dysplasia true DOID:0080024 An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. MIM:215150 CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS NANCE-INSLEY SYNDROME NANCE-SWEENEY CHONDRODYSPLASIA OSMEDB disease_ontology DOID:0080026 OMIM mapping confirmed by DO. [SN]. otospondylomegaepiphyseal dysplasia, autosomal recessive DOID:0080026 An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. url:http://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia url:http://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia url:http://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm url:http://www.ncbi.nlm.nih.gov/omim/215150 OSMEDB An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. disease_ontology DOID:0080027 spondyloepimetaphyseal dysplasia DOID:0080027 An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. url:http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). GARD:134 MIM:184250 ORDO:93346 disease_ontology DOID:0080028 OMIM mapping confirmed by DO. [SN]. spondyloepimetaphyseal dysplasia, Strudwick type DOID:0080028 A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). url:http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia,_Strudwick_type url:http://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13. lschriml 2015-10-07T14:55:44Z MIM:615768 SCAR16 disease_ontology DOID:0080029 autosomal recessive spinocerebellar ataxia 16 DOID:0080029 An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/24113144 SCAR16 A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. GARD:10618 MESH:C566574 MIM:602111 ORDO:93356 disease_ontology DOID:0080030 OMIM mapping confirmed by DO. [SN]. spondyloepimetaphyseal dysplasia, Missouri type DOID:0080030 A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. url:https://pubmed.ncbi.nlm.nih.gov/16167086/ A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue. GARD:6444 ICDO:8818/0 disease_ontology DOID:0080031 fibrous dysplasia DOID:0080031 A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue. url:http://en.wikipedia.org/wiki/Fibrous_dysplasia_of_bone url:http://orthoinfo.aaos.org/topic.cfm?topic=a00083 url:http://www.mayoclinic.com/health/fibrous-dysplasia/DS00991 url:http://www.nlm.nih.gov/medlineplus/ency/article/001234.htm An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. GARD:1567 MESH:C562940 MIM:218300 disease_ontology DOID:0080032 craniodiaphyseal dysplasia MESH:C562940 DOID:0080032 An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. url:http://en.wikipedia.org/wiki/Craniodiaphyseal_dysplasia url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1513 An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. MIM:PS123000 ORDO:1522 disease_ontology DOID:0080033 Xref MGI. craniometaphyseal dysplasia DOID:0080033 An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. url:http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniometaphyseal%20Dysplasia url:https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/ url:https://www.ncbi.nlm.nih.gov/books/NBK154653/ A hyperostosis of endosteal bone. disease_ontology DOID:0080034 obsolete endosteal hyperostosis true DOID:0080034 A hyperostosis of endosteal bone. url:http://www.medcyclopaedia.com/library/topics/volume_iii_1/e/endosteal_hyperostosis.aspx A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. DOID:0080035 GARD:4771 MIM:239100 ORDO:3152 van Buchem disease disease_ontology DOID:0080036 SOST-related sclerosing bone dysplasia DOID:0080036 A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. url:http://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. DOID:0111372 GARD:390 MESH:C536748 MIM:144750 ORDO:2790 SNOMEDCT_US_2023_03_01:254131007 UMLS_CUI:C0432273 Worth's syndrome autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis benign form of Worth hyperostosis corticalis generalisata with torus platinus disease_ontology DOID:0080037 Worth syndrome DOID:0080037 A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. url:http://en.wikipedia.org/wiki/Worth_syndrome url:https://pubmed.ncbi.nlm.nih.gov/29709743 url:https://www.ncbi.nlm.nih.gov/pubmed/12579474 url:https://www.ncbi.nlm.nih.gov/pubmed/4942110 An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. GARD:4611 MESH:D058631 MIM:265800 ORDO:763 disease_ontology DOID:0080038 pycnodysostosis DOID:0080038 An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. url:http://en.wikipedia.org/wiki/Pycnodysostosis An osteosclerosis that results_in coarsening located_in trabecular bone. GARD:8431 MESH:C537791 MIM:109130 disease_ontology DOID:0080039 axial osteomalacia DOID:0080039 An osteosclerosis that results_in coarsening located_in trabecular bone. url:http://en.wikipedia.org/wiki/Axial_osteomalacia A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. Baker's disease disease_ontology DOID:0080040 fibrogenesis imperfecta ossium DOID:0080040 A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. url:https://www.ncbi.nlm.nih.gov/pubmed/7559718 An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. GARD:6724 ICD10CM:Q77.4 MESH:C562937 MIM:146000 NCI:C118697 ORDO:429 SNOMEDCT_US_2023_03_01:205468002 UMLS_CUI:C0410529 disease_ontology DOID:0080041 hypochondroplasia DOID:0080041 An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. url:http://en.wikipedia.org/wiki/Hypochondroplasia url:http://ghr.nlm.nih.gov/condition/hypochondroplasia url:http://www.ncbi.nlm.nih.gov/books/NBK1477/ An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22. lschriml 2015-10-07T14:55:44Z MIM:616204 SCAR18 disease_ontology DOID:0080042 autosomal recessive spinocerebellar ataxia 18 DOID:0080042 An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22. url:https://www.ncbi.nlm.nih.gov/pubmed/24078737 SCAR18 An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. GARD:2882 MESH:C579878 MIM:PS200600 disease_ontology DOID:0080043 achondrogenesis DOID:0080043 An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. url:http://en.wikipedia.org/wiki/Achondrogenesis url:http://www.healthline.com/galecontent/achondrogenesis url:http://www.nlm.nih.gov/medlineplus/ency/article/001247.htm url:http://www.orpha.net/data/patho/Pro/en/Achondrogenesis-FRenPro1256.pdf url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Achondrogenesis An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. MESH:C563007 disease_ontology DOID:0080044 hypochondrogenesis DOID:0080044 An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. url:http://en.wikipedia.org/wiki/Hypochondrogenesis url:http://ghr.nlm.nih.gov/condition/hypochondrogenesis url:http://www.healthline.com/galecontent/hypochondrogenesis An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. GARD:6841 MESH:C537207 MIM:156550 disease_ontology DOID:0080045 Kniest dysplasia DOID:0080045 An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. url:http://ghr.nlm.nih.gov/condition/kniest-dysplasia url:http://www.ksginfo.org/kniest.html A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. GARD:10782 MIM:PS108300 ORDO:828 disease_ontology DOID:0080046 OMIM mapping confirmed by DO. [SN]. Stickler syndrome DOID:0080046 A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. url:https://en.wikipedia.org/wiki/Stickler_syndrome url:https://ghr.nlm.nih.gov/condition/stickler-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1302/ An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. DOID:14800 GARD:4540 MESH:C535819 MIM:177170 SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC pseudoachondroplastic dysplasia disease_ontology DOID:0080047 OMIM mapping confirmed by DO. [SN]. pseudoachondroplasia DOID:0080047 An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. url:http://en.wikipedia.org/wiki/Pseudoachondroplasia url:http://ghr.nlm.nih.gov/condition/pseudoachondroplasia url:http://www.healthline.com/galecontent/pseudoachondroplasia url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=750.0 url:http://www.wheelessonline.com/ortho/pseudoachondroplasia disease_ontology DOID:0080048 obsolete trichorhinophalangeal syndrome I true DOID:0080048 An osteochondrodysplasia that is characterized by mesomelia and acromelia, which results_in short limb dwarfism. GARD:6 MESH:C535658 ORDO:93437 disease_ontology DOID:0080049 acromesomelic dysplasia DOID:0080049 An osteochondrodysplasia that is characterized by mesomelia and acromelia, which results_in short limb dwarfism. url:http://www.webmd.com/a-to-z-guides/acromesomelic-dysplasia url:https://rarediseases.org/rare-diseases/acromesomelic-dysplasia/ An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the NPR2 gene, which encodes natriuretic peptide receptor B, on chromosome 9p13. GARD:507 MESH:C535661 MIM:602875 ORDO:40 acromesomelic dysplasia-1 disease_ontology DOID:0080050 OMIM mapping confirmed by DO. [SN]. acromesomelic dysplasia, Maroteaux type DOID:0080050 An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the NPR2 gene, which encodes natriuretic peptide receptor B, on chromosome 9p13. url:http://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf url:https://en.wikipedia.org/wiki/Acromesomelic_dysplasia An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. GARD:506 MIM:201250 ORDO:968 acromesomelic dwarfism acromesomelic dysplasia-2C disease_ontology DOID:0080051 OMIM mapping confirmed by DO. [SN]. acromesomelic dysplasia, Hunter-Thompson type DOID:0080051 An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. url:http://www.orpha.net/data/patho/GB/uk-hunter05.pdf url:https://en.wikipedia.org/wiki/Acromesomelic_dysplasia An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDMP1 gene on chromosome 20q11. GARD:1300 MIM:200700 ORDO:2098 acromesomelic dysplasia-2A grebe chondrodysplasia disease_ontology DOID:0080052 acromesomelic dysplasia, Grebe type DOID:0080052 An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDMP1 gene on chromosome 20q11. url:http://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf url:https://en.wikipedia.org/wiki/Acromesomelic_dysplasia A pseudohypoparathyroidism that characterized by shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, rounded face, and lack of responsiveness to parathyroid hormone that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the maternal allele. This results in expression of the Gs-alpha protein only from the paternal allele. GARD:7486 MIM:103580 ORDO:79443 Albright hereditary osteodystrophy Albright's hereditary osteodystrophy PHP Ia disease_ontology DOID:0080053 pseudohypoparathyroidism type 1A DOID:0080053 A pseudohypoparathyroidism that characterized by shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, rounded face, and lack of responsiveness to parathyroid hormone that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the maternal allele. This results in expression of the Gs-alpha protein only from the paternal allele. url:http://en.wikipedia.org/wiki/Albright%27s_hereditary_osteodystrophy PHP Ia An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. GARD:459 MIM:200600 achondrogenesis Houston-Harris type disease_ontology DOID:0080054 OMIM mapping confirmed by DO. [SN]. achondrogenesis type IA DOID:0080054 An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. url:http://en.wikipedia.org/wiki/Achondrogenesis_type_1A An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. GARD:460 MIM:600972 achondrogenesis Fraccaro type disease_ontology DOID:0080055 OMIM mapping confirmed by DO. [SN]. achondrogenesis type IB DOID:0080055 An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. url:http://en.wikipedia.org/wiki/Achondrogenesis_type_1B url:http://ghr.nlm.nih.gov/condition/achondrogenesis url:http://www.healthline.com/galecontent/achondrogenesis url:http://www.ncbi.nlm.nih.gov/books/NBK1516/ An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. GARD:8713 MESH:C536017 MIM:200610 disease_ontology DOID:0080056 OMIM mapping confirmed by DO. [SN]. achondrogenesis type II DOID:0080056 An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. url:http://en.wikipedia.org/wiki/Achondrogenesis_type_2 url:http://ghr.nlm.nih.gov/condition/achondrogenesis url:http://www.healthline.com/galecontent/achondrogenesis An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29. lschriml 2015-10-07T14:55:44Z MIM:615705 SCAR15 disease_ontology DOID:0080057 autosomal recessive spinocerebellar ataxia 15 DOID:0080057 An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29. url:https://www.ncbi.nlm.nih.gov/pubmed/20826435 SCAR15 An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13. lschriml 2015-10-07T14:55:44Z MIM:615386 SCAR14 disease_ontology DOID:0080058 autosomal recessive spinocerebellar ataxia 14 DOID:0080058 An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/23236289 SCAR14 An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15. lschriml 2015-10-07T14:55:44Z GARD:12232 MIM:609270 SCAR7 disease_ontology DOID:0080059 autosomal recessive spinocerebellar ataxia 7 DOID:0080059 An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15. url:https://ghr.nlm.nih.gov/gene/TPP1 url:https://www.ncbi.nlm.nih.gov/pubmed/26224725 SCAR7 An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23. lschriml 2015-10-07T14:55:44Z MIM:614322 SCAR12 disease_ontology DOID:0080060 autosomal recessive spinocerebellar ataxia 12 DOID:0080060 An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23. url:https://www.ncbi.nlm.nih.gov/pubmed/24369382 SCAR12 An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34. lschriml 2015-10-07T14:55:44Z MIM:213200 SCAR2 disease_ontology DOID:0080061 autosomal recessive spinocerebellar ataxia 2 DOID:0080061 An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34. url:https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia url:https://www.omim.org/entry/606002 SCAR2 An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24. lschriml 2015-10-07T14:55:44Z MIM:614831 SCAR13 disease_ontology DOID:0080062 autosomal recessive spinocerebellar ataxia 13 DOID:0080062 An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24. url:https://www.ncbi.nlm.nih.gov/pubmed/22901947 SCAR13 An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32. lschriml 2015-10-07T14:55:44Z MIM:614229 SCAR11 disease_ontology DOID:0080063 autosomal recessive spinocerebellar ataxia 11 DOID:0080063 An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32. url:https://www.ncbi.nlm.nih.gov/pubmed/21835308 SCAR11 An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24. lschriml 2015-10-07T14:55:44Z MIM:616127 SCAR17 disease_ontology DOID:0080064 autosomal recessive spinocerebellar ataxia 17 DOID:0080064 An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/26197978 SCAR17 An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36. lschriml 2015-10-07T14:55:44Z MIM:616291 Lichtenstein-Knorr syndrome SCAR19 disease_ontology DOID:0080065 autosomal recessive spinocerebellar ataxia 19 DOID:0080065 An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/25205112 SCAR19 An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14. lschriml 2015-10-07T14:55:44Z MIM:616354 SCAR20 disease_ontology DOID:0080066 autosomal recessive spinocerebellar ataxia 20 DOID:0080066 An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14. url:https://www.ncbi.nlm.nih.gov/pubmed/25439728 SCAR20 A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait. lschriml 2015-10-08T16:55:50Z MIM:600361 hereditary motor and sensory neuropathy with pyramidal features disease_ontology DOID:0080067 Charcot-Marie-Tooth disease type 5 DOID:0080067 A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait. url:https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications url:https://www.ncbi.nlm.nih.gov/pubmed/12601114 A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. lschriml 2015-10-08T16:55:50Z MIM:601152 MIM:616505 hereditary motor and sensory neuropathy type 6 disease_ontology DOID:0080068 Charcot-Marie-Tooth disease type 6 DOID:0080068 A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. url:https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications url:https://www.ncbi.nlm.nih.gov/pubmed/26168012 A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa. lschriml 2015-10-08T16:55:50Z disease_ontology DOID:0080069 Charcot-Marie-Tooth disease type 7 DOID:0080069 A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa. url:https://www.ncbi.nlm.nih.gov/pubmed/25491489 A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene. lschriml 2015-10-08T17:58:48Z GARD:6749 MIM:252500 I-cell disease inclusion-cell disease mucolipidosis II disease_ontology DOID:0080070 mucolipidosis II alpha/beta DOID:0080070 A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene. url:https://en.wikipedia.org/wiki/I-cell_disease url:https://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta url:https://pubmed.ncbi.nlm.nih.gov/16116615/ url:https://rarediseases.org/rare-diseases/i-cell-disease/ url:https://www.ncbi.nlm.nih.gov/books/NBK1828/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336676/ A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase. lschriml 2015-10-08T17:58:48Z MIM:252600 ORDO:577 mucolipidosis III pseudo-Hurler polydystrophy disease_ontology DOID:0080071 mucolipidosis III alpha/beta DOID:0080071 A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase. url:https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract. lschriml 2015-10-19T14:28:30Z DOID:3878 GARD:12744 GARD:6789 MESH:D007418 NCI:C34733 ORDO:2978 SNOMEDCT_US_2023_03_01:235825006 UMLS_CUI:C0021847 Chronic intestinal pseudo-obstruction neuronal intestinal dysplasia disease_ontology DOID:0080072 intestinal pseudo-obstruction DOID:0080072 A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract. url:https://ghr.nlm.nih.gov/condition/intestinal-pseudo-obstruction url:https://pubmed.ncbi.nlm.nih.gov/31848803/ A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed. lschriml 2015-10-19T14:35:47Z MESH:D016136 disease_ontology DOID:0080073 spina bifida occulta DOID:0080073 A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed. url:https://en.wikipedia.org/wiki/Spina_bifida#Spina_bifida_occulta A physical disorder characterized by incomplete closure of the neural tube. lschriml 2015-10-19T14:41:42Z GARD:4016 MIM:301410 MIM:601634 disease_ontology DOID:0080074 neural tube defect DOID:0080074 A physical disorder characterized by incomplete closure of the neural tube. url:https://en.wikipedia.org/wiki/Neural_tube_defect url:https://www.ncbi.nlm.nih.gov/books/NBK555903/ A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine. lschriml 2015-10-19T14:47:01Z MIM:616038 disease_ontology DOID:0080075 Neu-Laxova syndrome 2 DOID:0080075 A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine. url:https://www.omim.org/entry/616038 A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine. lschriml 2015-10-19T14:47:35Z MIM:256520 disease_ontology DOID:0080076 Neu-Laxova syndrome 1 DOID:0080076 A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine. url:https://www.omim.org/entry/256520 A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35. lschriml 2015-10-19T14:52:42Z MESH:C567363 MIM:612286 disease_ontology DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 DOID:0080077 A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35. url:https://www.ncbi.nlm.nih.gov/pubmed/12324554 A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1. lschriml 2015-10-19T14:52:42Z MESH:C567362 MIM:612287 disease_ontology DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 DOID:0080078 A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1. url:https://pubmed.ncbi.nlm.nih.gov/31364377/ url:https://www.ncbi.nlm.nih.gov/pubmed/18784102 url:https://www.nejm.org/doi/full/10.1056/NEJMoa020028 A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance. lschriml 2015-11-09T15:13:08Z DOID:0080088 MIM:161050 ORDO:280654 ORDO:79153 nonsyndromic congenital nail disorder 10 twenty-nail dystrophy disease_ontology DOID:0080079 nonsyndromic congenital nail disorder 1 DOID:0080079 A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance. url:https://pubmed.ncbi.nlm.nih.gov/26149975/ A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges. lschriml 2015-11-09T15:18:20Z MIM:149300 disease_ontology DOID:0080080 nonsyndromic congenital nail disorder 2 DOID:0080080 A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges. url:https://pubmed.ncbi.nlm.nih.gov/26149975/ A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails. lschriml 2015-11-09T15:18:20Z MIM:151600 disease_ontology DOID:0080081 nonsyndromic congenital nail disorder 3 DOID:0080081 A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails. url:https://pubmed.ncbi.nlm.nih.gov/26149975/ A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13. lschriml 2015-11-09T15:18:20Z DOID:0050643 GARD:12930 MESH:C536377 MIM:206800 HYPONYCHIA CONGENITA anonychia congenita disease_ontology DOID:0080082 nonsyndromic congenital nail disorder 4 DOID:0080082 A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13. url:https://ghr.nlm.nih.gov/condition/anonychia-congenita url:https://pubmed.ncbi.nlm.nih.gov/26149975/ A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment. lschriml 2015-11-09T15:18:20Z MIM:164800 disease_ontology DOID:0080083 nonsyndromic congenital nail disorder 5 DOID:0080083 A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment. url:https://pubmed.ncbi.nlm.nih.gov/26149975/ A nonsyndromic congenital nail disorder that is characterized by partial absences of nails. lschriml 2015-11-09T15:18:20Z MIM:107000 disease_ontology DOID:0080084 nonsyndromic congenital nail disorder 6 DOID:0080084 A nonsyndromic congenital nail disorder that is characterized by partial absences of nails. url:https://pubmed.ncbi.nlm.nih.gov/26149975/ A nonsyndromic congenital nail disorder that is characterized by nails with longi- tudinal streaks, thinning of the nail plate, poorly developed or absent lunulae, along with variously disturbed formation of the nail plate leading to increased vulnerability of the free nail margins. lschriml 2015-11-09T15:18:20Z MIM:605779 disease_ontology DOID:0080085 nonsyndromic congenital nail disorder 7 DOID:0080085 A nonsyndromic congenital nail disorder that is characterized by nails with longi- tudinal streaks, thinning of the nail plate, poorly developed or absent lunulae, along with variously disturbed formation of the nail plate leading to increased vulnerability of the free nail margins. url:https://pubmed.ncbi.nlm.nih.gov/26149975/ A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only. lschriml 2015-11-09T15:18:20Z MIM:607523 isolated toenail dystrophy disease_ontology DOID:0080086 nonsyndromic congenital nail disorder 8 DOID:0080086 A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only. url:https://pubmed.ncbi.nlm.nih.gov/26149975/ A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails. lschriml 2015-11-09T15:18:20Z MIM:614149 disease_ontology DOID:0080087 nonsyndromic congenital nail disorder 9 DOID:0080087 A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails. url:https://pubmed.ncbi.nlm.nih.gov/26149975/ lschriml 2015-11-09T15:18:20Z disease_ontology DOID:0080088 merged into type 1. [LS] obsolete nonsyndromic congenital nail disorder 10 true DOID:0080088 A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15. lschriml 2015-11-10T16:53:39Z GARD:3884 MIM:160565 ORDO:2593 disease_ontology DOID:0080089 tubular aggregate myopathy 1 ORDO:2593 DOID:0080089 A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/ A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. lschriml 2015-11-10T16:54:50Z GARD:12162 MIM:300717 disease_ontology DOID:0080090 reducing body myopathy 1A DOID:0080090 A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. url:https://pubmed.ncbi.nlm.nih.gov/17099882/ A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has_material_basis_in heterozygous mutation in the myotilin gene on chromosome 5q31. lschriml 2015-11-10T16:57:47Z disease_ontology DOID:0080091 Merged by OMIM. Same gene as 'term replaced by' with variable onset and phenotype. obsolete spheroid body myopathy true DOID:0080091 A myofibrillar myopathy that is characterized by predominantly proximal muscle weakness associated with spheroid body inclusions and that has_material_basis_in heterozygous mutation in the myotilin gene on chromosome 5q31. url:https://pubmed.ncbi.nlm.nih.gov/16380616/ A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. lschriml 2015-11-10T16:59:22Z DOID:0110286 ICD10CM:G71.0 MIM:601419 ORDO:363543 autosomal recessive limb-girdle muscular dystrophy type 2R desminopathy disease_ontology DOID:0080092 myofibrillar myopathy 1 DOID:0080092 A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. url:https://www.ncbi.nlm.nih.gov/pubmed/23687351 A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23. lschriml 2015-11-10T16:59:22Z MIM:608810 ORDO:399058 alpha-b crystallinopathy disease_ontology DOID:0080093 myofibrillar myopathy 2 DOID:0080093 A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23. url:https://pubmed.ncbi.nlm.nih.gov/14681890/ A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31. lschriml 2015-11-10T16:59:22Z DOID:0080091 DOID:0110300 GARD:10229 GARD:8711 ICD10CM:G71.0 MESH:C000598645 MESH:C535906 MIM:609200 ORDO:266 ORDO:268129 LGMD 1A LGMD1A autosomal dominant limb-girdle muscular dystrophy type 1A myotilinopathy spheroid body myopathy disease_ontology DOID:0080094 myofibrillar myopathy 3 DOID:0080094 A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31. url:https://pubmed.ncbi.nlm.nih.gov/10958653/ url:https://pubmed.ncbi.nlm.nih.gov/16380616/ url:https://pubmed.ncbi.nlm.nih.gov/30055862/ LGMD 1A LGMD1A A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10. lschriml 2015-11-10T16:59:22Z MIM:609452 zaspopathy disease_ontology DOID:0080095 myofibrillar myopathy 4 DOID:0080095 A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10. url:https://pubmed.ncbi.nlm.nih.gov/17337483/ A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. lschriml 2015-11-10T16:59:22Z MIM:609524 filaminopathy disease_ontology DOID:0080096 myofibrillar myopathy 5 DOID:0080096 A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. url:https://pubmed.ncbi.nlm.nih.gov/15929027/ A myofibrillar myopathy that is characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. lschriml 2015-11-10T16:59:22Z MIM:612954 disease_ontology BAG3-related myofibrillar myopathy DOID:0080097 myofibrillar myopathy 6 DOID:0080097 A myofibrillar myopathy that is characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. url:https://pubmed.ncbi.nlm.nih.gov/22734908/ A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22. lschriml 2015-11-10T16:59:22Z MIM:617114 disease_ontology DOID:0080098 myofibrillar myopathy 7 DOID:0080098 A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22. url:https://pubmed.ncbi.nlm.nih.gov/27484770/ A mitochondrial myopathy that is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. lschriml 2015-11-10T17:17:42Z ORDO:2598 disease_ontology DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia DOID:0080099 A mitochondrial myopathy that is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253070/ A myopathy that is characterized by the lack of muscle tone or floppiness at birth. DOID:2106 lschriml 2015-11-10T17:25:05Z disease_ontology DOID:0080100 obsolete Batten Turner congenital myopathy true DOID:0080100 A myopathy that is characterized by the lack of muscle tone or floppiness at birth. url:https://rarediseases.org/rare-diseases/myopathy-congenital-batten-turner-type/ A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. lschriml 2015-11-10T17:27:15Z MIM:612540 ORDO:210163 congenital myopathy 12 disease_ontology DOID:0080101 Compton-North congenital myopathy DOID:0080101 A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. url:https://pubmed.ncbi.nlm.nih.gov/19026398/ A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs. lschriml 2015-11-10T17:27:15Z MIM:255310 CFTD congenital fiber-type disproportion disease_ontology DOID:0080102 congenital myopathy 4A DOID:0080102 A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs. url:https://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion CFTD A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions. lschriml 2015-11-10T17:27:15Z GARD:11906 MIM:160990 disease_ontology DOID:0080103 cylindrical spirals myopathy DOID:0080103 A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions. url:https://en.wikipedia.org/wiki/Congenital_myopathy#Cylindrical_spirals_myopathy A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. MIM:251270 disease_ontology DOID:0080105 microcephaly and chorioretinopathy 1 DOID:0080105 A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/25344692 A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene. MIM:616171 disease_ontology DOID:0080106 microcephaly and chorioretinopathy 2 DOID:0080106 A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/25344692 A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene. MIM:616335 disease_ontology DOID:0080107 microcephaly and chorioretinopathy 3 DOID:0080107 A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/25344692 A myopathy that is characterized by an increased urinary excretion of myoglobin. MESH:D009212 MIM:160010 MIM:268200 MIM:550500 disease_ontology DOID:0080108 myoglobinuria DOID:0080108 A myopathy that is characterized by an increased urinary excretion of myoglobin. url:https://books.google.com/books?id=BxWOErb3sEgC&pg=PA477&dq=myoglobinuria&hl=en&sa=X&ved=0CCoQ6AEwAmoVChMIiYqijYmJyQIVCGk-Ch3ROwQk#v=onepage&q=myoglobinuria&f=false url:https://www.ncbi.nlm.nih.gov/pubmed/9098484 A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs. GARD:2998 MIM:228550 MIM:615293 ORDO:2591 lipofibromatosis disease_ontology DOID:0080109 infantile myofibromatosis DOID:0080109 A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs. url:https://pubmed.ncbi.nlm.nih.gov/27259011/ url:https://www.ncbi.nlm.nih.gov/pubmed/23731542 A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. MESH:C537377 MIM:253290 MIM:265000 MIM:312150 MIM:PS178110 multiple pterygium syndrome disease_ontology DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome DOID:0080110 A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. url:http://rarediseases.org/rare-diseases/pterygium-syndrome-multiple/ url:https://en.wikipedia.org/wiki/Multiple_pterygium_syndrome url:https://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/25957469 A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35. MIM:124000 disease_ontology DOID:0080111 mitochondrial complex III deficiency nuclear type 1 DOID:0080111 A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35. url:http://omim.org/entry/124000?search=124000&highlight=124000 A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22. MIM:615158 disease_ontology DOID:0080112 mitochondrial complex III deficiency nuclear type 3 DOID:0080112 A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22. url:http://omim.org/entry/615158?search=615158&highlight=615158 A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31. MIM:615159 disease_ontology DOID:0080113 mitochondrial complex III deficiency nuclear type 4 DOID:0080113 A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31. url:http://omim.org/entry/615159?search=615159&highlight=615159 A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12. MIM:615160 disease_ontology DOID:0080114 mitochondrial complex III deficiency nuclear type 5 DOID:0080114 A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12. url:http://omim.org/entry/615160?search=615160&highlight=615160 A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24. MIM:615453 disease_ontology DOID:0080115 mitochondrial complex III deficiency nuclear type 6 DOID:0080115 A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24. url:http://omim.org/entry/615453?search=615453&highlight=615453 A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21. MIM:615824 disease_ontology DOID:0080116 mitochondrial complex III deficiency nuclear type 7 DOID:0080116 A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21. url:http://omim.org/entry/615824?search=615824&highlight=615824 A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23. MIM:615838 disease_ontology DOID:0080117 mitochondrial complex III deficiency nuclear type 8 DOID:0080117 A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23. url:http://omim.org/entry/615838?search=615838&highlight=615838 A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12. MIM:616111 disease_ontology DOID:0080118 mitochondrial complex III deficiency nuclear type 9 DOID:0080118 A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12. url:http://omim.org/entry/616111?search=616111&highlight=616111 A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene (TYMP) on chromosome 22q13. GARD:9920 MESH:C536350 MIM:603041 NCI:C11967 ORDO:298 mitochondrial DNA depletion syndrome 1 (MNGIE type) mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related disease_ontology DOID:0080119 mitochondrial DNA depletion syndrome 1 DOID:0080119 A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene (TYMP) on chromosome 22q13. url:https://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome url:https://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease url:https://www.ncbi.nlm.nih.gov/pubmed/19056268 url:https://www.ncbi.nlm.nih.gov/pubmed/20301358 url:https://www.omim.org/entry/603041 A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21. MESH:C563698 MIM:609560 ORDO:254875 TK2-related mitochondrial DNA depletion syndrome, myopathic form disease_ontology DOID:0080120 mitochondrial DNA depletion syndrome 2 DOID:0080120 A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21. url:https://ghr.nlm.nih.gov/condition/tk2-related-mitochondrial-dna-depletion-syndrome-myopathic-form url:https://www.ncbi.nlm.nih.gov/pubmed/2881246 url:https://www.ncbi.nlm.nih.gov/pubmed/29735374 A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13. GARD:13644 MESH:C580039 MIM:251880 ORDO:279934 deoxyguanosine kinase deficiency disease_ontology DOID:0080121 mitochondrial DNA depletion syndrome 3 DOID:0080121 A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13. url:https://ghr.nlm.nih.gov/condition/deoxyguanosine-kinase-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/24423689 url:https://www.ncbi.nlm.nih.gov/pubmed/30589726 A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG) on chromosome 15q26. DOID:1442 GARD:5783 ICD10CM:G31.81 MESH:D002549 MIM:203700 NCI:C35257 ORDO:726 SNOMEDCT_US_2023_03_01:20415001 UMLS_CUI:C0205710 Alper's syndrome Alpers disease Alpers progressive infantile poliodystrophy Alpers syndrome Alpers' disease or gray-matter degeneration Diffuse Cerebral Sclerosis of Schilder Polg disease mitochondrial DNA depletion syndrome 4a progressive sclerosing poliodystrophy disease_ontology DOID:0080122 Alpers-Huttenlocher syndrome MESH:D002549 DOID:0080122 A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG) on chromosome 15q26. url:https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome url:https://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/30103161 url:https://www.ncbi.nlm.nih.gov/pubmed/30451971 A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene (POLG) on chromosome 15q26. MIM:613662 ORDO:298 mitochondrial neurogastrointestinal encephalopathy syndrome disease_ontology DOID:0080123 mitochondrial DNA depletion syndrome 4b DOID:0080123 A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene (POLG) on chromosome 15q26. url:https://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/30385167 url:https://www.ncbi.nlm.nih.gov/pubmed/30395865 A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14. MESH:C567624 MESH:C580473 MIM:612073 succinate-CoA ligase deficiency disease_ontology DOID:0080124 mitochondrial DNA depletion syndrome 5 DOID:0080124 A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14. url:https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome url:https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/24986829 url:https://www.ncbi.nlm.nih.gov/pubmed/26952923 A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23. GARD:3972 MESH:C538344 MIM:256810 ORDO:255229 MPV17-related hepatocerebral mitochondrial DNA depletion syndrome Navajo neurohepatopathy disease_ontology DOID:0080125 mitochondrial DNA depletion syndrome 6 DOID:0080125 A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23. url:https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome url:https://ghr.nlm.nih.gov/condition/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/29282788 url:https://www.ncbi.nlm.nih.gov/pubmed/30298599 A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24. DOID:0050556 GARD:4062 MESH:C535523 MIM:271245 OHAHA SYNDROME infantile onset spinocerebellar ataxia disease_ontology DOID:0080126 mitochondrial DNA depletion syndrome 7 DOID:0080126 A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24. url:https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia url:https://www.ncbi.nlm.nih.gov/pubmed/18775955 url:https://www.ncbi.nlm.nih.gov/pubmed/30391088 A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22. GARD:13200 MESH:C536350 MIM:612075 RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy disease_ontology DOID:0080127 mitochondrial DNA depletion syndrome 8a DOID:0080127 A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22. url:https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome url:https://ghr.nlm.nih.gov/condition/rrm2b-related-mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-renal-tubulopathy url:https://www.ncbi.nlm.nih.gov/pubmed/24741716 url:https://www.ncbi.nlm.nih.gov/pubmed/30439532 A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11. MESH:C580473 MIM:245400 ORDO:17 fatal infantile lactic acidosis disease_ontology DOID:0080128 mitochondrial DNA depletion syndrome 9 DOID:0080128 A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11. url:https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome url:https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/28215579 url:https://www.ncbi.nlm.nih.gov/pubmed/29217198 A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11. MIM:615084 ORDO:352447 progressive external ophthalmoplegia-myopathy-emaciation syndrome disease_ontology DOID:0080129 mitochondrial DNA depletion syndrome 11 DOID:0080129 A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11. url:https://www.ncbi.nlm.nih.gov/pubmed/23313956 url:https://www.ncbi.nlm.nih.gov/pubmed/28215579 A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. MIM:617184 NCI:C129977 disease_ontology DOID:0080130 mitochondrial DNA depletion syndrome 12a DOID:0080130 A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. url:https://www.ncbi.nlm.nih.gov/pubmed/27693233 A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16. GARD:13298 MIM:615471 ORDO:369897 FBXL4 deficiency FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome mitochondrial DNA depletion syndrome 13, encephalomyopathic type disease_ontology DOID:0080131 mitochondrial DNA depletion syndrome 13 DOID:0080131 A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16. url:https://ghr.nlm.nih.gov/condition/fbxl4-related-encephalomyopathic-mitochondrial-dna-depletion-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/26404457 url:https://www.ncbi.nlm.nih.gov/pubmed/28215579 url:https://www.ncbi.nlm.nih.gov/pubmed/28940506 A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34. GARD:1142 MESH:C538280 MIM:212350 ORDO:1369 mitochondrial DNA depletion syndrome 10 mitochondrial DNA depletion syndrome 10 (cardiomyopathic type) disease_ontology DOID:0080132 Sengers syndrome DOID:0080132 A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34. url:https://en.wikipedia.org/wiki/Sengers_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/28712724 url:https://www.ncbi.nlm.nih.gov/pubmed/29682452 A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13. GARD:12632 MIM:605711 ORDO:401869 NFU1 deficiency disease_ontology DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 DOID:0080133 A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13. url:https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/22077971 url:https://www.ncbi.nlm.nih.gov/pubmed/28470589 url:https://www.ncbi.nlm.nih.gov/pubmed/29441221 A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13. GARD:12632 MIM:614299 ORDO:401874 BOLA3 deficiency multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia disease_ontology DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 DOID:0080134 A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13. url:https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/22562699 url:https://www.ncbi.nlm.nih.gov/pubmed/24334290 url:https://www.ncbi.nlm.nih.gov/pubmed/29654549 A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42. MIM:615330 ORDO:363424 IBA57 deficiency disease_ontology DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 DOID:0080135 A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/27785568 url:https://www.ncbi.nlm.nih.gov/pubmed/28671726 url:https://www.ncbi.nlm.nih.gov/pubmed/28913435 A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24. MIM:616370 ORDO:457406 disease_ontology DOID:0080136 multiple mitochondrial dysfunctions syndrome 4 DOID:0080136 A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24. url:https://www.ncbi.nlm.nih.gov/pubmed/25539947 url:https://www.ncbi.nlm.nih.gov/pubmed/29122497 url:https://www.ncbi.nlm.nih.gov/pubmed/29297947 url:https://www.ncbi.nlm.nih.gov/pubmed/29359243 A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked. MESH:C567059 MIM:610755 Multiple Endocrine Neoplasia, Type IV disease_ontology DOID:0080137 multiple endocrine neoplasia type 4 DOID:0080137 A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked. url:https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21. MIM:614080 disease_ontology DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 DOID:0080138 A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21. url:https://www.ncbi.nlm.nih.gov/pubmed/21493957 A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. DOID:0080466 GARD:12777 MIM:300868 ORDO:300496 developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4 disease_ontology DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 DOID:0080139 A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. url:https://www.ncbi.nlm.nih.gov/pubmed/10441586 url:https://www.ncbi.nlm.nih.gov/pubmed/22305531 A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. MIM:615398 M syndrome light fixation seizure syndrome disease_ontology DOID:0080140 multiple congenital anomalies-hypotonia-seizures syndrome 3 DOID:0080140 A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. url:https://pubmed.ncbi.nlm.nih.gov/36177944/ url:https://www.ncbi.nlm.nih.gov/pubmed/21493957 A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15. MIM:257300 disease_ontology DOID:0080141 mosaic variegated aneuploidy syndrome 1 DOID:0080141 A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15. url:https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21. MIM:614114 disease_ontology DOID:0080142 mosaic variegated aneuploidy syndrome 2 DOID:0080142 A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21. url:https://pubmed.ncbi.nlm.nih.gov/21552266/ An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position. GARD:12590 MESH:C580012 MIM:PS135700 ORDO:45358 disease_ontology DOID:0080143 congenital fibrosis of the extraocular muscles DOID:0080143 An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position. url:https://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles#synonyms url:https://www.ncbi.nlm.nih.gov/books/NBK1348/ An acute lymphocytic leukemia occurring during childhood. NCI:C3168 Childhood Acute Lymphoblastic Leukemia disease_ontology DOID:0080144 childhood acute lymphocytic leukemia DOID:0080144 An acute lymphocytic leukemia occurring during childhood. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.04d&ns=NCI_Thesaurus&code=C3168&key=736438179&b=1&n=null A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells. DOID:7933 NCI:C5640 UMLS_CUI:C1332997 T-cell childhood acute lymphocytic leukemia childhood precursor T-lymphoblastic lymphoma/leukemia disease_ontology DOID:0080145 childhood T-cell acute lymphoblastic leukemia DOID:0080145 A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C7953 A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells. NCI:C9140 disease_ontology DOID:0080146 childhood B-cell acute lymphoblastic leukemia DOID:0080146 A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C9140 A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites. GARD:3329 disease_ontology DOID:0080147 lymphoblastic lymphoma DOID:0080147 A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7055 A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood. NCI:C7210 Childhood T lymphoblastic lymphoma disease_ontology DOID:0080148 T-cell childhood lymphoblastic lymphoma DOID:0080148 A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood. url:https://www.dana-farber.org/cancer-care/types/childhood-lymphoblastic-lymphoma An acute monocytic leukemia occurring in adults. NCI:C8263 disease_ontology DOID:0080149 adult acute monocytic leukemia DOID:0080149 An acute monocytic leukemia occurring in adults. url:https://en.wikipedia.org/wiki/Acute_monocytic_leukemia A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. MESH:C535668 MIM:201400 disease_ontology DOID:0080150 adrenocorticotropic hormone deficiency DOID:0080150 A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. url:https://en.wikipedia.org/wiki/Adrenocorticotropic_hormone_deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/27041067 A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting. GARD:540 MESH:C536038 MIM:201450 ORDO:42 disease_ontology DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency DOID:0080153 A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting. url:http://rarediseases.org/rare-diseases/medium-chain-acyl-coa-dehydrogenase-deficiency/ url:https://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids. GARD:4822 MIM:201470 ORDO:26792 disease_ontology DOID:0080154 short chain acyl-CoA dehydrogenase deficiency DOID:0080154 A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids. url:http://rarediseases.org/rare-diseases/short-chain-acyl-coa-dehydrogenase-deficiency-scad/ A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids. GARD:5508 MIM:201475 ORDO:26793 VLCAD deficiency disease_ontology DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency DOID:0080155 A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids. url:http://rarediseases.org/rare-diseases/very-long-chain-acyl-coa-dehydrogenase-deficiency-lcad/ url:https://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene. GARD:555 MIM:300200 congenital adrenal hypoplasia disease_ontology DOID:0080156 X-linked adrenal hypoplasia congenita DOID:0080156 An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene. url:http://www.ncbi.nlm.nih.gov/books/NBK1431/ url:https://en.wikipedia.org/wiki/X-linked_adrenal_hypoplasia_congenita url:https://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita#genes url:https://www.ncbi.nlm.nih.gov/pubmed/27376611 A keratitis that has_material_basis_in herpes simplex type infection. MESH:D007635 MESH:D016849 dendritic keratitis disease_ontology DOID:0080158 herpes simplex virus keratitis DOID:0080158 A keratitis that has_material_basis_in herpes simplex type infection. url:http://www.aao.org/eye-health/diseases/herpes-keratitis A fungal meningitis that has_material_basis_in Crypococcus fungal infection. MESH:D016919 disease_ontology DOID:0080159 Cryptococcal meningitis DOID:0080159 A fungal meningitis that has_material_basis_in Crypococcus fungal infection. url:https://medlineplus.gov/ency/article/000642.htm A retinitis that has_material_basis_in Cytomegalovirus. GARD:9531 MESH:D017726 CMV retinitis disease_ontology DOID:0080160 Cytomegalovirus retinitis DOID:0080160 A retinitis that has_material_basis_in Cytomegalovirus. url:https://medlineplus.gov/ency/article/000665.htm A candidiasis that is characterized by Candida infection located_in the skin. MESH:D002179 disease_ontology DOID:0080161 cutaneous candidiasis DOID:0080161 A candidiasis that is characterized by Candida infection located_in the skin. url:https://medlineplus.gov/ency/article/000880.htm A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus. GARD:10747 MESH:D008181 disease_ontology DOID:0080162 lupus nephritis DOID:0080162 A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus. url:https://en.wikipedia.org/wiki/Lupus_nephritis#cite_note-1 url:https://medlineplus.gov/ency/article/000481.htm An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15. GARD:13198 MIM:617099 autoinflammation, panniculitis and dermatosis syndrome otulin-related autoinflammatory syndrome disease_ontology DOID:0080163 otulipenia DOID:0080163 An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15. url:http://www.omim.org/entry/617099?search=617099&highlight=617099 url:https://www.ncbi.nlm.nih.gov/pubmed/27523608 url:https://www.ncbi.nlm.nih.gov/pubmed/27559085 url:https://www.nih.gov/news-events/news-releases/nih-researchers-discover-otulipenia-new-inflammatory-disease A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. NCI:C84270 UMLS_CUI:C2827356 Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms disease_ontology DOID:0080164 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 DOID:0080164 A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. url:https://www.ncbi.nlm.nih.gov/pubmed/19357394 url:https://www.ncbi.nlm.nih.gov/pubmed/23489324 A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. NCI:C84275 Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement disease_ontology DOID:0080165 myeloid and lymphoid neoplasms associated with PDGFRA rearrangement DOID:0080165 A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84275&key=n472778324&b=1&n=null A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. NCI:C84276 Myeloid and Lymphoid Neoplasms with PDGFRB Rearrangement disease_ontology DOID:0080166 myeloid and lymphoid neoplasms associated with PDGFRB rearrangement DOID:0080166 A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84276&key=n472778324&b=1&n=null A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. NCI:C84277 disease_ontology DOID:0080167 myeloid and lymphoid neoplasms associated with FGFR1 abnormalities DOID:0080167 A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84277&key=n472778324&b=1&n=null A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth. GARD:5274 MESH:D018785 MIM:605067 disease_ontology DOID:0080169 tricuspid atresia DOID:0080169 A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth. url:https://medlineplus.gov/ency/article/001110.htm A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors. GARD:10878 MIM:610455 disease_ontology DOID:0080170 normophosphatemic familial tumoral calcinosis DOID:0080170 A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors. url:https://en.wikipedia.org/wiki/Normophosphatemic_familial_tumoral_calcinosis url:https://www.ncbi.nlm.nih.gov/pubmed/21160498 A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing. GARD:7792 MIM:189960 esophageal atresia and/or tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia disease_ontology DOID:0080171 esophageal atresia/tracheoesophageal fistula DOID:0080171 A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing. url:https://ghr.nlm.nih.gov/condition/esophageal-atresia-tracheoesophageal-fistula An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. MESH:C536512 MIM:PS610460 TPMT deficiency thiopurine S-methyltransferase deficiency disease_ontology DOID:0080172 poor metabolism of thiopurines DOID:0080172 An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. url:https://ghr.nlm.nih.gov/condition/thiopurine-s-methyltransferase-deficiency#statistics A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. MIM:258040 ORDO:322 exstrophy-epispadias complex disease_ontology DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex DOID:0080173 A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. url:https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/ url:https://www.ncbi.nlm.nih.gov/pubmed/22055685 A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening. ICD10CM:Q64.10 ICD9CM:753.5 MESH:D001746 MIM:600057 ORDO:93930 disease_ontology DOID:0080174 bladder exstrophy DOID:0080174 A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening. url:https://en.wikipedia.org/wiki/Bladder_exstrophy url:https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/ url:https://www.ncbi.nlm.nih.gov/pubmed/21929991 url:https://www.ncbi.nlm.nih.gov/pubmed/22055685 A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel. MIM:258040 ORDO:93929 disease_ontology DOID:0080175 cloacal exstrophy DOID:0080175 A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel. url:https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/ A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection. ICD10CM:A39.0 ICD9CM:036.0 MESH:D008585 disease_ontology DOID:0080176 meningococcal meningitis DOID:0080176 A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection. url:http://www.who.int/mediacentre/factsheets/fs141/en/ url:https://en.wikipedia.org/wiki/Meningococcal_disease url:https://www.cdc.gov/meningococcal/about/symptoms.html A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver. GARD:13004 ICD10CM:K76.5 MESH:D006504 veno-occlusive disease disease_ontology DOID:0080177 hepatic veno-occlusive disease MESH:D006504 DOID:0080177 A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver. url:https://en.wikipedia.org/wiki/Hepatic_veno-occlusive_disease A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract. MESH:D052016 disease_ontology DOID:0080178 mucositis DOID:0080178 A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract. url:https://en.wikipedia.org/wiki/Mucositis A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection. ICD10CM:G00.0 ICD9CM:320.0 MESH:D008583 disease_ontology DOID:0080179 haemophilus meningitis DOID:0080179 A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection. url:https://en.wikipedia.org/wiki/Haemophilus_meningitis A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus (Orthoflavivirus zikaense) infection in utero. SNOMEDCT_US_2025_05_01:762725007 UMLS_CUI:C4546023 ZIKV congenital infection congenital Zika syndrome disease_ontology DOID:0080180 Zika virus congenital syndrome UMLS_CUI:C4546023 DOID:0080180 MESH:D000071243 A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus (Orthoflavivirus zikaense) infection in utero. url:https://pmc.ncbi.nlm.nih.gov/articles/PMC5823548/ url:https://www.cdc.gov/zika/czs/index.html url:https://www.who.int/news-room/fact-sheets/detail/zika-virus A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. MIM:612674 ORDO:171848 polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract disease_ontology DOID:0080181 PHARC syndrome DOID:0080181 A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. url:https://www.ncbi.nlm.nih.gov/pubmed/24697911 A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. disease_ontology DOID:0080182 mixed fibrolamellar hepatocellular carcinoma DOID:0080182 A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. url:https://wjso.biomedcentral.com/articles/10.1186/s12957-016-0903-8 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880064/ A colon carcinoma that is characterized by a solid growth pattern. disease_ontology DOID:0080183 medullary colon carcinoma DOID:0080183 A colon carcinoma that is characterized by a solid growth pattern. url:http://www.pathologyoutlines.com/topic/colontumormedullary.html url:https://www.ncbi.nlm.nih.gov/pubmed/10414504 url:https://www.ncbi.nlm.nih.gov/pubmed/20811712 A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin). indeterminate bronchioloalveolar carcinoma mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma disease_ontology DOID:0080184 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma DOID:0080184 A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin). url:https://en.wikipedia.org/wiki/Adenocarcinoma_in_situ_of_the_lung url:https://www.ncbi.nlm.nih.gov/pubmed/20073606 A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. disease_ontology DOID:0080185 mucinous bronchioloalveolar adenocarcinoma DOID:0080185 A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. url:https://www.ncbi.nlm.nih.gov/pubmed/16463270 A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. disease_ontology DOID:0080186 nonmucinous bronchioloalveolar adenocarcinoma DOID:0080186 A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. url:https://www.ncbi.nlm.nih.gov/pubmed/17616987 A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene. ICDO:9963/3 NCI:C3179 disease_ontology DOID:0080187 chronic neutrophilic leukemia DOID:0080187 A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene. url:https://en.wikipedia.org/wiki/Chronic_neutrophilic_leukemia A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. GARD:8225 ICDO:9945/3 NCI:C3178 disease_ontology DOID:0080188 chronic myelomonocytic leukemia DOID:0080188 A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. url:https://en.wikipedia.org/wiki/Chronic_myelomonocytic_leukemia url:https://www.ncbi.nlm.nih.gov/pubmed/30367269 url:https://www.ncbi.nlm.nih.gov/pubmed/31093889 A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen. disease_ontology DOID:0080189 malignant hemangioma DOID:0080189 A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen. url:http://www.rare-cancer.org/info/hemangioendothelioma.php url:https://en.wikipedia.org/wiki/Hemangioma A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. NCI:C3800 disease_ontology DOID:0080190 malignant epithelioid hemangioendothelioma DOID:0080190 A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C3800 A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene. GARD:12800 disease_ontology DOID:0080191 PTEN hamartoma tumor syndrome DOID:0080191 A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene. url:https://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome/ url:https://www.ncbi.nlm.nih.gov/books/NBK1488/ url:https://www.ncbi.nlm.nih.gov/pubmed/22628360 A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. disease_ontology DOID:0080192 relapsed/refractory diffuse large B-cell lymphoma DOID:0080192 A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. url:https://www.ncbi.nlm.nih.gov/pubmed/22160081 An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus. ORDO:420402 canal dehiscence syndrome superior canal dehiscence superior canal syndrome superior semicircular canal dehiscence syndrome third mobile window syndrome disease_ontology DOID:0080193 superior semicircular canal dehiscence DOID:0080193 An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus. url:https://www.ncbi.nlm.nih.gov/pubmed/10651428/ url:https://www.ncbi.nlm.nih.gov/pubmed/28503164 url:https://www.ncbi.nlm.nih.gov/pubmed/28790965 A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. GARD:3889 MIM:PS254940 ORDO:1358 disease_ontology DOID:0080194 Carey-Fineman-Ziter syndrome DOID:0080194 A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. url:https://www.ncbi.nlm.nih.gov/pubmed/28681861 url:https://www.omim.org/entry/254940?search=254940&highlight=254940 A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. GARD:8341 MIM:248800 ORDO:559 Garland-Moorhouse syndrome Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration hereditary oligophrenic cerebello-lental degeneration disease_ontology DOID:0080195 Marinesco-Sjogren syndrome DOID:0080195 A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. url:https://ghr.nlm.nih.gov/condition/marinesco-sjogren-syndrome#synonyms url:https://www.omim.org/entry/248800?search=248800&highlight=248800 A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia. GARD:10056 MIM:610536 ORDO:79113 MFDM syndrome mandibulofacial dysostosis with microcephaly mandibulofacial dysostosis-microcephaly syndrome disease_ontology DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type DOID:0080196 A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia. url:https://rarediseases.info.nih.gov/diseases/10056/mandibulofacial-dysostosis-with-microcephaly url:https://www.ncbi.nlm.nih.gov/books/NBK214367/ A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. MIM:617404 disease_ontology DOID:0080197 congenital muscular dystrophy with cataracts and intellectual disability DOID:0080197 A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/28190459 An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b. GARD:9511 MIM:500000 disease_ontology DOID:0080198 infantile histiocytoid cardiomyopathy DOID:0080198 An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b. url:https://www.ncbi.nlm.nih.gov/pubmed/10960495 A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. EFO:1001951 MESH:D015179 NCI:C2955 UMLS_CUI:C0009402 disease_ontology DOID:0080199 colorectal carcinoma DOID:0080199 A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C4978 A renal agenesis that is characterized by the absence of both kidneys at birth. ORDO:1848 disease_ontology DOID:0080200 bilateral renal aplasia DOID:0080200 A renal agenesis that is characterized by the absence of both kidneys at birth. url:https://rarediseases.org/rare-diseases/renal-agenesis-bilateral/ A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability. DOID:0070312 GARD:8422 MIM:261540 Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome disease_ontology DOID:0080201 Peters plus syndrome DOID:0080201 A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability. url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=709 url:https://en.wikipedia.org/wiki/Peters-plus_syndrome url:https://ghr.nlm.nih.gov/condition/peters-plus-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1464/ url:https://www.ncbi.nlm.nih.gov/pubmed/25544610 An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. GARD:5743 ICDO:8200/3 MESH:D003528 NCI:C2970 disease_ontology DOID:0080202 adenoid cystic carcinoma DOID:0080202 An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. url:http://codes.iarc.fr/code/2592 url:https://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma url:https://meshb.nlm.nih.gov/record/ui?ui=D003528 A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons. ORDO:93101 disease_ontology DOID:0080204 renal hypoplasia DOID:0080204 A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons. url:https://www.nature.com/articles/pr2010138 A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. MESH:C566906 MIM:PS610805 ORDO:93545 Congenital anomalies of the kidney and urinary tract Renal or urinary tract malformation disease_ontology DOID:0080205 CAKUT DOID:0080205 A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. url:https://www.jci.org/articles/view/95300 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468264/ url:https://www.ncbi.nlm.nih.gov/pubmed/25313840 A CAKUT that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32. MIM:610805 Congenital anomalies of the kidney and urinary tract 1 disease_ontology DOID:0080206 CAKUT1 DOID:0080206 A CAKUT that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32. url:https://www.ncbi.nlm.nih.gov/pubmed/23862974 A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14. MIM:143400 Congenital anomalies of the kidney and urinary tract 2 disease_ontology DOID:0080207 CAKUT2 DOID:0080207 A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14. url:https://www.ncbi.nlm.nih.gov/pubmed/26235987 A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol. DOID:0080546 MESH:D065626 MIM:613282 MIM:613387 MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease NAFL non-alcoholic fatty liver nonalcoholic fatty liver disease_ontology DOID:0080208 metabolic dysfunction-associated steatotic liver disease DOID:0080208 A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol. url:https://pubmed.ncbi.nlm.nih.gov/37364816/ MAFLD MASLD NAFLD NAFL A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. MIM:616084 SIFD disease_ontology DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay DOID:0080209 A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. url:https://www.ncbi.nlm.nih.gov/pubmed/23553769 url:https://www.ncbi.nlm.nih.gov/pubmed/25193871 SIFD A large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis. ICD10CM:C85.2 ORDO:98838 Large cell lymphoma of the mediastinum Mediastinal diffuse large-cell lymphoma with sclerosis Primary mediastinal clear cell lymphoma of B-cell type disease_ontology DOID:0080210 primary mediastinal B-cell lymphoma DOID:0080210 A large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis. url:https://www.ncbi.nlm.nih.gov/pubmed/28318892 A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease. NCI:C8863 disease_ontology DOID:0080211 nodal marginal zone lymphoma DOID:0080211 A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C8863 url:https://www.ncbi.nlm.nih.gov/pubmed/26989202 A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene. MIM:263200 pkd3 polycystic kidney and hepatic disease 1 polycystic kidney disease 4 with or without hepatic disease polycystic kidney disease, autosomal recessive polycystic kidney disease, infantile, type i disease_ontology DOID:0080212 polycystic kidney disease 4 DOID:0080212 A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene. url:https://www.omim.org/entry/173900 A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits. GARD:4439 MIM:175860 disease_ontology DOID:0080213 punctate palmoplantar keratoderma type II DOID:0080213 A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits. url:https://pubmed.ncbi.nlm.nih.gov/8651714/ A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. MIM:148600 MIM:614936 punctate palmoplantar keratoderma type 1A punctate palmoplantar keratoderma type 1B disease_ontology DOID:0080214 punctate palmoplantar keratoderma type I DOID:0080214 A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. url:https://pubmed.ncbi.nlm.nih.gov/23000146/ A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. MIM:300607 DEE8 EIEE8 early infantile epileptic encephalopathy 8 disease_ontology DOID:0080215 developmental and epileptic encephalopathy 8 DOID:0080215 A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15215304 url:https://www.ncbi.nlm.nih.gov/pubmed/21633362 DEE8 EIEE8 An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum. GARD:54 MESH:C535720 MIM:223400 disease_ontology DOID:0080216 duodenal atresia DOID:0080216 An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum. url:https://en.wikipedia.org/wiki/Duodenal_atresia A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31. GARD:12097 ICD10CM:E75.5 MIM:PS278000 ORDO:275761 UMLS_CUI:C5574740 LAL deficiency LAL-D disease_ontology DOID:0080217 lysosomal acid lipase deficiency ICD10CM:E75.5 GARD:12097 MIM:PS278000 ORDO:275761 UMLS_CUI:C5574740 DOID:0080217 A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31. url:https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/ url:https://www.ncbi.nlm.nih.gov/books/NBK395569/ LAL-D A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung. GARD:4997 MIM:173600 disease_ontology DOID:0080218 primary spontaneous pneumothorax DOID:0080218 A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung. url:https://ghr.nlm.nih.gov/condition/primary-spontaneous-pneumothorax A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12. MIM:145680 disease_ontology DOID:0080219 dystransthyretinemic hyperthyroxinemia DOID:0080219 A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12. url:https://pubmed.ncbi.nlm.nih.gov/1979335/ disease_ontology DOID:0080220 obsolete major affective disorder 1 true DOID:0080220 disease_ontology DOID:0080221 obsolete major affective disorder 2 true DOID:0080221 A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS. GARD:10680 MIM:603233 ORDO:94089 PHP Ib disease_ontology DOID:0080222 MeSH obsoleted this term and ID, merged with parent term.[LS] pseudohypoparathyroidism type 1B DOID:0080222 A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS. url:https://pubmed.ncbi.nlm.nih.gov/14561710/ url:https://pubmed.ncbi.nlm.nih.gov/15592469/ url:https://www.ncbi.nlm.nih.gov/pubmed/6301273 url:https://www.ncbi.nlm.nih.gov/pubmed/6325502 PHP Ib A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles. GARD:2826 MESH:D053546 MIM:PS144200 NCI:C84693 ORDO:2199 UMLS_CUI:C1721006 EPPK disease_ontology DOID:0080223 epidermolytic palmoplantar keratoderma GARD:2826 MESH:D053546 MIM:PS144200 NCI:C84693 ORDO:2199 UMLS_CUI:C1721006 DOID:0080223 A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles. url:https://www.ncbi.nlm.nih.gov/pubmed/7544663 EPPK An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. GARD:2139 MIM:131750 disease_ontology DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa DOID:0080224 An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. url:https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. MIM:617839 disease_ontology DOID:0080225 amyotrophic lateral sclerosis type 23 DOID:0080225 An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. url:https://pubmed.ncbi.nlm.nih.gov/28469040/ An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23. MIM:617854 autosomal dominant intellectual developmental disorder-56 autosomal dominant mental retardation 56 disease_ontology DOID:0080226 autosomal dominant intellectual developmental disorder 56 DOID:0080226 An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23. url:https://www.ncbi.nlm.nih.gov/pubmed/26822784 url:https://www.ncbi.nlm.nih.gov/pubmed/29100083 An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22. MIM:617831 autosomal dominant intellectual developmental disorder-55 with seizures autosomal dominant mental retardation 55 disease_ontology DOID:0080227 autosomal dominant intellectual developmental disorder 55 DOID:0080227 An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22. url:https://www.ncbi.nlm.nih.gov/pubmed/29100083 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32. MIM:617798 autosomal dominant mental retardation 53 disease_ontology DOID:0080228 autosomal dominant intellectual developmental disorder 53 DOID:0080228 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32. url:https://pubmed.ncbi.nlm.nih.gov/29100089/ disease_ontology DOID:0080229 obsolete autosomal dominant mental retardation 61 true DOID:0080229 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13. MIM:617799 autosomal dominant mental retardation 54 disease_ontology DOID:0080230 autosomal dominant intellectual developmental disorder 54 DOID:0080230 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13. url:https://pubmed.ncbi.nlm.nih.gov/29100089/ An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22. MIM:617796 autosomal dominant mental retardation 52 disease_ontology DOID:0080231 autosomal dominant intellectual developmental disorder 52 DOID:0080231 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22. url:https://pubmed.ncbi.nlm.nih.gov/23033978/ An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13. MIM:617788 autosomal dominant mental retardation 51 disease_ontology DOID:0080232 autosomal dominant intellectual developmental disorder 51 DOID:0080232 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13. url:https://pubmed.ncbi.nlm.nih.gov/28191889/ An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31. MIM:617787 autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities autosomal dominant mental retardation 50 disease_ontology DOID:0080233 autosomal dominant intellectual developmental disorder 50 DOID:0080233 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31. url:https://pubmed.ncbi.nlm.nih.gov/28191889/ An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36. GARD:13584 MESH:C536208 MIM:617752 Baraitser syndrome CLABARS autosomal dominant intellectual disability 49 autosomal dominant mental retardation 49 disease_ontology DOID:0080234 Clark-Baraitser syndrome DOID:0080234 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36. url:https://pubmed.ncbi.nlm.nih.gov/27848077/ CLABARS An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22. MIM:617751 autosomal dominant mental retardation 48 disease_ontology DOID:0080235 autosomal dominant intellectual developmental disorder 48 DOID:0080235 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22. url:https://pubmed.ncbi.nlm.nih.gov/28886345/ An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13. MIM:617600 autosomal dominant mental retardation 45 disease_ontology DOID:0080236 autosomal dominant intellectual developmental disorder 45 DOID:0080236 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/28288114/ An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14. MIM:617601 autosomal dominant mental retardation 46 disease_ontology DOID:0080237 autosomal dominant intellectual developmental disorder 46 DOID:0080237 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14. url:https://pubmed.ncbi.nlm.nih.gov/28669405/ An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22. MIM:617635 autosomal dominant mental retardation 47 disease_ontology DOID:0080238 autosomal dominant intellectual developmental disorder 47 DOID:0080238 An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22. url:https://pubmed.ncbi.nlm.nih.gov/28119487/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13. DOID:0080229 MIM:617773 Alwadei syndrome autosomal recessive intellectual developmental disorder-61 autosomal recessive mental retardation 61 disease_ontology DOID:0080239 autosomal recessive intellectual developmental disorder 61 DOID:0080239 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13. url:https://www.ncbi.nlm.nih.gov/pubmed/27612186 url:https://www.omim.org/entry/617773 A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1. MIM:300997 MRX106 X-linked mental retardation 106 disease_ontology DOID:0080240 non-syndromic X-linked intellectual disability 106 DOID:0080240 A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1. url:https://pubmed.ncbi.nlm.nih.gov/28302723/ url:https://pubmed.ncbi.nlm.nih.gov/28584052/ MRX106 A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28. MIM:300998 disease_ontology DOID:0080241 syndromic X-linked mental retardation 35 DOID:0080241 A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28. url:https://pubmed.ncbi.nlm.nih.gov/26290468/ A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22. MIM:301008 disease_ontology DOID:0080242 syndromic X-linked mental retardation Hough type DOID:0080242 A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22. url:https://pubmed.ncbi.nlm.nih.gov/28098945/ An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene. MIM:617607 disease_ontology DOID:0080243 amelogenesis imperfecta type 3B DOID:0080243 An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene. url:https://pubmed.ncbi.nlm.nih.gov/27412008/ A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28. MIM:301006 disease_ontology DOID:0080244 Galloway-Mowat syndrome 2 DOID:0080244 A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28. url:https://pubmed.ncbi.nlm.nih.gov/28805828/ A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11. MIM:617729 disease_ontology DOID:0080245 Galloway-Mowat syndrome 3 DOID:0080245 A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11. url:https://pubmed.ncbi.nlm.nih.gov/28805828/ A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13. MIM:617730 disease_ontology DOID:0080246 Galloway-Mowat syndrome 4 DOID:0080246 A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13. url:https://pubmed.ncbi.nlm.nih.gov/28805828/ A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13. MIM:617731 disease_ontology DOID:0080247 Galloway-Mowat syndrome 5 DOID:0080247 A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13. url:https://pubmed.ncbi.nlm.nih.gov/28805828/ An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34. MIM:617524 disease_ontology DOID:0080248 erythrokeratodermia variabilis et progressiva 2 DOID:0080248 An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34. url:https://pubmed.ncbi.nlm.nih.gov/12648223/ An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22. MIM:617525 disease_ontology DOID:0080249 erythrokeratodermia variabilis et progressiva 3 DOID:0080249 An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22. url:https://pubmed.ncbi.nlm.nih.gov/25398053/ An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21. MIM:617526 disease_ontology DOID:0080250 erythrokeratodermia variabilis et progressiva 4 DOID:0080250 An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21. url:https://pubmed.ncbi.nlm.nih.gov/28575652/ An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13. MIM:617756 disease_ontology DOID:0080251 erythrokeratodermia variabilis et progressiva 5 DOID:0080251 An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/27965375/ A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21. MIM:617560 disease_ontology DOID:0080252 spastic ataxia 8 DOID:0080252 A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21. url:https://pubmed.ncbi.nlm.nih.gov/28575651/ A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality. MIM:617562 disease_ontology DOID:0080253 Meckel syndrome 13 DOID:0080253 A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality. url:https://pubmed.ncbi.nlm.nih.gov/26123494/ An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. MIM:617563 disease_ontology DOID:0080254 orofaciodigital syndrome XVI DOID:0080254 An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. url:https://pubmed.ncbi.nlm.nih.gov/26518474/ A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12. MIM:617564 disease_ontology DOID:0080255 Meier-Gorlin syndrome 8 DOID:0080255 A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12. url:https://pubmed.ncbi.nlm.nih.gov/28198391/ A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11. MIM:617565 disease_ontology DOID:0080256 Perrault syndrome 6 DOID:0080256 A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11. url:https://pubmed.ncbi.nlm.nih.gov/28449065/ An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13. MIM:617574 disease_ontology DOID:0080257 autosomal recessive congenital ichthyosis 13 DOID:0080257 An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/28369735/ An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13. MIM:617571 disease_ontology DOID:0080258 autosomal recessive congenital ichthyosis 14 DOID:0080258 An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/28575648/ An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21. MIM:617584 SCAR25 disease_ontology DOID:0080259 autosomal recessive spinocerebellar ataxia 25 DOID:0080259 An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21. url:https://www.ncbi.nlm.nih.gov/pubmed/26812546 SCAR25 An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13. MIM:617633 SCAR26 disease_ontology DOID:0080260 autosomal recessive spinocerebellar ataxia 26 DOID:0080260 An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/28002403 SCAR26 An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15. MIM:617637 disease_ontology DOID:0080261 autosomal recessive nonsyndromic deafness 106 DOID:0080261 An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15. url:https://pubmed.ncbi.nlm.nih.gov/26282398/ An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25. MIM:617639 disease_ontology DOID:0080262 autosomal recessive nonsyndromic deafness 107 DOID:0080262 An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25. url:https://pubmed.ncbi.nlm.nih.gov/26881968/ An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31. MIM:617654 disease_ontology DOID:0080263 autosomal recessive nonsyndromic deafness 108 DOID:0080263 An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31. url:https://pubmed.ncbi.nlm.nih.gov/27162350/ An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the CTNNB1 gene on chromosome 3p22.1. MIM:617572 EVR7 disease_ontology DOID:0080264 exudative vitreoretinopathy 7 DOID:0080264 An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the CTNNB1 gene on chromosome 3p22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/28575650 EVR7 A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21. MIM:617575 disease_ontology DOID:0080265 nephrotic syndrome type 14 DOID:0080265 A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21. url:https://www.ncbi.nlm.nih.gov/pubmed/28165343 url:https://www.ncbi.nlm.nih.gov/pubmed/30683667 url:https://www.omim.org/entry/617575 A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21. MIM:617577 disease_ontology DOID:0080266 primary ciliary dyskinesia 37 DOID:0080266 A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21. url:https://pubmed.ncbi.nlm.nih.gov/25927852/ An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the DMXL2 gene on chromosome 15q21. MIM:617605 disease_ontology DOID:0080267 autosomal dominant nonsyndromic deafness 71 DOID:0080267 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the DMXL2 gene on chromosome 15q21. url:https://pubmed.ncbi.nlm.nih.gov/27657680/ An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21. MIM:617606 disease_ontology DOID:0080268 autosomal dominant nonsyndromic deafness 72 DOID:0080268 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21. url:https://pubmed.ncbi.nlm.nih.gov/28013291/ An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21. MIM:617663 disease_ontology DOID:0080269 autosomal dominant nonsyndromic deafness 73 DOID:0080269 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21. url:https://pubmed.ncbi.nlm.nih.gov/29309402/ An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. MIM:617772 disease_ontology DOID:0080270 autosomal dominant nonsyndromic deafness 34 DOID:0080270 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. url:https://pubmed.ncbi.nlm.nih.gov/28847925/ A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21. MIM:617609 disease_ontology DOID:0080271 nephrotic syndrome type 15 DOID:0080271 A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21. url:https://www.ncbi.nlm.nih.gov/pubmed/27932480 A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13. MIM:617783 disease_ontology DOID:0080272 nephrotic syndrome type 16 DOID:0080272 A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/25961457 A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22. MIM:617610 disease_ontology DOID:0080273 polycystic kidney disease 5 DOID:0080273 A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22. url:https://www.omim.org/entry/617610 A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21. MIM:617613 disease_ontology DOID:0080274 multiple mitochondrial dysfunctions syndrome 5 DOID:0080274 A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21. url:https://www.ncbi.nlm.nih.gov/pubmed/28356563 url:https://www.ncbi.nlm.nih.gov/pubmed/29623423 url:https://www.ncbi.nlm.nih.gov/pubmed/31016283 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37. MIM:617622 disease_ontology DOID:0080275 Joubert syndrome 30 DOID:0080275 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37. url:https://pubmed.ncbi.nlm.nih.gov/28625504/ A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. disease_ontology DOID:0080276 OMIM notes Meckel syndrome 13 and Joubert syndrome 29 are both caused by mutation in the TMEM107 gene [LS] Joubert syndrome 29 DOID:0080276 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. url:https://pubmed.ncbi.nlm.nih.gov/26595381/ A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. MIM:617761 disease_ontology DOID:0080277 Joubert syndrome 31 DOID:0080277 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. url:https://pubmed.ncbi.nlm.nih.gov/27208211/ A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24. MIM:617757 disease_ontology DOID:0080278 Joubert syndrome 32 DOID:0080278 A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24. url:https://pubmed.ncbi.nlm.nih.gov/28965847/ A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21. MIM:617767 disease_ontology DOID:0080279 Joubert syndrome 33 DOID:0080279 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21. url:https://pubmed.ncbi.nlm.nih.gov/26167768/ A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12. MIM:617626 disease_ontology DOID:0080280 gingival fibromatosis 5 DOID:0080280 A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12. url:https://pubmed.ncbi.nlm.nih.gov/28686854/ A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11. MIM:617629 disease_ontology DOID:0080281 schizophrenia 19 DOID:0080281 A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11. url:https://pubmed.ncbi.nlm.nih.gov/28628109/ A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11. MIM:617665 DEE56 early infantile epileptic encephalopathy 56 disease_ontology DOID:0080282 developmental and epileptic encephalopathy 56 DOID:0080282 A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11. url:https://www.ncbi.nlm.nih.gov/pubmed/28777935 DEE56 A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22. MIM:617599 DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14 disease_ontology DOID:0080283 developmental and epileptic encephalopathy 55 DOID:0080283 A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22. url:https://pubmed.ncbi.nlm.nih.gov/32042915/ url:https://www.ncbi.nlm.nih.gov/pubmed/28334793 DEE55 GPIBD14 A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31. MIM:617771 DEE57 early infantile epileptic encephalopathy 57 disease_ontology DOID:0080284 developmental and epileptic encephalopathy 57 DOID:0080284 A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31. url:https://pubmed.ncbi.nlm.nih.gov/29740868/ url:https://pubmed.ncbi.nlm.nih.gov/32038177/ url:https://www.ncbi.nlm.nih.gov/pubmed/29069600 DEE57 A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21. MIM:617830 DEE58 early infantile epileptic encephalopathy 58 disease_ontology DOID:0080285 developmental and epileptic encephalopathy 58 DOID:0080285 A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21. url:https://www.ncbi.nlm.nih.gov/pubmed/29100083 DEE58 An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24. MIM:617691 disease_ontology DOID:0080286 spinocerebellar ataxia 44 DOID:0080286 An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24. url:https://pubmed.ncbi.nlm.nih.gov/28886343/ An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33. MIM:617769 disease_ontology DOID:0080287 spinocerebellar ataxia 45 DOID:0080287 An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33. url:https://pubmed.ncbi.nlm.nih.gov/29053796/ An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13. MIM:617770 disease_ontology DOID:0080288 spinocerebellar ataxia 46 DOID:0080288 An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/29053796/ An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28. MIM:617926 disease_ontology DOID:0080289 orofaciodigital syndrome XVII DOID:0080289 An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28. url:https://pubmed.ncbi.nlm.nih.gov/23459408/ A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21. MIM:617907 ECYT5 disease_ontology DOID:0080290 familial erythrocytosis 5 DOID:0080290 A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21. url:https://www.ncbi.nlm.nih.gov/pubmed/29514032 ECYT5 A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. MIM:617904 DEE59 early infantile epileptic encephalopathy 59 disease_ontology DOID:0080291 developmental and epileptic encephalopathy 59 DOID:0080291 A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/25262651 DEE59 A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. MIM:617871 disease_ontology DOID:0080292 retinitis pigmentosa 81 DOID:0080292 A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. url:https://pubmed.ncbi.nlm.nih.gov/28973684/ An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. MIM:617866 disease_ontology DOID:0080293 short-rib thoracic dysplasia 18 with polydactyly DOID:0080293 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. url:https://pubmed.ncbi.nlm.nih.gov/28400947/ A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21. MIM:617882 disease_ontology DOID:0080294 Charcot-Marie-Tooth disease dominant intermediate G DOID:0080294 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21. url:https://pubmed.ncbi.nlm.nih.gov/28364294/ An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24. MIM:617895 disease_ontology DOID:0080295 short-rib thoracic dysplasia 19 with or without polydactyly DOID:0080295 An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24. url:https://pubmed.ncbi.nlm.nih.gov/27666822/ A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. MIM:617899 disease_ontology DOID:0080296 hypomyelinating leukodystrophy 14 DOID:0080296 A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. url:https://pubmed.ncbi.nlm.nih.gov/28931644/ A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12. MIM:617808 disease_ontology DOID:0080297 Coffin-Siris syndrome 6 DOID:0080297 A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12. url:https://pubmed.ncbi.nlm.nih.gov/28124119/ A lipodystrophy that is characterized by complete loss of adipose tissue. disease_ontology DOID:0080298 complete generalized lipodystrophy DOID:0080298 A lipodystrophy that is characterized by complete loss of adipose tissue. url:https://rarediseases.org/rare-diseases/acquired-lipodystrophy/ A lipodystrophy that is characterized by partial loss of adipose tissue. disease_ontology DOID:0080299 partial lipodystrophy DOID:0080299 A lipodystrophy that is characterized by partial loss of adipose tissue. url:https://rarediseases.org/rare-diseases/acquired-lipodystrophy/ A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth. Lawrence syndrome disease_ontology DOID:0080300 acquired generalized lipodystrophy DOID:0080300 A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth. url:http://www.utsouthwestern.edu/media/files/2400/Generalized-Lawrence-Syndrome.pdf url:https://www.ncbi.nlm.nih.gov/pubmed/23287278 A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. GARD:8702 MESH:D065766 ORDO:2134 disease_ontology DOID:0080301 atypical hemolytic-uremic syndrome MESH:D065766 DOID:0080301 A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. url:https://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome#sourcesforpage url:https://rarediseases.info.nih.gov/diseases/8702/index#ref_2575 url:https://www.ncbi.nlm.nih.gov/pubmed/29226095 A sleep apnea that is characterized by a combination of central and obstructive sleep apnea. MESH:D012891 SNOMEDCT_US_2023_03_01:230493001 UMLS_CUI:C0338495 complex sleep apnea disease_ontology DOID:0080302 mixed sleep apnea DOID:0080302 A sleep apnea that is characterized by a combination of central and obstructive sleep apnea. url:https://en.wikipedia.org/wiki/Sleep_apnea#Mixed_apnea url:https://www.ncbi.nlm.nih.gov/pubmed/26681187 A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces. disease_ontology DOID:0080303 mucinous lung adenocarcinoma DOID:0080303 A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces. url:https://www.ncbi.nlm.nih.gov/pubmed/15628896 A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue. disease_ontology DOID:0080304 lung mucinous cystadenocarcinoma DOID:0080304 A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue. url:https://en.wikipedia.org/wiki/Mucinous_cystadenocarcinoma_of_the_lung url:https://www.ncbi.nlm.nih.gov/pubmed/14602331 A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus. disease_ontology DOID:0080305 signet ring lung adenocarcinoma DOID:0080305 A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus. url:https://www.ncbi.nlm.nih.gov/pubmed/16463270 A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells. disease_ontology DOID:0080306 solid adenocarcinoma with mucin production DOID:0080306 A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells. url:https://www.ncbi.nlm.nih.gov/pubmed/16463270 A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles. GARD:10529 MESH:C580316 MIM:PS601419 disease_ontology DOID:0080307 myofibrillar myopathy DOID:0080307 A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles. url:https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy url:https://rarediseases.info.nih.gov/diseases/10529/myofibrillar-myopathy url:https://www.ncbi.nlm.nih.gov/pubmed/23995273 A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12. MIM:617258 disease_ontology DOID:0080308 myofibrillar myopathy 8 DOID:0080308 A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12. url:https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23. MIM:613869 disease_ontology DOID:0080309 fatal infantile hypertonic myofibrillar myopathy DOID:0080309 A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/23995273 A syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that has_material_basis_in mutation in the oligophrenin-1 gene on chromosome Xq12. MIM:300486 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance disease_ontology DOID:0080311 Billuart-type X-linked syndromic intellectual developmental disorder DOID:0080311 A syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that has_material_basis_in mutation in the oligophrenin-1 gene on chromosome Xq12. url:https://pubmed.ncbi.nlm.nih.gov/20528889/ url:https://www.ncbi.nlm.nih.gov/pubmed/16158428 A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22. MIM:617523 NEDMHM disease_ontology DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations DOID:0080312 A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/28453519 NEDMHM A physical disorder that is characterized by fusion of maxilla and mandible. MESH:C563047 MIM:119550 ORDO:2016 SNOMEDCT_US_2023_03_01:403772000 UMLS_CUI:C0795898 CPLS syndrome syngnathia disease_ontology DOID:0080313 cleft palate-lateral synechia syndrome DOID:0080313 A physical disorder that is characterized by fusion of maxilla and mandible. url:https://www.ncbi.nlm.nih.gov/pubmed/24163560 url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016 A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1. MESH:C566579 MIM:602093 UMLS_CUI:C1838190 UMLS_CUI:C1865869 disease_ontology DOID:0080314 cone-rod dystrophy 14 DOID:0080314 A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/28125083 url:https://www.ncbi.nlm.nih.gov/pubmed/9425234 A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. GARD:3445 MESH:C536141 MIM:PS604004 ORDO:2478 SNOMEDCT_US_2023_03_01:703536004 UMLS_CUI:C1858854 megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome vacuolating megalencephalic leukoencephalopathy with subcortical cysts disease_ontology DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts DOID:0080315 A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. url:https://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13. MESH:C536141 MIM:604004 SNOMEDCT_US_2023_03_01:703536004 UMLS_CUI:C1858854 Van Der Knaap disease leukoencephalopathy with swelling and cysts disease_ontology DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 DOID:0080316 A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13. url:https://www.ncbi.nlm.nih.gov/pubmed/21419380 A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24. MIM:613926 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation disease_ontology DOID:0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B DOID:0080317 A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24. url:https://www.ncbi.nlm.nih.gov/pubmed/20517947 A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in the HEPACAM gene on chromosome 11q24. MIM:613925 disease_ontology DOID:0080318 megalencephalic leukoencephalopathy with subcortical cysts 2A DOID:0080318 A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in the HEPACAM gene on chromosome 11q24. url:https://www.ncbi.nlm.nih.gov/pubmed/20517947 url:https://www.ncbi.nlm.nih.gov/pubmed/21419380 A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1). MIM:300853 XMEN disease_ontology DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia DOID:0080319 A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1). url:https://ghr.nlm.nih.gov/condition/x-linked-immunodeficiency-with-magnesium-defect-epstein-barr-virus-infection-and-neoplasia#genes url:https://meshb.nlm.nih.gov/record/ui?ui=C536288 url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=317476 XMEN A central nervous system benign neoplasm the is located_in the peripheral nervous system. disease_ontology DOID:0080320 peripheral nervous system benign neoplasm DOID:0080320 A central nervous system benign neoplasm the is located_in the peripheral nervous system. url:https://www.mayoclinic.org/diseases-conditions/peripheral-nerve-tumors-benign/symptoms-causes/syc-20368680 A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system. disease_ontology DOID:0080321 autonomic nervous system benign neoplasm DOID:0080321 A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system. url:https://en.wikipedia.org/wiki/Autonomic_nervous_system A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure. MIM:PS173900 disease_ontology DOID:0080322 polycystic kidney disease DOID:0080322 A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure. url:https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/what-is-pkd A squamous cell carcinoma located in the pancreas. disease_ontology DOID:0080323 pancreatic squamous cell carcinoma DOID:0080323 A squamous cell carcinoma located in the pancreas. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437439/ A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34. MESH:C565346 MIM:191100 disease_ontology DOID:0080324 tuberous sclerosis 1 DOID:0080324 A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34. url:https://www.omim.org/entry/191100 A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13. MESH:C566021 MIM:613254 disease_ontology DOID:0080325 tuberous sclerosis 2 DOID:0080325 A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/28667702 url:https://www.omim.org/entry/613254 A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations. MESH:D024741 MIM:PS192600 NCI:C84773 ORDO:217569 SNOMEDCT_US_2023_03_01:83978005 UMLS_CUI:C0949658 disease_ontology DOID:0080326 familial hypertrophic cardiomyopathy DOID:0080326 A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations. url:https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy#genes A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23. MIM:236500 MARCH disease_ontology DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly DOID:0080327 A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23. url:https://www.ncbi.nlm.nih.gov/pubmed/?term=28264986 MARCH A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity. GARD:13349 MIM:615849 disease_ontology DOID:0080328 Culler-Jones syndrome DOID:0080328 A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity. url:https://www.ncbi.nlm.nih.gov/pubmed/?term=29298444 A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. MIM:272430 disease_ontology DOID:0080329 cold-induced sweating syndrome 1 DOID:0080329 A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. url:https://www.ncbi.nlm.nih.gov/books/NBK52917/ A cold-induced sweating syndrome that has_material_basis_in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13. MIM:610313 disease_ontology DOID:0080330 cold-induced sweating syndrome 2 DOID:0080330 A cold-induced sweating syndrome that has_material_basis_in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/20400119 A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15. MIM:617055 disease_ontology DOID:0080331 cold-induced sweating syndrome 3 DOID:0080331 A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15. url:https://www.ncbi.nlm.nih.gov/pubmed/27392078 An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. MESH:D000082882 MIM:PS109730 ORDO:402075 Familial bicuspid aortic valve disease_ontology DOID:0080332 bicuspid aortic valve disease DOID:0080332 An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402075 A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34. MIM:109730 disease_ontology DOID:0080333 aortic valve disease 1 DOID:0080333 A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/23388002 A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22. MIM:614823 disease_ontology DOID:0080334 aortic valve disease 2 DOID:0080334 A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22. url:https://www.ncbi.nlm.nih.gov/pubmed/22275001 A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35. GARD:1142 MIM:615418 NCI:C129977 ORDO:1369 disease_ontology DOID:0080335 mitochondrial DNA depletion syndrome 12b DOID:0080335 A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35. url:https://ghr.nlm.nih.gov/gene/SLC25A4#conditions url:https://www.ncbi.nlm.nih.gov/pubmed/22187496 url:https://www.ncbi.nlm.nih.gov/pubmed/27693233 A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29. MIM:616896 disease_ontology DOID:0080336 mitochondrial DNA depletion syndrome 14 DOID:0080336 A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29. url:https://www.ncbi.nlm.nih.gov/pubmed/26561570 url:https://www.ncbi.nlm.nih.gov/pubmed/28215579 url:https://www.ncbi.nlm.nih.gov/pubmed/28494813 A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle and has_material_basis_in homozygous mutation in the TFAM gene on chromosome 10q21. MIM:617156 disease_ontology DOID:0080337 mitochondrial DNA depletion syndrome 15 DOID:0080337 A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle and has_material_basis_in homozygous mutation in the TFAM gene on chromosome 10q21. url:https://ghr.nlm.nih.gov/gene/TFAM#conditions url:https://www.ncbi.nlm.nih.gov/pubmed/27448789 url:https://www.ncbi.nlm.nih.gov/pubmed/28215579 A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42. MIM:609820 ECYT3 disease_ontology DOID:0080338 familial erythrocytosis 3 DOID:0080338 A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/16407130 ECYT3 A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21. MIM:611783 ECYT4 disease_ontology DOID:0080339 familial erythrocytosis 4 DOID:0080339 A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21. url:https://www.ncbi.nlm.nih.gov/pubmed/18184961 ECYT4 disease_ontology DOID:0080340 obsolete X-linked dominant disease true DOID:0080340 disease_ontology DOID:0080341 obsolete X-linked recessive disease true DOID:0080341 A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems. MIM:300209 disease_ontology DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 DOID:0080342 A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems. url:https://www.ncbi.nlm.nih.gov/pubmed/16783569 A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. MIM:616860 disease_ontology DOID:0080343 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 DOID:0080343 A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. url:https://www.omim.org/entry/616860?search=616860&highlight=616860 A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. MESH:C536188 MIM:PS119580 Blepharo-cheilo-odontic syndrome disease_ontology DOID:0080344 blepharocheilodontic syndrome DOID:0080344 A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. url:https://www.ncbi.nlm.nih.gov/pubmed/28301459 A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22. MIM:119580 disease_ontology DOID:0080345 blepharocheilodontic syndrome 1 DOID:0080345 A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22. url:https://www.ncbi.nlm.nih.gov/pubmed/28301459 A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12. MIM:617681 disease_ontology DOID:0080346 blepharocheilodontic syndrome 2 DOID:0080346 A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12. url:https://www.ncbi.nlm.nih.gov/pubmed/28301459 An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones. ICDO:8700/3 Pheochromocytoma, malignant disease_ontology DOID:0080347 malignant pheochromocytoma DOID:0080347 An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones. url:https://www.omim.org/entry/171300 An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21. MIM:104300 Alzheimer's disease 1, early onset disease_ontology DOID:0080348 Alzheimer's disease 1 DOID:0080348 An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21. url:https://www.omim.org/entry/104300?search=104300&highlight=104300 A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31. DOID:0080423 MESH:C567847 MIM:612949 ORDO:353217 AGC1 deficiency early infantile epileptic encephalopathy 39 epileptic encephalopathy with global cerebral demyelination disease_ontology DOID:0080349 developmental and epileptic encephalopathy 39 DOID:0080349 A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31. url:https://pubmed.ncbi.nlm.nih.gov/19641205/ url:https://pubmed.ncbi.nlm.nih.gov/24515575/ url:https://www.omim.org/entry/612949?search=612949 A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13. ICD10CM:H35.5 MIM:617304 disease_ontology DOID:0080350 retinitis pigmentosa 77 DOID:0080350 A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13. url:https://www.omim.org/entry/617304 A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26. GARD:10939 ICD10CM:Q87.3 MIM:612918 ORDO:140944 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi disease_ontology DOID:0080351 CLOVES syndrome DOID:0080351 A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26. url:https://www.ncbi.nlm.nih.gov/pubmed/25209813 A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11. MIM:302960 Conradi-Hunermann Syndrome Happle syndrome disease_ontology DOID:0080352 X-linked chondrodysplasia punctata 2 DOID:0080352 A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11. url:https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2 A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22. MIM:300554 disease_ontology DOID:0080353 X-linked recessive hypophosphatemic rickets DOID:0080353 A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22. url:https://ghr.nlm.nih.gov/condition/hereditary-hypophosphatemic-rickets A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. GARD:10130 MIM:606232 ORDO:48652 22q13.3 deletion syndrome monosomy 22q13 syndrome disease_ontology DOID:0080354 Phelan-McDermid syndrome DOID:0080354 A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. url:https://en.wikipedia.org/wiki/22q13_deletion_syndrome url:https://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1198/ url:https://www.ncbi.nlm.nih.gov/pubmed/29719671 url:https://www.ncbi.nlm.nih.gov/pubmed/29896732 url:https://www.ncbi.nlm.nih.gov/pubmed/30089781 url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=48652 A gastrointestinal system cancer that is located_in the hepatobiliary system. disease_ontology DOID:0080355 hepatobiliary system cancer DOID:0080355 A gastrointestinal system cancer that is located_in the hepatobiliary system. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461147/ An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs. GARD:12521 ORDO:284264 disease_ontology DOID:0080356 IgG4-related disease DOID:0080356 An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs. url:https://rarediseases.info.nih.gov/diseases/12521/index url:https://www.ncbi.nlm.nih.gov/articles/PMC4760655/ url:https://www.nejm.org/doi/full/10.1056/NEJMra1104650 A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. MIM:604377 UMLS_CUI:C5399977 MC4DN2 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 disease_ontology DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 MIM:604377 UMLS_CUI:C5399977 DOID:0080357 A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. url:https://pubmed.ncbi.nlm.nih.gov/10746561/ MC4DN2 A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. MIM:615119 UMLS_CUI:C3554534 MC4DN6 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 disease_ontology DOID:0080358 mitochondrial complex IV deficiency nuclear type 6 MIM:615119 UMLS_CUI:C3554534 DOID:0080358 A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. url:https://pubmed.ncbi.nlm.nih.gov/10545952/ MC4DN6 A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. MIM:616500 UMLS_CUI:C4225154 MC4DN9 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 disease_ontology DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 MIM:616500 UMLS_CUI:C4225154 DOID:0080359 A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. url:https://pubmed.ncbi.nlm.nih.gov/12928484/ MC4DN9 A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. MIM:616501 UMLS_CUI:C4225304 MC4DN13 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 disease_ontology DOID:0080360 mitochondrial complex IV deficiency nuclear type 13 MIM:616501 UMLS_CUI:C4225304 DOID:0080360 A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. url:https://pubmed.ncbi.nlm.nih.gov/25339201/ MC4DN13 An inherited metabolic disorder characterized by the inability to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24. GARD:6447 MESH:C536561 MIM:602079 ORDO:468726 fish-odor syndrome disease_ontology DOID:0080361 trimethylaminuria DOID:0080361 An inherited metabolic disorder characterized by the inability to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24. url:https://ghr.nlm.nih.gov/condition/trimethylaminuria url:https://www.genome.gov/Genetic-Disorders/Trimethylaminuria A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22. MIM:313400 disease_ontology DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda DOID:0080362 A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22. url:https://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27. MIM:614741 ORDO:447784 disease_ontology DOID:0080363 mitochondrial pyruvate carrier deficiency DOID:0080363 A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27. url:https://www.ncbi.nlm.nih.gov/pubmed/22628558 A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer. disease_ontology DOID:0080364 malignant adenoma DOID:0080364 A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer. url:https://pubmed.ncbi.nlm.nih.gov/18363065/ An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium. MESH:D004714 disease_ontology DOID:0080365 endometrial hyperplasia DOID:0080365 An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium. url:https://en.wikipedia.org/wiki/Endometrial_hyperplasia A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs. disease_ontology DOID:0080366 desmoid tumor DOID:0080366 A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs. url:https://ghr.nlm.nih.gov/condition/desmoid-tumor url:https://rarediseases.org/rare-diseases/desmoid-tumor/ url:https://www.ncbi.nlm.nih.gov/pubmed/28489620 A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. ICDO:9964/3 NCI:C4563 disease_ontology DOID:0080367 chronic eosinophilic leukemia DOID:0080367 A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. url:https://ghr.nlm.nih.gov/condition/pdgfra-associated-chronic-eosinophilic-leukemia url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/chronic-eosinophilic-leukemia A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts. disease_ontology DOID:0080368 sex cord-stromal benign neoplasm DOID:0080368 A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/sex-cord-stromal-tumor A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. NCI:C4862 disease_ontology DOID:0080369 ovarian sex-cord stromal tumor DOID:0080369 A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4862&ns=ncit A sex cord-stromal benign neoplasm that arises from the ovary. NCI:C6803 disease_ontology DOID:0080370 ovarian sex cord-stromal benign neoplasm DOID:0080370 A sex cord-stromal benign neoplasm that arises from the ovary. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498422/ A sex cord-stromal benign neoplasm that arises from the testis. disease_ontology DOID:0080371 testicular sex cord-stromal benign neoplasm DOID:0080371 A sex cord-stromal benign neoplasm that arises from the testis. url:http://www.pathologyoutlines.com/topic/testissexcordgeneral.html An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells. disease_ontology DOID:0080372 epithelioid inflammatory myofibroblastic sarcoma DOID:0080372 An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells. url:https://www.ncbi.nlm.nih.gov/pubmed/21164297 A male reproductive system disease that is located_in the epididymis. disease_ontology DOID:0080373 epididymis disease DOID:0080373 A male reproductive system disease that is located_in the epididymis. url:https://en.wikipedia.org/wiki/Epididymis A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach. disease_ontology DOID:0080374 gastroesophageal cancer DOID:0080374 A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042434 A gastroesophageal cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. gastric and esophageal adenocarcinoma gastro-esophageal adenocarcinoma disease_ontology DOID:0080375 gastroesophageal adenocarcinoma DOID:0080375 A gastroesophageal cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5827797 A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23. MIM:190351 ORDO:77258 trichorhinophalangeal syndrome type 3 disease_ontology DOID:0080376 trichorhinophalangeal syndrome type III DOID:0080376 A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23. url:https://rarediseases.info.nih.gov/diseases/7802/disease A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes. DOID:0080378 MIM:PS214100 disease_ontology DOID:0080377 peroxisomal biogenesis disorder DOID:0080377 A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes. url:https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder url:https://rarediseases.org/rare-diseases/zellweger-spectrum-disorders/ url:https://www.ncbi.nlm.nih.gov/pubmed/26627182 disease_ontology DOID:0080378 obsolete Zellweger spectrum disorder true DOID:0080378 A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31. MIM:600995 steroid-resistant autosomal recessive nephrotic syndrome disease_ontology DOID:0080379 nephrotic syndrome type 2 DOID:0080379 A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31. url:https://www.ncbi.nlm.nih.gov/pubmed/10742096 url:https://www.ncbi.nlm.nih.gov/pubmed/8606597 A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. MIM:614199 nephrotic syndrome type 5, with or without ocular abnormalities disease_ontology DOID:0080380 nephrotic syndrome type 5 DOID:0080380 A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. url:https://www.ncbi.nlm.nih.gov/pubmed/16912710 A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33. MIM:616893 disease_ontology DOID:0080381 nephrotic syndrome type 13 DOID:0080381 A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33. url:https://www.ncbi.nlm.nih.gov/pubmed/26878725 A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23. MIM:610725 early onset nephrotic syndrome type 3 disease_ontology DOID:0080382 nephrotic syndrome type 3 DOID:0080382 A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23. url:https://www.ncbi.nlm.nih.gov/pubmed/17086182 url:https://www.ncbi.nlm.nih.gov/pubmed/18065803 A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the WT1 gene on chromosome 11p13. MIM:256370 disease_ontology DOID:0080383 nephrotic syndrome type 4 DOID:0080383 A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the WT1 gene on chromosome 11p13. url:https://www.ncbi.nlm.nih.gov/pubmed/9529364 A familial nephrotic syndrome that has_material_basis_in homozygous mutation in the PTPRO gene on chromosome 12p12. MIM:614196 disease_ontology DOID:0080384 nephrotic syndrome type 6 DOID:0080384 A familial nephrotic syndrome that has_material_basis_in homozygous mutation in the PTPRO gene on chromosome 12p12. url:https://www.ncbi.nlm.nih.gov/pubmed/21722858 A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15. MIM:616730 disease_ontology DOID:0080385 nephrotic syndrome type 11 DOID:0080385 A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15. url:https://www.ncbi.nlm.nih.gov/pubmed/26411495 A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13. MIM:615861 disease_ontology DOID:0080386 nephrotic syndrome type 10 DOID:0080386 A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/24814193 A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13. MIM:616892 disease_ontology DOID:0080387 nephrotic syndrome type 12 DOID:0080387 A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13. url:https://www.ncbi.nlm.nih.gov/pubmed/26878725 A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22. MIM:615008 ORDO:329903 Ig-mediated MPGN Ig-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated MPGN immunoglobulin-mediated membranoproliferative glomerulonephritis nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis disease_ontology DOID:0080388 nephrotic syndrome type 7 DOID:0080388 A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22. url:https://www.ncbi.nlm.nih.gov/pubmed/23274426 A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25. MIM:615244 disease_ontology DOID:0080389 nephrotic syndrome type 8 DOID:0080389 A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25. url:https://www.ncbi.nlm.nih.gov/pubmed/23434736 url:https://www.ncbi.nlm.nih.gov/pubmed/23867502 A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13. GARD:1500 MEDDRA:10060740 MIM:256300 NCI:C122795 ORDO:839 SNOMEDCT_US_2023_03_01:197601003 UMLS_CUI:C0403399 Finnish congenital nephrosis disease_ontology DOID:0080390 nephrotic syndrome type 1 DOID:0080390 A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/10577936 url:https://www.ncbi.nlm.nih.gov/pubmed/9660941 A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13. MIM:615573 disease_ontology DOID:0080391 nephrotic syndrome type 9 DOID:0080391 A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/24270420 A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25. MIM:618176 disease_ontology DOID:0080392 nephrotic syndrome type 17 DOID:0080392 A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25. url:https://www.ncbi.nlm.nih.gov/pubmed/30179222 A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42. MIM:618177 disease_ontology DOID:0080393 nephrotic syndrome type 18 DOID:0080393 A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/30179222 A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the NUP160 gene on chromosome 11p11. MIM:618178 disease_ontology DOID:0080394 nephrotic syndrome type 19 DOID:0080394 A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the NUP160 gene on chromosome 11p11. url:https://www.ncbi.nlm.nih.gov/pubmed/30179222 An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3. MESH:C566121 MIM:119530 nonsyndromic cleft lip with or without cleft palate 1 disease_ontology DOID:0080395 orofacial cleft 1 DOID:0080395 An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/7711723 An orofacial cleft that has_material_basis_in variation in the chromosome region 2p13. MESH:C566419 MIM:602966 nonsyndromic cleft lip with or without cleft palate 2 disease_ontology DOID:0080396 orofacial cleft 2 DOID:0080396 An orofacial cleft that has_material_basis_in variation in the chromosome region 2p13. url:https://www.ncbi.nlm.nih.gov/pubmed/2570526 An orofacial cleft that has_material_basis_in variation in the chromosomal region 19q13. MESH:C563448 MIM:600757 nonsyndromic cleft lip with or without cleft palate 3 disease_ontology DOID:0080397 orofacial cleft 3 DOID:0080397 An orofacial cleft that has_material_basis_in variation in the chromosomal region 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/7668251 An orofacial cleft that has_material_basis_in variation in the 4q21-q31 chromosomal region. MESH:C564251 MIM:608371 nonsyndromic cleft lip with or without cleft palate 4 disease_ontology DOID:0080398 orofacial cleft 4 DOID:0080398 An orofacial cleft that has_material_basis_in variation in the 4q21-q31 chromosomal region. url:https://www.ncbi.nlm.nih.gov/pubmed/12087515 url:https://www.ncbi.nlm.nih.gov/pubmed/7820940 An orofacial cleft that has_material_basis_in mutation in the MSX1 gene on chromosome 4p16. MESH:C563843 MIM:608874 nonsyndromic cleft lip with or without cleft palate 5 disease_ontology DOID:0080399 orofacial cleft 5 DOID:0080399 An orofacial cleft that has_material_basis_in mutation in the MSX1 gene on chromosome 4p16. url:https://www.ncbi.nlm.nih.gov/pubmed/10742093 url:https://www.ncbi.nlm.nih.gov/pubmed/12807959 An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23. MESH:C563464 Zlotogora-Ogur syndrome disease_ontology DOID:0080400 orofacial cleft 7 MESH:C563464 DOID:0080400 An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/10932188 An orofacial cleft that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. MIM:618149 disease_ontology DOID:0080401 orofacial cleft 8 DOID:0080401 An orofacial cleft that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. url:https://www.ncbi.nlm.nih.gov/pubmed/29500247 An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34. MESH:C563675 MIM:610361 nonsyndromic cleft lip with or without cleft palate 9 disease_ontology DOID:0080402 orofacial cleft 9 DOID:0080402 An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34. url:https://www.ncbi.nlm.nih.gov/pubmed/16909398 An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33. MESH:C566605 MIM:613705 nonsyndromic cleft lip with or without cleft palate 10 disease_ontology DOID:0080403 orofacial cleft 10 DOID:0080403 An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33. url:https://www.ncbi.nlm.nih.gov/pubmed/16990542 An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22. MESH:C567410 MIM:600625 nonsyndromic cleft lip with or without cleft palate 11 disease_ontology DOID:0080404 orofacial cleft 11 DOID:0080404 An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22. url:https://www.ncbi.nlm.nih.gov/pubmed/19249007 An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3. MESH:C567548 MIM:612858 nonsyndromic cleft lip with or without cleft palate 12 disease_ontology DOID:0080405 orofacial cleft 12 DOID:0080405 An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19270707 An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730. MIM:613857 disease_ontology DOID:0080406 orofacial cleft 13 DOID:0080406 An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730. url:https://www.ncbi.nlm.nih.gov/pubmed/21295280 An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. MIM:615892 disease_ontology DOID:0080407 orofacial cleft 14 DOID:0080407 An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401942 An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21. MIM:616788 disease_ontology DOID:0080408 orofacial cleft 15 DOID:0080408 An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21. url:https://www.ncbi.nlm.nih.gov/pubmed/25954033 A familial adenomatous polyposis that is characterized by predisposition to cancer and that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. DOID:8269 ICDO:8220/3 MIM:175100 adenocarcinoma in adenomatous polyposis coli disease_ontology DOID:0080409 familial adenomatous polyposis 1 DOID:0080409 A familial adenomatous polyposis that is characterized by predisposition to cancer and that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. url:https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis url:https://www.ncbi.nlm.nih.gov/pubmed/1651563 A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34. ICD10CM:D12.6 MIM:608456 ORDO:247798 MUTYH-associated polyposis MUTYH-related attenuated FAP MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli disease_ontology DOID:0080410 familial adenomatous polyposis 2 DOID:0080410 A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34. url:https://www.ncbi.nlm.nih.gov/pubmed/12853198 A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13. MIM:616415 disease_ontology DOID:0080411 familial adenomatous polyposis 3 DOID:0080411 A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/25938944 A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11. MIM:617100 disease_ontology DOID:0080412 familial adenomatous polyposis 4 DOID:0080412 A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11. url:https://www.ncbi.nlm.nih.gov/pubmed/27476653 A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34. GARD:13676 MIM:615476 DEE18 early infantile epileptic encephalopathy 18 disease_ontology DOID:0080413 developmental and epileptic encephalopathy 18 DOID:0080413 A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34. url:https://www.ncbi.nlm.nih.gov/pubmed/23932106 DEE18 A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34. MIM:615006 DEE15 early infantile epileptic encephalopathy 15 disease_ontology DOID:0080414 developmental and epileptic encephalopathy 15 DOID:0080414 A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34. url:https://www.ncbi.nlm.nih.gov/pubmed/23252400 DEE15 A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. MIM:615859 ORDO:411986 DEE23 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome early infantile epileptic encephalopathy 23 disease_ontology DOID:0080415 developmental and epileptic encephalopathy 23 DOID:0080415 A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. url:https://www.ncbi.nlm.nih.gov/pubmed/24814191 DEE23 A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13. MIM:616366 DEE32 early infantile epileptic encephalopathy 32 disease_ontology DOID:0080416 developmental and epileptic encephalopathy 32 DOID:0080416 A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13. url:https://www.ncbi.nlm.nih.gov/pubmed/25751627 DEE32 A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42. MIM:617020 DEE38 early infantile epileptic encephalopathy 38 disease_ontology DOID:0080417 developmental and epileptic encephalopathy 38 DOID:0080417 A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42. url:https://pubmed.ncbi.nlm.nih.gov/32165008/ url:https://www.ncbi.nlm.nih.gov/pubmed/25558065 url:https://www.ncbi.nlm.nih.gov/pubmed/27270415 DEE38 A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44. MIM:617391 DEE54 early infantile epileptic encephalopathy 54 disease_ontology DOID:0080418 developmental and epileptic encephalopathy 54 DOID:0080418 A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44. url:https://www.ncbi.nlm.nih.gov/pubmed/27652284 DEE54 A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23. GARD:13621 MIM:616457 ORDO:448010 CDG syndrome type Iz CDG-Iz Carbohydrate deficient glycoprotein syndrome type Iz Congenital disorder of glycosylation type 1z DEE50 early infantile epileptic encephalopathy 50 disease_ontology DOID:0080419 developmental and epileptic encephalopathy 50 DOID:0080419 A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23. url:https://www.ncbi.nlm.nih.gov/pubmed/28007989 CDG-Iz DEE50 A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. MIM:617938 DEE62 early infantile epileptic encephalopathy 62 disease_ontology DOID:0080420 developmental and epileptic encephalopathy 62 DOID:0080420 A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. url:https://www.ncbi.nlm.nih.gov/pubmed/29466837 DEE62 A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24. MIM:613721 DEE11 early infantile epileptic encephalopathy 11 disease_ontology DOID:0080421 developmental and epileptic encephalopathy 11 DOID:0080421 A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24. url:https://www.ncbi.nlm.nih.gov/pubmed/19786696 DEE11 A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. DOID:0060171 GARD:10430 MIM:607208 ORDO:33069 DEE6 DEE6A developmental and epileptic encephalopathy 6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 severe myoclonic epilepsy of infancy disease_ontology DOID:0080422 Dravet syndrome DOID:0080422 A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. url:https://pubmed.ncbi.nlm.nih.gov/27544470/ url:https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/11359211 DEE6 DEE6A disease_ontology DOID:0080423 obsolete early infantile epileptic encephalopathy 39 true DOID:0080423 A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22. MIM:617132 DEE44 early infantile epileptic encephalopathy 44 disease_ontology DOID:0080424 developmental and epileptic encephalopathy 44 DOID:0080424 A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22. url:https://pubmed.ncbi.nlm.nih.gov/27545681/ url:https://www.ncbi.nlm.nih.gov/pubmed/27545674 DEE44 A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28. MIM:617166 DEE47 early infantile epileptic encephalopathy 47 disease_ontology DOID:0080425 developmental and epileptic encephalopathy 47 DOID:0080425 A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28. url:https://pubmed.ncbi.nlm.nih.gov/27872899/ url:https://www.ncbi.nlm.nih.gov/pubmed/27164707 DEE47 A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16. MIM:617976 DEE63 early infantile epileptic encephalopathy 63 disease_ontology DOID:0080426 developmental and epileptic encephalopathy 63 DOID:0080426 A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16. url:https://pubmed.ncbi.nlm.nih.gov/28422131/ url:https://www.ncbi.nlm.nih.gov/pubmed/26539891 DEE63 A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12. MIM:617065 DEE40 early infantile epileptic encephalopathy 40 disease_ontology DOID:0080427 developmental and epileptic encephalopathy 40 DOID:0080427 A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12. url:https://www.ncbi.nlm.nih.gov/pubmed/26486472 DEE40 A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. MIM:617153 DEE45 early infantile epileptic encephalopathy 45 disease_ontology DOID:0080428 developmental and epileptic encephalopathy 45 DOID:0080428 A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. url:https://pubmed.ncbi.nlm.nih.gov/31618474/ url:https://www.ncbi.nlm.nih.gov/pubmed/23934111 DEE45 A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12. MIM:615871 DEE24 early infantile epileptic encephalopathy 24 disease_ontology DOID:0080429 developmental and epileptic encephalopathy 24 DOID:0080429 A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12. url:https://pubmed.ncbi.nlm.nih.gov/30351409/ url:https://www.ncbi.nlm.nih.gov/pubmed/24747641 DEE24 A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33. MIM:618008 DEE65 early infantile epileptic encephalopathy 65 disease_ontology DOID:0080430 developmental and epileptic encephalopathy 65 DOID:0080430 A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33. url:https://www.ncbi.nlm.nih.gov/pubmed/29534297 DEE65 A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34. MIM:615744 DEE19 early infantile epileptic encephalopathy 19 disease_ontology DOID:0080431 developmental and epileptic encephalopathy 19 DOID:0080431 A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34. url:https://www.ncbi.nlm.nih.gov/pubmed/24623842 DEE19 A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p. MIM:617929 DEE60 early infantile epileptic encephalopathy 60 disease_ontology DOID:0080432 developmental and epileptic encephalopathy 60 DOID:0080432 A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p. url:https://www.ncbi.nlm.nih.gov/pubmed/29394991 DEE60 A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11. MIM:617339 DEE51 early infantile epileptic encephalopathy 51 disease_ontology DOID:0080433 developmental and epileptic encephalopathy 51 DOID:0080433 A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11. url:https://www.ncbi.nlm.nih.gov/pubmed/27989324 DEE51 A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21. MIM:617933 DEE61 early infantile epileptic encephalopathy 61 disease_ontology DOID:0080434 developmental and epileptic encephalopathy 61 DOID:0080434 A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21. url:https://www.ncbi.nlm.nih.gov/pubmed/27066583 DEE61 A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31. MIM:616981 DEE37 early infantile epileptic encephalopathy 37 disease_ontology DOID:0080435 developmental and epileptic encephalopathy 37 DOID:0080435 A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31. url:https://www.ncbi.nlm.nih.gov/pubmed/27236917 DEE37 A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1. MIM:612164 DEE4 early infantile epileptic encephalopathy 4 disease_ontology DOID:0080436 developmental and epileptic encephalopathy 4 DOID:0080436 A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1. url:https://pubmed.ncbi.nlm.nih.gov/19557857/ url:https://www.ncbi.nlm.nih.gov/pubmed/18469812 DEE4 A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34. MIM:616346 DEE31 DEE31A developmental and epileptic encephalopathy 31 early infantile epileptic encephalopathy 31 disease_ontology DOID:0080437 developmental and epileptic encephalopathy 31A DOID:0080437 A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/25533962/ url:https://www.ncbi.nlm.nih.gov/pubmed/25262651 DEE31 DEE31A A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. MIM:613477 DEE5 early infantile epileptic encephalopathy 5 disease_ontology DOID:0080438 developmental and epileptic encephalopathy 5 DOID:0080438 A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/20493457 DEE5 A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. MIM:614959 DEE14 early infantile epileptic encephalopathy 14 disease_ontology DOID:0080439 developmental and epileptic encephalopathy 14 DOID:0080439 A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/23086397 DEE14 A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15. MIM:609304 early infantile epileptic encephalopathy 3 disease_ontology DOID:0080440 developmental and epileptic encephalopathy 3 DOID:0080440 A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/15592994 A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15. MIM:617281 DEE49 early infantile epileptic encephalopathy 49 disease_ontology DOID:0080441 developmental and epileptic encephalopathy 49 DOID:0080441 A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/27866705 DEE49 A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13. MIM:617105 DEE41 early infantile epileptic encephalopathy 41 disease_ontology DOID:0080442 developmental and epileptic encephalopathy 41 DOID:0080442 A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13. url:https://www.ncbi.nlm.nih.gov/pubmed/27476654 DEE41 A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13. MIM:615833 DEE21 early infantile epileptic encephalopathy 21 disease_ontology DOID:0080443 developmental and epileptic encephalopathy 21 DOID:0080443 A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13. url:https://pubmed.ncbi.nlm.nih.gov/30525121/ url:https://www.ncbi.nlm.nih.gov/pubmed/24399846 DEE21 A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12. MIM:616139 DEE27 early infantile epileptic encephalopathy 27 disease_ontology DOID:0080444 developmental and epileptic encephalopathy 27 DOID:0080444 A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12. url:https://www.ncbi.nlm.nih.gov/pubmed/24272827 url:https://www.ncbi.nlm.nih.gov/pubmed/28377535 DEE27 A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13. MIM:614558 DEE13 early infantile epileptic encephalopathy 13 disease_ontology DOID:0080445 developmental and epileptic encephalopathy 13 DOID:0080445 A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/24888894/ url:https://www.ncbi.nlm.nih.gov/pubmed/22365152 DEE13 A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32. MIM:618067 DEE66 early infantile epileptic encephalopathy 66 disease_ontology DOID:0080446 developmental and epileptic encephalopathy 66 DOID:0080446 A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/29656858 DEE66 A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11. MIM:617113 DEE43 early infantile epileptic encephalopathy 43 disease_ontology DOID:0080447 developmental and epileptic encephalopathy 43 DOID:0080447 A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11. url:https://pubmed.ncbi.nlm.nih.gov/27476654/ url:https://www.ncbi.nlm.nih.gov/pubmed/23934111 DEE43 A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25. MIM:617276 DEE48 early infantile epileptic encephalopathy 48 disease_ontology DOID:0080448 developmental and epileptic encephalopathy 48 DOID:0080448 A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25. url:https://www.ncbi.nlm.nih.gov/pubmed/27889060 DEE48 A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13. MIM:615338 ORDO:352596 DEE16 early infantile epileptic encephalopathy 16 disease_ontology DOID:0080449 developmental and epileptic encephalopathy 16 DOID:0080449 A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/21087195 url:https://www.ncbi.nlm.nih.gov/pubmed/23526554 DEE16 A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13. MIM:615473 DEE17 early infantile epileptic encephalopathy 17 disease_ontology DOID:0080450 developmental and epileptic encephalopathy 17 DOID:0080450 A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13. url:https://www.ncbi.nlm.nih.gov/pubmed/23993195 DEE17 A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22. MIM:616339 DEE29 early infantile epileptic encephalopathy 29 disease_ontology DOID:0080451 developmental and epileptic encephalopathy 29 DOID:0080451 A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22. url:https://www.ncbi.nlm.nih.gov/pubmed/25817015 DEE29 A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23. MIM:616211 DEE28 early infantile epileptic encephalopathy 28 disease_ontology DOID:0080452 developmental and epileptic encephalopathy 28 DOID:0080452 A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23. url:https://pubmed.ncbi.nlm.nih.gov/25411445/ url:https://www.ncbi.nlm.nih.gov/pubmed/24456803 DEE28 A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. GARD:12901 MIM:615905 DEE25 developmental and epileptic encephalopathy 25, with amelogenesis imperfecta early infantile epileptic encephalopathy 25 disease_ontology DOID:0080453 developmental and epileptic encephalopathy 25 DOID:0080453 A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. url:https://pubmed.ncbi.nlm.nih.gov/27600704/ url:https://www.ncbi.nlm.nih.gov/pubmed/24995870 DEE25 A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13. MIM:617106 DEE42 early infantile epileptic encephalopathy 42 disease_ontology DOID:0080454 developmental and epileptic encephalopathy 42 DOID:0080454 A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/27476654 DEE42 A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13. MIM:617350 DEE52 early infantile epileptic encephalopathy 52 disease_ontology DOID:0080455 developmental and epileptic encephalopathy 52 DOID:0080455 A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/19710327 DEE52 A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13. MIM:617162 DEE46 early infantile epileptic encephalopathy 46 disease_ontology DOID:0080456 developmental and epileptic encephalopathy 46 DOID:0080456 A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/30280376/ url:https://www.ncbi.nlm.nih.gov/pubmed/27616483 DEE46 A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. MIM:613402 developmental and epileptic encephalopathy 10 early infantile epileptic encephalopathy 10 disease_ontology DOID:0080457 microcephaly, seizures, and developmental delay DOID:0080457 A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/20118933 url:https://www.ncbi.nlm.nih.gov/pubmed/23224214 A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13. MIM:616647 ORDO:457375 DEE35 ITPA-related encephalopathy early infantile epileptic encephalopathy 35 disease_ontology DOID:0080458 developmental and epileptic encephalopathy 35 DOID:0080458 A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13. url:https://www.ncbi.nlm.nih.gov/pubmed/26224535 DEE35 A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3. MIM:613722 DEE12 early infantile epileptic encephalopathy 12 disease_ontology DOID:0080459 developmental and epileptic encephalopathy 12 DOID:0080459 A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3. url:https://pubmed.ncbi.nlm.nih.gov/22690784/ url:https://www.ncbi.nlm.nih.gov/pubmed/20833646 DEE12 A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12. MIM:616645 DEE34 early infantile epileptic encephalopathy 34 disease_ontology DOID:0080460 developmental and epileptic encephalopathy 34 DOID:0080460 A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12. url:https://www.ncbi.nlm.nih.gov/pubmed/26333769 DEE34 A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13. GARD:12391 MIM:616056 DEE26 early infantile epileptic encephalopathy 26 disease_ontology DOID:0080461 developmental and epileptic encephalopathy 26 DOID:0080461 A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/25164438 DEE26 A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13. MIM:613720 ORDO:439218 KCNQ2-related epileptic encephalopathy KCNQ2-related neonatal epileptic encephalopathy early infantile epileptic encephalopathy 7 disease_ontology DOID:0080462 developmental and epileptic encephalopathy 7 DOID:0080462 A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/15249611 A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13. MIM:616409 DEE33 early infantile epileptic encephalopathy 33 disease_ontology DOID:0080463 developmental and epileptic encephalopathy 33 DOID:0080463 A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/23033978 DEE33 A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22. MIM:617389 DEE53 early infantile epileptic encephalopathy 53 disease_ontology DOID:0080464 developmental and epileptic encephalopathy 53 DOID:0080464 A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22. url:https://www.ncbi.nlm.nih.gov/pubmed/27435091 DEE53 A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22. MIM:616341 DEE30 early infantile epileptic encephalopathy 30 disease_ontology DOID:0080465 developmental and epileptic encephalopathy 30 DOID:0080465 A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22. url:https://www.ncbi.nlm.nih.gov/pubmed/25839329 DEE30 disease_ontology DOID:0080466 obsolete multiple congenital anomalies-hypotonia-seizures syndrome 2 true DOID:0080466 A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. MIM:300672 DEE2 EIEE2 X-linked infantile spasm syndrome 2 early infantile epileptic encephalopathy 2 disease_ontology DOID:0080467 developmental and epileptic encephalopathy 2 DOID:0080467 A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. url:https://www.ncbi.nlm.nih.gov/pubmed/15492925 url:https://www.ncbi.nlm.nih.gov/pubmed/22872100 DEE2 EIEE2 A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21. MIM:308350 DEE1 X-linked infantile spasm syndrome 1 early infantile epileptic encephalopathy 1 disease_ontology DOID:0080468 developmental and epileptic encephalopathy 1 DOID:0080468 A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21. url:https://pubmed.ncbi.nlm.nih.gov/17668384/ url:https://www.ncbi.nlm.nih.gov/pubmed/11889467 DEE1 disease_ontology DOID:0080469 obsolete congenital disorder of glycosylation type 2m true DOID:0080469 A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23. GARD:12401 MIM:300884 ORDO:324422 congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36 disease_ontology DOID:0080470 developmental and epileptic encephalopathy 36 DOID:0080470 A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23. url:https://www.ncbi.nlm.nih.gov/pubmed/23033978 url:https://www.ncbi.nlm.nih.gov/pubmed/26138355 A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34. MIM:617829 disease_ontology DOID:0080471 developmental and epileptic encephalopathy 92 DOID:0080471 A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34. url:https://www.ncbi.nlm.nih.gov/pubmed/25124326 url:https://www.ncbi.nlm.nih.gov/pubmed/29100083 A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24. MIM:617711 infantile or early childhood epileptic encephalopathy 1 disease_ontology DOID:0080472 developmental and epileptic encephalopathy 91 DOID:0080472 A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24. url:https://www.ncbi.nlm.nih.gov/pubmed/28942967 A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36. MIM:617836 disease_ontology DOID:0080473 developmental delay and seizures with or without movement abnormalities DOID:0080473 A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/29100083 A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14. ICD10CM:L40.1 MIM:614204 ORDO:404546 acrodermatitis continua of Hallopeau deficiency of IL-36R antagonist disease_ontology DOID:0080474 pustular psoriasis 14 DOID:0080474 A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14. url:https://www.ncbi.nlm.nih.gov/pubmed/21848462 A psoriasis that has_material_basis_in heterozygous mutation in the CARD14 gene on chromosome 17q25. MIM:602723 disease_ontology DOID:0080475 psoriasis 2 DOID:0080475 A psoriasis that has_material_basis_in heterozygous mutation in the CARD14 gene on chromosome 17q25. url:https://www.ncbi.nlm.nih.gov/pubmed/22521418 A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. MIM:214100 peroxisome biogenesis disorder 1A (Zellweger) disease_ontology DOID:0080476 peroxisome biogenesis disorder 1A DOID:0080476 A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. url:https://www.ncbi.nlm.nih.gov/pubmed/17055079 A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13. MIM:214110 peroxisome biogenesis disorder 2A (Zellweger) disease_ontology DOID:0080477 peroxisome biogenesis disorder 2A DOID:0080477 A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/17055079 A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. MIM:614859 peroxisome biogenesis disorder 3A (Zellweger) disease_ontology DOID:0080478 peroxisome biogenesis disorder 3A DOID:0080478 A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. url:https://www.ncbi.nlm.nih.gov/pubmed/17055079 A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1. MIM:614862 peroxisome biogenesis disorder 4A (Zellweger) disease_ontology DOID:0080479 peroxisome biogenesis disorder 4A DOID:0080479 A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17055079 A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21. MIM:614866 peroxisome biogenesis disorder 5A (Zellweger) disease_ontology DOID:0080480 peroxisome biogenesis disorder 5A DOID:0080480 A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21. url:https://www.ncbi.nlm.nih.gov/pubmed/17055079 A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36. MIM:614870 peroxisome biogenesis disorder 6A (Zellweger) disease_ontology DOID:0080481 peroxisome biogenesis disorder 6A DOID:0080481 A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/17055079 A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11. MIM:614872 peroxisome biogenesis disorder 7A (Zellweger) disease_ontology DOID:0080482 peroxisome biogenesis disorder 7A DOID:0080482 A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11. url:https://www.ncbi.nlm.nih.gov/pubmed/17055079 A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. MIM:614876 peroxisome biogenesis disorder 8A (Zellweger) disease_ontology DOID:0080483 peroxisome biogenesis disorder 8A DOID:0080483 A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. url:https://www.ncbi.nlm.nih.gov/pubmed/17055079 A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24. MIM:614882 peroxisome biogenesis disorder 10A (Zellweger) disease_ontology DOID:0080484 peroxisome biogenesis disorder 10A DOID:0080484 A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24. url:https://www.ncbi.nlm.nih.gov/pubmed/17055079 A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15. MIM:614883 peroxisome biogenesis disorder 11A (Zellweger) disease_ontology DOID:0080485 peroxisome biogenesis disorder 11A DOID:0080485 A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15. url:https://www.ncbi.nlm.nih.gov/pubmed/17055079 A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23. MIM:614886 peroxisome biogenesis disorder 12A (Zellweger) disease_ontology DOID:0080486 peroxisome biogenesis disorder 12A DOID:0080486 A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23. url:https://www.ncbi.nlm.nih.gov/pubmed/17055079 A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36. MIM:614887 peroxisome biogenesis disorder 13A (Zellweger) disease_ontology DOID:0080487 peroxisome biogenesis disorder 13A DOID:0080487 A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/17055079 A lipid storage disease that is characterized by increased storage of carbohydrates and lipids. MIM:PS256550 disease_ontology DOID:0080488 mucolipidosis DOID:0080488 A lipid storage disease that is characterized by increased storage of carbohydrates and lipids. url:https://en.wikipedia.org/wiki/Mucolipidosis A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years. GARD:2431 MIM:230650 ORDO:79257 adult-onset GM1 gangliosidosis disease_ontology DOID:0080489 GM1 gangliosidosis type 3 DOID:0080489 A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years. url:https://www.ncbi.nlm.nih.gov/pubmed/404231 A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time. GARD:94 MIM:252650 ORDO:578 disease_ontology DOID:0080490 mucolipidosis type IV DOID:0080490 A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time. url:https://en.wikipedia.org/wiki/Mucolipidosis_type_IV url:https://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21. MIM:116860 disease_ontology DOID:0080491 cerebral cavernous malformation 1 DOID:0080491 A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21. url:https://www.omim.org/entry/116860?search=116860&highlight=116860 A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit. ORDO:99843 disease_ontology DOID:0080492 leukocyte adhesion deficiency 2 DOID:0080492 A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit. url:https://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/ url:https://www.ncbi.nlm.nih.gov/books/NBK539770/ A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16. MIM:233300 disease_ontology DOID:0080493 ovarian dysgenesis 1 DOID:0080493 A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16. url:https://www.omim.org/entry/233300 A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11. MESH:C564499 MIM:300510 disease_ontology DOID:0080494 ovarian dysgenesis 2 DOID:0080494 A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11. url:https://www.omim.org/entry/300510 A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21. MIM:614324 disease_ontology DOID:0080495 ovarian dysgenesis 3 DOID:0080495 A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21. url:https://www.omim.org/entry/614324 A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22. MIM:616185 disease_ontology DOID:0080496 ovarian dysgenesis 4 DOID:0080496 A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22. url:https://www.omim.org/entry/616185 A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34. MIM:617690 disease_ontology DOID:0080497 ovarian dysgenesis 5 DOID:0080497 A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34. url:https://www.omim.org/entry/617690 A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15. MIM:618078 disease_ontology DOID:0080498 ovarian dysgenesis 6 DOID:0080498 A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15. url:https://www.omim.org/entry/618078 A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23. MIM:618117 disease_ontology DOID:0080499 ovarian dysgenesis 7 DOID:0080499 A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23. url:https://www.omim.org/entry/618117 A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23. MIM:618187 disease_ontology DOID:0080500 ovarian dysgenesis 8 DOID:0080500 A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23. url:https://www.omim.org/entry/618187 A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. MIM:230600 juvenile GM1 gangliosidosis disease_ontology DOID:0080501 GM1 gangliosidosis type 2 DOID:0080501 A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. url:https://www.ncbi.nlm.nih.gov/pubmed/12644936 A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. GARD:6479 MIM:230500 ORDO:79255 disease_ontology DOID:0080502 GM1 gangliosidosis type 1 DOID:0080502 A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. url:https://www.ncbi.nlm.nih.gov/books/NBK164500/ A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies. GARD:12781 MIM:PS614080 ORDO:280633 disease_ontology DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome DOID:0080503 A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies. url:https://www.ncbi.nlm.nih.gov/pubmed/29974678 A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2. MIM:616710 autosomal dominant Parkinson's disease 22 disease_ontology DOID:0080504 Parkinson's disease 22 DOID:0080504 A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/30496485 url:https://www.omim.org/entry/616710 A Cornelia de Lange syndrome characterized by facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, impaired intellectual development, and, in many cases, upper limb anomalies that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. MIM:122470 disease_ontology DOID:0080505 Cornelia de Lange syndrome 1 DOID:0080505 A Cornelia de Lange syndrome characterized by facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, impaired intellectual development, and, in many cases, upper limb anomalies that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. url:https://www.ncbi.nlm.nih.gov/pubmed/20583156 A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11. MIM:300590 disease_ontology DOID:0080506 Cornelia de Lange syndrome 2 DOID:0080506 A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/22106055 A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2. MIM:610759 CDLS3 Cornelia De Lange syndrome 3 with or without midline brain defects disease_ontology DOID:0080507 Cornelia de Lange syndrome 3 DOID:0080507 A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2. url:https://www.ncbi.nlm.nih.gov/pubmed/25655089 CDLS3 A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24. MIM:614701 CDLS4 Cornelia De Lange syndrome 4 with or without midline brain defects disease_ontology DOID:0080508 Cornelia de Lange syndrome 4 DOID:0080508 A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24. url:https://www.ncbi.nlm.nih.gov/pubmed/22633399 CDLS4 A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13. MIM:300882 disease_ontology DOID:0080509 Cornelia de Lange syndrome 5 DOID:0080509 A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13. url:https://www.ncbi.nlm.nih.gov/pubmed/22889856 An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet. MIM:131800 epidermolysis bullosa simplex Weber-Cockayne type disease_ontology DOID:0080510 epidermolysis bullosa simplex localized type DOID:0080510 An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet. url:https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#resources An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy. MIM:131900 epidermolysis bullosa simplex Koebner type disease_ontology DOID:0080511 epidermolysis bullosa simplex generalized type DOID:0080511 An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy. url:https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#resources A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32. MIM:224690 disease_ontology DOID:0080512 Meier-Gorlin syndrome 1 DOID:0080512 A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32. url:https://www.omim.org/entry/224690 A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23. MIM:613800 disease_ontology DOID:0080513 Meier-Gorlin syndrome 2 DOID:0080513 A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23. url:https://www.omim.org/entry/613800 A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11. MIM:613803 disease_ontology DOID:0080514 Meier-Gorlin syndrome 3 DOID:0080514 A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11. url:https://pubmed.ncbi.nlm.nih.gov/37059840/ A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24. MIM:613804 disease_ontology DOID:0080515 Meier-Gorlin syndrome 4 DOID:0080515 A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24. url:https://pubmed.ncbi.nlm.nih.gov/21358631/ A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC6 gene on chromosome 17q21. MIM:613805 disease_ontology DOID:0080516 Meier-Gorlin syndrome 5 DOID:0080516 A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC6 gene on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/11477602/ A Meier-Gorlin syndrome that has_material_basis_in heterozygous mutation in the GMNN gene on chromosome 6p22. MIM:616835 disease_ontology DOID:0080517 Meier-Gorlin syndrome 6 DOID:0080517 A Meier-Gorlin syndrome that has_material_basis_in heterozygous mutation in the GMNN gene on chromosome 6p22. url:https://pubmed.ncbi.nlm.nih.gov/26637980/ A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11. MIM:617063 disease_ontology DOID:0080518 Meier-Gorlin syndrome 7 DOID:0080518 A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11. url:https://pubmed.ncbi.nlm.nih.gov/27374770/ A syndrome that is characterized by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24. MIM:604416 ORDO:69126 pyogenic arthritis, pyoderma gangrenosum and acne disease_ontology DOID:0080519 PAPA syndrome DOID:0080519 A syndrome that is characterized by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24. url:https://en.wikipedia.org/wiki/PAPA_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/28236224 url:https://www.ncbi.nlm.nih.gov/pubmed/28251506 url:https://www.nomidalliance.org/papa.php A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24. MIM:300622 galactosyltransferase deficiency disease_ontology DOID:0080520 Tn polyagglutination syndrome DOID:0080520 A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24. url:https://www.ncbi.nlm.nih.gov/pubmed/16251947 A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation. NCI:C135017 non- squamous NSCLC disease_ontology DOID:0080521 lung non-squamous non-small cell carcinoma DOID:0080521 A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation. url:https://www.ncbi.nlm.nih.gov/pubmed/30362335 A thyroid gland carcinoma that is composed of undifferentiated cells. NCI:C3878 thyroid gland anaplastic carcinoma disease_ontology DOID:0080522 anaplastic thyroid carcinoma DOID:0080522 A thyroid gland carcinoma that is composed of undifferentiated cells. url:https://www.ncbi.nlm.nih.gov/pubmed/28707679 A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32. GARD:10981 MIM:221820 ORDO:313808 hereditary diffuse leukoencephalopathy with spheroids disease_ontology DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia DOID:0080523 A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32. url:https://www.ncbi.nlm.nih.gov/pubmed/27680516 url:https://www.ncbi.nlm.nih.gov/pubmed/28921817 A thyroid gland carcinoma that derives_from epithelial cells of glandular origin. NCI:C27380 disease_ontology DOID:0080524 thyroid gland adenocarcinoma DOID:0080524 A thyroid gland carcinoma that derives_from epithelial cells of glandular origin. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27380 A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation. NCI:C7153 differentiated thyroid gland carcinoma disease_ontology DOID:0080525 differentiated high-grade thyroid carcinoma DOID:0080525 A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7153&ns=ncit A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12. MIM:211400 disease_ontology DOID:0080526 bronchiectasis 1 DOID:0080526 A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12. url:https://www.omim.org/entry/211400 A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel. MIM:613021 disease_ontology DOID:0080527 bronchiectasis 2 DOID:0080527 A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel. url:https://pubmed.ncbi.nlm.nih.gov/19462466/ A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel. MIM:613071 disease_ontology DOID:0080528 bronchiectasis 3 DOID:0080528 A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel. url:https://pubmed.ncbi.nlm.nih.gov/18507830/ A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface. MIM:121900 corneal dystrophy, Groenouw type I disease_ontology DOID:0080530 granular corneal dystrophy 1 DOID:0080530 A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface. url:https://pubmed.ncbi.nlm.nih.gov/8136834/ A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells. ICDO:8858/3 NCI:C3704 ORDO:99970 disease_ontology DOID:0080531 dedifferentiated liposarcoma DOID:0080531 A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211889/ url:https://www.ncbi.nlm.nih.gov/pubmed/26645460 A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex). ORDO:466962 SMARCA4-DTS disease_ontology DOID:0080532 Smarca4-deficient sarcoma of thorax DOID:0080532 A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex). url:https://ghr.nlm.nih.gov/gene/SMARCA4#conditions url:https://www.nature.com/articles/modpathol201761.pdf?origin=ppub url:https://www.ncbi.nlm.nih.gov/pubmed/26343384 SMARCA4-DTS A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors. GARD:10643 MESH:C564650 MIM:606864 ORDO:97286 disease_ontology DOID:0080533 Carney-Stratakis syndrome DOID:0080533 A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors. url:https://rarediseases.info.nih.gov/diseases/10643/index url:https://www.ncbi.nlm.nih.gov/pubmed/31174229 A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. ICDO:8811/3 NCI:C6496 ORDO:79105 fibromyxoid sarcoma disease_ontology DOID:0080534 myxofibrosarcoma DOID:0080534 A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. url:https://www.mayoclinic.org/diseases-conditions/myxofibrosarcoma/cdc-20387740 url:https://www.ncbi.nlm.nih.gov/pubmed/27591498 A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese. MIM:PS613280 disease_ontology DOID:0080535 hypermanganesemia with dystonia DOID:0080535 A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese. url:https://ghr.nlm.nih.gov/condition/hypermanganesemia-with-dystonia#resources A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41. MIM:613280 disease_ontology DOID:0080536 hypermanganesemia with dystonia 1 DOID:0080536 A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41. url:https://www.ncbi.nlm.nih.gov/pubmed/22341972 A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21. MIM:617013 disease_ontology DOID:0080537 hypermanganesemia with dystonia 2 DOID:0080537 A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21. url:https://www.ncbi.nlm.nih.gov/pubmed/27231142 A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. MIM:617746 disease_ontology DOID:0080538 Sweeney-Cox syndrome DOID:0080538 A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. url:https://www.ncbi.nlm.nih.gov/pubmed/28369379 A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. GARD:4264 MESH:C536317 MIM:260565 ORDO:2836 disease_ontology DOID:0080539 PEHO syndrome DOID:0080539 A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. url:https://en.wikipedia.org/wiki/PEHO_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/28335020 url:https://www.ncbi.nlm.nih.gov/pubmed/30385166 url:https://www.ncbi.nlm.nih.gov/pubmed/31048081 A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13. GARD:3953 MIM:256540 disease_ontology DOID:0080540 galactosialidosis DOID:0080540 A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13. url:https://ghr.nlm.nih.gov/condition/galactosialidosis url:https://www.ncbi.nlm.nih.gov/pubmed/28603679 An amno acid metabolic disorder that is characterized by the excess of proline in the blood. GARD:2847 disease_ontology DOID:0080541 hyperprolinemia DOID:0080541 An amno acid metabolic disorder that is characterized by the excess of proline in the blood. url:https://en.wikipedia.org/wiki/Hyperprolinemia url:https://ghr.nlm.nih.gov/condition/hyperprolinemia A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. MIM:239500 ORDO:419 hyperprolinemia type I disease_ontology DOID:0080542 hyperprolinemia type 1 DOID:0080542 A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. url:https://ghr.nlm.nih.gov/condition/hyperprolinemia A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36. MESH:C538385 MIM:239510 ORDO:79101 hyperprolinemia type II disease_ontology DOID:0080543 hyperprolinemia type 2 DOID:0080543 A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36. url:https://ghr.nlm.nih.gov/condition/hyperprolinemia A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM. ICD10CM:D80.5 MESH:D053306 MIM:PS308230 NCI:C3990 UMLS_CUI:C0272236 HIGM hyperimmunoglobulin M syndrome immunodeficiency with hyper-IgM disease_ontology DOID:0080544 hyper IgM syndrome ICD10CM:D80.5 MESH:D053306 MIM:PS308230 NCI:C3990 UMLS_CUI:C0272236 DOID:0080544 A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM. url:https://rarediseases.org/rare-diseases/hyper-igm-syndrome/ url:https://www.niaid.nih.gov/diseases-conditions/types-pidds HIGM A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs. GARD:10956 MIM:PS147060 hyper immunoglobulin E syndrome disease_ontology DOID:0080545 hyper IgE syndrome DOID:0080545 A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs. url:https://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome#synonyms A metabolic dysfunction-associated steatotic liver disease characterized by the absence of inflammation and hepatocyte injury in the form of hepatocyte ballooning. NAFL nonalcoholic fatty liver disease_ontology DOID:0080546 NAFL was not addressed in the 2023 international update that revised the nomenclature and definition of NAFLD/MASLD and NASH/MASH. It has historically been considered a subtype of NAFLD/MASLD, but has frequently been used in clinical literature as a synonym for NAFLD itself. Use of NAFL in clinical literature has declined in connection with the decline of NAFLD. It no longer appears to represent a distinct disease entity (2024-11-22, JAB). obsolete non-alcoholic fatty liver true DOID:0080546 A metabolic dysfunction-associated steatotic liver disease characterized by the absence of inflammation and hepatocyte injury in the form of hepatocyte ballooning. url:https://en.wikipedia.org/wiki/Non-alcoholic_fatty_liver_disease url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881593/ NAFL A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis. MASH NASH non-alcoholic steatohepatitis nonalcoholic steatohepatitis disease_ontology DOID:0080547 metabolic dysfunction-associated steatohepatitis DOID:0080547 A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis. url:https://en.wikipedia.org/wiki/Non-alcoholic_fatty_liver_disease url:https://pubmed.ncbi.nlm.nih.gov/37364816/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881593/ url:https://www.niddk.nih.gov/health-information/liver-disease/nafld-nash MASH NASH A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24. MIM:151100 LEOPARD syndrome 1 disease_ontology DOID:0080548 Noonan syndrome with multiple lentigines 1 DOID:0080548 A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24. url:https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#genes A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25. MESH:C537117 MIM:611554 LEOPARD syndrome 2 disease_ontology DOID:0080549 Noonan syndrome with multiple lentigines 2 DOID:0080549 A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25. url:https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance url:https://www.ncbi.nlm.nih.gov/pubmed/17603483 A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. MIM:613707 LEOPARD syndrome 3 disease_ontology DOID:0080550 Noonan syndrome with multiple lentigines 3 DOID:0080550 A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. url:https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21. GARD:9795 MESH:C538346 MIM:601214 ORDO:34217 disease_ontology DOID:0080551 Naxos disease DOID:0080551 A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21. url:https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair#genes url:https://rarediseases.info.nih.gov/diseases/9795/disease url:https://www.ncbi.nlm.nih.gov/pubmed/29747658 A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13. GARD:9826 MIM:212065 ORDO:79318 PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a disease_ontology DOID:0080552 congenital disorder of glycosylation Ia DOID:0080552 A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13. url:https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22. MIM:617082 congenital disorder of glycosylation 1aa disease_ontology DOID:0080553 congenital disorder of glycosylation Iaa DOID:0080553 A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22. url:https://www.ncbi.nlm.nih.gov/pubmed/25066056 A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24. GARD:9830 MIM:602579 ORDO:79319 congenital disorder of glycosylation 1b disease_ontology DOID:0080554 congenital disorder of glycosylation Ib DOID:0080554 A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24. url:https://www.omim.org/entry/602579 A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31. GARD:9829 MIM:603147 ORDO:79320 congenital disorder of glycosylation 1c disease_ontology DOID:0080555 congenital disorder of glycosylation Ic DOID:0080555 A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31. url:https://ghr.nlm.nih.gov/condition/alg6-congenital-disorder-of-glycosylation url:https://www.ncbi.nlm.nih.gov/pubmed/16007612 A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27. GARD:9827 MIM:601110 ORDO:79321 congenital disorder of glycosylation 1d disease_ontology DOID:0080556 congenital disorder of glycosylation Id DOID:0080556 A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27. url:https://www.ncbi.nlm.nih.gov/pubmed/28108845 A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13. GARD:9831 MIM:608799 ORDO:79322 congenital disorder of glycosylation 1e disease_ontology DOID:0080557 congenital disorder of glycosylation Ie DOID:0080557 A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/23856421 A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13. GARD:9832 MIM:609180 ORDO:79323 congenital disorder of glycosylation 1f disease_ontology DOID:0080558 congenital disorder of glycosylation If DOID:0080558 A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11733556 A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13. GARD:9833 MIM:607143 ORDO:79324 ALG12-congenital disorder of glycosylation congenital disorder of glycosylation 1g disease_ontology DOID:0080559 congenital disorder of glycosylation Ig DOID:0080559 A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13. url:https://ghr.nlm.nih.gov/condition/alg12-congenital-disorder-of-glycosylation url:https://www.ncbi.nlm.nih.gov/pubmed/17506107 A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14. GARD:9834 MIM:608104 ORDO:79325 congenital disorder of glycosylation 1h disease_ontology DOID:0080560 congenital disorder of glycosylation Ih DOID:0080560 A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14. url:https://www.ncbi.nlm.nih.gov/pubmed/28108845 A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22. GARD:9836 MIM:607906 ORDO:79326 congenital disorder of glycosylation 1i disease_ontology DOID:0080561 congenital disorder of glycosylation Ii DOID:0080561 A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/12684507 A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23. GARD:9837 MIM:608093 ORDO:86309 Congenital disorder of glycosylation 1j disease_ontology DOID:0080562 congenital disorder of glycosylation Ij DOID:0080562 A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/12872255 A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13. GARD:9838 MIM:608540 ORDO:79327 congenital disorder of glycosylation 1k disease_ontology DOID:0080563 congenital disorder of glycosylation Ik DOID:0080563 A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13. url:https://ghr.nlm.nih.gov/condition/alg1-congenital-disorder-of-glycosylation url:https://www.ncbi.nlm.nih.gov/pubmed/28108845 A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23. GARD:9839 MIM:608776 ORDO:79328 congenital disorder of glycosylation 1l disease_ontology DOID:0080564 congenital disorder of glycosylation Il DOID:0080564 A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/26453364 A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34. GARD:12393 MIM:610768 ORDO:91131 DOLK-congenital disorder of glycosylation congenital disorder of glycosylation 1m dolichol kinase deficiency disease_ontology DOID:0080565 congenital disorder of glycosylation Im DOID:0080565 A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34. url:https://ghr.nlm.nih.gov/condition/dolk-congenital-disorder-of-glycosylation url:https://www.ncbi.nlm.nih.gov/pubmed/17273964 A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21. GARD:12394 MIM:612015 ORDO:244310 congenital disorder of glycosylation 1n disease_ontology DOID:0080566 congenital disorder of glycosylation In DOID:0080566 A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/23111317 A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14. GARD:12396 MIM:613661 ORDO:280071 congenital disorder of glycosylation 1p disease_ontology DOID:0080567 congenital disorder of glycosylation Ip DOID:0080567 A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14. url:https://www.ncbi.nlm.nih.gov/pubmed/22213132 A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12. GARD:12397 MIM:612379 ORDO:324737 congenital disorder of glycosylation 1q disease_ontology DOID:0080568 congenital disorder of glycosylation Iq DOID:0080568 A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12. url:https://www.ncbi.nlm.nih.gov/pubmed/20637498 A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36. GARD:12398 MIM:614507 ORDO:300536 congenital disorder of glycosylation 1r disease_ontology DOID:0080569 congenital disorder of glycosylation Ir DOID:0080569 A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/22305527 A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. MIM:614921 ORDO:319646 congenital disorder of glycosylation 1t disease_ontology DOID:0080570 congenital disorder of glycosylation It DOID:0080570 A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. url:https://www.ncbi.nlm.nih.gov/pubmed/24499211 A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. GARD:12416 MIM:615042 ORDO:329178 congenital disorder of glycosylation 1u disease_ontology DOID:0080571 congenital disorder of glycosylation Iu DOID:0080571 A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/23109149 A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24. MIM:615596 ORDO:370921 congenital disorder of glycosylation 1w disease_ontology DOID:0080572 congenital disorder of glycosylation Iw DOID:0080572 A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24. url:https://www.ncbi.nlm.nih.gov/pubmed/23842455 A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23. MIM:615597 ORDO:370924 congenital disorder of glycosylation 1x disease_ontology DOID:0080573 congenital disorder of glycosylation Ix DOID:0080573 A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23. url:https://www.ncbi.nlm.nih.gov/pubmed/23842455 A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28. GARD:12405 MIM:300934 ORDO:370927 congenital disorder of glycosylation 1y disease_ontology DOID:0080574 congenital disorder of glycosylation Iy DOID:0080574 A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/26264460 A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12. MIM:245600 ORDO:284139 Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome disease_ontology DOID:0080575 Larsen-like syndrome B3GAT3 type DOID:0080575 A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12. url:https://www.ncbi.nlm.nih.gov/articles/PMC4654953/ url:https://www.ncbi.nlm.nih.gov/pubmed/25893793 A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22. GARD:10057 MESH:C535785 MIM:610442 ORDO:168454 disease_ontology DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type DOID:0080576 A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/27213289 A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. disease_ontology DOID:0080577 polygenic disease DOID:0080577 A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. url:https://www.ncbi.nlm.nih.gov/books/NBK5191/#IX-P A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes. disease_ontology DOID:0080578 digenic disease DOID:0080578 A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes. url:https://www.ncbi.nlm.nih.gov/books/NBK5191/#IX-P url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778050/ url:https://www.ncbi.nlm.nih.gov/pubmed/28977688 A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27. MESH:C535308 MIM:210200 disease_ontology DOID:0080579 3-methylcrotonyl-CoA carboxylase 1 deficiency DOID:0080579 A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27. url:https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13. MESH:C535309 MIM:210210 disease_ontology DOID:0080580 3-methylcrotonyl-CoA carboxylase 2 deficiency DOID:0080580 A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13. url:https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23. MIM:618011 disease_ontology DOID:0080581 hyperekplexia 4 MIM:618011 DOID:0080581 A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23. url:https://www.ncbi.nlm.nih.gov/pubmed/29390050 A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. MIM:618275 disease_ontology DOID:0080582 hypotrichosis 14 DOID:0080582 A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. url:https://www.ncbi.nlm.nih.gov/pubmed/30401459 A Wolfram syndrome that has_material_basis_in mutation in mtDNA. MESH:C564012 MIM:598500 DIDMOAD, mitochondrial form diabetes mellitus AND insipidus with optic atrophy AND deafness mitochondrial form disease_ontology DOID:0080583 Wolfram syndrome, mitochondrial form DOID:0080583 A Wolfram syndrome that has_material_basis_in mutation in mtDNA. url:https://www.ncbi.nlm.nih.gov/pubmed/8383698 A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16. MIM:614296 disease_ontology DOID:0080584 autosomal dominant Wolfram syndrome DOID:0080584 A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16. url:https://www.ncbi.nlm.nih.gov/pubmed/18544103 A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15. MIM:601390 disease_ontology DOID:0080585 Van Maldergem syndrome 1 DOID:0080585 A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/24056717 A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28. MIM:615546 disease_ontology DOID:0080586 Van Maldergem syndrome 2 DOID:0080586 A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28. url:https://www.ncbi.nlm.nih.gov/pubmed/24056717 A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. MIM:616224 disease_ontology DOID:0080587 congenital myasthenic syndrome 22 DOID:0080587 A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. url:https://www.ncbi.nlm.nih.gov/pubmed/28726805 An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34. MIM:613506 disease_ontology DOID:0080588 agammaglobulinemia 5 DOID:0080588 An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/14660746 A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. MIM:118100 disease_ontology DOID:0080589 Klippel-Feil syndrome 1 DOID:0080589 A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. url:https://www.ncbi.nlm.nih.gov/pubmed/18425797 A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21. MIM:214300 disease_ontology DOID:0080590 Klippel-Feil syndrome 2 DOID:0080590 A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21. url:https://www.ncbi.nlm.nih.gov/pubmed/23290072 A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13. MIM:613702 disease_ontology DOID:0080591 Klippel-Feil syndrome 3 DOID:0080591 A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/19864492 A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12. MIM:616549 ORDO:447974 disease_ontology DOID:0080592 Klippel-Feil syndrome 4 DOID:0080592 A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12. url:https://www.ncbi.nlm.nih.gov/pubmed/25748484 An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32. MIM:608864 disease_ontology DOID:0080593 orofacial cleft 6 DOID:0080593 An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32. url:https://www.ncbi.nlm.nih.gov/pubmed/17702008 A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24. GARD:2816 MIM:243700 ORDO:217390 disease_ontology DOID:0080594 hyper IgE recurrent infection syndrome 2 DOID:0080594 A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24. url:https://ghr.nlm.nih.gov/condition/dock8-immunodeficiency-syndrome#synonyms url:https://www.ncbi.nlm.nih.gov/pubmed/19776401 A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11. MIM:618282 disease_ontology DOID:0080595 hyper IgE recurrent infection syndrome 3 DOID:0080595 A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11. url:https://www.ncbi.nlm.nih.gov/pubmed/29907690 A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11. MIM:618523 disease_ontology DOID:0080596 hyper IgE recurrent infection syndrome 4 DOID:0080596 A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11. url:https://www.ncbi.nlm.nih.gov/pubmed/28747427 A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone. MIM:PS610253 disease_ontology DOID:0080597 Kleefstra syndrome DOID:0080597 A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone. url:http://ghr.nlm.nih.gov/condition/kleefstra-syndrome A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36. MIM:617768 ORDO:261652 disease_ontology DOID:0080598 Kleefstra syndrome 2 DOID:0080598 A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36. url:https://www.ncbi.nlm.nih.gov/pubmed/29069077 A viral infectious disease that has_material_basis_in Coronavirus. disease_ontology DOID:0080599 Coronavirus infectious disease DOID:0080599 A viral infectious disease that has_material_basis_in Coronavirus. url:https://www.cdc.gov/coronavirus/ url:https://www.ncbi.nlm.nih.gov/books/NBK7782/ url:https://www.who.int/health-topics/coronavirus A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum. ICD10CM:U07.1 MESH:D000086382 NCI:C171133 SNOMEDCT_US_2023_03_01:840539006 UMLS_CUI:C5203670 2019 Novel Coronavirus (2019-nCoV) 2019-nCoV infection COVID19 SARS-CoV-2 infection Wuhan coronavirus infection Wuhan seafood market pneumonia virus infection disease_ontology DOID:0080600 COVID-19 ICD10CM:U07.1 MESH:D000086382 NCI:C171133 UMLS_CUI:C5203670 DOID:0080600 A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum. url:https://pubmed.ncbi.nlm.nih.gov/32007143/ url:https://pubmed.ncbi.nlm.nih.gov/32007145/ url:https://www.cdc.gov/covid/about/ url:https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=2697049 url:https://www.who.int/emergencies/diseases/novel-coronavirus-2019 COVID19 A benign neoplasm that derives_from germ cells. disease_ontology DOID:0080601 germ cell benign neoplasm DOID:0080601 A benign neoplasm that derives_from germ cells. url:https://en.wikipedia.org/wiki/Germ_cell_tumor A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. ICDO:9080/1 NCI:C67107 disease_ontology DOID:0080602 benign teratoma DOID:0080602 A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C67107&ns=ncit A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3. MIM:106300 disease_ontology DOID:0080603 ankylosing spondylitis 1 DOID:0080603 A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/6332689 A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34. MIM:183840 disease_ontology DOID:0080604 ankylosing spondylitis 2 DOID:0080604 A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34. url:https://www.ncbi.nlm.nih.gov/pubmed/15234954 A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3. MIM:613238 disease_ontology DOID:0080605 ankylosing spondylitis 3 DOID:0080605 A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19416804 An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. MIM:107250 disease_ontology DOID:0080606 anterior segment dysgenesis 1 DOID:0080606 An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/27839872 An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33. MIM:610256 disease_ontology DOID:0080607 anterior segment dysgenesis 2 DOID:0080607 An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33. url:https://www.ncbi.nlm.nih.gov/pubmed/21150893 An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. MIM:601631 disease_ontology DOID:0080608 anterior segment dysgenesis 3 DOID:0080608 An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. url:https://www.ncbi.nlm.nih.gov/pubmed/27839872 An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. MIM:137600 disease_ontology DOID:0080609 anterior segment dysgenesis 4 DOID:0080609 An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. url:https://www.ncbi.nlm.nih.gov/pubmed/27839872 An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. MIM:604229 disease_ontology DOID:0080610 anterior segment dysgenesis 5 DOID:0080610 An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. url:https://www.ncbi.nlm.nih.gov/pubmed/27839872 An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22. MIM:617315 disease_ontology DOID:0080611 anterior segment dysgenesis 6 DOID:0080611 An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22. url:https://www.ncbi.nlm.nih.gov/pubmed/27839872 An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25. MIM:269400 disease_ontology DOID:0080612 anterior segment dysgenesis 7 DOID:0080612 An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25. url:https://www.ncbi.nlm.nih.gov/pubmed/27839872 An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13. MIM:617319 disease_ontology DOID:0080613 anterior segment dysgenesis 8 DOID:0080613 An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/27839872 An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1. MIM:113750 disease_ontology DOID:0080614 oculocutaneous albinism type VI DOID:0080614 An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1. url:https://www.omim.org/entry/203100?search=albinism%20type%20ia&highlight=albinism%20ia%20type A kidney benign neoplasm that is located_in the kidney cortex. benign nephroma disease_ontology DOID:0080615 nephroma DOID:0080615 A kidney benign neoplasm that is located_in the kidney cortex. url:https://www.stjude.org/disease/nephroma.html A kidney disease that is located_in the kidney cortex. disease_ontology DOID:0080616 kidney cortex disease DOID:0080616 A kidney disease that is located_in the kidney cortex. url:https://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/blood-vessel-disorders-of-the-kidneys/cortical-necrosis-of-the-kidneys An immune system organ benign neoplasm that is located_in the lymph nodes. NCI:C3636 SNOMEDCT_US_2021_09_01:92197001 disease_ontology DOID:0080617 lymph node benign neoplasm DOID:0080617 An immune system organ benign neoplasm that is located_in the lymph nodes. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C3636&key=n1052416749&b=1&n=null A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. disease_ontology DOID:0080618 lymph node carcinoma DOID:0080618 A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:https://medlineplus.gov/ency/patientinstructions/000824.htm url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5829610/ A sensory system benign neoplasm that is located in the auditory system. NCI:C8417 disease_ontology DOID:0080619 auditory system benign neoplasm DOID:0080619 A sensory system benign neoplasm that is located in the auditory system. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.02d&ns=ncit&code=C8417&key=n1512346313&b=1&n=null An adrenal cortex disease that is characterized by insufficient production of glucocorticoids. MIM:PS202200 disease_ontology DOID:0080620 familial glucocorticoid deficiency DOID:0080620 An adrenal cortex disease that is characterized by insufficient production of glucocorticoids. url:https://ghr.nlm.nih.gov/condition/familial-glucocorticoid-deficiency A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11. MIM:202200 disease_ontology DOID:0080621 glucocorticoid deficiency 1 DOID:0080621 A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11. url:https://www.ncbi.nlm.nih.gov/pubmed/19500760 A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3. MIM:202370 disease_ontology DOID:0080622 peroxisome biogenesis disorder 2B DOID:0080622 A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/22871920 A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. Deafness-enamel hypoplasia-nail defects syndrome MIM:234580 peroxisomal biogenesis disorder 1C disease_ontology DOID:0080623 Heimler syndrome 1 DOID:0080623 A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. url:https://www.ncbi.nlm.nih.gov/pubmed/26387595 A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21. MIM:616617 peroxisomal biogenesis disorder 4C disease_ontology DOID:0080624 Heimler syndrome 2 DOID:0080624 A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/16530715 A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13. MIM:202700 disease_ontology DOID:0080625 severe congenital neutropenia 1 DOID:0080625 A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/17133096 An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. MIM:203400 ORDO:427 aldosterone synthase deficiency disease_ontology DOID:0080626 corticosterone methyloxidase deficiency 1 DOID:0080626 An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. url:https://ghr.nlm.nih.gov/condition/corticosterone-methyloxidase-deficiency A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability. GARD:612 MIM:PS203650 ORDO:2850 disease_ontology DOID:0080627 alopecia-mental retardation syndrome DOID:0080627 A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability. url:https://www.ncbi.nlm.nih.gov/pubmed/17451405 An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27. MIM:203650 disease_ontology DOID:0080628 alopecia-mental retardation syndrome 1 DOID:0080628 An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27. url:https://www.ncbi.nlm.nih.gov/pubmed/28054173 An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31. MESH:C563668 MIM:610422 disease_ontology DOID:0080629 alopecia-mental retardation syndrome 2 DOID:0080629 An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31. url:https://www.ncbi.nlm.nih.gov/pubmed/16922726 A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. DOID:7061 ICDO:9836/3 NCI:C8936 SNOMEDCT_US_2023_03_01:1162660006 UMLS_CUI:C0862030 B lymphoblastic leukemia/lymphoma B-ALL precursor B lymphoblastic lymphoma/leukemia disease_ontology DOID:0080630 B-lymphoblastic leukemia/lymphoma DOID:0080630 A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. url:https://en.wikipedia.org/wiki/Precursor_B-cell_lymphoblastic_leukemia B-ALL A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. GARD:955 MIM:211380 ORDO:1299 branchioskeletogenital syndrome disease_ontology DOID:0080631 Elsahy-Waters syndrome DOID:0080631 A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. url:https://www.ncbi.nlm.nih.gov/pubmed/20949527 A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13. MIM:211500 riboflavin transporter deficiency neuronopathy disease_ontology DOID:0080632 Fazio-Londe disease DOID:0080632 A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13. url:https://www.ncbi.nlm.nih.gov/books/NBK299312/ A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26. MIM:212093 disease_ontology DOID:0080633 developmental cardiac valvular defect DOID:0080633 A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26. url:https://www.ncbi.nlm.nih.gov/pubmed/29581714 A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. MIM:600165 MIM:609549 MIM:611897 MIM:615972 MIM:PS600165 ORDO:35612 disease_ontology DOID:0080634 nanophthalmos DOID:0080634 A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. url:https://eyewiki.aao.org/Nanophthalmos A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23. MIM:212550 disease_ontology DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy DOID:0080635 A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23. url:https://www.ncbi.nlm.nih.gov/pubmed/24702266 A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body. MIM:PS309800 disease_ontology DOID:0080636 syndromic microphthalmia DOID:0080636 A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body. url:https://ghr.nlm.nih.gov/condition/microphthalmia A microphthalmia that occurs by itself. disease_ontology DOID:0080637 isolated microphthalmia DOID:0080637 A microphthalmia that occurs by itself. url:https://ghr.nlm.nih.gov/condition/microphthalmia An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood. NCI:C8644 B acute lymphoblastic leukemia B-cell acute lymphocytic leukemia disease_ontology DOID:0080638 B-cell acute lymphoblastic leukemia DOID:0080638 An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/b-cell-acute-lymphoblastic-leukemia A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. disease_ontology DOID:0080639 bone sarcoma DOID:0080639 A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805807 A biliary tract benign neoplasm that is located_in the gallbladder. NCI:C4440 disease_ontology DOID:0080640 gallbladder benign neoplasm DOID:0080640 A biliary tract benign neoplasm that is located_in the gallbladder. url:https://link.springer.com/chapter/10.1007/978-3-319-12985-3_15 A tongue cancer that derives_from epithelial cells that cover the surface of the tongue. disease_ontology DOID:0080641 tongue carcinoma DOID:0080641 A tongue cancer that derives_from epithelial cells that cover the surface of the tongue. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.02d&ns=ncit&code=C4824&key=1996231099&b=1&n=null A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in Middle East respiratory syndrome-related coronavirus (MERS-CoV, Betacoronavirus cameli). NCI:C128424 UMLS_CUI:C3694279 MERS disease_ontology DOID:0080642 Middle East respiratory syndrome ICD10CM:B34.2 NCI:C128424 UMLS_CUI:C3694279 DOID:0080642 A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in Middle East respiratory syndrome-related coronavirus (MERS-CoV, Betacoronavirus cameli). url:https://en.wikipedia.org/wiki/Middle_East_respiratory_syndrome url:https://pubmed.ncbi.nlm.nih.gov/23891402/ url:https://pubmed.ncbi.nlm.nih.gov/29495250 url:https://www.cdc.gov/mers/about/index.html url:https://www.who.int/health-topics/middle-east-respiratory-syndrome-coronavirus-mers MERS A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. ICDO:9812/3 NCI:C80331 ORDO:585909 UMLS_CUI:C5680319 B-ALL with BCR-ABL1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2);BCR-ABL1 disease_ontology DOID:0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 ORDO:585909 UMLS_CUI:C5680319 DOID:0080643 A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80331 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. ICDO:9813/3 NCI:C80342 ORDO:585918 B lymphoblastic leukemia/lymphoma with t(v;11q23); MLL rearranged B-ALL KMT2A rearranged B-lymphoblastic leukemia/lymphoma KMT2A rearranged B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged disease_ontology DOID:0080644 B-lymphoblastic leukemia/lymphoma MLL rearranged ORDO:585918 DOID:0080644 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80342 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. ICDO:9814/3 NCI:C80343 ORDO:585929 B-ALL with ETV6-RUNX1 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 disease_ontology DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ORDO:585929 DOID:0080645 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80343 A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. ICDO:9815/3 NCI:C80335 ORDO:585936 UMLS_CUI:C2698311 B-ALL with hyperdiploidy disease_ontology DOID:0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy ORDO:585936 UMLS_CUI:C2698311 DOID:0080646 A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80335 A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes. ICDO:9816/3 NCI:C80338 ORDO:585942 UMLS_CUI:C2698312 B-ALL with hypodiploidy disease_ontology DOID:0080647 B-lymphoblastic leukemia/lymphoma with hypodiploidy ORDO:585942 UMLS_CUI:C2698312 DOID:0080647 A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80338 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). ICDO:9817/3 NCI:C80346 ORDO:585948 B-ALL with IL3-IGH B-lymphoblastic leukemia/lymphoma with IL3-IGH B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) IL3-IGH disease_ontology DOID:0080648 B-lymphoblastic leukemia/lymphoma with IGH::IL3 fusion ORDO:585948 DOID:0080648 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80346 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. ICDO:9818/3 NCI:C80347 ORDO:585956 UMLS_CUI:C5680320 B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) B-ALL with TCF3-PBX1 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3);TCF3-PBX1 disease_ontology DOID:0080649 B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 ORDO:585956 UMLS_CUI:C5680320 DOID:0080649 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80347 A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion. ICDO:9819/3 B lymphoblastic leukemia/lymphoma, BCR-ABL1-like B-ALL BCR-ABL1–like disease_ontology DOID:0080650 B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like DOID:0080650 A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion. url:https://www.ncbi.nlm.nih.gov/pubmed/31069976 A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. NCI:C130039 B-ALL with iAMP21 Intrachromosomal amplification of chromosome 21 (iAMP21) disease_ontology DOID:0080651 B-lymphoblastic leukemia/lymphoma with iAMP21 DOID:0080651 A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C130039 A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16. MIM:167030 disease_ontology DOID:0080652 calcium oxalate nephrolithiasis DOID:0080652 A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16. url:https://www.ncbi.nlm.nih.gov/pubmed/16570061 A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract. MESH:D052878 disease_ontology DOID:0080653 urolithiasis DOID:0080653 A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3126068/ An urolithiasis in which the composition of the stones is predominantly urate. MIM:191700 NCI:C123245 disease_ontology DOID:0080654 uric acid urolithiasis DOID:0080654 An urolithiasis in which the composition of the stones is predominantly urate. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC290947/pdf/jcinvest00312-0142.pdf url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5512151/ url:https://www.ncbi.nlm.nih.gov/pubmed/14036165 A kidney disease that is characterized by formation of renal calcium stones or bone demineralization. KEGG:H00888 MIM:PS612286 disease_ontology DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis DOID:0080655 A kidney disease that is characterized by formation of renal calcium stones or bone demineralization. url:https://www.nejm.org/doi/full/10.1056/NEJMoa020028 A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. NCI:C120199 ORDO:1772 disease_ontology DOID:0080656 45,X/46,XY mixed gonadal dysgenesis DOID:0080656 A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. url:https://en.wikipedia.org/wiki/45,X/46,XY_mosaicism A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11. MIM:107600 disease_ontology DOID:0080661 nonsyndromic aplasia cutis congenita DOID:0080661 A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11. url:https://ghr.nlm.nih.gov/condition/nonsyndromic-aplasia-cutis-congenita url:https://www.ncbi.nlm.nih.gov/pubmed/9415483 A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype. MIM:108770 ORDO:1344 disease_ontology DOID:0080662 atrial standstill 1 DOID:0080662 A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype. url:https://www.ncbi.nlm.nih.gov/pubmed/16176547 A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36. MIM:615745 disease_ontology DOID:0080663 atrial standstill 2 DOID:0080663 A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/16176547 An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. GARD:10072 MESH:C536169 MIM:112250 NCI:C122660 ORDO:85182 Hardcastle syndrome bone dysplasia-medullary fibrosarcoma syndrome diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome disease_ontology DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma DOID:0080664 An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. url:https://pubmed.ncbi.nlm.nih.gov/8781110 url:https://www.ncbi.nlm.nih.gov/pubmed/22464254 An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin. GARD:12721 MIM:122700 disease_ontology DOID:0080665 warfarin resistance DOID:0080665 An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin. url:https://ghr.nlm.nih.gov/condition/warfarin-resistance An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin. MESH:C567080 disease_ontology DOID:0080666 warfarin sensitivity DOID:0080666 An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin. url:https://ghr.nlm.nih.gov/condition/warfarin-sensitivity#inheritance A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles. very severe spinal muscular atrophy disease_ontology DOID:0080667 spinal muscular atrophy type 0 DOID:0080667 A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles. url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy url:https://www.ncbi.nlm.nih.gov/pubmed/?term=10700538 A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22. MIM:618031 disease_ontology DOID:0080669 posterior polymorphous corneal dystrophy 4 DOID:0080669 A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22. url:https://pubmed.ncbi.nlm.nih.gov/29499165/ A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21. MIM:122100 disease_ontology DOID:0080670 Meesmann corneal dystrophy 1 DOID:0080670 A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/22174841/ A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13. MIM:618767 disease_ontology DOID:0080671 Meesmann corneal dystrophy 2 DOID:0080671 A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/18806880/ A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21. MIM:228520 disease_ontology DOID:0080672 fibrochondrogenesis 1 DOID:0080672 A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21. url:https://pubmed.ncbi.nlm.nih.gov/21035103/ A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3. MIM:614524 disease_ontology DOID:0080673 fibrochondrogenesis 2 DOID:0080673 A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3. url:https://pubmed.ncbi.nlm.nih.gov/22246659/ A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. NCI:C53555 UMLS_CUI:C3642346 Luminal B Breast Carcinoma disease_ontology DOID:0080674 luminal breast carcinoma B DOID:0080674 A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/ A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21. MIM:604841 disease_ontology DOID:0080675 Stickler syndrome 2 DOID:0080675 A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21. url:https://pubmed.ncbi.nlm.nih.gov/15286167/ A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. MIM:108300 ORDO:90653 disease_ontology DOID:0080676 Stickler syndrome 1 DOID:0080676 A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/21671392/ An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene. MIM:184840 disease_ontology DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant DOID:0080677 An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene. url:https://pubmed.ncbi.nlm.nih.gov/15372529/ A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTG gene, which encodes the gamma subunit of N-acetylglucosamine-1-phosphotransferase, on chromosome 16p13. MESH:C565367 MIM:252605 ORDO:423470 disease_ontology DOID:0080678 mucolipidosis III gamma DOID:0080678 A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTG gene, which encodes the gamma subunit of N-acetylglucosamine-1-phosphotransferase, on chromosome 16p13. url:https://pubmed.ncbi.nlm.nih.gov/10712439/ An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine. MIM:243180 disease_ontology DOID:0080679 neuronal intestinal dysplasia type A DOID:0080679 An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine. url:https://pubmed.ncbi.nlm.nih.gov/8882403/ An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus. MIM:601223 disease_ontology DOID:0080680 neuronal intestinal dysplasia type B DOID:0080680 An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus. url:https://pubmed.ncbi.nlm.nih.gov/8882403/ An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28. GARD:3017 MIM:300048 disease_ontology DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction DOID:0080681 An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28. url:https://pubmed.ncbi.nlm.nih.gov/8644737/ An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait. MIM:609629 disease_ontology DOID:0080682 autosomal dominant familial visceral neuropathy DOID:0080682 An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait. url:https://pubmed.ncbi.nlm.nih.gov/16088914/ A nail disease that is characterized by underdevelopment of nails. MIM:PS161050 disease_ontology DOID:0080683 nonsyndromic congenital nail disorder DOID:0080683 A nail disease that is characterized by underdevelopment of nails. url:https://pubmed.ncbi.nlm.nih.gov/26149975/ A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system. ICDO:9385/3 NCI:C129309 diffuse intrinsic pontine glioma disease_ontology DOID:0080684 diffuse midline glioma, H3 K27M-mutant DOID:0080684 A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system. url:https://braintumor.org/wp-content/assets/WHO-Central-Nervous-System-Tumor-Classification.pdf url:https://pubmed.ncbi.nlm.nih.gov/31290035/ url:https://www.frontiersin.org/articles/10.3389/fonc.2019.00031/full An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall. disease_ontology DOID:0080685 aortic dissection DOID:0080685 An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall. url:https://www.ncbi.nlm.nih.gov/books/NBK441963/ A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24. MIM:615883 ORDO:2593 disease_ontology DOID:0080686 tubular aggregate myopathy 2 ORDO:2593 DOID:0080686 A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/ A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. MIM:300718 disease_ontology DOID:0080687 reducing body myopathy 1B DOID:0080687 A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. url:https://pubmed.ncbi.nlm.nih.gov/18952429/ A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes. GARD:3007 MESH:C536987 MIM:PS257300 ORDO:1052 disease_ontology DOID:0080688 mosaic variegated aneuploidy syndrome DOID:0080688 A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes. url:https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein. MIM:617598 disease_ontology DOID:0080689 mosaic variegated aneuploidy syndrome 3 DOID:0080689 A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein. url:https://pubmed.ncbi.nlm.nih.gov/28553959/ A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. RAS/mitogen-activated protein kinase syndrome disease_ontology DOID:0080690 RASopathy DOID:0080690 A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. url:https://en.wikipedia.org/wiki/RASopathy url:https://www.nature.com/articles/jhg2015114 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115674/ A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay. GARD:10719 ORDO:2701 disease_ontology DOID:0080691 Noonan syndrome-like disorder with loose anagen hair DOID:0080691 A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay. url:https://rarediseases.info.nih.gov/diseases/10719/disease A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25. MIM:607721 disease_ontology DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 DOID:0080692 A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25. url:https://pubmed.ncbi.nlm.nih.gov/25137548/ url:https://pubmed.ncbi.nlm.nih.gov/30329053/ url:https://www.ncbi.nlm.nih.gov/articles/PMC4213265/ A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23. MIM:617506 disease_ontology DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 DOID:0080693 A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23. url:https://pubmed.ncbi.nlm.nih.gov/27264673/ url:https://pubmed.ncbi.nlm.nih.gov/28211982/ A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy. GARD:65 MESH:C537548 MIM:PS251300 NCI:C132195 ORDO:2065 SNOMEDCT_US_2023_03_01:721297008 UMLS_CUI:C0795949 disease_ontology DOID:0080694 Galloway-Mowat syndrome DOID:0080694 A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy. url:https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome url:https://pubmed.ncbi.nlm.nih.gov/20083416/ url:https://www.ncbi.nlm.nih.gov/pubmed/26123727 A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, hearing loss, heart abnormalities, and short stature. GARD:10041 MESH:C537411 MIM:608572 ORDO:1200 Choanal atresia - deafness - cardiac defects - dysmorphism syndrome disease_ontology DOID:0080695 Burn-McKeown syndrome DOID:0080695 A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, hearing loss, heart abnormalities, and short stature. url:https://ghr.nlm.nih.gov/condition/burn-mckeown-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK373577/ A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet. GARD:7894 MESH:C536709 MIM:277950 disease_ontology DOID:0080696 Winchester syndrome DOID:0080696 A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet. url:https://ghr.nlm.nih.gov/condition/winchester-syndrome url:https://pubmed.ncbi.nlm.nih.gov/29741626/ A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. DOID:0050780 GARD:193 KEGG:H00583 MIM:300000 Opitz G/BBB Syndrome Opitz GBBB syndrome type I disease_ontology DOID:0080697 Opitz GBBB syndrome DOID:0080697 A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. url:http://www.genome.jp/dbget-bin/www_bget?ds:H00583 url:http://www.ncbi.nlm.nih.gov/books/NBK1327/ url:http://www.ncbi.nlm.nih.gov/books/NBK1523/ url:https://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome url:https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome/ url:https://pubmed.ncbi.nlm.nih.gov/15558842/ url:https://www.ncbi.nlm.nih.gov/books/NBK1327/ A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2. MIM:145420 ORDO:1519 Opitz GBBB syndrome type II SPECC1L-related hypertelorism syndrome Teebi hypertelorism syndrome-1 disease_ontology DOID:0080698 Teebi hypertelorism syndrome 1 DOID:0080698 A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2. url:https://pubmed.ncbi.nlm.nih.gov/25412741/ url:https://pubmed.ncbi.nlm.nih.gov/30472488/ url:https://pubmed.ncbi.nlm.nih.gov/31953237/ An amino acid metabolic disorder characterized by the lack of glutathione production. GARD:10047 MESH:C536835 disease_ontology DOID:0080699 glutathione synthetase deficiency DOID:0080699 An amino acid metabolic disorder characterized by the lack of glutathione production. url:https://ghr.nlm.nih.gov/condition/glutathione-synthetase-deficiency url:https://pubmed.ncbi.nlm.nih.gov/31198081/ A physical disorder that is characterized by impairment of the development of the lower half of the body. caudal dysgenesis syndrome caudal dysplasia sequence caudal regression sequence sacral agenesis sacral defect with anterior meningocele disease_ontology DOID:0080700 caudal regression syndrome DOID:0080700 A physical disorder that is characterized by impairment of the development of the lower half of the body. url:https://www.ncbi.nlm.nih.gov/pubmed/30574238 url:https://www.ncbi.nlm.nih.gov/pubmed/32200015 A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11. MIM:188050 disease_ontology DOID:0080701 prothrombin thrombophilia DOID:0080701 A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11. url:https://pubmed.ncbi.nlm.nih.gov/21707594/ A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent. ICDO:9475/3 NCI:C129440 disease_ontology DOID:0080702 medulloblastoma WNT activated DOID:0080702 A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent. url:https://pubmed.ncbi.nlm.nih.gov/29582169/ url:https://radiopaedia.org/articles/medulloblastoma-wnt-subgroup?lang=us A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent. NCI:C129441 disease_ontology DOID:0080703 medulloblastoma SHH activated DOID:0080703 A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent. url:https://onlinelibrary.wiley.com/doi/full/10.1002/acn3.762 url:https://pubmed.ncbi.nlm.nih.gov/29582169/ url:https://radiopaedia.org/articles/medulloblastoma-shh-subgroup?lang=us A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. ICDO:9476/3 NCI:C129442 disease_ontology DOID:0080704 medulloblastoma SHH activated and TP53 mutant DOID:0080704 A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. url:https://ascopubs.org/doi/10.1200/JCO.2012.48.5052 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490254/ A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. ICDO:9471/3 NCI:C129443 Medulloblastoma SHH-Activated TP53-Wildtype disease_ontology DOID:0080705 medulloblastoma SHH activated and TP53 wild-type DOID:0080705 A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743072/ A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent. ICDO:9477/3 NCI:C129444 disease_ontology DOID:0080706 medulloblastoma non-WNT/non-SHH DOID:0080706 A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent. url:https://pubmed.ncbi.nlm.nih.gov/30392813/ A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. NCI:C129445 disease_ontology DOID:0080707 medulloblastoma non-WNT/non-SHH group 3 DOID:0080707 A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. url:https://pubmed.ncbi.nlm.nih.gov/29427151/ url:https://pubmed.ncbi.nlm.nih.gov/30876441/ A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present. NCI:C129446 disease_ontology DOID:0080708 medulloblastoma non-WNT/non-SHH group 4 DOID:0080708 A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present. url:https://pubmed.ncbi.nlm.nih.gov/29427151/ A primary immunodeficiency disease that results from deficiency in the number or function of CD56+CD3− NK cell in peripheral blood. disease_ontology DOID:0080709 NK cell deficiency DOID:0080709 A primary immunodeficiency disease that results from deficiency in the number or function of CD56+CD3− NK cell in peripheral blood. url:https://www.frontiersin.org/articles/10.3389/fimmu.2019.01703/full A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency. disease_ontology DOID:0080710 T cell and NK cell immunodeficiency DOID:0080710 A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency. url:https://pubmed.ncbi.nlm.nih.gov/31257346/ A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19. MESH:C000705967 UMLS_CUI:C5389369 MIS-C multisystem inflammatory disorder in children and adolescents paediatric inflammatory multisystemic syndrome disease_ontology DOID:0080711 multisystem inflammatory syndrome in children ORDO:598363 UMLS_CUI:C5539184 MESH:C000705967 UMLS_CUI:C5389369 DOID:0080711 A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19. url:https://pmc.ncbi.nlm.nih.gov/articles/PMC9841678/ url:https://pubmed.ncbi.nlm.nih.gov/40074901/ url:https://www.cdc.gov/mis/about/ url:https://www.cdc.gov/mmwr/volumes/69/wr/mm6932e2.htm?s_cid=mm6932e2_x MIS-C A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene. gene duplication syndrome disease_ontology DOID:0080712 gene duplication disease DOID:0080712 A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene. url:https://www.genome.gov/genetics-glossary/Duplication url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656685/ A syndrome that has_material_basis_in an extra copy of the MECP2 gene in each cell, occurs almost exclusively in males and that is characterized by delayed development of motor skills such as sitting and walking. disease_ontology DOID:0080713 obsolete MECP2 duplication syndrome true DOID:0080713 A syndrome that has_material_basis_in an extra copy of the MECP2 gene in each cell, occurs almost exclusively in males and that is characterized by delayed development of motor skills such as sitting and walking. url:https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome url:https://rarediseases.info.nih.gov/diseases/9781/mecp2-duplication-syndrome A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems. GARD:13193 disease_ontology DOID:0080714 hereditary alpha tryptasemia syndrome DOID:0080714 A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems. url:https://pubmed.ncbi.nlm.nih.gov/27749843/ url:https://pubmed.ncbi.nlm.nih.gov/30007465/ url:https://rarediseases.info.nih.gov/diseases/13193/hereditary-alpha-tryptasemia-syndrome url:https://www.niaid.nih.gov/research/hereditary-alpha-tryptasemia-faq A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. MIM:618721 DEE82 early infantile epileptic encephalopathy 82 disease_ontology DOID:0080715 developmental and epileptic encephalopathy 82 DOID:0080715 A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. url:https://pubmed.ncbi.nlm.nih.gov/31422819/ DEE82 A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. MIM:PS615438 ORDO:370088 disease_ontology DOID:0080716 infantile liver failure syndrome DOID:0080716 A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. url:https://rarediseases.info.nih.gov/diseases/13114/disease An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32. GARD:13114 MIM:615438 disease_ontology DOID:0080717 infantile liver failure syndrome 1 DOID:0080717 An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32. url:https://pubmed.ncbi.nlm.nih.gov/22607940/ A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. GARD:9493 MESH:C536816 MESH:C538329 MIM:605820 NCI:C176900 ORDO:602 SNOMEDCT_US_2023_03_01:702382000 UMLS_CUI:C1833373 UMLS_CUI:C1853926 Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2 disease_ontology Distal Myopathy with Rimmed Vacuoles DOID:0080718 Distal myopathy with rimmed vacuoles is a valid exact synonym (GNE gene), this name has been reused by OMIM for another disease, MIM:617158 (SQSTM1 gene) [LS]. GNE myopathy MESH:C536816 DOID:0080718 A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. url:https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2 url:https://pubmed.ncbi.nlm.nih.gov/29720219/ url:https://pubmed.ncbi.nlm.nih.gov/30338442/ url:https://rarediseases.org/rare-diseases/gne-myopathy/ url:https://www.genome.gov/Current-NHGRI-Clinical-Studies/GNE-Myopathy A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. GARD:9494 MIM:605637 ORDO:79091 inclusion body myopathy 3 proximal myopathy and ophthalmoplegia disease_ontology DOID:0080719 congenital myopathy 6 DOID:0080719 A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. url:https://pubmed.ncbi.nlm.nih.gov/24193343/ A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21. GARD:4732 MIM:124480 disease_ontology DOID:0080720 autosomal dominant congenital deafness with onychodystrophy DOID:0080720 A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21. url:https://pubmed.ncbi.nlm.nih.gov/28396750/ An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. MIM:126550 ORDO:85192 disease_ontology DOID:0080721 calvarial doughnut lesions with bone fragility DOID:0080721 An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483641/ A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. GARD:8367 MIM:244460 ORDO:93324 disease_ontology DOID:0080722 Kenny-Caffey syndrome type 1 DOID:0080722 A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. url:https://pubmed.ncbi.nlm.nih.gov/9806825/ A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12. GARD:83 MIM:127000 ORDO:93325 disease_ontology DOID:0080723 Kenny-Caffey syndrome type 2 MESH:C537020 DOID:0080723 A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12. url:https://pubmed.ncbi.nlm.nih.gov/23996431/ A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. MIM:PS127000 ORDO:2333 disease_ontology DOID:0080724 Kenny-Caffey syndrome DOID:0080724 A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. url:https://en.wikipedia.org/wiki/Kenny-Caffey_syndrome An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet. GARD:2336 KEGG:H02296 MESH:C537659 MIM:129200 ORDO:1658 disease_ontology DOID:0080725 BASAN syndrome DOID:0080725 An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet. url:https://pubmed.ncbi.nlm.nih.gov/8340514/ An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars. MIM:130010 disease_ontology DOID:0080726 Ehlers-Danlos syndrome classic type 2 DOID:0080726 An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars. url:https://pubmed.ncbi.nlm.nih.gov/22696272/ An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21. MIM:130060 disease_ontology DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 DOID:0080727 An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/18409203/ An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21. MIM:617821 disease_ontology DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 DOID:0080728 An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21. url:https://pubmed.ncbi.nlm.nih.gov/18409203/ An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27. MIM:614170 disease_ontology DOID:0080729 brittle cornea syndrome 2 DOID:0080729 An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27. url:https://pubmed.ncbi.nlm.nih.gov/28306229/ An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. MIM:225320 disease_ontology DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type DOID:0080730 An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. url:https://pubmed.ncbi.nlm.nih.gov/16816023/ An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21. MIM:606408 disease_ontology DOID:0080731 Ehlers-Danlos syndrome classic-like 1 DOID:0080731 An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21. url:https://pubmed.ncbi.nlm.nih.gov/28306229/ An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. MIM:618000 disease_ontology DOID:0080732 Ehlers-Danlos syndrome classic-like 2 DOID:0080732 An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. url:https://pubmed.ncbi.nlm.nih.gov/28306229/ An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. MIM:225410 disease_ontology DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type DOID:0080733 An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. url:https://pubmed.ncbi.nlm.nih.gov/28306229/ An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36. MIM:225400 disease_ontology DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 DOID:0080734 An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36. url:https://pubmed.ncbi.nlm.nih.gov/28306229/ An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15. MIM:614557 disease_ontology DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 MIM:614557 DOID:0080735 An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15. url:https://pubmed.ncbi.nlm.nih.gov/28306229/ An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14. MIM:601776 disease_ontology DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 DOID:0080736 An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14. url:https://pubmed.ncbi.nlm.nih.gov/28306229/ An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22. MIM:615539 disease_ontology DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 DOID:0080737 An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22. url:https://pubmed.ncbi.nlm.nih.gov/28306229/ An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. MIM:130070 disease_ontology DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 DOID:0080738 An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. url:https://pubmed.ncbi.nlm.nih.gov/23956117/ An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. MIM:612350 disease_ontology DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 DOID:0080739 An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. url:https://pubmed.ncbi.nlm.nih.gov/18513683/ An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease. ICD10CM:M32.11 Libmann–Sachs, Endocarditis in systemic lupus erythematosus disease_ontology DOID:0080740 Libman-Sacks endocarditis DOID:0080740 An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease. url:https://pubmed.ncbi.nlm.nih.gov/25807885/ url:https://pubmed.ncbi.nlm.nih.gov/30422459/ An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes. GARD:8742 MESH:D020363 disease_ontology DOID:0080741 limbic encephalitis DOID:0080741 An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6520067/ An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera. autoimmune cholangiopathy disease_ontology DOID:0080742 autoimmune cholangitis DOID:0080742 An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera. url:https://pubmed.ncbi.nlm.nih.gov/15560034/ url:https://pubmed.ncbi.nlm.nih.gov/25374727/ A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below. disease_ontology DOID:0080743 transverse myelitis DOID:0080743 A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below. url:https://www.mayoclinic.org/diseases-conditions/transverse-myelitis/symptoms-causes/syc-20354726 url:https://www.ninds.nih.gov/health-information/disorders/transverse-myelitis An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases. GARD:735 MESH:C537778 ORDO:81 disease_ontology DOID:0080744 antisynthetase syndrome MESH:C537778 DOID:0080744 An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases. url:https://en.wikipedia.org/wiki/Antisynthetase_syndrome url:https://pubmed.ncbi.nlm.nih.gov/27594777/ A myositis that is characterized by muscle weakness affecting both sides of your body. GARD:7425 MESH:D017285 disease_ontology DOID:0080745 polymyositis DOID:0080745 A myositis that is characterized by muscle weakness affecting both sides of your body. url:https://my.clevelandclinic.org/health/diseases/12053-polymyositis url:https://www.mayoclinic.org/diseases-conditions/polymyositis/symptoms-causes/syc-20353208 A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions. MESH:D016463 Acute Febrile Neutrophilic Dermatosis Sweet's syndrome disease_ontology DOID:0080746 Sweet syndrome DOID:0080746 A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions. url:https://pubmed.ncbi.nlm.nih.gov/17655751/ url:https://rarediseases.org/rare-diseases/sweet-syndrome/ url:https://www.ncbi.nlm.nih.gov/books/NBK431050/ An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week. MESH:D000080223 disease_ontology DOID:0080747 chronic urticaria DOID:0080747 An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week. url:https://pubmed.ncbi.nlm.nih.gov/30033911/ A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours. disease_ontology DOID:0080748 chronic inducible urticaria DOID:0080748 A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061968/ A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus. chronic idiopathic urticaria disease_ontology DOID:0080749 chronic spontaneous urticaria DOID:0080749 A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus. url:https://pubmed.ncbi.nlm.nih.gov/14501436/ url:https://pubmed.ncbi.nlm.nih.gov/28671445/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061968/ A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter. MESH:D004893 disease_ontology DOID:0080750 erythema nodosum DOID:0080750 A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter. url:https://en.wikipedia.org/wiki/Erythema_nodosum url:https://pubmed.ncbi.nlm.nih.gov/30269303/ An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. MIM:604093 disease_ontology DOID:0080751 keratosis pilaris atrophicans DOID:0080751 An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. url:https://pubmed.ncbi.nlm.nih.gov/26142438/ A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area. disease_ontology DOID:0080752 keratosis pilaris atrophicans faciei DOID:0080752 A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area. url:https://dermnetnz.org/topics/keratosis-pilaris-atrophicans-faciei/ A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma. ORDO:2340 disease_ontology DOID:0080753 keratosis follicularis spinulosa decalvans DOID:0080753 A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639957/ A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene. GARD:6829 MIM:308800 disease_ontology DOID:0080754 X-linked keratosis follicularis spinulosa decalvans DOID:0080754 A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene. url:https://pubmed.ncbi.nlm.nih.gov/18984066/ A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance. MIM:612843 disease_ontology DOID:0080755 autosomal dominant keratosis follicularis spinulosa decalvans DOID:0080755 A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance. url:https://pubmed.ncbi.nlm.nih.gov/18984066/ A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. GARD:9744 MIM:209700 ORDO:79100 disease_ontology DOID:0080756 atrophoderma vermiculata DOID:0080756 A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. url:https://pubmed.ncbi.nlm.nih.gov/19326693/ A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21. MIM:134600 disease_ontology DOID:0080757 Fanconi renotubular syndrome 1 DOID:0080757 A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21. url:https://pubmed.ncbi.nlm.nih.gov/11090339/ A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35. MIM:613388 disease_ontology DOID:0080758 Fanconi renotubular syndrome 2 DOID:0080758 A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35. url:https://ghr.nlm.nih.gov/gene/SLC34A1 url:https://pubmed.ncbi.nlm.nih.gov/26047794/ A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27. MIM:615605 disease_ontology DOID:0080759 Fanconi renotubular syndrome 3 DOID:0080759 A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27. url:https://pubmed.ncbi.nlm.nih.gov/24401050/ A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13. MIM:616026 disease_ontology DOID:0080760 Fanconi renotubular syndrome 4 DOID:0080760 A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13. url:https://pubmed.ncbi.nlm.nih.gov/24285859/ url:https://pubmed.ncbi.nlm.nih.gov/31875549/ A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22. MIM:618913 Acadian-variant Fanconi syndrome disease_ontology DOID:0080761 Fanconi renotubular syndrome 5 DOID:0080761 A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22. url:https://pubmed.ncbi.nlm.nih.gov/27466185/ An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13. MIM:617232 ORDO:480682 limb-girdle muscular dystrophy 21 disease_ontology DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z DOID:0080762 An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13. url:https://pubmed.ncbi.nlm.nih.gov/27807076/ url:https://pubmed.ncbi.nlm.nih.gov/31897643/ A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining. GARD:10334 disease_ontology DOID:0080763 diffuse gastric cancer DOID:0080763 A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining. url:https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. GARD:10900 MIM:137215 disease_ontology DOID:0080764 hereditary diffuse gastric cancer DOID:0080764 A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. url:https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer url:https://pubmed.ncbi.nlm.nih.gov/20591882/ url:https://rarediseases.info.nih.gov/diseases/10900/disease An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31. MIM:618665 autosomal recessive intellectual developmental disorder-72 autosomal recessive mental retardation 72 disease_ontology DOID:0080765 autosomal recessive intellectual developmental disorder 72 DOID:0080765 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31. url:https://pubmed.ncbi.nlm.nih.gov/29302074/ url:https://pubmed.ncbi.nlm.nih.gov/31564433/ An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. MIM:618531 disease_ontology DOID:0080766 erythrokeratodermia variabilis et progressiva 6 DOID:0080766 An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/30528822/ An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle. GARD:9519 disease_ontology DOID:0080767 autoimmune myocarditis DOID:0080767 An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5706653/ An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. GARD:9298 MESH:C536254 ORDO:3006 SNOMEDCT_US_2023_03_01:734434007 UMLS_CUI:C1849508 disease_ontology DOID:0080768 pyridoxine-dependent epilepsy UMLS_CUI:C1849508 GARD:9298 MESH:C536254 ORDO:3006 SNOMEDCT_US_2023_03_01:734434007 DOID:0080768 An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. url:https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/ url:https://rarediseases.org/rare-diseases/pyridoxine-dependent-epilepsy/ A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. early-onset vitamin B6-dependent epilepsy MIM:617290 EPEO1 PDE-PLPBP disease_ontology DOID:0080769 The broad synonym 'early-onset vitamin B6-dependent epilepsy' is included only on this disease because it was a prior label for this disease. It might now be used more broadly. early-onset vitamin B6-dependent epilepsy 1 MIM:617290 DOID:0080769 A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. url:https://pubmed.ncbi.nlm.nih.gov/27912044/ url:https://pubmed.ncbi.nlm.nih.gov/30668673/ url:https://www.ncbi.nlm.nih.gov/books/NBK589231/ EPEO1 PDE-PLPBP A beta thalassemia that has_material_basis_in one dominantly inherited mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. MIM:603902 inclusion body beta-thalassemia disease_ontology DOID:0080770 autosomal dominant beta thalassemia DOID:0080770 A beta thalassemia that has_material_basis_in one dominantly inherited mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. url:https://pubmed.ncbi.nlm.nih.gov/1971109/ A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age. MIM:187550 NCI:C129699 ORDO:231214 Cooley's anemia disease_ontology DOID:0080771 beta-thalassemia major DOID:0080771 A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age. url:https://ghr.nlm.nih.gov/condition/beta-thalassemia url:https://pubmed.ncbi.nlm.nih.gov/12480689/ url:https://www.ncbi.nlm.nih.gov/pubmed/19258591 A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life. ORDO:231222 disease_ontology DOID:0080772 beta-thalassemia intermedia DOID:0080772 A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life. url:https://ghr.nlm.nih.gov/condition/beta-thalassemia A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. NCI:C172823 ORDO:231237 disease_ontology DOID:0080773 delta beta-thalassemia DOID:0080773 A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. url:https://pubmed.ncbi.nlm.nih.gov/30706898/ url:https://pubmed.ncbi.nlm.nih.gov/31444804/ A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia. MIM:187550 disease_ontology DOID:0080774 thalassemia minor DOID:0080774 A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia. url:https://ghr.nlm.nih.gov/condition/beta-thalassemia#inheritance An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus. ICD10CM:E34.51 MESH:D013734 NCI:C120191 ORDO:99429 SNOMEDCT_US_2023_03_01:267486007 UMLS_CUI:C0936016 disease_ontology DOID:0080775 complete androgen insensitivity syndrome DOID:0080775 An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus. url:https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. GARD:5692 MIM:312300 ORDO:90797 Reifenstein syndrome disease_ontology DOID:0080776 partial androgen insensitivity syndrome DOID:0080776 An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. url:https://pubmed.ncbi.nlm.nih.gov/26303084/ A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. NCI:C45540 Sarcomatoid carcinoma of the lung pulmonary sarcomatoid carcinoma disease_ontology DOID:0080777 lung sarcomatoid carcinoma DOID:0080777 A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C45540 url:https://pubmed.ncbi.nlm.nih.gov/28081478/ A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13. GARD:10593 MIM:613070 ORDO:217371 disease_ontology DOID:0080778 transient infantile liver failure DOID:0080778 A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13. url:https://pubmed.ncbi.nlm.nih.gov/19732863/ url:https://pubmed.ncbi.nlm.nih.gov/21931168/ url:https://pubmed.ncbi.nlm.nih.gov/27689697/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045200/ A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. ICDO:9735/3 MESH:D000069293 NCI:C7224 disease_ontology DOID:0080779 plasmablastic lymphoma DOID:0080779 A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467349/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430862/ An acute myeloid leukemia that is characterized by a predominant immature erythroid population. ICDO:9840/3 NCI:C8923 disease_ontology DOID:0080780 acute erythroid leukemia DOID:0080780 An acute myeloid leukemia that is characterized by a predominant immature erythroid population. url:https://en.wikipedia.org/wiki/Acute_erythroid_leukemia An endocrine organ benign neoplasm arising from the exocrine pancreas. NCI:C4613 disease_ontology DOID:0080781 benign exocrine pancreas neoplasm DOID:0080781 An endocrine organ benign neoplasm arising from the exocrine pancreas. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4613 A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. disease_ontology DOID:0080782 mucinous pancreas adenocarcinoma DOID:0080782 A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. url:https://www.nature.com/articles/s41598-018-24540-7 disease_ontology DOID:0080783 obsolete X-linked sensorineural deafness true DOID:0080783 An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra. ICD10CM:N39.0 MESH:D014552 UTI disease_ontology DOID:0080784 urinary tract infection MESH:D014552 DOID:0080784 An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra. url:https://medlineplus.gov/urinarytractinfections.html url:https://www.cdc.gov/antibiotic-use/community/for-patients/common-illnesses/uti.html url:https://www.mayoclinic.org/diseases-conditions/urinary-tract-infection/symptoms-causes/syc-20353447 UTI A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. MIM:211530 disease_ontology DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 DOID:0080785 A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. url:https://pubmed.ncbi.nlm.nih.gov/20206331/ A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24. MIM:614707 disease_ontology DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 DOID:0080786 A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24. url:https://pubmed.ncbi.nlm.nih.gov/20206331/ A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. MIM:185800 disease_ontology DOID:0080787 proximal symphalangism 1 DOID:0080787 A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. url:https://pubmed.ncbi.nlm.nih.gov/16353259/ A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. MIM:615298 disease_ontology DOID:0080788 proximal symphalangism 2 DOID:0080788 A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. url:https://pubmed.ncbi.nlm.nih.gov/16892395/ A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32. MIM:154500 disease_ontology DOID:0080789 Treacher Collins syndrome 1 DOID:0080789 A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32. url:https://pubmed.ncbi.nlm.nih.gov/15340364/ A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12. MIM:613717 disease_ontology DOID:0080790 Treacher Collins syndrome 2 DOID:0080790 A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12. url:https://pubmed.ncbi.nlm.nih.gov/25790162/ A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21. MIM:248390 disease_ontology DOID:0080791 Treacher Collins syndrome 3 DOID:0080791 A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21. url:https://pubmed.ncbi.nlm.nih.gov/11013442/ A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14. MIM:618939 disease_ontology DOID:0080792 Treacher Collins syndrome 4 DOID:0080792 A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14. url:https://pubmed.ncbi.nlm.nih.gov/31649276/ An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. NCI:C7972 pediatric non-Down syndrome acute megakaryoblastic leukemia disease_ontology DOID:0080794 childhood acute megakaryoblastic leukemia DOID:0080794 An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. url:https://pubmed.ncbi.nlm.nih.gov/28867167/ url:https://www.nature.com/articles/ng.3772 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7309653/ An acute myeloid leukemia that is characterized by primary differentiation to basophils. ICDO:9870/3 NCI:C3164 disease_ontology DOID:0080795 acute basophilic leukemia DOID:0080795 An acute myeloid leukemia that is characterized by primary differentiation to basophils. url:http://www.pathologyoutlines.com/topic/leukemiabasophil.html url:https://en.wikipedia.org/wiki/Acute_basophilic_leukemia An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. NCI:C122688 disease_ontology DOID:0080796 core binding factor acute myeloid leukemia DOID:0080796 An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. url:https://pubmed.ncbi.nlm.nih.gov/26980726/ A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. ICDO:9719/3 NCI:C4684 disease_ontology DOID:0080797 nasal type extranodal NK/T-cell lymphoma DOID:0080797 A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. url:https://pubmed.ncbi.nlm.nih.gov/29602763/ An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. ICDO:9898/3 NCI:C43223 disease_ontology DOID:0080798 myeloid leukemia associated with Down Syndrome DOID:0080798 An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. url:https://pubmed.ncbi.nlm.nih.gov/26910243/ url:https://pubmed.ncbi.nlm.nih.gov/31606922/ A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells. MESH:C537344 NCI:C54294 disease_ontology DOID:0080799 sinonasal undifferentiated carcinoma DOID:0080799 A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells. url:https://pubmed.ncbi.nlm.nih.gov/30806835/ A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found. NCI:C62193 disease_ontology DOID:0080800 salivary gland mucinous adenocarcinoma DOID:0080800 A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found. url:https://pubmed.ncbi.nlm.nih.gov/26908552/ A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15. MIM:123000 disease_ontology DOID:0080801 autosomal dominant craniometaphyseal dysplasia DOID:0080801 A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15. url:https://pubmed.ncbi.nlm.nih.gov/9382103/ A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22. MIM:218400 disease_ontology DOID:0080802 autosomal recessive craniometaphyseal dysplasia DOID:0080802 A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22. url:https://pubmed.ncbi.nlm.nih.gov/9382103/ A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21. MIM:218330 disease_ontology DOID:0080803 cranioectodermal dysplasia 1 DOID:0080803 A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21. url:https://pubmed.ncbi.nlm.nih.gov/517478/ A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24. MIM:613610 disease_ontology DOID:0080804 cranioectodermal dysplasia 2 DOID:0080804 A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24. url:https://pubmed.ncbi.nlm.nih.gov/21378380/ A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. MIM:614099 disease_ontology DOID:0080805 cranioectodermal dysplasia 3 DOID:0080805 A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. url:https://pubmed.ncbi.nlm.nih.gov/21378380/ A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14. MIM:614378 disease_ontology DOID:0080806 cranioectodermal dysplasia 4 DOID:0080806 A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14. url:https://pubmed.ncbi.nlm.nih.gov/21378380/ A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21. MIM:122860 disease_ontology DOID:0080807 autosomal dominant craniodiaphyseal dysplasia DOID:0080807 A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/21221996/ A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene. MESH:D000069295 disease_ontology DOID:0080808 mammary analogue secretory carcinoma DOID:0080808 A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene. url:http://www.pathologyoutlines.com/topic/salivaryglandsmammary.html url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643951/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113190/ An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency. disease_ontology DOID:0080809 chronic asthma DOID:0080809 An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency. url:https://www.ncbi.nlm.nih.gov/books/NBK7223/ url:https://www.nhlbi.nih.gov/health/asthma An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment. disease_ontology DOID:0080810 acute asthma DOID:0080810 An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment. url:https://pubmed.ncbi.nlm.nih.gov/27554811/ A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies. atopic asthma disease_ontology DOID:0080811 extrinsic asthma DOID:0080811 A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099102/ A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity. disease_ontology DOID:0080812 intermittent asthma DOID:0080812 A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity. url:https://www.aafp.org/afp/2009/0501/p761.html A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity. disease_ontology DOID:0080813 persistent mild asthma DOID:0080813 A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity. url:https://www.aafp.org/afp/2009/0501/p761.html A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity. disease_ontology DOID:0080814 persistent moderate asthma DOID:0080814 A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity. url:https://www.aafp.org/afp/2009/0501/p761.html A chronic asthma that is characterized by first presentation in early childhood. childhood asthma disease_ontology DOID:0080815 childhood-onset asthma DOID:0080815 A chronic asthma that is characterized by first presentation in early childhood. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603154/ A chronic asthma that is characterized by first presentation in adulthood. disease_ontology DOID:0080816 adult-onset severe asthma DOID:0080816 A chronic asthma that is characterized by first presentation in adulthood. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603154/ A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease. type 2 high endotype disease_ontology DOID:0080817 T2-high asthma DOID:0080817 A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease. url:https://pubmed.ncbi.nlm.nih.gov/21281866/ A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy. type 2 low endotype disease_ontology DOID:0080818 T2-low asthma DOID:0080818 A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy. url:https://pubmed.ncbi.nlm.nih.gov/21281866/ An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter. irritant asthma disease_ontology DOID:0080819 environmental induced asthma DOID:0080819 An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter. url:https://www.ncbi.nlm.nih.gov/books/NBK526018/ An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace. disease_ontology DOID:0080820 occupational asthma DOID:0080820 An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace. url:https://medlineplus.gov/ency/article/000110.htm url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/asthma/occupational-asthma An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise. exercise-induced asthma disease_ontology DOID:0080821 exercise-induced bronchoconstriction DOID:0080821 An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise. url:https://pubmed.ncbi.nlm.nih.gov/29631730/ An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs. aspirin-sensitive asthma disease_ontology DOID:0080822 aspirin-induced respiratory disease DOID:0080822 An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs. url:https://pubmed.ncbi.nlm.nih.gov/11028656/ An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation. disease_ontology DOID:0080823 near-fatal asthma DOID:0080823 An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation. url:https://pubmed.ncbi.nlm.nih.gov/27425166/ A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity. disease_ontology DOID:0080824 persistent severe asthma DOID:0080824 A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity. url:https://www.aafp.org/afp/2009/0501/p761.html An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen. thunderstorm asthma thunderstorm related asthma disease_ontology DOID:0080825 thunderstorm triggered asthma DOID:0080825 An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen. url:https://pubmed.ncbi.nlm.nih.gov/29413334/ url:https://pubmed.ncbi.nlm.nih.gov/29880151/ url:https://pubmed.ncbi.nlm.nih.gov/31190900/ A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways. disease_ontology DOID:0080826 nocturnal asthma DOID:0080826 A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways. url:https://pubmed.ncbi.nlm.nih.gov/17571537/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197640/ A viral infectious disease that has_material_basis_in Human betaherpesvirus 5 (Cytomegalovirus humanbeta5). ICD10CM:B25 ICD9CM:078.5 MESH:D003586 NCI:C53649 SNOMEDCT_US_2025_05_01:28944009 UMLS_CUI:C0010823 disease_ontology DOID:0080827 human cytomegalovirus infection ICD10CM:B25.9 DOID:0080827 A viral infectious disease that has_material_basis_in Human betaherpesvirus 5 (Cytomegalovirus humanbeta5). url:https://pubmed.ncbi.nlm.nih.gov/25205255/ url:https://www.ncbi.nlm.nih.gov/books/NBK459185/ A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11. MIM:301054 ORDO:596753 vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome disease_ontology DOID:0080828 VEXAS syndrome DOID:0080828 A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11. url:https://www.nejm.org/doi/full/10.1056/NEJMoa2026834 url:https://www.nih.gov/news-events/news-releases/scientists-use-clues-human-genome-discover-new-inflammatory-syndrome A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes). DOID:0060101 NCI:C132067 benign glioma disease_ontology DOID:0080829 low grade glioma DOID:0080829 A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes). url:http://www.danafarberbostonchildrens.org/conditions/brain-tumor/low-grade-glioma.aspx url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/glioma url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361022/ A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology. pediatric low-grade glioma disease_ontology DOID:0080830 childhood low-grade glioma DOID:0080830 A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology. url:https://pubmed.ncbi.nlm.nih.gov/23583981/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917804/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786244/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7066826/ A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints. disease_ontology DOID:0080831 subjective cognitive decline DOID:0080831 A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints. url:https://pubmed.ncbi.nlm.nih.gov/24798886/ A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living. disease_ontology DOID:0080832 mild cognitive impairment DOID:0080832 A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living. url:https://pubmed.ncbi.nlm.nih.gov/29282327/ A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. GARD:6865 ICD10CM:Q31.5 MIM:150280 ORDO:2373 SNOMEDCT_US_2023_03_01:253737007 UMLS_CUI:C0345160 congenital laryngomalacia disease_ontology DOID:0080833 laryngomalacia MESH:D055092 DOID:0080833 A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. url:https://www.childrenshospital.org/conditions-and-treatments/conditions/l/laryngomalacia url:https://www.childrenshospitalvanderbilt.org/medical-conditions/laryngomalacia A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures. disease_ontology DOID:0080834 acquired laryngomalacia DOID:0080834 A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures. url:https://pubmed.ncbi.nlm.nih.gov/24615649/ A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms. GARD:7781 disease_ontology DOID:0080835 TORCH syndrome DOID:0080835 A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms. url:https://pubmed.ncbi.nlm.nih.gov/32317443/ url:https://pubmed.ncbi.nlm.nih.gov/32734340/ url:https://rarediseases.org/rare-diseases/torch-syndrome/ url:https://www.childrenshospital.org/conditions-and-treatments/conditions/t/torch A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21. GARD:3924 MIM:245590 ORDO:220465 disease_ontology DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 DOID:0080836 A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/16787985/ A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21. MIM:618985 disease_ontology DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 DOID:0080837 A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/29844444/ An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27. MIM:301052 disease_ontology DOID:0080839 X-linked warfarin sensitivity DOID:0080839 An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27. url:https://pubmed.ncbi.nlm.nih.gov/29450643/ An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11. MIM:618977 disease_ontology DOID:0080840 optic atrophy 12 DOID:0080840 An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11. url:https://pubmed.ncbi.nlm.nih.gov/32219868/ An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily. disease_ontology DOID:0080841 pemphigoid DOID:0080841 An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily. url:https://rarediseases.org/rare-diseases/pemphigus/ A meningioma that arises within the cranial cavity. MESH:D008579 NCI:C4656 SNOMEDCT_US_2023_03_01:302820008 UMLS_CUI:C0349604 disease_ontology DOID:0080842 intracranial meningioma DOID:0080842 A meningioma that arises within the cranial cavity. url:https://pubmed.ncbi.nlm.nih.gov/17961033/ A meningioma that affects the supratentorial brain. NCI:C6971 UMLS_CUI:C1334698 disease_ontology DOID:0080843 supratentorial meningioma DOID:0080843 A meningioma that affects the supratentorial brain. url:https://pubmed.ncbi.nlm.nih.gov/26636386/ An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32. MESH:C537746 MIM:258315 ORDO:93329 SNOMEDCT_US_2023_03_01:725166005 UMLS_CUI:C1850318 disease_ontology DOID:0080844 omodysplasia 1 DOID:0080844 An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32. url:https://pubmed.ncbi.nlm.nih.gov/17823719/ An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21. MESH:C567664 MIM:164745 SNOMEDCT_US_2023_03_01:725165009 UMLS_CUI:C2750355 disease_ontology DOID:0080845 omodysplasia 2 DOID:0080845 An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/25759469/ A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus. MESH:D000071698 LADA type 1.5 diabetes disease_ontology DOID:0080846 latent autoimmune diabetes in adults MESH:D000071698 DOID:0080846 A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus. url:https://pubmed.ncbi.nlm.nih.gov/29947172/ url:https://pubmed.ncbi.nlm.nih.gov/30565440/ LADA A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia. PASC chronic COVID-19 post-COVID syndrome post-acute sequelae of SARS-CoV-2 infection disease_ontology DOID:0080848 long COVID DOID:0080848 A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia. url:https://www.bmj.com/content/371/bmj.m4470 url:https://www.medrxiv.org/content/10.1101/2020.10.07.20208249v1 url:https://www.medrxiv.org/content/10.1101/2020.10.07.20208702v1 url:https://www.medrxiv.org/content/10.1101/2020.10.13.20211854v1 url:https://www.nature.com/articles/d41586-020-02796-2 PASC An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements. GARD:16 MIM:257550 ORDO:1404 disease_ontology DOID:0080849 ocular motor apraxia, Cogan type DOID:0080849 An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements. url:https://en.wikipedia.org/wiki/Oculomotor_apraxia url:https://eyewiki.aao.org/Oculomotor_Apraxia url:https://rarediseases.org/rare-diseases/ocular-motor-apraxia-cogan-type/ A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin. GARD:7354 ICD10CM:L10.2 MESH:D010392 ORDO:79481 SNOMEDCT_US_2023_03_01:35154004 UMLS_CUI:C0263313 pemphigus foliaceous disease_ontology DOID:0080850 pemphigus foliaceus DOID:0080850 A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin. url:https://dermnetnz.org/topics/pemphigus-foliaceus/ A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to cell adherence. SNOMEDCT_US_2023_03_01:402717008 UMLS_CUI:C1274167 disease_ontology DOID:0080851 IgA pemphigus DOID:0080851 A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to cell adherence. url:https://www.ncbi.nlm.nih.gov/books/NBK519063/ A pemphigus that is characterized by painful blisters and denuded areas of the mouth, lips, oesophagus and skin. ICD10CM:L10.81 UMLS_CUI:C1112570 disease_ontology DOID:0080852 paraneoplastic pemphigus DOID:0080852 A pemphigus that is characterized by painful blisters and denuded areas of the mouth, lips, oesophagus and skin. url:https://dermnetnz.org/topics/paraneoplastic-pemphigus/ url:https://en.wikipedia.org/wiki/Paraneoplastic_pemphigus A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields. NCI:C129327 disease_ontology DOID:0080854 anaplastic pleomorphic xanthoastrocytoma DOID:0080854 A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields. url:https://www.hindawi.com/journals/crinm/2018/6428492/ A movement disorder that is characterized by disturbances of balance, gait and posture. disease_ontology DOID:0080855 Parkinsonism DOID:0080855 A movement disorder that is characterized by disturbances of balance, gait and posture. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578144/ A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin. disease_ontology DOID:0080856 vascular Parkinsonism DOID:0080856 A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327701/ A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28). GARD:4480 MIM:311360 FMR1-related primary ovarian insufficiency Fragile X-associated primary ovarian insufficiency premature ovarian failure 1 disease_ontology DOID:0080857 primary ovarian insufficiency 1 DOID:0080857 A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28). url:https://pubmed.ncbi.nlm.nih.gov/27861765/ A primary ovarian insufficiency that has_material_basis_in mutation in the DIAPH2 gene on chromosome Xq22. MIM:300511 disease_ontology DOID:0080858 primary ovarian insufficiency 2A DOID:0080858 A primary ovarian insufficiency that has_material_basis_in mutation in the DIAPH2 gene on chromosome Xq22. url:https://pubmed.ncbi.nlm.nih.gov/9497258/ A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene. MIM:300604 disease_ontology DOID:0080859 primary ovarian insufficiency 2B DOID:0080859 A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene. url:https://pubmed.ncbi.nlm.nih.gov/16773570/ A primary ovarian insufficiency characterized by the cessation of ovarian function before the age of 40 years, with amenorrhea, hypoestrogenism, and elevated serum gonadotropin concentrations that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22. MIM:608996 disease_ontology DOID:0080860 primary ovarian insufficiency 3 DOID:0080860 A primary ovarian insufficiency characterized by the cessation of ovarian function before the age of 40 years, with amenorrhea, hypoestrogenism, and elevated serum gonadotropin concentrations that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22. url:https://pubmed.ncbi.nlm.nih.gov/12149404/ A primary ovarian insufficiency that has_material_basis_in caused by mutation in the BMP15 gene on chromosome Xp11. MIM:300510 disease_ontology DOID:0080861 primary ovarian insufficiency 4 DOID:0080861 A primary ovarian insufficiency that has_material_basis_in caused by mutation in the BMP15 gene on chromosome Xp11. url:https://pubmed.ncbi.nlm.nih.gov/12836721/ A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35. MIM:611548 disease_ontology DOID:0080862 primary ovarian insufficiency 5 DOID:0080862 A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35. url:https://pubmed.ncbi.nlm.nih.gov/17701902/ A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13. MIM:612310 disease_ontology DOID:0080863 primary ovarian insufficiency 6 DOID:0080863 A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13. url:https://pubmed.ncbi.nlm.nih.gov/18499083/ A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. MIM:612964 disease_ontology DOID:0080864 primary ovarian insufficiency 7 DOID:0080864 A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. url:https://pubmed.ncbi.nlm.nih.gov/26523528/ A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22. MIM:615723 disease_ontology DOID:0080865 primary ovarian insufficiency 8 DOID:0080865 A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22. url:https://pubmed.ncbi.nlm.nih.gov/24597867/ A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22. MIM:615724 disease_ontology DOID:0080866 primary ovarian insufficiency 9 DOID:0080866 A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22. url:https://pubmed.ncbi.nlm.nih.gov/24597873/ A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p. MIM:612885 disease_ontology DOID:0080867 primary ovarian insufficiency 10 DOID:0080867 A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p. url:https://pubmed.ncbi.nlm.nih.gov/25873734/ A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11. MIM:616946 disease_ontology DOID:0080868 primary ovarian insufficiency 11 DOID:0080868 A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11. url:https://pubmed.ncbi.nlm.nih.gov/26218421/ A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26. MIM:616947 disease_ontology DOID:0080869 primary ovarian insufficiency 12 MIM:616947 DOID:0080869 A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26. url:https://pubmed.ncbi.nlm.nih.gov/25062452/ A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21. MIM:617442 disease_ontology DOID:0080870 primary ovarian insufficiency 13 DOID:0080870 A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21. url:https://pubmed.ncbi.nlm.nih.gov/28175301/ A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31. MIM:618014 disease_ontology DOID:0080871 primary ovarian insufficiency 14 DOID:0080871 A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31. url:https://pubmed.ncbi.nlm.nih.gov/29044499/ A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the FANCM gene on chromosome 14q21. MIM:618096 disease_ontology DOID:0080872 primary ovarian insufficiency 15 DOID:0080872 A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the FANCM gene on chromosome 14q21. url:https://pubmed.ncbi.nlm.nih.gov/29231814/ A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25. MIM:618723 disease_ontology DOID:0080873 primary ovarian insufficiency 16 DOID:0080873 A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25. url:https://pubmed.ncbi.nlm.nih.gov/30010909/ A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. MIM:619146 disease_ontology DOID:0080874 primary ovarian insufficiency 17 DOID:0080874 A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. url:https://pubmed.ncbi.nlm.nih.gov/30489636/ An anaplastic astrocytoma carrying IDH mutations. NCI:C185167 disease_ontology DOID:0080875 IDH-mutant anaplastic astrocytoma DOID:0080875 An anaplastic astrocytoma carrying IDH mutations. url:https://www.pathologyoutlines.com/topic/anaastroidhmutant.html An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes. ICDO:9401/3 NCI:C129291 disease_ontology DOID:0080876 IDH-wildtype anaplastic astrocytoma DOID:0080876 An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes. url:https://www.pathologyoutlines.com/topic/cnstumoranaastroIDHwild.html An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. ICDO:9445/3 NCI:C167335 disease_ontology DOID:0080877 The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas, removed previous name glioblastoma, IDH-mutant. astrocytoma, IDH-mutant, grade 4 DOID:0080877 An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. url:https://pubmed.ncbi.nlm.nih.gov/33692446/ A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes. ICDO:9440/3 NCI:C39750 disease_ontology DOID:0080878 IDH-wildtype glioblastoma DOID:0080878 A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes. url:https://www.pathologyoutlines.com/topic/cnstumortumorglioIDHwild.html A high grade glioma that has_material_basis_in mutations in the genes encoding histones. histone mutated tumour disease_ontology DOID:0080879 histone mutated tumor DOID:0080879 A high grade glioma that has_material_basis_in mutations in the genes encoding histones. url:https://www.annualreviews.org/doi/abs/10.1146/annurev-cancerbio-030617-050143 A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. ICDO:9385/3 NCI:C185371 disease_ontology DOID:0080880 diffuse glioma, H3 G34 mutant DOID:0080880 A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. url:https://pubmed.ncbi.nlm.nih.gov/30358620/ An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. disease_ontology DOID:0080881 pleomorphic xanthoastrocytoma BRAF mutant DOID:0080881 An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. url:https://www.futuremedicine.com/doi/10.2217/cns-2019-0009 An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). NCI:C129321 Oligodendroglioma, IDH-mutant and 1p/19q-codeleted anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted disease_ontology DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma DOID:0080882 An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). url:https://www.nature.com/articles/s41598-020-68733-5 url:https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia. ICD10CM:E55.0 ICD9CM:268.0 SNOMEDCT_US_2023_03_01:68295002 UMLS_CUI:C0221468 disease_ontology DOID:0080883 vitamin D-dependent rickets DOID:0080883 A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia. url:https://medlineplus.gov/genetics/condition/vitamin-d-dependent-rickets A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. MIM:277440 ORDO:93160 disease_ontology DOID:0080884 vitamin D-dependent rickets type 2A DOID:0080884 A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. url:https://pubmed.ncbi.nlm.nih.gov/27705794/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. MIM:600785 ORDO:93160 disease_ontology DOID:0080885 vitamin D-dependent rickets type 2B DOID:0080885 A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13. MIM:264700 ORDO:289157 disease_ontology DOID:0080886 vitamin D-dependent rickets type 1A DOID:0080886 A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/27705794/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15. MIM:600081 ORDO:289157 disease_ontology DOID:0080887 vitamin D-dependent rickets type 1B DOID:0080887 A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15. url:https://pubmed.ncbi.nlm.nih.gov/26365513/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ A spinal cord ependymoma that is characterized by MYCN amplification. ICDO:9396/3 NCI:C186494 Spinal Cord Ependymoma, MYCN Amplified spinal ependymoma, MYCN disease_ontology DOID:0080888 spinal ependymoma, MYCN-amplified DOID:0080888 A spinal cord ependymoma that is characterized by MYCN amplification. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851394/ A high grade ependymoma that is located within the posterior fossa. ICDO:9391/3 disease_ontology DOID:0080889 posterior fossa ependymoma DOID:0080889 A high grade ependymoma that is located within the posterior fossa. url:https://pubmed.ncbi.nlm.nih.gov/26351223/ url:https://pubmed.ncbi.nlm.nih.gov/32502305/ A high grade ependymoma that is located within the supratentorial brain. ICDO:9391/3 disease_ontology DOID:0080890 supratentorial ependymoma DOID:0080890 A high grade ependymoma that is located within the supratentorial brain. url:https://pubmed.ncbi.nlm.nih.gov/27858204/ A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion. disease_ontology DOID:0080891 YAP1-MAMLD1 fusion-positive supratentorial ependymoma DOID:0080891 A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion. url:https://www.nature.com/articles/s41467-019-11884-5 A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene. ICDO:9396/3 NCI:C129351 ORDO:530792 C11orf95 fusion-positive supratentorial ependymoma Supratentorial C11ORF95-RELA fused ependymoma disease_ontology DOID:0080892 RELA fusion-positive ependymoma DOID:0080892 A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene. url:https://www.pathologyoutlines.com/topic/cnstumorependymomarelafusion.html A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12. GARD:13259 MIM:615485 ORDO:352577 ASXL3-related disorder disease_ontology DOID:0080893 Bainbridge-Ropers syndrome DOID:0080893 A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12. url:https://pubmed.ncbi.nlm.nih.gov/23383720/ url:https://pubmed.ncbi.nlm.nih.gov/23672984/ url:https://pubmed.ncbi.nlm.nih.gov/27901041/ url:https://pubmed.ncbi.nlm.nih.gov/32132929/ url:https://www.ncbi.nlm.nih.gov/books/NBK563693/ A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion. disease_ontology DOID:0080894 lipofibromatosis-like neural tumor DOID:0080894 A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion. url:https://clinicalsarcomaresearch.biomedcentral.com/articles/10.1186/s13569-020-00136-6 url:https://pubmed.ncbi.nlm.nih.gov/27259011/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993549/ A hemangioma that is characterized by complete regression. NCI:C172207 ORDO:141184 disease_ontology DOID:0080895 rapidly involuting congenital hemangioma DOID:0080895 A hemangioma that is characterized by complete regression. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786408/ A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion. disease_ontology DOID:0080896 pericytoma with t(7;12) DOID:0080896 A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion. url:http://atlasgeneticsoncology.org/Tumors/Pericytomt0712ID5192.html url:https://pubmed.ncbi.nlm.nih.gov/30085941/ A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. ICDO:8815/1 ORDO:2126 disease_ontology DOID:0080897 solitary fibrous tumor/hemangiopericytoma DOID:0080897 A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. url:https://pubmed.ncbi.nlm.nih.gov/29521591/ url:https://thejns.org/view/journals/j-neurosurg/130/2/article-p418.xml url:https://www.sciencedirect.com/science/article/pii/S221475191830183X A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32. MIM:616202 ORDO:444072 cerebellar-facial-dental syndrome disease_ontology DOID:0080898 cerebellofaciodental syndrome DOID:0080898 A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32. url:https://pubmed.ncbi.nlm.nih.gov/27748960 url:https://pubmed.ncbi.nlm.nih.gov/32896090/ A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung. NCI:C45542 disease_ontology DOID:0080899 lung pleomorphic carcinoma DOID:0080899 A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung. url:https://pubmed.ncbi.nlm.nih.gov/31355240/ A rhabdomyosarcoma located in the oral cavity. disease_ontology DOID:0080900 oral rhabdomyosarcoma DOID:0080900 A rhabdomyosarcoma located in the oral cavity. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892211/ A sarcomatoid transitional cell carcinoma that is located_in the bladder. disease_ontology DOID:0080901 bladder sarcomatoid transitional cell carcinoma DOID:0080901 A sarcomatoid transitional cell carcinoma that is located_in the bladder. url:https://pubmed.ncbi.nlm.nih.gov/30287139/ A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells. disease_ontology DOID:0080902 bladder small cell carcinoma DOID:0080902 A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells. url:https://pubmed.ncbi.nlm.nih.gov/29763719/ An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42). DOID:4794 MESH:D018242 NCI:C4915 SNOMEDCT_US_2023_03_01:253070006 UMLS_CUI:C0700367 ependymoblastoma disease_ontology DOID:0080903 embryonal tumor with multilayered rosettes, C19MC-altered DOID:0080903 An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42). url:https://radiopaedia.org/articles/embryonal-tumours-with-multilayered-rosettes-etmr?lang=us url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/ An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q. ICDO:9430/3 UMLS_CUI:C5708128 UMLS_CUI:C5708129 CNS high-grade neuroepithelial tumors with MN1 alteration disease_ontology DOID:0080904 astroblastoma, MN1-altered DOID:0080904 An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q. url:https://pubmed.ncbi.nlm.nih.gov/31111274/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843525/ A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres. NCI:C4826 disease_ontology DOID:0080905 central nervous system neuroblastoma DOID:0080905 A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres. url:https://pubmed.ncbi.nlm.nih.gov/29520437/ A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo. ICDO:9500/3 UMLS_CUI:C5670625 CNS NB-FOXR2 CNS neuroblastoma, FOXR2-activated central nervous system neuroblastoma with FOXR2 activation disease_ontology DOID:0080906 CNS neuroblastoma with FOXR2 activation DOID:0080906 A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo. url:https://link.springer.com/article/10.1007%2Fs10014-020-00370-2 url:https://www.ncbi.nlm.nih.gov/articles/PMC7350623/ CNS NB-FOXR2 A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11. GARD:1415 MIM:216400 ORDO:90321 Cockayne syndrome type 1 Cockayne syndrome type I disease_ontology DOID:0080907 Cockayne syndrome A DOID:0080907 A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11. url:https://medlineplus.gov/genetics/condition/cockayne-syndrome/ A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11. GARD:1420 MIM:133540 ORDO:90322 Cockayne syndrome 2 Cockayne syndrome type II disease_ontology DOID:0080908 Cockayne syndrome B DOID:0080908 A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11. url:https://www.ncbi.nlm.nih.gov/books/NBK1342/ A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production. MESH:D064129 NCI:C130234 disease_ontology DOID:0080909 castration-resistant prostate carcinoma MESH:D064129 DOID:0080909 A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production. url:https://pubmed.ncbi.nlm.nih.gov/30324351/ A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis. GARD:6027 MIM:PS214150 disease_ontology DOID:0080910 cerebrooculofacioskeletal syndrome DOID:0080910 A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis. url:https://www.ncbi.nlm.nih.gov/books/NBK1342/ A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. MIM:214150 disease_ontology DOID:0080911 cerebrooculofacioskeletal syndrome 1 DOID:0080911 A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. url:https://pubmed.ncbi.nlm.nih.gov/20456449/ A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. MESH:C565185 MIM:610756 disease_ontology DOID:0080912 cerebrooculofacioskeletal syndrome 2 DOID:0080912 A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/11443545/ A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33. MESH:C565035 MIM:616570 disease_ontology DOID:0080913 cerebrooculofacioskeletal syndrome 3 DOID:0080913 A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33. url:https://pubmed.ncbi.nlm.nih.gov/24700531/ A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13. MESH:C565184 MIM:610758 disease_ontology DOID:0080914 cerebrooculofacioskeletal syndrome 4 DOID:0080914 A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/23623389/ A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. ICDO:9755/3 MESH:D054747 NCI:C27349 disease_ontology DOID:0080915 histiocytic sarcoma MESH:D054747 DOID:0080915 A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520642/ An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. NCI:C7152 disease_ontology DOID:0080916 erythroleukemia DOID:0080916 An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857409/ An amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS. EFO:0001357 disease_ontology DOID:0080917 sporadic amyotrophic lateral sclerosis DOID:0080917 An amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS. url:https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/amyotrophic-lateral-sclerosis/types/sporadic-amyotrophic-lateral-sclerosis.html A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri). MESH:D065706 NCI:C116936 disease_ontology DOID:0080918 polymicrogyria DOID:0080918 A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri). url:https://pubmed.ncbi.nlm.nih.gov/10489031/ url:https://www.ncbi.nlm.nih.gov/books/NBK1329/ A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement. ORDO:268947 disease_ontology DOID:0080919 unilateral focal polymicrogyria DOID:0080919 A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement. url:https://www.ncbi.nlm.nih.gov/books/NBK1329/ A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain. disease_ontology DOID:0080920 bilateral generalized polymicrogyria DOID:0080920 A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain. url:https://www.ncbi.nlm.nih.gov/books/NBK1329/ A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. GARD:10783 ORDO:208444 disease_ontology DOID:0080921 bilateral frontal polymicrogyria DOID:0080921 A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. url:https://en.wikipedia.org/wiki/Polymicrogyria#Unilateral_polymicrogyria url:https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria A polymicrogyria that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21. GARD:10784 MIM:606854 NCI:C148367 CDCBM14A complex cortical dysplasia with other brain malformations 14A disease_ontology DOID:0080922 bilateral frontoparietal polymicrogyria DOID:0080922 A polymicrogyria that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21. url:https://pubmed.ncbi.nlm.nih.gov/34863467/ CDCBM14A A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21. GARD:10785 MIM:612691 ORDO:208441 bilateral temporooccipital polymicrogyria disease_ontology DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria DOID:0080923 A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21. url:https://pubmed.ncbi.nlm.nih.gov/10690985/ url:https://pubmed.ncbi.nlm.nih.gov/9005867/ A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21. GARD:6011 MIM:615752 ORDO:98889 disease_ontology DOID:0080924 bilateral perisylvian polymicrogyria DOID:0080924 A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21. url:https://pubmed.ncbi.nlm.nih.gov/24531968/ A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2. GARD:12664 MIM:613571 NCI:C131302 disease_ontology DOID:0080925 cytochrome P450 oxidoreductase deficiency DOID:0080925 A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2. url:https://www.ncbi.nlm.nih.gov/books/NBK1419/ A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7. GARD:12076 MIM:609757 ORDO:96121 7q11.23 microduplication syndrome William-Beuren region duplication syndrome chromosome 7q11.23 duplication syndrome disease_ontology DOID:0080926 7q11.23 duplication syndrome DOID:0080926 A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7. url:https://medlineplus.gov/genetics/condition/7q1123-duplication-syndrome/ url:https://www.ncbi.nlm.nih.gov/books/NBK327268/ An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. ORDO:439232 AApoAIV amyloidosis renal AApoAIV amyloidosis disease_ontology DOID:0080927 apolipoprotein A-IV associated amyloidosis DOID:0080927 An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. url:https://pubmed.ncbi.nlm.nih.gov/27262366/ An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy. GARD:0010563 ORDO:439246 ABeta2M amyloidosis Amyloidosis Beta2M Aβ2M amyloidosis Beta2-microglobulinic amyloidosis dialysis-related beta2-microglobulin amyloidosis disease_ontology DOID:0080928 dialysis-related amyloidosis DOID:0080928 An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5153266/ An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. ORDO:314652 Autosomal dominant beta2-microglobulinic amyloidosis disease_ontology DOID:0080929 variant ABeta2M amyloidosis DOID:0080929 An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. url:https://pubmed.ncbi.nlm.nih.gov/32392555/ A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13. MIM:105250 familial primary localized cutaneous amyloidosis-1 disease_ontology DOID:0080930 primary localized cutaneous amyloidosis 1 DOID:0080930 A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13. url:https://pubmed.ncbi.nlm.nih.gov/19663869/ A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11. MIM:613955 disease_ontology DOID:0080931 primary localized cutaneous amyloidosis 2 DOID:0080931 A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11. url:https://pubmed.ncbi.nlm.nih.gov/19663869/ A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. MIM:617920 Amyloidosis cutis dyschromica disease_ontology DOID:0080932 primary localized cutaneous amyloidosis 3 DOID:0080932 A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. url:https://pubmed.ncbi.nlm.nih.gov/25866143/ An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. ICD10CM:E85.81 MESH:D000075363 AL amyloidosis Amyloidosis primary systemic Light chain amyloidosis Primary AL amyloidosis Primary systemic AL amyloidosis Primary systemic amyloidosis Systemic AL amyloidsis disease_ontology DOID:0080933 immunoglobulin light chain amyloidosis DOID:0080933 An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. url:https://pubmed.ncbi.nlm.nih.gov/26771835/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841939/ An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. ORDO:442582 AH amyloidosis Amyloidosis derived from immunoglobulin heavy chain Heavy chain amyloidosis Ig heavy-chain–associated amyloidosis disease_ontology DOID:0080934 immunoglobulin heavy chain amyloidosis DOID:0080934 An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. url:https://pubmed.ncbi.nlm.nih.gov/32703752/ An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils. AH/AL amyloidosis Ig heavy-and-light-chain amyloidosis disease_ontology DOID:0080935 immunoglobulin heavy-and-light chain DOID:0080935 An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils. url:https://pubmed.ncbi.nlm.nih.gov/23302715/ An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body. ICD10CM:E85.3 AA amyloidosis Apo serum amyloid A amyloidosis inflammation AA amyloidosis secondary amyloidosis disease_ontology DOID:0080936 serum amyloid A amyloidosis DOID:0080936 An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body. url:https://my.clevelandclinic.org/health/diseases/17854-amyloidosis-aa An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein. ATTRwt amyloidosis Age related amyloidosis Old age amyloidosis senile systemic amyloidosis wild-type ATTR amyloidosis wild-type transthyretin cardiac amyloidosis disease_ontology DOID:0080937 wild-type amyloidosis DOID:0080937 An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein. url:https://my.clevelandclinic.org/health/diseases/17855-amyloidosis-attr A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent. non-CAD disease_ontology DOID:0080938 nonobstructive coronary artery disease DOID:0080938 A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent. url:https://pubmed.ncbi.nlm.nih.gov/25369489/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536284/ non-CAD A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q. MIM:106100 hereditary angioedema type II disease_ontology DOID:0080939 hereditary angioedema type I DOID:0080939 A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q. url:https://pubmed.ncbi.nlm.nih.gov/11161971/ A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35. MESH:D056828 MIM:610618 disease_ontology DOID:0080940 hereditary angioedema type III DOID:0080940 A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35. url:https://pubmed.ncbi.nlm.nih.gov/16638441/ An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation. MESH:C538173 disease_ontology DOID:0080941 acquired angioedema DOID:0080941 An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation. url:https://www.ncbi.nlm.nih.gov/books/NBK430889/ A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. GARD:9657 MESH:C538256 MIM:PS607095 ORDO:93347 disease_ontology DOID:0080942 anauxetic dysplasia DOID:0080942 A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. url:https://www.ncbi.nlm.nih.gov/books/NBK84550/ A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26. MIM:618901 disease_ontology DOID:0080943 46,XX sex reversal 5 DOID:0080943 A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26. url:https://pubmed.ncbi.nlm.nih.gov/29478779/ An autoinflammatory disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23. MIM:616744 A20 haploinsufficiency disease_ontology DOID:0080944 familial Behcet-like autoinflammatory syndrome DOID:0080944 An autoinflammatory disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23. url:https://pubmed.ncbi.nlm.nih.gov/26642243/ An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36. MIM:618620 disease_ontology DOID:0080945 abdominal obesity-metabolic syndrome 4 DOID:0080945 An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36. url:https://pubmed.ncbi.nlm.nih.gov/31358993/ A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12. MIM:618863 ACBD5 deficiency disease_ontology DOID:0080946 retinal dystrophy with leukodystrophy DOID:0080946 A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12. url:https://pubmed.ncbi.nlm.nih.gov/27799409/ A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs. MESH:C000629404 disease_ontology DOID:0080947 acute flaccid myelitis DOID:0080947 A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7909727/ A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. MIM:618929 disease_ontology DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome DOID:0080948 A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. url:https://pubmed.ncbi.nlm.nih.gov/31585109/ A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy. disease_ontology DOID:0080949 alcoholic ketoacidosis DOID:0080949 A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy. url:https://medlineplus.gov/ency/article/000323.htm An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. MIM:618840 disease_ontology DOID:0080950 alopecia-mental retardation syndrome 4 DOID:0080950 An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. url:https://pubmed.ncbi.nlm.nih.gov/30723320/ An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2. MIM:613930 disease_ontology DOID:0080951 alopecia-mental retardation syndrome 3 DOID:0080951 An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2. url:https://pubmed.ncbi.nlm.nih.gov/17451405/ A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. MIM:619151 AMEDS disease_ontology DOID:0080952 AMED syndrome DOID:0080952 A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. url:https://pubmed.ncbi.nlm.nih.gov/33355142/ AMEDS An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13. MIM:617297 Amelogenesis imperfecta, type IJ disease_ontology DOID:0080953 amelogenesis imperfecta type 1J DOID:0080953 An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/27843125/ A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth. GARD:777 MIM:PS617468 disease_ontology DOID:0080954 arthrogryposis multiplex congenita DOID:0080954 A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth. url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/arthrogryposis url:https://www.merckmanuals.com/professional/pediatrics/congenital-craniofacial-and-musculoskeletal-abnormalities/arthrogryposis-multiplex-congenita A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children. NCI:C6772 disease_ontology DOID:0080956 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered DOID:0080956 A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6772 A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease. GARD:2872 MIM:604091 ORDO:425 familial HDL deficiency familial hypoalphalipoproteinemia disease_ontology DOID:0080957 primary hypoalphalipoproteinemia 1 DOID:0080957 A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease. url:https://medlineplus.gov/genetics/condition/familial-hdl-deficiency/ A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23. GARD:758 MIM:618463 ORDO:425 Apolipoprotein A-I deficiency disease_ontology DOID:0080958 primary hypoalphalipoproteinemia 2 DOID:0080958 A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23. url:https://pubmed.ncbi.nlm.nih.gov/29396262/ An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. MIM:618920 disease_ontology DOID:0080959 arrhythmogenic right ventricular dysplasia 14 DOID:0080959 An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. url:https://pubmed.ncbi.nlm.nih.gov/28280076/ An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32. MIM:617217 Amelogenesis imperfecta, hypomaturation type, IIA6 disease_ontology DOID:0080960 amelogenesis imperfecta type 2A6 DOID:0080960 An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32. url:https://pubmed.ncbi.nlm.nih.gov/3150442/ A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22. MIM:617396 disease_ontology DOID:0080962 anauxetic dysplasia 2 DOID:0080962 A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22. url:https://pubmed.ncbi.nlm.nih.gov/28067412/ A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13. MIM:618853 disease_ontology DOID:0080963 anauxetic dysplasia 3 DOID:0080963 A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13. url:https://pubmed.ncbi.nlm.nih.gov/31250547/ An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2. MIM:105800 disease_ontology DOID:0080964 intracranial berry aneurysm 1 DOID:0080964 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2. url:https://pubmed.ncbi.nlm.nih.gov/16736093/ An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13. MIM:608542 disease_ontology DOID:0080965 intracranial berry aneurysm 2 DOID:0080965 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/14872410/ An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36. MIM:609122 disease_ontology DOID:0080966 intracranial berry aneurysm 3 DOID:0080966 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36. url:https://pubmed.ncbi.nlm.nih.gov/16736093/ An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 5p15.2-p14.3. MIM:610213 disease_ontology DOID:0080967 intracranial berry aneurysm 4 DOID:0080967 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 5p15.2-p14.3. url:https://pubmed.ncbi.nlm.nih.gov/16736093/ An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome Xp22. MIM:300870 disease_ontology DOID:0080968 intracranial berry aneurysm 5 DOID:0080968 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome Xp22. url:https://pubmed.ncbi.nlm.nih.gov/16736093/ An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21. MIM:611892 disease_ontology DOID:0080969 intracranial berry aneurysm 6 DOID:0080969 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21. url:https://pubmed.ncbi.nlm.nih.gov/16736093/ An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 11q24-q25. MIM:612161 disease_ontology DOID:0080970 intracranial berry aneurysm 7 DOID:0080970 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 11q24-q25. url:https://pubmed.ncbi.nlm.nih.gov/16736093/ An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 14q23. MIM:612162 disease_ontology DOID:0080971 intracranial berry aneurysm 8 DOID:0080971 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 14q23. url:https://pubmed.ncbi.nlm.nih.gov/16736093/ An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 2q33.1. MIM:612586 disease_ontology DOID:0080972 intracranial berry aneurysm 9 DOID:0080972 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 2q33.1. url:https://pubmed.ncbi.nlm.nih.gov/16736093/ An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1. MIM:612587 disease_ontology DOID:0080973 intracranial berry aneurysm 10 DOID:0080973 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1. url:https://pubmed.ncbi.nlm.nih.gov/16736093/ An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8p22. MIM:614252 disease_ontology DOID:0080974 intracranial berry aneurysm 11 DOID:0080974 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8p22. url:https://pubmed.ncbi.nlm.nih.gov/16736093/ An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14. MIM:618734 disease_ontology DOID:0080975 intracranial berry aneurysm 12 DOID:0080975 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14. url:https://pubmed.ncbi.nlm.nih.gov/16736093/ An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia. ICDO:9912/3 NCI:C129785 Acute myeleoid leukemia with BCR-ABL1 disease_ontology DOID:0080976 acute myeloid leukemia with BCR-ABL1 DOID:0080976 An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia. url:https://pubmed.ncbi.nlm.nih.gov/27297971/ A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24. MIM:618496 disease_ontology DOID:0080977 aortic valve disease 3 DOID:0080977 A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24. url:https://pubmed.ncbi.nlm.nih.gov/30455415/ An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13. MIM:617468 disease_ontology DOID:0080978 arthrogryposis multiplex congenita-1 DOID:0080978 An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/28318499/ An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25. MIM:618484 disease_ontology DOID:0080979 arthrogryposis multiplex congenita-3 DOID:0080979 An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25. url:https://pubmed.ncbi.nlm.nih.gov/27782104/ An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23. MIM:618766 Zain syndrome disease_ontology DOID:0080980 arthrogryposis multiplex congenita-4 DOID:0080980 An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23. url:https://pubmed.ncbi.nlm.nih.gov/31960134/ An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34. MIM:618947 disease_ontology DOID:0080981 arthrogryposis multiplex congenita-5 DOID:0080981 An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/29053766/ A syndromic X-linked intellectual disability that is characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene. X-linked mental retardation-hypotonic facies syndrome comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. X-linked alpha-thalassemia/mental retardation syndrome is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes. disease_ontology DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 DOID:0080982 A syndromic X-linked intellectual disability that is characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene. X-linked mental retardation-hypotonic facies syndrome comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. X-linked alpha-thalassemia/mental retardation syndrome is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes. url:https://pubmed.ncbi.nlm.nih.gov/15508018/ A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion. GARD:2378 MIM:309548 ORDO:100973 Fragile XE syndrome fragile site on chromosome Xq28 disease_ontology DOID:0080984 X-linked intellectual developmental disorder 109 DOID:0080984 A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion. url:https://pubmed.ncbi.nlm.nih.gov/21739600/ A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype. GARD:3307 MIM:309520 ORDO:776 disease_ontology DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type DOID:0080985 A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype. url:https://medlineplus.gov/genetics/condition/lujan-syndrome/ url:https://www.ncbi.nlm.nih.gov/books/NBK1676/ An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13. GARD:12474 MIM:130080 ORDO:75392 disease_ontology DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 DOID:0080986 An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13. url:https://pubmed.ncbi.nlm.nih.gov/27745832/ An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13. GARD:12474 MIM:617174 ORDO:75392 disease_ontology DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 DOID:0080987 An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13. url:https://pubmed.ncbi.nlm.nih.gov/27745832/ An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa. GARD:2155 MIM:131850 ORDO:79410 disease_ontology DOID:0080988 pretibial dystrophic epidermolysis bullosa DOID:0080988 An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa. url:https://pubmed.ncbi.nlm.nih.gov/7738360/ A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome. GARD:8433 MESH:C536883 MIM:619542 ORDO:99741 disease_ontology DOID:0080990 King Denborough syndrome MESH:C536883 MIM:619542 DOID:0080990 A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome. url:https://www.ncbi.nlm.nih.gov/books/NBK1146/ A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form. GARD:10316 MIM:255320 ORDO:598 multiminicore disease disease_ontology DOID:0080991 congenital myopathy 1B DOID:0080991 A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form. url:https://pubmed.ncbi.nlm.nih.gov/11731287/ A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma. disease_ontology DOID:0080992 rhabdomyolysis-myalgia syndrome DOID:0080992 A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791790/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667763/ An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction. disease_ontology DOID:0080994 autoimmune epilepsy DOID:0080994 An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction. url:https://pubmed.ncbi.nlm.nih.gov/27112680/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694338/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7541993/ A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state. disease_ontology DOID:0080995 tuberculous encephalopathy DOID:0080995 A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state. url:https://radiopaedia.org/articles/tuberculous-encephalopathy?lang=us A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes. NCI:C36081 DLBCL ABC type disease_ontology DOID:0080996 diffuse large B-cell lymphoma activated B-cell type DOID:0080996 A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes. url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36081 A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. NCI:C36080 disease_ontology DOID:0080997 diffuse large B-cell lymphoma germinal center B-cell type DOID:0080997 A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36080 An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems. MESH:D019283 disease_ontology DOID:0080998 acute necrotizing pancreatitis DOID:0080998 An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems. url:https://pubmed.ncbi.nlm.nih.gov/28381378/ An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage. MESH:D000081032 disease_ontology DOID:0080999 acute hemorrhagic pancreatitis DOID:0080999 An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5400340/ A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23. MIM:615107 disease_ontology DOID:0081000 Cowden syndrome 4 DOID:0081000 A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23. url:https://pubmed.ncbi.nlm.nih.gov/21177507/ A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26. MIM:615108 disease_ontology DOID:0081001 Cowden syndrome 5 DOID:0081001 A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26. url:https://pubmed.ncbi.nlm.nih.gov/23246288/ A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3. MIM:615109 CWS6 disease_ontology DOID:0081002 Cowden syndrome 6 DOID:0081002 A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3. url:https://pubmed.ncbi.nlm.nih.gov/23246288/ CWS6 A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11. MIM:616858 disease_ontology DOID:0081003 Cowden syndrome 7 DOID:0081003 A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11. url:https://pubmed.ncbi.nlm.nih.gov/26522472/ A large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. NCI:C125904 HGBL-DH/TH High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements disease_ontology DOID:0081004 high-grade B-cell lymphoma double-hit/triple-hit DOID:0081004 A large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. url:https://pubmed.ncbi.nlm.nih.gov/29475959/ HGBL-DH/TH A vegetable allergy triggered by parsley (Petroselinum). disease_ontology DOID:0081005 parsley allergy DOID:0081005 A vegetable allergy triggered by parsley (Petroselinum). url:https://pubmed.ncbi.nlm.nih.gov/25648063/ A food allergy triggered by dill (Anethum graveolens). disease_ontology DOID:0081006 dill allergy DOID:0081006 A food allergy triggered by dill (Anethum graveolens). url:https://pubmed.ncbi.nlm.nih.gov/10831013/ A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. GARD:13199 MIM:612951 ORDO:85136 cystic leukoencephalopathy without megalencephaly infantile-onset RNASET2 deficient cystic leukoencephalopathy disease_ontology DOID:0081007 RNASET2-deficient cystic leukoencephalopathy DOID:0081007 A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. url:https://medlineplus.gov/genetics/condition/rnase-t2-deficient-leukoencephalopathy/#synonyms A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21. MIM:617173 ORDO:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome disease_ontology DOID:0081008 intellectual developmental disorder with cardiac arrhythmia DOID:0081008 A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21. url:https://pubmed.ncbi.nlm.nih.gov/27523599/ A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23. MIM:619471 disease_ontology DOID:0081009 Bardet-Biedl syndrome 20 DOID:0081009 A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23. url:https://pubmed.ncbi.nlm.nih.gov/24290075/ A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22. MIM:617406 disease_ontology DOID:0081010 Bardet-Biedl syndrome 21 DOID:0081010 A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22. url:https://pubmed.ncbi.nlm.nih.gov/27008867/ A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21. MIM:617119 disease_ontology DOID:0081011 Bardet-Biedl syndrome 22 DOID:0081011 A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21. url:https://pubmed.ncbi.nlm.nih.gov/27486776/ A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy. disease_ontology DOID:0081012 critical COVID-19 DOID:0081012 A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy. url:https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1 A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs. disease_ontology DOID:0081013 severe COVID-19 DOID:0081013 A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs. url:https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1 A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19. disease_ontology DOID:0081014 non-severe COVID-19 DOID:0081014 A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19. url:https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1 A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12. MIM:135700 disease_ontology DOID:0081015 congenital fibrosis of the extraocular muscles 1 DOID:0081015 A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12. url:https://pubmed.ncbi.nlm.nih.gov/18214786/ A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13. MIM:602078 disease_ontology DOID:0081016 congenital fibrosis of the extraocular muscles 2 DOID:0081016 A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13. url:https://pubmed.ncbi.nlm.nih.gov/11600883/ A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24. MIM:600638 disease_ontology DOID:0081017 congenital fibrosis of the extraocular muscles 3A DOID:0081017 A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24. url:https://pubmed.ncbi.nlm.nih.gov/18214786/ A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11). MIM:609384 disease_ontology DOID:0081019 congenital fibrosis of the extraocular muscles 3C DOID:0081019 A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11). url:https://pubmed.ncbi.nlm.nih.gov/15744040/ A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25. MIM:616219 disease_ontology DOID:0081020 congenital fibrosis of the extraocular muscles 5 DOID:0081020 A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25. url:https://pubmed.ncbi.nlm.nih.gov/25500261/ A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left. GARD:9814 MESH:C536925 MIM:609428 congenital fibrosis of the extraocular muscles 4 disease_ontology DOID:0081021 Tukel syndrome DOID:0081021 A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left. url:https://pubmed.ncbi.nlm.nih.gov/15863670/ A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24. GARD:10649 MESH:C563678 MIM:610356 ORDO:209932 cone dystrophy with supernormal rod responses disease_ontology DOID:0081022 retinal cone dystrophy 3B DOID:0081022 A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24. url:https://pubmed.ncbi.nlm.nih.gov/15722315/ A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13. GARD:10650 MESH:C566470 MIM:610478 disease_ontology DOID:0081023 retinal cone dystrophy 4 DOID:0081023 A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13. url:https://pubmed.ncbi.nlm.nih.gov/26560832/ A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration. GARD:3196 MESH:C566719 MIM:180020 disease_ontology DOID:0081024 retinal cone dystrophy 1 DOID:0081024 A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration. url:https://pubmed.ncbi.nlm.nih.gov/15051206/ url:https://pubmed.ncbi.nlm.nih.gov/4573331/ A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H0) on chromosome 12p13. GARD:10648 MESH:C566483 MIM:610024 disease_ontology DOID:0081025 retinal cone dystrophy 3A DOID:0081025 A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H0) on chromosome 12p13. url:https://pubmed.ncbi.nlm.nih.gov/22901948/ A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels. NCI:C126357 disease_ontology DOID:0081026 benign peritoneal solitary fibrous tumor DOID:0081026 A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels. url:https://medscimonit.com/abstract/index/idArt/459077/act/3 A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. ICDO:8315/3 NCI:C4153 SNOMEDCT_US_2023_03_01:189656007 UMLS_CUI:C0334319 disease_ontology DOID:0081028 glycogen-rich carcinoma DOID:0081028 A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5350496/ A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22. MIM:617300 lymphatic malformation-7 disease_ontology DOID:0081030 central conducting lymphatic anomaly DOID:0081030 A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22. url:https://pubmed.ncbi.nlm.nih.gov/31263281/ A lymphatic system disease that is characterized by abnormal overgrowth of lymphatic vessels with multiple areas in the lungs, pleura, bones and soft tissues leading to lymphatic malformations. disease_ontology DOID:0081031 generalized lymphatic anomaly DOID:0081031 A lymphatic system disease that is characterized by abnormal overgrowth of lymphatic vessels with multiple areas in the lungs, pleura, bones and soft tissues leading to lymphatic malformations. url:https://pubmed.ncbi.nlm.nih.gov/31263281/ A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline. MIM:266130 ORDO:32 disease_ontology DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria DOID:0081034 A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline. url:https://pubmed.ncbi.nlm.nih.gov/15990954/ An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR. ICDO:9806/3 NCI:C82192 Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 disease_ontology DOID:0081036 mixed phenotype acute leukemia with BCR-ABL1 DOID:0081036 An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6369089/ An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner. ICDO:9807/3 NCI:C82203 UMLS_CUI:C2826048 Mixed Phenotype Acute Leukemia with t(v;11q23.3); MLL Rearranged disease_ontology DOID:0081037 mixed phenotype acute leukemia with MLL rearranged DOID:0081037 An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner. url:https://pubmed.ncbi.nlm.nih.gov/32350732/ An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation. ICDO:9808/3 NCI:C82212 disease_ontology DOID:0081038 mixed phenotype acute leukemia, B/myeloid DOID:0081038 An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation. url:https://pubmed.ncbi.nlm.nih.gov/29686566/ An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens. ICDO:9809/3 disease_ontology DOID:0081039 mixed phenotype acute leukemia, T/myeloid DOID:0081039 An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens. url:https://link.springer.com/article/10.1186/1471-2407-14-963 A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood. GARD:8223 ICDO:9833/3 NCI:C4753 ORDO:86852 B Cell Prolymphocytic Leukemia Prolymphocytic leukemia, B-cell type disease_ontology DOID:0081041 B-cell prolymphocytic leukemia DOID:0081041 A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood. url:https://pubmed.ncbi.nlm.nih.gov/34293709/ A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. ICDO:9834/3 NCI:C4752 ORDO:86871 Prolymphocytic leukemia, T-cell type T Cell Prolymphocytic Leukemia disease_ontology DOID:0081042 T-cell prolymphocytic leukemia DOID:0081042 A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. url:https://pubmed.ncbi.nlm.nih.gov/31082044/ A fetal akinesia deformation sequence syndrom that is an X-linked form that is characterized by brain malformations, telecanthus, and narrow palpebral fissures. GARD:2293 MIM:300073 disease_ontology DOID:0081043 fetal akinesia deformation sequence syndrome X-linked DOID:0081043 A fetal akinesia deformation sequence syndrom that is an X-linked form that is characterized by brain malformations, telecanthus, and narrow palpebral fissures. url:https://pubmed.ncbi.nlm.nih.gov/9018412/ A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak. GARD:2392 MESH:C538065 MIM:PS136760 disease_ontology DOID:0081044 frontonasal dysplasia DOID:0081044 A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak. url:https://medlineplus.gov/genetics/condition/frontonasal-dysplasia/ url:https://pubmed.ncbi.nlm.nih.gov/27920634/ A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13. MIM:136760 Frontorhiny disease_ontology DOID:0081045 frontonasal dysplasia 1 DOID:0081045 A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13. url:https://pubmed.ncbi.nlm.nih.gov/19409524/ A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11. MIM:613451 disease_ontology DOID:0081046 frontonasal dysplasia 2 DOID:0081046 A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11. url:https://pubmed.ncbi.nlm.nih.gov/22140057/ A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21. MIM:613456 disease_ontology DOID:0081047 frontonasal dysplasia 3 DOID:0081047 A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21. url:https://pubmed.ncbi.nlm.nih.gov/20451171/ url:https://pubmed.ncbi.nlm.nih.gov/27324866/ A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33. MIM:616266 ORDO:562528 CLIFAHDD syndrome congenital contractures of the limbs and face, hypotonia, and developmental delay disease_ontology DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome DOID:0081048 A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33. url:https://pubmed.ncbi.nlm.nih.gov/25864427/ url:https://pubmed.ncbi.nlm.nih.gov/30167850/ url:https://www.nature.com/articles/s41598-019-48071-x A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. NCI:C8459 ORDO:86882 disease_ontology DOID:0081049 hepatosplenic T-cell lymphoma DOID:0081049 A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7596851/ A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype. NCI:C45340 UMLS_CUI:C1707547 Primary Cutaneous Gamma-Delta T Cell Lymphomas cutaneous gamma/delta T-cell lymphoma disease_ontology DOID:0081050 primary cutaneous gamma-delta T-cell lymphoma DOID:0081050 A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3471805/ url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8628721/ A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22. MIM:618346 disease_ontology DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations DOID:0081051 A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22. url:https://pubmed.ncbi.nlm.nih.gov/26416026/ A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction. disease_ontology DOID:0081052 neurobehavioral disorder with prenatal alcohol exposure DOID:0081052 A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction. url:https://pubmed.ncbi.nlm.nih.gov/27464676/ url:https://www.cdc.gov/ncbddd/fasd/facts.html A diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis. GARD:6015 ORDO:178029 disease_ontology DOID:0081055 central diabetes insipidus DOID:0081055 A diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis. url:https://pubmed.ncbi.nlm.nih.gov/15070970/ A diabetes insipidus that is characterized by progressively rising levels of placental vasopressinase throughout pregnancy, resulting in decreased endogenous vasopressin and resulting hypotonic polyuria worsening through the pregnancy. MESH:C548014 transient diabetes insipidus of pregnancy disease_ontology DOID:0081057 gestational diabetes insipidus DOID:0081057 A diabetes insipidus that is characterized by progressively rising levels of placental vasopressinase throughout pregnancy, resulting in decreased endogenous vasopressin and resulting hypotonic polyuria worsening through the pregnancy. url:https://pubmed.ncbi.nlm.nih.gov/32205050/ A diabetes insipidus that is characterized by excessive thirst, polyuria with low urine osmolality, and intact urine concentrating ability. MESH:C548013 disease_ontology DOID:0081058 dipsogenic diabetes insipidus DOID:0081058 A diabetes insipidus that is characterized by excessive thirst, polyuria with low urine osmolality, and intact urine concentrating ability. url:https://pubmed.ncbi.nlm.nih.gov/33916272/ url:https://pubmed.ncbi.nlm.nih.gov/3455068/ A central diabetes insipidus that has_material_basis_in X-linked inheritance. MIM:304900 ORDO:30925 X-linked neurohypophyseal diabetes insipidus disease_ontology DOID:0081059 X-linked central diabetes insipidus DOID:0081059 A central diabetes insipidus that has_material_basis_in X-linked inheritance. url:https://pubmed.ncbi.nlm.nih.gov/15070970/ A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28. MIM:304800 nephrogenic diabetes insipidus type 1 disease_ontology DOID:0081060 X-linked nephrogenic diabetes insipidus DOID:0081060 A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28. url:https://pubmed.ncbi.nlm.nih.gov/11181969/ A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13. MIM:125800 autosomal nephrogenic diabetes insipidus-2 disease_ontology DOID:0081061 nephrogenic diabetes insipidus type 2 DOID:0081061 A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13. url:https://medlineplus.gov/ency/article/000511.htm A glucose metabolism disease that is characterized by high blood glucose. disease_ontology DOID:0081062 obsolete diabetes true DOID:0081062 A glucose metabolism disease that is characterized by high blood glucose. url:https://medlineplus.gov/diabetes.html A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. MIM:601200 ORDO:284343 PPB familial tumor susceptibility syndrome Pleuro-pulmonary blastoma familial tumor susceptibility Pleuro-pulmonary blastoma familial tumor susceptibility syndrome Pleuropulmonary blastoma familial tumor susceptibility syndrome disease_ontology DOID:0081063 DICER1 syndrome DOID:0081063 A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. url:https://medlineplus.gov/genetics/condition/dicer1-syndrome/ url:https://pubmed.ncbi.nlm.nih.gov/31409088/ url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5977116/ A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding. NCI:C148395 BN2 DLBCL disease_ontology DOID:0081064 BN2 diffuse large B-cell lymphoma DOID:0081064 A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding. url:https://pubmed.ncbi.nlm.nih.gov/29641966/ url:https://www.ncbi.nlm.nih.gov/articles/PMC8459709/ BN2 DLBCL A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding. NCI:C148398 EZB DLBCL disease_ontology DOID:0081065 EZB diffuse large B-cell lymphoma DOID:0081065 A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding. url:https://pubmed.ncbi.nlm.nih.gov/29641966/ url:https://www.ncbi.nlm.nih.gov/articles/PMC8459709/ EZB DLBCL A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding. NCI:C148394 MCD DLBCL disease_ontology DOID:0081066 MCD diffuse large B-cell lymphoma DOID:0081066 A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding. url:https://pubmed.ncbi.nlm.nih.gov/29641966/ url:https://www.ncbi.nlm.nih.gov/articles/PMC8459709/ MCD DLBCL A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features. NCI:C148396 N1 DLBCL disease_ontology DOID:0081067 N1 diffuse large B-cell lymphoma DOID:0081067 A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features. url:https://pubmed.ncbi.nlm.nih.gov/29641966/ N1 DLBCL A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding. ST2 DLBCL disease_ontology DOID:0081068 ST2 diffuse large B-cell lymphoma DOID:0081068 A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding. url:https://www.ncbi.nlm.nih.gov/articles/PMC6010183/ url:https://www.ncbi.nlm.nih.gov/articles/PMC8459709/ ST2 DLBCL A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation. A53 DLBCL disease_ontology DOID:0081069 A53 diffuse large B-cell lymphoma DOID:0081069 A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation. url:https://pubmed.ncbi.nlm.nih.gov/32289277/ A53 DLBCL An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations. EZB-MYC+ DLBCL disease_ontology DOID:0081070 EZB-MYC+ diffuse large B-cell lymphoma DOID:0081070 An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations. url:https://pubmed.ncbi.nlm.nih.gov/32289277/ url:https://www.ncbi.nlm.nih.gov/articles/PMC6010183/ EZB-MYC+ DLBCL An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations. EZB-MYC- DLBCL disease_ontology DOID:0081071 EZB-MYC- diffuse large B-cell lymphoma DOID:0081071 An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations. url:https://pubmed.ncbi.nlm.nih.gov/32289277/ url:https://www.ncbi.nlm.nih.gov/articles/PMC6010183/ EZB-MYC- DLBCL A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. GARD:1210 MIM:PS213980 ORDO:1394 Cerebro-facio-thoracic dysplasia Cerebrofaciothoracic dysplasia Pascual-Castroviejo syndrome TMCO1 defect syndrome disease_ontology DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome DOID:0081072 A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. url:https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia/ url:https://pubmed.ncbi.nlm.nih.gov/20018682/ url:https://pubmed.ncbi.nlm.nih.gov/24194475/ url:https://pubmed.ncbi.nlm.nih.gov/30556256/ A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features. GARD:957 MIM:PS145420 ORDO:2745 Brachycephalofrontonasal dysplasia disease_ontology DOID:0081073 Teebi hypertelorism syndrome DOID:0081073 A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features. url:https://pubmed.ncbi.nlm.nih.gov/26111080/ url:https://www.omim.org/entry/145420 A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the CDH11 gene on chromosome 16q21. MIM:619736 disease_ontology DOID:0081074 Teebi hypertelorism syndrome 2 DOID:0081074 A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the CDH11 gene on chromosome 16q21. url:https://pubmed.ncbi.nlm.nih.gov/33811546/ A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11. MIM:147430 congenital analgesia congenital insensitivity to pain disease_ontology DOID:0081075 Marsili syndrome DOID:0081075 A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11. url:https://pubmed.ncbi.nlm.nih.gov/29253101/ An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes. NCI:C7203 Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor Agranular CD4+ Natural Killer Cell Leukemia Blastic NK-Cell Lymphoma Blastic Natural Killer Leukemia/Lymphoma CD4+/CD56+ Hematodermic Neoplasm natural killer (NK) cell leukemia/lymphoma disease_ontology DOID:0081076 blastic plasmacytoid dendritic cell neoplasm DOID:0081076 An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes. url:https://pubmed.ncbi.nlm.nih.gov/30350260/ url:https://pubmed.ncbi.nlm.nih.gov/31972688/ url:https://www.lls.org/leukemia/blastic-plasmacytoid-dendritic-cell-neoplasm An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency. GARD:9936 MIM:PS300291 Anhidrotic ectodermal dysplasia with immune deficiency Ectodermal dysplasia, hypohidrotic, with immune deficiency disease_ontology DOID:0081077 ectodermal dysplasia and immune deficiency DOID:0081077 An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency. url:https://medlineplus.gov/genetics/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency/ url:https://pubmed.ncbi.nlm.nih.gov/27477329/ url:https://pubmed.ncbi.nlm.nih.gov/34815879/ An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28. MIM:300291 ORDO:69088 disease_ontology DOID:0081078 ectodermal dysplasia and immunodeficiency 1 DOID:0081078 An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28. url:https://pubmed.ncbi.nlm.nih.gov/31965418/ An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13. MIM:612132 disease_ontology DOID:0081079 ectodermal dysplasia and immunodeficiency 2 DOID:0081079 An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13. url:https://pubmed.ncbi.nlm.nih.gov/28597146/ An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. ICDO:9865/3 NCI:C82423 SNOMEDCT_US_2023_03_01:450928003 UMLS_CUI:C2826169 Acute Myeloid Leukemia with t(6;9) (p23;q34.1); DEK-NUP214 DEK-NUP214 acute myeloid leukemia with t(6;9)(p23;q34) disease_ontology DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) DOID:0081080 An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. url:https://pubmed.ncbi.nlm.nih.gov/32526729/ An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate. ICDO:9866/3 NCI:C3182 acute promyelocytic leukemia, t(15;17)(q22;q11-12) disease_ontology DOID:0081081 acute promyelocytic leukemia with PML-RARA DOID:0081081 An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate. url:https://pubmed.ncbi.nlm.nih.gov/24720386/ An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors. ICD10CM:C92.5 ICDO:9867/3 MESH:D015479 NCI:C7463 SNOMEDCT_US_2023_03_01:30962008 UMLS_CUI:C0023479 disease_ontology DOID:0081082 acute myelomonocytic leukemia DOID:0081082 An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors. url:https://pubmed.ncbi.nlm.nih.gov/31915926/ An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression. ICDO:9869/3 NCI:C82426 SNOMEDCT_US_2023_03_01:780844005 UMLS_CUI:C2826172 Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1 disease_ontology DOID:0081083 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) DOID:0081083 An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression. url:https://pubmed.ncbi.nlm.nih.gov/31711889/ An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11. ICDO:9871/3 SNOMEDCT_US_2023_03_01:103688009 UMLS_CUI:C0522630 Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 acute myeloid leukemia with abnormal marrow eosinophils disease_ontology DOID:0081084 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) DOID:0081084 An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11. url:https://pubmed.ncbi.nlm.nih.gov/31353165/ url:https://pubmed.ncbi.nlm.nih.gov/33303720/ An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. ICD10CM:C92.0 ICDO:9872/3 NCI:C8460 SNOMEDCT_US_2023_03_01:103689001 UMLS_CUI:C0522631 AML-M0 Acute myeloid leukemia, minimal differentiation disease_ontology DOID:0081085 acute myeloid leukemia with minimal differentiation DOID:0081085 An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. url:https://pubmed.ncbi.nlm.nih.gov/12110349/ AML-M0 An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage. GARD:526 ICD10CM:C92.0 ICDO:9873/3 MESH:D015470 NCI:C3249 ORDO:98833 SNOMEDCT_US_2023_03_01:103690005 UMLS_CUI:C0026998 disease_ontology DOID:0081086 acute myeloid leukemia without maturation DOID:0081086 An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage. url:https://wiki.clinicalflow.com/aml-acute-myelogenous-leukemia-without-maturation-m1 An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage. ICD10CM:C92.0 ICDO:9874/3 MESH:D015470 NCI:C3250 SNOMEDCT_US_2023_03_01:103691009 UMLS_CUI:C1879321 disease_ontology DOID:0081087 acute myeloid leukemia with maturation DOID:0081087 An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage. url:https://en.wikipedia.org/wiki/Acute_myeloblastic_leukemia_with_maturation A chronic myeloid leukemia that is characterized by an abnormally high number of neutrophils and the expression of the BCR-ABL1 fusion gene. ICD9CM:205.1 ICDO:9875/3 SNOMEDCT_US_2023_03_01:154592009 UMLS_CUI:C0023473 Chronic myelogenous leukemia, BCR/ABL positive disease_ontology DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive DOID:0081088 A chronic myeloid leukemia that is characterized by an abnormally high number of neutrophils and the expression of the BCR-ABL1 fusion gene. url:https://pubmed.ncbi.nlm.nih.gov/32239758/ An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. ICDO:9877/3 NCI:C82431 SNOMEDCT_US_2023_03_01:703820005 UMLS_CUI:C2826177 disease_ontology DOID:0081089 acute myeloid leukemia with mutated NPM1 DOID:0081089 An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. url:https://pubmed.ncbi.nlm.nih.gov/32609823/ An acute myeloid leukemia with double mutations of the CEBPA gene. ICDO:9878/3 NCI:C129782 disease_ontology DOID:0081090 acute myeloid leukemia with biallelic mutation of CEBPA DOID:0081090 An acute myeloid leukemia with double mutations of the CEBPA gene. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394975/ An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities. ICDO:9879/3 NCI:C129786 disease_ontology DOID:0081091 acute myeloid leukemia with mutated RUNX1 DOID:0081091 An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities. url:https://pubmed.ncbi.nlm.nih.gov/32871587/ An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities. ICDO:9895/3 NCI:C7600 SNOMEDCT_US_2023_03_01:128827005 UMLS_CUI:C2825139 disease_ontology DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes DOID:0081092 An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities. url:https://pubmed.ncbi.nlm.nih.gov/32864703/ An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules. ICDO:9896/3 NCI:C9288 UMLS_CUI:C1292774 UMLS_CUI:C2347540 UMLS_CUI:C5707782 Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1 acute myeloid leukemia, t(8;21)(q22;q22) disease_ontology DOID:0081093 acute myeloid leukemia with t(8;21); (q22; q22.1) DOID:0081093 An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules. url:https://pubmed.ncbi.nlm.nih.gov/31004601/ url:https://pubmed.ncbi.nlm.nih.gov/35502592/ An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene. ICDO:9897/3 NCI:C174129 Acute Myeloid Leukemia with KMT2A/MLL Rearrangement acute myeloid leukemia, 11q23 abnormalities disease_ontology DOID:0081094 acute myeloid leukemia with MLL rearrangement DOID:0081094 An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene. url:https://pubmed.ncbi.nlm.nih.gov/34964255/ An acute myeloid leukemia with non-germline mutations of the CEBPA gene. ICDO:9861/3 NCI:C82433 disease_ontology DOID:0081095 acute myeloid leukemia with mutated CEBPA DOID:0081095 An acute myeloid leukemia with non-germline mutations of the CEBPA gene. url:https://medlineplus.gov/genetics/condition/familial-acute-myeloid-leukemia-with-mutated-cebpa/ An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein. ICDO:9911/3 NCI:C82427 Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1 disease_ontology DOID:0081096 acute myeloid leukemia with t(1;22)(p13;q13) DOID:0081096 An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein. url:https://pubmed.ncbi.nlm.nih.gov/22469944/ An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34. MIM:614202 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 disease_ontology DOID:0081097 Rafiq syndrome DOID:0081097 An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/29908352/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRAPPC9 gene on chromosome 8q24. MIM:613192 disease_ontology DOID:0081098 autosomal recessive intellectual developmental disorder 13 DOID:0081098 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRAPPC9 gene on chromosome 8q24. url:https://pubmed.ncbi.nlm.nih.gov/22549410/ An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13. MIM:615286 autosomal recessive mental retardation 36 disease_ontology DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies DOID:0081099 An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/30296593/ A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life. GARD:5555 MESH:C536692 MIM:312910 ORDO:2815 Spastic paraparesis-deafness syndrome Wells Jankovic Syndrome disease_ontology DOID:0081100 spastic paraplegia with deafness DOID:0081100 A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life. url:https://pubmed.ncbi.nlm.nih.gov/27271711/ url:https://pubmed.ncbi.nlm.nih.gov/3741213/ A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31. MIM:609152 ORDO:424 Congenital nonautoimmune hyperthyroidism disease_ontology DOID:0081101 nonautoimmune hyperthyroidism DOID:0081101 A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31. url:https://pubmed.ncbi.nlm.nih.gov/8964822/ A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31. MIM:603373 ORDO:99819 disease_ontology DOID:0081102 familial gestational hyperthyroidism DOID:0081102 A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31. url:https://pubmed.ncbi.nlm.nih.gov/9267761/ A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head. MIM:PS613339 ORDO:166412 bathing epilepsy water immersion epilepsy disease_ontology DOID:0081104 hot water epilepsy DOID:0081104 A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head. url:https://pubmed.ncbi.nlm.nih.gov/12558829/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/ A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm. ORDO:50942 disease_ontology DOID:0081105 keratosis palmoplantaris striata DOID:0081105 A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm. url:https://pubmed.ncbi.nlm.nih.gov/29934816/ A hot water epilepsy that has_material_basis_in a susceptibility locus for hot water epilepsy (HWE1) mapped to chromosome 10q21.3-q22.3. MIM:613339 Hot Water Epilepsy, 1 disease_ontology DOID:0081106 hot water epilepsy 1 DOID:0081106 A hot water epilepsy that has_material_basis_in a susceptibility locus for hot water epilepsy (HWE1) mapped to chromosome 10q21.3-q22.3. url:https://pubmed.ncbi.nlm.nih.gov/12558829/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/ A hot water epilepsy that has_material_basis_in linkage to chromosome 4q24-q28. MIM:613340 Hot Water Epilepsy, 2 disease_ontology DOID:0081107 hot water epilepsy 2 DOID:0081107 A hot water epilepsy that has_material_basis_in linkage to chromosome 4q24-q28. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/ A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12. GARD:9172 MESH:C536162 MIM:148700 ORDO:369999 ORDO:370002 disease_ontology DOID:0081108 keratosis palmoplantaris striata 1 DOID:0081108 A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12. url:https://pubmed.ncbi.nlm.nih.gov/29934816/ A keratosis palmoplantaris striata that is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor and that has_material_basis_in heterozygous mutation in the DSP gene on chromosome 6p24. MESH:C565102 MIM:612908 disease_ontology DOID:0081109 keratosis palmoplantaris striata 2 DOID:0081109 A keratosis palmoplantaris striata that is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor and that has_material_basis_in heterozygous mutation in the DSP gene on chromosome 6p24. url:https://pubmed.ncbi.nlm.nih.gov/10594734/ A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. MESH:C536163 MIM:607654 disease_ontology DOID:0081110 keratosis palmoplantaris striata 3 DOID:0081110 A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/11982762/ A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26. MIM:615198 ORDO:500548 disease_ontology DOID:0081111 osteosclerotic metaphyseal dysplasia DOID:0081111 A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26. url:https://pubmed.ncbi.nlm.nih.gov/18811698/ A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome. MIM:243310 disease_ontology DOID:0081112 Baraitser-Winter syndrome 1 DOID:0081112 A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome. url:https://pubmed.ncbi.nlm.nih.gov/29220674/ A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25. MIM:614583 disease_ontology DOID:0081113 Baraitser-Winter syndrome 2 DOID:0081113 A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25. url:https://pubmed.ncbi.nlm.nih.gov/25052316/ A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in the BFIS1 locus mapped to chromosome 19q. MIM:601764 Benign Familial Infantile Seizures, 1 disease_ontology DOID:0081114 benign familial infantile seizures 1 DOID:0081114 A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in the BFIS1 locus mapped to chromosome 19q. url:https://pubmed.ncbi.nlm.nih.gov/9339675/ A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the PRRT2 gene on chromosome 16p11. MIM:605751 Benign Familial Infantile Seizures, 2 disease_ontology DOID:0081115 benign familial infantile seizures 2 DOID:0081115 A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the PRRT2 gene on chromosome 16p11. url:https://pubmed.ncbi.nlm.nih.gov/18479385/ A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24. MIM:607745 Benign Familial Infantile Seizures, 3 benign familial neonatal-infantile seizures disease_ontology DOID:0081116 benign familial infantile seizures 3 DOID:0081116 A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24. url:https://pubmed.ncbi.nlm.nih.gov/11094099/ A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in an association on chromosome 1p36.12-p35.1. MIM:612627 Benign Familial Infantile Seizures, 4 disease_ontology DOID:0081117 benign familial infantile seizures 4 DOID:0081117 A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in an association on chromosome 1p36.12-p35.1. url:https://pubmed.ncbi.nlm.nih.gov/18811698/ A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13. MIM:617080 Benign Familial Infantile Seizures, 5 disease_ontology DOID:0081118 benign familial infantile seizures 5 DOID:0081118 A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/23086396/ A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21. MIM:610353 Autosomal dominant nocturnal frontal lobe epilepsy Benign Familial Infantile Seizures, 6 nocturnal frontal lobe epilepsy-4 disease_ontology DOID:0081119 benign familial infantile seizures 6 DOID:0081119 A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21. url:https://pubmed.ncbi.nlm.nih.gov/25847220/ An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes. MESH:D049970 Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease disease_ontology DOID:0081120 Graves ophthalmopathy DOID:0081120 An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes. url:https://en.wikipedia.org/wiki/Graves%27_ophthalmopathy An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. MIM:619733 multisystem proteinopathy 6 disease_ontology DOID:0081121 inclusion body myopathy and brain white matter abnormalities DOID:0081121 An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. url:https://pubmed.ncbi.nlm.nih.gov/34048612/ A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. GARD:28 MESH:C535347 MIM:616145 ORDO:1388 Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Micrognathia digital syndrome disease_ontology DOID:0081122 Catel Manzke syndrome DOID:0081122 A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. url:https://pubmed.ncbi.nlm.nih.gov/18501694/ A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death. GARD:5611 MIM:309555 ORDO:3078 mental retardation with optic atrophy, deafness and seizures disease_ontology DOID:0081123 X-linked mental retardation Gustavson type DOID:0081123 A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death. url:https://pubmed.ncbi.nlm.nih.gov/8503440/ A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24. MIM:213980 disease_ontology DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 DOID:0081124 A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24. url:https://pubmed.ncbi.nlm.nih.gov/24194475/ A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11. MIM:616994 disease_ontology DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 DOID:0081125 A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11. url:https://pubmed.ncbi.nlm.nih.gov/24194475/ A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. MIM:616708 ORDO:284169 ORDO:466943 ORDO:466950 Chromosome 10p12-p11 deletion syndrome Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome disease_ontology DOID:0081126 DeSanto-Shinawi syndrome DOID:0081126 A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. url:https://pubmed.ncbi.nlm.nih.gov/26264232/ url:https://www.ncbi.nlm.nih.gov/articles/PMC9034681/ url:https://www.ncbi.nlm.nih.gov/books/NBK465012/ A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body. GARD:11893 MIM:PS248370 ORDO:2457 disease_ontology DOID:0081127 mandibuloacral dysplasia DOID:0081127 A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body. url:https://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia/ url:https://pubmed.ncbi.nlm.nih.gov/29208544/ url:https://rarediseases.org/rare-diseases/mandibuloacral-dysplasia/ A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. GARD:3374 MIM:248370 ORDO:90153 disease_ontology DOID:0081128 mandibuloacral dysplasia type A lipodystrophy DOID:0081128 A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. url:https://pubmed.ncbi.nlm.nih.gov/19764019/ A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. MIM:608612 disease_ontology DOID:0081129 mandibuloacral dysplasia type B lipodystrophy DOID:0081129 A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. url:https://pubmed.ncbi.nlm.nih.gov/11836320/ A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15. MIM:261630 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency disease_ontology DOID:0081130 BH4-deficient hyperphenylalaninemia C DOID:0081130 A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15. url:https://pubmed.ncbi.nlm.nih.gov/11388593/ A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22. GARD:2843 MIM:264070 ORDO:1578 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency disease_ontology DOID:0081131 BH4-deficient hyperphenylalaninemia D DOID:0081131 A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22. url:https://pubmed.ncbi.nlm.nih.gov/24204001/ An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. GARD:7751 ORDO:238583 disease_ontology DOID:0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia DOID:0081132 An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. url:https://medlineplus.gov/genetics/condition/tetrahydrobiopterin-deficiency/ url:https://pubmed.ncbi.nlm.nih.gov/11388593/ A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13. MIM:619835 disease_ontology DOID:0081133 3-methylglutaconic aciduria type 7a DOID:0081133 A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13. url:https://pubmed.ncbi.nlm.nih.gov/34140661/ A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13. MIM:616271 disease_ontology DOID:0081134 3-methylglutaconic aciduria type 7b DOID:0081134 A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13. url:https://pubmed.ncbi.nlm.nih.gov/25597510/ url:https://pubmed.ncbi.nlm.nih.gov/25597511/ An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11. MIM:613500 disease_ontology DOID:0081135 agammaglobulinemia 2 DOID:0081135 An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11. url:https://pubmed.ncbi.nlm.nih.gov/32384040/ An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32. MIM:601495 disease_ontology DOID:0081136 agammaglobulinemia 1 DOID:0081136 An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32. url:https://pubmed.ncbi.nlm.nih.gov/32384040/ An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2. MIM:613501 disease_ontology DOID:0081137 agammaglobulinemia 3 DOID:0081137 An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2. url:https://pubmed.ncbi.nlm.nih.gov/32384040/ An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23. MIM:612692 disease_ontology DOID:0081138 agammaglobulinemia 6 DOID:0081138 An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23. url:https://pubmed.ncbi.nlm.nih.gov/32384040/ An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13. MIM:615214 disease_ontology DOID:0081139 agammaglobulinemia 7 DOID:0081139 An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13. url:https://pubmed.ncbi.nlm.nih.gov/32384040/ An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13. MIM:616941 disease_ontology DOID:0081140 agammaglobulinemia 8A DOID:0081140 An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/32384040/ An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21. MIM:619693 disease_ontology DOID:0081141 agammaglobulinemia 9 DOID:0081141 An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21. url:https://pubmed.ncbi.nlm.nih.gov/32384040/ An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11. MIM:619707 disease_ontology DOID:0081142 agammaglobulinemia 10 DOID:0081142 An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11. url:https://pubmed.ncbi.nlm.nih.gov/32384040/ An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13. MIM:619824 disease_ontology DOID:0081143 agammaglobulinemia 8B DOID:0081143 An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/32384040/ A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33. MIM:607594 disease_ontology DOID:0081144 common variable immunodeficiency 1 DOID:0081144 A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33. url:https://pubmed.ncbi.nlm.nih.gov/19426217/ A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2. MIM:240500 disease_ontology DOID:0081145 common variable immunodeficiency 2 DOID:0081145 A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2. url:https://pubmed.ncbi.nlm.nih.gov/16007087/ A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2. MIM:613493 disease_ontology DOID:0081146 common variable immunodeficiency 3 DOID:0081146 A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2. url:https://pubmed.ncbi.nlm.nih.gov/16672701/ A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13. MIM:613494 disease_ontology DOID:0081147 common variable immunodeficiency 4 DOID:0081147 A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13. url:https://pubmed.ncbi.nlm.nih.gov/19666484/ A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13. MIM:613495 disease_ontology DOID:0081148 common variable immunodeficiency 5 DOID:0081148 A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13. url:https://pubmed.ncbi.nlm.nih.gov/20038800/ A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p. MIM:613496 disease_ontology DOID:0081149 common variable immunodeficiency 6 DOID:0081149 A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p. url:https://pubmed.ncbi.nlm.nih.gov/20237408/ A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32. MIM:614699 disease_ontology DOID:0081150 common variable immunodeficiency 7 DOID:0081150 A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32. url:https://pubmed.ncbi.nlm.nih.gov/22035880/ A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31. MIM:614700 common variable immunodeficiency-8 (CVID8) with autoimmunity disease_ontology DOID:0081151 common variable immunodeficiency 8 DOID:0081151 A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31. url:https://pubmed.ncbi.nlm.nih.gov/25468195/ A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24. MIM:615577 disease_ontology DOID:0081152 common variable immunodeficiency 10 DOID:0081152 A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24. url:https://pubmed.ncbi.nlm.nih.gov/24140114/ A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27. MIM:615767 disease_ontology DOID:0081153 common variable immunodeficiency 11 DOID:0081153 A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27. url:https://pubmed.ncbi.nlm.nih.gov/24746753/ A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24. MIM:616576 disease_ontology DOID:0081154 common variable immunodeficiency 12 DOID:0081154 A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24. url:https://pubmed.ncbi.nlm.nih.gov/32278790/ A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12. MIM:616873 disease_ontology DOID:0081155 common variable immunodeficiency 13 DOID:0081155 A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12. url:https://pubmed.ncbi.nlm.nih.gov/26981933/ disease_ontology url:https://pubmed.ncbi.nlm.nih.gov/26981933/ A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42. MIM:617765 disease_ontology DOID:0081156 common variable immunodeficiency 14 DOID:0081156 A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42. url:https://pubmed.ncbi.nlm.nih.gov/27016798/ A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36. MIM:615373 disease_ontology DOID:0081157 dilated cardiomyopathy 1LL DOID:0081157 A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36. url:https://pubmed.ncbi.nlm.nih.gov/23768516/ A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11. MIM:615396 disease_ontology DOID:0081158 dilated cardiomyopathy 1MM DOID:0081158 A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11. url:https://pubmed.ncbi.nlm.nih.gov/21551322/ A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34. MIM:618189 disease_ontology DOID:0081159 dilated cardiomyopathy 2C DOID:0081159 A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34. url:https://pubmed.ncbi.nlm.nih.gov/29754768/ A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13. MIM:619371 disease_ontology DOID:0081160 dilated cardiomyopathy 2D DOID:0081160 A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13. url:https://pubmed.ncbi.nlm.nih.gov/32514796/ A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13. MIM:619492 disease_ontology DOID:0081161 dilated cardiomyopathy 2E DOID:0081161 A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13. url:https://pubmed.ncbi.nlm.nih.gov/30384889/ url:https://pubmed.ncbi.nlm.nih.gov/31227780/ A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32. MIM:619747 disease_ontology DOID:0081162 dilated cardiomyopathy 2F DOID:0081162 A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32. url:https://pubmed.ncbi.nlm.nih.gov/35044787/ A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31. MIM:619897 disease_ontology DOID:0081163 dilated cardiomyopathy 2G DOID:0081163 A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31. url:https://pubmed.ncbi.nlm.nih.gov/31517052/ A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21. MIM:302045 disease_ontology DOID:0081164 Duplicate of older term. Use 'term replaced by'. [JAB] obsolete dilated cardiomyopathy 3B true DOID:0081164 A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21. url:https://pubmed.ncbi.nlm.nih.gov/3574369/ An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12. GARD:2712 MIM:605911 ORDO:35701 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency disease_ontology DOID:0081168 HMG-CoA synthase 2 deficiency DOID:0081168 An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12. url:https://pubmed.ncbi.nlm.nih.gov/16601895/ url:https://www.ncbi.nlm.nih.gov/articles/PMC5979369/ A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16. MIM:618513 disease_ontology DOID:0081169 Leber congenital amaurosis 19 MIM:618513 DOID:0081169 A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16. url:https://pubmed.ncbi.nlm.nih.gov/3057356/ A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34. MIM:617763 ORDO:494439 disease_ontology DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies DOID:0081175 A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/26843489/ url:https://pubmed.ncbi.nlm.nih.gov/34162742/ A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26. MIM:617330 disease_ontology DOID:0081176 hypotonia, ataxia, and delayed development syndrome DOID:0081176 A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26. url:https://pubmed.ncbi.nlm.nih.gov/28017370/ url:https://pubmed.ncbi.nlm.nih.gov/34367240/ url:https://www.ncbi.nlm.nih.gov/books/NBK570204/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9092656/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25. MIM:249500 disease_ontology DOID:0081177 autosomal recessive intellectual developmental disorder 1 DOID:0081177 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25. url:https://pubmed.ncbi.nlm.nih.gov/12459588/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26. MIM:607417 disease_ontology DOID:0081178 autosomal recessive intellectual developmental disorder 2 DOID:0081178 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26. url:https://pubmed.ncbi.nlm.nih.gov/28143899/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13. MIM:608443 disease_ontology DOID:0081179 autosomal recessive intellectual developmental disorder 3 DOID:0081179 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/16033914/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34. MIM:611090 disease_ontology DOID:0081180 autosomal recessive intellectual developmental disorder 12 DOID:0081180 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34. url:https://pubmed.ncbi.nlm.nih.gov/32666583/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15. MIM:611091 disease_ontology DOID:0081181 autosomal recessive intellectual developmental disorder 5 DOID:0081181 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15. url:https://pubmed.ncbi.nlm.nih.gov/22541559/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16. MIM:611092 disease_ontology DOID:0081182 autosomal recessive intellectual developmental disorder 6 DOID:0081182 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16. url:https://pubmed.ncbi.nlm.nih.gov/25039795/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22. MIM:611093 disease_ontology DOID:0081183 autosomal recessive intellectual developmental disorder 7 DOID:0081183 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22. url:https://pubmed.ncbi.nlm.nih.gov/27148795/ An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 9.1-Mb region on proximal chromosome 14q between SNPs rs10132585 and rs1278951, termed the MRT9 locus. MIM:611095 disease_ontology DOID:0081184 autosomal recessive intellectual developmental disorder 9/26 DOID:0081184 An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 9.1-Mb region on proximal chromosome 14q between SNPs rs10132585 and rs1278951, termed the MRT9 locus. url:https://pubmed.ncbi.nlm.nih.gov/21629298/ An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 21.7-Mb region in the pericentromeric region of chromosome 16 between SNPs rs7197568 and rs7197227, termed the MRT20 locus. MIM:611096 disease_ontology DOID:0081185 autosomal recessive intellectual developmental disorder 10/20 DOID:0081185 An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 21.7-Mb region in the pericentromeric region of chromosome 16 between SNPs rs7197568 and rs7197227, termed the MRT20 locus. url:https://pubmed.ncbi.nlm.nih.gov/21629298/ An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus on chromosome 19q, termed MRT11. Haplotype analysis delineated a 5.4-Mb candidate region between SNPs rs2109075 and rs8101149. MIM:611097 disease_ontology DOID:0081186 autosomal recessive intellectual developmental disorder 11 DOID:0081186 An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus on chromosome 19q, termed MRT11. Haplotype analysis delineated a 5.4-Mb candidate region between SNPs rs2109075 and rs8101149. url:https://pubmed.ncbi.nlm.nih.gov/21063731/ An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus, termed MRT4, on chromosome 1p21.1-p13.3. MIM:611107 disease_ontology DOID:0081187 autosomal recessive intellectual developmental disorder 4 DOID:0081187 An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus, termed MRT4, on chromosome 1p21.1-p13.3. url:https://pubmed.ncbi.nlm.nih.gov/17309643/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13. MIM:614020 disease_ontology DOID:0081188 autosomal recessive intellectual developmental disorder 14 DOID:0081188 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/18446860/ An autosomal recessive intellectual developmental disorder that has_material_basis_in a 23.52-Mb region of homozygosity on chromosome 9p23-p13.3 between rs10738277 and rs12376565, designated MRT16. MIM:614208 disease_ontology DOID:0081189 autosomal recessive intellectual developmental disorder 16 DOID:0081189 An autosomal recessive intellectual developmental disorder that has_material_basis_in a 23.52-Mb region of homozygosity on chromosome 9p23-p13.3 between rs10738277 and rs12376565, designated MRT16. url:https://pubmed.ncbi.nlm.nih.gov/20345473/ An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23. MIM:614249 disease_ontology DOID:0081190 autosomal recessive intellectual developmental disorder 18 DOID:0081190 An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23. url:https://pubmed.ncbi.nlm.nih.gov/25845469/ An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 10.5-Mb region on proximal chromosome 4q between SNPs rs11944876 and rs6551838. MIM:614329 disease_ontology DOID:0081191 autosomal recessive intellectual developmental disorder 31 DOID:0081191 An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 10.5-Mb region on proximal chromosome 4q between SNPs rs11944876 and rs6551838. url:https://pubmed.ncbi.nlm.nih.gov/21063731/ An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a locus on distal chromosome 4q. The interval spanned 52.2 Mb between SNPs rs1426138 and rs2055392. MIM:614333 disease_ontology DOID:0081192 autosomal recessive intellectual developmental disorder 29 DOID:0081192 An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a locus on distal chromosome 4q. The interval spanned 52.2 Mb between SNPs rs1426138 and rs2055392. url:https://pubmed.ncbi.nlm.nih.gov/21063731/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINS gene (LINS1) on chromosome 15q26. MIM:614340 disease_ontology DOID:0081193 autosomal recessive intellectual developmental disorder 27 DOID:0081193 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINS gene (LINS1) on chromosome 15q26. url:https://pubmed.ncbi.nlm.nih.gov/23773660/ An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to chromosome 17p in an interval spanning 5.1 Mb between SNPs rs1367950 and rs1826925. MIM:614341 disease_ontology DOID:0081194 autosomal recessive intellectual developmental disorder 33 DOID:0081194 An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to chromosome 17p in an interval spanning 5.1 Mb between SNPs rs1367950 and rs1826925. url:https://pubmed.ncbi.nlm.nih.gov/21063731/ An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 22-Mb region on proximal chromosome 6q between SNPs rs4612125 and rs285651. MIM:614342 disease_ontology DOID:0081195 autosomal recessive intellectual developmental disorder 30 DOID:0081195 An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 22-Mb region on proximal chromosome 6q between SNPs rs4612125 and rs285651. url:https://pubmed.ncbi.nlm.nih.gov/21629298/ An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 45.6-Mb interval in the pericentromeric region of chromosome 11 between SNPs rs604518 and rs10899421. MIM:614344 disease_ontology DOID:0081196 autosomal recessive intellectual developmental disorder 23 DOID:0081196 An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 45.6-Mb interval in the pericentromeric region of chromosome 11 between SNPs rs604518 and rs10899421. url:https://pubmed.ncbi.nlm.nih.gov/21629298/ An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 16.4-Mb region on chromosome 6p between SNPs rs651733 and rs1508668. MIM:614345 disease_ontology DOID:0081197 autosomal recessive intellectual developmental disorder 24 DOID:0081197 An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 16.4-Mb region on chromosome 6p between SNPs rs651733 and rs1508668. url:https://pubmed.ncbi.nlm.nih.gov/21629298/ An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 19.5-Mb region on chromosome 12q between SNPs rs4760658 and rs1882033. MIM:614346 disease_ontology DOID:0081198 autosomal recessive intellectual developmental disorder 25 DOID:0081198 An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 19.5-Mb region on chromosome 12q between SNPs rs4760658 and rs1882033. url:https://pubmed.ncbi.nlm.nih.gov/21629298/ An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 4.4-Mb region on chromosome 6q between SNPs rs6935718 and rs388609. MIM:614347 disease_ontology DOID:0081199 autosomal recessive intellectual developmental disorder 28 DOID:0081199 An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 4.4-Mb region on chromosome 6q between SNPs rs6935718 and rs388609. url:https://pubmed.ncbi.nlm.nih.gov/21629298/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the CRADD gene on chromosome 12q22. MIM:614499 disease_ontology DOID:0081200 autosomal recessive intellectual developmental disorder 34 DOID:0081200 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the CRADD gene on chromosome 12q22. url:https://pubmed.ncbi.nlm.nih.gov/27773430/ An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 12.2-Mb region on chromosome 17q21.31-q22 between SNPs rs4792947 and rs11079258. MIM:615162 disease_ontology DOID:0081201 autosomal recessive intellectual developmental disorder 35 DOID:0081201 An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 12.2-Mb region on chromosome 17q21.31-q22 between SNPs rs4792947 and rs11079258. url:https://pubmed.ncbi.nlm.nih.gov/20950399/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21. MIM:615493 disease_ontology DOID:0081202 autosomal recessive intellectual developmental disorder 37 DOID:0081202 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21. url:https://pubmed.ncbi.nlm.nih.gov/29302074/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13. MIM:615516 disease_ontology DOID:0081203 autosomal recessive intellectual developmental disorder 38 DOID:0081203 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13. url:https://pubmed.ncbi.nlm.nih.gov/23243086/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12. MIM:615541 disease_ontology DOID:0081204 autosomal recessive intellectual developmental disorder 39 DOID:0081204 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12. url:https://pubmed.ncbi.nlm.nih.gov/23956177/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24. MIM:615599 disease_ontology DOID:0081205 autosomal recessive intellectual developmental disorder 40 DOID:0081205 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24. url:https://pubmed.ncbi.nlm.nih.gov/34474177/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. MIM:615637 disease_ontology DOID:0081206 autosomal recessive intellectual developmental disorder 41 DOID:0081206 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/25847626/ An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays. MIM:615817 disease_ontology DOID:0081207 autosomal recessive intellectual developmental disorder 43 DOID:0081207 An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays. url:https://pubmed.ncbi.nlm.nih.gov/34599609/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25. MIM:615942 disease_ontology DOID:0081208 autosomal recessive intellectual developmental disorder 44 DOID:0081208 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25. url:https://pubmed.ncbi.nlm.nih.gov/32439618/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24. MIM:615979 disease_ontology DOID:0081209 autosomal recessive intellectual developmental disorder 45 DOID:0081209 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24. url:https://pubmed.ncbi.nlm.nih.gov/24623383/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33. MIM:616116 disease_ontology DOID:0081210 autosomal recessive intellectual developmental disorder 46 DOID:0081210 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33. url:https://pubmed.ncbi.nlm.nih.gov/25125150/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43. MIM:616193 disease_ontology DOID:0081211 autosomal recessive intellectual developmental disorder 47 DOID:0081211 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43. url:https://pubmed.ncbi.nlm.nih.gov/25480035/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13. MIM:616269 disease_ontology DOID:0081212 autosomal recessive intellectual developmental disorder 48 DOID:0081212 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13. url:https://pubmed.ncbi.nlm.nih.gov/25704603/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the EDC3 gene on chromosome 15q24. MIM:616460 disease_ontology DOID:0081213 autosomal recessive intellectual developmental disorder 50 DOID:0081213 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the EDC3 gene on chromosome 15q24. url:https://pubmed.ncbi.nlm.nih.gov/25701870/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22. MIM:616739 disease_ontology DOID:0081214 autosomal recessive intellectual developmental disorder 51 DOID:0081214 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22. url:https://pubmed.ncbi.nlm.nih.gov/26206890/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11. MIM:616887 disease_ontology DOID:0081215 autosomal recessive intellectual developmental disorder 52 DOID:0081215 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11. url:https://pubmed.ncbi.nlm.nih.gov/26566883/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26. MIM:617028 disease_ontology DOID:0081216 autosomal recessive intellectual developmental disorder 54 DOID:0081216 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26. url:https://pubmed.ncbi.nlm.nih.gov/27106596/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZC3H14 gene on chromosome 14q31. MIM:617125 disease_ontology DOID:0081217 autosomal recessive intellectual developmental disorder 56 DOID:0081217 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZC3H14 gene on chromosome 14q31. url:https://pubmed.ncbi.nlm.nih.gov/21734151/ An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported. MIM:617169 disease_ontology DOID:0081218 autosomal recessive intellectual developmental disorder 74 DOID:0081218 An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported. url:https://pubmed.ncbi.nlm.nih.gov/33161245/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13. MIM:617188 disease_ontology DOID:0081219 autosomal recessive intellectual developmental disorder 57 DOID:0081219 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/27616480/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12. MIM:617270 disease_ontology DOID:0081220 autosomal recessive intellectual developmental disorder 58 DOID:0081220 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12. url:https://pubmed.ncbi.nlm.nih.gov/33976153/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21. MIM:617323 disease_ontology DOID:0081221 autosomal recessive intellectual developmental disorder 59 DOID:0081221 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21. url:https://pubmed.ncbi.nlm.nih.gov/26416544/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13. MIM:617432 disease_ontology DOID:0081222 autosomal recessive intellectual developmental disorder 60 DOID:0081222 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13. url:https://pubmed.ncbi.nlm.nih.gov/28257693/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23. MIM:617816 Intellectual developmental disorder, autosomal recessive 62 disease_ontology DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 DOID:0081223 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23. url:https://pubmed.ncbi.nlm.nih.gov/27694521/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32. MIM:618095 disease_ontology DOID:0081224 autosomal recessive intellectual developmental disorder 63 DOID:0081224 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32. url:https://pubmed.ncbi.nlm.nih.gov/29784083/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINGO1 gene on chromosome 15q24. MIM:618103 disease_ontology DOID:0081225 autosomal recessive intellectual developmental disorder 64 DOID:0081225 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINGO1 gene on chromosome 15q24. url:https://pubmed.ncbi.nlm.nih.gov/28837161/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32. MIM:618109 disease_ontology DOID:0081226 autosomal recessive intellectual developmental disorder 65 DOID:0081226 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32. url:https://pubmed.ncbi.nlm.nih.gov/29276005/ An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13. MIM:618221 disease_ontology DOID:0081227 autosomal recessive intellectual developmental disorder 66 DOID:0081227 An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13. url:https://pubmed.ncbi.nlm.nih.gov/27311568/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15. MIM:618295 disease_ontology DOID:0081228 autosomal recessive intellectual developmental disorder 67 DOID:0081228 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15. url:https://pubmed.ncbi.nlm.nih.gov/30409806/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13. MIM:618302 disease_ontology DOID:0081229 autosomal recessive intellectual developmental disorder 68 DOID:0081229 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/30289604/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZBTB11 gene on chromosome 3q12. MIM:618383 disease_ontology DOID:0081230 autosomal recessive intellectual developmental disorder 69 DOID:0081230 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZBTB11 gene on chromosome 3q12. url:https://pubmed.ncbi.nlm.nih.gov/29893856/ An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25. MIM:618402 disease_ontology DOID:0081231 autosomal recessive intellectual developmental disorder 70 DOID:0081231 An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25. url:https://pubmed.ncbi.nlm.nih.gov/28640246/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ALKBH8 gene on chromosome 11q22. MIM:618504 disease_ontology DOID:0081232 autosomal recessive intellectual developmental disorder 71 DOID:0081232 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ALKBH8 gene on chromosome 11q22. url:https://pubmed.ncbi.nlm.nih.gov/31079898/ An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11. MIM:619717 disease_ontology DOID:0081233 autosomal recessive intellectual developmental disorder 73 DOID:0081233 An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11. url:https://pubmed.ncbi.nlm.nih.gov/34230638/ An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15. MIM:619827 disease_ontology DOID:0081234 autosomal recessive intellectual developmental disorder 75 DOID:0081234 An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15. url:https://pubmed.ncbi.nlm.nih.gov/34163010/ An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33. MIM:619931 disease_ontology DOID:0081235 autosomal recessive intellectual developmental disorder 76 DOID:0081235 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33. url:https://pubmed.ncbi.nlm.nih.gov/35675825/ An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36. MIM:619988 disease_ontology DOID:0081236 autosomal recessive intellectual developmental disorder 77 DOID:0081236 An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36. url:https://pubmed.ncbi.nlm.nih.gov/34196201/ An acromesomelic dysplasia that is characterized by short stature and shortened limbs with severe distal limb anomalies with rudimentary fingers and toes and that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22. MIM:609441 Demirhan-type acromesomelic dysplasia disease_ontology DOID:0081237 acromesomelic dysplasia 3 DOID:0081237 An acromesomelic dysplasia that is characterized by short stature and shortened limbs with severe distal limb anomalies with rudimentary fingers and toes and that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22. url:https://pubmed.ncbi.nlm.nih.gov/26105076/ An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21. MIM:619636 disease_ontology DOID:0081238 acromesomelic dysplasia 4 DOID:0081238 An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21. url:https://pubmed.ncbi.nlm.nih.gov/33106379/ An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores. injectional anthrax injectional anthrax syndrome disease_ontology DOID:0081239 injection anthrax DOID:0081239 An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores. url:https://pubmed.ncbi.nlm.nih.gov/29533547/ url:https://www.cdc.gov/anthrax/basics/types/index.html A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. MIM:601539 disease_ontology DOID:0081240 peroxisome biogenesis disorder 1B DOID:0081240 A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. url:https://pubmed.ncbi.nlm.nih.gov/22871920/ url:https://pubmed.ncbi.nlm.nih.gov/28523433/ A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. MIM:266510 disease_ontology DOID:0081241 peroxisome biogenesis disorder 3B DOID:0081241 A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. url:https://pubmed.ncbi.nlm.nih.gov/22871920/ A syndrome that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23. MIM:616414 ORDO:444092 Autoimmune interstitial lung disease-arthritis syndrome COPA syndrome disease_ontology DOID:0081242 autoimmune interstitial lung, joint, and kidney disease DOID:0081242 A syndrome that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23. url:https://pubmed.ncbi.nlm.nih.gov/25894502/ url:https://rarediseases.org/rare-diseases/copa-syndrome/ A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency. MIM:616154 ORDO:438178 disease_ontology DOID:0081243 rhizomelic chondrodysplasia punctate type 4 DOID:0081243 A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency. url:https://pubmed.ncbi.nlm.nih.gov/28523433/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471318/ A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations. ICDO:8273/3 NCI:C155304 Pituitary Gland Blastoma disease_ontology DOID:0081244 pituitary blastoma DOID:0081244 A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations. url:https://pubmed.ncbi.nlm.nih.gov/35291028/ A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina. ICDO:8693/3 NCI:C5324 Cauda equina neuroendocrine tumour Spinal neuroendocrine tumors disease_ontology DOID:0081245 Previously known as spinal paragangliomas. cauda equina neuroendocrine tumor DOID:0081245 A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina. url:https://radiopaedia.org/articles/spinal-neuroendocrine-tumour?lang=us A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course. ICDO:9084/3 NCI:C4289 disease_ontology DOID:0081246 teratoma with somatic-type malignancy DOID:0081246 A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874974/ A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. ICDO:9243/3 NCI:C6476 disease_ontology DOID:0081247 dedifferentiated chondrosarcoma DOID:0081247 A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. url:https://pubmed.ncbi.nlm.nih.gov/34734747/ An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. ICDO:9361/1 NCI:C6966 Pinealocytoma Pinealoma disease_ontology DOID:0081248 pineocytoma DOID:0081248 An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. url:https://rarediseases.org/gard-rare-disease/pineocytoma/ A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm. NCI:C165671 EWSR1-Negative Small Blue Round Cell Tumor disease_ontology DOID:0081249 EWSR1-negative small round cell tumor DOID:0081249 A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm. url:https://pubmed.ncbi.nlm.nih.gov/28346326/ An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. ICDO:9367/3 NCI:C120224 Capicua transcriptional repressor (CIC)-rearranged sarcoma disease_ontology DOID:0081250 CIC-rearranged sarcoma DOID:0081250 An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. url:https://pubmed.ncbi.nlm.nih.gov/31288305/ url:https://pubmed.ncbi.nlm.nih.gov/32796172/ url:https://pubmed.ncbi.nlm.nih.gov/33680459/ A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture. ICDO:9395/3 NCI:C92624 Papillary tumour of the pineal region disease_ontology DOID:0081251 papillary tumor of the pineal region DOID:0081251 A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture. url:https://pubmed.ncbi.nlm.nih.gov/29691144/ A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene. ICDO:9396/3 NCI:C186350 disease_ontology DOID:0081252 supratentorial ependymoma, ZFTA fusion–positive DOID:0081252 A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene. url:https://pubmed.ncbi.nlm.nih.gov/33879448/ A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene. ICDO:9396/3 NCI:C186351 disease_ontology DOID:0081253 supratentorial ependymoma, YAP1 fusion–positive DOID:0081253 A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene. url:https://pubmed.ncbi.nlm.nih.gov/33879448/ A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression. ICDO:9396/3 NCI:C186450 Posterior Fossa Ependymoma, Group A (PFA) Posterior fossa group A (PFA) ependymoma disease_ontology DOID:0081254 posterior fossa group A ependymoma DOID:0081254 A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression. url:https://pubmed.ncbi.nlm.nih.gov/29909548/ A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression. ICDO:9396/3 NCI:C186451 Posterior Fossa Ependymoma, Group B (PFB) Posterior fossa group B (PFB) ependymoma disease_ontology DOID:0081255 posterior fossa group B ependymoma DOID:0081255 A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression. url:https://pubmed.ncbi.nlm.nih.gov/33902636/ An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. ICDO:9400/3 NCI:C129271 disease_ontology DOID:0081256 astrocytoma, IDH-mutant, grade 2 DOID:0081256 An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. url:https://pubmed.ncbi.nlm.nih.gov/35902341/ An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. ICDO:9401/3 NCI:C129290 disease_ontology DOID:0081257 astrocytoma, IDH-mutant, grade 3 DOID:0081257 An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. url:https://pubmed.ncbi.nlm.nih.gov/34377594/ A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells. ICDO:9412/1 NCI:C4738 NCI:C9476 Desmoplastic Infantile Astrocytoma desmoplastic infantile ganglioglioma desmoplastic infantile ganglioglioma and desmoplastic infantile astrocytoma disease_ontology DOID:0081259 WHO combines desmophlastic infantile ganglioglioma and desmoplastic infantile astrocytoma. desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma DOID:0081259 A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells. url:https://pubmed.ncbi.nlm.nih.gov/31223403/ url:https://pubmed.ncbi.nlm.nih.gov/35015431/ A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma. ICDO:9421/1 NCI:C185218 disease_ontology DOID:0081260 diffuse low-grade glioma, MAPK pathway–altered DOID:0081260 A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma. url:https://pubmed.ncbi.nlm.nih.gov/35562133/ A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation. ICDO:9431/1 NCI:C92552 disease_ontology DOID:0081261 angiocentric glioma DOID:0081261 A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation. url:https://pubmed.ncbi.nlm.nih.gov/34863434/ An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. KEGG:H02463 MIM:619556 disease_ontology DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies DOID:0081262 An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/34314705/ An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. MIM:617913 NEDMCR syndrome disease_ontology DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities DOID:0081263 An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. url:https://pubmed.ncbi.nlm.nih.gov/35861185/ A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R). disease_ontology DOID:0081264 developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome DOID:0081264 A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R). url:https://pubmed.ncbi.nlm.nih.gov/33474647/ An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22. MIM:618342 IDDBAS disease_ontology DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature DOID:0081265 An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22. url:https://pubmed.ncbi.nlm.nih.gov/31583274/ url:https://pubmed.ncbi.nlm.nih.gov/35144859/ IDDBAS A cortical dysplasia with other brain malformation that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26. MIM:618737 CDCBM15 PAMDDFS complex cortical dysplasia with other brain malformations 15 disease_ontology DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures DOID:0081266 A cortical dysplasia with other brain malformation that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26. url:https://pubmed.ncbi.nlm.nih.gov/31630790/ url:https://pubmed.ncbi.nlm.nih.gov/36078134/ CDCBM15 PAMDDFS An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32. ICD11:4B24 MESH:D006086 MIM:614395 ORDO:39812 GvHD graft versus host disease disease_ontology DOID:0081267 graft-versus-host disease DOID:0081267 An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32. url:https://pubmed.ncbi.nlm.nih.gov/31466596/ url:https://www.ncbi.nlm.nih.gov/books/NBK538235/ GvHD A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33. MIM:265450 disease_ontology DOID:0081268 pulmonary venoocclusive disease 1 DOID:0081268 A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33. url:https://pubmed.ncbi.nlm.nih.gov/18626305/ A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. MIM:234810 FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS disease_ontology DOID:0081269 pulmonary venoocclusive disease 2 DOID:0081269 A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. url:https://pubmed.ncbi.nlm.nih.gov/24292273/ A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21. MIM:607326 disease_ontology DOID:0081270 Smith-McCort dysplasia 1 DOID:0081270 A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21. url:https://pubmed.ncbi.nlm.nih.gov/9295067/ A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. MIM:615222 disease_ontology DOID:0081271 Smith-McCort dysplasia 2 DOID:0081271 A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. url:https://pubmed.ncbi.nlm.nih.gov/23042644/ A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. MIM:618804 disease_ontology DOID:0081272 Sandestig-Stefanova syndrome DOID:0081272 A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/32021605/ url:https://pubmed.ncbi.nlm.nih.gov/36158057/ A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. MIM:618635 disease_ontology DOID:0081273 Siddiqi syndrome DOID:0081273 A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. url:https://pubmed.ncbi.nlm.nih.gov/28067622/ url:https://pubmed.ncbi.nlm.nih.gov/30214770/ url:https://pubmed.ncbi.nlm.nih.gov/35754111/ A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21. MIM:614920 disease_ontology DOID:0081274 peroxisome biogenesis disorder 14B DOID:0081274 A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21. url:https://pubmed.ncbi.nlm.nih.gov/22581968/ url:https://pubmed.ncbi.nlm.nih.gov/31724321/ An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. MIM:620094 NEDEMA disease_ontology DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia DOID:0081275 An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. url:https://pubmed.ncbi.nlm.nih.gov/36206744/ NEDEMA A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36. MIM:616875 ORDO:480898 CAVIPMR disease_ontology DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation DOID:0081276 A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36. url:https://disorders.eyes.arizona.edu/disorders/cerebellar-atrophy-visual-impairment-and-psychomotor-retardation url:https://pubmed.ncbi.nlm.nih.gov/26942288/ url:https://pubmed.ncbi.nlm.nih.gov/29271071/ url:https://pubmed.ncbi.nlm.nih.gov/35234901/ CAVIPMR A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations. ICDO:9385/3 NCI:C185467 UMLS_CUI:C5669918 diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype disease_ontology DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype DOID:0081277 A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations. url:https://pubmed.ncbi.nlm.nih.gov/34858308/ A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood. ICDO:9385/3 NCI:C185471 disease_ontology DOID:0081278 infant-type hemispheric glioma DOID:0081278 A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood. url:https://pubmed.ncbi.nlm.nih.gov/35404193/ url:https://pubmed.ncbi.nlm.nih.gov/36315913/ url:https://pubmed.ncbi.nlm.nih.gov/36316040/ A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1. ICDO:9421/1 NCI:C185196 UMLS_CUI:C5575348 UMLS_CUI:C5575349 disease_ontology DOID:0081279 diffuse astrocytoma, MYB- or MYBL1-altered DOID:0081279 A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1. url:https://pubmed.ncbi.nlm.nih.gov/35015431/ A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. ICDO:9432/1 NCI:C94524 disease_ontology DOID:0081280 pituicytoma DOID:0081280 A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. url:https://en.wikipedia.org/wiki/Pituicytoma url:https://pubmed.ncbi.nlm.nih.gov/36057248/ url:https://pubmed.ncbi.nlm.nih.gov/36180358/ An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis). ICDO:9450/3 disease_ontology DOID:0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 DOID:0081281 An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis). url:https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. ICDO:9451/3 disease_ontology DOID:0081282 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 DOID:0081282 An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. url:https://www.abta.org/tumor_types/oligodendroglioma/ url:https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. ICDO:9509/1 NCI:C92554 Papillary glioneuronal tumour disease_ontology DOID:0081283 papillary glioneuronal tumor DOID:0081283 A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. url:https://pubmed.ncbi.nlm.nih.gov/35854961/ A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. ICDO:9509/1 NCI:C129431 RGNT Rosette-forming glioneuronal tumour disease_ontology DOID:0081284 rosette-forming glioneuronal tumor DOID:0081284 A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. url:https://pubmed.ncbi.nlm.nih.gov/36230557/ RGNT A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. ICDO:9509/1 NCI:C179229 Myxoid glioneuronal tumour disease_ontology DOID:0081285 myxoid glioneuronal tumor DOID:0081285 A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. url:https://pubmed.ncbi.nlm.nih.gov/34297434/ A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation. ICDO:9478/3 NCI:C186534 Embryonal tumour with multilayered rosettes disease_ontology DOID:0081286 embryonal tumor with multilayered rosettes DOID:0081286 A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation. url:https://pubmed.ncbi.nlm.nih.gov/36451902/ A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13. MIM:193900 disease_ontology DOID:0081287 white sponge nevus 1 DOID:0081287 A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/7493030/ A white sponge nevus that has_material_basis_in heterozygous mutation in the KRT13 gene on chromosome 17q21. MIM:615785 disease_ontology DOID:0081288 white sponge nevus 2 DOID:0081288 A white sponge nevus that has_material_basis_in heterozygous mutation in the KRT13 gene on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/14600690/ A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period. GARD:5826 Antley Bixler syndrome Antley and Bixler's syndrome disease_ontology DOID:0081289 Antley-Bixler syndrome DOID:0081289 A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period. url:https://rarediseases.org/rare-diseases/antley-bixler-syndrome/ An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome. MIM:207410 disease_ontology DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis DOID:0081290 An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome. url:https://pubmed.ncbi.nlm.nih.gov/15793702/ A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves. disease_ontology DOID:0081291 chronic traumatic encephalopathy DOID:0081291 A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves. url:https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-021-01189-4 url:https://pubmed.ncbi.nlm.nih.gov/33621530/ url:https://www.nature.com/articles/s41586-019-1026-5 A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head. disease_ontology DOID:0081292 traumatic brain injury DOID:0081292 A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head. url:https://www.ncbi.nlm.nih.gov/books/NBK459300/ A mucoepidermoid carcinoma located_in the salivary gland. NCI:C5908 disease_ontology DOID:0081293 salivary gland mucoepidermoid carcinoma DOID:0081293 A mucoepidermoid carcinoma located_in the salivary gland. url:https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. MIM:603472 disease_ontology DOID:0081294 neuronal intranuclear inclusion disease DOID:0081294 A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. url:https://pubmed.ncbi.nlm.nih.gov/27797808/ An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. MIM:618866 disease_ontology DOID:0081295 essential tremor 6 DOID:0081295 An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. url:https://pubmed.ncbi.nlm.nih.gov/31819945/ A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. GARD:12592 MIM:PS164310 ORDO:98897 disease_ontology DOID:0081296 oculopharyngodistal myopathy DOID:0081296 A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. url:https://jnnp.bmj.com/content/75/10/1499 An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. MIM:164310 disease_ontology DOID:0081297 oculopharyngodistal myopathy 1 DOID:0081297 An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. url:https://pubmed.ncbi.nlm.nih.gov/31332380/ An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13. MIM:618940 disease_ontology DOID:0081298 oculopharyngodistal myopathy 2 DOID:0081298 An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/32413282/ An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21. MIM:619473 disease_ontology DOID:0081299 oculopharyngodistal myopathy 3 DOID:0081299 An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21. url:https://pubmed.ncbi.nlm.nih.gov/33693509/ An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene on chromosome 12q24. MIM:619790 disease_ontology DOID:0081300 oculopharyngodistal myopathy 4 DOID:0081300 An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene on chromosome 12q24. url:https://pubmed.ncbi.nlm.nih.gov/35148830/ A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22. MIM:620086 IDDOF MTSS2-related neurodevelopmental disorder disease_ontology DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features DOID:0081301 A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22. url:https://pubmed.ncbi.nlm.nih.gov/36067766/ IDDOF A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma. ICDO:9509/3 NCI:C129424 Diffuse leptomeningeal glioneuronal tumour disease_ontology DOID:0081302 diffuse leptomeningeal glioneuronal tumor DOID:0081302 A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma. url:https://radiopaedia.org/articles/diffuse-leptomeningeal-glioneuronal-tumour?lang=us A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres. ICDO:9509/0 NCI:C129427 disease_ontology DOID:0081303 multinodular and vacuolating neuronal tumor DOID:0081303 A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres. url:https://radiopaedia.org/articles/multinodular-and-vacuolating-neuronal-tumour-1?lang=us An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa. ICDO:9421/3 NCI:C185879 disease_ontology DOID:0081304 high-grade astrocytoma with piloid features DOID:0081304 An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa. url:https://radiopaedia.org/articles/high-grade-astrocytoma-with-piloid-features-1?lang=us url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8131327/ A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy. ICDO:9413/0 NCI:C180378 UMLS_CUI:C5556330 Massively Calcified Low Grade Glioma Polymorphous low-grade neuroepithelial tumour of the young disease_ontology DOID:0081305 polymorphous low grade neuroepithelial tumour of the young DOID:0081305 A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy. url:https://journals.sagepub.com/doi/full/10.1177/20363613221083360 A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles. ICDO:8290/0 NCI:C94537 disease_ontology DOID:0081306 spindle cell oncocytoma DOID:0081306 A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486883/ A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues. ICD10CM:C83.8 ICDO:9766/1 MESH:D008230 NCI:C7930 SNOMEDCT_US_2023_03_01:60337005 UMLS_CUI:C0024307 disease_ontology DOID:0081307 lymphomatoid granulomatosis DOID:0081307 A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues. url:https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/ A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen. ICDO:9766/1 NCI:C7931 UMLS_CUI:C0279065 disease_ontology DOID:0081308 grade I lymphomatoid granulomatosis DOID:0081308 A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen. url:https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen. ICDO:9766/1 disease_ontology DOID:0081309 grade II lymphomatoid granulomatosis DOID:0081309 A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen. url:https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive. ICDO:9766/3 disease_ontology DOID:0081310 grade III lymphomatoid granulomatosis DOID:0081310 A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive. url:https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources A large B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries. ICDO:9712/3 NCI:C4342 disease_ontology DOID:0081311 intravascular large B-cell lymphoma DOID:0081311 A large B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries. url:https://ashpublications.org/blood/article/132/15/1561/39314/Intravascular-large-B-cell-lymphoma-a-chameleon A non-Hodgkin lymphoma of T-cell lineage. ICDO:9702/3 MESH:D016399 NCI:C3466 SNOMEDCT_US_2023_03_01:3172003 UMLS_CUI:C0079772 disease_ontology DOID:0081312 T-cell non-Hodgkin lymphoma DOID:0081312 A non-Hodgkin lymphoma of T-cell lineage. url:https://www.cancer.org/cancer/non-hodgkin-lymphoma/treating/t-cell-lymphoma.html A diffuse large B-cell lymphoma arising from the central nervous system. ICDO:9680/3 NCI:C71720 SNOMEDCT_US_2023_03_01:734066005 UMLS_CUI:C2026186 disease_ontology DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system DOID:0081313 A diffuse large B-cell lymphoma arising from the central nervous system. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840863/ A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles. ICDO:9506/1 NCI:C92555 disease_ontology DOID:0081314 extraventricular neurocytoma DOID:0081314 A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles. url:https://pubmed.ncbi.nlm.nih.gov/24357019/ A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene. ICDO:9500/3 NCI:C186556 UMLS_CUI:C5670630 CNS tumour with BCOR internal tandem duplication disease_ontology DOID:0081315 central nervous system tumor with BCOR internal tandem duplication DOID:0081315 A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene. url:https://pubmed.ncbi.nlm.nih.gov/35809497/ A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene. ICDO:9480/3 NCI:C186610 disease_ontology DOID:0081316 primary intracranial sarcoma, DICER1-mutant DOID:0081316 A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene. url:https://pubmed.ncbi.nlm.nih.gov/35789272/ A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. GARD:3836 MIM:186500 disease_ontology DOID:0081317 multiple synostoses syndrome 1 DOID:0081317 A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. url:https://pubmed.ncbi.nlm.nih.gov/11846737/ A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. GARD:9916 MIM:610017 disease_ontology DOID:0081318 multiple synostoses syndrome 2 DOID:0081318 A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. url:https://pubmed.ncbi.nlm.nih.gov/16532400/ A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12. MIM:612961 disease_ontology DOID:0081319 multiple synostoses syndrome 3 DOID:0081319 A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12. url:https://pubmed.ncbi.nlm.nih.gov/28730625/ A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. MIM:617898 disease_ontology DOID:0081320 multiple synostoses syndrome 4 DOID:0081320 A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. url:https://pubmed.ncbi.nlm.nih.gov/29130651/ A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13. MIM:178110 ORDO:65743 Autosomal dominant multiple pterygium syndrome disease_ontology DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A DOID:0081321 A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13. url:https://pubmed.ncbi.nlm.nih.gov/29805041/ A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13. GARD:7111 MIM:618469 ORDO:2990 Autosomal recessive multiple pterygium syndrome disease_ontology DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B DOID:0081322 A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13. url:https://pubmed.ncbi.nlm.nih.gov/29805041/ A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. disease_ontology DOID:0081323 breast implant illness DOID:0081323 A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. url:https://www.fda.gov/medical-devices/breast-implants/medical-device-reports-systemic-symptoms-women-breast-implants url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9060741/ An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32. MIM:620071 NEDGTH disease_ontology DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss DOID:0081324 An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32. url:https://pubmed.ncbi.nlm.nih.gov/35861243/ NEDGTH A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26. MIM:615369 disease_ontology DOID:0081325 developmental and epileptic encephalopathy 94 DOID:0081325 A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26. url:https://pubmed.ncbi.nlm.nih.gov/23708187/ An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13. GARD:617 MIM:203740 ORDO:31 Oxoglutaric aciduria alpha-ketoglutarate dehydrogenase deficiency disease_ontology DOID:0081326 oxoglutarate dehydrogenase deficiency DOID:0081326 An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13. url:https://pubmed.ncbi.nlm.nih.gov/32383294/ A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24. MIM:618088 NEDAMSS disease_ontology DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures DOID:0081327 A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24. url:https://pubmed.ncbi.nlm.nih.gov/30057031/ url:https://pubmed.ncbi.nlm.nih.gov/30166628/ url:https://rarediseases.org/gard-rare-disease/irf2bpl-related-disorders/ url:https://www.bcm.edu/news/wnt-signaling-is-identified-as-a-target-in-nedamss-disorder url:https://www.childneurologyfoundation.org/disorder/irf2bpl/ NEDAMSS A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23. MIM:620211 disease_ontology DOID:0081328 familial hyperinsulinemic hypoglycemia 8 DOID:0081328 A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23. url:https://pubmed.ncbi.nlm.nih.gov/34971397/ A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. ICD10CM:E74.01 MESH:D005953 NCI:C84733 ORDO:364 SNOMEDCT_US_2023_03_01:7265005 UMLS_CUI:C0017920 Glycogen storage disease 1 deficiency of glucose-6-phosphatase glycogen storage disease type I glycogenosis type I von Gierke disease von Gierke's disease disease_ontology DOID:0081329 glycogen storage disease I DOID:0081329 A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. url:https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I url:https://www.ncbi.nlm.nih.gov/books/NBK1312/ url:https://www.omim.org/entry/232200#33 A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. MIM:232220 disease_ontology DOID:0081330 glycogen storage disease Ib DOID:0081330 A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. url:https://pubmed.ncbi.nlm.nih.gov/31536830/ A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib. MIM:232240 disease_ontology DOID:0081331 glycogen storage disease Ic DOID:0081331 A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib. url:https://pubmed.ncbi.nlm.nih.gov/10598822/ A syndrome that is characterized by the premature onset of age-related pathologies. MIM:PS176670 progeroid disease progeroid syndromes disease_ontology DOID:0081332 progeroid syndrome DOID:0081332 A syndrome that is characterized by the premature onset of age-related pathologies. url:https://pubmed.ncbi.nlm.nih.gov/34272172/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958309/ A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22. GARD:330 MIM:264090 ORDO:3455 Neonatal progeroid syndrome PROGEROID SYNDROME, NEONATAL disease_ontology DOID:0081333 Wiedemann-Rautenstrauch syndrome DOID:0081333 A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22. url:https://medlineplus.gov/genetics/condition/wiedemann-rautenstrauch-syndrome/ url:https://pubmed.ncbi.nlm.nih.gov/23696134/ A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age. GARD:11008 MIM:614008 ORDO:280576 Progeria syndrome, childhood-onset, with osteolysis disease_ontology DOID:0081334 Nestor-Guillermo progeria syndrome DOID:0081334 A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age. url:https://pubmed.ncbi.nlm.nih.gov/32783369/ A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. MIM:255300 MIM:255700 disease_ontology DOID:0081335 Becker disease MIM:255700 DOID:0081335 A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. url:https://pubmed.ncbi.nlm.nih.gov/8301644/ A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. MIM:160800 Congenital myotonia, autosomal dominant form Thomsen's disease disease_ontology DOID:0081336 Thomsen disease DOID:0081336 A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. url:https://pubmed.ncbi.nlm.nih.gov/11840191/ A myopathy that is characterized by hypotonia and weakness, usually present from birth. disease_ontology DOID:0081337 congenital myopathy DOID:0081337 A myopathy that is characterized by hypotonia and weakness, usually present from birth. url:https://ijponline.biomedcentral.com/articles/10.1186/s13052-017-0419-z A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the UNC45B gene on chromosome 17q11. MIM:619178 disease_ontology DOID:0081338 myofibrillar myopathy 11 DOID:0081338 A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the UNC45B gene on chromosome 17q11. url:https://pubmed.ncbi.nlm.nih.gov/33217308/ A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42. MIM:620265 disease_ontology DOID:0081339 congenital myopathy 2B DOID:0081339 A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42. url:https://pubmed.ncbi.nlm.nih.gov/25182138/ A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B). MIM:620278 disease_ontology DOID:0081340 congenital myopathy 2C DOID:0081340 A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B). url:https://pubmed.ncbi.nlm.nih.gov/34561123/ A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31. MIM:611705 ORDO:289377 Salih myopathy congenital myopathy-5 with cardiomyopathy disease_ontology DOID:0081341 congenital myopathy 5 DOID:0081341 A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31. url:https://pubmed.ncbi.nlm.nih.gov/24105469/ A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the ACTN2 gene on chromosome 1q43. Heterozygous mutation in the ACTN2 gene can also cause distal myopathy-6 (MPD6), which shows later onset and is less severe. MIM:618654 disease_ontology DOID:0081342 congenital myopathy 8 DOID:0081342 A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the ACTN2 gene on chromosome 1q43. Heterozygous mutation in the ACTN2 gene can also cause distal myopathy-6 (MPD6), which shows later onset and is less severe. url:https://pubmed.ncbi.nlm.nih.gov/30701273/ A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. MIM:618822 disease_ontology DOID:0081343 congenital myopathy 9A DOID:0081343 A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. url:https://pubmed.ncbi.nlm.nih.gov/30770808/ A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A. MIM:618823 disease_ontology DOID:0081344 congenital myopathy 9B DOID:0081344 A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A. url:https://pubmed.ncbi.nlm.nih.gov/30770808/ A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features. MIM:620249 disease_ontology DOID:0081345 congenital myopathy 10B DOID:0081345 A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features. url:https://pubmed.ncbi.nlm.nih.gov/29128256/ A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time. MIM:618414 ORDO:544602 disease_ontology DOID:0081346 congenital myopathy 14 DOID:0081346 A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time. url:https://pubmed.ncbi.nlm.nih.gov/30215711/ A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding. MIM:620161 disease_ontology DOID:0081347 congenital myopathy 15 DOID:0081347 A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding. url:https://pubmed.ncbi.nlm.nih.gov/33755597/ A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. MIM:618524 disease_ontology DOID:0081348 congenital myopathy 16 DOID:0081348 A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. url:https://pubmed.ncbi.nlm.nih.gov/31025394/ A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15. MIM:618975 disease_ontology DOID:0081349 congenital myopathy 17 DOID:0081349 A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15. url:https://pubmed.ncbi.nlm.nih.gov/30403323/ A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32. MIM:620246 disease_ontology DOID:0081350 congenital myopathy 18 DOID:0081350 A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32. url:https://pubmed.ncbi.nlm.nih.gov/33060286/ url:https://pubmed.ncbi.nlm.nih.gov/34763287/ A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36. MIM:618578 disease_ontology DOID:0081351 congenital myopathy 19 DOID:0081351 A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36. url:https://pubmed.ncbi.nlm.nih.gov/31092906/ A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. MIM:620310 disease_ontology DOID:0081352 congenital myopathy 20 DOID:0081352 A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. url:https://pubmed.ncbi.nlm.nih.gov/29498452/ url:https://pubmed.ncbi.nlm.nih.gov/31230720/ A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. MIM:620326 disease_ontology DOID:0081353 congenital myopathy 21 DOID:0081353 A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. url:https://pubmed.ncbi.nlm.nih.gov/36264506/ url:https://pubmed.ncbi.nlm.nih.gov/36344539/ A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. MIM:620351 disease_ontology DOID:0081354 congenital myopathy 22A DOID:0081354 A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. url:https://pubmed.ncbi.nlm.nih.gov/26700687/ A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. MIM:620369 disease_ontology DOID:0081355 congenital myopathy 22B DOID:0081355 A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. url:https://pubmed.ncbi.nlm.nih.gov/26700687/ A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. MIM:615048 ORDO:276435 disease_ontology DOID:0081356 spinal muscular atrophy, Jokela type DOID:0081356 A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. url:https://pubmed.ncbi.nlm.nih.gov/36158221/ url:https://www.ncbi.nlm.nih.gov/books/NBK304142/ A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. MIM:616209 ORDO:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance disease_ontology DOID:0081357 isolated mitochondrial myopathy DOID:0081357 A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. url:https://pubmed.ncbi.nlm.nih.gov/35700042/ An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. MIM:113800 ORDO:312 disease_ontology DOID:0081358 epidermolytic hyperkeratosis 1 DOID:0081358 An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/11531804/ An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21. MIM:620150 disease_ontology DOID:0081359 epidermolytic hyperkeratosis 2 DOID:0081359 An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/19474805/ A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele. MIM:612900 disease_ontology DOID:0081360 spastic quadriplegic cerebral palsy 2 DOID:0081360 A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele. url:https://pubmed.ncbi.nlm.nih.gov/16301218/ A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24. MIM:617008 CPSQ3 disease_ontology DOID:0081361 spastic quadriplegic cerebral palsy 3 DOID:0081361 A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24. url:https://pubmed.ncbi.nlm.nih.gov/23836506/ CPSQ3 An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26. MIM:602342 ORDO:487825 Plantar lipomatosis-facial dysmorphism-developmental delay syndrome Plantar lipomatosis-unusual facies-developmental delay syndrome disease_ontology DOID:0081362 Pierpont syndrome DOID:0081362 An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26. url:https://pubmed.ncbi.nlm.nih.gov/26769062/ url:https://www.ncbi.nlm.nih.gov/articles/PMC8077337/ A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35. MIM:617158 ORDO:602 disease_ontology DOID:0081363 distal myopathy with rimmed vacuoles DOID:0081363 A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35. url:https://pubmed.ncbi.nlm.nih.gov/25114083/ url:https://pubmed.ncbi.nlm.nih.gov/26208961/ url:https://pubmed.ncbi.nlm.nih.gov/33125541/ url:https://pubmed.ncbi.nlm.nih.gov/37188302/ url:https://pubmed.ncbi.nlm.nih.gov/37205240/ A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35. MIM:617145 disease_ontology DOID:0081364 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset DOID:0081364 A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35. url:https://pubmed.ncbi.nlm.nih.gov/27545679/ A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21. MIM:602080 Paget disease of bone-2 disease_ontology DOID:0081365 Paget's disease of bone 2 DOID:0081365 A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21. url:https://pubmed.ncbi.nlm.nih.gov/24988994/ A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35. MIM:167250 Paget disease of bone-3 disease_ontology DOID:0081366 Paget's disease of bone 3 DOID:0081366 A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35. url:https://pubmed.ncbi.nlm.nih.gov/24988994/ A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972. MIM:606263 Paget disease of bone-4 disease_ontology DOID:0081367 Paget's disease of bone 4 DOID:0081367 A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972. url:https://pubmed.ncbi.nlm.nih.gov/11473345/ A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. GARD:2831 MIM:239000 ORDO:2801 Familial osteoectasia Hereditary hyperphosphatasia Hyperostosis corticalis deformans juvenilis Juvenile Paget disease Paget disease of bone-5 disease_ontology DOID:0081368 Paget's disease of bone 5 DOID:0081368 A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. url:https://pubmed.ncbi.nlm.nih.gov/25108083/ A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21. MIM:616833 Paget disease of bone-6 disease_ontology DOID:0081369 Paget's disease of bone 6 DOID:0081369 A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21. url:https://pubmed.ncbi.nlm.nih.gov/26849110/ A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers. MIM:PS149730 ORDO:2363 Lacrimo-auriculo-dento-digital (LADD) syndrome lacrimoauriculodentodigital syndrome disease_ontology DOID:0081370 LADD syndrome DOID:0081370 A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers. url:https://medlineplus.gov/genetics/condition/lacrimo-auriculo-dento-digital-syndrome/ A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments. MIM:620192 Lacrimo-auriculo-dento-digital syndrome 2 disease_ontology DOID:0081371 lacrimoauriculodentodigital syndrome 2 DOID:0081371 A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments. url:https://pubmed.ncbi.nlm.nih.gov/16501574/ A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. MIM:620193 Lacrimo-auriculo-dento-digital syndrome 3 disease_ontology DOID:0081372 lacrimoauriculodentodigital syndrome 3 DOID:0081372 A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. url:https://pubmed.ncbi.nlm.nih.gov/16630169/ A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone. disabling pansclerotic morphea of childhood disease_ontology DOID:0081373 disabling pansclerotic morphea DOID:0081373 A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone. url:https://pubmed.ncbi.nlm.nih.gov/30838436/ url:https://pubmed.ncbi.nlm.nih.gov/37256972/ A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. MIM:620386 disease_ontology DOID:0081374 nemaline myopathy 5B DOID:0081374 A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. url:https://pubmed.ncbi.nlm.nih.gov/35165004/ A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13. MIM:620389 disease_ontology DOID:0081375 nemaline myopathy 5C DOID:0081375 A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/35510366/ A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. DOID:0081427 disease_ontology DOID:0081376 obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy true DOID:0081376 A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. url:https://pubmed.ncbi.nlm.nih.gov/32367058/ A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. GARD:48 ORDO:254905 UMLS_CUI:C5779825 Isolated cytochrome C oxidase deficiency disease_ontology DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy DOID:0081377 A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. url:https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33. MIM:617892 disease_ontology DOID:0081378 amyotrophic lateral sclerosis type 24 DOID:0081378 An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33. url:https://pubmed.ncbi.nlm.nih.gov/26945885/ An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively). MIM:617921 disease_ontology DOID:0081379 amyotrophic lateral sclerosis type 25 DOID:0081379 An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively). url:https://pubmed.ncbi.nlm.nih.gov/29566793/ An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13. MIM:619133 disease_ontology DOID:0081380 amyotrophic lateral sclerosis type 26 DOID:0081380 An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13. url:https://pubmed.ncbi.nlm.nih.gov/28817800/ An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. MIM:620285 disease_ontology DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 DOID:0081381 An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. url:https://pubmed.ncbi.nlm.nih.gov/34059824/ An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. MIM:620452 disease_ontology DOID:0081382 amyotrophic lateral sclerosis type 28 DOID:0081382 An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. url:https://pubmed.ncbi.nlm.nih.gov/37339631/ An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. GARD:13111 MIM:616267 ORDO:459033 disease_ontology DOID:0081383 ataxia-oculomotor apraxia type 4 DOID:0081383 An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/25728773/ An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21. MIM:604391 ORDO:251347 disease_ontology DOID:0081384 ataxia-telangiectasia-like disorder-1 DOID:0081384 An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21. url:https://pubmed.ncbi.nlm.nih.gov/10612394/ An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12. MIM:615919 ORDO:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome disease_ontology DOID:0081385 ataxia-telangiectasia-like disorder-2 DOID:0081385 An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12. url:https://pubmed.ncbi.nlm.nih.gov/24911150/ A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. GARD:13423 MIM:616878 ORDO:480864 TANGO2 deficiency metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration disease_ontology DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias DOID:0081386 A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. url:https://pubmed.ncbi.nlm.nih.gov/26805782/ url:https://www.ncbi.nlm.nih.gov/books/NBK476443/ An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36. MIM:620428 disease_ontology DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities DOID:0081387 An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36. url:https://pubmed.ncbi.nlm.nih.gov/37054711/ A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. GARD:8541 ORDO:95432 disease_ontology DOID:0081388 primary progressive aphasia DOID:0081388 A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. url:https://pubmed.ncbi.nlm.nih.gov/21325651/ url:https://pubmed.ncbi.nlm.nih.gov/29392464/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993834/ A primary progressive aphasia that is characterized by language disturbance, including difficulty making or understanding speech. It is a type of primary progressive aphasia. Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers. GARD:10791 ORDO:250831 Logopenic primary progressive aphasia logopenic variant PPA disease_ontology DOID:0081389 logopenic progressive aphasia DOID:0081389 A primary progressive aphasia that is characterized by language disturbance, including difficulty making or understanding speech. It is a type of primary progressive aphasia. Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers. url:https://pubmed.ncbi.nlm.nih.gov/21325651/ A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech. GARD:10793 ORDO:100070 Agramatic variant of primary progressive aphasia nonfluent agrammatic PPA disease_ontology DOID:0081390 progressive non-fluent aphasia DOID:0081390 A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech. url:https://pubmed.ncbi.nlm.nih.gov/32047619/ A primary progressive aphasia that is characterized by the progressive, amodal and profound loss of semantic knowledge and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. GARD:10792 ORDO:100069 semantic variant PPA semantic variant of primary progressive aphasia disease_ontology DOID:0081391 semantic dementia DOID:0081391 A primary progressive aphasia that is characterized by the progressive, amodal and profound loss of semantic knowledge and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. url:https://pubmed.ncbi.nlm.nih.gov/28019640/ A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities. ORDO:454887 disease_ontology DOID:0081392 corticobasal degeneration syndrome DOID:0081392 A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities. url:https://pubmed.ncbi.nlm.nih.gov/34316603/ An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits. organophosphate induced delayed polyneuropathy disease_ontology DOID:0081393 organophosphate-induced delayed polyneuropathy DOID:0081393 An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits. url:https://www.atsdr.cdc.gov/csem/cholinesterase-inhibitors/neuropathy.html url:https://www.ncbi.nlm.nih.gov/pubmed/16042503 A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease. GARD:6002 disease_ontology DOID:0081394 Caroli syndrome DOID:0081394 A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease. url:https://pubmed.ncbi.nlm.nih.gov/29643536/ url:https://pubmed.ncbi.nlm.nih.gov/30020679/ url:https://www.ncbi.nlm.nih.gov/books/NBK513307/ A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. MIM:617183 ORDO:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome disease_ontology DOID:0081395 Harel-Yoon syndrome DOID:0081395 A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. url:https://pubmed.ncbi.nlm.nih.gov/27640307/ A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. MIM:618810 ORDO:615983 PHRINL syndrome disease_ontology DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome DOID:0081396 A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. url:https://pubmed.ncbi.nlm.nih.gov/28549128/ A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. MIM:619033 disease_ontology DOID:0081397 Vissers-Bodmer syndrome DOID:0081397 A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. url:https://pubmed.ncbi.nlm.nih.gov/32553196/ A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. MIM:618500 holoprosencephaly-12 with or without pancreatic agenesis disease_ontology DOID:0081398 holoprosencephaly 12 DOID:0081398 A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. url:https://pubmed.ncbi.nlm.nih.gov/31006510/ An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23. MIM:620080 disease_ontology DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 DOID:0081399 An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23. url:https://pubmed.ncbi.nlm.nih.gov/31978608/ An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. MIM:620528 disease_ontology DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 DOID:0081400 An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/33206935/ An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12. MIM:619112 disease_ontology DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 DOID:0081401 An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12. url:https://pubmed.ncbi.nlm.nih.gov/20806400/ A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations. ICDO:9368/3 NCI:C178465 BCOR-Rearranged Sarcoma disease_ontology DOID:0081402 sarcoma with BCOR genetic alterations DOID:0081402 A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations. url:https://pubmed.ncbi.nlm.nih.gov/35730501/ url:https://pubmed.ncbi.nlm.nih.gov/36202860/ A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication. NCI:C178468 disease_ontology DOID:0081403 BCOR ITD sarcoma DOID:0081403 A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication. url:https://pubmed.ncbi.nlm.nih.gov/36202860/ A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene. NCI:C178466 disease_ontology DOID:0081404 BCOR-CCNB3 sarcoma DOID:0081404 A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene. url:https://pubmed.ncbi.nlm.nih.gov/36202860/ A sarcoma with BCOR genetic alterations that occurs during childhood. NCI:C189007 disease_ontology DOID:0081405 childhood sarcoma with BCOR genetic alterations DOID:0081405 A sarcoma with BCOR genetic alterations that occurs during childhood. url:https://pubmed.ncbi.nlm.nih.gov/36202860/ A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family. ICDO:9366/3 NCI:C178459 Ewing-Like Sarcoma or Round Cell Sarcoma Round Cell Sarcoma with EWSR1::non-ETS Fusion disease_ontology DOID:0081406 round cell sarcoma with EWSR1-non-ETS fusion DOID:0081406 A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family. url:https://pubmed.ncbi.nlm.nih.gov/35430129/ A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood. NCI:C189003 disease_ontology DOID:0081407 childhood round cell sarcoma with EWSR1-non-ETS fusion DOID:0081407 A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood. url:https://pubmed.ncbi.nlm.nih.gov/36202860/ A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion. NCI:C178460 disease_ontology DOID:0081408 round cell sarcoma with EWSR1-NFATC2 gene fusion DOID:0081408 A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion. url:https://pubmed.ncbi.nlm.nih.gov/35430129/ A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion. NCI:C178461 disease_ontology DOID:0081409 round cell sarcoma with EWSR1-PATZ1 gene fusion DOID:0081409 A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion. url:https://pubmed.ncbi.nlm.nih.gov/30379650/ A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion. NCI:C178462 disease_ontology DOID:0081410 round cell sarcoma with FUS-NFATC2 gene fusion DOID:0081410 A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion. url:https://pubmed.ncbi.nlm.nih.gov/31078563/ A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation. ICDO:9811/3 NCI:C199260 B acute lymphoblastic leukemia with PAX5 P80R mutation B-lymphoblastic leukaemia with PAX5 p.P80R B-lymphoblastic leukemia with PAX5 P80R disease_ontology DOID:0081411 B-lymphoblastic leukemia with PAX5 p.P80R ICDO:9811/3 DOID:0081411 A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation. url:https://pubmed.ncbi.nlm.nih.gov/30510083/ url:https://pubmed.ncbi.nlm.nih.gov/32463891/ url:https://pubmed.ncbi.nlm.nih.gov/36241730/ A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement. ICDO:9811/3 NCI:C199232 B acute lymphoblastic leukemia with DUX4 rearrangement B-lymphoblastic leukaemia with DUX4 rearrangement disease_ontology DOID:0081412 B-lymphoblastic leukemia with DUX4 rearrangement ICDO:9811/3 DOID:0081412 A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement. url:https://pubmed.ncbi.nlm.nih.gov/36602820/ A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors. ICDO:8311/3 NCI:C154494 MiT Family Translocation-Associated Renal Cell Carcinoma MiT family translocation renal cell carcinoma disease_ontology DOID:0081413 renal cell carcinoma with MiT translocations DOID:0081413 A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors. url:https://pubmed.ncbi.nlm.nih.gov/25758327/ url:https://pubmed.ncbi.nlm.nih.gov/31382581/ url:https://pubmed.ncbi.nlm.nih.gov/36672892/ url:https://pubmed.ncbi.nlm.nih.gov/37060647/ A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. NCI:C37210 Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1-TFEB Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1::TFEB t(6;11) Renal Cell Carcinoma t(6;11);(p21;q12) Renal Cell Carcinoma disease_ontology DOID:0081414 TFEB-rearranged renal cell carcinoma DOID:0081414 A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. url:https://pubmed.ncbi.nlm.nih.gov/36830782/ A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene. NCI:C27891 Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions Xp11 Translocation Renal Cell Carcinoma disease_ontology DOID:0081415 TFE3-rearranged renal cell carcinoma DOID:0081415 A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene. url:https://pubmed.ncbi.nlm.nih.gov/38104891/ A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood. NCI:C189242 UMLS_CUI:C5708328 disease_ontology DOID:0081416 childhood renal cell carcinoma with MiT translocations DOID:0081416 A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood. url:https://pubmed.ncbi.nlm.nih.gov/37528880/ A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. ICDO:9370/3 NCI:C177898 disease_ontology DOID:0081417 poorly differentiated chordoma DOID:0081417 A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. url:https://pubmed.ncbi.nlm.nih.gov/29483606/ url:https://pubmed.ncbi.nlm.nih.gov/34482218/ A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures. ICDO:8802/3 NCI:C154496 disease_ontology DOID:0081418 anaplastic sarcoma of the kidney DOID:0081418 A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures. url:https://pubmed.ncbi.nlm.nih.gov/17895746/ url:https://pubmed.ncbi.nlm.nih.gov/27006300/ url:https://pubmed.ncbi.nlm.nih.gov/28862265/ A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later. GARD:13488 MIM:617282 ORDO:508093 DYSTONIA 29, CHILDHOOD-ONSET DYTOABG MECR-related neurologic disorder MEPAN syndrome Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration disease_ontology DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities DOID:0081419 A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later. url:https://pubmed.ncbi.nlm.nih.gov/27817865/ DYTOABG A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members. GARD:13295 MIM:PS604364 ORDO:98820 DEPDC5-related epilepsy disease_ontology DOID:0081420 familial focal epilepsy with variable foci DOID:0081420 A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members. url:https://www.ncbi.nlm.nih.gov/books/NBK385626/ A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12. MIM:604364 disease_ontology DOID:0081421 familial focal epilepsy with variable foci 1 DOID:0081421 A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12. url:https://pubmed.ncbi.nlm.nih.gov/32848577/ A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL2 gene on chromosome 3p21. MIM:617116 disease_ontology DOID:0081422 familial focal epilepsy with variable foci 2 DOID:0081422 A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL2 gene on chromosome 3p21. url:https://pubmed.ncbi.nlm.nih.gov/26505888/ A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL3 gene on chromosome 16p13. MIM:617118 disease_ontology DOID:0081423 familial focal epilepsy with variable foci 3 DOID:0081423 A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL3 gene on chromosome 16p13. url:https://pubmed.ncbi.nlm.nih.gov/26505888/ A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. MIM:617935 disease_ontology DOID:0081424 familial focal epilepsy with variable foci 4 DOID:0081424 A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. url:https://pubmed.ncbi.nlm.nih.gov/28235671/ An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness in early infancy and that has_material_basis_in homozygous mutation in the REEP1 gene on chromosome 2p11. MIM:620011 disease_ontology DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 DOID:0081425 An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness in early infancy and that has_material_basis_in homozygous mutation in the REEP1 gene on chromosome 2p11. url:https://pubmed.ncbi.nlm.nih.gov/31872057/ An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36. MIM:619216 disease_ontology DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 DOID:0081426 An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36. url:https://pubmed.ncbi.nlm.nih.gov/33459760/ url:https://pubmed.ncbi.nlm.nih.gov/33559681/ An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. DOID:0081376 MIM:618912 SORDD sorbitol dehydrogenase deficiency with peripheral neuropathy disease_ontology DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 DOID:0081427 An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. url:https://pubmed.ncbi.nlm.nih.gov/32367058/ SORDD An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12. MIM:620402 disease_ontology DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 DOID:0081428 An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12. url:https://pubmed.ncbi.nlm.nih.gov/36454683/ An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene on chromosome 14q32. MIM:620542 disease_ontology DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 DOID:0081429 An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene on chromosome 14q32. url:https://pubmed.ncbi.nlm.nih.gov/35641352/ An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23. MIM:618906 IDDALDS disease_ontology DOID:0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures DOID:0081430 An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23. url:https://pubmed.ncbi.nlm.nih.gov/31616000/ IDDALDS An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. MIM:617604 ORDO:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum disease_ontology DOID:0081431 microcephaly, short stature, and limb abnormalities DOID:0081431 An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. url:https://pubmed.ncbi.nlm.nih.gov/28191891/ A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder. MIM:251230 ORDO:572768 disease_ontology DOID:0081432 microcephaly-micromelia syndrome DOID:0081432 A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder. url:https://pubmed.ncbi.nlm.nih.gov/28630177/ A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR. MIM:614863 disease_ontology DOID:0081433 Peroxisome biogenesis disorder 4B DOID:0081433 A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR. url:https://pubmed.ncbi.nlm.nih.gov/22871920/ A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21. MIM:614867 disease_ontology DOID:0081434 Peroxisome biogenesis disorder 5B DOID:0081434 A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21. url:https://pubmed.ncbi.nlm.nih.gov/22871920/ A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX10 gene on chromosome 1p36. MIM:614871 disease_ontology DOID:0081435 Peroxisome biogenesis disorder 6B DOID:0081435 A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX10 gene on chromosome 1p36. url:https://pubmed.ncbi.nlm.nih.gov/22871920/ A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.21. MIM:614873 disease_ontology DOID:0081436 Peroxisome biogenesis disorder 7B DOID:0081436 A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.21. url:https://pubmed.ncbi.nlm.nih.gov/22871920/ A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. MIM:614877 disease_ontology DOID:0081437 Peroxisome biogenesis disorder 8B DOID:0081437 A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. url:https://pubmed.ncbi.nlm.nih.gov/22871920/ A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23. MIM:614879 disease_ontology DOID:0081438 Peroxisome biogenesis disorder 9B DOID:0081438 A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23. url:https://pubmed.ncbi.nlm.nih.gov/12325024/ A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15. MIM:614885 disease_ontology DOID:0081439 Peroxisome biogenesis disorder 11B DOID:0081439 A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15. url:https://pubmed.ncbi.nlm.nih.gov/22871920/ A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX3 gene on chromosome 6q24. MIM:617370 disease_ontology DOID:0081440 Peroxisome biogenesis disorder 10B DOID:0081440 A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX3 gene on chromosome 6q24. url:https://pubmed.ncbi.nlm.nih.gov/22871920/ A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. GARD:270 MIM:601358 ORDO:3051 Intellectual disability-sparse hair-brachydactyly syndrome SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME disease_ontology DOID:0081441 Nicolaides-Baraitser syndrome DOID:0081441 A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. url:https://pubmed.ncbi.nlm.nih.gov/19606471/ url:https://www.ncbi.nlm.nih.gov/books/NBK321516/ A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. MIM:619293 ORDO:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome disease_ontology DOID:0081442 blepharophimosis-impaired intellectual development syndrome DOID:0081442 A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. url:https://pubmed.ncbi.nlm.nih.gov/32694869/ A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13. MIM:618505 disease_ontology DOID:0081443 Stolerman neurodevelopmental syndrome DOID:0081443 A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13. url:https://pubmed.ncbi.nlm.nih.gov/31124279/ url:https://pubmed.ncbi.nlm.nih.gov/37196654/ An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13. MIM:620242 disease_ontology DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities DOID:0081444 An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13. url:https://pubmed.ncbi.nlm.nih.gov/34379057/ url:https://pubmed.ncbi.nlm.nih.gov/36604604/ A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia). ICD10CM:D57 ICD9CM:282.6 MESH:D006450 MIM:603903 NCI:C34383 NCI:C34676 SNOMEDCT_US_2025_04_25:417357006 UMLS_CUI:C0019034 disease_ontology DOID:0081445 sickle cell disease DOID:0081445 A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia). url:https://medlineplus.gov/genetics/condition/sickle-cell-disease url:https://www.ncbi.nlm.nih.gov/books/NBK1377/ url:https://www.ncbi.nlm.nih.gov/books/NBK482164/ An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH on chromosome 5q14. MIM:605850 ORDO:243343 DMG dehydrogenase deficiency disease_ontology DOID:0081446 dimethylglycine dehydrogenase deficiency DOID:0081446 An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH on chromosome 5q14. url:https://pubmed.ncbi.nlm.nih.gov/10102904/ url:https://pubmed.ncbi.nlm.nih.gov/11231903/ A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13. MIM:616502 disease_ontology DOID:0081447 cone-rod dystrophy 21 DOID:0081447 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13. url:https://pubmed.ncbi.nlm.nih.gov/26720460/ A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. MIM:619531 disease_ontology DOID:0081448 cone-rod dystrophy 22 DOID:0081448 A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. url:https://pubmed.ncbi.nlm.nih.gov/33077892/ A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11. MIM:620342 disease_ontology DOID:0081449 cone-rod dystrophy 24 DOID:0081449 A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11. url:https://pubmed.ncbi.nlm.nih.gov/35947183/ A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24. GARD:2788 MIM:260920 ORDO:343 HYPER-IgD SYNDROME disease_ontology DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome DOID:0081450 A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24. url:https://pubmed.ncbi.nlm.nih.gov/22041426/ An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. GARD:5657 ORDO:42642 Marshall syndrome with periodic fever Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome disease_ontology DOID:0081451 PFAPA syndrome DOID:0081451 An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. url:https://www.ncbi.nlm.nih.gov/articles/PMC8356195/ A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters. disease_ontology DOID:0081452 large B-cell lymphoma DOID:0081452 A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters. url:https://pubmed.ncbi.nlm.nih.gov/37190213/ A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent. MESH:C538212 MIM:300009 ORDO:93622 SNOMEDCT_US_2023_03_01:717789008 UMLS_CUI:C1848336 disease_ontology DOID:0081453 Dent disease 1 DOID:0081453 A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent. url:https://pubmed.ncbi.nlm.nih.gov/32248351/ url:https://www.ncbi.nlm.nih.gov/books/NBK99494/ A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26. MESH:C564487 MIM:300555 SNOMEDCT_US_2023_03_01:717790004 UMLS_CUI:C1845167 disease_ontology DOID:0081454 Dent disease 2 DOID:0081454 A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26. url:https://pubmed.ncbi.nlm.nih.gov/15627218/ An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. auto brewery syndrome gut fermentation syndrome disease_ontology DOID:0081455 auto-brewery syndrome DOID:0081455 An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. url:https://en.wikipedia.org/wiki/Auto-brewery_syndrome url:https://pubmed.ncbi.nlm.nih.gov/38246992/ url:https://www.ncbi.nlm.nih.gov/books/NBK513346/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667719/ An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. urinary auto-brewery syndrome disease_ontology DOID:0081456 bladder fermentation syndrome DOID:0081456 An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. url:https://pubmed.ncbi.nlm.nih.gov/38246992/ A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. ICDO:8589/3 NCI:C46106 CASTLE Carcinoma showing thymus-like differentiation Carcinoma showing thymus-like element Intrathyroid thymic carcinoma Thyroid_Gland_Carcinoma_Showing_Thymus-Like_Differentiation disease_ontology DOID:0081457 intrathyroid thymic carcinoma DOID:0081457 A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. url:https://pubmed.ncbi.nlm.nih.gov/37925863/ CASTLE A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. NCI:C126408 CMTC Cribriform Morular Thyroid Gland Carcinoma Cribriform-Morular Variant Thyroid Gland Papillary Cancer Cribriform-Morular Variant Thyroid Gland Papillary Carcinoma Thyroid Gland Cribriform Morular Carcinoma disease_ontology DOID:0081458 thyroid gland cribriform morular carcinoma DOID:0081458 A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. url:https://pubmed.ncbi.nlm.nih.gov/35882545/ CMTC A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. NCI:C46104 mixed medullary and follicular cell-derived carcinomas disease_ontology DOID:0081459 thyroid gland mixed medullary and follicular cell-derived carcinoma DOID:0081459 A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. url:https://pubmed.ncbi.nlm.nih.gov/20574174/ A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. NCI:C156267 disease_ontology DOID:0081460 thyroid gland mucinous carcinoma DOID:0081460 A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. url:https://pubmed.ncbi.nlm.nih.gov/24466763/ A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. NCI:C46105 SETTLE Spindle Epithelial Tumor with Thymus-Like Elements Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation Thyroid Gland Spindle Epithelial Tumor with Thymus-Like Elements disease_ontology DOID:0081461 thyroid gland spindle epithelial tumor with thymus-like elements DOID:0081461 A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. url:https://pubmed.ncbi.nlm.nih.gov/21085772/ SETTLE A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. GARD:6465 ICD10CM:Q87.0 MESH:D058497 MIM:PS219000 ORDO:2052 cryptophthalmos with other malformations disease_ontology DOID:0090001 Fraser syndrome DOID:0090001 A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. url:https://www.ncbi.nlm.nih.gov/pubmed/12766769 url:https://www.ncbi.nlm.nih.gov/pubmed/15838507 url:https://www.ncbi.nlm.nih.gov/pubmed/16894541 url:https://www.ncbi.nlm.nih.gov/pubmed/22510445 A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. GARD:7772 MESH:C536919 MIM:103500 ORDO:42665 Tietz albinism-deafness syndrome albinism-deafness of Tietz hypopigmentation/deafness of Tietz disease_ontology DOID:0090002 Tietz syndrome DOID:0090002 A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. url:https://ghr.nlm.nih.gov/condition/tietz-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/13985019 url:https://www.ncbi.nlm.nih.gov/pubmed/8589691 A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. DOID:0060600 ICD10CM:G60.0 MIM:218000 ORDO:1496 Andermann syndrome Charlevoix disease corpus callosum agenesis-neuronopathy syndrome disease_ontology DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy DOID:0090003 A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. url:https://www.ncbi.nlm.nih.gov/pubmed/12368912 url:https://www.ncbi.nlm.nih.gov/pubmed/12838516 A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22. ICD10CM:Q77.7 MIM:208230 ORDO:1159 spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome disease_ontology DOID:0090004 progressive pseudorheumatoid arthropathy of childhood DOID:0090004 A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22. url:https://www.ncbi.nlm.nih.gov/pubmed/15215498 url:https://www.ncbi.nlm.nih.gov/pubmed/15601861 url:https://www.ncbi.nlm.nih.gov/pubmed/6807993 A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. GARD:250 ICD10CM:G71.1 MIM:255800 ORDO:800 Aberfeld syndrome Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy disease_ontology DOID:0090005 Schwartz-Jampel syndrome 1 DOID:0090005 A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/11941538 url:https://www.ncbi.nlm.nih.gov/pubmed/1552548 url:https://www.ncbi.nlm.nih.gov/pubmed/18647752 A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. GARD:4106 ICD10CM:Q60.4 MIM:120330 ORDO:1475 CAKUT with or without ocular abnormalities coloboma of optic nerve with renal disease congenital anomalies of the kidney and urinary tract with or without ocular abnormalities optic coloboma, vesicoureteral reflux and renal anomalies papillo-renal syndrome, optic nerve coloboma with renal disease papillorenal syndrome renal-coloboma syndrome with macular abnormalities disease_ontology DOID:0090006 renal coloboma syndrome DOID:0090006 A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/10466411 url:https://www.ncbi.nlm.nih.gov/pubmed/7795640 A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases. ICD10CM:D84.8 MIM:PS242860 ORDO:2268 ICF syndrome disease_ontology DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome DOID:0090007 A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases. url:https://www.ncbi.nlm.nih.gov/pubmed/17893117 url:https://www.ncbi.nlm.nih.gov/pubmed/26216346 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. ICD10CM:D84.8 MIM:242860 ICF syndrome 1 disease_ontology DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 DOID:0090008 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10647011 url:https://www.ncbi.nlm.nih.gov/pubmed/17893117 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21. ICD10CM:D84.8 MIM:614069 ICF syndrome 2 disease_ontology DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 DOID:0090009 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21. url:https://www.ncbi.nlm.nih.gov/pubmed/21596365 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31. ICD10CM:D84.8 MIM:616910 ICF syndrome 3 disease_ontology DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 DOID:0090010 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/26216346 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23. ICD10CM:D84.8 MIM:616911 ICF syndrome 4 disease_ontology DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 DOID:0090011 An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23. url:https://www.ncbi.nlm.nih.gov/pubmed/26216346 A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. DOID:0060006 ICD10CM:D81.1 MESH:C537589 MIM:602450 ORDO:275 SCID due to DCLRE1C deficiency SCID due to artemis deficiency SCID, Athabascan type SCID, Athabaskan type Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency due to artemis deficiency Severe combined immunodeficiency, Athabascan type Severe combined immunodeficiency, Athabaskan type artemis deficiency disease_ontology DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation DOID:0090012 A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11336668 A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. ICD10CM:D81.1 MESH:C563311 MIM:601457 ORDO:331206 SCID due to complete RAG1-2 deficiency Severe combined immunodeficiency due to complete RAG1-2 deficiency autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID disease_ontology DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive DOID:0090013 A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. url:https://www.ncbi.nlm.nih.gov/pubmed/1940786 A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13. DOID:0060015 ICD10CM:D81.2 MESH:C563822 MIM:608971 ORDO:169154 autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID interleukin-7 receptor alpha deficiency severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive disease_ontology DOID:0090014 severe combined immunodeficiency 104 DOID:0090014 A severe combined immunodeficiency that is characterized by the onset of recurrent infections in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13. url:https://pubmed.ncbi.nlm.nih.gov/15661025/ url:https://www.ncbi.nlm.nih.gov/pubmed/15661025 url:https://www.ncbi.nlm.nih.gov/pubmed/9068311 url:https://www.ncbi.nlm.nih.gov/pubmed/9843216 A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11. GARD:5084 ICD10CM:Q78.4 MIM:212780 ORDO:3258 syndactyly type 7 disease_ontology DOID:0090015 Cenani-Lenz syndactyly syndrome DOID:0090015 A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11. url:https://www.ncbi.nlm.nih.gov/pubmed/18978656 url:https://www.ncbi.nlm.nih.gov/pubmed/20381006 url:https://www.ncbi.nlm.nih.gov/pubmed/6279340 A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q. GARD:10840 ICD10CM:D46.7 MESH:C535323 MIM:153550 ORDO:86841 5q- syndrome, refractory macrocytic anemia due to 5q deletion myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality disease_ontology DOID:0090016 chromosome 5q deletion syndrome DOID:0090016 A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q. url:https://www.ncbi.nlm.nih.gov/pubmed/18202658 url:https://www.ncbi.nlm.nih.gov/pubmed/19898489 url:https://www.ncbi.nlm.nih.gov/pubmed/25920683 An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. ICD10CM:Q81.0 MIM:226670 ORDO:257 epidermolysis bullosa simplex and limb-girdle muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex disease_ontology DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy DOID:0090017 An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. url:https://www.ncbi.nlm.nih.gov/pubmed/2662909 url:https://www.ncbi.nlm.nih.gov/pubmed/8696340 An autoinflammatory disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. GARD:8457 ICD10CM:E85.0 MIM:142680 ORDO:32960 FHF FPF TRAPS autosomal dominant familial periodic fever familial Hibernian fever hibernian fever tumor necrosis factor receptor associated periodic syndrome disease_ontology DOID:0090018 nomenclature change. TNF receptor–associated periodic syndrome DOID:0090018 An autoinflammatory disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/10199409 url:https://www.ncbi.nlm.nih.gov/pubmed/7156325 url:https://www.nomidalliance.org/traps.php FHF FPF TRAPS An intestinal disease with autosomal recessive inheritance characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia. GARD:7653 MESH:C537345 MIM:PS210250 NCI:C125694 ORDO:2882 SNOMEDCT_US_2023_03_01:238104009 UMLS_CUI:C0342907 phytosterolemia disease_ontology DOID:0090019 sitosterolemia GARD:7653 MESH:C537345 NCI:C125694 ORDO:2882 UMLS_CUI:C0342907 DOID:0090019 An intestinal disease with autosomal recessive inheritance characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia. url:https://medlineplus.gov/genetics/condition/sitosterolemia/ url:https://www.ncbi.nlm.nih.gov/books/NBK572142/ url:https://www.ncbi.nlm.nih.gov/pubmed/11099417 url:https://www.ncbi.nlm.nih.gov/pubmed/11138003 A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. GARD:6319 MESH:C574275 MIM:PS183600 NCI:C75000 ORDO:2440 SNOMEDCT_US_2023_03_01:81208006 UMLS_CUI:C0265554 lobster-claw deformity split-hand deformity disease_ontology DOID:0090020 split hand-foot malformation DOID:0090020 A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. url:https://www.ncbi.nlm.nih.gov/pubmed/12668597 url:https://www.ncbi.nlm.nih.gov/pubmed/7802032 A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region. ICD10CM:Q71.6 MIM:183600 ORDO:2440 SHFD1 SHFM1 disease_ontology DOID:0090021 split hand-foot malformation 1 DOID:0090021 A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region. url:https://www.ncbi.nlm.nih.gov/pubmed/24496061 url:https://www.ncbi.nlm.nih.gov/pubmed/7616545 SHFD1 SHFM1 A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31. MESH:C574275 MIM:606708 NCI:C75000 ORDO:2440 SNOMEDCT_US_2023_03_01:81208006 UMLS_CUI:C0265554 SHFM5 disease_ontology DOID:0090022 split hand-foot malformation 5 DOID:0090022 A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/10364522 SHFM5 A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. MESH:C574275 MIM:605289 NCI:C75000 ORDO:2440 SNOMEDCT_US_2023_03_01:81208006 UMLS_CUI:C0265554 SHFM4 disease_ontology DOID:0090023 split hand-foot malformation 4 DOID:0090023 A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. url:https://www.ncbi.nlm.nih.gov/pubmed/10839977 SHFM4 A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. ICD10CM:Q87.2 MIM:220600 ORDO:71271 SHFM1D congenital deafness with split hands and feet disease_ontology DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss DOID:0090024 A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. url:https://www.ncbi.nlm.nih.gov/pubmed/22121204 SHFM1D A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24. MESH:C574275 MIM:246560 NCI:C75000 ORDO:2440 SNOMEDCT_US_2023_03_01:81208006 UMLS_CUI:C0265554 SHFM3 chromosome 10q24 duplication syndrome distal limb deficiencies with micrognathia disease_ontology DOID:0090025 split hand-foot malformation 3 DOID:0090025 A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/14699611 SHFM3 A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13. MESH:C574275 MIM:225300 NCI:C75000 ORDO:2440 SNOMEDCT_US_2023_03_01:81208006 UMLS_CUI:C0265554 SHFM6 disease_ontology DOID:0090026 split hand-foot malformation 6 DOID:0090026 A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/18515319 SHFM6 A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26. MESH:C574275 MIM:313350 NCI:C75000 ORDO:2440 SNOMEDCT_US_2023_03_01:81208006 UMLS_CUI:C0265554 SHFM2 disease_ontology DOID:0090027 split hand-foot malformation 2 DOID:0090027 A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26. url:https://www.ncbi.nlm.nih.gov/pubmed/15617554 SHFM2 A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. MESH:C535393 MIM:277460 NCI:C155996 ORDO:96 SNOMEDCT_US_2023_03_01:702442008 UMLS_CUI:C1848533 ataxia with isolated vitamin E deficiency familial isolated vitamin E deficiency disease_ontology DOID:0090028 familial isolated deficiency of vitamin E DOID:0090028 A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. url:https://www.ncbi.nlm.nih.gov/pubmed/2298915 url:https://www.ncbi.nlm.nih.gov/pubmed/7719340 An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. ICD10CM:E85.0 MIM:607115 ORDO:1451 IOMID syndrome NOMID syndrome Prieur-Griscelli syndrome chronic infantile neurological cutaneous articular syndrome chronic neurologic cutaneous and articular syndrome cryopyrin-associated periodic syndrome 3 infantile-onset multisystem inflammatory disease neonatal-onset multisystem inflammatory disease disease_ontology DOID:0090029 CINCA Syndrome DOID:0090029 An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. url:https://www.ncbi.nlm.nih.gov/pubmed/12032915 url:https://www.ncbi.nlm.nih.gov/pubmed/7252669 url:https://www.nomidalliance.org/nomid.php An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. GARD:13101 ICD10CM:E27.8 MESH:C565152 MIM:611489 ORDO:199247 CBG deficiency transcortin deficiency disease_ontology DOID:0090030 corticosteroid-binding globulin deficiency DOID:0090030 An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/10634411 url:https://www.ncbi.nlm.nih.gov/pubmed/7061486 A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2. GARD:4539 ICD10CM:E71.3 MIM:261515 ORDO:300 disease_ontology DOID:0090031 D-bifunctional protein deficiency DOID:0090031 A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2. url:https://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency url:https://www.omim.org/entry/261515 An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36. ICD10CM:Q77.7 MIM:224410 ORDO:1865 disease_ontology DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia DOID:0090032 An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36. url:https://ghr.nlm.nih.gov/gene/HSPG2#conditions url:https://www.omim.org/entry/224410 A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life. MESH:C536096 disease_ontology DOID:0090033 myoclonic dystonia DOID:0090033 A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life. url:https://en.wikipedia.org/wiki/Myoclonic_dystonia url:https://ghr.nlm.nih.gov/condition/myoclonus-dystonia A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. ICD10CM:G24.1 MIM:159900 ORDO:36899 disease_ontology DOID:0090034 myoclonic dystonia 11 DOID:0090034 A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. url:https://ghr.nlm.nih.gov/condition/myoclonus-dystonia url:https://www.omim.org/entry/159900 A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11. MIM:607488 ORDO:210566 disease_ontology DOID:0090035 myoclonic dystonia 15 DOID:0090035 A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11. url:https://ghr.nlm.nih.gov/condition/myoclonus-dystonia url:https://www.omim.org/entry/607488 A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12. MIM:616398 disease_ontology DOID:0090036 myoclonic dystonia 26 DOID:0090036 A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12. url:https://ghr.nlm.nih.gov/condition/myoclonus-dystonia url:https://www.omim.org/entry/616398 A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13. ICD10CM:G24.1 MIM:607671 ORDO:98807 disease_ontology DOID:0090037 torsion dystonia 13 DOID:0090037 A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13. url:https://www.ncbi.nlm.nih.gov/pubmed/11261511 url:https://www.omim.org/entry/607671 A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. ICD10CM:G24.1 MIM:224500 ORDO:99657 disease_ontology DOID:0090038 torsion dystonia 2 DOID:0090038 A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. url:https://www.ncbi.nlm.nih.gov/pubmed/25799108 url:https://www.omim.org/entry/224500 A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11. ICD10CM:G24.1 MIM:602629 ORDO:98806 disease_ontology DOID:0090039 torsion dystonia 6 DOID:0090039 A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11. url:https://ghr.nlm.nih.gov/condition/dystonia-6 A focal dystonia that is characterized by predominantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p. MIM:602124 disease_ontology DOID:0090040 torsion dystonia 7 DOID:0090040 A focal dystonia that is characterized by predominantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p. url:https://www.ncbi.nlm.nih.gov/pubmed/23596437 url:https://www.omim.org/entry/602124 A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13. ICD10CM:G24.1 MIM:128101 ORDO:98805 disease_ontology DOID:0090041 torsion dystonia 4 DOID:0090041 A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/29127012 url:https://www.omim.org/entry/128101 A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12. ICD10CM:G24.1 MIM:612406 ORDO:370103 disease_ontology DOID:0090042 torsion dystonia 17 DOID:0090042 A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12. url:https://www.ncbi.nlm.nih.gov/pubmed/23596437 url:https://www.omim.org/entry/612406 A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. DOID:0060963 ICD10CM:G24.1 MIM:128230 ORDO:98808 Autosomal dominant Segawa syndrome DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION GTPCH1-deficient DRD GTPCH1-deficient dopa-responsive dystonia HPD with marked diurnal fluctuation Hereditary progressive dystonia with marked diurnal fluctuation dystonia 5 disease_ontology DOID:0090043 dopa-responsive dystonia DOID:0090043 A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. url:https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia/ url:https://pubmed.ncbi.nlm.nih.gov/17111153/ url:https://www.ncbi.nlm.nih.gov/books/NBK1508/ A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. ICD10CM:G24.8 MIM:601042 ORDO:53583 UMLS_CUI:C1832855 paroxysmal choreoathetosis with spasticity disease_ontology DOID:0090044 dystonia 9 MESH:C563401 UMLS_CUI:C1832855 DOID:0090044 A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. url:https://www.ncbi.nlm.nih.gov/books/NBK1430/ url:https://www.ncbi.nlm.nih.gov/pubmed/30616884 url:https://www.omim.org/entry/601042 A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. PED paroxysmal exercise-induced dyskinesia paroxysmal exertion-induced dyskinesia GARD:10541 ICD10CM:G24.8 MESH:C564288 MIM:612126 ORDO:98811 UMLS_CUI:C1842534 DYT18 GLUT1 deficiency syndrome 2 GLUT1DS2 childhood-onset GLUT1 deficiency syndrome 2 dystonia 18 disease_ontology DOID:0090045 glucose transporter type 1 deficiency syndrome 2 GARD:10541 MESH:C564288 MIM:612126 ORDO:98811 UMLS_CUI:C1842534 DOID:0090045 A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. url:https://www.ncbi.nlm.nih.gov/pubmed/26336901 url:https://www.omim.org/entry/612126 PED DYT18 GLUT1DS2 A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3. ICD10CM:G24.1 MIM:614588 ORDO:306734 disease_ontology DOID:0090046 dystonia 21 DOID:0090046 A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21301909 url:https://www.ncbi.nlm.nih.gov/pubmed/29770609 url:https://www.omim.org/entry/614588 A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31. ICD10CM:G24.8 MESH:C567001 MIM:611147 ORDO:98810 disease_ontology DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 DOID:0090047 A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31. url:https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia url:https://www.ncbi.nlm.nih.gov/pubmed/20425035 url:https://www.ncbi.nlm.nih.gov/pubmed/22454269 A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31. GARD:10539 ICD10CM:G24.1 MESH:C567430 MIM:612067 ORDO:210571 disease_ontology DOID:0090048 dystonia 16 DOID:0090048 A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/28283962 url:https://www.ncbi.nlm.nih.gov/pubmed/29279192 url:https://www.omim.org/entry/612067 A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. ICD10CM:G24.8 MIM:118800 ORDO:98810 disease_ontology DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 DOID:0090049 A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. url:https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia url:https://www.ncbi.nlm.nih.gov/pubmed/28090678 A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37. ICD10CM:G24.1 MIM:616411 ORDO:464440 disease_ontology DOID:0090050 dystonia 27 DOID:0090050 A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/26004199 url:https://www.omim.org/entry/616411 A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34. ICD10CM:G24.8 MIM:614860 ORDO:420492 disease_ontology DOID:0090051 dystonia 23 DOID:0090051 A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/25296916 url:https://www.omim.org/entry/614860 A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14. ICD10CM:G24.8 MIM:615034 ORDO:420485 disease_ontology DOID:0090052 dystonia 24 DOID:0090052 A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14. url:https://www.ncbi.nlm.nih.gov/pubmed/30455893 url:https://www.omim.org/entry/615034 A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11. GARD:8721 ICD10CM:G24.8 MIM:128200 ORDO:98809 Paroxysmal kinesigenic choreoathetosis disease_ontology DOID:0090053 episodic kinesigenic dyskinesia 1 DOID:0090053 A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11. url:https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia url:https://www.omim.org/entry/128200 A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1. ICD10CM:G24.8 MESH:C567026 MIM:611031 ORDO:98809 disease_ontology DOID:0090054 episodic kinesigenic dyskinesia 2 DOID:0090054 A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1. url:https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11. ICD10CM:G24.1 MIM:615073 ORDO:329466 disease_ontology DOID:0090055 dystonia 25 DOID:0090055 A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11. url:https://www.ncbi.nlm.nih.gov/pubmed/28283962 url:https://www.ncbi.nlm.nih.gov/pubmed/30660597 url:https://www.omim.org/entry/615073 A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13. ICD10CM:G24.1 MESH:C538001 MIM:128235 ORDO:71517 disease_ontology DOID:0090056 dystonia 12 DOID:0090056 A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13. url:https://ghr.nlm.nih.gov/condition/rapid-onset-dystonia-parkinsonism url:https://www.omim.org/entry/128235 A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1. GARD:10533 ICD10CM:G24.1 MIM:314250 ORDO:53351 disease_ontology DOID:0090057 X-linked dystonia-parkinsonism DOID:0090057 A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1. url:https://ghr.nlm.nih.gov/condition/x-linked-dystonia-parkinsonism url:https://www.omim.org/entry/314250 A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. ICD10CM:G24.1 MESH:C536969 MIM:602554 ORDO:256 disease_ontology DOID:0090058 torsion dystonia with onset in infancy DOID:0090058 A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. url:https://www.ncbi.nlm.nih.gov/pubmed/8916165 A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23. MESH:C564835 MIM:268100 disease_ontology DOID:0090059 enhanced S-cone syndrome DOID:0090059 A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23. url:https://www.ncbi.nlm.nih.gov/pubmed/30900587 url:https://www.omim.org/entry/268100 A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2. ICD10CM:E13 MESH:C536739 MIM:226980 ORDO:1667 disease_ontology DOID:0090060 Wolcott-Rallison syndrome DOID:0090060 A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/30906465 url:https://www.omim.org/entry/226980 An autoinflammatory disease that is characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. ICD10CM:L50.2 MIM:PS120100 ORDO:47045 FCAS disease_ontology DOID:0090061 familial cold autoinflammatory syndrome DOID:0090061 An autoinflammatory disease that is characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. url:https://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome url:https://rarediseases.org/rare-diseases/familial-cold-autoinflammatory-syndrome/ url:https://www.nomidalliance.org/fcas.php FCAS A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. ICD10CM:L50.2 MIM:120100 ORDO:47045 FCAS1 disease_ontology DOID:0090062 familial cold autoinflammatory syndrome 1 DOID:0090062 A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. url:https://www.ncbi.nlm.nih.gov/pubmed/11687797 FCAS1 A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13. MESH:C567090 MIM:611762 FCAS2 NLRP12-associated hereditary periodic fever syndrome disease_ontology DOID:0090063 familial cold autoinflammatory syndrome 2 DOID:0090063 A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/18230725 FCAS2 A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q. ICD10CM:L50.2 MIM:614468 ORDO:300359 FACU FCAS3 PLAID PLCG2-associated antibody deficiency and immune dysregulation familial atypical cold urticaria phospholipase C gamma 2-associated antibody deficiency and immune dysregulation disease_ontology DOID:0090064 familial cold autoinflammatory syndrome 3 DOID:0090064 A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q. url:https://www.ncbi.nlm.nih.gov/pubmed/22236196 FACU FCAS3 PLAID A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22. ICD10CM:L50.2 MIM:616115 ORDO:47045 FCAS4 disease_ontology DOID:0090065 familial cold autoinflammatory syndrome 4 DOID:0090065 A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22. url:https://www.ncbi.nlm.nih.gov/pubmed/25385754 FCAS4 A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. MESH:C536855 MIM:227850 disease_ontology DOID:0090066 Fanconi-like syndrome DOID:0090066 A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. url:https://www.ncbi.nlm.nih.gov/pubmed/4692131 A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25. GARD:2410 ICD10CM:Q74.8 MESH:C538189 MIM:228930 ORDO:2854 disease_ontology DOID:0090067 Fuhrmann syndrome DOID:0090067 A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25. url:https://www.ncbi.nlm.nih.gov/pubmed/28917830 url:https://www.omim.org/entry/228930 An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23. MESH:D056768 MIM:256850 ORDO:643 disease_ontology DOID:0090068 giant axonal neuropathy 1 DOID:0090068 An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23. url:https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy url:https://www.ncbi.nlm.nih.gov/pubmed/30709364 url:https://www.omim.org/entry/256850 An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23. MIM:610100 disease_ontology DOID:0090069 giant axonal neuropathy 2 DOID:0090069 An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23. url:https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy url:https://www.ncbi.nlm.nih.gov/pubmed/24500646 url:https://www.omim.org/entry/610100 A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone. DOID:7455 ICD10CM:E23.0 MIM:PS147950 ORDO:432 ORDO:478 congenital idiopathic hypogonadotropic hypogonadism hypogonadotropism isolated congenital gonadotropin deficiency disease_ontology DOID:0090070 hypogonadotropic hypogonadism DOID:0090070 A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone. url:https://www.ncbi.nlm.nih.gov/pubmed/17761590 A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24. ICD10CM:E23.0 MIM:614840 disease_ontology DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia DOID:0090071 A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24. url:https://www.ncbi.nlm.nih.gov/pubmed/19079066 A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. ICD10CM:E23.0 MIM:614841 familial hypogonadotrophic eunuchoidism familial idiopathic gonadotrpin deficiency disease_ontology DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia DOID:0090072 A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. url:https://www.ncbi.nlm.nih.gov/pubmed/19535795 A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32. ICD10CM:E23.0 MIM:614842 disease_ontology DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia DOID:0090073 A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32. url:https://www.ncbi.nlm.nih.gov/pubmed/22335740 A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes. ICD10CM:E23.0 MIM:614837 disease_ontology DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia DOID:0090074 A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/14573733 url:https://www.ncbi.nlm.nih.gov/pubmed/23643382 A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes. ICD10CM:E23.0 MIM:614880 disease_ontology DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia DOID:0090075 A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/21700882 url:https://www.ncbi.nlm.nih.gov/pubmed/23643382 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes. ICD10CM:E23.0 MIM:615267 disease_ontology DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia DOID:0090076 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/23643382 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene. ICD10CM:E23.0 MIM:610628 disease_ontology DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia DOID:0090077 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene. url:https://www.ncbi.nlm.nih.gov/pubmed/17054399 url:https://www.ncbi.nlm.nih.gov/pubmed/18559922 A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. ICD10CM:E23.0 MIM:146110 disease_ontology DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia DOID:0090078 A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. url:https://www.ncbi.nlm.nih.gov/pubmed/17235395 url:https://www.ncbi.nlm.nih.gov/pubmed/9371856 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes. ICD10CM:E23.0 MIM:615266 disease_ontology DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia DOID:0090079 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/23643382 A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes. ICD10CM:E23.0 MIM:614897 disease_ontology DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia DOID:0090080 A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/22416012 url:https://www.ncbi.nlm.nih.gov/pubmed/22927827 A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31. ICD10CM:E23.0 MIM:616030 disease_ontology DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia DOID:0090081 A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31. url:https://www.ncbi.nlm.nih.gov/pubmed/25192046 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes. ICD10CM:E23.0 MIM:615270 disease_ontology DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia DOID:0090082 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/23643382 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. ICD10CM:E23.0 MIM:147950 disease_ontology DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia DOID:0090083 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/12627230 url:https://www.ncbi.nlm.nih.gov/pubmed/20696889 A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12. ICD10CM:E23.0 MIM:612370 disease_ontology DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia DOID:0090084 A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12. url:https://www.ncbi.nlm.nih.gov/pubmed/18834967 A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene. ICD10CM:E23.0 MIM:614838 disease_ontology DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia DOID:0090085 A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene. url:https://www.ncbi.nlm.nih.gov/pubmed/15362570 url:https://www.ncbi.nlm.nih.gov/pubmed/17235395 A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene. ICD10CM:E23.0 MIM:612702 disease_ontology DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia DOID:0090086 A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene. url:https://www.ncbi.nlm.nih.gov/pubmed/18596921 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26. ICD10CM:E23.0 MIM:614858 disease_ontology DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia DOID:0090087 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26. url:https://www.ncbi.nlm.nih.gov/pubmed/20887964 A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14. ICD10CM:E23.6 MIM:229070 ORDO:52901 isolated follicle-stimulating hormone deficiency disease_ontology DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia DOID:0090088 A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14. url:https://www.ncbi.nlm.nih.gov/pubmed/8220432 url:https://www.ncbi.nlm.nih.gov/pubmed/9271483 A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13. ICD10CM:E23.0 MIM:614839 disease_ontology DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia DOID:0090089 A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/19079066 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes. ICD10CM:E23.0 MIM:615269 disease_ontology DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia DOID:0090090 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/23643382 A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. ICD10CM:Q56.1 MIM:228300 ORDO:325448 46,XY DSD due to LHB deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency Pasqualini syndrome fertile eunuch syndrome leydig cell hypoplasia due to LHB deficiency disease_ontology DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia DOID:0090091 A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/1727547 url:https://www.ncbi.nlm.nih.gov/pubmed/22723313 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene. ICD10CM:E23.0 MIM:244200 disease_ontology DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia DOID:0090092 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene. url:https://www.ncbi.nlm.nih.gov/pubmed/17054399 url:https://www.ncbi.nlm.nih.gov/pubmed/18559922 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes. ICD10CM:E23.0 MIM:615271 disease_ontology DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia DOID:0090093 A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes. url:https://www.ncbi.nlm.nih.gov/pubmed/23643382 A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene. ICD10CM:E23.0 MIM:308700 dysplasia olfactogenitalis of de morsier disease_ontology DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia DOID:0090094 A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene. url:https://www.ncbi.nlm.nih.gov/pubmed/1594017 url:https://www.ncbi.nlm.nih.gov/pubmed/16882753 url:https://www.ncbi.nlm.nih.gov/pubmed/17054399 An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritance of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates. ICD10CM:E70.3 ORDO:352740 WS2-OA autosomal recessive Waardenburg syndrome type 2 with ocular albinism digenic Waardenburg syndrome/albinism digenic Waardenburg syndrome/ocular albinism disease_ontology DOID:0090100 ocular albinism with sensorineural deafness DOID:0090100 An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritance of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates. url:https://ghr.nlm.nih.gov/condition/ocular-albinism url:https://www.ncbi.nlm.nih.gov/pubmed/28356565 url:https://www.ncbi.nlm.nih.gov/pubmed/29531335 url:https://www.omim.org/entry/103470 WS2-OA A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. ICD10CM:E74.0 ICD10CM:G73.6 MIM:261740 ORDO:439854 fatal congenital hypertrophic cardiomyopathy due to GSD fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis phosphorylase kinase deficiency of heart disease_ontology DOID:0090101 lethal congenital glycogen storage disease of heart DOID:0090101 A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. url:https://ghr.nlm.nih.gov/gene/PRKAG2#conditions url:https://www.omim.org/entry/261740 A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3. ICD10CM:D69.4 MIM:613112 ORDO:140957 MACTHC1 disease_ontology DOID:0090102 autosomal dominant isolated macrothrombocytopenia 1 DOID:0090102 A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/27291889 url:https://www.ncbi.nlm.nih.gov/pubmed/27905099 url:https://www.omim.org/entry/613112 MACTHC1 A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13. ICD10CM:G10 MIM:603218 ORDO:157941 HDL1 HLN1 Huntington disease-like 1 Huntington-like neurodegenerative disorder 1 autosomal dominant Huntington-like neurodegenerative disorder early-onset prion disease with prominent psychiatric features disease_ontology DOID:0090103 Huntington's disease-like 1 DOID:0090103 A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13. url:https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome url:https://www.omim.org/entry/603218 HDL1 HLN1 A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24. ICD10CM:G10 MIM:606438 ORDO:98934 HDL2 Huntington disease-like 2 disease_ontology DOID:0090104 Huntington's disease-like 2 DOID:0090104 A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24. url:https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome url:https://www.omim.org/entry/606438 HDL2 A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36. ICD10CM:E78.0 MIM:603813 ORDO:391665 ARH ARH1 ARH2 FHCB1 FHCB2 autosomal recessive hypercholesterolemia 1 autosomal recessive hypercholesterolemia 2 familial autosomal recessive hypercholesterolemia disease_ontology DOID:0090105 autosomal recessive hypercholesterolemia DOID:0090105 A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36. url:https://ghr.nlm.nih.gov/condition/hypercholesterolemia url:https://www.omim.org/entry/603813 ARH ARH1 ARH2 FHCB1 FHCB2 A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. GARD:5682 MESH:C535325 MIM:261640 NCI:C138171 ORDO:13 SNOMEDCT_US_2023_03_01:237914002 UMLS_CUI:C0878676 6-pyruvoyl-tetrahydropterin synthase deficiency HPABH4A PTS deficiency hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency disease_ontology DOID:0090106 BH4-deficient hyperphenylalaninemia A DOID:0090106 A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. url:https://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency url:https://www.omim.org/entry/261640 HPABH4A An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21. MIM:601198 HYPOC1 disease_ontology DOID:0090107 autosomal dominant hypocalcemia 1 DOID:0090107 An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21. url:https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia HYPOC1 An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13. MIM:615361 HYPOC2 disease_ontology DOID:0090108 autosomal dominant hypocalcemia 2 DOID:0090108 An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13. url:https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia HYPOC2 A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone. GARD:2877 ICD10CM:E20.8 MIM:PS601198 ORDO:428 HYPOC disease_ontology DOID:0090109 autosomal dominant hypocalcemia DOID:0090109 A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone. url:https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia url:https://www.ncbi.nlm.nih.gov/pubmed/27803672 HYPOC An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11. GARD:1850 ICD10CM:E31.0 MESH:C580192 MIM:304790 ORDO:37042 Autoimmune enteropathy type 1 DMSD IDDM-secretory diarrhea syndrome IPEX X-linked autoimmunity-allergic dysregulation syndrome XLAAD XPID autoimmunity-immunodeficiency syndrome, X-linked diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked immunodeficiency, polyendocrinopathy, and enteropathy, X-linked immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked disease_ontology DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome DOID:0090110 An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11. url:https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome url:https://www.omim.org/entry/304790 DMSD IPEX XLAAD XPID A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13. ICD10CM:E75.2 MIM:609136 ORDO:163746 Neurologic Waardenburg-Shah syndrome PCWH Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome disease_ontology DOID:0090111 PCWH syndrome DOID:0090111 A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13. url:https://ghr.nlm.nih.gov/gene/SOX10#conditions url:https://www.omim.org/entry/609136 PCWH A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21. GARD:9921 MESH:C536329 MIM:221770 ORDO:2770 SNOMEDCT_US_2023_03_01:702347001 UMLS_CUI:C1857316 NHD PLO-SL PLOSL polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy presenile dementia with bone cysts progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease disease_ontology DOID:0090112 Nasu-Hakola disease DOID:0090112 A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21. url:https://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy url:https://www.ncbi.nlm.nih.gov/pubmed/30042649 url:https://www.omim.org/entry/221770 NHD PLO-SL PLOSL A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29. ICD10CM:D82.8 MESH:C567453 MIM:611943 ORDO:420741 RNF168 deficiency Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome disease_ontology DOID:0090113 RIDDLE syndrome DOID:0090113 A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29. url:https://www.ncbi.nlm.nih.gov/pubmed/29255463 url:https://www.ncbi.nlm.nih.gov/pubmed/30122534 url:https://www.omim.org/entry/611943 A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12. MIM:136900 SFD hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of Sorsby disease_ontology DOID:0090114 Sorsby's fundus dystrophy DOID:0090114 A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12. url:https://www.ncbi.nlm.nih.gov/pubmed/26077580 url:https://www.ncbi.nlm.nih.gov/pubmed/26239453 url:https://www.omim.org/entry/136900 SFD A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11. GARD:10000 ICD10CM:G60.2 MIM:607250 ORDO:94124 SCAN1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 1 spinocerebellar ataxia with axonal neuropathy type 1 disease_ontology DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 DOID:0090115 A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11. url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94124 SCAN1 A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3. GARD:4974 ICD10CM:Q76.4 MIM:272460 ORDO:3275 SCT congenital scoliosis with unilateral unsegmented bar congenital synspondylism spondylocarpotarsal syndrome spondylocarpotarsal synostosis vertebral fusion with carpal coalition disease_ontology DOID:0090116 spondylocarpotarsal synostosis syndrome DOID:0090116 A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3. url:https://ghr.nlm.nih.gov/condition/spondylocarpotarsal-synostosis-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/29566257 SCT A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24. GARD:9210 MESH:C536510 MIM:249270 ORDO:498277 SNOMEDCT_US_2023_03_01:237617006 UMLS_CUI:C0342287 Rogers syndrome THMD1 TRMA thiamine metabolism dysfunction syndrome 1 thiamine-responsive anaemia syndrome thiamine-responsive anemia syndrome thiamine-responsive megaloblastic anaemia syndrome thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness thiamine-responsive myelodysplasia disease_ontology DOID:0090117 thiamine-responsive megaloblastic anemia syndrome DOID:0090117 A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24. url:https://ghr.nlm.nih.gov/condition/thiamine-responsive-megaloblastic-anemia-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1282/ url:https://www.omim.org/entry/249270 THMD1 TRMA A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers. GARD:640 MESH:C535982 NCI:C115207 ORDO:3319 SNOMEDCT_US_2023_03_01:716336002 UMLS_CUI:C1327915 CAMT congenital amegakaryocytic thrombocytopenic purpura disease_ontology DOID:0090118 congenital amegakaryocytic thrombocytopenia DOID:0090118 A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers. url:https://www.ncbi.nlm.nih.gov/pubmed/29191945 url:https://www.ncbi.nlm.nih.gov/pubmed/29384262 url:https://www.omim.org/entry/604498 CAMT An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. MESH:C535289 MIM:106260 ORDO:1071 SNOMEDCT_US_2023_03_01:7731005 UMLS_CUI:C1785148 AEC syndrome Hay-Wells syndrome ankyloblepharon-ectodermal defects-cleft lip and palate syndrome disease_ontology DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome DOID:0090119 An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. url:https://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/29339502 url:https://www.ncbi.nlm.nih.gov/pubmed/29956718 A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34. MESH:C563010 MIM:162830 ORDO:279943 SNOMEDCT_US_2023_03_01:129639005 UMLS_CUI:C0543669 disease_ontology DOID:0090120 hereditary neutrophilia DOID:0090120 A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34. url:https://www.ncbi.nlm.nih.gov/pubmed/25189721 url:https://www.omim.org/entry/162830 An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. Ulick syndrome disease_ontology DOID:0090121 obsolete apparent mineralocorticoid excess true DOID:0090121 A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. GARD:12949 ICD10CM:E30.1 MIM:139300 ORDO:178345 AEXS familial hyperestrogenism hereditary prepubertal gynecomastia increased aromatase activity disease_ontology DOID:0090122 aromatase excess syndrome DOID:0090122 A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. url:https://ghr.nlm.nih.gov/condition/aromatase-excess-syndrome url:https://www.omim.org/entry/139300 AEXS An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12. GARD:770 ICD10CM:E70.81 MESH:C537437 MIM:608643 NCI:C142085 ORDO:35708 SNOMEDCT_US_2023_03_01:124600004 UMLS_CUI:C1291564 AADC deficiency disease_ontology DOID:0090123 aromatic L-amino acid decarboxylase deficiency DOID:0090123 An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12. url:https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency url:https://www.omim.org/entry/608643 An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35. MESH:C536614 MIM:208100 ORDO:1143 SNOMEDCT_US_2023_03_01:715316005 UMLS_CUI:C1859721 AMC neurogenic type AMC2 AMCN arthrogryposis multiplex congenita 2, neurogenic type arthrogryposis multiplex congenita neurogenic type disease_ontology DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 DOID:0090124 An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35. url:https://www.ncbi.nlm.nih.gov/pubmed/28317099 url:https://www.omim.org/entry/208100 AMC2 AMCN A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. MIM:175780 ORDO:36383 BSVD1 COL4A1-related brain small vessel disease with hemorrhage COL4A1-related familial vascular leukoencephalopathy COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy brain small vessel disease with Axenfeld-Riegar anomaly brain small vessel disease with hemorrhage brain small vessel disease with or without ocular anomalies infantile hemiparesis leukoencephalopathy with Axenfeld-Riegar anomaly disease_ontology DOID:0090125 brain small vessel disease 1 DOID:0090125 A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. url:https://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease url:https://ghr.nlm.nih.gov/condition/familial-porencephaly url:https://www.omim.org/entry/175780 BSVD1 An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11. ICD10CM:E71.1 MIM:614923 ORDO:308410 BCKDK deficiency BCKDKD autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency disease_ontology DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency DOID:0090126 An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11. url:https://www.ncbi.nlm.nih.gov/pubmed/24449431 url:https://www.omim.org/entry/614901 BCKDKD A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. MESH:C537560 MIM:208250 ORDO:2848 SNOMEDCT_US_2023_03_01:771187008 UMLS_CUI:C1859690 CACP CACP syndrome CAP syndrome Jacobs syndrome PAC syndrome arthropathy-camptodactyly syndrome camptodactyly-arthropathy-pericarditis syndrome congenital familial hypertrophic synovitis familial fibrosing serositis pericarditis-arthropathy-camptodactyly syndrome disease_ontology DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome DOID:0090127 A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. url:https://www.ncbi.nlm.nih.gov/pubmed/29397575 url:https://www.omim.org/entry/208250 CACP A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24. GARD:5595 MESH:C535581 MIM:605676 ORDO:65282 DCWHK dilated cardiomyopathy with woolly hair and keratoderma palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair disease_ontology DOID:0090128 Carvajal syndrome DOID:0090128 A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24. url:https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair url:https://www.omim.org/entry/605676 DCWHK A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. GARD:1120 ICD10CM:E71.3 MIM:255120 ORDO:156 CPT I deficiency CPT1A deficiency L-CPT1 deficiency carnitine palmitoyl transferase 1A deficiency carnitine palmitoyl transferase IA deficiency hepatic CPT deficiency type I hepatic carnitine palmitoyl transferase 1 deficiency hepatic carnitine palmitoyl transferase I deficiency disease_ontology DOID:0090129 carnitine palmitoyltransferase I deficiency DOID:0090129 A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. url:https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency url:https://www.omim.org/entry/255120 A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36. ICD10CM:Q04.8 MESH:C567657 MIM:610042 ORDO:163681 CDFE syndrome CDFES PTHSL1 Pitt-Hopkins-like syndrome-1 disease_ontology DOID:0090130 cortical dysplasia-focal epilepsy syndrome DOID:0090130 A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36. url:https://www.ncbi.nlm.nih.gov/pubmed/27439707 url:https://www.omim.org/entry/610042 CDFES PTHSL1 A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations. MIM:PS614039 CDCBM disease_ontology DOID:0090131 complex cortical dysplasia with other brain malformations DOID:0090131 A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations. url:https://www.ncbi.nlm.nih.gov/pubmed/20829227 CDCBM A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. MIM:610031 ORDO:300573 CDCBM7 polymicrogyria due to TUBB2B mutation disease_ontology DOID:0090132 complex cortical dysplasia with other brain malformations 7 DOID:0090132 A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. url:https://ghr.nlm.nih.gov/condition/polymicrogyria url:https://www.ncbi.nlm.nih.gov/pubmed/30016746 url:https://www.omim.org/entry/610031 CDCBM7 A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23. MIM:615282 CDCBM2 disease_ontology DOID:0090133 complex cortical dysplasia with other brain malformations 2 DOID:0090133 A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23. url:https://www.ncbi.nlm.nih.gov/books/NBK350554/ url:https://www.ncbi.nlm.nih.gov/pubmed/29048727 url:https://www.omim.org/entry/615282 CDCBM2 A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12. MIM:615411 CDCBM3 disease_ontology DOID:0090134 complex cortical dysplasia with other brain malformations 3 DOID:0090134 A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12. url:https://www.ncbi.nlm.nih.gov/books/NBK350554/ url:https://www.ncbi.nlm.nih.gov/pubmed/29077851 url:https://www.omim.org/entry/615411 CDCBM3 A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25. MIM:615763 CDCBM5 disease_ontology DOID:0090135 complex cortical dysplasia with other brain malformations 5 DOID:0090135 A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25. url:https://www.ncbi.nlm.nih.gov/books/NBK350554/ url:https://www.omim.org/entry/615763 CDCBM5 A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21. MIM:615771 CDCBM56 disease_ontology DOID:0090136 complex cortical dysplasia with other brain malformations 6 DOID:0090136 A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/30936767 url:https://www.omim.org/entry/615771 CDCBM56 A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3. ICD10CM:Q04.3 MIM:614039 ORDO:300570 CDCBM1 cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation disease_ontology DOID:0090137 complex cortical dysplasia with other brain malformations 1 DOID:0090137 A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3. url:https://www.ncbi.nlm.nih.gov/books/NBK350554/ url:https://www.ncbi.nlm.nih.gov/pubmed/30016746 url:https://www.omim.org/entry/614039 CDCBM1 A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21. MIM:615412 CDCBM4 disease_ontology DOID:0090138 complex cortical dysplasia with other brain malformations 4 DOID:0090138 A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21. url:https://www.ncbi.nlm.nih.gov/books/NBK350554/ url:https://www.omim.org/entry/615412 CDCBM4 An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism. GARD:9882 MESH:C536447 MIM:PS604931 CORTRD disease_ontology DOID:0090139 cortisone reductase deficiency DOID:0090139 An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism. url:https://en.wikipedia.org/wiki/Cortisone_reductase_deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/22476103 CORTRD A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32. MIM:614662 NCI:C131084 CORTRD2 disease_ontology DOID:0090140 cortisone reductase deficiency 2 DOID:0090140 A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32. url:https://www.ncbi.nlm.nih.gov/pubmed/29843121 url:https://www.omim.org/entry/614662 CORTRD2 A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36. MIM:604931 NCI:C131849 CORTRD1 disease_ontology DOID:0090141 cortisone reductase deficiency 1 DOID:0090141 A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/29843121 url:https://www.omim.org/entry/604931 CORTRD1 An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. GARD:2428 ICD10CM:E72.19 MESH:C535408 MIM:219500 NCI:C129070 ORDO:212 SNOMEDCT_US_2023_03_01:13003007 SNOMEDCT_US_2023_03_01:6885006 UMLS_CUI:C0220993 UMLS_CUI:C0268616 cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency disease_ontology DOID:0090142 cystathioninuria DOID:0090142 An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. url:https://www.ncbi.nlm.nih.gov/pubmed/20584029 url:https://www.omim.org/entry/219500 A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. GARD:5478 ICD10CM:Q76.3 MIM:601216 ORDO:2899 DASS STHAG6 dental anomalies and short stature platyspondyly with amelogenesis imperfecta selective tooth agenesis 5 disease_ontology DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome DOID:0090143 A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/30887145 url:https://www.omim.org/entry/601216 DASS STHAG6 A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31. GARD:1899 MESH:C536390 MIM:222448 ORDO:2143 SNOMEDCT_US_2023_03_01:702418009 UMLS_CUI:C1857277 DBS/FOAR syndrome FOAR syndrome Holmes-Schepens syndrome diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria diaphragmatic hernia-exomphalos-hypertelorism syndrome diaphragmatic hernia-hypertelorism-myopia-deafness syndrome facio-oculo-acoustico-renal syndrome faciooculoacousticorenal syndrome syndrome of ocular and facial anomalies, telecanthus and deafness disease_ontology DOID:0090144 Donnai-Barrow syndrome DOID:0090144 A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31. url:https://ghr.nlm.nih.gov/condition/donnai-barrow-syndrome url:https://www.omim.org/entry/222448 An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34. GARD:1903 MESH:C535600 MIM:223360 ORDO:230 SNOMEDCT_US_2023_03_01:237923004 UMLS_CUI:C0342687 congenital dopamine beta-hydroxylase deficiency noradrenaline deficiency norepinephrine deficiency disease_ontology DOID:0090145 dopamine beta-hydroxylase deficiency DOID:0090145 An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34. url:https://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency url:https://www.omim.org/entry/223360 A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26. MIM:610198 ORDO:66634 3-methylglutaconic aciduria type V DCMA DCMA syndrome MGA5 MGCA5 dilated cardiomyopathy with ataxia disease_ontology DOID:0110000 3-methylglutaconic aciduria type 5 DOID:0110000 A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26. url:https://www.ncbi.nlm.nih.gov/pubmed/16055927 DCMA MGA5 MGCA5 A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. MIM:614739 ORDO:352328 3-methylglutaconic aciduria type 6 MEGDEL MEGDEL syndrome MGCA6 disease_ontology DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome DOID:0110001 A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. url:https://www.ncbi.nlm.nih.gov/pubmed/22683713 MEGDEL MGCA6 A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22. MESH:C562801 MIM:250950 ORDO:67046 3-methylglutaconic aciduria type I 3-methylglutaconyl-CoA hydratase deficiency 3MG-CoA hydratase deficiency MGA type I MGA1 disease_ontology DOID:0110002 3-methylglutaconic aciduria type 1 DOID:0110002 A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22. url:https://pubmed.ncbi.nlm.nih.gov/12434311/ MGA1 A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. MIM:616271 ORDO:445038 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type VII MEGCANN MGA7 MGCA7 disease_ontology DOID:0110003 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia DOID:0110003 A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/25597510 MEGCANN MGA7 MGCA7 A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. MIM:258501 ORDO:67047 3-methylglutaconic aciduria type III Costeff optic atrophy syndrome Costeff syndrome Iraqi-Jewish optic atrophy plus MGA3 autosomal recessive optic atrophy plus syndrome autosomal recessive optic atrophy type 3 infantile optic atrophy with chorea and spastic paraplegia disease_ontology DOID:0110004 3-methylglutaconic aciduria type 3 DOID:0110004 A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/11668429 url:https://www.ncbi.nlm.nih.gov/pubmed/12126933 MGA3 A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36. ICD10CM:H35.5 MIM:608553 LCA9 disease_ontology DOID:0110005 Leber congenital amaurosis 9 DOID:0110005 A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/22842230 LCA9 A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid. MESH:C565393 MIM:250951 ORDO:67048 3-methylglutaconic aciduria type IV MGA type IV MGA4 MGCA4 disease_ontology DOID:0110006 3-methylglutaconic aciduria type 4 DOID:0110006 A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid. url:https://www.ncbi.nlm.nih.gov/pubmed/21646875 MGA4 MGCA4 An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11. GARD:9649 MESH:C536128 MIM:216900 ACHM2 RMCH2 rod monochromacy 2 rod monochromatism 2 disease_ontology DOID:0110007 achromatopsia 2 DOID:0110007 An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11. url:https://www.ncbi.nlm.nih.gov/pubmed/11536077 url:https://www.ncbi.nlm.nih.gov/pubmed/9662398 ACHM2 RMCH2 An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. GARD:9650 MESH:C536129 MIM:262300 ACHM1 ACHM3 Pingelapese blindness RMCH1 rod monochromacy 1 rod monochromatism 1 disease_ontology DOID:0110008 achromatopsia 3 DOID:0110008 An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. url:https://www.ncbi.nlm.nih.gov/pubmed/10888875 url:https://www.ncbi.nlm.nih.gov/pubmed/17265047 ACHM1 ACHM3 RMCH1 An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23. MIM:616517 ACHM7 disease_ontology DOID:0110009 achromatopsia 7 DOID:0110009 An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23. url:https://www.ncbi.nlm.nih.gov/pubmed/26029869 url:https://www.ncbi.nlm.nih.gov/pubmed/26063662 ACHM7 An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13. MESH:C564206 MIM:613856 ACHM4 disease_ontology DOID:0110010 achromatopsia 4 DOID:0110010 An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13. url:https://www.ncbi.nlm.nih.gov/pubmed/12205108 ACHM4 An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37. MIM:604348 FASPS1 familial advanced sleep phase syndrome 1 disease_ontology DOID:0110011 advanced sleep phase syndrome 1 DOID:0110011 An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/11232563 FASPS1 An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25. MIM:615224 FASPS2 familial advanced sleep phase syndrome 2 disease_ontology DOID:0110012 advanced sleep phase syndrome 2 DOID:0110012 An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25. url:https://www.ncbi.nlm.nih.gov/pubmed/15800623 FASPS2 An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23. MIM:616882 FASPS3 familial advanced sleep phase syndrome 3 disease_ontology DOID:0110013 advanced sleep phase syndrome 3 DOID:0110013 An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23. url:https://www.ncbi.nlm.nih.gov/pubmed/26903630 FASPS3 An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. MIM:603075 ARMD1 age related maculopathy 1 disease_ontology DOID:0110014 age related macular degeneration 1 DOID:0110014 An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. url:https://www.ncbi.nlm.nih.gov/pubmed/14570714 url:https://www.ncbi.nlm.nih.gov/pubmed/9715689 ARMD1 An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. MIM:153800 ARMD2 disease_ontology DOID:0110015 age related macular degeneration 2 DOID:0110015 An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. url:https://www.ncbi.nlm.nih.gov/pubmed/10396622 ARMD2 A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1. ICD10CM:H35.5 MIM:204100 LCA2 amaurosis congenita of Leber II disease_ontology DOID:0110016 Leber congenital amaurosis 2 DOID:0110016 A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1. url:https://www.ncbi.nlm.nih.gov/pubmed/9326927 LCA2 An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31. MIM:610698 ARMD4 disease_ontology DOID:0110017 age related macular degeneration 4 DOID:0110017 An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31. url:https://www.ncbi.nlm.nih.gov/pubmed/15761120 ARMD4 An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13. MIM:613757 ARMD6 disease_ontology DOID:0110018 age related macular degeneration 6 DOID:0110018 An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/15028672 ARMD6 An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26. MIM:610149 ARMD7 disease_ontology DOID:0110019 age related macular degeneration 7 DOID:0110019 An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26. url:https://www.ncbi.nlm.nih.gov/pubmed/17053108 ARMD7 An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26. MIM:613778 ARMD8 disease_ontology DOID:0110020 age related macular degeneration 8 DOID:0110020 An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26. url:https://www.ncbi.nlm.nih.gov/pubmed/17210852 ARMD8 An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13. MIM:611378 ARMD9 disease_ontology DOID:0110021 age related macular degeneration 9 DOID:0110021 An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/24036952 ARMD9 An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene. MIM:611488 ARMD10 disease_ontology DOID:0110022 age related macular degeneration 10 DOID:0110022 An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene. url:https://www.ncbi.nlm.nih.gov/pubmed/14691731 url:https://www.ncbi.nlm.nih.gov/pubmed/15829498 ARMD10 An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11. MIM:611953 ARMD11 disease_ontology DOID:0110023 age related macular degeneration 11 DOID:0110023 An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11. url:https://www.ncbi.nlm.nih.gov/pubmed/11815350 url:https://www.ncbi.nlm.nih.gov/pubmed/25893795 ARMD11 An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22. MIM:613784 ARMD12 disease_ontology DOID:0110024 age related macular degeneration 12 DOID:0110024 An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22. url:https://www.ncbi.nlm.nih.gov/pubmed/15208270 url:https://www.ncbi.nlm.nih.gov/pubmed/17909628 ARMD12 An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25. MIM:615439 ARMD13 disease_ontology DOID:0110025 age related macular degeneration 13 DOID:0110025 An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25. url:https://www.ncbi.nlm.nih.gov/pubmed/23685748 ARMD13 An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21. MIM:615489 ARMD14 disease_ontology DOID:0110026 age related macular degeneration 14 DOID:0110026 An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/16518403 ARMD14 An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13. MIM:615591 ARMD15 disease_ontology DOID:0110027 age related macular degeneration 15 DOID:0110027 An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13. url:https://www.ncbi.nlm.nih.gov/pubmed/24036952 ARMD15 An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11. MIM:613761 ARMD5 disease_ontology DOID:0110028 age related macular degeneration 5 DOID:0110028 An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11. url:https://www.ncbi.nlm.nih.gov/pubmed/16754848 ARMD5 An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others. ICD10CM:D56.0 MIM:141750 ORDO:98791 ATR syndrome linked to chromosome 16 ATR syndrome, deletion type ATR-16 syndrome alpha thalassemia-intellectual disability syndrome, deletion type alpha thalassemia-retardation syndrome alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 alpha-thalassemia/mental retardation syndrome, deletion-type alpha-thalassemia/mental retardation syndrome, type 1 disease_ontology DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 DOID:0110029 An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others. url:https://www.ncbi.nlm.nih.gov/pubmed/15921166 url:https://www.ncbi.nlm.nih.gov/pubmed/18076105 An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21. GARD:5864 ICD10CM:D56.0 MIM:301040 ORDO:847 ATR, nondeletion type ATR-X syndrome alpha-thalassemia/mental retardation syndrome nondeletion type disease_ontology DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome DOID:0110030 An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21. url:https://www.ncbi.nlm.nih.gov/pubmed/1415255 url:https://www.ncbi.nlm.nih.gov/pubmed/7697714 An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other. ICD10CM:D56.0 MIM:613978 ORDO:93616 HBH alpha thalassemia, haemoglobin H type alpha thalassemia, hemoglobin H type alpha-thalassemia intermedia haemoglobin H disease haemoglobin H disease, deletional hemoglobin H disease, deletional disease_ontology DOID:0110031 hemoglobin H disease DOID:0110031 An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other. url:https://www.ncbi.nlm.nih.gov/pubmed/12393486 HBH An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene. GARD:624 MIM:104200 ORDO:88918 disease_ontology DOID:0110032 autosomal dominant Alport syndrome DOID:0110032 An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/11044206 An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q. GARD:625 MIM:203780 ORDO:88919 disease_ontology DOID:0110033 autosomal recessive Alport syndrome DOID:0110033 An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q. url:https://www.ncbi.nlm.nih.gov/pubmed/25575550 An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5). MIM:301050 ORDO:88917 nephropathy and deafness, X-linked disease_ontology DOID:0110034 X-linked Alport syndrome DOID:0110034 An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5). url:https://www.ncbi.nlm.nih.gov/pubmed/2349482 An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele. ICD10CM:G30 MIM:104310 AD2 Alzheimer disease 2, late onset Alzheimer disease associated with APOE4 Alzheimer disease-2 disease_ontology DOID:0110035 Alzheimer's disease 2 DOID:0110035 An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele. url:https://www.ncbi.nlm.nih.gov/pubmed/8346443 AD2 An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3. MIM:300756 AD16 Alzheimer's disease 16, late onset disease_ontology DOID:0110036 Alzheimer's disease 16 DOID:0110036 An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19136949 AD16 An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12. ICD10CM:G30 MIM:602096 AD5 Alzheimer disease 5 Alzheimer disease, familial 5 Alzheimer's disease 5, late onset disease_ontology DOID:0110037 Alzheimer's disease 5 DOID:0110037 An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12. url:https://www.ncbi.nlm.nih.gov/pubmed/9333264 AD5 An Alzheimer's disease that is characterized by an associated with variation in the region 10q24. ICD10CM:G30 MIM:605526 AD6 Alzheimer disease 6 Alzheimer disease 6, late onset disease_ontology DOID:0110038 Alzheimer's disease 6 DOID:0110038 An Alzheimer's disease that is characterized by an associated with variation in the region 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/16385451 AD6 An Alzheimer's disease that is characterized by an associated with variation in the region 10p13. ICD10CM:G30 MIM:606187 AD7 Alzheimer disease 7 Alzheimer disease, familial 7 disease_ontology DOID:0110039 Alzheimer's disease 7 DOID:0110039 An Alzheimer's disease that is characterized by an associated with variation in the region 10p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11443525 AD7 An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42. MIM:606889 AD4 Alzheimer disease 4 Alzheimer disease, familial4 Alzheimer's disease 4, early onset disease_ontology DOID:0110040 Alzheimer's disease 4 DOID:0110040 An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/12925374 url:https://www.ncbi.nlm.nih.gov/pubmed/7638622 url:https://www.ncbi.nlm.nih.gov/pubmed/7651536 AD4 An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21. ICD10CM:G30 MIM:607116 AD8 Alzheimer disease 8 Alzheimer disease, familial 8 Alzheimer's disease 8, late onset disease_ontology DOID:0110041 Alzheimer's disease 8 DOID:0110041 An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/9008509 AD8 An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24. MIM:607822 AD3 Alzheimer disease 3 Alzheimer disease 3, early onset Alzheimer disease familial 3 disease_ontology DOID:0110042 Alzheimer's disease 3 DOID:0110042 An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24. url:https://www.ncbi.nlm.nih.gov/pubmed/1303290 url:https://www.ncbi.nlm.nih.gov/pubmed/7596406 AD3 An Alzheimer's disease that is characterized by an associated with variation in the region 7q36. ICD10CM:G30 MIM:609636 AD10 Alzheimer disease 10 Alzheimer disease familial 10 Alzheimer's disease 10, early onset disease_ontology DOID:0110043 Alzheimer's disease 10 DOID:0110043 An Alzheimer's disease that is characterized by an associated with variation in the region 7q36. url:https://www.ncbi.nlm.nih.gov/pubmed/16175510 AD10 An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1. ICD10CM:G30 MIM:609790 AD11 Alzheimer disease 11 Alzheimer's disease 11, late onset disease_ontology DOID:0110044 Alzheimer's disease 11 DOID:0110044 An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/18761660 AD11 An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22. ICD10CM:G30 MIM:611073 AD12 Alzheimer disease 12 Alzheimer disease familial 12 disease_ontology DOID:0110045 Alzheimer's disease 12 DOID:0110045 An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22. url:https://www.ncbi.nlm.nih.gov/pubmed/16825432 AD12 An Alzheimer's disease that is characterized by an associated with variation in the region 1q21. ICD10CM:G30 MIM:611152 AD13 Alzheimer disease 13 Alzheimer's disease 13, late onset disease_ontology DOID:0110046 Alzheimer's disease 13 DOID:0110046 An Alzheimer's disease that is characterized by an associated with variation in the region 1q21. url:https://www.ncbi.nlm.nih.gov/pubmed/17564960 AD13 An Alzheimer's disease that is characterized by an associated with variation in the region 1q25. ICD10CM:G30 MIM:611154 AD14 Alzheimer disease 14 Alzheimer's disease 14, late onset disease_ontology DOID:0110047 Alzheimer's disease 14 DOID:0110047 An Alzheimer's disease that is characterized by an associated with variation in the region 1q25. url:https://www.ncbi.nlm.nih.gov/pubmed/17564960 AD14 An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24. GARD:7190 ICD10CM:G30 MIM:604154 AD15 Alzheimer disease 15 Alzheimer's disease 15, late onset disease_ontology DOID:0110048 Alzheimer's disease 15 DOID:0110048 An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24. url:https://www.ncbi.nlm.nih.gov/pubmed/17564960 AD15 An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2. MIM:615080 AD17 Alzheimer disease 17 Alzheimer disease 17, late onset disease_ontology DOID:0110049 Alzheimer's disease 17 DOID:0110049 An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2. url:https://www.ncbi.nlm.nih.gov/pubmed/23150934 AD17 An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21. MIM:615590 AD18 Alzheimer disease 18 Alzheimer's disease 18, late onset disease_ontology DOID:0110050 Alzheimer's disease 18 DOID:0110050 An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21. url:https://www.ncbi.nlm.nih.gov/pubmed/19608551 AD18 An Alzheimer's disease that is characterized by associated variants of the gene PLD3. MIM:615711 AD19 Alzheimer disease 19 Alzheimer disease 19 late onset disease_ontology DOID:0110051 Alzheimer's disease 19 DOID:0110051 An Alzheimer's disease that is characterized by associated variants of the gene PLD3. url:https://www.ncbi.nlm.nih.gov/pubmed/24336208 url:https://www.ncbi.nlm.nih.gov/pubmed/25832408 AD19 An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13. ICD10CM:K00.5 MIM:104500 AI1B AIH2 amelogenesis imperfecta type IB autosomal dominant hypoplastic local amelogenesis imperfecta hereditary localized enamel hypoplasia disease_ontology DOID:0110052 amelogenesis imperfecta type 1B DOID:0110052 An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13. url:https://www.ncbi.nlm.nih.gov/pubmed/11487571 AI1B AIH2 An amelogenesis imperfecta which can has_material_basis_in mutation in the DLX3 gene. ICD10CM:K00.5 MIM:104510 AI4 AIHHT amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism disease_ontology DOID:0110053 amelogenesis imperfecta type 4 DOID:0110053 An amelogenesis imperfecta which can has_material_basis_in mutation in the DLX3 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/15666299 AI4 AIHHT An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32. ICD10CM:K00.5 MIM:104530 AI1A amelogenesis imperfecta hypoplastic type IA amelogenesis imperfecta type IA disease_ontology DOID:0110054 amelogenesis imperfecta type 1A DOID:0110054 An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32. url:https://www.ncbi.nlm.nih.gov/pubmed/23632796 url:https://www.ncbi.nlm.nih.gov/pubmed/23958762 AI1A An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24. ICD10CM:K00.5 MIM:130900 ADHCAI amelogenesis imperfecta hypomineralization type amelogenesis imperfecta type III autosomal dominant amelogenesis imperfecta hypocalcification type disease_ontology DOID:0110055 amelogenesis imperfecta type 3A DOID:0110055 An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24. url:https://www.ncbi.nlm.nih.gov/pubmed/18252228 url:https://www.ncbi.nlm.nih.gov/pubmed/18484629 ADHCAI An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM). ICD10CM:K00.5 MIM:204650 AI1C amelogenesis imperfecta type IC autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive amelogenesis imperfecta local hypoplastic type disease_ontology DOID:0110056 amelogenesis imperfecta type 1C DOID:0110056 An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM). url:https://www.ncbi.nlm.nih.gov/pubmed/14684688 AI1C An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13. GARD:9495 ICD10CM:K00.5 MIM:204700 AI2A1 amelogenesis imperfecta pigmented hypomaturation type 1 amelogenesis imperfecta type IIA1 disease_ontology DOID:0110057 amelogenesis imperfecta type 2A1 DOID:0110057 An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/15235027 url:https://www.ncbi.nlm.nih.gov/pubmed/23355523 AI2A1 An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX). ICD10CM:K00.5 MIM:301200 AIH1 X-linked amelogenesis imperfecta 1 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1 amelogenesis imperfecta hypomaturationtype with snow-capped teeth amelogenesis imperfecta type IE disease_ontology X-linked enamel hypoplasia DOID:0110058 amelogenesis imperfecta type 1E DOID:0110058 An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX). url:https://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta url:https://www.omim.org/entry/301200 AIH1 An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. ICD10CM:K00.5 MIM:301201 AIH3 amelogenesis imperfecta 3 hypoplastic type amelogenesis imperfecta type IE X-linked 2 disease_ontology X-linked enamel hypoplasia DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 DOID:0110059 An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. url:https://www.ncbi.nlm.nih.gov/pubmed/1358807 AIH3 An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20). ICD10CM:K00.5 MIM:612529 AI2A2 amelogenesis imperfecta hypomaturation type IIA2 amelogenesis imperfecta pigmented hypomaturation type 2 amelogenesis imperfecta type IIA2 disease_ontology DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 DOID:0110060 An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20). url:https://www.ncbi.nlm.nih.gov/pubmed/15744043 AI2A2 An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene. ICD10CM:K00.5 MIM:613211 AI2A3 amelogenesis imperfecta hypomaturation type IIA3 amelogenesis imperfecta type IIA3 disease_ontology DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 DOID:0110061 An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/19853237 AI2A3 An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21. ICD10CM:K00.5 MIM:614832 AI2A4 amelogenesis imperfecta hypomaturation type IIA4 amelogenesis imperfecta type IIA4 disease_ontology DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 DOID:0110062 An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21. url:https://www.ncbi.nlm.nih.gov/pubmed/22901946 AI2A4 An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32. ICD10CM:K00.5 MIM:615887 AI2A5 amelogenesis imperfecta hypomaturation type IIA5 amelogenesis imperfecta type IIA5 disease_ontology DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 DOID:0110063 An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/23375655 AI2A5 An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24. ICD10CM:K00.5 MIM:616221 AI1H amelogenesis imperfecta type IH disease_ontology DOID:0110064 amelogenesis imperfecta type 1H DOID:0110064 An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24. url:https://www.ncbi.nlm.nih.gov/pubmed/24305999 url:https://www.ncbi.nlm.nih.gov/pubmed/24319098 AI1H An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13. ICD10CM:K00.5 MIM:616270 AI1F amelogenesis imperfecta hypoplastic type IF amelogenesis imperfecta type IF disease_ontology DOID:0110065 amelogenesis imperfecta type 1F DOID:0110065 An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13. url:https://www.ncbi.nlm.nih.gov/pubmed/24858907 AI1F An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24. ICD10CM:K00.5 MIM:204690 ORDO:1031 AI1G AIGFS ERS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type IG enamel-renal syndrome enamel-renal-gingival syndrome disease_ontology DOID:0110066 amelogenesis imperfecta type 1G DOID:0110066 An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24. url:https://www.ncbi.nlm.nih.gov/pubmed/23468644 url:https://www.ncbi.nlm.nih.gov/pubmed/24196488 AI1G AIGFS ERS A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia. MIM:205200 ALS-dementia complex disease_ontology DOID:0110067 juvenile amyotrophic lateral sclerosis with dementia DOID:0110067 A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia. url:https://www.ncbi.nlm.nih.gov/pubmed/5692341 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35. MIM:616437 FTDALS3 disease_ontology DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 DOID:0110068 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35. url:https://www.ncbi.nlm.nih.gov/pubmed/22084127 FTDALS3 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14. MIM:616439 FTDALS4 disease_ontology DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 DOID:0110069 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14. url:https://www.ncbi.nlm.nih.gov/pubmed/25700176 FTDALS4 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. ICD10CM:I42.8 ICD10CM:Q24.8 MESH:C536932 MIM:107970 ARVC1 Uhl anomaly arrhythmogenic right ventricular cardiomyopathy 1 disease_ontology DOID:0110070 arrhythmogenic right ventricular dysplasia 1 DOID:0110070 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. url:https://www.ncbi.nlm.nih.gov/pubmed/15639475 ARVC1 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43. ARVC2 ARVD2 arrhythmogenic right ventricular cardiomyopathy 2 familial arrhythmogenic right ventricular dysplasia 2 disease_ontology DOID:0110071 obsolete arrhythmogenic right ventricular dysplasia 2 true DOID:0110071 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43. url:https://www.ncbi.nlm.nih.gov/pubmed/11159936 An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. ICD10CM:I42.8 MIM:602086 ARVC3 ARVD3 arrhythmogenic right ventricular cardiomyopathy 3 familial arrhythmogenic right ventricular dysplasia 3 disease_ontology DOID:0110072 arrhythmogenic right ventricular dysplasia 3 DOID:0110072 An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. url:https://www.ncbi.nlm.nih.gov/pubmed/8824801 ARVC3 ARVD3 An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. ICD10CM:I42.8 MIM:602087 ARVC4 ARVD4 arrhythmogenic right ventricular cardiomyopathy 4 familial arrhythmogenic right ventricular dysplasia 4 disease_ontology DOID:0110073 arrhythmogenic right ventricular dysplasia 4 DOID:0110073 An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. url:https://www.ncbi.nlm.nih.gov/pubmed/9344647 ARVC4 ARVD4 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25. ICD10CM:I42.8 MIM:604400 ARVC5 ARVD5 arrhythmogenic right ventricular cardiomyopathy 5 familial arrhythmogenic right ventricular dysplasia 5 disease_ontology DOID:0110074 arrhythmogenic right ventricular dysplasia 5 DOID:0110074 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25. url:https://www.ncbi.nlm.nih.gov/pubmed/18313022 ARVC5 ARVD5 An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. ICD10CM:I42.8 MIM:604401 ARVC6 ARVD6 arrhythmogenic right ventricular cardiomyopathy 6 familial arrhythmogenic right ventricular dysplasia 6 disease_ontology DOID:0110075 arrhythmogenic right ventricular dysplasia 6 DOID:0110075 An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. url:https://www.ncbi.nlm.nih.gov/pubmed/10631146 ARVC6 ARVD6 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24. ICD10CM:I42.8 MIM:607450 ARVC8 ARVD8 arrhythmogenic right ventricular cardiomyopathy 8 familial arrhythmogenic right ventricular dysplasia 8 disease_ontology DOID:0110076 arrhythmogenic right ventricular dysplasia 8 DOID:0110076 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24. url:https://www.ncbi.nlm.nih.gov/pubmed/12373648 ARVC8 ARVD8 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11. ICD10CM:I42.8 MIM:609040 ARVC9 ARVD9 arrhythmogenic right ventricular cardiomyopathy 9 familial arrhythmogenic right ventricular dysplasia 9 disease_ontology DOID:0110077 arrhythmogenic right ventricular dysplasia 9 DOID:0110077 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11. url:https://www.ncbi.nlm.nih.gov/pubmed/15489853 ARVC9 ARVD9 A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13. ICD10CM:H35.5 MIM:204000 LCA1 amaurosis congenita of Leber I disease_ontology DOID:0110078 Leber congenital amaurosis 1 DOID:0110078 A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/8944027 LCA1 A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32. ICD10CM:H35.5 MIM:613835 LCA8 disease_ontology DOID:0110079 Leber congenital amaurosis 8 DOID:0110079 A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32. url:https://www.ncbi.nlm.nih.gov/pubmed/11231775 LCA8 A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32. ICD10CM:H35.5 MESH:C565697 MIM:610612 LCA12 disease_ontology DOID:0110080 Leber congenital amaurosis 12 DOID:0110080 A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32. url:https://www.ncbi.nlm.nih.gov/pubmed/17186464 LCA12 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12. ICD10CM:I42.8 MIM:610193 ARVC10 ARVD10 arrhythmogenic right ventricular cardiomyopathy 10 familial arrhythmogenic right ventricular dysplasia 10 disease_ontology DOID:0110081 arrhythmogenic right ventricular dysplasia 10 DOID:0110081 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12. url:https://www.ncbi.nlm.nih.gov/pubmed/16505173 url:https://www.ncbi.nlm.nih.gov/pubmed/17105751 ARVC10 ARVD10 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q. ICD10CM:I42.8 MIM:610476 ARVC11 ARVD11 arrhythmogenic right ventricular cardiomyopathy 11 familial arrhythmogenic right ventricular dysplasia 11 disease_ontology DOID:0110082 arrhythmogenic right ventricular dysplasia 11 DOID:0110082 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q. url:https://www.ncbi.nlm.nih.gov/pubmed/17033975 ARVC11 ARVD11 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21. ICD10CM:I42.8 MIM:611528 ARVC12 ARVD12 arrhythmogenic right ventricular cardiomyopathy 12 familial arrhythmogenic right ventricular dysplasia 12 disease_ontology DOID:0110083 arrhythmogenic right ventricular dysplasia 12 DOID:0110083 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21. url:https://pubmed.ncbi.nlm.nih.gov/17924338/ ARVC12 ARVD12 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21. ICD10CM:I42.8 MIM:615616 ARVC13 ARVD13 arrhythmogenic right ventricular cardiomyopathy 13 familial arrhythmogenic right ventricular dysplasia 13 disease_ontology DOID:0110084 arrhythmogenic right ventricular dysplasia 13 DOID:0110084 An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21. url:https://www.ncbi.nlm.nih.gov/pubmed/23136403 ARVC13 ARVD13 An asphyxiating thoracic dystrophy associated with variation in the region 15q13. ICD10CM:Q77.2 MIM:208500 ATD1 SRTD1 short-rib thoracic dysplasia 1 with or without polydactyly disease_ontology DOID:0110085 asphyxiating thoracic dystrophy 1 DOID:0110085 An asphyxiating thoracic dystrophy associated with variation in the region 15q13. url:https://www.ncbi.nlm.nih.gov/pubmed/20503315 ATD1 SRTD1 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. ICD10CM:Q77.2 MESH:C566982 MIM:611263 ATD2 SRTD2 short-rib thoracic dysplasia 2 with or without polydactyly disease_ontology DOID:0110086 asphyxiating thoracic dystrophy 2 DOID:0110086 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. url:https://www.ncbi.nlm.nih.gov/pubmed/17468754 ATD2 SRTD2 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. DOID:0050549 ICD10CM:Q77.2 MIM:613091 ATD3 SRPS1 SRPS2B SRPS3 SRTD3 Saldino-Noonan syndrome Verma-Naumoff syndrome polydactyly with neonatal chondrodystrophy, type I polydactyly with neonatal chondrodystrophy, type III short rib-polydactyly syndrome, type I short rib-polydactyly syndrome, type IIB short-rib thoracic dysplasia 3 with or without polydactyly disease_ontology DOID:0110087 asphyxiating thoracic dystrophy 3 DOID:0110087 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. url:https://www.ncbi.nlm.nih.gov/pubmed/19442771 ATD3 SRPS1 SRPS2B SRPS3 SRTD3 An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. ICD10CM:Q77.2 MIM:613819 ATD4 SRTD4 short-rib thoracic dysplasia 4 with or without polydactyly disease_ontology DOID:0110088 asphyxiating thoracic dystrophy 4 DOID:0110088 An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21258341 ATD4 SRTD4 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. ICD10CM:Q77.2 MIM:614376 ATD5 SRTD5 short-rib thoracic dysplasia 5 with or without polydactyly disease_ontology DOID:0110089 asphyxiating thoracic dystrophy 5 DOID:0110089 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. url:https://www.ncbi.nlm.nih.gov/pubmed/22019273 ATD5 SRTD5 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. ICD10CM:Q77.2 MIM:614091 SRPS5 SRTD7 short rib-polydactyly syndrome type V disease_ontology DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly DOID:0110090 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17935248 url:https://www.ncbi.nlm.nih.gov/pubmed/21473986 SRPS5 SRTD7 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. ICD10CM:Q77.2 ICD10CM:Q87.5 MIM:615630 SRTD10 disease_ontology DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly DOID:0110091 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. url:https://www.ncbi.nlm.nih.gov/pubmed/24140113 SRTD10 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33. ICD10CM:Q77.2 MIM:263520 Majewski syndrome SRPS2A SRTD6 polydactyly with neonatal chondrodystrophy, type II short rib-polydactyly syndrome type IIA disease_ontology DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly DOID:0110092 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33. url:https://www.ncbi.nlm.nih.gov/pubmed/21211617 url:https://www.ncbi.nlm.nih.gov/pubmed/22499340 SRPS2A SRTD6 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23. ICD10CM:Q77.2 MIM:616300 SRTD13 disease_ontology DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly DOID:0110093 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23. url:https://www.ncbi.nlm.nih.gov/pubmed/25361962 SRTD13 An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. ICD10CM:Q77.2 MIM:615503 SRPS6 SRTD8 short rib-polydactyly syndrome type VI disease_ontology DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly DOID:0110094 An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. url:https://www.ncbi.nlm.nih.gov/pubmed/23910462 SRPS6 SRTD8 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. ICD10CM:Q77.2 MIM:615633 SRTD11 disease_ontology DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly DOID:0110095 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/24183449 SRTD11 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23. ICD10CM:Q04.3 MIM:616546 SRTD14 disease_ontology DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly DOID:0110096 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23. url:https://www.ncbi.nlm.nih.gov/pubmed/26166481 SRTD14 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. ICD10CM:Q87.5 MIM:266920 SRTD9 renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia disease_ontology DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly DOID:0110097 An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/22503633 SRTD9 An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21. MIM:605803 ATOD2 disease_ontology DOID:0110098 atopic dermatitis 2 DOID:0110098 An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21. url:https://www.ncbi.nlm.nih.gov/pubmed/16912508 ATOD2 An atopic dermatitis associated with variation in the region 20p. MIM:605804 ATOD3 atopic dermatitis with asthma disease_ontology DOID:0110099 atopic dermatitis 3 DOID:0110099 An atopic dermatitis associated with variation in the region 20p. url:https://www.ncbi.nlm.nih.gov/pubmed/11279517 ATOD3 An atopic dermatitis associated with variation in the region 17q25.3. MIM:605805 ATOD4 disease_ontology DOID:0110100 atopic dermatitis 4 DOID:0110100 An atopic dermatitis associated with variation in the region 17q25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11279517 ATOD4 An atopic dermatitis associated with variation in the region 13q12-q14. MIM:605844 ATOD5 disease_ontology DOID:0110101 atopic dermatitis 5 DOID:0110101 An atopic dermatitis associated with variation in the region 13q12-q14. url:https://www.ncbi.nlm.nih.gov/pubmed/11069631 ATOD5 An atopic dermatitis associated with variation in the region 5q31-q33. MIM:605845 ATOD6 disease_ontology DOID:0110102 atopic dermatitis 6 DOID:0110102 An atopic dermatitis associated with variation in the region 5q31-q33. url:https://www.ncbi.nlm.nih.gov/pubmed/11069631 ATOD6 An atopic dermatitis associated with variation in the region 11q13.5. MIM:613064 ATOD7 disease_ontology DOID:0110103 atopic dermatitis 7 DOID:0110103 An atopic dermatitis associated with variation in the region 11q13.5. url:https://www.ncbi.nlm.nih.gov/pubmed/19349984 ATOD7 An atopic dermatitis associated with variation in the region 4q22.1. MIM:613518 ATOD8 disease_ontology DOID:0110104 atopic dermatitis 8 DOID:0110104 An atopic dermatitis associated with variation in the region 4q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/19517137 ATOD8 An atopic dermatitis associated with variation in the region 3p24. MIM:613519 ATOD9 disease_ontology DOID:0110105 atopic dermatitis 9 DOID:0110105 An atopic dermatitis associated with variation in the region 3p24. url:https://www.ncbi.nlm.nih.gov/pubmed/19517137 ATOD9 An atrial heart septal defect type 1 associated with variation in the region 5p. ICD10CM:Q21.1 MIM:108800 ASD1 atrial septal defect 1 disease_ontology DOID:0110106 atrial heart septal defect 1 DOID:0110106 An atrial heart septal defect type 1 associated with variation in the region 5p. url:https://www.ncbi.nlm.nih.gov/pubmed/9610535 ASD1 An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the GATA4 gene on chromosome 8p23. ICD10CM:Q21.1 MIM:607941 ASD2 atrial septal defect 2 disease_ontology DOID:0110107 atrial heart septal defect 2 DOID:0110107 An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the GATA4 gene on chromosome 8p23. url:https://www.ncbi.nlm.nih.gov/pubmed/12845333 ASD2 An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12. ICD10CM:Q21.1 MIM:614089 ASD3 atrial septal defect 3 disease_ontology DOID:0110108 atrial heart septal defect 3 DOID:0110108 An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12. url:https://www.ncbi.nlm.nih.gov/pubmed/15735645 ASD3 An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene. ICD10CM:Q21.1 MIM:611363 ASD4 atrial septal defect 4 disease_ontology DOID:0110109 atrial heart septal defect 4 DOID:0110109 An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/17668378 ASD4 An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. ICD10CM:Q21.1 MIM:612794 ASD5 atrial septal defect 5 disease_ontology DOID:0110110 atrial heart septal defect 5 DOID:0110110 An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. url:https://www.ncbi.nlm.nih.gov/pubmed/17947298 ASD5 An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32. ICD10CM:Q21.1 MIM:613087 ASD6 atrial septal defect 6 disease_ontology DOID:0110111 atrial heart septal defect 6 DOID:0110111 An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32. url:https://www.ncbi.nlm.nih.gov/pubmed/18830233 ASD6 An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. ICD10CM:Q21.1 MIM:108900 ORDO:1479 ASD with or without atrioventricular conduction defects atrial septal defect 7, with or without AV conduction defects atrial septal defect-atrioventricular conduction defects syndrome disease_ontology DOID:0110112 atrial heart septal defect 7 DOID:0110112 An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. url:https://www.ncbi.nlm.nih.gov/pubmed/9651244 An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3. ICD10CM:Q21.1 MIM:614433 ASD8 atrial septal defect 8 disease_ontology DOID:0110113 atrial heart septal defect 8 DOID:0110113 An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/16287139 ASD8 An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11. ICD10CM:Q21.1 MIM:614475 ASD9 atrial septal defect 9 disease_ontology DOID:0110114 atrial heart septal defect 9 DOID:0110114 An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11. url:https://www.ncbi.nlm.nih.gov/pubmed/20631719 ASD9 An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene. ICD10CM:D47.9 MESH:C565833 MIM:603909 ALPS2A autoimmune lymphoproliferative syndrome type IIA disease_ontology DOID:0110115 autoimmune lymphoproliferative syndrome type 2A DOID:0110115 An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/16446975 ALPS2A An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33. ICD10CM:D47.9 MIM:607271 ORDO:275517 ALPS with recurrent viral infections ALPS2B CEDS Caspase 8 deficiency Caspase 8 deficiency syndrome Caspase eight deficiency state autoimmune lymphoproliferative syndrome type IIB autoimmune lymphoproliferative syndrome with recurrent viral infections disease_ontology DOID:0110116 autoimmune lymphoproliferative syndrome type 2B DOID:0110116 An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33. url:https://www.ncbi.nlm.nih.gov/pubmed/12353035 ALPS2B CEDS An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12. ICD10CM:D72.8 MIM:614470 ORDO:268114 ALPS type 4 ALPS type IV ALPS4 RALD RAS-associated autoimmune leukoproliferative disease RAS-associated autoimmune leukoproliferative disorder autoimmune lymphoproliferative syndrome type IV disease_ontology DOID:0110117 autoimmune lymphoproliferative syndrome type 4 DOID:0110117 An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12. url:https://pubmed.ncbi.nlm.nih.gov/24240292/ ALPS4 RALD A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37. ICD10CM:H35.5 MIM:614186 LCA16 disease_ontology DOID:0110118 Leber congenital amaurosis 16 DOID:0110118 A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/21763485 LCA16 An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21. MIM:615559 ALPS3 autoimmune lymphoproliferative syndrome type III disease_ontology DOID:0110119 autoimmune lymphoproliferative syndrome type 3 DOID:0110119 An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/23319571 url:https://www.ncbi.nlm.nih.gov/pubmed/23666743 ALPS3 An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. ICD10CM:Q13.8 MIM:180500 RIEG1 Rieger syndrome type 1 disease_ontology DOID:0110120 Axenfeld-Rieger syndrome type 1 DOID:0110120 An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. url:https://www.ncbi.nlm.nih.gov/pubmed/8944018 RIEG1 An Axenfeld-Rieger syndrome that has_material_basis_in deletions in the region 13q14. ICD10CM:Q13.8 MIM:601499 RIEG2 Rieger syndrome type 2 disease_ontology DOID:0110121 Axenfeld-Rieger syndrome type 2 DOID:0110121 An Axenfeld-Rieger syndrome that has_material_basis_in deletions in the region 13q14. url:https://www.ncbi.nlm.nih.gov/pubmed/8751862 RIEG2 An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. ICD10CM:Q13.8 MIM:602482 Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss RIEG3 Rieger syndrome type 3 anterior chamber cleavage syndrome anterior segment mesenchymal dysgenesis disease_ontology DOID:0110122 Axenfeld-Rieger syndrome type 3 DOID:0110122 An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. url:https://www.ncbi.nlm.nih.gov/pubmed/9792859 RIEG3 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13. GARD:820 ICD10CM:Q87.89 MESH:C537909 MIM:209900 BBS1 disease_ontology DOID:0110123 Bardet-Biedl syndrome 1 DOID:0110123 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/20177705 BBS1 A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13. GARD:821 ICD10CM:Q87.89 MESH:C537910 MIM:615981 BBS2 disease_ontology DOID:0110124 Bardet-Biedl syndrome 2 DOID:0110124 A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13. url:https://www.ncbi.nlm.nih.gov/pubmed/16823392 BBS2 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11. GARD:822 ICD10CM:Q87.89 MESH:C537911 MIM:600151 BBS3 disease_ontology DOID:0110125 Bardet-Biedl syndrome 3 DOID:0110125 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11. url:https://www.ncbi.nlm.nih.gov/pubmed/15314642 BBS3 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24. GARD:823 ICD10CM:Q87.89 MESH:C537912 MIM:615982 BBS4 disease_ontology DOID:0110126 Bardet-Biedl syndrome 4 DOID:0110126 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24. url:https://www.ncbi.nlm.nih.gov/pubmed/11381270 BBS4 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31. GARD:10204 ICD10CM:Q87.89 MIM:615983 BBS5 disease_ontology DOID:0110127 Bardet-Biedl syndrome 5 DOID:0110127 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/15137946 BBS5 A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12. GARD:10205 ICD10CM:Q87.89 MESH:C565738 MIM:605231 BBS6 disease_ontology DOID:0110128 Bardet-Biedl syndrome 6 DOID:0110128 A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12. url:https://www.ncbi.nlm.nih.gov/pubmed/10973238 url:https://www.ncbi.nlm.nih.gov/pubmed/10973251 BBS6 A Bardet-Biedl syndrome characterized by retinitis pigmentosa, postaxial polydactyly, impaired intellectual development, obesity, renal anomalies, and hypogenitalism that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27. GARD:10206 ICD10CM:Q87.89 MESH:C565916 MIM:615984 BBS7 disease_ontology DOID:0110129 Bardet-Biedl syndrome 7 DOID:0110129 A Bardet-Biedl syndrome characterized by retinitis pigmentosa, postaxial polydactyly, impaired intellectual development, obesity, renal anomalies, and hypogenitalism that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27. url:https://pubmed.ncbi.nlm.nih.gov/19797195/ url:https://www.ncbi.nlm.nih.gov/pubmed/12567324 BBS7 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31. GARD:10207 ICD10CM:Q87.89 MESH:C565917 MIM:615985 BBS8 disease_ontology DOID:0110130 Bardet-Biedl syndrome 8 DOID:0110130 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31. url:https://www.ncbi.nlm.nih.gov/pubmed/14520415 url:https://www.ncbi.nlm.nih.gov/pubmed/16308660 BBS8 A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14. GARD:10208 ICD10CM:Q87.89 MESH:C565918 MIM:615986 BBS9 disease_ontology DOID:0110131 Bardet-Biedl syndrome 9 DOID:0110131 A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14. url:https://www.ncbi.nlm.nih.gov/pubmed/16380913 BBS9 A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21. GARD:10209 ICD10CM:Q87.89 MESH:C565919 MIM:615987 BBS10 disease_ontology DOID:0110132 Bardet-Biedl syndrome 10 DOID:0110132 A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21. url:https://www.ncbi.nlm.nih.gov/pubmed/16582908 BBS10 A Bardet-Biedl syndrome that has_material_basis_in mutation in the TRIM32 gene on chromosome 9q33. GARD:10210 ICD10CM:Q87.89 MESH:C565920 MIM:615988 BBS11 disease_ontology DOID:0110133 Bardet-Biedl syndrome 11 DOID:0110133 A Bardet-Biedl syndrome that has_material_basis_in mutation in the TRIM32 gene on chromosome 9q33. url:https://www.ncbi.nlm.nih.gov/pubmed/16606853 BBS11 A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27. GARD:10211 ICD10CM:Q87.89 MESH:C565921 MIM:615989 BBS12 disease_ontology DOID:0110134 Bardet-Biedl syndrome 12 DOID:0110134 A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27. url:https://www.ncbi.nlm.nih.gov/pubmed/17160889 url:https://www.ncbi.nlm.nih.gov/pubmed/19797195 BBS12 A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22. ICD10CM:Q87.89 MESH:C567140 MIM:615990 BBS13 disease_ontology DOID:0110135 Bardet-Biedl syndrome 13 DOID:0110135 A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22. url:https://www.ncbi.nlm.nih.gov/pubmed/18327255 BBS13 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21. ICD10CM:Q87.89 MESH:C567141 MIM:615991 BBS14 disease_ontology DOID:0110136 Bardet-Biedl syndrome 14 DOID:0110136 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21. url:https://www.ncbi.nlm.nih.gov/pubmed/18327255 BBS14 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the WDPCP gene on chromosome 2p15. ICD10CM:Q87.89 MIM:615992 BBS15 disease_ontology DOID:0110137 Bardet-Biedl syndrome 15 DOID:0110137 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the WDPCP gene on chromosome 2p15. url:https://www.ncbi.nlm.nih.gov/pubmed/20671153 BBS15 A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43. ICD10CM:Q87.89 MIM:615993 BBS16 disease_ontology DOID:0110138 Bardet-Biedl syndrome 16 DOID:0110138 A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43. url:https://www.ncbi.nlm.nih.gov/pubmed/20835237 url:https://www.ncbi.nlm.nih.gov/pubmed/22626039 BBS16 A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21. ICD10CM:Q87.89 MIM:615994 BBS17 disease_ontology DOID:0110139 Bardet-Biedl syndrome 17 DOID:0110139 A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/22510444 url:https://www.ncbi.nlm.nih.gov/pubmed/23692385 BBS17 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25. ICD10CM:Q87.89 MIM:615995 BBS18 disease_ontology DOID:0110140 Bardet-Biedl syndrome 18 DOID:0110140 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25. url:https://www.ncbi.nlm.nih.gov/pubmed/24026985 BBS18 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12. ICD10CM:Q87.89 MIM:615996 BBS19 disease_ontology DOID:0110141 Bardet-Biedl syndrome 19 DOID:0110141 A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12. url:https://www.ncbi.nlm.nih.gov/pubmed/24488770 BBS19 A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21. ICD10CM:E26.8 MIM:601678 BARTS1 Bartter syndrome type 1 Bartter syndrome type 1 antenatal hyperprostaglandin E syndrome 1 hypokalemic alkalosis with hypercalciuria 1 antenatal disease_ontology DOID:0110142 Bartter disease type 1 DOID:0110142 A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21. url:https://www.ncbi.nlm.nih.gov/pubmed/9355073 BARTS1 A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. ICD10CM:E26.8 MIM:241200 BARTS2 Bartter syndrome type 2 Bartter syndrome type 2 antenatal hyperprostaglandin E syndrome 2 hypokalemic alkalosis with hypercalciuria 2 antenatal disease_ontology DOID:0110143 Bartter disease type 2 DOID:0110143 A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. url:https://www.ncbi.nlm.nih.gov/pubmed/9326936 BARTS2 A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36. GARD:9659 ICD10CM:E26.8 MIM:607364 BARTS3 Bartter syndrome type 3 classic Bartter syndrome disease_ontology DOID:0110144 Bartter disease type 3 DOID:0110144 A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/9326936 BARTS3 A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32. ICD10CM:E26.8 MIM:602522 BARTS4A BSND Bartter syndrome type 4a neonatal Bartter syndrome with sensorineural deafness disease_ontology DOID:0110145 Bartter disease type 4a DOID:0110145 A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32. url:https://www.ncbi.nlm.nih.gov/pubmed/11687798 BARTS4A BSND A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes. ICD10CM:E26.8 MIM:613090 BARTS4B Bartter syndrome, type 4b, digenic neonatal Bartter syndrome type 4B with sensorineural deafness disease_ontology DOID:0110146 Bartter disease type 4b DOID:0110146 A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes. url:https://www.ncbi.nlm.nih.gov/pubmed/15044642 BARTS4B A Bartter disease that has_material_basis_in mutation in the MAGED2 gene on chromosome Xp11. ICD10CM:E26.8 MIM:300971 BARTS5 Bartter syndrome, type 5, antenatal, transient disease_ontology DOID:0110147 Bartter disease type 5 DOID:0110147 A Bartter disease that has_material_basis_in mutation in the MAGED2 gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/27120771 BARTS5 A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). GARD:1245 ICD10CM:G60.0 MIM:118220 ORDO:101081 CMT1A Charcot-Marie-Tooth neuropathy type 1A HMSN1A autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A hereditary motor and sensory neuropathy 1A microduplication 17p12 disease_ontology DOID:0110148 Charcot-Marie-Tooth disease type 1A DOID:0110148 A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). url:https://www.ncbi.nlm.nih.gov/pubmed/1677316 url:https://www.ncbi.nlm.nih.gov/pubmed/21326314 CMT1A HMSN1A A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene. ICD10CM:G60.0 MIM:607734 ORDO:101085 CMT1F Charcot-Marie-Tooth neuropathy type 1F disease_ontology DOID:0110149 Charcot-Marie-Tooth disease type 1F DOID:0110149 A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene. url:https://www.ncbi.nlm.nih.gov/pubmed/12566280 CMT1F A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). ICD10CM:G60.0 MESH:C537985 MIM:607678 ORDO:101084 CMT1D Charcot-Marie-Tooth neuropathy type 1D HMSN ID HMSN1D hereditary motor and sensory neuropathy 1D disease_ontology DOID:0110150 Charcot-Marie-Tooth disease type 1D DOID:0110150 A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). url:https://www.ncbi.nlm.nih.gov/pubmed/9537424 CMT1D HMSN ID HMSN1D A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. ICD10CM:G60.0 MESH:C537984 MIM:601098 ORDO:101083 CMT slow nerve conduction type C CMT1C Charcot-Marie-Tooth neuropathy type 1C HMSN IC HMSN1C neuropathy hereditary motor and sensory type 1C disease_ontology DOID:0110151 Charcot-Marie-Tooth disease type 1C DOID:0110151 A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/12525712 CMT1C HMSN IC HMSN1C A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). ICD10CM:G60.0 MIM:118200 ORDO:101082 CMT1B Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy Charcot-Marie-Tooth neuropathy type 1B HMSN IB HMSN1B autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B hereditary motor and sensory neuropathy IB peroneal muscular atrophy disease_ontology DOID:0110152 Charcot-Marie-Tooth disease type 1B DOID:0110152 A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). url:https://www.ncbi.nlm.nih.gov/pubmed/7693129 CMT1B HMSN IB HMSN1B A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22). GARD:9190 ICD10CM:G60.0 MIM:118300 ORDO:90658 CMT1E Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease demyelinating type 1E Charcot-Marie-Tooth disease-deafness autosomal dominant Charcot-Marie-Tooth neuropathy and deafness disease_ontology DOID:0110153 Charcot-Marie-Tooth disease type 1E DOID:0110153 A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22). url:https://www.ncbi.nlm.nih.gov/pubmed/10330345 CMT1E A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. ICD10CM:G60.0 MIM:118210 ORDO:99946 CMT2A1 Charcot-Marie-Tooth disease neuronal type 2A1 Charcot-Marie-Tooth neuropathy type 2A1 HMSN IIA1 HMSN2A1 autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1 hereditary motor and sensory neuropathy IIA1 disease_ontology DOID:0110154 Charcot-Marie-Tooth disease type 2A1 DOID:0110154 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/11389829 CMT2A1 HMSN IIA1 HMSN2A1 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22. ICD10CM:G60.0 MIM:609260 ORDO:99947 CMT2A2A Charcot-Marie-Tooth neuronal type 2A2 Charcot-Marie-Tooth neuropathy type 2A2 HMSN IIA2 HMSN2A2 autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2 hereditary motor and sensory neuropathy IIA2 disease_ontology DOID:0110155 Charcot-Marie-Tooth disease type 2A2A DOID:0110155 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22. url:https://www.ncbi.nlm.nih.gov/pubmed/15064763 url:https://www.ncbi.nlm.nih.gov/pubmed/19889647 CMT2A2A HMSN IIA2 HMSN2A2 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. ICD10CM:G60.0 MESH:C537990 MIM:605588 ORDO:98856 CMT2B1 Charcot-Marie-Tooth disease neuronal type 2B1 Charcot-Marie-Tooth neuropathy type 2B1 autosomal recessive Charcot-Marie-Tooth disease type 2B1 autosomal recessive axonal CMT4C1 autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1 disease_ontology DOID:0110156 Charcot-Marie-Tooth disease type 2B1 DOID:0110156 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/11799477 CMT2B1 A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. ICD10CM:G60.0 MIM:607736 ORDO:99943 CMT2J Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities Charcot-Marie-Tooth neuropathy type 2J disease_ontology DOID:0110157 Charcot-Marie-Tooth disease type 2J DOID:0110157 A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. url:https://www.ncbi.nlm.nih.gov/pubmed/10071056 CMT2J A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. ICD10CM:G60.0 MESH:C535416 MIM:607677 ORDO:99942 CMT2I Charcot-Marie-Tooth neuropathy type 2I disease_ontology DOID:0110158 Charcot-Marie-Tooth disease type 2I DOID:0110158 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. url:https://www.ncbi.nlm.nih.gov/pubmed/10071056 CMT2I A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. GARD:9192 ICD10CM:G60.0 MESH:C537989 MIM:600882 ORDO:99936 CMT2B Charcot-Marie-Tooth neuropathy type 2B HMSN IIB HMSN2B autosomal dominant Charcot-Marie-Tooth disease type 2B hereditary motor and sensory nueropathy IIB disease_ontology DOID:0110159 Charcot-Marie-Tooth disease type 2B DOID:0110159 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. url:https://www.ncbi.nlm.nih.gov/pubmed/12545426 CMT2B HMSN IIB HMSN2B A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. ICD10CM:G60.0 MIM:617017 ORDO:443950 AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T disease_ontology DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T DOID:0110160 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. url:https://www.ncbi.nlm.nih.gov/pubmed/26991897 AR-CMT2T CMT2T A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. ICD10CM:G60.0 MIM:615490 ORDO:397968 CMT2R Charcot-Marie-Tooth neuropathy type 2R autosomal recessive axonal Charcot-Marie-Tooth disease type 2R disease_ontology DOID:0110161 Charcot-Marie-Tooth disease type 2R DOID:0110161 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. url:https://www.ncbi.nlm.nih.gov/pubmed/23562820 url:https://www.ncbi.nlm.nih.gov/pubmed/25893792 CMT2R A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31. MIM:616625 CMT2W Charcot-Marie-Tooth neuropathy type 2W autosomal dominant axonal Charcot-Marie-Tooth disease type 2W disease_ontology DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W DOID:0110162 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31. url:https://www.ncbi.nlm.nih.gov/pubmed/22930593 CMT2W A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1). ICD10CM:G60.0 MIM:606595 ORDO:99940 CMT2F Charcot-Marie-Tooth neuronal type 2F Charcot-Marie-Tooth neuropathy type 2F autosomal dominant Charcot-Marie-Tooth disease type 2F disease_ontology DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F DOID:0110163 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1). url:https://www.ncbi.nlm.nih.gov/pubmed/15122254 CMT2F A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene. ICD10CM:G60.0 MIM:601472 ORDO:99938 CMT2D Charcot-Marie-Tooth disease neuronal type 2D Charcot-Marie-Tooth neuropathy type 2D autosomal dominant Charcot-Marie-Tooth disease type 2D disease_ontology DOID:0110164 Charcot-Marie-Tooth disease type 2D DOID:0110164 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/12690580 CMT2D A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21. ICD10CM:G60.0 MIM:607684 ORDO:99939 CMT2E Charcot-Marie-Tooth neuropathy type 2E autosomal dominant Charcot-Marie-Tooth disease type 2E disease_ontology DOID:0110165 Charcot-Marie-Tooth disease type 2E DOID:0110165 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21. url:https://www.ncbi.nlm.nih.gov/pubmed/10841809 url:https://www.ncbi.nlm.nih.gov/pubmed/17620486 CMT2E A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23. ICD10CM:G60.0 MIM:607731 ORDO:101102 AR-CMT2C Autosomal recessive axonal CMT4C2 Axonal Charcot-Marie-Tooth disease with pyramidal involvement CMT2H Charcot-Marie-Tooth disease type 2H autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features disease_ontology DOID:0110166 Charcot-Marie-Tooth disease axonal type 2H DOID:0110166 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23. url:https://www.ncbi.nlm.nih.gov/pubmed/11166163 AR-CMT2C CMT2H A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. ICD10CM:G60.0 MIM:607831 ORDO:101097 ARCMT2K Charcot-Marie-Tooth neuropathy axonal type 2K autosomal recessive Charcot-Marie-Tooth disease with hoarseness autosomal recessive axonal CMT4C4 autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K autosomal recessive axonal Charcot-Marie-Tooth disease type 2K disease_ontology DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K DOID:0110167 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. url:https://www.ncbi.nlm.nih.gov/pubmed/12707075 ARCMT2K A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13. ICD10CM:G60.0 MIM:616687 ORDO:435387 CMT2 due to VCP mutation CMT2Y Charcot-Marie-Tooth neuropathy type 2Y autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation autosomal dominant axonal Charcot-Marie-Tooth type 2Y disease_ontology DOID:0110168 Charcot-Marie-Tooth disease type 2Y DOID:0110168 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13. url:https://www.ncbi.nlm.nih.gov/pubmed/25125609 CMT2Y A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. GARD:12435 ICD10CM:G60.0 MIM:614436 ORDO:300319 CMT2P Charcot-Marie-Tooth disease type 2P Charcot-Marie-Tooth neuropathy type 2P disease_ontology DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P DOID:0110169 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. url:https://www.ncbi.nlm.nih.gov/pubmed/20865121 CMT2P A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. ICD10CM:G60.0 MIM:615025 ORDO:329258 CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q disease_ontology DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q DOID:0110170 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. url:https://www.ncbi.nlm.nih.gov/pubmed/23141294 CMT2Q A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. MIM:616155 ORDO:443073 CMT2S Charcot-Marie-Tooth disease type 2S Charcot-Marie-Tooth neuropathy type 2S autosomal recessive axonal Charcot-Marie-Tooth type 2S disease_ontology DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S DOID:0110171 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/25439726 CMT2S disease_ontology DOID:0110172 obsolete Charcot-Marie-Tooth disease axonal type 2G true DOID:0110172 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13. ICD10CM:G60.0 MIM:616280 ORDO:397735 CMT2U Charcot-Marie-Tooth neuropathy type 2U autosomal dominant Charcot-Marie-Tooth disease type 2U autosomal dominant axonal Charcot-Marie-Tooth disease type 2U disease_ontology DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U DOID:0110173 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/23729695 CMT2U A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. ICD10CM:G60.0 MIM:608673 ORDO:99945 CMT2L Charcot-Marie-Tooth neuropathy axonal type 2L autosomal dominant Charcot-Marie-Tooth disease type 2L autosomal dominant axonal Charcot-Marie-Tooth disease type 2L disease_ontology DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L DOID:0110174 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/15565283 CMT2L A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. ICD10CM:G60.0 MIM:614228 ORDO:284232 Charcot-Marie-Tooth neuropathy axonal type 2O autosomal dominant Charcot-Marie-Tooth disease type 2O autosomal dominant axonal Charcot-Marie-Tooth disease type 2O disease_ontology DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O DOID:0110175 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/21820100 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21. MIM:616668 ORDO:466775 Charcot-Marie-Tooth neuropathy type 2X autosomal recessive axonal Charcot-Marie-Tooth disease type 2X disease_ontology DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X DOID:0110176 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21. url:https://www.ncbi.nlm.nih.gov/pubmed/26556829 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21. ICD10CM:G60.0 MIM:613287 ORDO:228174 CMT2N Charcot-Marie-Tooth neuropathy axonal type 2N autosomal dominant Charcot-Marie-Tooth disease type 2N autosomal dominant axonal Charcot-Marie-Tooth disease type 2N disease_ontology DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N DOID:0110177 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21. url:https://www.ncbi.nlm.nih.gov/pubmed/20045102 CMT2N A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21. MIM:616491 ORDO:447964 CMT2V Charcot-Marie-Tooth neuropathy type 2V autosomal dominant Charcot-Marie-Tooth disease type 2V autosomal dominant axonal Charcot-Marie-Tooth disease type 2V disease_ontology DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V DOID:0110178 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21. url:https://www.ncbi.nlm.nih.gov/pubmed/25818867 CMT2V A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. ICD10CM:G60.0 MESH:C537991 MIM:605589 ORDO:101101 AR-CMT2B2 ARCMT2B Autosomal recessive axonal CMT4C3 CMT2B2 Charcot-Marie-Tooth disease neuronal type 2B2 Charcot-Marie-Tooth neuropathy type 2B2 autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 disease_ontology DOID:0110179 Charcot-Marie-Tooth disease type 2B2 DOID:0110179 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/19290556 AR-CMT2B2 ARCMT2B CMT2B2 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12. MIM:616924 CMT2CC Charcot-Marie-Tooth neuropathy type 2CC disease_ontology DOID:0110180 Charcot-Marie-Tooth disease axonal type 2CC DOID:0110180 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12. url:https://www.ncbi.nlm.nih.gov/pubmed/27040688 CMT2CC A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12. MIM:616688 ORDO:466768 CMT2Z Charcot-Marie-Tooth neuropathy type 2Z autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z disease_ontology DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z DOID:0110181 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12. url:https://www.ncbi.nlm.nih.gov/pubmed/26497905 CMT2Z A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. ICD10CM:G60.0 MIM:606071 ORDO:99937 CMT2C Charcot-Marie-Tooth neuropathy type 2C HMSN2C autosomal cominant axonal Charcot-Marie-Tooth disease type 2C autosomal dominant Charcot-Marie-Tooth disease type 2C hereditary motor and sensory neuropathy type IIc disease_ontology DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C DOID:0110182 A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/20037588 CMT2C HMSN2C A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene. ICD10CM:G60.0 MIM:601596 ORDO:99949 CMT4C Charcot-Marie-Tooth neuropathy type 4C autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C disease_ontology DOID:0110183 Charcot-Marie-Tooth disease type 4C DOID:0110183 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/14574644 CMT4C A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21. ICD10CM:G60.0 MIM:611228 ORDO:139515 CMT4J autosomal recessive Charcot-Marie-Tooth disease type 4J disease_ontology DOID:0110184 Charcot-Marie-Tooth disease type 4J DOID:0110184 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21. url:https://www.ncbi.nlm.nih.gov/pubmed/17572665 CMT4J A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. ICD10CM:G60.0 MESH:C535419 MIM:214400 ORDO:99948 CMT4A Charcot-Marie-Tooth neuropathy type 4A autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A disease_ontology DOID:0110185 Charcot-Marie-Tooth disease type 4A DOID:0110185 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. url:https://www.ncbi.nlm.nih.gov/pubmed/11743579 CMT4A A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24. ICD10CM:G60.0 MIM:601455 ORDO:99950 CMT4D Charcot-Marie-Tooth neuropathy type 4D HMSN Lom type HMSN-Lom HMSN4D HMSNL autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D hereditary motor and sensory neuropathy LOM type disease_ontology DOID:0110186 Charcot-Marie-Tooth disease type 4D DOID:0110186 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24. url:https://www.ncbi.nlm.nih.gov/pubmed/10831399 CMT4D HMSN4D HMSNL A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34. ICD10CM:G60.0 MIM:616684 ORDO:391351 CMT4K SURF1-related CMT4 SURF1-related Charcot-Marie-Tooth disease type 4 SURF1-related severe demyelinating Charcot-Marie-Tooth disease autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K disease_ontology DOID:0110187 Charcot-Marie-Tooth disease type 4K DOID:0110187 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/24027061 CMT4K A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31. ICD10CM:H35.5 MESH:C567636 MIM:613341 LCA14 disease_ontology DOID:0110188 Leber congenital amaurosis 14 DOID:0110188 A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31. url:https://www.ncbi.nlm.nih.gov/pubmed/17011878 LCA14 A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3. ICD10CM:H35.5 MIM:613843 LCA15 disease_ontology DOID:0110189 Leber congenital amaurosis 15 DOID:0110189 A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15024725 LCA15 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene. GARD:9200 ICD10CM:G60.0 MESH:C535421 MIM:604563 ORDO:99956 CMT4B2 Charcot-Marie-Tooth neuropathy type 4B2 autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2 disease_ontology DOID:0110190 Charcot-Marie-Tooth disease type 4B2 DOID:0110190 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/12554688 CMT4B2 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). ICD10CM:G60.0 MESH:C535420 MIM:601382 ORDO:99955 CMT4B1 Charcot-Marie-Tooth neuropathy type 4B1 autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1 disease_ontology DOID:0110191 Charcot-Marie-Tooth disease type 4B1 DOID:0110191 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). url:https://www.ncbi.nlm.nih.gov/pubmed/10802647 CMT4B1 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4). ICD10CM:G60.0 MIM:609311 ORDO:99954 CMT4H Charcot-Marie-Tooth neuropathy type 4H autosomal recessive Charcot-Marie-Tooth disease type 4H autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H disease_ontology DOID:0110192 Charcot-Marie-Tooth disease type 4H DOID:0110192 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4). url:https://www.ncbi.nlm.nih.gov/pubmed/15744041 url:https://www.ncbi.nlm.nih.gov/pubmed/17564959 CMT4H A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13. ICD10CM:G60.0 MIM:614895 ORDO:99952 CMT4F disease_ontology DOID:0110193 Charcot-Marie-Tooth disease type 4F DOID:0110193 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/11157804 CMT4F A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. ICD10CM:G60.0 MIM:615284 ORDO:363981 CMT4B3 disease_ontology DOID:0110194 Charcot-Marie-Tooth disease type 4B3 DOID:0110194 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. url:https://www.ncbi.nlm.nih.gov/pubmed/23749797 CMT4B3 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. ICD10CM:G60.0 MIM:605253 ORDO:99951 CMT4E Charcot-Marie-Tooth neuropathy type 4E Neuropathy, congenital hypomyelinating, 1 autosomal recessive congenital hypomyelinating or amyelinating neuropathy disease_ontology DOID:0110195 Charcot-Marie-Tooth disease type 4E DOID:0110195 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. url:https://www.ncbi.nlm.nih.gov/pubmed/15184631 url:https://www.ncbi.nlm.nih.gov/pubmed/9537424 CMT4E A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22. ICD10CM:G60.0 MIM:605285 ORDO:99953 CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type disease_ontology DOID:0110196 Charcot-Marie-Tooth disease type 4G DOID:0110196 A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22. url:https://www.ncbi.nlm.nih.gov/pubmed/19536174 CMT4G HMSNR A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). ICD10CM:G60.0 MESH:C564703 MIM:606482 ORDO:100044 CMTDI1 CMTDIB Charcot-Marie-Tooth neuropathy dominant intermediate B DI-CMTB disease_ontology DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B DOID:0110197 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). url:https://www.ncbi.nlm.nih.gov/pubmed/15731758 CMTDI1 CMTDIB DI-CMTB A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. ICD10CM:G60.0 MIM:615376 ORDO:369867 CMTRIC RI-CMT type C RI-CMTC autosomal recessive intermediate Charcot-Marie-Tooth disease type C disease_ontology DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C DOID:0110198 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/23777631 CMTRIC RI-CMTC A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35. ICD10CM:G60.0 MESH:C564257 MIM:608323 ORDO:100045 CMTDIC Charcot-Marie-Tooth neuropathy dominant intermediate C DI-CMTC autosomal dominant intermediate Charcot-Marie-Tooth disease type C disease_ontology DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C DOID:0110199 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35. url:https://www.ncbi.nlm.nih.gov/pubmed/16429158 CMTDIC DI-CMTC A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. ICD10CM:G60.0 MESH:C564333 MIM:607791 ORDO:100046 CMTDID Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD autosomal dominant intermediate Charcot-Marie-Tooth disease type D disease_ontology DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D DOID:0110200 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. url:https://www.ncbi.nlm.nih.gov/pubmed/10406984 CMTDID DI-CMTD A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. MESH:C564256 MIM:608340 ORDO:217055 CMTRIA Charcot-Marie-Tooth neuropathy recessive intermediate A RI-CMTA autosomal recessive intermediate Charcot-Marie-Tooth disease type A disease_ontology DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A DOID:0110201 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. url:https://www.ncbi.nlm.nih.gov/pubmed/12499475 CMTRIA RI-CMTA A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1. ICD10CM:G60.0 MESH:C564702 MIM:606483 ORDO:100043 CMTDIA Charcot-Marie-Tooth neuropathy dominant intermediate A DI-CMTA autosomal dominant intermediate Charcot-Marie-Tooth disease type A disease_ontology DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A DOID:0110202 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11533914 CMTDIA DI-CMTA A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. ICD10CM:G60.0 MIM:616039 ORDO:435998 CMTRID RI-CMT type D autosomal recessive intermediate Charcot-Marie-Tooth disease type D disease_ontology DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D DOID:0110203 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/25152455 CMTRID A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23. ICD10CM:G60.0 MIM:613641 ORDO:254334 CMTRIB Charcot-Marie-Tooth neuropathy recessive intermediate B RI-CMTB autosomal recessive intermediate Charcot-Marie-Tooth disease type B disease_ontology DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B DOID:0110204 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23. url:https://www.ncbi.nlm.nih.gov/pubmed/20920668 CMTRIB RI-CMTB A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. ICD10CM:G60.0 MIM:614455 ORDO:93114 CMTDIE Charcot-Marie-Tooth disease-nephropathy syndrome Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis autosomal dominant intermediate Charcot-Marie-Tooth disease type E disease_ontology DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E DOID:0110205 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/22187985 CMTDIE A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28. ICD10CM:G60.0 MIM:615185 ORDO:352670 CMTDIF autosomal dominant intermediate Charcot-Marie-Tooth disease type F disease_ontology DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F DOID:0110206 A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28. url:https://www.ncbi.nlm.nih.gov/pubmed/23434117 CMTDIF A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22. ICD10CM:G60.0 MIM:300905 ORDO:352675 CMT6X CMTX6 Charcot-Marie-Tooth neuropathy X-linked dominant 6 X-linked Charcot-Marie-Tooth disease type 6 disease_ontology DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 DOID:0110207 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22. url:https://www.ncbi.nlm.nih.gov/pubmed/23297365 CMT6X CMTX6 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2. ICD10CM:G60.0 MESH:C535302 MIM:302801 ORDO:101076 CMTX2 Charcot-Marie-Tooth neuropathy X-linked recessive 2 X-linked Charcot-Marie-Tooth disease type 2 disease_ontology DOID:0110208 Charcot-Marie-Tooth disease X-linked recessive 2 DOID:0110208 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/1557086 CMTX2 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13. ICD10CM:G60.0 MIM:302800 ORDO:101075 CMT1X CMTX1 Charcot-Marie-Tooth neuropathy X-linked dominant 1 X-linked Charcot-Marie-Tooth disease type 1 disease_ontology DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 DOID:0110209 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13. url:https://www.ncbi.nlm.nih.gov/pubmed/8266101 CMT1X CMTX1 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. ICD10CM:G60.0 MIM:311070 ORDO:99014 CMT5X CMTX5 Charcot-Marie-Tooth neuropathy X-linked recessive 5 Rosenberg-Chutorian syndrome X-linked Charcot-Marie-Tooth disease type 5 optic atrophy, polyneuropathy, and deafness disease_ontology DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 DOID:0110210 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. url:https://www.ncbi.nlm.nih.gov/pubmed/15955956 CMT5X CMTX5 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26. ICD10CM:G60.0 MESH:C535303 MIM:302802 ORDO:101077 CMT3X CMTX3 Charcot-Marie-Tooth neuropathy X-linked recessive 3 X-linked Charcot-Marie-Tooth disease type 3 disease_ontology DOID:0110211 Charcot-Marie-Tooth disease X-linked recessive 3 DOID:0110211 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26. url:https://www.ncbi.nlm.nih.gov/pubmed/1557086 url:https://www.ncbi.nlm.nih.gov/pubmed/1674639 CMT3X CMTX3 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26. ICD10CM:G60.0 MIM:310490 ORDO:101078 CMT4X CMTX4 Charcot-Marie-Tooth disease with deafness and mental retardation Cowchock syndrome NADMR NAMSD X-linked Charcot-Marie-Tooth disease type 4 axonal motor sensory neuropathy with deafness and mental retardation disease_ontology DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 DOID:0110212 A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26. url:https://www.ncbi.nlm.nih.gov/pubmed/23217327 CMT4X CMTX4 NADMR NAMSD A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate. ICD10CM:Q35.1 ICD10CM:Q35.3 ICD10CM:Q35.5 ICD10CM:Q35.7 ICD10CM:Q35.9 MIM:119540 ORDO:2014 disease_ontology DOID:0110213 isolated cleft palate DOID:0110213 A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate. url:https://www.ncbi.nlm.nih.gov/pubmed/7143384 A cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate. ICD10CM:Q35.3 MESH:C562950 MIM:119570 ORDO:99772 cleft velum cleft velum palatinum soft cleft palate disease_ontology DOID:0110214 cleft soft palate DOID:0110214 A cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate. url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99772 A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. ICD10CM:H35.5 MIM:604537 LCA5 disease_ontology DOID:0110215 Leber congenital amaurosis 5 DOID:0110215 A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17546029 LCA5 A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32. ICD10CM:H35.5 MESH:C564140 MIM:613837 LCA11 disease_ontology DOID:0110216 Leber congenital amaurosis 11 DOID:0110216 A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32. url:https://www.ncbi.nlm.nih.gov/pubmed/16384941 LCA11 A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. ICD10CM:H35.5 MIM:615360 LCA17 disease_ontology DOID:0110217 Leber congenital amaurosis 17 DOID:0110217 A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. url:https://www.ncbi.nlm.nih.gov/pubmed/23307924 LCA17 A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22. ICD10CM:I49.8 MIM:601144 BRGDA1 disease_ontology DOID:0110218 Brugada syndrome 1 DOID:0110218 A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22. url:https://www.ncbi.nlm.nih.gov/pubmed/9521325 BRGDA1 A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22. ICD10CM:I49.8 MESH:C567087 MIM:611777 BRGDA2 disease_ontology DOID:0110219 Brugada syndrome 2 DOID:0110219 A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22. url:https://www.ncbi.nlm.nih.gov/pubmed/17967977 BRGDA2 A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13. GARD:10361 ICD10CM:I49.8 MESH:C567509 MIM:611875 BRGDA3 disease_ontology DOID:0110220 Brugada syndrome 3 DOID:0110220 A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/17224476 BRGDA3 A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12. GARD:10362 ICD10CM:I49.8 MESH:C567508 MIM:611876 BRGDA4 disease_ontology DOID:0110221 Brugada syndrome 4 DOID:0110221 A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12. url:https://www.ncbi.nlm.nih.gov/pubmed/17224476 BRGDA4 A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13. ICD10CM:I49.8 MESH:C567556 MIM:612838 BRGDA5 disease_ontology DOID:0110222 Brugada syndrome 5 DOID:0110222 A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/18464934 BRGDA5 A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13. ICD10CM:I49.8 MESH:C567735 MIM:613119 BRGDA6 disease_ontology DOID:0110223 Brugada syndrome 6 DOID:0110223 A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/19122847 BRGDA6 A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN3B gene on chromosome 11q24. ICD10CM:I49.8 MESH:C567734 MIM:613120 BRGDA7 disease_ontology DOID:0110224 Brugada syndrome 7 DOID:0110224 A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN3B gene on chromosome 11q24. url:https://www.ncbi.nlm.nih.gov/pubmed/20031595 BRGDA7 A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24. ICD10CM:I49.8 MESH:C567732 MIM:613123 BRGDA8 disease_ontology DOID:0110225 Brugada syndrome 8 DOID:0110225 A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24. url:https://www.ncbi.nlm.nih.gov/pubmed/19165230 BRGDA8 A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13. ICD10CM:I49.8 MIM:616399 BRGDA9 disease_ontology DOID:0110226 Brugada syndrome 9 DOID:0110226 A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13. url:https://www.ncbi.nlm.nih.gov/pubmed/21349352 BRGDA9 A cataract that has_material_basis_in mutation in the region 14q22-q23. ICD10CM:Q12.0 MIM:115650 CTRCT32 CTAA1 CTPP5 anterior polar cataract 1 posterior polar cataract 5 disease_ontology DOID:0110227 cataract 32 multiple types DOID:0110227 A cataract that has_material_basis_in mutation in the region 14q22-q23. url:https://www.ncbi.nlm.nih.gov/pubmed/6694185 CTRCT32 CTAA1 CTPP5 A cataract that has_material_basis_in variation in the region 1pter-p36.13. ICD10CM:Q12.0 MIM:115665 CCV CTRCT8 cataract, congenital, Volkmann type disease_ontology DOID:0110228 cataract 8 multiple types DOID:0110228 A cataract that has_material_basis_in variation in the region 1pter-p36.13. url:https://www.ncbi.nlm.nih.gov/pubmed/7607651 CCV CTRCT8 A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36. ICD10CM:Q12.0 MIM:116600 CTRCT6 ARCC2 CTPP1 age related cortical cataract 2 posterior polar cataract 1 disease_ontology DOID:0110229 cataract 6 multiple types DOID:0110229 A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/19005574 CTRCT6 ARCC2 CTPP1 A cataract that has_material_basis_in variation in the region 1p34.3-p32.2. ICD10CM:Q12.0 MIM:612968 CATC3 CTRCT34 autosomal recessive congenital cataract 3 cataract 34 multiple types with or without microcornea disease_ontology DOID:0110230 cataract 34 multiple types DOID:0110230 A cataract that has_material_basis_in variation in the region 1p34.3-p32.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17893665 CATC3 CTRCT34 A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. ICD10CM:Q12.0 MIM:116200 CTRCT1 Duffy linked cataract cataract 1, multiple types, with or without microcornea CAE1 CZP1 zonular pulverulent cataract 1 disease_ontology DOID:0110231 cataract 1 multiple types DOID:0110231 A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. url:https://www.ncbi.nlm.nih.gov/pubmed/9497259 CTRCT1 CAE1 CZP1 A cataract that has_material_basis_in variation in the region 2pter-p24. ICD10CM:Q12.0 MIM:115800 ORDO:98990 cataract 29 coralliform disease_ontology DOID:0110232 cataract 29 DOID:0110232 A cataract that has_material_basis_in variation in the region 2pter-p24. url:https://www.ncbi.nlm.nih.gov/pubmed/15933805 A cataract that has_material_basis_in mutation in the region 2p12. ICD10CM:Q12.0 MIM:607304 CTRCT27 cataract 27 nuclear progressive disease_ontology DOID:0110233 cataract 27 DOID:0110233 A cataract that has_material_basis_in mutation in the region 2p12. url:https://www.ncbi.nlm.nih.gov/pubmed/12091400 CTRCT27 A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33. ICD10CM:Q12.0 MIM:115700 CTRCT4 cataract 4 multiple types with or without microcornea CCA3 congenital cataract cerulean type 3 disease_ontology DOID:0110234 cataract 4 multiple types DOID:0110234 A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33. url:https://www.ncbi.nlm.nih.gov/pubmed/9927684 CTRCT4 CCA3 A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33. ICD10CM:Q12.0 MIM:604307 CTRCT2 cataract 2 multiple types with or without microcornea disease_ontology DOID:0110235 cataract 2 multiple types DOID:0110235 A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33. url:https://www.ncbi.nlm.nih.gov/pubmed/10521291 CTRCT2 A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34. ICD10CM:Q12.0 MIM:615188 CTRCT39 autosomal dominant cataract 39 multiple types disease_ontology DOID:0110236 cataract 39 multiple types DOID:0110236 A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34. url:https://www.ncbi.nlm.nih.gov/pubmed/23288985 CTRCT39 A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35. ICD10CM:Q12.0 MIM:115900 CTRCT42 disease_ontology DOID:0110237 cataract 42 DOID:0110237 A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35. url:https://pubmed.ncbi.nlm.nih.gov/23508780/ CTRCT42 A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3. ICD10CM:Q12.0 MIM:610019 CATC2 CTRCT18 autosomal recessive congenital cataract 2 cataract 18 autosomal recessive disease_ontology DOID:0110238 cataract 18 DOID:0110238 A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21636066 CATC2 CTRCT18 A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. ICD10CM:Q12.0 MIM:611597 CTRCT12 disease_ontology DOID:0110239 cataract 12 multiple types DOID:0110239 A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10729115 CTRCT12 A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27. ICD10CM:Q12.0 MIM:116100 CTRCT20 disease_ontology DOID:0110240 cataract 20 multiple types DOID:0110240 A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27. url:https://www.ncbi.nlm.nih.gov/pubmed/16141006 CTRCT20 A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16. ICD10CM:Q12.0 MIM:116400 CTRCT41 congenital nuclear type cataract 41 disease_ontology DOID:0110241 cataract 41 DOID:0110241 A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16. url:https://www.ncbi.nlm.nih.gov/pubmed/23531866 CTRCT41 A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. ICD10CM:Q12.0 MIM:116700 CTRCT13 disease_ontology DOID:0110242 cataract 13 with adult i phenotype DOID:0110242 A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. url:https://www.ncbi.nlm.nih.gov/pubmed/11739194 CTRCT13 A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21. ICD10CM:Q12.0 MIM:212500 CTRCT46 juvenilae cataract Hutterite type disease_ontology DOID:0110243 cataract 46 juvenile-onset DOID:0110243 A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/26788539 CTRCT46 A cataract that has_material_basis_in variation in the region 6p12-q12. MIM:609026 ARCC1 CTRCT28 age-related cortical cataract 1 disease_ontology DOID:0110244 cataract 28 DOID:0110244 A cataract that has_material_basis_in variation in the region 6p12-q12. url:https://www.ncbi.nlm.nih.gov/pubmed/15452352 ARCC1 CTRCT28 A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34. ICD10CM:Q12.0 MIM:614691 CATC5 CTRCT38 autosomal recessive congenital cataract 5 disease_ontology DOID:0110245 cataract 38 DOID:0110245 A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34. url:https://www.ncbi.nlm.nih.gov/pubmed/22415731 CATC5 CTRCT38 A cataract that has_material_basis_in variation in the region 9q13-q22. ICD10CM:Q12.0 MIM:605749 CTRCT26 disease_ontology DOID:0110246 cataract 26 multiple types DOID:0110246 A cataract that has_material_basis_in variation in the region 9q13-q22. url:https://www.ncbi.nlm.nih.gov/pubmed/11179024 CTRCT26 A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33. MIM:613887 CATC4 CTRCT36 autosomal recessive congenital cataract 4 disease_ontology DOID:0110247 cataract 36 DOID:0110247 A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33. url:https://www.ncbi.nlm.nih.gov/pubmed/21436445 CATC4 CTRCT36 A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13. ICD10CM:Q12.0 MIM:116300 ORDO:98984 CTRCT30 Dusty cataract cataract 30 pulverulent cataract Coppock-like disease_ontology DOID:0110248 cataract 30 DOID:0110248 A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13. url:https://www.ncbi.nlm.nih.gov/pubmed/19126778 CTRCT30 A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. ICD10CM:Q12.0 MIM:610623 CTRCT11 CPP4 CTPP4 posterior polar cataract 4 disease_ontology DOID:0110249 cataract 11 multiple types DOID:0110249 A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/9620774 CTRCT11 CPP4 CTPP4 A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q. ICD10CM:Q12.0 MIM:613763 CTRCT16 CTPP2 posterior polar cataract 2 disease_ontology DOID:0110250 cataract 16 multiple types DOID:0110250 A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q. url:https://www.ncbi.nlm.nih.gov/pubmed/11577372 CTRCT16 CTPP2 A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13. ICD10CM:Q12.0 MIM:615274 CTRCT15 disease_ontology DOID:0110251 cataract 15 multiple types DOID:0110251 A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/10802646 CTRCT15 A cataract that has_material_basis_in variation in the region 12q24.2-q24.3. ICD10CM:Q12.0 MIM:614422 CTRCT37 CCA5 congenital cataract cerulean type 5 disease_ontology DOID:0110252 cataract 37 DOID:0110252 A cataract that has_material_basis_in variation in the region 12q24.2-q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21731060 CTRCT37 CCA5 A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12. ICD10CM:Q12.0 MIM:601885 CTRCT14 CAE3 CZP3 zonular pulverulent cataract 3 disease_ontology DOID:0110253 cataract 14 multiple types DOID:0110253 A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12. url:https://www.ncbi.nlm.nih.gov/pubmed/9199569 CTRCT14 CAE3 CZP3 A cataract that has_material_basis_in variation in the region 15q21-q22. ICD10CM:Q12.0 MIM:605728 ORDO:98985 CCSSO CTRCT25 central pouch-like cataract with sutural opacities central saccular cataract with sutural opacities early-onset cataract with Y-shaped suture opacities disease_ontology DOID:0110254 cataract 25 DOID:0110254 A cataract that has_material_basis_in variation in the region 15q21-q22. url:https://www.ncbi.nlm.nih.gov/pubmed/11133359 CCSSO CTRCT25 A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22. ICD10CM:Q12.0 MIM:116800 CTRCT5 disease_ontology DOID:0110255 cataract 5 multiple types DOID:0110255 A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22. url:https://www.ncbi.nlm.nih.gov/pubmed/12089525 CTRCT5 A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23. ICD10CM:Q12.0 MIM:610202 CTRCT21 cataract 21 multiple types with or without microcornea CCA4 congenital cataract Cerulean type 4 disease_ontology DOID:0110256 cataract 21 multiple types DOID:0110256 A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23. url:https://www.ncbi.nlm.nih.gov/pubmed/11772997 CTRCT21 CCA4 A cataract that has_material_basis_in variation in the region 17p13. ICD10CM:Q12.0 MIM:601202 CTRCT24 CTAA2 anterior polar cataract 2 anterior polar cataract 24 disease_ontology DOID:0110257 cataract 24 DOID:0110257 A cataract that has_material_basis_in variation in the region 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/8852669 CTRCT24 CTAA2 A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11. ICD10CM:Q12.0 MIM:600881 CTRCT10 CCZS congenital zonular cataract with sutural opacities disease_ontology DOID:0110258 cataract 10 multiple types DOID:0110258 A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11. url:https://www.ncbi.nlm.nih.gov/pubmed/7573044 CTRCT10 CCZS A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12. ICD10CM:Q12.0 MIM:616279 CTRCT43 disease_ontology DOID:0110259 cataract 43 DOID:0110259 A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12. url:https://www.ncbi.nlm.nih.gov/pubmed/24549050 CTRCT43 A cataract that has_material_basis_in variation in the region 17q24. ICD10CM:Q12.0 MIM:115660 CTRCT7 CCA1 Cerulean type cataract 7 congenital Cerulean type cataract 1 disease_ontology DOID:0110260 cataract 7 DOID:0110260 A cataract that has_material_basis_in variation in the region 17q24. url:https://www.ncbi.nlm.nih.gov/pubmed/7704021 CTRCT7 CCA1 A cataract that has_material_basis_in variation in the region 19q13. ICD10CM:Q12.0 MIM:609376 CATCN1 CTRCT35 autosomal recessive congenital nuclear cataract 1 cataract 35, congenital nuclear disease_ontology DOID:0110261 cataract 35 DOID:0110261 A cataract that has_material_basis_in variation in the region 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/15671291 CATCN1 CTRCT35 A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13. ICD10CM:Q12.0 MIM:616851 CTRCT45 disease_ontology DOID:0110262 cataract 45 DOID:0110262 A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/25804400 CTRCT45 A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13. ICD10CM:Q12.0 MIM:615277 CTRCT19 disease_ontology DOID:0110263 cataract 19 multiple types DOID:0110263 A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/11917274 CTRCT19 A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12. ICD10CM:Q12.0 MIM:611391 CTRCT33 cortical cataract 33 disease_ontology DOID:0110264 cataract 33 DOID:0110264 A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12. url:https://www.ncbi.nlm.nih.gov/pubmed/17225135 CTRCT33 A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11. ICD10CM:Q12.0 MIM:605387 CTRCT31 CPP3 CTPP3 posterior polar cataract 3 disease_ontology DOID:0110265 cataract 31 multiple types DOID:0110265 A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11. url:https://www.ncbi.nlm.nih.gov/pubmed/17701905 CTRCT31 CPP3 CTPP3 A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22. ICD10CM:Q12.0 MIM:604219 CTRCT9 cataract 9 multiple types with or without microcornea CATC1 autosomal recessive congenital cataract 1 disease_ontology DOID:0110266 cataract 9 multiple types DOID:0110266 A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22. url:https://www.ncbi.nlm.nih.gov/pubmed/26867756 url:https://www.omim.org/entry/604219 CTRCT9 CATC1 A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22. ICD10CM:Q12.0 MIM:616509 ORDO:98994 CTRCT44 total early-onset cataract disease_ontology DOID:0110267 cataract 44 DOID:0110267 A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22. url:https://www.ncbi.nlm.nih.gov/pubmed/26200341 CTRCT44 A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11. ICD10CM:Q12.0 MIM:609741 CTRCT22 CATCN2 autosomal recessive congenital nuclear cataract 2 disease_ontology DOID:0110268 cataract 22 multiple types DOID:0110268 A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11. url:https://www.ncbi.nlm.nih.gov/pubmed/15914629 CTRCT22 CATCN2 A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11. ICD10CM:Q12.0 MIM:601547 CTRCT3 cataract 3 multiple types with or without microcornea CCA2 congenital Cerulean type cataract 2 disease_ontology DOID:0110269 cataract 3 multiple types DOID:0110269 A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11. url:https://www.ncbi.nlm.nih.gov/pubmed/9158139 CTRCT3 CCA2 A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. ICD10CM:Q12.0 MIM:611544 CTRCT17 CATCN3 autosomal recessive congenital nuclear cataract 3 disease_ontology DOID:0110270 cataract 17 multiple types DOID:0110270 A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. url:https://www.ncbi.nlm.nih.gov/pubmed/12360425 CTRCT17 CATCN3 A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12. ICD10CM:Q12.0 MIM:610425 CTRCT23 lamellar cataract 23 disease_ontology DOID:0110271 cataract 23 DOID:0110271 A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12. url:https://www.ncbi.nlm.nih.gov/pubmed/16960806 CTRCT23 A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22. ICD10CM:Q12.0 MIM:302200 CTRCT40 cataract 40 X-linked cataract 40 with or without microcornea disease_ontology DOID:0110272 cataract 40 DOID:0110272 A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22. url:https://www.ncbi.nlm.nih.gov/pubmed/15370543 CTRCT40 A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance. ICD10CM:G71.0 MIM:PS603511 ORDO:102014 disease_ontology DOID:0110273 autosomal dominant limb-girdle muscular dystrophy DOID:0110273 A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/3275904 A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance. ICD10CM:G71.0 MIM:PS253600 ORDO:102015 disease_ontology DOID:0110274 autosomal recessive limb-girdle muscular dystrophy DOID:0110274 A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/13810212 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. GARD:3845 ICD10CM:G71.0 MIM:253600 ORDO:267 LGMD2A Leyden-Moebius muscular dystrophy limb-girdle muscular dystrophy due to calpain deficiency muscular dystrophy, limb-girdle, type 2A pelvofemoral muscular dystrophy primary calpainopathy disease_ontology DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A DOID:0110275 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. url:https://www.ncbi.nlm.nih.gov/pubmed/7720071 LGMD2A An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. ICD10CM:G71.0 MIM:253601 ORDO:268 LGMD2B LGMD3 limb-girdle muscular dystrophy due to dysferlin deficiency limb-girdle muscular dystrophy type 3 disease_ontology DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B DOID:0110276 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. url:https://www.ncbi.nlm.nih.gov/pubmed/9731527 LGMD2B LGMD3 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. ICD10CM:G71.0 MIM:253700 ORDO:353 DMDA1 LGMD2C Maghrebian myopathy SCARMD autosomal recessive Duchenne-like muscular dystrophy type 1 deficiency of sarcoglycan gamma gamma-sarcoglycanopathy limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2C severe childhood autosomal recessive muscular dystrophy North African type disease_ontology DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C DOID:0110277 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. url:https://www.ncbi.nlm.nih.gov/pubmed/7481775 DMDA1 LGMD2C SCARMD An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q. ICD10CM:G71.0 MIM:608099 ORDO:62 Alpha-sarcoglycanopathy DMDA2 Duchenne-like autosomal recessive muscular dystrophy type 2 LGMD2D muscular dystrophy, limb-girdle, type 2D primary adhalinopathy disease_ontology DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D DOID:0110278 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q. url:https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy url:https://www.ncbi.nlm.nih.gov/pubmed/30055862 DMDA2 LGMD2D An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. ICD10CM:G71.0 MIM:604286 ORDO:119 Beta-sarcoglycanopathy LGMD2E Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency muscular dystrophy, limb-girdle, type 2E disease_ontology DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E DOID:0110279 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. url:https://www.ncbi.nlm.nih.gov/pubmed/7581448 LGMD2E An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD). ICD10CM:G71.0 MIM:601287 ORDO:219 LGMD2F delta-sarcoglycanopathy limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency disease_ontology DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F DOID:0110280 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD). url:https://www.ncbi.nlm.nih.gov/pubmed/8841194 LGMD2F An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP). ICD10CM:G71.0 MIM:601954 ORDO:34514 LGMD2G limb-girdle muscular dystrophy due to telethonin deficiency muscular dystrophy, limb-girdle, type 2G disease_ontology DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G DOID:0110281 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP). url:https://www.ncbi.nlm.nih.gov/pubmed/10655062 LGMD2G An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q. ICD10CM:G71.0 MIM:254110 ORDO:1878 LGMD2H limb-girdle muscular dystrophy due to TRIM32 deficiency muscular dystrophy Hutterite type sarcotubular myopathy disease_ontology DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H DOID:0110282 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q. url:https://www.ncbi.nlm.nih.gov/pubmed/11822024 LGMD2H An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN). ICD10CM:G71.0 MIM:608807 ORDO:140922 LGMD2J muscular dystrophy, limb-girdle, type 2J disease_ontology DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J DOID:0110283 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN). url:https://www.ncbi.nlm.nih.gov/pubmed/12145747 LGMD2J An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. ICD10CM:G71.0 MIM:611307 ORDO:206549 LGMD2L muscular dystrophy, limb-girdle, type 2L disease_ontology DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L DOID:0110284 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. url:https://www.ncbi.nlm.nih.gov/pubmed/20096397 LGMD2L An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. ICD10CM:G71.0 MIM:613723 ORDO:254361 LGMD2Q autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency muscular dystrophy, limb-girdle, type 2Q disease_ontology DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q DOID:0110285 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/21109228 LGMD2Q disease_ontology DOID:0110286 obsolete autosomal recessive limb-girdle muscular dystrophy type 2R true DOID:0110286 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35. ICD10CM:G71.0 MIM:615356 ORDO:369840 LGMD2S muscular dystrophy, limb-girdle, type 2S disease_ontology DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S DOID:0110287 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35. url:https://www.ncbi.nlm.nih.gov/pubmed/23830518 LGMD2S An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14. MIM:616827 ORDO:466801 LGMD2W muscular dystrophy, limb-girdle, type 2W disease_ontology DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W DOID:0110288 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14. url:https://www.ncbi.nlm.nih.gov/pubmed/25589244 LGMD2W An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. ICD10CM:G71.0 MIM:617072 ORDO:424261 LGMD2Y autosomal recessive muscular dystrophy due to LAP1B deficiency autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency muscular dystrophy with progressive weakness, distal contractures and rigid spine muscular dystrophy, limb-girdle, type 2Y disease_ontology DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y DOID:0110289 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. url:https://www.ncbi.nlm.nih.gov/pubmed/24856141 LGMD2Y An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21. MIM:616812 ORDO:476084 LGMD2X muscular dystrophy, limb-girdle, type 2X disease_ontology DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X DOID:0110290 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21. url:https://www.ncbi.nlm.nih.gov/pubmed/26642364 LGMD2X A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32. ICD10CM:H35.5 MESH:C565720 MIM:611755 LCA10 disease_ontology DOID:0110291 Leber congenital amaurosis 10 DOID:0110291 A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32. url:https://www.ncbi.nlm.nih.gov/pubmed/16909394 LCA10 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. ICD10CM:G71.0 MIM:613157 ORDO:206564 LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related disease_ontology DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O DOID:0110292 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. url:https://www.ncbi.nlm.nih.gov/pubmed/18195152 LGMD2O MDDGC3 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. ICD10CM:G71.0 MIM:613818 ORDO:280333 LGMD2P MDDGC9 muscular dystrophy-dystroglycanopathy (limb-girdle) type C9 muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related disease_ontology DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P DOID:0110293 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/21388311 LGMD2P MDDGC9 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. ICD10CM:G71.0 MIM:615352 ORDO:363623 LGMD2T MDDGC14 muscular dystrophy limb-girdle type 2T muscular dystrophy-dystroglycanopathy (limb-girdle) type C14 muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related disease_ontology DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T DOID:0110294 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/23768512 LGMD2T MDDGC14 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. ICD10CM:G71.0 MIM:616052 ORDO:352479 LGMD2U MDDGC7 autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency muscular dystrophy limb-girdle type 2U muscular dystrophy-dystroglycanopathy (limb-girdle) type C7 disease_ontology DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U DOID:0110295 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. url:https://www.ncbi.nlm.nih.gov/pubmed/23390185 LGMD2U MDDGC7 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31. ICD10CM:G71.0 MIM:611588 ORDO:206554 LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4 disease_ontology DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M DOID:0110296 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31. url:https://www.ncbi.nlm.nih.gov/pubmed/17044012 LGMD2M MDDGC4 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). ICD10CM:G71.0 MIM:609308 ORDO:86812 LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1 disease_ontology DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K DOID:0110297 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). url:https://www.ncbi.nlm.nih.gov/pubmed/15792865 LGMD2K MDDGC1 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. ICD10CM:G71.0 MIM:613158 ORDO:206559 LGMD2N muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related disease_ontology DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N DOID:0110298 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17878207 LGMD2N An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. ICD10CM:G71.0 MIM:607155 ORDO:34515 LGMD2I Limb-girdle muscular dystrophy due to FKRP deficiency MDDGC5 muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related disease_ontology DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I DOID:0110299 An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11592034 LGMD2I MDDGC5 disease_ontology DOID:0110300 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A true DOID:0110300 disease_ontology DOID:0110301 obsolete autosomal dominant limb-girdle muscular dystrophy type 1B true DOID:0110301 disease_ontology DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C true DOID:0110302 An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in variation in the region 3p25.1-p23. ICD10CM:G71.0 MIM:613530 ORDO:238755 LGMD1H muscular dystrophy limb-girdle type 1H disease_ontology DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H DOID:0110303 An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in variation in the region 3p25.1-p23. url:https://www.ncbi.nlm.nih.gov/pubmed/20068593 LGMD1H An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. ICD10CM:G71.0 MIM:608423 ORDO:55595 LGMD1F autosomal dominant limb-girdle muscular dystrophy type 1F muscular dystrophy limb-girdle type 1F disease_ontology DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 DOID:0110304 An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. url:https://www.ncbi.nlm.nih.gov/pubmed/23543484 url:https://www.ncbi.nlm.nih.gov/pubmed/23667635 LGMD1F An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. ICD10CM:G71.0 MIM:603511 ORDO:34517 LGMD1D autosomal dominant limb-girdle muscular dystrophy type 1E muscular dystrophy limb-girdle type 1D muscular dystrophy limb-girdle type 1E disease_ontology DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 DOID:0110305 An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. url:https://www.ncbi.nlm.nih.gov/pubmed/22334415 LGMD1D An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21. ICD10CM:G71.0 MIM:609115 ORDO:55596 LGMD1G autosomal dominant limb-girdle muscular dystrophy type 1G muscular dystrophy limb-girdle type 1G disease_ontology DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 DOID:0110306 An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21. url:https://www.ncbi.nlm.nih.gov/pubmed/24647604 LGMD1G A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12. DOID:0110325 MIM:192600 CMH1 cardiomyopathy, familial hypertrophic 1 hypertrophic cardiomyopathy 19 disease_ontology DOID:0110307 hypertrophic cardiomyopathy 1 DOID:0110307 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12. url:https://www.ncbi.nlm.nih.gov/pubmed/1975517 CMH1 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2). MIM:115195 CMH2 cardiomyopathy familial hypertrophic 2 disease_ontology DOID:0110308 hypertrophic cardiomyopathy 2 DOID:0110308 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2). url:https://www.ncbi.nlm.nih.gov/pubmed/8205619 CMH2 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22. MIM:115196 CMH3 cardiomyopathy familial hypertrophic 3 disease_ontology DOID:0110309 hypertrophic cardiomyopathy 3 DOID:0110309 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22. url:https://www.ncbi.nlm.nih.gov/pubmed/8205619 CMH3 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11. MIM:115197 CMH4 cardiomyopathy, familial hypertrophic, 4 disease_ontology DOID:0110310 hypertrophic cardiomyopathy 4 DOID:0110310 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11. url:https://www.ncbi.nlm.nih.gov/pubmed/7493025 url:https://www.ncbi.nlm.nih.gov/pubmed/7493026 CMH4 A familial hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation. MIM:614676 CMH21 cardiomyopathy familial hypertrophic 21 disease_ontology DOID:0110311 hypertrophic cardiomyopathy 21 DOID:0110311 A familial hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation. url:https://www.ncbi.nlm.nih.gov/pubmed/16651466 CMH21 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2). MIM:600858 CMH6 cardiomyopathy, familial hypertrophic 6 disease_ontology DOID:0110312 hypertrophic cardiomyopathy 6 DOID:0110312 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2). url:https://www.ncbi.nlm.nih.gov/pubmed/11586962 CMH6 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4. MIM:613690 CMH7 cardiomyopathy, familial hypertrophic 7 disease_ontology DOID:0110313 hypertrophic cardiomyopathy 7 DOID:0110313 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4. url:https://www.ncbi.nlm.nih.gov/pubmed/9241277 CMH7 A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene. MIM:608751 cardiomyopathy hypertrophic mid-left ventricular chamber type 1 cardiomyopathy, familial hypertrophic, 8 disease_ontology DOID:0110314 hypertrophic cardiomyopathy 8 DOID:0110314 A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/8673105 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. MIM:613765 CMH9 cardiomyopathy, familial hypertrophic, 9 disease_ontology DOID:0110315 hypertrophic cardiomyopathy 9 DOID:0110315 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/10462489 CMH9 A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene. MIM:608758 CMH10 cardiomyopathy, familial hypertrophic, 10 disease_ontology DOID:0110316 hypertrophic cardiomyopathy 10 DOID:0110316 A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/8673105 CMH10 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. MIM:612098 CMH11 cardiomyopathy familial hypertrophic 11 disease_ontology DOID:0110317 hypertrophic cardiomyopathy 11 DOID:0110317 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. url:https://www.ncbi.nlm.nih.gov/pubmed/10330430 CMH11 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15. MIM:612124 CMH12 cardiomyopathy familial hypertrophic 12 disease_ontology DOID:0110318 hypertrophic cardiomyopathy 12 DOID:0110318 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/12642359 CMH12 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21. MIM:613243 CMH13 cardiomyopathy familial hypertrophic 13 disease_ontology DOID:0110319 hypertrophic cardiomyopathy 13 DOID:0110319 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/11385718 CMH13 A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene. MIM:613251 CMH14 cardiomyopathy familial hypertrophic 14 disease_ontology DOID:0110320 hypertrophic cardiomyopathy 14 DOID:0110320 A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/11815426 CMH14 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22. MIM:613255 CMH15 cardiomyopathy familial hypertrophic 15 disease_ontology DOID:0110321 hypertrophic cardiomyopathy 15 DOID:0110321 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22. url:https://www.ncbi.nlm.nih.gov/pubmed/16712796 CMH15 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26. MIM:613838 CMH16 cardiomyopathy familial hypertrophic 16 disease_ontology DOID:0110322 hypertrophic cardiomyopathy 16 DOID:0110322 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26. url:https://www.ncbi.nlm.nih.gov/pubmed/17347475 CMH16 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12. MIM:613873 CMH17 cardiomyopathy familial hypertrophic 17 disease_ontology DOID:0110323 hypertrophic cardiomyopathy 17 DOID:0110323 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12. url:https://www.ncbi.nlm.nih.gov/pubmed/17509612 CMH17 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1. MIM:613874 CMH18 cardiomyopathy familial hypertrophic 18 disease_ontology DOID:0110324 hypertrophic cardiomyopathy 18 DOID:0110324 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/12705874 CMH18 disease_ontology DOID:0110325 obsolete hypertrophic cardiomyopathy 19 true DOID:0110325 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1. MIM:613876 CMH20 cardiomyopathy familial hypertrophic 20 disease_ontology DOID:0110326 hypertrophic cardiomyopathy 20 DOID:0110326 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1. url:https://www.ncbi.nlm.nih.gov/pubmed/20970104 CMH20 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. MIM:617047 CMH26 cardiomyopathy familial hypertrophic 26 disease_ontology DOID:0110327 hypertrophic cardiomyopathy 26 DOID:0110327 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. url:https://www.ncbi.nlm.nih.gov/pubmed/25351925 CMH26 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12. MIM:607487 CMH25 cardiomyopathy familial hypertrophic 25 disease_ontology DOID:0110328 hypertrophic cardiomyopathy 25 DOID:0110328 A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12. url:https://www.ncbi.nlm.nih.gov/pubmed/15582318 CMH25 A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11. ICD10CM:H35.5 MESH:C565327 MIM:613826 LCA6 disease_ontology DOID:0110329 Leber congenital amaurosis 6 DOID:0110329 A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11. url:https://www.ncbi.nlm.nih.gov/pubmed/11283794 LCA6 A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. ICD10CM:H35.5 MESH:C567197 MIM:612712 LCA13 disease_ontology DOID:0110330 Leber congenital amaurosis 13 DOID:0110330 A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15258582 LCA13 A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31. ICD10CM:H35.5 MESH:C565814 MIM:604232 LCA3 disease_ontology DOID:0110331 Leber congenital amaurosis 3 DOID:0110331 A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31. url:https://www.ncbi.nlm.nih.gov/pubmed/19268277 LCA3 A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13. ICD10CM:H35.5 MESH:C565778 MIM:604393 LCA4 disease_ontology DOID:0110332 Leber congenital amaurosis 4 DOID:0110332 A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/10615133 LCA4 A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13. ICD10CM:H35.5 MIM:613829 LCA7 disease_ontology DOID:0110333 Leber congenital amaurosis 7 DOID:0110333 A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/9537410 LCA7 An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. GARD:8694 MESH:D010013 MIM:166200 NCI:C99003 ORDO:216796 SNOMEDCT_US_2023_03_01:3508009 UMLS_CUI:C0023931 OI1 osteogenesis imperfecta type I disease_ontology DOID:0110334 osteogenesis imperfecta type 1 DOID:0110334 An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/2873381 OI1 An osteogenesis imperfecta found in a single South African family. ICD10CM:Q78.0 MIM:166230 disease_ontology DOID:0110335 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures DOID:0110335 An osteogenesis imperfecta found in a single South African family. url:https://www.ncbi.nlm.nih.gov/pubmed/7241530 An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2. GARD:10152 ICD10CM:Q78.0 MIM:610915 OI8 osteogenesis imperfecta type VIII disease_ontology DOID:0110336 osteogenesis imperfecta type 8 DOID:0110336 An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17277775 OI8 An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22. GARD:8701 ICD10CM:Q78.0 MESH:C565200 MIM:610682 OI7 osteogenesis imperfecta type VII disease_ontology DOID:0110337 osteogenesis imperfecta type 7 DOID:0110337 An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22. url:https://www.ncbi.nlm.nih.gov/pubmed/17055431 OI7 An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33. ICD10CM:Q78.0 MIM:616507 OI17 osteogenesis imperfecta type XVII disease_ontology DOID:0110338 osteogenesis imperfecta type 17 DOID:0110338 An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33. url:https://www.ncbi.nlm.nih.gov/pubmed/26027498 OI17 An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. GARD:8695 ICD10CM:Q78.0 MIM:259420 OI3 osteogenesis imperfecta type III progressively deforming osteogenesis imperfecta with normal sclera disease_ontology DOID:0110339 osteogenesis imperfecta type 3 DOID:0110339 An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/2794057 url:https://www.ncbi.nlm.nih.gov/pubmed/9099837 OI3 An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. GARD:8696 ICD10CM:Q78.0 MIM:166220 OI4 osteogenesis imperfecta type IV osteogenesis imperfecta with normal sclera disease_ontology DOID:0110340 osteogenesis imperfecta type 4 DOID:0110340 An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/2745420 url:https://www.ncbi.nlm.nih.gov/pubmed/2897363 OI4 An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. GARD:10142 ICD10CM:Q78.0 MIM:166210 OI2 Vrolik type of osteogenesis imperfecta osteogenesis imperfecta type II perinatal lethal osteogenesis imperfecta congenita disease_ontology DOID:0110341 osteogenesis imperfecta type 2 DOID:0110341 An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/3722184 url:https://www.ncbi.nlm.nih.gov/pubmed/6304100 OI2 An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21. ICD10CM:Q78.0 MIM:614856 OI13 osteogenesis imperfecta type XIII disease_ontology DOID:0110342 osteogenesis imperfecta type 13 DOID:0110342 An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21. url:https://www.ncbi.nlm.nih.gov/pubmed/22052668 OI13 An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31. ICD10CM:Q78.0 MIM:615066 OI14 osteogenesis imperfecta type XIV disease_ontology DOID:0110343 osteogenesis imperfecta type 14 DOID:0110343 An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31. url:https://www.ncbi.nlm.nih.gov/pubmed/23054245 OI14 An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15. GARD:8699 ICD10CM:Q78.0 MIM:610967 OI5 osteogenesis imperfecta type V disease_ontology DOID:0110344 osteogenesis imperfecta type 5 DOID:0110344 An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/22863190 OI5 An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11. ICD10CM:Q78.0 MIM:616229 OI16 chromosome 11p11.2 deletion syndrome 91.3-KB osteogenesis imperfecta type XVI disease_ontology DOID:0110345 osteogenesis imperfecta type 16 DOID:0110345 An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11. url:https://www.ncbi.nlm.nih.gov/pubmed/24079343 OI16 An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13. ICD10CM:Q78.0 MIM:613848 OI10 osteogenesis imperfecta type X disease_ontology DOID:0110346 osteogenesis imperfecta type 10 DOID:0110346 An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/20188343 OI10 An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13. ICD10CM:Q78.0 MIM:615220 OI15 osteogenesis imperfecta type XV disease_ontology DOID:0110347 osteogenesis imperfecta type 15 DOID:0110347 An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/23499309 OI15 An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13. ICD10CM:Q78.0 MIM:613849 OI12 osteogenesis imperfecta type XII disease_ontology DOID:0110348 osteogenesis imperfecta type 12 DOID:0110348 An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/20579626 OI12 An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22. GARD:10619 ICD10CM:Q78.0 MIM:259440 OI9 osteogenesis imperfecta type IX disease_ontology DOID:0110349 osteogenesis imperfecta type 9 DOID:0110349 An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22. url:https://www.ncbi.nlm.nih.gov/pubmed/19781681 OI9 An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3. GARD:8700 ICD10CM:Q78.0 MIM:613982 OI6 osteogenesis imperfecta type VI disease_ontology DOID:0110350 osteogenesis imperfecta type 6 DOID:0110350 An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21353196 OI6 An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21. ICD10CM:Q78.0 MIM:610968 OI11 osteogenesis imperfecta type XI disease_ontology DOID:0110351 osteogenesis imperfecta type 11 DOID:0110351 An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21. url:https://www.ncbi.nlm.nih.gov/pubmed/20362275 OI11 A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11. ICD10CM:H35.5 MIM:613861 RP59 disease_ontology DOID:0110352 retinitis pigmentosa 59 DOID:0110352 A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11. url:https://www.ncbi.nlm.nih.gov/pubmed/21295283 RP59 A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31. ICD10CM:H35.5 MESH:C566718 MIM:613794 RP20 disease_ontology DOID:0110353 retinitis pigmentosa 20 DOID:0110353 A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31. url:https://www.ncbi.nlm.nih.gov/pubmed/9326941 RP20 A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22. ICD10CM:H35.5 MESH:C566637 MIM:601718 RP19 disease_ontology DOID:0110354 retinitis pigmentosa 19 DOID:0110354 A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22. url:https://www.ncbi.nlm.nih.gov/pubmed/9425888 RP19 A retinitis pigmentosa that has_material_basis_inhomozygous mutation in the CLCC1 gene on chromosome 1p13. ICD10CM:H35.5 MESH:C563689 MIM:609913 RP32 disease_ontology DOID:0110355 retinitis pigmentosa 32 DOID:0110355 A retinitis pigmentosa that has_material_basis_inhomozygous mutation in the CLCC1 gene on chromosome 1p13. url:https://www.ncbi.nlm.nih.gov/pubmed/16189710 RP32 A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21. ICD10CM:H35.5 MESH:C563320 MIM:601414 RP18 disease_ontology DOID:0110356 retinitis pigmentosa 18 DOID:0110356 A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21. url:https://www.ncbi.nlm.nih.gov/pubmed/11773002 RP18 A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22. ICD10CM:H35.5 MESH:C565206 MIM:610282 RP35 disease_ontology DOID:0110357 retinitis pigmentosa 35 DOID:0110357 A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/16199541 RP35 A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3. ICD10CM:H35.5 MESH:C563999 MIM:600105 RP12 disease_ontology DOID:0110358 retinitis pigmentosa 12 DOID:0110358 A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10508521 RP12 A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32. ICD10CM:H35.5 MIM:615565 RP67 disease_ontology DOID:0110359 retinitis pigmentosa 67 DOID:0110359 A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32. url:https://www.ncbi.nlm.nih.gov/pubmed/24043777 RP67 A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41. ICD10CM:H35.5 MIM:613809 RP39 disease_ontology DOID:0110360 retinitis pigmentosa 39 DOID:0110360 A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41. url:https://www.ncbi.nlm.nih.gov/pubmed/12427073 RP39 A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23. ICD10CM:H35.5 MIM:617023 RP75 disease_ontology DOID:0110361 retinitis pigmentosa 75 DOID:0110361 A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23. url:https://www.ncbi.nlm.nih.gov/pubmed/26720455 RP75 A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23. ICD10CM:H35.5 MIM:613617 RP58 disease_ontology DOID:0110362 retinitis pigmentosa 58 DOID:0110362 A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23. url:https://www.ncbi.nlm.nih.gov/pubmed/20227676 RP58 A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23. ICD10CM:H35.5 MIM:616394 RP71 disease_ontology DOID:0110363 retinitis pigmentosa 71 DOID:0110363 A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23. url:https://www.ncbi.nlm.nih.gov/pubmed/25168386 RP71 A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23. ICD10CM:H35.5 MIM:613428 RP54 disease_ontology DOID:0110364 retinitis pigmentosa 54 DOID:0110364 A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23. url:https://www.ncbi.nlm.nih.gov/pubmed/20398886 RP54 A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15. ICD10CM:H35.5 MIM:606068 RP28 disease_ontology DOID:0110365 retinitis pigmentosa 28 DOID:0110365 A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15. url:https://www.ncbi.nlm.nih.gov/pubmed/20705278 RP28 A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11. ICD10CM:H35.5 MESH:C563676 MIM:610359 RP33 disease_ontology DOID:0110366 retinitis pigmentosa 33 DOID:0110366 A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11. url:https://www.ncbi.nlm.nih.gov/pubmed/19878916 RP33 A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13. ICD10CM:H35.5 MIM:613862 RP38 disease_ontology DOID:0110367 retinitis pigmentosa 38 DOID:0110367 A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13. url:https://www.ncbi.nlm.nih.gov/pubmed/11062461 RP38 A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31. ICD10CM:H35.5 MESH:C564249 MIM:608380 RP26 disease_ontology DOID:0110368 retinitis pigmentosa 26 DOID:0110368 A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/14681825 RP26 A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37. ICD10CM:H35.5 MIM:613758 RP47 disease_ontology DOID:0110369 retinitis pigmentosa 47 DOID:0110369 A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/9565049 RP47 A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2. ICD10CM:H35.5 MIM:613575 RP55 disease_ontology DOID:0110370 retinitis pigmentosa 55 DOID:0110370 A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/19956407 RP55 A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3. ICD10CM:H35.5 MIM:613581 RP56 disease_ontology DOID:0110371 retinitis pigmentosa 56 DOID:0110371 A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/20673862 RP56 A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22. ICD10CM:H35.5 MESH:C566706 MIM:613731 RP4 disease_ontology DOID:0110372 retinitis pigmentosa 4 DOID:0110372 A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22. url:https://www.ncbi.nlm.nih.gov/pubmed/2137202 RP4 A retinitis pigmentosa that has_material_basis_in mutation in the CLRN1 gene on chromosome 3q25. ICD10CM:H35.5 MIM:614180 RP61 disease_ontology DOID:0110373 retinitis pigmentosa 61 DOID:0110373 A retinitis pigmentosa that has_material_basis_in mutation in the CLRN1 gene on chromosome 3q25. url:https://www.ncbi.nlm.nih.gov/pubmed/21310491 RP61 A retinitis pigmentosa that has_material_basis_in mutation in the SLC7A14 gene on chromosome 3q26. ICD10CM:H35.5 MIM:615725 RP68 disease_ontology DOID:0110374 retinitis pigmentosa 68 DOID:0110374 A retinitis pigmentosa that has_material_basis_in mutation in the SLC7A14 gene on chromosome 3q26. url:https://www.ncbi.nlm.nih.gov/pubmed/24670872 RP68 A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16. ICD10CM:H35.5 MIM:613801 RP40 disease_ontology DOID:0110375 retinitis pigmentosa 40 DOID:0110375 A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16. url:https://www.ncbi.nlm.nih.gov/pubmed/8394174 RP40 A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15. ICD10CM:H35.5 MESH:C567422 MIM:612095 RP41 disease_ontology DOID:0110376 retinitis pigmentosa 41 DOID:0110376 A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15. url:https://www.ncbi.nlm.nih.gov/pubmed/10587575 RP41 A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12. ICD10CM:H35.5 MIM:613756 RP49 disease_ontology DOID:0110377 retinitis pigmentosa 49 DOID:0110377 A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12. url:https://www.ncbi.nlm.nih.gov/pubmed/7479749 RP49 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34. ICD10CM:H35.5 MESH:C567403 MIM:612165 RP29 disease_ontology DOID:0110378 retinitis pigmentosa 29 DOID:0110378 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34. url:https://www.ncbi.nlm.nih.gov/pubmed/11381043 RP29 A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33. ICD10CM:H35.5 MIM:613810 RP43 disease_ontology DOID:0110379 retinitis pigmentosa 43 DOID:0110379 A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33. url:https://www.ncbi.nlm.nih.gov/pubmed/7493036 RP43 A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2. ICD10CM:H35.5 MIM:614181 RP62 disease_ontology DOID:0110380 retinitis pigmentosa 62 DOID:0110380 A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2. url:https://www.ncbi.nlm.nih.gov/pubmed/21825139 RP62 A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21. ICD10CM:H35.5 MESH:C563992 MIM:600132 RP14 disease_ontology DOID:0110381 retinitis pigmentosa 14 DOID:0110381 A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/9462751 RP14 A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1. ICD10CM:H35.5 MIM:613827 RP48 disease_ontology DOID:0110382 retinitis pigmentosa 48 DOID:0110382 A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15452722 RP48 A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21. ICD10CM:H35.5 MESH:C564284 MIM:608133 RP7 disease_ontology DOID:0110383 retinitis pigmentosa 7 DOID:0110383 A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/1749427 RP7 A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12. ICD10CM:H35.5 MESH:C566425 MIM:602772 RP25 disease_ontology DOID:0110384 retinitis pigmentosa 25 DOID:0110384 A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12. url:https://www.ncbi.nlm.nih.gov/pubmed/18836446 RP25 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23. ICD10CM:H35.5 MIM:614494 RP63 disease_ontology DOID:0110385 retinitis pigmentosa 63 DOID:0110385 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23. url:https://www.ncbi.nlm.nih.gov/pubmed/22083234 RP63 A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3. ICD10CM:H35.5 MESH:C567854 MIM:612943 RP42 disease_ontology DOID:0110386 retinitis pigmentosa 42 DOID:0110386 A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19520207 RP42 A retinitis pigmentosa that has_material_basis_in mutation in the RP9 gene on chromosome 7p14. ICD10CM:H35.5 MESH:C566716 MIM:180104 RP9 disease_ontology DOID:0110387 retinitis pigmentosa 9 DOID:0110387 A retinitis pigmentosa that has_material_basis_in mutation in the RP9 gene on chromosome 7p14. url:https://www.ncbi.nlm.nih.gov/pubmed/12032732 RP9 A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32. ICD10CM:H35.5 MESH:C566715 MIM:180105 RP10 disease_ontology DOID:0110388 retinitis pigmentosa 10 DOID:0110388 A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32. url:https://www.ncbi.nlm.nih.gov/pubmed/11875050 RP10 A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11. ICD10CM:H35.5 MIM:616544 RP73 disease_ontology DOID:0110389 retinitis pigmentosa 73 DOID:0110389 A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11. url:https://www.ncbi.nlm.nih.gov/pubmed/25859010 RP73 A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12. ICD10CM:H35.5 MESH:C538365 MIM:180100 RP1 disease_ontology DOID:0110390 retinitis pigmentosa 1 DOID:0110390 A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12. url:https://www.ncbi.nlm.nih.gov/pubmed/10391211 RP1 A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21. ICD10CM:H35.5 MESH:C563685 MIM:609923 RP31 disease_ontology DOID:0110391 retinitis pigmentosa 31 DOID:0110391 A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21. url:https://www.ncbi.nlm.nih.gov/pubmed/17924349 RP31 A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32. ICD10CM:H35.5 MIM:615922 RP70 disease_ontology DOID:0110392 retinitis pigmentosa 70 DOID:0110392 A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32. url:https://www.ncbi.nlm.nih.gov/pubmed/24419317 RP70 A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11. ICD10CM:H35.5 MIM:615233 RP66 disease_ontology DOID:0110393 retinitis pigmentosa 66 DOID:0110393 A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11. url:https://www.ncbi.nlm.nih.gov/pubmed/19074801 RP66 A retinitis pigmentosa that has_material_basis_in mutation in the RGR gene on chromosome 10q23. ICD10CM:H35.5 MIM:613769 RP44 disease_ontology DOID:0110394 retinitis pigmentosa 44 DOID:0110394 A retinitis pigmentosa that has_material_basis_in mutation in the RGR gene on chromosome 10q23. url:https://www.ncbi.nlm.nih.gov/pubmed/10581022 RP44 A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11. ICD10CM:H35.5 MIM:616469 RP72 disease_ontology DOID:0110395 retinitis pigmentosa 72 DOID:0110395 A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11. url:https://www.ncbi.nlm.nih.gov/pubmed/25882705 RP72 A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13. ICD10CM:H35.5 MIM:613194 RP50 disease_ontology DOID:0110396 retinitis pigmentosa 50 DOID:0110396 A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/19853238 RP50 A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11. ICD10CM:H35.5 MESH:C563526 MIM:613750 RP27 disease_ontology DOID:0110397 retinitis pigmentosa 27 DOID:0110397 A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11. url:https://www.ncbi.nlm.nih.gov/pubmed/10192380 RP27 A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31. ICD10CM:H35.5 MIM:613464 RP51 disease_ontology DOID:0110398 retinitis pigmentosa 51 DOID:0110398 A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31. url:https://www.ncbi.nlm.nih.gov/pubmed/20451172 RP51 A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23. ICD10CM:H35.5 MESH:C567005 MIM:611131 RP37 disease_ontology DOID:0110399 retinitis pigmentosa 37 DOID:0110399 A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23. url:https://www.ncbi.nlm.nih.gov/pubmed/17564971 RP37 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1. ICD10CM:H35.5 MIM:602594 RP22 disease_ontology DOID:0110400 retinitis pigmentosa 22 DOID:0110400 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/9545639 RP22 A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13. ICD10CM:H35.5 MIM:616562 RP74 disease_ontology DOID:0110401 retinitis pigmentosa 74 DOID:0110401 A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13. url:https://www.ncbi.nlm.nih.gov/pubmed/25541840 RP74 A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13. ICD10CM:H35.5 MIM:613767 RP45 disease_ontology DOID:0110402 retinitis pigmentosa 45 DOID:0110402 A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13. url:https://www.ncbi.nlm.nih.gov/pubmed/11379879 RP45 A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3. ICD10CM:H35.5 MESH:C564008 MIM:600059 RP13 disease_ontology DOID:0110403 retinitis pigmentosa 13 DOID:0110403 A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11468273 RP13 A retinitis pigmentosa characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression that has_material_basis_in duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1. ICD10CM:H35.5 MESH:C563437 MIM:600852 RP17 disease_ontology DOID:0110404 retinitis pigmentosa 17 DOID:0110404 A retinitis pigmentosa characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression that has_material_basis_in duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1. url:https://pubmed.ncbi.nlm.nih.gov/33022222/ RP17 A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25. ICD10CM:H35.5 MESH:C566431 MIM:610599 RP36 disease_ontology DOID:0110405 retinitis pigmentosa 36 DOID:0110405 A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25. url:https://www.ncbi.nlm.nih.gov/pubmed/16938425 RP36 A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25. ICD10CM:H35.5 MESH:C564310 MIM:607921 RP30 disease_ontology DOID:0110406 retinitis pigmentosa 30 DOID:0110406 A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25. url:https://www.ncbi.nlm.nih.gov/pubmed/14609921 RP30 A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3. ICD10CM:H35.5 MIM:613582 RP57 disease_ontology DOID:0110407 retinitis pigmentosa 57 DOID:0110407 A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/20655036 RP57 A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13. ICD10CM:H35.5 MESH:C563991 MIM:600138 RP11 disease_ontology DOID:0110408 retinitis pigmentosa 11 DOID:0110408 A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/11545739 RP11 A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B gene on chromosome 20p13. ICD10CM:H35.5 MESH:C567249 MIM:612572 RP46 disease_ontology DOID:0110409 retinitis pigmentosa 46 DOID:0110409 A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B gene on chromosome 20p13. url:https://www.ncbi.nlm.nih.gov/pubmed/18806796 RP46 A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11. ICD10CM:H35.5 MIM:615780 RP69 disease_ontology DOID:0110410 retinitis pigmentosa 69 DOID:0110410 A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11. url:https://www.ncbi.nlm.nih.gov/pubmed/24680887 RP69 A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33. ICD10CM:H35.5 MIM:613983 RP60 disease_ontology DOID:0110411 retinitis pigmentosa 60 DOID:0110411 A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33. url:https://www.ncbi.nlm.nih.gov/pubmed/21549338 RP60 A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22. ICD10CM:H35.5 MIM:300424 RP23 disease_ontology DOID:0110412 retinitis pigmentosa 23 DOID:0110412 A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22. url:https://www.ncbi.nlm.nih.gov/pubmed/22619378 RP23 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2. ICD10CM:H35.5 MESH:C564065 MIM:312612 RP6 disease_ontology DOID:0110413 retinitis pigmentosa 6 DOID:0110413 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/2300556 RP6 A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11. ICD10CM:H35.5 MESH:C564520 MIM:300029 RP3 disease_ontology DOID:0110414 retinitis pigmentosa 3 DOID:0110414 A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/8673101 RP3 A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3. ICD10CM:H35.5 MESH:C567523 MIM:312600 RP2 disease_ontology DOID:0110415 retinitis pigmentosa 2 DOID:0110415 A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3. url:https://www.ncbi.nlm.nih.gov/pubmed/9697692 RP2 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27. ICD10CM:H35.5 MIM:300155 RP24 disease_ontology DOID:0110416 retinitis pigmentosa 24 DOID:0110416 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27. url:https://www.ncbi.nlm.nih.gov/pubmed/10690843 RP24 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28. ICD10CM:H35.5 MESH:C564475 MIM:300605 RP34 disease_ontology DOID:0110417 retinitis pigmentosa 34 DOID:0110417 A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/16740911 RP34 A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome. ICD10CM:H35.5 MIM:400004 disease_ontology DOID:0110418 retinitis pigmentosa Y-linked DOID:0110418 A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome. url:https://www.ncbi.nlm.nih.gov/pubmed/7493160 A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13. ICD10CM:H35.5 MIM:615434 disease_ontology DOID:0110419 retinitis pigmentosa with or without situs inversus DOID:0110419 A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13. url:https://www.ncbi.nlm.nih.gov/pubmed/23849777 A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life. ICD10CM:H35.5 MIM:180210 disease_ontology DOID:0110420 dominant pericentral pigmentary retinopathy DOID:0110420 A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life. url:https://www.ncbi.nlm.nih.gov/pubmed/3618160 A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life. ICD10CM:H35.5 MIM:268025 senile retinitis pigmentosa disease_ontology DOID:0110421 late-adult onset retinitis pigmentosa DOID:0110421 A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life. url:https://www.ncbi.nlm.nih.gov/pubmed/1424244 A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy. ICD10CM:H35.5 MIM:268060 disease_ontology DOID:0110422 autosomal recessive pericentral pigmentary retinopathy DOID:0110422 A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy. url:https://www.ncbi.nlm.nih.gov/pubmed/3189470 A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2. ICD10CM:I42.0 MIM:601493 CMDC1 dilated cardiomyopathy 1C with or without left ventricular noncompaction disease_ontology DOID:0110423 dilated cardiomyopathy 1C DOID:0110423 A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2. url:https://www.ncbi.nlm.nih.gov/pubmed/14662268 CMDC1 A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1. ICD10CM:I42.0 MIM:613122 CMD1CC disease_ontology DOID:0110424 dilated cardiomyopathy 1CC DOID:0110424 A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1. url:https://www.ncbi.nlm.nih.gov/pubmed/19881492 CMD1CC A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. MIM:115200 ORDO:300751 CDCD1 dilated cardiomyopathy with conduction defect 1 familial dilated cardiomyopathy with conduction defect due to LMNA mutation disease_ontology DOID:0110425 dilated cardiomyopathy 1A DOID:0110425 A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. url:https://www.ncbi.nlm.nih.gov/pubmed/10580070 CDCD1 A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32. ICD10CM:I42.0 MIM:601494 CMD1D disease_ontology DOID:0110426 dilated cardiomyopathy 1D DOID:0110426 A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32. url:https://www.ncbi.nlm.nih.gov/pubmed/11106718 CMD1D A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42. ICD10CM:I42.0 MIM:613697 CMD1V disease_ontology DOID:0110427 dilated cardiomyopathy 1V DOID:0110427 A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42. url:https://www.ncbi.nlm.nih.gov/pubmed/17186461 CMD1V A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43. ICD10CM:I42.0 MIM:612158 CMD1AA dilated cardiomyopathy 1AA with or without left ventricular noncompaction disease_ontology DOID:0110428 dilated cardiomyopathy 1AA DOID:0110428 A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43. url:https://www.ncbi.nlm.nih.gov/pubmed/14567970 CMD1AA A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22. ICD10CM:I42.0 MIM:604288 dilated cardiomyopathy with conduction defect disease_ontology DOID:0110429 dilated cardiomyopathy 1H DOID:0110429 A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10486326 A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31. ICD10CM:I42.0 MIM:604145 CMD1G disease_ontology DOID:0110430 dilated cardiomyopathy 1G DOID:0110430 A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/11788824 CMD1G A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35. ICD10CM:I42.0 MIM:604765 CMD1I disease_ontology DOID:0110431 dilated cardiomyopathy 1I DOID:0110431 A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35. url:https://www.ncbi.nlm.nih.gov/pubmed/10430757 CMD1I A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25. ICD10CM:I42.0 MIM:615916 CMD1NN disease_ontology DOID:0110432 dilated cardiomyopathy 1NN DOID:0110432 A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25. url:https://www.ncbi.nlm.nih.gov/pubmed/24777450 CMD1NN A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2. ICD10CM:I42.0 MIM:601154 CDCD2 CMD1E dilated cardiomyopathy with conduction defect 2 dilated cardiomyopathy with conduction disorder and arrhythmia disease_ontology DOID:0110433 dilated cardiomyopathy 1E DOID:0110433 A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15466643 CDCD2 CMD1E A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p. ICD10CM:I42.0 MIM:611879 CMD1Z disease_ontology DOID:0110434 dilated cardiomyopathy 1Z DOID:0110434 A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p. url:https://www.ncbi.nlm.nih.gov/pubmed/15542288 CMD1Z A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33. ICD10CM:I42.0 MIM:613642 CMD1GG disease_ontology DOID:0110435 dilated cardiomyopathy 1GG DOID:0110435 A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33. url:https://www.ncbi.nlm.nih.gov/pubmed/20551992 CMD1GG A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3. ICD10CM:I42.0 MIM:606685 CMD1L disease_ontology DOID:0110436 dilated cardiomyopathy 1L DOID:0110436 A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10974018 CMD1L A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16. ICD10CM:I42.0 MIM:605582 CMD1K disease_ontology DOID:0110437 dilated cardiomyopathy 1K DOID:0110437 A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16. url:https://www.ncbi.nlm.nih.gov/pubmed/11085912 CMD1K A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21. ICD10CM:I42.0 MIM:615235 CMD1JJ disease_ontology DOID:0110438 dilated cardiomyopathy 1JJ DOID:0110438 A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21. url:https://www.ncbi.nlm.nih.gov/pubmed/17646580 CMD1JJ A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22. ICD10CM:I42.0 MIM:609909 CMD1P disease_ontology DOID:0110439 dilated cardiomyopathy 1P DOID:0110439 A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22. url:https://www.ncbi.nlm.nih.gov/pubmed/12610310 CMD1P A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2. MIM:605362 ORDO:217622 CMD1J autosomal dominant dilated cardiomyopathy with sensorineural hearing loss neurosensory deafness with dilated cardiomyopathy neurosensory hearing loss with dilated cardiomyopathy sensorineural deafness with dilated cardiomyopathy sensorineural hearing loss with dilated cardiomyopathy disease_ontology DOID:0110440 dilated cardiomyopathy 1J DOID:0110440 A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15735644 CMD1J A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21. ICD10CM:I42.0 MIM:614672 CMD2B disease_ontology DOID:0110441 dilated cardiomyopathy 2B DOID:0110441 A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21. url:https://www.ncbi.nlm.nih.gov/pubmed/21965549 CMD2B A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1. ICD10CM:I42.0 MIM:609915 CMD1Q disease_ontology DOID:0110442 dilated cardiomyopathy 1Q DOID:0110442 A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16228230 CMD1Q A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13. ICD10CM:I42.0 MIM:600884 disease_ontology DOID:0110443 dilated cardiomyopathy 1B DOID:0110443 A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13. url:https://www.ncbi.nlm.nih.gov/pubmed/7573045 A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31. ICD10CM:I42.0 MIM:611615 CMD1X dilated cardiomyopathy with mild or no proximal muscle weakness disease_ontology DOID:0110444 dilated cardiomyopathy 1X DOID:0110444 A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31. url:https://www.ncbi.nlm.nih.gov/pubmed/17036286 CMD1X A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21. ICD10CM:I42.0 MIM:615248 CMD1KK disease_ontology DOID:0110445 dilated cardiomyopathy 1KK DOID:0110445 A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21. url:https://www.ncbi.nlm.nih.gov/pubmed/18006477 CMD1KK A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2. ICD10CM:I42.0 MIM:611407 CMD1W disease_ontology DOID:0110446 dilated cardiomyopathy 1W DOID:0110446 A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/11815424 CMD1W A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25. ICD10CM:I42.0 MIM:613172 CMD1DD disease_ontology DOID:0110447 dilated cardiomyopathy 1DD DOID:0110447 A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25. url:https://www.ncbi.nlm.nih.gov/pubmed/19712804 CMD1DD A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11. ICD10CM:I42.0 MIM:613881 CMD1HH disease_ontology DOID:0110448 dilated cardiomyopathy 1HH DOID:0110448 A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11. url:https://www.ncbi.nlm.nih.gov/pubmed/21353195 CMD1HH A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15. ICD10CM:I42.0 MIM:607482 CMD1M disease_ontology DOID:0110449 dilated cardiomyopathy 1M DOID:0110449 A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/12507422 url:https://www.ncbi.nlm.nih.gov/pubmed/14567970 CMD1M A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23. ICD10CM:I42.0 MIM:615184 CMD1II disease_ontology DOID:0110450 dilated cardiomyopathy 1II DOID:0110450 A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/16483541 CMD1II A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1. ICD10CM:I42.0 MIM:608569 CMD1O dilated cardiomyopathy with ventricular tachycardia disease_ontology DOID:0110451 dilated cardiomyopathy 1O DOID:0110451 A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15034580 CMD1O A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22. ICD10CM:I42.0 CMD1T disease_ontology DOID:0110452 dilated cardiomyopathy 1T DOID:0110452 A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22. url:https://www.ncbi.nlm.nih.gov/pubmed/16247757 CMD1T A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2. ICD10CM:I42.0 MIM:613252 CMD1EE disease_ontology DOID:0110453 dilated cardiomyopathy 1EE DOID:0110453 A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15998695 CMD1EE A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12. ICD10CM:I42.0 MIM:613426 CMD1S disease_ontology DOID:0110454 dilated cardiomyopathy 1S DOID:0110454 A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12. url:https://www.ncbi.nlm.nih.gov/pubmed/11106718 CMD1S A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3. ICD10CM:I42.0 MIM:613694 CMD1U disease_ontology DOID:0110455 dilated cardiomyopathy 1U DOID:0110455 A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17186461 CMD1U A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14. ICD10CM:I42.0 MIM:613424 CMD1R disease_ontology DOID:0110456 dilated cardiomyopathy 1R DOID:0110456 A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14. url:https://www.ncbi.nlm.nih.gov/pubmed/17611253 CMD1R A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1. ICD10CM:I42.0 MIM:611878 CMD1Y disease_ontology DOID:0110457 dilated cardiomyopathy 1Y DOID:0110457 A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11273725 CMD1Y A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1. ICD10CM:I42.0 MIM:612877 CMD1BB disease_ontology DOID:0110458 dilated cardiomyopathy 1BB DOID:0110458 A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/18678517 CMD1BB A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42. ICD10CM:I42.0 MIM:613286 CMD1FF disease_ontology DOID:0110459 dilated cardiomyopathy 1FF DOID:0110459 A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42. url:https://www.ncbi.nlm.nih.gov/pubmed/19590045 CMD1FF A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13. ICD10CM:I42.0 MIM:611880 CMD2A disease_ontology DOID:0110460 dilated cardiomyopathy 2A DOID:0110460 A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/15070570 CMD2A A dilated cardiomyopathy that has_material_basis_in mutation in the DMD gene encoding dystrophin on chromosome Xp21, without skeletal muscle weakness or wasting. DOID:0060561 DOID:0081164 ICD10CM:I42.0 MESH:C580047 MIM:302045 CMD3B DMD-related dilated cardiomyopathy XLCM dilated cardiomyopathy 3B disease_ontology DOID:0110461 X-linked dilated cardiomyopathy DOID:0110461 A dilated cardiomyopathy that has_material_basis_in mutation in the DMD gene encoding dystrophin on chromosome Xp21, without skeletal muscle weakness or wasting. url:https://ghr.nlm.nih.gov/condition/x-linked-dilated-cardiomyopathy#synonyms url:https://pubmed.ncbi.nlm.nih.gov/29901616/ url:https://pubmed.ncbi.nlm.nih.gov/3574369/ url:https://pubmed.ncbi.nlm.nih.gov/8361506/ CMD3B XLCM An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32. ICD10CM:H90.3 MIM:615837 DFNB101 autosomal recessive deafness 101 disease_ontology DOID:0110462 autosomal recessive nonsyndromic deafness 101 DOID:0110462 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32. url:https://www.ncbi.nlm.nih.gov/pubmed/24619944 DFNB101 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12. ICD10CM:H90.3 MIM:615974 DFNB102 autosomal recessive deafness 102 disease_ontology DOID:0110463 autosomal recessive nonsyndromic deafness 102 DOID:0110463 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12. url:https://www.ncbi.nlm.nih.gov/pubmed/24741995 DFNB102 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21. ICD10CM:H90.3 MIM:616042 DFNB103 autosomal recessive deafness 103 disease_ontology DOID:0110464 autosomal recessive nonsyndromic deafness 103 DOID:0110464 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/24781754 DFNB103 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22. ICD10CM:H90.3 MIM:616515 DFNB104 autosomal recessive deafness 104 disease_ontology DOID:0110465 autosomal recessive nonsyndromic deafness 104 DOID:0110465 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22. url:https://www.ncbi.nlm.nih.gov/pubmed/24958875 DFNB104 disease_ontology DOID:0110466 obsolete autosomal recessive nonsyndromic deafness 105 true DOID:0110466 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22. ICD10CM:H90.3 MIM:601386 DFNB12 autosomal recessive deafness 12 disease_ontology DOID:0110467 autosomal recessive nonsyndromic deafness 12 DOID:0110467 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22. url:https://www.ncbi.nlm.nih.gov/pubmed/11090341 DFNB12 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36. ICD10CM:H90.3 MIM:603098 DFNB13 autosomal recessive deafness 13 disease_ontology DOID:0110468 autosomal recessive nonsyndromic deafness 13 DOID:0110468 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36. url:https://www.ncbi.nlm.nih.gov/pubmed/9781028 DFNB13 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31. ICD10CM:H90.3 MIM:603678 DFNB14 autosomal recessive deafness 14 disease_ontology DOID:0110469 autosomal recessive nonsyndromic deafness 14 DOID:0110469 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31. url:https://www.ncbi.nlm.nih.gov/pubmed/9887371 DFNB14 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13. ICD10CM:H90.3 MIM:601869 DFNB15 DFNB72 DFNB95 autosomal recessive deafness 15 autosomal recessive deafness 72 autosomal recessive deafness 95 disease_ontology DOID:0110470 autosomal recessive nonsyndromic deafness 15 DOID:0110470 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/21326233 DFNB15 DFNB72 DFNB95 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the STRC gene on chromosome 15q15. ICD10CM:H90.3 MIM:603720 DFNB16 autosomal recessive deafness 16 disease_ontology DOID:0110471 autosomal recessive nonsyndromic deafness 16 DOID:0110471 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the STRC gene on chromosome 15q15. url:https://www.ncbi.nlm.nih.gov/pubmed/11687802 DFNB16 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31. ICD10CM:H90.3 MIM:603010 DFNB17 autosomal recessive deafness 17 disease_ontology DOID:0110472 autosomal recessive nonsyndromic deafness 17 DOID:0110472 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31. url:https://www.ncbi.nlm.nih.gov/pubmed/15293785 DFNB17 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15. ICD10CM:H90.3 MIM:602092 DFNB18A autosomal recessive deafness 18A disease_ontology DOID:0110473 autosomal recessive nonsyndromic deafness 18A DOID:0110473 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/12136232 DFNB18A An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15. ICD10CM:H90.3 MIM:614945 DFNB18B autosomal recessive deafness 18B disease_ontology DOID:0110474 autosomal recessive nonsyndromic deafness 18B DOID:0110474 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/23122587 DFNB18B An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. ICD10CM:H90.3 MIM:220290 DFNB1A autosomal recessive deafness 1A disease_ontology DOID:0110475 autosomal recessive nonsyndromic deafness 1A DOID:0110475 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. url:https://www.ncbi.nlm.nih.gov/pubmed/9139825 DFNB1A An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. ICD10CM:H90.3 MIM:612645 DFNB1B autosomal recessive deafness 1B disease_ontology DOID:0110476 autosomal recessive nonsyndromic deafness 1B DOID:0110476 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. url:https://www.ncbi.nlm.nih.gov/pubmed/11807148 DFNB1B An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. ICD10CM:H90.3 MIM:600060 DFNB2 autosomal recessive deafness 2 disease_ontology DOID:0110477 autosomal recessive nonsyndromic deafness 2 DOID:0110477 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/9171833 DFNB2 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter. ICD10CM:H90.3 MIM:604060 DFNB20 autosomal recessive deafness 20 disease_ontology DOID:0110478 autosomal recessive nonsyndromic deafness 20 DOID:0110478 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter. url:https://www.ncbi.nlm.nih.gov/pubmed/10196710 DFNB20 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3. ICD10CM:H90.3 MIM:603629 DFNB21 autosomal recessive deafness 21 disease_ontology DOID:0110479 autosomal recessive nonsyndromic deafness 21 DOID:0110479 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/9949200 DFNB21 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12. ICD10CM:H90.3 MIM:607039 DFNB22 autosomal recessive deafness 22 disease_ontology DOID:0110480 autosomal recessive nonsyndromic deafness 22 DOID:0110480 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12. url:https://www.ncbi.nlm.nih.gov/pubmed/11972037 DFNB22 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21. ICD10CM:H90.3 MIM:609533 DFNB23 autosomal recessive deafness 23 disease_ontology DOID:0110481 autosomal recessive nonsyndromic deafness 23 DOID:0110481 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21. url:https://www.ncbi.nlm.nih.gov/pubmed/14570705 DFNB23 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22. ICD10CM:H90.3 MIM:611022 DFNB24 autosomal recessive deafness 24 disease_ontology DOID:0110482 autosomal recessive nonsyndromic deafness 24 DOID:0110482 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22. url:https://www.ncbi.nlm.nih.gov/pubmed/17226784 DFNB24 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13. ICD10CM:H90.3 MIM:613285 DFNB25 autosomal recessive deafness 25 disease_ontology DOID:0110483 autosomal recessive nonsyndromic deafness 25 DOID:0110483 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13. url:https://www.ncbi.nlm.nih.gov/pubmed/20137778 DFNB25 An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the GAB1 gene on chromosome 4q31. ICD10CM:H90.3 MIM:605428 DFNB26 autosomal recessive deafness 26 disease_ontology DOID:0110484 autosomal recessive nonsyndromic deafness 26 DOID:0110484 An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the GAB1 gene on chromosome 4q31. url:https://www.ncbi.nlm.nih.gov/pubmed/11101839 DFNB26 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31. ICD10CM:H90.3 MIM:605818 DFNB27 autosomal recessive deafness 27 disease_ontology DOID:0110485 autosomal recessive nonsyndromic deafness 27 DOID:0110485 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31. url:https://www.ncbi.nlm.nih.gov/pubmed/11175289 DFNB27 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13. ICD10CM:H90.3 MIM:609823 DFNB28 autosomal recessive deafness 28 disease_ontology DOID:0110486 autosomal recessive nonsyndromic deafness 28 DOID:0110486 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13. url:https://www.ncbi.nlm.nih.gov/pubmed/16385458 DFNB28 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22. ICD10CM:H90.3 MIM:614035 DFNB29 autosomal recessive deafness 29 disease_ontology DOID:0110487 autosomal recessive nonsyndromic deafness 29 DOID:0110487 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22. url:https://www.ncbi.nlm.nih.gov/pubmed/11163249 DFNB29 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11. ICD10CM:H90.3 MIM:600316 DFNB3 NRSD3 autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3 disease_ontology DOID:0110488 autosomal recessive nonsyndromic deafness 3 DOID:0110488 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11. url:https://www.ncbi.nlm.nih.gov/pubmed/17851452 DFNB3 NRSD3 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1. ICD10CM:H90.3 MIM:607101 ORDO:90636 DFNB30 autosomal recessive deafness 30 disease_ontology DOID:0110489 autosomal recessive nonsyndromic deafness 30 DOID:0110489 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/12032315 DFNB30 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32. ICD10CM:H90.3 MIM:607084 DFNB31 autosomal recessive deafness 31 disease_ontology DOID:0110490 autosomal recessive nonsyndromic deafness 31 DOID:0110490 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32. url:https://www.ncbi.nlm.nih.gov/pubmed/12833159 DFNB31 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affected men that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21.2. DOID:0110466 ICD10CM:H90.3 MIM:608653 DFNB32 HIIMS autosomal recessive deafness 105 autosomal recessive deafness 32 hearing impairment infertile male syndrome disease_ontology DOID:0110491 autosomal recessive nonsyndromic deafness 32 DOID:0110491 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affected men that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21.2. url:https://pubmed.ncbi.nlm.nih.gov/27259055/ url:https://www.ncbi.nlm.nih.gov/pubmed/12634867 DFNB32 HIIMS An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1. ICD10CM:H90.3 MIM:607239 DFNB33 autosomal recessive deafness 33 disease_ontology DOID:0110492 autosomal recessive nonsyndromic deafness 33 DOID:0110492 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/12080392 DFNB33 An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24. ICD10CM:H90.3 MIM:608565 DFNB35 autosomal recessive deafness 35 disease_ontology DOID:0110493 autosomal recessive nonsyndromic deafness 35 DOID:0110493 An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24. url:https://www.ncbi.nlm.nih.gov/pubmed/18179891 DFNB35 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36. ICD10CM:H90.3 MIM:609006 DFNB36 autosomal recessive deafness 36 disease_ontology DOID:0110494 autosomal recessive nonsyndromic deafness 36 DOID:0110494 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/15286153 DFNB36 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. ICD10CM:H90.3 MIM:607821 DFNB37 autosomal recessive deafness 37 disease_ontology DOID:0110495 autosomal recessive nonsyndromic deafness 37 DOID:0110495 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. url:https://www.ncbi.nlm.nih.gov/pubmed/12687499 DFNB37 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27. ICD10CM:H90.3 MIM:608219 DFNB38 autosomal recessive deafness 38 disease_ontology DOID:0110496 autosomal recessive nonsyndromic deafness 38 DOID:0110496 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27. url:https://www.ncbi.nlm.nih.gov/pubmed/12890929 DFNB38 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21. ICD10CM:H90.3 MIM:608265 DFNB39 autosomal recessive deafness 39 disease_ontology DOID:0110497 autosomal recessive nonsyndromic deafness 39 DOID:0110497 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21. url:https://www.ncbi.nlm.nih.gov/pubmed/19576567 DFNB39 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22. ICD10CM:H90.3 MIM:600791 DFNB4 autosomal recessive deafness 4 with enlarged vestibular aqueduct disease_ontology DOID:0110498 autosomal recessive nonsyndromic deafness 4 DOID:0110498 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22. url:https://www.ncbi.nlm.nih.gov/pubmed/9500541 DFNB4 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1. ICD10CM:H90.3 MIM:608264 DFNB40 autosomal recessive deafness 40 disease_ontology DOID:0110499 autosomal recessive nonsyndromic deafness 40 DOID:0110499 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/14512974 DFNB40 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13. ICD10CM:H90.3 MIM:609646 DFNB42 autosomal recessive deafness 42 disease_ontology DOID:0110500 autosomal recessive nonsyndromic deafness 42 DOID:0110500 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13. url:https://www.ncbi.nlm.nih.gov/pubmed/21255762 DFNB42 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12. ICD10CM:H90.3 MIM:610154 DFNB44 autosomal recessive deafness 44 disease_ontology DOID:0110501 autosomal recessive nonsyndromic deafness 44 DOID:0110501 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12. url:https://www.ncbi.nlm.nih.gov/pubmed/24482543 DFNB44 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44. ICD10CM:H90.3 MIM:612433 DFNB45 autosomal recessive deafness 45 disease_ontology DOID:0110502 autosomal recessive nonsyndromic deafness 45 DOID:0110502 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44. url:https://www.ncbi.nlm.nih.gov/pubmed/18325041 DFNB45 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31. ICD10CM:H90.3 MIM:609647 DFNB46 autosomal recessive deafness 46 disease_ontology DOID:0110503 autosomal recessive nonsyndromic deafness 46 DOID:0110503 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31. url:https://www.ncbi.nlm.nih.gov/pubmed/15637723 DFNB46 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3. ICD10CM:H90.3 MIM:609946 DFNB47 autosomal recessive deafness 47 disease_ontology DOID:0110504 autosomal recessive nonsyndromic deafness 47 DOID:0110504 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/16261342 DFNB47 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25. ICD10CM:H90.3 MIM:609439 DFNB48 autosomal recessive deafness 48 disease_ontology DOID:0110505 autosomal recessive nonsyndromic deafness 48 DOID:0110505 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25. url:https://www.ncbi.nlm.nih.gov/pubmed/23023331 DFNB48 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13. ICD10CM:H90.3 MIM:610153 DFNB49 autosomal recessive deafness 49 disease_ontology DOID:0110506 autosomal recessive nonsyndromic deafness 49 DOID:0110506 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13. url:https://www.ncbi.nlm.nih.gov/pubmed/18084694 DFNB49 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12. ICD10CM:H90.3 MIM:600792 DFNB5 autosomal recessive deafness 5 disease_ontology DOID:0110507 autosomal recessive nonsyndromic deafness 5 DOID:0110507 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12. url:https://www.ncbi.nlm.nih.gov/pubmed/8944017 DFNB5 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12. ICD10CM:H90.3 MIM:609941 DFNB51 autosomal recessive deafness 51 disease_ontology DOID:0110508 autosomal recessive nonsyndromic deafness 51 DOID:0110508 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12. url:https://www.ncbi.nlm.nih.gov/pubmed/16158433 DFNB51 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. ICD10CM:H90.3 MIM:609706 DFNB53 autosomal recessive deafness 53 disease_ontology DOID:0110509 autosomal recessive nonsyndromic deafness 53 DOID:0110509 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/16033917 DFNB53 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2. GARD:9919 ICD10CM:H90.3 MIM:609952 DFNB55 autosomal recessive deafness 55 disease_ontology DOID:0110510 autosomal recessive nonsyndromic deafness 55 DOID:0110510 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/16098016 DFNB55 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the DFNB59 gene on chromosome 2q31. ICD10CM:H90.3 MIM:610220 DFNB59 autosomal recessive deafness 59 disease_ontology DOID:0110511 autosomal recessive nonsyndromic deafness 59 DOID:0110511 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the DFNB59 gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/17301963 DFNB59 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21. ICD10CM:H90.3 MIM:600971 DFNB6 autosomal recessive deafness 6 disease_ontology DOID:0110512 autosomal recessive nonsyndromic deafness 6 DOID:0110512 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/12145746 DFNB6 An autosomal recessive nonsyndromic deafness that is characterized by early childhood-onset moderate to severe sensorineural hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22. ICD10CM:H90.3 MIM:613865 DFNB61 autosomal recessive deafness 61 disease_ontology DOID:0110513 autosomal recessive nonsyndromic deafness 61 DOID:0110513 An autosomal recessive nonsyndromic deafness that is characterized by early childhood-onset moderate to severe sensorineural hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22. url:https://pubmed.ncbi.nlm.nih.gov/24164807/ url:https://www.ncbi.nlm.nih.gov/pubmed/12719379 DFNB61 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23. ICD10CM:H90.3 MIM:610143 DFNB62 autosomal recessive deafness 62 disease_ontology DOID:0110514 autosomal recessive nonsyndromic deafness 62 DOID:0110514 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/16650082 DFNB62 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13. ICD10CM:H90.3 MIM:611451 DFNB63 autosomal recessive deafness 63 disease_ontology DOID:0110515 autosomal recessive nonsyndromic deafness 63 DOID:0110515 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/18953341 DFNB63 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3. ICD10CM:H90.3 MIM:610248 DFNB65 autosomal recessive deafness 65 disease_ontology DOID:0110516 autosomal recessive nonsyndromic deafness 65 DOID:0110516 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/16596430 DFNB65 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22. ICD10CM:H90.3 MIM:610212 DFNB66 autosomal recessive deafness 66 disease_ontology DOID:0110517 autosomal recessive nonsyndromic deafness 66 DOID:0110517 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22. url:https://www.ncbi.nlm.nih.gov/pubmed/25601850 DFNB66 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21. ICD10CM:H90.3 MIM:610265 DFNB67 autosomal recessive deafness 67 disease_ontology DOID:0110518 autosomal recessive nonsyndromic deafness 67 DOID:0110518 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/16459341 DFNB67 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13. ICD10CM:H90.3 MIM:610419 DFNB68 autosomal recessive deafness 68 disease_ontology DOID:0110519 autosomal recessive nonsyndromic deafness 68 DOID:0110519 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/26805784 DFNB68 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. ICD10CM:H90.3 MIM:600974 DFNB11 DFNB7 autosomal recessive deafness 7 disease_ontology DOID:0110520 autosomal recessive nonsyndromic deafness 7 DOID:0110520 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. url:https://www.ncbi.nlm.nih.gov/pubmed/11850618 DFNB11 DFNB7 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16. ICD10CM:H90.3 MIM:614934 DFNB70 autosomal recessive deafness 70 disease_ontology DOID:0110521 autosomal recessive nonsyndromic deafness 70 DOID:0110521 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16. url:https://www.ncbi.nlm.nih.gov/pubmed/23084290 DFNB70 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3. ICD10CM:H90.3 MIM:612789 DFNB71 autosomal recessive deafness 71 disease_ontology DOID:0110522 autosomal recessive nonsyndromic deafness 71 DOID:0110522 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19229252 DFNB71 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14. ICD10CM:H90.3 MIM:613718 DFNB74 autosomal recessive deafness 74 disease_ontology DOID:0110523 autosomal recessive nonsyndromic deafness 74 DOID:0110523 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14. url:https://www.ncbi.nlm.nih.gov/pubmed/21185009 DFNB74 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13. ICD10CM:H90.3 MIM:615540 DFNB76 autosomal recessive deafness 76 disease_ontology DOID:0110524 autosomal recessive nonsyndromic deafness 76 DOID:0110524 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/23348741 DFNB76 An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21. ICD10CM:H90.3 MIM:613079 DFNB77 autosomal recessive deafness 77 disease_ontology DOID:0110525 autosomal recessive nonsyndromic deafness 77 DOID:0110525 An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21. url:https://www.ncbi.nlm.nih.gov/pubmed/19732867 DFNB77 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34. ICD10CM:H90.3 MIM:613307 DFNB79 autosomal recessive deafness 79 disease_ontology DOID:0110526 autosomal recessive nonsyndromic deafness 79 DOID:0110526 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/20170899 DFNB79 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22. ICD10CM:H90.3 MIM:601072 DFNB10 DFNB8 NRSD8 autosomal recessive deafness 10 autosomal recessive deafness 8 childhood-onset neurosensory autosomal recessive deafness 8 neurosensory nonsyndromic recessive deafness 8 disease_ontology DOID:0110527 autosomal recessive nonsyndromic deafness 8 DOID:0110527 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22. url:https://www.ncbi.nlm.nih.gov/pubmed/11137999 DFNB10 DFNB8 NRSD8 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2. ICD10CM:H90.3 MIM:613685 DFNB83 autosomal recessive deafness 83 disease_ontology DOID:0110528 autosomal recessive nonsyndromic deafness 83 DOID:0110528 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2. url:https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss url:https://www.omim.org/entry/613685 DFNB83 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21. ICD10CM:H90.3 MIM:613391 DFNB84A autosomal recessive deafness 84A autosomal recessive deafness 84A with vestibular dysfunction disease_ontology DOID:0110529 autosomal recessive nonsyndromic deafness 84A DOID:0110529 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21. url:https://www.ncbi.nlm.nih.gov/pubmed/20346435 DFNB84A An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21. ICD10CM:H90.3 MIM:614944 DFNB84B autosomal recessive deafness 84B disease_ontology DOID:0110530 autosomal recessive nonsyndromic deafness 84B DOID:0110530 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21. url:https://www.ncbi.nlm.nih.gov/pubmed/23122586 DFNB84B An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2. ICD10CM:H90.3 MIM:613392 DFNB85 autosomal recessive deafness 85 disease_ontology DOID:0110531 autosomal recessive nonsyndromic deafness 85 DOID:0110531 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/19888295 DFNB85 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. ICD10CM:H90.3 MIM:614617 DFNB86 autosomal recessive deafness 86 disease_ontology DOID:0110532 autosomal recessive nonsyndromic deafness 86 DOID:0110532 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/24387994 DFNB86 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11. ICD10CM:H90.3 MIM:615429 DFNB88 autosomal recessive deafness 88 disease_ontology DOID:0110533 autosomal recessive nonsyndromic deafness 88 DOID:0110533 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11. url:https://www.ncbi.nlm.nih.gov/pubmed/24039609 DFNB88 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23. ICD10CM:H90.3 MIM:613916 DFNB89 autosomal recessive deafness 89 disease_ontology DOID:0110534 autosomal recessive nonsyndromic deafness 89 DOID:0110534 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23. url:https://www.ncbi.nlm.nih.gov/pubmed/23768514 DFNB89 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23. ICD10CM:H90.3 MIM:601071 DFNB9 NRSD9 autosomal recessive deafness 9 neurosensory nonsyndromic recessive deafness 9 disease_ontology DOID:0110535 autosomal recessive nonsyndromic deafness 9 DOID:0110535 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23. url:https://www.ncbi.nlm.nih.gov/pubmed/10192385 DFNB9 NRSD9 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25. ICD10CM:H90.3 MIM:613453 DFNB91 autosomal recessive deafness 91 disease_ontology DOID:0110536 autosomal recessive nonsyndromic deafness 91 DOID:0110536 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25. url:https://www.ncbi.nlm.nih.gov/pubmed/20451170 DFNB91 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13. ICD10CM:H90.3 MIM:614899 DFNB93 autosomal recessive deafness 93 disease_ontology DOID:0110537 autosomal recessive nonsyndromic deafness 93 DOID:0110537 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/22981119 DFNB93 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13. ICD10CM:H90.3 MIM:614414 DFNB96 autosomal recessive deafness 96 disease_ontology DOID:0110538 autosomal recessive nonsyndromic deafness 96 DOID:0110538 An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13. url:https://www.ncbi.nlm.nih.gov/pubmed/21937999 DFNB96 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31. ICD10CM:H90.3 MIM:616705 DFNB97 autosomal recessive deafness 97 disease_ontology DOID:0110539 autosomal recessive nonsyndromic deafness 97 DOID:0110539 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31. url:https://www.ncbi.nlm.nih.gov/pubmed/25941349 DFNB97 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22. ICD10CM:H90.3 MIM:614861 DFNB98 autosomal recessive deafness 98 disease_ontology DOID:0110540 autosomal recessive nonsyndromic deafness 98 DOID:0110540 An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22. url:https://www.ncbi.nlm.nih.gov/pubmed/22678063 DFNB98 An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. ICD10CM:H90.3 MIM:124900 DFNA1 Konigsmark syndrome LFHL1 autosomal dominant deafness 1 autosomal dominant deafness 1, with or without thrombocytopenia hereditary low frequency hearing loss 1 disease_ontology DOID:0110541 autosomal dominant nonsyndromic deafness 1 DOID:0110541 An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. url:https://www.ncbi.nlm.nih.gov/pubmed/9360932 DFNA1 LFHL1 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23. ICD10CM:H90.3 MIM:601316 DFNA10 autosomal dominant deafness 10 disease_ontology DOID:0110542 autosomal dominant nonsyndromic deafness 10 DOID:0110542 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23. url:https://www.ncbi.nlm.nih.gov/pubmed/11159937 DFNA10 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. ICD10CM:H90.3 MIM:601317 DFNA11 autosomal dominant deafness 11 disease_ontology DOID:0110543 autosomal dominant nonsyndromic deafness 11 DOID:0110543 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/9354784 DFNA11 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23. ICD10CM:H90.3 MIM:601543 DFNA12 DFNA8 autosomal dominant deafness 12 autosomal dominant deafness 8 disease_ontology DOID:0110544 autosomal dominant nonsyndromic deafness 12 DOID:0110544 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/9590290 DFNA12 DFNA8 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. ICD10CM:H90.3 MIM:601868 DFNA13 autosomal dominant deafness 13 disease_ontology DOID:0110545 autosomal dominant nonsyndromic deafness 13 DOID:0110545 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/10581026 DFNA13 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32. DOID:0110578 ICD10CM:H90.3 MIM:602459 DFNA15 DFNA52 autosomal dominant deafness 15 autosomal dominant deafness 52 autosomal dominant nonsyndromic deafness 52 disease_ontology DOID:0110546 autosomal dominant nonsyndromic deafness 15 DOID:0110546 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32. url:https://pubmed.ncbi.nlm.nih.gov/27535032/ url:https://www.ncbi.nlm.nih.gov/pubmed/9506947 DFNA15 DFNA52 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3. ICD10CM:H90.3 MIM:603964 DFNA16 autosomal dominant deafness 16 disease_ontology DOID:0110547 autosomal dominant nonsyndromic deafness 16 DOID:0110547 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10364526 DFNA16 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12. ICD10CM:H90.3 MIM:603622 DFNA17 autosomal dominant deafness 17 disease_ontology DOID:0110548 autosomal dominant nonsyndromic deafness 17 DOID:0110548 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12. url:https://www.ncbi.nlm.nih.gov/pubmed/11023810 DFNA17 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22. ICD10CM:H90.3 MIM:606012 DFNA18 autosomal dominant deafness 18 disease_ontology DOID:0110549 autosomal dominant nonsyndromic deafness 18 DOID:0110549 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22. url:https://www.ncbi.nlm.nih.gov/pubmed/11313754 DFNA18 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25. ICD10CM:H90.3 MIM:604717 DFNA20 DFNA26 autosomal dominant deafness 20 disease_ontology DOID:0110550 autosomal dominant nonsyndromic deafness 20 DOID:0110550 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25. url:https://www.ncbi.nlm.nih.gov/pubmed/13680526 DFNA20 DFNA26 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3. ICD10CM:H90.3 MIM:607017 DFNA21 autosomal dominant deafness 21 disease_ontology DOID:0110551 autosomal dominant nonsyndromic deafness 21 DOID:0110551 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10764236 DFNA21 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. ICD10CM:H90.3 MIM:606346 DFNA22 autosomal dominant deafness 22 disease_ontology DOID:0110552 autosomal dominant nonsyndromic deafness 22 DOID:0110552 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. url:https://www.ncbi.nlm.nih.gov/pubmed/11468689 DFNA22 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23. ICD10CM:H90.3 MIM:605192 DFNA23 autosomal dominant deafness 23 disease_ontology DOID:0110553 autosomal dominant nonsyndromic deafness 23 DOID:0110553 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23. url:https://www.ncbi.nlm.nih.gov/pubmed/15141091 DFNA23 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter. GARD:9166 ICD10CM:H90.3 MIM:606282 DFNA24 autosomal dominant deafness 24 disease_ontology DOID:0110554 autosomal dominant nonsyndromic deafness 24 DOID:0110554 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter. url:https://www.ncbi.nlm.nih.gov/pubmed/10739769 DFNA24 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23. ICD10CM:H90.3 MIM:605583 DFNA25 autosomal dominant deafness 25 disease_ontology DOID:0110555 autosomal dominant nonsyndromic deafness 25 DOID:0110555 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23. url:https://www.ncbi.nlm.nih.gov/pubmed/18674745 DFNA25 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1. ICD10CM:H90.3 MIM:612431 DFNA27 autosomal dominant deafness 27 disease_ontology DOID:0110556 autosomal dominant nonsyndromic deafness 27 DOID:0110556 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/18279434 DFNA27 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22. ICD10CM:H90.3 MIM:608641 DFNA28 autosomal dominant deafness 28 disease_ontology DOID:0110557 autosomal dominant nonsyndromic deafness 28 DOID:0110557 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22. url:https://www.ncbi.nlm.nih.gov/pubmed/12393799 DFNA28 An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2. ICD10CM:H90.3 MIM:600101 DFNA2A autosomal dominant deafness 2A disease_ontology DOID:0110558 autosomal dominant nonsyndromic deafness 2A DOID:0110558 An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10025409 DFNA2A An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3. ICD10CM:H90.3 MIM:612644 DFNA2B autosomal dominant deafness 2B disease_ontology DOID:0110559 autosomal dominant nonsyndromic deafness 2B DOID:0110559 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3. url:https://www.ncbi.nlm.nih.gov/pubmed/9843210 DFNA2B An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26. ICD10CM:H90.3 MIM:606451 DFNA30 autosomal dominant deafness 30 disease_ontology DOID:0110560 autosomal dominant nonsyndromic deafness 30 DOID:0110560 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26. url:https://www.ncbi.nlm.nih.gov/pubmed/11571554 DFNA30 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3. ICD10CM:H90.3 MIM:608645 DFNA31 autosomal dominant deafness 31 disease_ontology DOID:0110561 autosomal dominant nonsyndromic deafness 31 DOID:0110561 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11559344 DFNA31 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34. ICD10CM:H90.3 MIM:614211 DFNA33 autosomal dominant deafness 33 disease_ontology DOID:0110562 Variation in ATP11A, which resides in the chromosome region linked to this disease, 13q34, has been shown to cause autosomal dominant nonsyndromic deafness but evidence does not support it as the cause of this subtype. Reassessment of the haplotype for this disease has suggested that the locus may be inaccurate [JAB]. autosomal dominant nonsyndromic deafness 33 DOID:0110562 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34. url:https://pubmed.ncbi.nlm.nih.gov/19183916/ url:https://pubmed.ncbi.nlm.nih.gov/37671045/ DFNA33 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. ICD10CM:H90.3 MIM:606705 DFNA36 autosomal dominant deafness 36 disease_ontology DOID:0110563 autosomal dominant nonsyndromic deafness 36 DOID:0110563 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. url:https://www.ncbi.nlm.nih.gov/pubmed/11850618 DFNA36 An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. ICD10CM:H90.3 MIM:601544 DFNA3A autosomal dominant deafness 3A disease_ontology DOID:0110564 autosomal dominant nonsyndromic deafness 3A DOID:0110564 An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. url:https://www.ncbi.nlm.nih.gov/pubmed/9139825 DFNA3A An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. ICD10CM:H90.3 MIM:612643 DFNA3B autosomal dominant deafness 3B disease_ontology DOID:0110565 autosomal dominant nonsyndromic deafness 3B DOID:0110565 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. url:https://www.ncbi.nlm.nih.gov/pubmed/10471490 DFNA3B An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12. ICD10CM:H90.3 MIM:616357 DFNA40 autosomal dominant deafness 40 disease_ontology DOID:0110566 autosomal dominant nonsyndromic deafness 40 DOID:0110566 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12. url:https://www.ncbi.nlm.nih.gov/pubmed/12471561 DFNA40 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24. ICD10CM:H90.3 MIM:608224 DFNA41 autosomal dominant deafness 41 disease_ontology DOID:0110567 autosomal dominant nonsyndromic deafness 41 DOID:0110567 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/24211385 url:https://www.omim.org/entry/608224 DFNA41 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12. ICD10CM:H90.3 MIM:608394 DFNA43 autosomal dominant deafness 43 disease_ontology DOID:0110568 autosomal dominant nonsyndromic deafness 43 DOID:0110568 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12. url:https://www.ncbi.nlm.nih.gov/pubmed/12676899 DFNA43 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28. ICD10CM:H90.3 MIM:607453 DFNA44 autosomal dominant deafness 44 disease_ontology DOID:0110569 autosomal dominant nonsyndromic deafness 44 DOID:0110569 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28. url:https://www.ncbi.nlm.nih.gov/pubmed/17503326 DFNA44 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21. ICD10CM:H90.3 MIM:608652 DFNA47 autosomal dominant deafness 47 disease_ontology DOID:0110570 autosomal dominant nonsyndromic deafness 47 DOID:0110570 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21. url:https://www.ncbi.nlm.nih.gov/pubmed/12634859 DFNA47 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14. ICD10CM:H90.3 MIM:607841 DFNA48 autosomal dominant deafness 48 disease_ontology DOID:0110571 autosomal dominant nonsyndromic deafness 48 DOID:0110571 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14. url:https://www.ncbi.nlm.nih.gov/pubmed/12736868 DFNA48 An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23. ICD10CM:H90.3 MIM:608372 DFNA49 autosomal dominant deafness 49 disease_ontology DOID:0110572 autosomal dominant nonsyndromic deafness 49 DOID:0110572 An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23. url:https://www.ncbi.nlm.nih.gov/pubmed/14627674 DFNA49 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33. ICD10CM:H90.3 MIM:600652 DFNA4A autosomal dominant deafness 4A disease_ontology DOID:0110573 autosomal dominant nonsyndromic deafness 4A DOID:0110573 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33. url:https://www.ncbi.nlm.nih.gov/pubmed/15015131 DFNA4A An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13. ICD10CM:H90.3 MIM:614614 DFNA4B autosomal dominant deafness 4B disease_ontology DOID:0110574 autosomal dominant nonsyndromic deafness 4B DOID:0110574 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/21368133 DFNA4B An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15. ICD10CM:H90.3 MIM:600994 DFNA5 autosomal dominant deafness 5 disease_ontology DOID:0110575 autosomal dominant nonsyndromic deafness 5 DOID:0110575 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15. url:https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss url:https://www.ncbi.nlm.nih.gov/pubmed/29849037 url:https://www.omim.org/entry/600994 DFNA5 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32. ICD10CM:H90.3 MIM:613074 DFNA50 autosomal dominant deafness 50 disease_ontology DOID:0110576 autosomal dominant nonsyndromic deafness 50 DOID:0110576 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32. url:https://www.ncbi.nlm.nih.gov/pubmed/19363479 DFNA50 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. ICD10CM:H90.3 MIM:613558 DFNA51 autosomal dominant deafness 51 chromosome 9q21.11 duplication syndrome disease_ontology DOID:0110577 autosomal dominant nonsyndromic deafness 51 DOID:0110577 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. url:https://www.ncbi.nlm.nih.gov/pubmed/20602916 DFNA51 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32. DFNA52 autosomal dominant deafness 52 disease_ontology DOID:0110578 Merged by OMIM. Same gene as 'term replaced by'. [JAB] obsolete autosomal dominant nonsyndromic deafness 52 true DOID:0110578 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32. url:https://pubmed.ncbi.nlm.nih.gov/12522684/ url:https://pubmed.ncbi.nlm.nih.gov/27535032/ DFNA52 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12. GARD:9934 ICD10CM:H90.3 MIM:609965 DFNA53 autosomal dominant deafness 53 disease_ontology DOID:0110579 autosomal dominant nonsyndromic deafness 53 DOID:0110579 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12. url:https://www.ncbi.nlm.nih.gov/pubmed/15958501 DFNA53 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31. ICD10CM:H90.3 MIM:615649 DFNA54 autosomal dominant deafness 54 disease_ontology DOID:0110580 autosomal dominant nonsyndromic deafness 54 DOID:0110580 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31. url:https://www.ncbi.nlm.nih.gov/pubmed/15490091 DFNA54 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33. ICD10CM:H90.3 MIM:615629 DFNA56 autosomal dominant deafness 56 disease_ontology DOID:0110581 autosomal dominant nonsyndromic deafness 56 DOID:0110581 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33. url:https://www.ncbi.nlm.nih.gov/pubmed/23936043 DFNA56 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12. ICD10CM:H90.3 MIM:615654 DFNA58 autosomal dominant deafness 58 disease_ontology DOID:0110582 autosomal dominant nonsyndromic deafness 58 DOID:0110582 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12. url:https://www.ncbi.nlm.nih.gov/pubmed/19159392 DFNA58 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3. ICD10CM:H90.3 MIM:612642 DFNA59 autosomal dominant deafness 59 disease_ontology DOID:0110583 autosomal dominant nonsyndromic deafness 59 DOID:0110583 An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19030898 DFNA59 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16. ICD10CM:H90.3 MIM:600965 DFNA14 DFNA38 DFNA6 DFNA6/14/38 autosomal dominant deafness 14 autosomal dominant deafness 38 autosomal dominant deafness 6 disease_ontology DOID:0110584 autosomal dominant nonsyndromic deafness 6 DOID:0110584 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16. url:https://www.ncbi.nlm.nih.gov/pubmed/11709537 url:https://www.ncbi.nlm.nih.gov/pubmed/11709538 DFNA14 DFNA38 DFNA6 DFNA6/14/38 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24. ICD10CM:H90.3 MIM:614152 DFNA64 autosomal dominant deafness 64 disease_ontology DOID:0110585 autosomal dominant nonsyndromic deafness 64 DOID:0110585 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21722859 DFNA64 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. ICD10CM:H90.3 MIM:616044 DFNA65 autosomal dominant deafness 65 disease_ontology DOID:0110586 autosomal dominant nonsyndromic deafness 65 DOID:0110586 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/24729539 url:https://www.ncbi.nlm.nih.gov/pubmed/24729547 DFNA65 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21. ICD10CM:H90.3 MIM:616969 DFNA66 autosomal dominant deafness 66 disease_ontology DOID:0110587 autosomal dominant nonsyndromic deafness 66 DOID:0110587 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21. url:https://www.ncbi.nlm.nih.gov/pubmed/26197441 DFNA66 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13. ICD10CM:H90.3 MIM:616340 DFNA67 autosomal dominant deafness 67 disease_ontology DOID:0110588 autosomal dominant nonsyndromic deafness 67 DOID:0110588 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/25077649 DFNA67 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25. ICD10CM:H90.3 MIM:616707 DFNA68 autosomal dominant deafness 68 disease_ontology DOID:0110589 autosomal dominant nonsyndromic deafness 68 DOID:0110589 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25. url:https://www.ncbi.nlm.nih.gov/pubmed/25816005 DFNA68 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21. ICD10CM:H90.3 MIM:616697 DCUA DFNA69 autosomal dominant deafness 69 unilateral or asymmetric congenital deafness disease_ontology DOID:0110590 autosomal dominant nonsyndromic deafness 69 DOID:0110590 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21. url:https://www.ncbi.nlm.nih.gov/pubmed/26522471 DCUA DFNA69 An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23. ICD10CM:H90.3 MIM:601412 DFNA7 autosomal dominant deafness 7 disease_ontology DOID:0110591 autosomal dominant nonsyndromic deafness 7 DOID:0110591 An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23. url:https://www.ncbi.nlm.nih.gov/pubmed/8842739 DFNA7 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21. ICD10CM:H90.3 MIM:616968 DFNA70 autosomal dominant deafness 70 disease_ontology DOID:0110592 autosomal dominant nonsyndromic deafness 70 DOID:0110592 An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21. url:https://www.ncbi.nlm.nih.gov/pubmed/26196677 DFNA70 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12. ICD10CM:H90.3 MIM:601369 DFNA9 autosomal dominant deafness 9 disease_ontology DOID:0110593 autosomal dominant nonsyndromic deafness 9 DOID:0110593 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12. url:https://www.ncbi.nlm.nih.gov/pubmed/9806553 DFNA9 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13. ICD10CM:Q34.8 MIM:244400 CILD1 primary ciliary dyskinesia 1 with or without situs inversus disease_ontology DOID:0110594 primary ciliary dyskinesia 1 DOID:0110594 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13. url:https://www.ncbi.nlm.nih.gov/pubmed/10577904 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD1 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. ICD10CM:Q87.8 MIM:243605 CILD31 apple peel syndrome with microcephaly and ocular anomalies jejunal atresia with microcephaly and ocular anomalies lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome primary ciliary dyskinesia 31 disease_ontology DOID:0110595 Stromme syndrome DOID:0110595 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. url:https://www.ncbi.nlm.nih.gov/pubmed/25564561 CILD31 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. ICD10CM:Q34.8 MIM:615294 CILD21 primary ciliary dyskinesia 21 without situs inversus disease_ontology DOID:0110596 primary ciliary dyskinesia 21 DOID:0110596 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. url:https://www.ncbi.nlm.nih.gov/pubmed/23354437 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD21 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21. ICD10CM:Q34.8 MIM:615444 CILD22 primary ciliary dyskinesia 22 with or without situs inversus disease_ontology DOID:0110597 primary ciliary dyskinesia 22 DOID:0110597 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/23891469 url:https://www.ncbi.nlm.nih.gov/pubmed/23891471 CILD22 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. ICD10CM:Q34.8 MIM:613807 CILD14 primary ciliary dyskinesia 14 with or without situs inversus disease_ontology DOID:0110598 primary ciliary dyskinesia 14 DOID:0110598 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. url:https://www.ncbi.nlm.nih.gov/pubmed/21131972 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD14 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. ICD10CM:Q34.8 MIM:608644 CILD3 primary ciliary dyskinesia 3 with or without situs inversus disease_ontology DOID:0110599 primary ciliary dyskinesia 3 DOID:0110599 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. url:https://www.ncbi.nlm.nih.gov/pubmed/11788826 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD3 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15. ICD10CM:Q34.8 MIM:615872 CILD29 primary ciliary dyskinesia 29 without situs inversus disease_ontology DOID:0110600 primary ciliary dyskinesia 29 DOID:0110600 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15. url:https://www.ncbi.nlm.nih.gov/pubmed/24747639 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD29 A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21. ICD10CM:Q34.8 MIM:612650 CILD12 primary ciliary dyskinesia 12 without situs inversus disease_ontology DOID:0110601 primary ciliary dyskinesia 12 DOID:0110601 A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/19200523 CILD12 A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22. ICD10CM:Q34.8 MIM:612649 CILD11 primary ciliary dyskinesia 11 without situs inversus disease_ontology DOID:0110602 primary ciliary dyskinesia 11 DOID:0110602 A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22. url:https://www.ncbi.nlm.nih.gov/pubmed/19200523 CILD11 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25. ICD10CM:Q34.8 MIM:616481 CILD32 primary ciliary dyskinesia 32 without situs inversus disease_ontology DOID:0110603 primary ciliary dyskinesia 32 DOID:0110603 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25. url:https://www.ncbi.nlm.nih.gov/pubmed/26073779 CILD32 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22. ICD10CM:Q34.8 MIM:614874 CILD18 primary ciliary dyskinesia 18 with or without situs inversus disease_ontology DOID:0110604 primary ciliary dyskinesia 18 DOID:0110604 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22. url:https://www.ncbi.nlm.nih.gov/pubmed/23040496 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD18 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21. ICD10CM:Q34.8 MIM:611884 CILD7 primary ciliary dyskinesia 7 with or without situs inversus disease_ontology DOID:0110605 primary ciliary dyskinesia 7 DOID:0110605 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21. url:https://www.ncbi.nlm.nih.gov/pubmed/18022865 CILD7 A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1. ICD10CM:Q34.8 MIM:610852 CILD6 disease_ontology DOID:0110606 primary ciliary dyskinesia 6 DOID:0110606 A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17360648 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD6 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22. ICD10CM:Q34.8 MIM:615505 CILD28 primary ciliary dyskinesia 28 with or without situs inversus disease_ontology DOID:0110607 primary ciliary dyskinesia 28 DOID:0110607 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22. url:https://www.ncbi.nlm.nih.gov/pubmed/24055112 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD28 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24. ICD10CM:Q34.8 MIM:614935 CILD19 primary ciliary dyskinesia 19 with or without situs inversus disease_ontology DOID:0110608 primary ciliary dyskinesia 19 DOID:0110608 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24. url:https://www.ncbi.nlm.nih.gov/pubmed/23122589 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD19 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p. ICD10CM:Q34.8 MIM:615451 CILD23 primary ciliary dyskinesia 23 with or without situs inversus disease_ontology DOID:0110609 primary ciliary dyskinesia 23 DOID:0110609 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p. url:https://www.ncbi.nlm.nih.gov/pubmed/23849778 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD23 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13. MIM:617091 CILD34 primary ciliary dyskinesia 34 without situs inversus disease_ontology DOID:0110610 primary ciliary dyskinesia 34 DOID:0110610 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/27486783 CILD34 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13. ICD10CM:Q34.8 MIM:615504 CILD27 primary ciliary dyskinesia 27 without situs inversus disease_ontology DOID:0110611 primary ciliary dyskinesia 27 DOID:0110611 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/24094744 CILD27 A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21. ICD10CM:Q34.8 MIM:612518 CILD10 primary ciliary dyskinesia 10 with or without situs inversus disease_ontology DOID:0110612 primary ciliary dyskinesia 10 DOID:0110612 A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21. url:https://www.ncbi.nlm.nih.gov/pubmed/19052621 CILD10 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3. ICD10CM:Q34.8 MIM:614017 CILD16 primary ciliary dyskinesia 16 with or without situs inversus disease_ontology DOID:0110613 primary ciliary dyskinesia 16 DOID:0110613 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21496787 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD16 A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1. ICD10CM:Q34.8 MIM:608646 CILD4 primary ciliary dyskinesia 4 with or without situs inversus disease_ontology DOID:0110614 primary ciliary dyskinesia 4 DOID:0110614 A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1. url:https://www.ncbi.nlm.nih.gov/pubmed/14985390 CILD4 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21. ICD10CM:Q34.8 MIM:615482 CILD25 primary ciliary dyskinesia 25 with or without situs inversus disease_ontology DOID:0110615 primary ciliary dyskinesia 25 DOID:0110615 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21. url:https://www.ncbi.nlm.nih.gov/pubmed/23872636 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD25 A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25. ICD10CM:Q34.8 MIM:612274 CILD8 primary ciliary dyskinesia 8 with or without situs inversus disease_ontology DOID:0110616 primary ciliary dyskinesia 8 DOID:0110616 A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25. url:https://www.ncbi.nlm.nih.gov/pubmed/18270537 CILD8 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22. ICD10CM:Q34.8 MIM:608647 CILD5 primary ciliary dyskinesia 5 without situs inversus disease_ontology DOID:0110617 primary ciliary dyskinesia 5 DOID:0110617 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22. url:https://www.ncbi.nlm.nih.gov/pubmed/23022101 CILD5 A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24. ICD10CM:Q34.8 MIM:613193 CILD13 primary ciliary dyskinesia 13 with or without situs inversus disease_ontology DOID:0110618 primary ciliary dyskinesia 13 DOID:0110618 A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24. url:https://www.ncbi.nlm.nih.gov/pubmed/19944400 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD13 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24. ICD10CM:Q34.8 MIM:616726 CILD33 primary ciliary dyskinesia 33 without situs inversus disease_ontology DOID:0110619 primary ciliary dyskinesia 33 DOID:0110619 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24. url:https://www.ncbi.nlm.nih.gov/pubmed/26387594 CILD33 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21. MIM:617092 CILD35 primary ciliary dyskinesia 35 with or without situs inversus disease_ontology DOID:0110620 primary ciliary dyskinesia 35 DOID:0110620 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21. url:https://www.ncbi.nlm.nih.gov/pubmed/27486780 CILD35 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21. ICD10CM:Q34.8 MIM:614679 CILD17 primary ciliary dyskinesia 17 with or without situs inversus disease_ontology DOID:0110621 primary ciliary dyskinesia 17 DOID:0110621 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21. url:https://www.ncbi.nlm.nih.gov/pubmed/22581229 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD17 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25. ICD10CM:Q34.8 MIM:612444 CILD9 primary ciliary dyskinesia 9 with or without situs inversus disease_ontology DOID:0110622 primary ciliary dyskinesia 9 DOID:0110622 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25. url:https://www.ncbi.nlm.nih.gov/pubmed/18950741 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD9 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25. ICD10CM:Q34.8 MIM:613808 CILD15 primary ciliary dyskinesia 15 with or without situs inversus disease_ontology DOID:0110623 primary ciliary dyskinesia 15 DOID:0110623 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25. url:https://www.ncbi.nlm.nih.gov/pubmed/21131974 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD15 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13. ICD10CM:Q34.8 MIM:616037 CILD30 primary ciliary dyskinesia 30 without situs inversus disease_ontology DOID:0110624 primary ciliary dyskinesia 30 DOID:0110624 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/25192045 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD30 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13. ICD10CM:Q34.8 MIM:615067 CILD20 primary ciliary dyskinesia 20 with or without situs inversus disease_ontology DOID:0110625 primary ciliary dyskinesia 20 DOID:0110625 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/23261303 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD20 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13. ICD10CM:Q34.8 MIM:606763 CILD2 primary ciliary dyskinesia 2 with or without situs inversus disease_ontology DOID:0110626 primary ciliary dyskinesia 2 DOID:0110626 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/22387996 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD2 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22. ICD10CM:Q34.8 MIM:615500 CILD26 primary ciliary dyskinesia 26 with or without situs inversus disease_ontology DOID:0110627 primary ciliary dyskinesia 26 DOID:0110627 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22. url:https://www.ncbi.nlm.nih.gov/pubmed/24094744 url:https://www.ncbi.nlm.nih.gov/pubmed/26998415 CILD26 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22. ICD10CM:Q34.8 MIM:615481 CILD24 primary ciliary dyskinesia 24 without situs inversus disease_ontology DOID:0110628 primary ciliary dyskinesia 24 DOID:0110628 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22. url:https://www.ncbi.nlm.nih.gov/pubmed/23993197 CILD24 An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. ICD10CM:E13.8 MIM:222300 DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness disease_ontology DOID:0110629 Wolfram syndrome 1 DOID:0110629 An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. url:https://www.ncbi.nlm.nih.gov/pubmed/21538838 DIDMOAD WFS1 An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24. ICD10CM:E13.8 MESH:C565733 MIM:604928 WFS2 disease_ontology DOID:0110630 Wolfram syndrome 2 DOID:0110630 An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24. url:https://www.ncbi.nlm.nih.gov/pubmed/25056293 WFS2 A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome. congenital muscular dystrophy producing arthrogryposis disease_ontology DOID:0110631 MIM:253900 and ORDO:1155 cross references have been obsoleted. See arthrogryposis multiplex congenita (DOID:0080954). obsolete arthrogryposis due to muscular dystrophy true DOID:0110631 A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome. url:https://www.ncbi.nlm.nih.gov/pubmed/13942250 A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13. ICD10CM:G71.2 MIM:602541 ORDO:280671 congenital megaconial myopathy congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect congenital muscular dystrophy with mitochondrial structural abnormalities megaconial congenital muscular dystrophy disease_ontology DOID:0110632 megaconial type congenital muscular dystrophy DOID:0110632 A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13. url:https://www.ncbi.nlm.nih.gov/pubmed/16371353 url:https://www.ncbi.nlm.nih.gov/pubmed/21665002 A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. GARD:4723 ICD10CM:G71.2 ICD10CM:G71.8 MESH:C535683 MIM:602771 ORDO:324604 ORDO:84132 ORDO:97244 Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SEPN1-related myopathy classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy rigid spine syndrome severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease disease_ontology DOID:0110633 rigid spine muscular dystrophy 1 DOID:0110633 A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/11528383 url:https://www.ncbi.nlm.nih.gov/pubmed/12192640 url:https://www.ncbi.nlm.nih.gov/pubmed/15122708 MDRS1 RSMD1 RSS A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42. ICD10CM:G71.2 MIM:604801 ORDO:98893 CMD1B MDC1B congenital muscular dystrophy type 1B disease_ontology DOID:0110634 congenital muscular dystrophy 1B DOID:0110634 A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/10677302 CMD1B MDC1B A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. ICD10CM:G71.2 MIM:606612 ORDO:52428 FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 disease_ontology DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 DOID:0110635 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11592034 url:https://www.ncbi.nlm.nih.gov/pubmed/14652796 MDC1C MDDGB5 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. MESH:C537384 MIM:607855 NCI:C118783 ORDO:258 SNOMEDCT_US_2023_03_01:787037000 UMLS_CUI:C1263858 CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency disease_ontology DOID:0110636 congenital merosin-deficient muscular dystrophy 1A DOID:0110636 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. url:https://www.ncbi.nlm.nih.gov/pubmed/24611677 url:https://www.ncbi.nlm.nih.gov/pubmed/7550355 CMD1A MDC1A A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. ICD10CM:G71.2 MIM:608840 ORDO:98894 MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 disease_ontology DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 DOID:0110637 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. url:https://www.ncbi.nlm.nih.gov/pubmed/12966029 url:https://www.ncbi.nlm.nih.gov/pubmed/19067344 MDC1D MDDGB6 A congenital muscular dystrophy characterized by autosomal recessive inheritance of generalized muscle weakness and hypotonia without arthrogryposis or central nervous system involvement that has_material_basis_in mutation in the chromosome region 4p16.3. disease_ontology DOID:0110638 Initially reported patients determined by original authors to have DOID:0110668 (see PMID:22884442). obsolete congenital muscular dystrophy merosin-positive true DOID:0110638 A congenital muscular dystrophy characterized by autosomal recessive inheritance of generalized muscle weakness and hypotonia without arthrogryposis or central nervous system involvement that has_material_basis_in mutation in the chromosome region 4p16.3. url:https://pubmed.ncbi.nlm.nih.gov/22884442/ url:https://www.ncbi.nlm.nih.gov/pubmed/1483054 url:https://www.ncbi.nlm.nih.gov/pubmed/15886997 A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. ICD10CM:G71.2 MIM:613204 ORDO:34520 congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency disease_ontology DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency DOID:0110639 A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/9590299 A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. ICD10CM:G71.2 MIM:613205 ORDO:157973 L-CMD LMNA-related congenital muscular dystrophy congenital muscular dystrophy LMNA-related disease_ontology DOID:0110640 congenital muscular dystrophy due to LMNA mutation DOID:0110640 A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/15148145 url:https://www.ncbi.nlm.nih.gov/pubmed/18551513 L-CMD A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4. GARD:3284 ICD10CM:I45.8 MIM:192500 LQT1 ventricular fibrillation with prolonged QT interval disease_ontology DOID:0110644 long QT syndrome 1 DOID:0110644 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4. url:https://www.ncbi.nlm.nih.gov/pubmed/17192539 LQT1 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1. GARD:3285 ICD10CM:I45.8 MESH:C563614 MIM:613688 LQT2 disease_ontology DOID:0110645 long QT syndrome 2 DOID:0110645 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1. url:https://www.ncbi.nlm.nih.gov/pubmed/7889573 LQT2 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2. GARD:3286 ICD10CM:I45.8 MESH:C565840 MIM:603830 LQT3 disease_ontology DOID:0110646 long QT syndrome 3 DOID:0110646 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/8541846 LQT3 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12. GARD:10433 ICD10CM:I45.8 MESH:C566766 MIM:613695 LQT5 disease_ontology DOID:0110647 long QT syndrome 5 DOID:0110647 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12. url:https://www.ncbi.nlm.nih.gov/pubmed/10973849 LQT5 A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11. GARD:10434 ICD10CM:I45.8 MESH:C566333 MIM:613693 LQT6 disease_ontology DOID:0110648 long QT syndrome 6 DOID:0110648 A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11. url:https://www.ncbi.nlm.nih.gov/pubmed/10219239 LQT6 A long QT syndrome characterized by a prolonged QT interval and polymorphic ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. MIM:618447 LQT8 disease_ontology DOID:0110649 long QT syndrome 8 MIM:618447 DOID:0110649 A long QT syndrome characterized by a prolonged QT interval and polymorphic ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. url:https://pubmed.ncbi.nlm.nih.gov/34079780 url:https://pubmed.ncbi.nlm.nih.gov/37132248/ url:https://www.omim.org/MIM:618447 LQT8 A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3. GARD:10435 ICD10CM:I45.8 MESH:C567515 MIM:611818 LQT9 disease_ontology DOID:0110650 long QT syndrome 9 DOID:0110650 A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17060380 LQT9 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3. GARD:10436 ICD10CM:I45.8 MESH:C567514 MIM:611819 LQT10 disease_ontology DOID:0110651 long QT syndrome 10 DOID:0110651 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17592081 LQT10 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2. GARD:10437 ICD10CM:I45.8 MESH:C567513 MIM:611820 LQT11 disease_ontology DOID:0110652 long QT syndrome 11 DOID:0110652 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/18093912 LQT11 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21. ICD10CM:I45.8 MESH:C567842 MIM:612955 LQT12 disease_ontology DOID:0110653 long QT syndrome 12 DOID:0110653 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/19684871 LQT12 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3. ICD10CM:I45.8 MIM:613485 LQT13 disease_ontology DOID:0110654 long QT syndrome 13 DOID:0110654 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/20560207 LQT13 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11. ICD10CM:I45.8 MIM:616247 LQT14 disease_ontology DOID:0110655 long QT syndrome 14 DOID:0110655 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11. url:https://www.ncbi.nlm.nih.gov/pubmed/24076290 LQT14 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21. ICD10CM:I45.8 MIM:616249 LQT15 disease_ontology DOID:0110656 long QT syndrome 15 DOID:0110656 A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21. url:https://www.ncbi.nlm.nih.gov/pubmed/23388215 LQT15 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. MIM:615120 CMS8 congenital myasthenic syndrome 8 with pre- and postsynaptic defects congenital myasthenic syndrome due to agrin deficiency disease_ontology DOID:0110657 congenital myasthenic syndrome 8 DOID:0110657 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. url:https://www.ncbi.nlm.nih.gov/pubmed/19631309 url:https://www.ncbi.nlm.nih.gov/pubmed/22205389 CMS8 A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21. MIM:616227 CMS15 congenital myasthenic syndrome 15 without tubular aggregates disease_ontology DOID:0110658 congenital myasthenic syndrome 15 DOID:0110658 A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21. url:https://www.ncbi.nlm.nih.gov/pubmed/23404334 CMS15 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. MIM:616040 CMS7 congenital myasthenic syndrome 7 presynaptic disease_ontology DOID:0110659 congenital myasthenic syndrome 7 DOID:0110659 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. url:https://www.ncbi.nlm.nih.gov/pubmed/25192047 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 CMS7 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. MIM:610542 CMS12 congenital myasthenia 12 with tubular aggregates disease_ontology DOID:0110660 congenital myasthenic syndrome 12 DOID:0110660 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. url:https://www.ncbi.nlm.nih.gov/pubmed/12467753 url:https://www.ncbi.nlm.nih.gov/pubmed/21310273 CMS12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12. MIM:617143 CMS20 congenital myasthenic syndrome 20 presynaptic disease_ontology DOID:0110661 congenital myasthenic syndrome 20 DOID:0110661 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12. url:https://www.ncbi.nlm.nih.gov/pubmed/27569547 CMS20 A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. MIM:608930 CMS1B congenital myasthenic syndrome 1B, fast-channel disease_ontology DOID:0110662 congenital myasthenic syndrome 1B DOID:0110662 A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. url:https://www.ncbi.nlm.nih.gov/pubmed/10195214 url:https://www.ncbi.nlm.nih.gov/pubmed/15079006 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 CMS1B A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. MIM:601462 CMS IIa CMS1A congenital myasthenic syndrome 1A, slow-channel congenital myasthenic syndrome type IIa disease_ontology DOID:0110663 congenital myasthenic syndrome 1A DOID:0110663 A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 url:https://www.ncbi.nlm.nih.gov/pubmed/7619526 CMS IIa CMS1A A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37. MIM:616323 congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency disease_ontology DOID:0110664 congenital myasthenic syndrome 3C DOID:0110664 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/16916845 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. MIM:616322 CMS3B congenital myasthenic syndrome 3B, fast-channel disease_ontology DOID:0110665 congenital myasthenic syndrome 3B DOID:0110665 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/11435464 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 CMS3B A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. MIM:616321 CMS3A congenital myasthenic syndrome 3A, slow-channel disease_ontology DOID:0110666 congenital myasthenic syndrome 3A DOID:0110666 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/11782989 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 CMS3A A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25. MIM:603034 CMS Ic CMS5 EAD Engel congenital myasthenic syndrome congenital myasthenic syndrome Engel type congenital myasthenic syndrome type Ic end plate acetylcholinesterase deficiency disease_ontology DOID:0110667 congenital myasthenic syndrome 5 DOID:0110667 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25. url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 CMS Ic CMS5 EAD A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16. DOID:0110638 MIM:254300 CMS10 LGM congenital muscular dystrophy merosin-positive familial limb-girdle myasthenia disease_ontology DOID:0110668 congenital myasthenic syndrome 10 DOID:0110668 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16. url:https://pubmed.ncbi.nlm.nih.gov/22884442/ url:https://www.ncbi.nlm.nih.gov/pubmed/16917026 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 CMS10 LGM A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. MIM:616228 CMS14 CMSTA3 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome with tubular aggregates 3 disease_ontology DOID:0110669 congenital myasthenic syndrome 14 DOID:0110669 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/23404334 url:https://www.ncbi.nlm.nih.gov/pubmed/24461433 CMS14 CMSTA3 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. MIM:616325 CMS9 congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency disease_ontology DOID:0110670 congenital myasthenic syndrome 9 DOID:0110670 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. url:https://www.ncbi.nlm.nih.gov/pubmed/15496425 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 CMS9 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. MIM:254210 CMS Ia2 CMS1A2 CMS6 CMSEA FIM FIMG2 congenital myasthenic syndrome 6, presynaptic congenital myasthenic syndrome type Ia2 congenital presynaptic myasthenic syndrome associated with episodic apnea familial infantile myasthenia familial infantile myasthenia gravis 2 disease_ontology DOID:0110671 congenital myasthenic syndrome 6 DOID:0110671 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. url:https://www.ncbi.nlm.nih.gov/pubmed/11172068 url:https://www.ncbi.nlm.nih.gov/pubmed/12756141 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 CMS Ia2 CMS1A2 CMS6 CMSEA FIM FIMG2 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. MIM:617239 CMS21 congenital myasthenic syndrome 21, presynaptic disease_ontology DOID:0110672 congenital myasthenic syndrome 21 DOID:0110672 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. url:https://www.ncbi.nlm.nih.gov/pubmed/20123977 url:https://www.ncbi.nlm.nih.gov/pubmed/27590285 CMS21 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. MIM:616720 CMS19 disease_ontology DOID:0110673 congenital myasthenic syndrome 19 DOID:0110673 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. url:https://www.ncbi.nlm.nih.gov/pubmed/26626625 CMS19 A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. MIM:616304 CMS17 disease_ontology DOID:0110674 congenital myasthenic syndrome 17 DOID:0110674 A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. url:https://www.ncbi.nlm.nih.gov/pubmed/24234652 CMS17 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. MIM:616326 CMS Ie CMS11 CMS1E congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency congenital myasthenic syndrome 1e disease_ontology DOID:0110675 congenital myasthenic syndrome 11 DOID:0110675 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. url:https://www.ncbi.nlm.nih.gov/pubmed/12651869 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 CMS Ie CMS11 CMS1E A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. MIM:614750 CMS13 CMSTA2 congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome with tubular aggregates 2 disease_ontology DOID:0110676 congenital myasthenic syndrome 13 DOID:0110676 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/16870884 url:https://www.ncbi.nlm.nih.gov/pubmed/22742743 CMS13 CMSTA2 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. MIM:616324 CMS4B congenital myasthenic syndrome 4B fast-channel disease_ontology DOID:0110677 congenital myasthenic syndrome 4B DOID:0110677 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 url:https://www.ncbi.nlm.nih.gov/pubmed/8755487 CMS4B A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. MIM:605809 CMS Ia1 CMS1A1 CMS4A congenital myasthenic syndrome 4A slow-channel congenital myasthenic syndrometype Ia1 disease_ontology DOID:0110678 congenital myasthenic syndrome 4A DOID:0110678 A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/12141316 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 url:https://www.ncbi.nlm.nih.gov/pubmed/7531341 CMS Ia1 CMS1A1 CMS4A A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. MIM:608931 CMS Id CMS1D CMS4C FIM1 congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type Id familial infantile myasthenia 1 disease_ontology DOID:0110679 congenital myasthenic syndrome 4C DOID:0110679 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 url:https://www.ncbi.nlm.nih.gov/pubmed/8957026 CMS Id CMS1D CMS4C FIM1 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. MIM:616314 CMS2C congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency disease_ontology DOID:0110680 congenital myasthenic syndrome 2C DOID:0110680 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/10562302 url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 CMS2C A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. MIM:616313 CMS2A congenital myasthenic syndrome 2A slow-channel disease_ontology DOID:0110681 congenital myasthenic syndrome 2A DOID:0110681 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. url:https://www.ncbi.nlm.nih.gov/pubmed/25792100 url:https://www.ncbi.nlm.nih.gov/pubmed/8872460 CMS2A A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23. MIM:614198 CMS16 congenital myasthenic syndrome acetazolamide-responsive disease_ontology DOID:0110682 congenital myasthenic syndrome 16 DOID:0110682 A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23. url:https://www.ncbi.nlm.nih.gov/pubmed/12766226 CMS16 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. MIM:616330 CMS18 disease_ontology DOID:0110683 congenital myasthenic syndrome 18 DOID:0110683 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. url:https://www.ncbi.nlm.nih.gov/pubmed/25381298 CMS18 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22. MIM:605389 HHS HTS HYPT1 hereditary generalized hypotrichosis simplex disease_ontology DOID:0110698 hypotrichosis 1 DOID:0110698 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22. url:https://www.ncbi.nlm.nih.gov/pubmed/10878665 HHS HTS HYPT1 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33. MIM:146520 HTSS1 HYPT2 Spanish type hypotrichosis hypotrichosis simplex of the scalp 1 disease_ontology DOID:0110699 hypotrichosis 2 DOID:0110699 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33. url:https://www.ncbi.nlm.nih.gov/pubmed/12754508 HTSS1 HYPT2 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT74 gene on chromosome 12q13.13. MIM:613981 HTSS2 HYPT3 hypotrichosis simplex of the scalp 2 disease_ontology DOID:0110700 hypotrichosis 3 DOID:0110700 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT74 gene on chromosome 12q13.13. url:https://www.ncbi.nlm.nih.gov/pubmed/21188418 HTSS2 HYPT3 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3. MIM:146550 HYPT4 Hypotrichosis, Marie Unna Type, 1 MUHH1 Marie Unna Hereditary Hypotrichosis 1 disease_ontology DOID:0110701 hypotrichosis 4 DOID:0110701 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19122663 HYPT4 MUHH1 A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3. MESH:C567554 MIM:612841 HYPT5 MUHH2 Marie Unna Hereditary Hypotrichosis 2 disease_ontology DOID:0110702 hypotrichosis 5 DOID:0110702 A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/16185270 HYPT5 MUHH2 A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1. MIM:607903 HYPT6 Hypotrichosis, Localized, Autosomal Recessive 1 LAH1 Monilethrix-like hypotrichosis autosomal recessive localized hypotrichosis disease_ontology DOID:0110703 hypotrichosis 6 DOID:0110703 A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/12891384 HYPT6 LAH1 A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2. MIM:604379 HYPT7 LAH2 hypotrichosis, localized, autosomal recessive 2 total hyptrichosis, Mari type disease_ontology DOID:0110704 hypotrichosis 7 DOID:0110704 A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2. url:https://www.ncbi.nlm.nih.gov/pubmed/20393562 HYPT7 LAH2 A hypotrichosis has_material_basis_in a autosomal recessive mutation of the LPAR6 gene on chromosome 13q14.2. MIM:278150 HYPT8 LAH3 hypotrichosis, localized, autosomal recessive 3 disease_ontology DOID:0110705 hypotrichosis 8 DOID:0110705 A hypotrichosis has_material_basis_in a autosomal recessive mutation of the LPAR6 gene on chromosome 13q14.2. url:https://www.ncbi.nlm.nih.gov/pubmed/18297072 HYPT8 LAH3 A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3. MIM:614237 HYPT9 disease_ontology DOID:0110706 hypotrichosis 9 DOID:0110706 A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/20054564 HYPT9 A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3. MIM:614238 HYPT10 disease_ontology DOID:0110707 hypotrichosis 10 DOID:0110707 A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/20544222 HYPT10 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the SNRPE gene on chromosome 1q32.1. MIM:615059 HYPT11 disease_ontology DOID:0110708 hypotrichosis 11 DOID:0110708 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the SNRPE gene on chromosome 1q32.1. url:https://www.ncbi.nlm.nih.gov/pubmed/23246290 HYPT11 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the RPL21 gene on chromosome 13q12.2. MIM:615885 HYPT12 disease_ontology DOID:0110709 hypotrichosis 12 DOID:0110709 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the RPL21 gene on chromosome 13q12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/21412954 HYPT12 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13. MIM:615896 HYPT13 hypotrichosis with woolly hair disease_ontology DOID:0110710 hypotrichosis 13 DOID:0110710 A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13. url:https://www.ncbi.nlm.nih.gov/pubmed/22592156 HYPT13 A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1. GARD:3066 MIM:601553 HJMD hypotrichosis with cone-rod dystrophy disease_ontology DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy DOID:0110711 A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11544476 HJMD A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37. MIM:258100 CSNBO1 congenital stationary night blindness Oguchi type 1 disease_ontology DOID:0110712 Oguchi disease-1 DOID:0110712 A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/15234147 url:https://www.ncbi.nlm.nih.gov/pubmed/7670478 CSNBO1 A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. MIM:613411 CSNBO2 congenital stationary night blindness Oguchi type 2 disease_ontology DOID:0110713 Oguchi disease-2 DOID:0110713 A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. url:https://www.ncbi.nlm.nih.gov/pubmed/7670478 url:https://www.ncbi.nlm.nih.gov/pubmed/9020843 CSNBO2 A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21. MIM:616389 CSNB1G congenital stationary night blindness type 1G disease_ontology DOID:0110714 congenital stationary night blindness 1G DOID:0110714 A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/22190596 CSNB1G A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21. MIM:610444 CSNBAD3 Nougaret type congenital stationary night blindness disease_ontology DOID:0110715 congenital stationary night blindness autosomal dominant 3 DOID:0110715 A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/8673138 CSNBAD3 A Warburg micro syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severely impaired intellectual development, spastic diplegia, and hypogonadism that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21. ICD10CM:Q87.0 MIM:600118 Micro Syndrome 1 WARBM1 disease_ontology DOID:0110716 Warburg micro syndrome 1 DOID:0110716 A Warburg micro syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severely impaired intellectual development, spastic diplegia, and hypogonadism that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21. url:https://pubmed.ncbi.nlm.nih.gov/20512159/ WARBM1 A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. ICD10CM:Q87.0 MIM:614225 Micro Syndrome 2 WARBM2 disease_ontology DOID:0110717 Warburg micro syndrome 2 DOID:0110717 A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. url:https://www.ncbi.nlm.nih.gov/pubmed/20967465 WARBM2 A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12. ICD10CM:Q87.0 MIM:614222 Micro Syndrome 3 WARBM3 disease_ontology DOID:0110718 Warburg micro syndrome 3 DOID:0110718 A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12. url:https://www.ncbi.nlm.nih.gov/pubmed/15216543 WARBM3 A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13. ICD10CM:Q87.0 MIM:615663 Micro Syndrome 4 WARBM4 disease_ontology DOID:0110719 Warburg micro syndrome 4 DOID:0110719 A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13. url:https://www.ncbi.nlm.nih.gov/pubmed/24239381 WARBM4 A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inheritance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene on chromosome 20q13. ICD10CM:E75.4 MIM:162350 ORDO:228343 CLN4B disease autosomal dominant neuronal ceroid lipofuscinosis 4B neuronal ceroid lipofuscinosis 4 Parry type neuronal ceroid lipofuscinosis 4B disease_ontology DOID:0110720 neuronal ceroid lipofuscinosis 4 DOID:0110720 A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inheritance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene on chromosome 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/21820099 url:https://www.ncbi.nlm.nih.gov/pubmed/22073189 A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. GARD:1219 ICD10CM:E75.4 MIM:256730 ORDO:228329 CLN1 neuronal ceroid lipofuscinosis 1 variable age of onset disease_ontology DOID:0110721 neuronal ceroid lipofuscinosis 1 DOID:0110721 A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. url:https://www.ncbi.nlm.nih.gov/pubmed/7637805 CLN1 A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28. GARD:1220 ICD10CM:E75.4 MIM:610951 ORDO:228366 CLN7 disease_ontology DOID:0110722 neuronal ceroid lipofuscinosis 7 DOID:0110722 A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28. url:https://www.ncbi.nlm.nih.gov/pubmed/17564970 CLN7 A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23. ICD10CM:E75.4 MIM:600143 ORDO:228354 CLN8 disease_ontology DOID:0110723 neuronal ceroid lipofuscinosis 8 DOID:0110723 A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23. url:https://www.ncbi.nlm.nih.gov/pubmed/15024724 url:https://www.ncbi.nlm.nih.gov/pubmed/15074367 url:https://www.ncbi.nlm.nih.gov/pubmed/15965709 CLN8 A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. GARD:2163 GARD:4010 ICD10CM:E75.4 MIM:610003 ORDO:1947 EPMR northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant progressive epilepsy with mental retardation, northern epilepsy progressive epilepsy-intellectual disability syndrome, Finnish type disease_ontology DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant DOID:0110724 A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. url:https://www.ncbi.nlm.nih.gov/pubmed/8014963 url:https://www.ncbi.nlm.nih.gov/pubmed/8743986 EPMR A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15. GARD:1218 ICD10CM:E75.4 MIM:610127 ORDO:228337 CLN10 Cathepsin D deficiency neuronal ceroid lipofuscinosis cathepsin D-deficient neuronal ceroid lipofuscinosis due to cathepsin D deficiency disease_ontology DOID:0110725 neuronal ceroid lipofuscinosis 10 DOID:0110725 A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/16685649 CLN10 A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15. GARD:3045 ICD10CM:E75.4 MIM:204500 ORDO:228349 CLN2 neuronal ceroid lipofuscinosis 2 variable age at onset disease_ontology DOID:0110726 neuronal ceroid lipofuscinosis 2 DOID:0110726 A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/15965709 url:https://www.ncbi.nlm.nih.gov/pubmed/18684116 CLN2 A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13. ICD10CM:E75.4 MIM:615362 ORDO:352709 CLN13 neuronal ceroid lipofuscinosis 13 Kufs type disease_ontology DOID:0110727 neuronal ceroid lipofuscinosis 13 DOID:0110727 A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/23297359 CLN13 A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. GARD:1223 ICD10CM:E75.4 MIM:256731 ORDO:228360 CLN5 neuronal ceroid lipofuscinosis 5 variable age of onset disease_ontology DOID:0110728 neuronal ceroid lipofuscinosis 5 DOID:0110728 A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. url:https://www.ncbi.nlm.nih.gov/pubmed/15965709 url:https://www.ncbi.nlm.nih.gov/pubmed/9662406 CLN5 A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. GARD:1224 ICD10CM:E75.4 MIM:601780 ORDO:228363 CLN6 neuronal ceroid lipofuscinosis 6 neuronal ceroid lipofuscinosis 6 variable age of onset disease_ontology DOID:0110729 neuronal ceroid lipofuscinosis 6A DOID:0110729 A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. url:https://www.ncbi.nlm.nih.gov/pubmed/15965709 url:https://www.ncbi.nlm.nih.gov/pubmed/15996215 CLN6 A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. ICD10CM:E75.4 MIM:204300 ORDO:228340 CLN4A autosomal recessive neuronal ceroid lipofuscinosis 4A neuronal ceroid lipofuscinosis 4A disease_ontology DOID:0110730 neuronal ceroid lipofuscinosis 6B DOID:0110730 A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. url:https://www.ncbi.nlm.nih.gov/pubmed/15965709 url:https://www.ncbi.nlm.nih.gov/pubmed/21549341 CLN4A A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. DOID:0050756 GARD:5897 ICD10CM:E75.4 MIM:204200 ORDO:228346 Batten disease CLN3 juvenile neuronal ceroid lipofuscinosis disease_ontology DOID:0110731 neuronal ceroid lipofuscinosis 3 DOID:0110731 A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. url:https://ghr.nlm.nih.gov/condition/cln3-disease url:https://www.ncbi.nlm.nih.gov/pubmed/15965709 url:https://www.ncbi.nlm.nih.gov/pubmed/7553855 CLN3 A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. ICD10CM:E75.4 MIM:614706 ORDO:314629 CLN11 disease_ontology DOID:0110732 neuronal ceroid lipofuscinosis 11 DOID:0110732 A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. url:https://www.ncbi.nlm.nih.gov/pubmed/22608501 CLN11 A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seizures. GARD:6618 ICD10CM:E75.4 MIM:609055 ORDO:228357 CLN9 disease_ontology DOID:0110733 neuronal ceroid lipofuscinosis 9 DOID:0110733 A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seizures. url:https://www.ncbi.nlm.nih.gov/pubmed/15349861 CLN9 A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. GARD:11899 MESH:C538421 MIM:PS234200 ORDO:385 UMLS_CUI:C2931845 NBIA disease_ontology DOID:0110734 neurodegeneration with brain iron accumulation DOID:0110734 A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. url:https://rarediseases.info.nih.gov/diseases/11899/index url:https://www.ncbi.nlm.nih.gov/pubmed/18981035 url:https://www.ninds.nih.gov/health-information/disorders/neurodegeneration-brain-iron-accumulation NBIA A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life. GARD:2751 ICD10CM:G23.0 MIM:256600 INAD1 Infantile Neuroaxonal Dystrophy 1 NBIA2a Neurodegeneration, Pla2g6-Associated Seitelberger Disease disease_ontology DOID:0110735 neurodegeneration with brain iron accumulation 2a DOID:0110735 A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life. url:https://www.ncbi.nlm.nih.gov/pubmed/18443314 INAD1 NBIA2a A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1. ICD10CM:G23.0 MIM:610217 NBIA2b Neuroaxonal Dystrophy, Atypical Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related disease_ontology DOID:0110736 neurodegeneration with brain iron accumulation 2b DOID:0110736 A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/18799783 NBIA2b A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. MESH:C548080 MIM:606159 ORDO:157846 SNOMEDCT_US_2023_03_01:699299001 UMLS_CUI:C1853578 Adult basal ganglia disease Ferritin-related neurodegeneration Hereditary ferritinopathy NBIA3 Neuroferritinopathy Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset disease_ontology DOID:0110737 neurodegeneration with brain iron accumulation 3 DOID:0110737 A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. url:https://www.ncbi.nlm.nih.gov/pubmed/16116125 NBIA3 A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12. ICD10CM:G23.0 MIM:614298 ORDO:289560 MPAN Mitochondrial Protein-Associated Neurodegeneration NBIA due to C19orf12 mutation NBIA4 Neurodegeneration with brain iron accumulation due to C19orf12 mutation Neurodegeneration with brain iron accumulation type 4 disease_ontology DOID:0110738 neurodegeneration with brain iron accumulation 4 DOID:0110738 A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12. url:https://www.ncbi.nlm.nih.gov/pubmed/23269600 MPAN NBIA4 A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23. ICD10CM:G23.0 MIM:300894 ORDO:329284 BPAN Beta-Propeller Protein-Associated Neurodegeneration NBIA5 SENDA Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood disease_ontology DOID:0110739 neurodegeneration with brain iron accumulation 5 DOID:0110739 A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/23176820 BPAN NBIA5 SENDA A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2. ICD10CM:G23.0 MIM:615643 ORDO:397725 COASY protein-associated neurodegeneration CoPAN NBIA6 Neurodegeneration with brain iron accumulation due to COASY mutation disease_ontology DOID:0110740 neurodegeneration with brain iron accumulation 6 DOID:0110740 A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/24360804 CoPAN NBIA6 A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5. ICD10CM:E10 MIM:125852 IDDM2 Insulin-Dependent Diabetes Mellitus 2 disease_ontology DOID:0110741 type 1 diabetes mellitus 2 DOID:0110741 A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5. url:https://www.ncbi.nlm.nih.gov/pubmed/6363172 IDDM2 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26. ICD10CM:E10 MIM:600318 IDDM3 Insulin-Dependent Diabetes Mellitus 3 disease_ontology DOID:0110742 type 1 diabetes mellitus 3 DOID:0110742 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26. url:https://www.ncbi.nlm.nih.gov/pubmed/7842018 IDDM3 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13. ICD10CM:E10 MIM:600319 IDDM4 Insulin-Dependent Diabetes Mellitus 4 disease_ontology DOID:0110743 type 1 diabetes mellitus 4 DOID:0110743 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/9683605 IDDM4 A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1. ICD10CM:E10 MIM:600320 IDDM5 Insulin-Dependent Diabetes Mellitus 5 disease_ontology DOID:0110744 type 1 diabetes mellitus 5 DOID:0110744 A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15247916 IDDM5 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21. ICD10CM:E10 MIM:601941 IDDM6 Insulin-Dependent Diabetes Mellitus 6 disease_ontology DOID:0110745 type 1 diabetes mellitus 6 DOID:0110745 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21. url:https://www.ncbi.nlm.nih.gov/pubmed/9215667 IDDM6 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31. ICD10CM:E10 MIM:600321 IDDM7 Insulin-Dependent Diabetes Mellitus 7 disease_ontology DOID:0110746 type 1 diabetes mellitus 7 DOID:0110746 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/7704030 IDDM7 A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27. ICD10CM:E10 MIM:600883 IDDM8 Insulin-Dependent Diabetes Mellitus 8 disease_ontology DOID:0110747 type 1 diabetes mellitus 8 DOID:0110747 A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27. url:https://www.ncbi.nlm.nih.gov/pubmed/7573053 IDDM8 ICD10CM:E10 IDDM9 Insulin-Dependent Diabetes Mellitus 9 disease_ontology DOID:0110748 not in OMIM, missed that I shouldn't have added this one - Sue obsolete type 1 diabetes mellitus 9 true DOID:0110748 A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1. ICD10CM:E10 MIM:601942 IDDM10 Insulin-Dependent Diabetes Mellitus 10 disease_ontology DOID:0110749 type 1 diabetes mellitus 10 DOID:0110749 A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1. url:https://www.ncbi.nlm.nih.gov/pubmed/8072542 IDDM10 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31. ICD10CM:E10 MIM:601208 IDDM11 Insulin-Dependent Diabetes Mellitus 11 disease_ontology DOID:0110750 type 1 diabetes mellitus 11 DOID:0110750 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31. url:https://www.ncbi.nlm.nih.gov/pubmed/8617492 IDDM11 A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2. ICD10CM:E10 MIM:601388 IDDM12 Insulin-Dependent Diabetes Mellitus 12 disease_ontology DOID:0110751 type 1 diabetes mellitus 12 DOID:0110751 A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2. url:https://www.ncbi.nlm.nih.gov/pubmed/8817351 IDDM12 A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34. ICD10CM:E10 MIM:601318 IDDM13 Insulin-Dependent Diabetes Mellitus 13 disease_ontology DOID:0110752 type 1 diabetes mellitus 13 DOID:0110752 A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34. url:https://www.ncbi.nlm.nih.gov/pubmed/8650584 IDDM13 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21. ICD10CM:E10 MIM:601666 IDDM15 Insulin-Dependent Diabetes Mellitus 15 disease_ontology DOID:0110753 type 1 diabetes mellitus 15 DOID:0110753 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21. url:https://www.ncbi.nlm.nih.gov/pubmed/8981961 IDDM15 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25. ICD10CM:E10 MIM:603266 IDDM17 Insulin-Dependent Diabetes Mellitus 17 disease_ontology DOID:0110754 type 1 diabetes mellitus 17 DOID:0110754 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25. url:https://www.ncbi.nlm.nih.gov/pubmed/9788970 IDDM17 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1. ICD10CM:E10 MIM:605598 IDDM18 Insulin-Dependent Diabetes Mellitus 18 disease_ontology DOID:0110755 type 1 diabetes mellitus 18 DOID:0110755 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11175794 IDDM18 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3. ICD10CM:E10 MIM:610155 IDDM19 Insulin-Dependent Diabetes Mellitus 19 disease_ontology DOID:0110756 type 1 diabetes mellitus 19 DOID:0110756 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/16699517 IDDM19 A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31. ICD10CM:E10 MIM:612520 IDDM20 Insulin-Dependent Diabetes Mellitus 20 disease_ontology DOID:0110757 type 1 diabetes mellitus 20 DOID:0110757 A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31. url:https://www.ncbi.nlm.nih.gov/pubmed/9313763 IDDM20 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25. ICD10CM:E10 MIM:612521 IDDM21 Insulin-Dependent Diabetes Mellitus 21 disease_ontology DOID:0110758 type 1 diabetes mellitus 21 DOID:0110758 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25. url:https://www.ncbi.nlm.nih.gov/pubmed/19073967 IDDM21 A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31. ICD10CM:E10 MIM:612522 IDDM22 Insulin-Dependent Diabetes Mellitus 22 disease_ontology DOID:0110759 type 1 diabetes mellitus 22 DOID:0110759 A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/19073967 IDDM22 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27. ICD10CM:E10 MIM:612622 IDDM23 Insulin-Dependent Diabetes Mellitus 23 disease_ontology DOID:0110760 type 1 diabetes mellitus 23 DOID:0110760 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27. url:https://www.ncbi.nlm.nih.gov/pubmed/8072542 IDDM23 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31. ICD10CM:E10 MIM:613006 IDDM24 Insulin-Dependent Diabetes Mellitus 24 disease_ontology DOID:0110761 type 1 diabetes mellitus 24 DOID:0110761 A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31. url:https://www.ncbi.nlm.nih.gov/pubmed/19430480 IDDM24 disease_ontology DOID:0110762 obsolete hereditary spastic paraplegia 1 true DOID:0110762 A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13. GARD:9590 ICD10CM:G11.4 MIM:604187 ORDO:100991 SPG10 autosomal dominant spastic paraplegia 10 autosomal dominant spastic paraplegia type 10 disease_ontology DOID:0110763 hereditary spastic paraplegia 10 DOID:0110763 A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/12355402 SPG10 A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. GARD:4919 ICD10CM:G11.4 MIM:604360 ORDO:2822 HSP-TCC Nakamura-Osame syndrome SPG11 autosomal recessive spastic paraplegia 11 autosomal recessive spastic paraplegia complicated with thin corpus callosum autosomal recessive spastic paraplegia type 11 autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum spastic paraplegia-intellectual disability-thin corpus callosum syndrome disease_ontology DOID:0110764 hereditary spastic paraplegia 11 DOID:0110764 A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. url:https://www.ncbi.nlm.nih.gov/pubmed/17322883 HSP-TCC SPG11 A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13. GARD:9586 ICD10CM:G11.4 MIM:604805 ORDO:100993 SPG12 autosomal dominant spastic paraplegia 12 autosomal dominant spastic paraplegia type 12 disease_ontology DOID:0110765 hereditary spastic paraplegia 12 DOID:0110765 A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/22232211 SPG12 A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 gene on chromosome 2q33. GARD:9616 ICD10CM:G11.4 MIM:605280 ORDO:100994 SPG13 autosomal dominant spastic paraplegia 13 disease_ontology DOID:0110766 hereditary spastic paraplegia 13 DOID:0110766 A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 gene on chromosome 2q33. url:https://www.ncbi.nlm.nih.gov/pubmed/11898127 SPG13 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28. GARD:9589 ICD10CM:G11.4 MIM:605229 ORDO:100995 SPG14 autosomal recessive spastic paraplegia 14 autosomal recessive spastic paraplegia type 14 disease_ontology DOID:0110767 hereditary spastic paraplegia 14 DOID:0110767 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28. url:https://www.ncbi.nlm.nih.gov/pubmed/10877981 SPG14 A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1. GARD:9581 ICD10CM:G11.4 MIM:270700 ORDO:100996 Kjellin syndrome SPG15 autosomal recessive spastic paraplegia 15 autosomal recessive spastic paraplegia type 15 hereditary spastic paraparesis type 15 spastic paraplegia and retinal degeneration spastic paraplegia-retinal degeneration syndrome disease_ontology DOID:0110768 hereditary spastic paraplegia 15 DOID:0110768 A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1. url:https://www.ncbi.nlm.nih.gov/pubmed/18394578 SPG15 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2. GARD:9585 ICD10CM:G11.4 MIM:300266 ORDO:100997 SPG16 X-linked spastic paraplegia 16 X-linked spastic paraplegia type 16 disease_ontology DOID:0110769 hereditary spastic paraplegia 16 DOID:0110769 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/9254866 SPG16 A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. GARD:4219 ICD10CM:G11.4 MIM:270685 ORDO:100998 SPG17 Silver spastic paraplegia syndrome Silver syndrome autosomal dominant spastic paraplegia 17 autosomal dominant spastic paraplegia type 17 dHMN5B distal hereditary motor neuropathy type 5B spastic paraplegia with amyotrophy of hands and feet spastic paraplegia-amyotrophy of hands and feet disease_ontology DOID:0110770 hereditary spastic paraplegia 17 DOID:0110770 A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. url:https://www.ncbi.nlm.nih.gov/pubmed/14981520 SPG17 dHMN5B A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11. GARD:4922 ICD10CM:G11.4 MIM:611225 ORDO:209951 IDMDC SPG18 autosomal recessive spastic paraplegia 18 autosomal recessive spastic paraplegia type 18 intellectual disability, motor dysfunction and joint contractures disease_ontology DOID:0110771 hereditary spastic paraplegia 18 DOID:0110771 A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11. url:https://www.ncbi.nlm.nih.gov/pubmed/21330303 IDMDC SPG18 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q. GARD:9588 ICD10CM:G11.4 MIM:607152 ORDO:100999 SPG19 autosomal dominant spastic paraplegia 19 autosomal dominant spastic paraplegia type 19 disease_ontology DOID:0110772 hereditary spastic paraplegia 19 DOID:0110772 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q. url:https://www.ncbi.nlm.nih.gov/pubmed/12112072 SPG19 A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2. GARD:4923 ICD10CM:G11.4 MIM:312920 ORDO:99015 SPG2 X-linked spastic paraplegia 2 spastic paraplegia type 2 disease_ontology DOID:0110773 hereditary spastic paraplegia 2 DOID:0110773 A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/8012387 SPG2 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32. GARD:336 ICD10CM:G11.4 MIM:270750 ORDO:101003 Lison syndrome SPG23 Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome spastic paraplegia 23 spastic paraplegia with pigmentary abnormalities disease_ontology DOID:0110774 hereditary spastic paraplegia 23 DOID:0110774 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32. url:https://www.ncbi.nlm.nih.gov/pubmed/14681889 SPG23 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14. GARD:9296 ICD10CM:G11.4 MIM:607584 ORDO:101004 SPG24 autosomal recessive spastic paraplegia 24 autosomal recessive spastic paraplegia type 24 disease_ontology DOID:0110775 hereditary spastic paraplegia 24 DOID:0110775 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14. url:https://www.ncbi.nlm.nih.gov/pubmed/12499481 SPG24 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1. GARD:9582 ICD10CM:G11.4 MIM:608220 ORDO:101005 SPG25 autosomal recessive spastic paraplegia 25 autosomal recessive spastic paraplegia type 25 disease_ontology DOID:0110776 hereditary spastic paraplegia 25 DOID:0110776 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1. url:https://www.ncbi.nlm.nih.gov/pubmed/12070243 SPG25 A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13. GARD:9587 ICD10CM:G11.4 MIM:609195 ORDO:101006 GM2 synthase deficiency SPG26 autosomal recessive spastic paraplegia 26 autosomal recessive spastic paraplegia type 26 disease_ontology DOID:0110777 hereditary spastic paraplegia 26 DOID:0110777 A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13. url:https://www.ncbi.nlm.nih.gov/pubmed/23746551 SPG26 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1. ICD10CM:G11.4 MIM:609041 ORDO:101007 SPG27 autosomal recessive spastic paraplegia 27 autosomal recessive spastic paraplegia type 27 disease_ontology DOID:0110778 hereditary spastic paraplegia 27 DOID:0110778 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15455396 SPG27 A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22. ICD10CM:G11.4 MIM:609340 ORDO:101008 SPG28 autosomal recessive spastic paraplegia 28 autosomal recessive spastic paraplegia type 28 disease_ontology DOID:0110779 hereditary spastic paraplegia 28 DOID:0110779 A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22. url:https://www.ncbi.nlm.nih.gov/pubmed/23176821 SPG28 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1. GARD:9729 ICD10CM:G11.4 MIM:609727 ORDO:101009 SPG29 autosomal dominant spastic paraplegia 29 disease_ontology DOID:0110780 hereditary spastic paraplegia 29 DOID:0110780 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16130112 SPG29 A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. ICD10CM:G11.4 MIM:610357 ORDO:101010 SPG30 autosomal spastic paraplegia type 30 autosomal dominant spastic paraplegia 30 autosomal recessive spastic paraplegia 30 disease_ontology DOID:0110781 hereditary spastic paraplegia 30 DOID:0110781 A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. url:https://pubmed.ncbi.nlm.nih.gov/31488895/ url:https://www.ncbi.nlm.nih.gov/pubmed/21487076 SPG30 A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11. GARD:10817 ICD10CM:G11.4 MIM:610250 ORDO:101011 SPG31 autosomal dominant spastic paraplegia 31 autosomal dominant spastic paraplegia type 31 disease_ontology DOID:0110782 hereditary spastic paraplegia 31 DOID:0110782 A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11. url:https://www.ncbi.nlm.nih.gov/pubmed/16826527 SPG31 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21. GARD:12749 ICD10CM:G11.4 MIM:611252 ORDO:171622 SPG32 autosomal recessive spastic paraplegia 32 autosomal recessive spastic paraplegia type 32 disease_ontology DOID:0110783 hereditary spastic paraplegia 32 DOID:0110783 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21. url:https://www.ncbi.nlm.nih.gov/pubmed/17515546 SPG32 A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24. MIM:610244 SPG33 autosomal dominant spastic paraplegia 33 disease_ontology DOID:0110784 hereditary spastic paraplegia 33 DOID:0110784 A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/16826525 SPG33 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25. ICD10CM:G11.4 MIM:300750 ORDO:171607 SPG34 X-linked spastic paraplegia 34 X-linked spastic paraplegia type 34 disease_ontology DOID:0110785 hereditary spastic paraplegia 34 DOID:0110785 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25. url:https://www.ncbi.nlm.nih.gov/pubmed/12210342 SPG34 A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1. ICD10CM:G11.4 MIM:612319 ORDO:171629 FAHN SPG35 autosomal recessive spastic paraplegia 35 autosomal recessive spastic paraplegia type 35 fatty acid hydroxylase-associated neurodegeneration leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia disease_ontology DOID:0110786 hereditary spastic paraplegia 35 DOID:0110786 A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1. url:https://www.ncbi.nlm.nih.gov/pubmed/19068277 FAHN SPG35 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24. ICD10CM:G11.4 MIM:613096 ORDO:320365 SPG36 autosomal dominant spastic paraplegia 36 autosomal dominant spastic paraplegia type 36 disease_ontology DOID:0110787 hereditary spastic paraplegia 36 DOID:0110787 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24. url:https://www.ncbi.nlm.nih.gov/pubmed/19357379 SPG36 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3. ICD10CM:G11.4 MIM:611945 ORDO:171612 SPG37 autosomal dominant spastic paraplegia 37 autosomal dominant spastic paraplegia type 37 disease_ontology DOID:0110788 hereditary spastic paraplegia 37 DOID:0110788 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17605047 SPG37 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15. ICD10CM:G11.4 MIM:612335 ORDO:171617 SPG38 autosomal dominant spastic paraplegia 38 autosomal dominant spastic paraplegia type 38 disease_ontology DOID:0110789 hereditary spastic paraplegia 38 DOID:0110789 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15. url:https://www.ncbi.nlm.nih.gov/pubmed/18401025 SPG38 A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. GARD:4924 ICD10CM:G11.4 MIM:612020 ORDO:139480 NTE-related motor neuron disorder NTEMND SPG39 autosomal recessive spastic paraplegia 39 autosomal recessive spastic paraplegia type 39 spastic paraplegia due to NTE mutation spastic paraplegia due to neuropathy target esterase mutation disease_ontology DOID:0110790 hereditary spastic paraplegia 39 DOID:0110790 A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/18313024 NTEMND SPG39 A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22. GARD:5041 ICD10CM:G11.4 MIM:182600 ORDO:100984 FSP1 SPG3A autosomal dominant familial spastic paraplegia 1 autosomal dominant spastic paraplegia 3 autosomal dominant spastic paraplegia type 3 strumpell disease disease_ontology DOID:0110791 hereditary spastic paraplegia 3A DOID:0110791 A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22. url:https://www.ncbi.nlm.nih.gov/pubmed/11685207 FSP1 SPG3A A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22. ICD10CM:G11.4 MIM:182601 ORDO:100985 SPG4 autosomal dominant spastic paraplegia 4 autosomal dominant spastic paraplegia type 4 disease_ontology DOID:0110792 hereditary spastic paraplegia 4 DOID:0110792 A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22. url:https://www.ncbi.nlm.nih.gov/pubmed/9302257 SPG4 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2. ICD10CM:G11.4 MIM:613364 ORDO:320355 SPG41 autosomal dominant spastic paraplegia 41 autosomal dominant spastic paraplegia type 41 disease_ontology DOID:0110793 hereditary spastic paraplegia 41 DOID:0110793 A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/18364116 SPG41 A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31. ICD10CM:G11.4 MIM:612539 ORDO:171863 SPG42 autosomal dominant spastic paraplegia 42 autosomal dominant spastic paraplegia type 42 disease_ontology DOID:0110794 hereditary spastic paraplegia 42 DOID:0110794 A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31. url:https://www.ncbi.nlm.nih.gov/pubmed/19061983 SPG42 A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12. ICD10CM:G11.4 MIM:615043 ORDO:320370 SPG43 autosomal recessive spastic paraplegia 43 autosomal recessive spastic paraplegia type 43 disease_ontology DOID:0110795 hereditary spastic paraplegia 43 DOID:0110795 A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12. url:https://www.ncbi.nlm.nih.gov/pubmed/23857908 SPG43 A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. ICD10CM:G11.4 MIM:613206 ORDO:320401 SPG44 autosomal recessive spastic paraplegia 44 disease_ontology DOID:0110796 hereditary spastic paraplegia 44 DOID:0110796 A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/19056803 SPG44 A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24. ICD10CM:G11.4 MIM:613162 ORDO:320396 SPG45 SPG65 autosomal recessive spastic paraplegia 45 autosomal recessive spastic paraplegia type 45 autosomal recessive spastic paraplegia type 65 disease_ontology DOID:0110797 hereditary spastic paraplegia 45 DOID:0110797 A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/24482476 SPG45 SPG65 A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p. ICD10CM:G11.4 MIM:614409 ORDO:320391 SPG46 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46 disease_ontology DOID:0110798 hereditary spastic paraplegia 46 DOID:0110798 A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p. url:https://www.ncbi.nlm.nih.gov/pubmed/23332916 SPG46 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13. MIM:614066 ORDO:280763 CPSQ5 SPG47 autosomal recessive spastic paraplegia 47 spastic quadriplegic cerebral palsy 5 disease_ontology DOID:0110799 hereditary spastic paraplegia 47 DOID:0110799 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13. url:https://www.ncbi.nlm.nih.gov/pubmed/21620353 url:https://www.ncbi.nlm.nih.gov/pubmed/22290197 CPSQ5 SPG47 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1. ICD10CM:G11.4 MIM:613647 ORDO:306511 SPG48 autosomal recessive spastic paraplegia 48 autosomal recessive spastic paraplegia type 48 disease_ontology DOID:0110800 hereditary spastic paraplegia 48 DOID:0110800 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/20613862 SPG48 A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32. ICD10CM:G11.4 MIM:615031 ORDO:320385 SPG49 autosomal recessive spastic paraplegia 49 autosomal recessive spastic paraplegia type 49 disease_ontology DOID:0110801 hereditary spastic paraplegia 49 DOID:0110801 A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/23176824 SPG49 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. MIM:612936 ORDO:280763 AP-4 deficiency syndrome AP-4-Associated Hereditary Spastic Paraplegia SPG50 adaptor protein complex 4 deficiency autosomal recessive spastic paraplegia 50 disease_ontology DOID:0110802 hereditary spastic paraplegia 50 DOID:0110802 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. url:https://www.ncbi.nlm.nih.gov/books/NBK535153/ url:https://www.ncbi.nlm.nih.gov/pubmed/19559397 SPG50 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21. GARD:10999 MIM:613744 ORDO:280763 CPSQ4 SPG51 autosomal dominant spastic paraplegia 51 spastic quadriplegic cerebral palsy 4 disease_ontology DOID:0110803 hereditary spastic paraplegia 51 DOID:0110803 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21. url:https://www.ncbi.nlm.nih.gov/pubmed/20972249 url:https://www.ncbi.nlm.nih.gov/pubmed/21620353 CPSQ4 SPG51 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. MIM:614067 ORDO:280763 CPSQ6 SPG52 autosomal recessive spastic paraplegia 52 spastic quadriplegic cerebral palsy 6 disease_ontology DOID:0110804 hereditary spastic paraplegia 52 DOID:0110804 A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. url:https://www.ncbi.nlm.nih.gov/pubmed/21620353 CPSQ6 SPG52 A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22. ICD10CM:G11.4 MIM:614898 ORDO:319199 SPG53 autosomal recessive spastic paraplegia 53 autosomal recessive spastic paraplegia type 53 disease_ontology DOID:0110805 hereditary spastic paraplegia 53 DOID:0110805 A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22. url:https://www.ncbi.nlm.nih.gov/pubmed/22717650 SPG53 A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11. ICD10CM:G11.4 MIM:615033 ORDO:320380 SPG54 autosomal recessive spastic paraplegia 54 autosomal recessive spastic paraplegia type 54 disease_ontology DOID:0110806 hereditary spastic paraplegia 54 DOID:0110806 A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11. url:https://www.ncbi.nlm.nih.gov/pubmed/23176823 SPG54 A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24. ICD10CM:G11.4 MIM:615035 ORDO:320375 SPG55 autosomal recessive spastic paraplegia 55 autosomal recessive spastic paraplegia type 55 disease_ontology DOID:0110807 hereditary spastic paraplegia 55 DOID:0110807 A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/23188110 SPG55 A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25. ICD10CM:G11.4 MIM:615030 ORDO:320411 SPG56 autosomal recessive spastic paraplegia 56 autosomal recessive spastic paraplegia type 56 disease_ontology DOID:0110808 hereditary spastic paraplegia 56 DOID:0110808 A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25. url:https://www.ncbi.nlm.nih.gov/pubmed/23176821 SPG56 A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12. ICD10CM:G11.4 MIM:615658 ORDO:431329 SPG57 autosomal recessive spastic paraplegia 57 autosomal recessive spastic paraplegia type 57 disease_ontology DOID:0110809 hereditary spastic paraplegia 57 DOID:0110809 A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12. url:https://www.ncbi.nlm.nih.gov/pubmed/23479643 SPG57 A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. GARD:4926 ICD10CM:G11.4 MIM:270800 ORDO:100986 SPG5A autosomal recessive spastic paraplegia 5A autosomal recessive spastic paraplegia type 5A disease_ontology DOID:0110810 hereditary spastic paraplegia 5A DOID:0110810 A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. url:https://www.ncbi.nlm.nih.gov/pubmed/18252231 SPG5A A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2. ICD10CM:G11.4 MIM:600363 ORDO:100988 FSP3 SPG6 autosomal dominant familial spastic paraplegia type 3 autosomal dominant spastic paraplegia 6 autosomal dominant spastic paraplegia type 6 disease_ontology DOID:0110811 hereditary spastic paraplegia 6 DOID:0110811 A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/14508710 FSP3 SPG6 A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12. ICD10CM:G11.4 MIM:615685 ORDO:401780 SPG61 autosomal recessive spastic paraplegia 61 autosomal recessive spastic paraplegia type 61 disease_ontology DOID:0110812 hereditary spastic paraplegia 61 DOID:0110812 A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12. url:https://www.ncbi.nlm.nih.gov/pubmed/24482476 SPG61 A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24. ICD10CM:G11.4 MIM:615681 ORDO:401785 SPG62 autosomal recessive spastic paraplegia 62 autosomal recessive spastic paraplegia type 62 disease_ontology DOID:0110813 hereditary spastic paraplegia 62 DOID:0110813 A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/24482476 SPG62 A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13. ICD10CM:G11.4 MIM:615686 ORDO:401805 SPG63 autosomal recessive spastic paraplegia 63 spastic paraplegia 63 disease_ontology DOID:0110814 hereditary spastic paraplegia 63 DOID:0110814 A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13. url:https://www.ncbi.nlm.nih.gov/pubmed/24482476 SPG63 A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24. ICD10CM:G11.4 MIM:615683 ORDO:401810 SPG64 autosomal recessive spastic paraplegia 64 autosomal recessive spastic paraplegia type 64 disease_ontology DOID:0110815 hereditary spastic paraplegia 64 DOID:0110815 A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/24482476 SPG64 A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24. ICD10CM:G11.4 MIM:607259 ORDO:99013 SPG7 autosomal recessive spastic paraplegia 7 spastic paraplegia type 7 disease_ontology DOID:0110816 hereditary spastic paraplegia 7 DOID:0110816 A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24. url:https://www.ncbi.nlm.nih.gov/pubmed/9635427 SPG7 A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2. ICD10CM:G11.4 MIM:615625 ORDO:401849 SPG72 autosomal spastic paraplegia type 72 disease_ontology DOID:0110817 hereditary spastic paraplegia 72A DOID:0110817 A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2. url:https://www.ncbi.nlm.nih.gov/pubmed/24388663 SPG72 A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13. ICD10CM:G11.4 MIM:616282 ORDO:444099 SPG73 autosomal dominant spastic paraplegia 73 autosomal dominant spastic paraplegia type 73 disease_ontology DOID:0110818 hereditary spastic paraplegia 73 DOID:0110818 A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/25751282 SPG73 A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42. MIM:616451 ORDO:468661 SPG74 autosomal recessive spastic paraplegia 74 disease_ontology DOID:0110819 hereditary spastic paraplegia 74 DOID:0110819 A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/25609768 SPG74 A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13. ICD10CM:G11.4 MIM:616680 ORDO:459056 SPG75 autosomal recessive spastic paraplegia 75 autosomal recessive spastic paraplegia type 75 disease_ontology DOID:0110820 hereditary spastic paraplegia 75 DOID:0110820 A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/24482476 SPG75 A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13. MIM:616907 SPG76 autosomal recessive spastic paraplegia 76 disease_ontology DOID:0110821 hereditary spastic paraplegia 76 DOID:0110821 A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/27153400 SPG76 A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25. ICD10CM:G11.4 MIM:617046 ORDO:466722 SPG77 autosomal recessive spastic paraplegia 77 disease_ontology DOID:0110822 hereditary spastic paraplegia 77 DOID:0110822 A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25. url:https://www.ncbi.nlm.nih.gov/pubmed/26553276 SPG77 A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24. GARD:9591 ICD10CM:G11.4 MIM:603563 ORDO:100989 SPG8 autosomal dominant spastic paraplegia 8 autosomal dominant spastic paraplegia type 8 disease_ontology DOID:0110823 hereditary spastic paraplegia 8 DOID:0110823 A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24. url:https://www.ncbi.nlm.nih.gov/pubmed/17160902 SPG8 A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. ICD10CM:G11.4 MIM:601162 ORDO:100990 ORDO:447753 AD-SPG9A Cataracts motor neuropathy-short stature-skeletal anomalies syndrome SPG9A autosomal dominant complex spastic paraplegia type 9A autosomal dominant spastic paraplegia 9A cataracts with motor neuronopathy, short stature and skeletal abnormalities spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome disease_ontology DOID:0110824 hereditary spastic paraplegia 9A DOID:0110824 A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/26026163 AD-SPG9A SPG9A A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. ICD10CM:G11.4 MIM:616586 ORDO:447760 SPG9B autosomal recessive complex spastic paraplegia type 9B autosomal recessive spastic paraplegia 9B disease_ontology DOID:0110825 hereditary spastic paraplegia 9B DOID:0110825 A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/26026163 SPG9B An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa. ICD10CM:H35.5 MIM:276900 ORDO:231169 US1 USH1 disease_ontology DOID:0110826 Usher syndrome type 1 DOID:0110826 An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa. url:https://ghr.nlm.nih.gov/condition/usher-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1265/ url:https://www.ncbi.nlm.nih.gov/pubmed/2909824 US1 USH1 An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa. MESH:D052245 NCI:C126328 ORDO:231178 SNOMEDCT_US_2021_09_01:232058008 USH2 disease_ontology DOID:0110827 Usher syndrome type 2 DOID:0110827 An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa. url:https://ghr.nlm.nih.gov/condition/usher-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1341/ url:https://www.ncbi.nlm.nih.gov/pubmed/2909824 url:https://www.ncbi.nlm.nih.gov/pubmed/9624053 USH2 An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life. GARD:5442 MESH:D052245 NCI:C126329 ORDO:231183 USH3 disease_ontology DOID:0110828 Usher syndrome type 3 DOID:0110828 An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life. url:https://ghr.nlm.nih.gov/condition/usher-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/2909824 url:https://www.ncbi.nlm.nih.gov/pubmed/8864816 USH3 An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome. GARD:4684 MESH:D052245 MIM:500004 NCI:C126329 ORDO:231183 SNOMEDCT_US_2023_03_01:1010610007 UMLS_CUI:C1568248 disease_ontology DOID:0110829 Orphanet has this as part of USH3, reference listed refers to symptoms being almost identical to USH3 but inheritance pattern is different. I made this a child of Usher Syndrome but not USH3 - smb. retinitis pigmentosa-deafness syndrome DOID:0110829 An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome. url:https://www.ncbi.nlm.nih.gov/pubmed/10090882 An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15. ICD10CM:H35.5 MIM:276904 USH1C Usher syndrome type I Acadian variety Usher syndrome type IC disease_ontology DOID:0110830 Usher syndrome type 1C DOID:0110830 An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/10973247 USH1C An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22. ICD10CM:H35.5 MIM:601067 USH1D Usher syndrome type ID disease_ontology DOID:0110831 Usher syndrome type 1D DOID:0110831 An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22. url:https://www.ncbi.nlm.nih.gov/pubmed/11138009 USH1D An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q. ICD10CM:H35.5 MIM:602083 USH1F Usher syndrome type IF disease_ontology DOID:0110832 Usher syndrome type 1F DOID:0110832 An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q. url:https://www.ncbi.nlm.nih.gov/pubmed/11398101 USH1F An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21. ICD10CM:H35.5 MIM:602097 USH1E Usher syndrome type IE disease_ontology DOID:0110833 Usher syndrome type 1E DOID:0110833 An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21. url:https://www.ncbi.nlm.nih.gov/pubmed/9002666 USH1E An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25. ICD10CM:H35.5 MIM:606943 USH1G Usher syndrome type IG disease_ontology DOID:0110834 Usher syndrome type 1G DOID:0110834 An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25. url:https://www.ncbi.nlm.nih.gov/pubmed/12588794 USH1G An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23. ICD10CM:H35.5 MIM:612632 USH1H Usher syndrome type IH disease_ontology DOID:0110835 Usher syndrome type 1H DOID:0110835 An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23. url:https://www.ncbi.nlm.nih.gov/pubmed/18505454 USH1H An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24. ICD10CM:H35.5 MIM:614869 USH1J Usher syndrome type IJ disease_ontology DOID:0110836 Usher syndrome type 1J DOID:0110836 An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24. url:https://www.ncbi.nlm.nih.gov/pubmed/23023331 USH1J An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1. ICD10CM:H35.5 MIM:614990 USH1K Usher syndrome type IK disease_ontology DOID:0110837 Usher syndrome type 1K DOID:0110837 An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/22718019 USH1K An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41. GARD:5440 ICD10CM:H35.5 MIM:276901 USH2A Usher syndrome type IIA disease_ontology DOID:0110838 Usher syndrome type 2A DOID:0110838 An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41. url:https://www.ncbi.nlm.nih.gov/pubmed/9624053 USH2A An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. ICD10CM:H35.5 MIM:605472 USH2C Usher syndrome IIC Usher syndrome type IIC disease_ontology DOID:0110839 Usher syndrome type 2C DOID:0110839 An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. url:https://www.ncbi.nlm.nih.gov/pubmed/14740321 USH2C An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32. ICD10CM:H35.5 MIM:611383 USH2D Usher syndrome type IID disease_ontology DOID:0110840 Usher syndrome type 2D DOID:0110840 An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32. url:https://www.ncbi.nlm.nih.gov/pubmed/17171570 USH2D An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25. ICD10CM:H35.5 MIM:276902 USH3A Usher syndrome type IIIA disease_ontology DOID:0110841 Usher syndrome type 3A DOID:0110841 An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25. url:https://www.ncbi.nlm.nih.gov/pubmed/11524702 USH3A An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31. ICD10CM:H35.5 MIM:614504 USH3B Usher syndrome type IIIB disease_ontology DOID:0110842 Usher syndrome type 3B DOID:0110842 An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31. url:https://www.ncbi.nlm.nih.gov/pubmed/22279524 USH3B A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22. ICD10CM:Q82.1 MIM:278700 XP group A XP1 XPA xeroderma pigmentosum 1 xeroderma pigmentosum complementation group A disease_ontology DOID:0110843 xeroderma pigmentosum group A DOID:0110843 A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/2168777 url:https://www.ncbi.nlm.nih.gov/pubmed/2234061 XP1 XPA A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25. ICD10CM:Q82.1 MIM:278720 XP group C XP3 XPC XPCC xeroderma pigmentosum III disease_ontology DOID:0110844 xeroderma pigmentosum group C DOID:0110844 A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25. url:https://www.ncbi.nlm.nih.gov/pubmed/6696469 url:https://www.ncbi.nlm.nih.gov/pubmed/8298653 XP3 XPC XPCC A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13. ICD10CM:Q82.1 MIM:278730 XP group D XP group H XP4 XP8 XPD XPDC XPH xeroderma pigmentosum IV xeroderma pigmentosum VIII disease_ontology DOID:0110845 xeroderma pigmentosum group D DOID:0110845 A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/7849702 XP4 XP8 XPD XPDC XPH A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11. ICD10CM:Q82.1 MIM:278740 XP group E XP5 XPE xeroderma pigmentosum V disease_ontology DOID:0110846 xeroderma pigmentosum group E DOID:0110846 A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11. url:https://www.ncbi.nlm.nih.gov/pubmed/3339259 url:https://www.ncbi.nlm.nih.gov/pubmed/8798680 XP5 XPE A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1. GARD:5630 ICD10CM:Q82.1 MESH:C536766 MIM:278750 XPV photosensitivity with defective DNA synthesis xeroderma pigmentosum with normal DNA repair rates disease_ontology DOID:0110847 xeroderma pigmentosum variant type DOID:0110847 A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/10385124 url:https://www.ncbi.nlm.nih.gov/pubmed/1054497 XPV A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. ICD10CM:Q82.1 MIM:278760 XP group F XP6 XPF xeroderma pigmentosum VI disease_ontology DOID:0110848 xeroderma pigmentosum group F DOID:0110848 A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/23623389 url:https://www.ncbi.nlm.nih.gov/pubmed/8797827 XP6 XPF A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33. ICD10CM:Q82.1 MIM:278780 XP group G XP7 XPG xeroderma pigmentosum VII disease_ontology DOID:0110849 xeroderma pigmentosum group G DOID:0110849 A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33. url:https://www.ncbi.nlm.nih.gov/pubmed/11841555 XP7 XPG A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14. ICD10CM:Q82.1 MIM:610651 XP group B XPB XPBC disease_ontology DOID:0110850 xeroderma pigmentosum group B DOID:0110850 A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14. url:https://www.ncbi.nlm.nih.gov/pubmed/16947863 XPB XPBC A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3. GARD:6049 ICD10CM:Q77.3 MIM:215100 ORDO:309789 PBD9 Peroxisome Biogenesis Disorder 9 RCDP1 disease_ontology DOID:0110851 rhizomelic chondrodysplasia punctata type 1 DOID:0110851 A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15679822 PBD9 RCDP1 A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2. ICD10CM:Q77.3 MESH:C537607 MIM:222765 ORDO:309796 Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency DHAPAT deficiency Dihydroxyacetonephosphate Acyltransferase Deficiency GNPAT deficiency Glyceronephosphate O-Acyltransferase Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency RCDP2 disease_ontology DOID:0110852 rhizomelic chondrodysplasia punctata type 2 DOID:0110852 A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2. url:https://www.ncbi.nlm.nih.gov/pubmed/1405476 RCDP2 A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2. ICD10CM:Q77.3 MESH:C537608 MIM:600121 ORDO:309803 AGPS deficiency Alkyldihydroxyacetonephosphate Synthase Deficiency Alkylglycerone-Phosphate Synthase Deficiency RCDP3 disease_ontology DOID:0110853 rhizomelic chondrodysplasia punctata type 3 DOID:0110853 A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2. url:https://www.ncbi.nlm.nih.gov/pubmed/22871920 RCDP3 A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31. MIM:616716 ORDO:468717 RCDP5 disease_ontology DOID:0110854 rhizomelic chondrodysplasia punctata type 5 DOID:0110854 A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31. url:https://www.ncbi.nlm.nih.gov/pubmed/26220973 RCDP5 A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. ICD10CM:H18.50 MIM:122000 CHED1 Corneal Endothelial Dystrophy 1, Autosomal Dominant Maumenee Corneal Dystrophy PPCD1 disease_ontology DOID:0110855 posterior polymorphous corneal dystrophy 1 DOID:0110855 A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/26749309 CHED1 PPCD1 A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3. ICD10CM:H18.50 MIM:609140 PPCD2 disease_ontology DOID:0110856 posterior polymorphous corneal dystrophy 2 DOID:0110856 A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11689488 PPCD2 A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22. ICD10CM:H18.50 MIM:609141 PPCD3 disease_ontology DOID:0110857 posterior polymorphous corneal dystrophy 3 DOID:0110857 A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22. url:https://www.ncbi.nlm.nih.gov/pubmed/16252232 PPCD3 A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3. MIM:173900 APKD1 PKD1 Polycystic Kidney Disease, Adult, Type I disease_ontology DOID:0110858 polycystic kidney disease 1 DOID:0110858 A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/9650770 APKD1 PKD1 A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1. MIM:613095 APKD2 PKD2 Polycystic Kidney Disease, Adult, Type II disease_ontology DOID:0110859 polycystic kidney disease 2 DOID:0110859 A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/7825585 APKD2 PKD2 A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3. MIM:600666 APKD3 PKD3 Polycystic Kidney Disease, Adult, Type III disease_ontology DOID:0110860 polycystic kidney disease 3 DOID:0110860 A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/27259053 APKD3 PKD3 A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. GARD:8378 ICD10CM:Q61.1 ICD9CM:753.14 MESH:D017044 NCI:C84579 ORDO:731 SNOMEDCT_US_2023_03_01:28770003 UMLS_CUI:C0085548 AR-PKD disease_ontology DOID:0110861 autosomal recessive polycystic kidney disease DOID:0110861 A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. url:https://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease AR-PKD A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1. MIM:610445 CSNBAD1 rhodopsin-related congenital stationary night blindness disease_ontology DOID:0110862 congenital stationary night blindness autosomal dominant 1 DOID:0110862 A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/7846071 CSNBAD1 A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16. MIM:163500 CSNBAD2 Rambusch type congenital stationary night blindness disease_ontology DOID:0110863 congenital stationary night blindness autosomal dominant 2 DOID:0110863 A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16. url:https://www.ncbi.nlm.nih.gov/pubmed/8075643 CSNBAD2 A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25. MIM:615058 CSNB1F congenital stationary night blindness 1F autosomal recessive disease_ontology DOID:0110864 congenital stationary night blindness 1F DOID:0110864 A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25. url:https://www.ncbi.nlm.nih.gov/pubmed/23246293 CSNB1F A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35. MIM:257270 CSNB1B autosomal recessive complete congenital stationary night blindness congenital stationary night blindness 1B autosomal recessive disease_ontology DOID:0110865 congenital stationary night blindness 1B DOID:0110865 A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35. url:https://www.ncbi.nlm.nih.gov/pubmed/15781871 CSNB1B A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13. MIM:617024 CSNB1H congenital stationary night blindness type 1H disease_ontology DOID:0110866 congenital stationary night blindness 1H DOID:0110866 A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/27063057 CSNB1H A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14. MIM:613216 CSNB1C congenital stationary night blindness 1C autosomal recessive disease_ontology DOID:0110867 congenital stationary night blindness 1C DOID:0110867 A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14. url:https://www.ncbi.nlm.nih.gov/pubmed/19878917 CSNB1C A congenital stationary night blindness characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that has_material_basis_in homozygous or compound heterozygous mutation in the SLC24A1 gene on chromosome 15q22. MIM:613830 CSNB1D congenital stationary night blindness 1D autosomal recessive disease_ontology DOID:0110868 congenital stationary night blindness 1D DOID:0110868 A congenital stationary night blindness characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that has_material_basis_in homozygous or compound heterozygous mutation in the SLC24A1 gene on chromosome 15q22. url:https://pubmed.ncbi.nlm.nih.gov/20850105/ url:https://www.ncbi.nlm.nih.gov/pubmed/20850105 CSNB1D A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. MIM:614565 CSNB1E congenital stationary night blindness 1E autosomal recessive disease_ontology DOID:0110869 congenital stationary night blindness 1E DOID:0110869 A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. url:https://www.ncbi.nlm.nih.gov/pubmed/22325361 CSNB1E A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. MIM:310500 CSNB1A NBMI complete CSNB X-linked congenital stationary night blindness 1A X-linked congenital stationary night blindness with myopia hemeralopia-myopia myopia-night blindness disease_ontology DOID:0110870 congenital stationary night blindness 1A DOID:0110870 A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. url:https://www.ncbi.nlm.nih.gov/pubmed/9662400 CSNB1A NBMI A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23. MIM:300071 congenital stationary night blindness 2A X-linked disease_ontology DOID:0110871 congenital stationary night blindness 2A DOID:0110871 A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/9662399 A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. MESH:C563579 MIM:157170 HPE2 disease_ontology DOID:0110872 holoprosencephaly 2 DOID:0110872 A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. url:https://www.ncbi.nlm.nih.gov/pubmed/10369266 HPE2 A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. MESH:C563659 MIM:610829 HPE9 holoprosencephaly with microphthalmia and first branchial arch anomalies pituitary anomalies with holoprosencephaly-like features disease_ontology DOID:0110873 holoprosencephaly 9 DOID:0110873 A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. url:https://www.ncbi.nlm.nih.gov/pubmed/14581620 HPE9 A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3. MESH:C565274 MIM:605934 HPE6 disease_ontology DOID:0110874 holoprosencephaly 6 DOID:0110874 A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11343300 HPE6 A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36. MESH:C564181 MIM:142945 HLP3 HPE3 disease_ontology DOID:0110875 holoprosencephaly 3 DOID:0110875 A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36. url:https://www.ncbi.nlm.nih.gov/pubmed/8896572 HLP3 HPE3 A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. MESH:C563660 MIM:610828 HPE7 disease_ontology DOID:0110876 holoprosencephaly 7 DOID:0110876 A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/11941477 HPE7 A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24. MIM:614226 HPE11 disease_ontology DOID:0110877 holoprosencephaly 11 DOID:0110877 A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21802063 HPE11 A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32. MESH:C566464 MIM:609637 HPE5 disease_ontology DOID:0110878 holoprosencephaly 5 DOID:0110878 A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32. url:https://www.ncbi.nlm.nih.gov/pubmed/9771712 HPE5 A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13. MESH:C563723 MIM:609408 HPE8 disease_ontology DOID:0110879 holoprosencephaly 8 DOID:0110879 A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13. url:https://www.ncbi.nlm.nih.gov/pubmed/15820313 HPE8 A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11. MESH:C564180 MIM:142946 HPE4 disease_ontology DOID:0110880 holoprosencephaly 4 DOID:0110880 A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11. url:https://www.ncbi.nlm.nih.gov/pubmed/10835638 url:https://www.ncbi.nlm.nih.gov/pubmed/16323008 HPE4 A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3. MIM:236100 HPE1 disease_ontology DOID:0110881 holoprosencephaly 1 DOID:0110881 A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/7485157 HPE1 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36. MESH:C565353 MIM:605225 IBD7 disease_ontology DOID:0110882 inflammatory bowel disease 7 DOID:0110882 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/19122664 IBD7 An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3. MESH:C567378 MIM:612261 IBD17 disease_ontology DOID:0110883 inflammatory bowel disease 17 DOID:0110883 An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17068223 IBD17 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1. MESH:C567326 MIM:612381 IBD23 disease_ontology DOID:0110884 inflammatory bowel disease 23 DOID:0110884 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15937090 url:https://www.ncbi.nlm.nih.gov/pubmed/18587394 IBD23 An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37. MESH:C567021 MIM:611081 IBD10 inflammatory bowel disease (Crohn disease) 10 disease_ontology DOID:0110885 inflammatory bowel disease 10 DOID:0110885 An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/18852889 IBD10 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26. MESH:C563926 MIM:608448 IBD9 disease_ontology DOID:0110886 inflammatory bowel disease 9 DOID:0110886 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26. url:https://www.ncbi.nlm.nih.gov/pubmed/12354785 IBD9 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3. MESH:C567388 MIM:612241 IBD12 disease_ontology DOID:0110887 inflammatory bowel disease 12 DOID:0110887 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17804789 IBD12 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1. MESH:C567377 MIM:612262 IBD18 disease_ontology DOID:0110888 inflammatory bowel disease 18 DOID:0110888 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17447842 IBD18 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31. MESH:C565234 MIM:606348 IBD5 disease_ontology DOID:0110889 inflammatory bowel disease 5 DOID:0110889 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31. url:https://www.ncbi.nlm.nih.gov/pubmed/11586304 IBD5 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1. MESH:C567372 MIM:612278 IBD19 inflammatory bowel disease (Crohn disease) 19 disease_ontology DOID:0110890 inflammatory bowel disease 19 DOID:0110890 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17554261 IBD19 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3. MESH:C565764 MIM:604519 IBD3 disease_ontology DOID:0110891 inflammatory bowel disease 3 DOID:0110891 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10577918 IBD3 An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1. MIM:266600 IBD1 disease_ontology DOID:0110892 inflammatory bowel disease 1 DOID:0110892 An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11385576 IBD1 An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1. MESH:C567384 MIM:612244 IBD13 disease_ontology DOID:0110893 inflammatory bowel disease 13 DOID:0110893 An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/14610718 IBD13 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22. MESH:C567154 MIM:191390 IBD11 disease_ontology DOID:0110894 inflammatory bowel disease 11 DOID:0110894 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22. url:https://www.ncbi.nlm.nih.gov/pubmed/8841195 IBD11 An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32. MESH:C567383 MIM:612245 IBD14 disease_ontology DOID:0110895 inflammatory bowel disease 14 DOID:0110895 An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32. url:https://www.ncbi.nlm.nih.gov/pubmed/17881657 IBD14 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32. MESH:C567380 MIM:612259 IBD16 disease_ontology DOID:0110896 inflammatory bowel disease 16 DOID:0110896 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32. url:https://www.ncbi.nlm.nih.gov/pubmed/18587394 IBD16 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21. MESH:C567381 MIM:612255 IBD15 disease_ontology DOID:0110897 inflammatory bowel disease 15 DOID:0110897 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21. url:https://www.ncbi.nlm.nih.gov/pubmed/18438406 IBD15 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24. MESH:C567361 MIM:612288 IBD20 disease_ontology DOID:0110898 inflammatory bowel disease 20 DOID:0110898 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24. url:https://www.ncbi.nlm.nih.gov/pubmed/10053016 IBD20 An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23. MIM:613148 IBD28 early onset autosomal recessive inflammatory bowel disease 28 disease_ontology DOID:0110899 inflammatory bowel disease 28 DOID:0110899 An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23. url:https://www.ncbi.nlm.nih.gov/pubmed/19890111 url:https://www.ncbi.nlm.nih.gov/pubmed/22476154 IBD28 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1. MESH:C563310 MIM:601458 IBD2 disease_ontology DOID:0110900 inflammatory bowel disease 2 DOID:0110900 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1. url:https://www.ncbi.nlm.nih.gov/pubmed/8841195 IBD2 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15. MESH:C567217 MIM:612639 IBD26 disease_ontology DOID:0110901 inflammatory bowel disease 26 DOID:0110901 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15. url:https://www.ncbi.nlm.nih.gov/pubmed/19122664 IBD26 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3. MESH:C567559 MIM:612796 IBD27 disease_ontology DOID:0110902 inflammatory bowel disease 27 DOID:0110902 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/18246054 IBD27 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12. MESH:C564680 MIM:606675 IBD4 disease_ontology DOID:0110903 inflammatory bowel disease 4 DOID:0110903 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12. url:https://www.ncbi.nlm.nih.gov/pubmed/10747815 IBD4 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p. MESH:C564682 MIM:606668 IBD8 disease_ontology DOID:0110904 inflammatory bowel disease 8 DOID:0110904 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p. url:https://www.ncbi.nlm.nih.gov/pubmed/11752413 IBD8 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2. MESH:C567327 MIM:612380 IBD22 disease_ontology DOID:0110905 inflammatory bowel disease 22 DOID:0110905 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/18438405 IBD22 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11. MESH:C567338 MIM:612354 IBD21 disease_ontology DOID:0110906 inflammatory bowel disease 21 DOID:0110906 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11. url:https://www.ncbi.nlm.nih.gov/pubmed/17554261 IBD21 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13. MESH:C564681 MIM:606674 IBD6 disease_ontology DOID:0110907 inflammatory bowel disease 6 DOID:0110907 An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/10777714 IBD6 An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13. MESH:C567252 MIM:612566 IBD24 disease_ontology DOID:0110908 inflammatory bowel disease 24 DOID:0110908 An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/18758464 IBD24 An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22. MIM:612567 IBD25 early onset autosomal recessive inflammatory bowel disease 25 disease_ontology DOID:0110909 inflammatory bowel disease 25 DOID:0110909 An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22. url:https://www.ncbi.nlm.nih.gov/pubmed/19890111 IBD25 A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3. MIM:116920 ORDO:99842 LAD1 LFA1 immunodeficiency leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency disease_ontology DOID:0110910 leukocyte adhesion deficiency 1 DOID:0110910 A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/6361068 LAD1 A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12. MIM:612840 ORDO:99844 IADD LAD1 variant LAD1V LAD3 integrin activation deficiency disease leukocyte adhesion deficiency 1 variant leukocyte adhesion deficiency type III disease_ontology DOID:0110912 leukocyte adhesion deficiency 3 DOID:0110912 A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12. url:https://www.ncbi.nlm.nih.gov/books/NBK539770/ url:https://www.ncbi.nlm.nih.gov/pubmed/19234463 url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99844 IADD LAD1V LAD3 A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12. MIM:146300 ORDO:247676 mild hypophosphatasia disease_ontology DOID:0110913 adult hypophosphatasia DOID:0110913 A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12. url:https://www.ncbi.nlm.nih.gov/pubmed/1409720 A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36. MIM:241500 ORDO:247651 HOPS HPPI phosphoethanolaminuria disease_ontology DOID:0110914 infantile hypophosphatasia DOID:0110914 A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/1689104 HOPS HPPI A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12. GARD:8735 MIM:241510 ORDO:247667 disease_ontology DOID:0110915 childhood hypophosphatasia DOID:0110915 A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12. url:https://www.ncbi.nlm.nih.gov/pubmed/1409720 A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21. MIM:182900 HS1 SPH1 hereditary spherocytosis 1 disease_ontology DOID:0110916 hereditary spherocytosis type 1 DOID:0110916 A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/2675425 HS1 SPH1 A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3. MIM:616649 HS2 SPH2 hereditary spherocytosis 2 disease_ontology DOID:0110917 hereditary spherocytosis type 2 DOID:0110917 A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/8102379 HS2 SPH2 A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1. MIM:270970 HS3 SPH3 hereditary spherocytosis 3 disease_ontology DOID:0110918 hereditary spherocytosis type 3 DOID:0110918 A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1. url:https://www.ncbi.nlm.nih.gov/pubmed/8941647 HS3 SPH3 A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31. MIM:612653 HS4 SPH4 hereditary spherocytosis 4 disease_ontology DOID:0110919 hereditary spherocytosis type 4 DOID:0110919 A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/7530501 HS4 SPH4 A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2. MIM:612690 HS5 SPH5 hereditary spherocytosis 5 disease_ontology DOID:0110920 hereditary spherocytosis type 5 DOID:0110920 A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2. url:https://www.ncbi.nlm.nih.gov/pubmed/1558976 HS5 SPH5 A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22. MIM:267700 FHL1 HLH1 HPLH1 disease_ontology DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 DOID:0110921 A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22. url:https://www.ncbi.nlm.nih.gov/pubmed/9915955 FHL1 HLH1 HPLH1 A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1. GARD:9922 MIM:603553 FHL2 HLH2 HPLH2 disease_ontology DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 DOID:0110922 A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/10583959 FHL2 HLH2 HPLH2 A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1. GARD:9928 MIM:608898 FHL3 HLH3 HPLH3 disease_ontology DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 DOID:0110923 A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/14622600 FHL3 HLH3 HPLH3 A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2. GARD:9929 MIM:603552 FHL4 HLH4 HPLH4 disease_ontology DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 DOID:0110924 A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15703195 FHL4 HLH4 HPLH4 A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. MIM:613101 FHL5 HLH5 HPLH5 disease_ontology DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 DOID:0110925 A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/19804848 FHL5 HLH5 HPLH5 A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21. MESH:C538348 MIM:609284 NEM1 congenital myopathy 4B nemaline myopathy 1, autosomal dominant or recessive disease_ontology DOID:0110926 nemaline myopathy 1 DOID:0110926 A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21. url:https://www.ncbi.nlm.nih.gov/pubmed/10619715 url:https://www.ncbi.nlm.nih.gov/pubmed/24095155 url:https://www.ncbi.nlm.nih.gov/pubmed/7704029 NEM1 A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. MIM:161800 NEM3 congenital myopathy 2A nemaline myopathy 3, autosomal dominant or recessive disease_ontology DOID:0110927 nemaline myopathy 3 DOID:0110927 A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. url:https://www.ncbi.nlm.nih.gov/pubmed/10508519 url:https://www.ncbi.nlm.nih.gov/pubmed/11333380 NEM3 A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. MESH:C538349 MIM:256030 NEM2 congenital myopathy 2 nemaline myopathy 2, autosomal recessive disease_ontology DOID:0110928 nemaline myopathy 2 DOID:0110928 A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. url:https://www.ncbi.nlm.nih.gov/pubmed/10051637 url:https://www.ncbi.nlm.nih.gov/pubmed/15221447 NEM2 A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. MIM:615731 NEM9 disease_ontology DOID:0110929 nemaline myopathy 9 DOID:0110929 A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/24268659 NEM9 A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. MIM:615348 NEM8 nemaline myopathy 8, autosomal recessive disease_ontology DOID:0110930 nemaline myopathy 8 DOID:0110930 A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. url:https://www.ncbi.nlm.nih.gov/pubmed/23746549 NEM8 A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14. MIM:616165 NEM10 congenital myopathy 10 disease_ontology DOID:0110931 nemaline myopathy 10 DOID:0110931 A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14. url:https://www.ncbi.nlm.nih.gov/pubmed/25250574 NEM10 A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. MESH:C538351 MIM:609285 CAP myopathy 2 NEM4 nemaline myopathy 4, autosomal dominant disease_ontology DOID:0110932 nemaline myopathy 4 DOID:0110932 A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11738357 NEM4 A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. MIM:617336 NEM11 nemaline myopathy 11, autosomal recessive disease_ontology DOID:0110933 nemaline myopathy 11 DOID:0110933 A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. url:https://www.ncbi.nlm.nih.gov/pubmed/28017374 NEM11 A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. MESH:C565198 MIM:610687 NEM7 nemaline myopathy 7, autosomal recessive disease_ontology DOID:0110934 nemaline myopathy 7 DOID:0110934 A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. url:https://www.ncbi.nlm.nih.gov/pubmed/17160903 url:https://www.ncbi.nlm.nih.gov/pubmed/22560515 NEM7 A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. MESH:C538398 MIM:609273 nemaline myopathy 6, autosomal dominant disease_ontology DOID:0110935 nemaline myopathy 6 DOID:0110935 A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. url:https://www.ncbi.nlm.nih.gov/pubmed/21109227 A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset. GARD:8334 MESH:C538397 MIM:605355 ORDO:98902 ANM Amish nemaline myopathy NEM5 nemaline myopathy 5, Amish type disease_ontology DOID:0110936 nemaline myopathy 5A DOID:0110936 A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset. url:https://www.ncbi.nlm.nih.gov/pubmed/10952871 ANM NEM5 An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. MESH:C536056 MIM:607634 ORDO:2783 UMLS_CUI:C1843330 OPTA1 autosomal dominant osteopetrosis type 1 disease_ontology DOID:0110937 autosomal dominant osteopetrosis 1 DOID:0110937 An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/12579474 url:https://www.ncbi.nlm.nih.gov/pubmed/3377922 OPTA1 An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. GARD:383 MESH:D010022 MIM:166600 ORDO:53 SNOMEDCT_US_2023_03_01:725050005 UMLS_CUI:C3179239 Albers-Schonberg osteopetrosis OPTA2 autosomal dominant Albers-Schonberg disease autosomal dominant osteopetrosis type II osteopetrosis autosomal dominant type 2 disease_ontology DOID:0110938 autosomal dominant osteopetrosis 2 DOID:0110938 An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11741829 url:https://www.ncbi.nlm.nih.gov/pubmed/3588909 OPTA2 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. GARD:4153 MIM:259720 OPTB5 infantile malignant osteopetrosis 3 disease_ontology DOID:0110939 autosomal recessive osteopetrosis 5 DOID:0110939 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. url:https://www.ncbi.nlm.nih.gov/pubmed/12627228 OPTB5 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. MIM:615085 OPTB8 disease_ontology DOID:0110940 autosomal recessive osteopetrosis 8 DOID:0110940 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. url:https://www.ncbi.nlm.nih.gov/pubmed/22499339 OPTB8 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. GARD:4154 MIM:259730 Guibaud-Vainsel syndrome OPTB3 autosomal recessive osteopetrosis 3 with renal tubular acidosis carbonic anhydrase II deficiency marble brain disease osteopetrosis with renal tubular acidosis disease_ontology DOID:0110941 autosomal recessive osteopetrosis 3 DOID:0110941 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. url:https://www.ncbi.nlm.nih.gov/pubmed/1928091 OPTB3 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. GARD:2579 MIM:259700 OPTB1 autosomal recessive Albers-Schonberg disease infantile malignant osteopetrosis 1 disease_ontology DOID:0110942 autosomal recessive osteopetrosis 1 DOID:0110942 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10888887 OPTB1 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. GARD:4157 MIM:259710 OPTB2 mild autosomal recessive form osteopetrosis osteoclast-poor osteopetrosis disease_ontology DOID:0110943 autosomal recessive osteopetrosis 2 DOID:0110943 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. url:https://www.ncbi.nlm.nih.gov/pubmed/17632511 OPTB2 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. GARD:5993 MIM:611490 OPTB4 infantile malignant osteopetrosis 2 disease_ontology DOID:0110944 autosomal recessive osteopetrosis 4 DOID:0110944 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11207362 OPTB4 An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. GARD:4156 MIM:611497 OPTB6 autosomal recessive osteopetrosis intermediate form disease_ontology DOID:0110945 autosomal recessive osteopetrosis 6 DOID:0110945 An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/17404618 OPTB6 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. GARD:10106 ICD10CM:Q78.2 MIM:612301 ORDO:178389 OPTB7 autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia autosomal recessive osteopetrosis type 7 osteoclast-poor osteopetrosis with hypogammaglobulinemia osteopetrosis-hypogammaglobulinemia syndrome disease_ontology DOID:0110946 autosomal recessive osteopetrosis 7 DOID:0110946 An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. url:https://www.ncbi.nlm.nih.gov/pubmed/18606301 OPTB7 A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3. GARD:5522 MESH:C536465 MIM:600193 WS2B Waardenburg syndrome type IIB disease_ontology DOID:0110947 Waardenburg syndrome type 2B DOID:0110947 A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/20127975 url:https://www.ncbi.nlm.nih.gov/pubmed/7951321 WS2B A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. MESH:D014849 MIM:193500 NCI:C75008 ORDO:894 SNOMEDCT_US_2023_03_01:1010606009 UMLS_CUI:C1847800 WS1 Waardenburg syndrome type I disease_ontology DOID:0110948 Waardenburg syndrome type 1 DOID:0110948 A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. url:https://www.ncbi.nlm.nih.gov/pubmed/1347148 url:https://www.ncbi.nlm.nih.gov/pubmed/20127975 WS1 A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. GARD:5523 ICD10CM:E70.3 MIM:148820 ORDO:896 Klein-Waardenburg syndrome WS3 Waardenburg syndrome type III Waardenburg syndrome with upper limb anomalies disease_ontology DOID:0110949 Waardenburg syndrome type 3 DOID:0110949 A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. url:https://www.ncbi.nlm.nih.gov/pubmed/20127975 url:https://www.ncbi.nlm.nih.gov/pubmed/8447316 WS3 A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13. GARD:5521 MESH:C536464 MIM:193510 WS2A Waardenburg syndrome type IIA disease_ontology DOID:0110950 Waardenburg syndrome type 2A DOID:0110950 A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13. url:https://www.ncbi.nlm.nih.gov/pubmed/20127975 url:https://www.ncbi.nlm.nih.gov/pubmed/7874167 WS2A A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23. MIM:606662 WS2C Waardenburg syndrome type IIC disease_ontology DOID:0110951 Waardenburg syndrome type 2C DOID:0110951 A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23. url:https://www.ncbi.nlm.nih.gov/pubmed/11810298 url:https://www.ncbi.nlm.nih.gov/pubmed/20127975 WS2C A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11. MIM:608890 WS2D Waardenburg syndrome type IID disease_ontology DOID:0110952 Obsoleted because the relevant SNAI2 variant has been reclassified as a variant of unknown significance (see PMID:32975012). obsolete Waardenburg syndrome type 2D true DOID:0110952 A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in homozygous deletion of the SNAI2 gene on chromosome 8q11. url:https://pubmed.ncbi.nlm.nih.gov/32975012/ url:https://www.ncbi.nlm.nih.gov/pubmed/12444107 url:https://www.ncbi.nlm.nih.gov/pubmed/20127975 A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22. MIM:277580 WS4A Waardenburg syndrome type IVA Waardenburg syndrome with Hirschsprung disease type 4A disease_ontology DOID:0110953 Waardenburg syndrome type 4A DOID:0110953 A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22. url:https://www.ncbi.nlm.nih.gov/pubmed/8001158 WS4A A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13. MIM:613265 WS4B Waardenburg syndrome type IVB Waardenburg syndrome with Hirschsprung disease type 4B disease_ontology DOID:0110954 Waardenburg syndrome type 4B DOID:0110954 A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/8630502 WS4B A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13. MIM:613266 WS4C Waardenburg syndrome type IVC Waardenburg syndrome with Hirschsprung disease type 4C disease_ontology DOID:0110955 Waardenburg syndrome type 4C DOID:0110955 A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13. url:https://www.ncbi.nlm.nih.gov/pubmed/9462749 WS4C A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13. MIM:611584 WS2E WS2E with or without neurological involvement Waardenburg syndrome type 2E with or without neurologic involvement Waardenburg syndrome type IIE hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation disease_ontology DOID:0110956 Waardenburg syndrome type 2E DOID:0110956 A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13. url:https://www.ncbi.nlm.nih.gov/pubmed/10441344 url:https://www.ncbi.nlm.nih.gov/pubmed/20127975 WS2E A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. ICD10CM:E75.2 MIM:230800 ORDO:77259 Acid Beta-Glucosidase Deficiency GD I GD1 Gaucher Disease, Noncerebral Juvenile Gba Deficiency Glucocerebrosidase Deficiency disease_ontology DOID:0110957 Gaucher's disease type I DOID:0110957 A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/1897529 GD I GD1 A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. ICD10CM:E75.2 MIM:230900 ORDO:77260 GD II GD2 Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease disease_ontology DOID:0110958 Gaucher's disease type II DOID:0110958 A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10649495 url:https://www.ncbi.nlm.nih.gov/pubmed/2880291 GD II GD2 A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. ICD10CM:E75.2 MIM:231000 ORDO:77261 GD III Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type disease_ontology DOID:0110959 Gaucher's disease type III DOID:0110959 A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/2378352 url:https://www.ncbi.nlm.nih.gov/pubmed/8413956 GD III A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. ICD10CM:E75.2 MIM:608013 ORDO:85212 Fetal Gaucher Disease Gaucher Disease, Collodion Type disease_ontology DOID:0110960 Gaucher's disease perinatal lethal DOID:0110960 A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/12838552 url:https://www.ncbi.nlm.nih.gov/pubmed/1437405 A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. ICD10CM:E75.2 MIM:610539 ORDO:309252 disease_ontology DOID:0110961 atypical Gaucher's disease due to saposin c deficiency DOID:0110961 A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17919309 A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. ICD10CM:Q73.8 MIM:112450 ORDO:1278 Christian brachydactyly preaxial brachydactyly with hallux varus and thumb abduction disease_ontology DOID:0110962 brachydactyly-preaxial hallux varus syndrome DOID:0110962 A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. url:https://www.ncbi.nlm.nih.gov/pubmed/5082920 A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature. ICD10CM:Q73.8 MIM:112440 ORDO:93395 Ballard type brachydactyly Pitt-Williams brachydactyly brachydactyly types B and E combined disease_ontology DOID:0110963 Ballard syndrome DOID:0110963 A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature. url:https://www.ncbi.nlm.nih.gov/pubmed/4009643 A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. GARD:978 MESH:C537088 MIM:112500 ORDO:93388 BDA1 Farabee type brachydactyly disease_ontology DOID:0110964 brachydactyly type A1 DOID:0110964 A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. url:https://www.ncbi.nlm.nih.gov/pubmed/12525541 url:https://www.ncbi.nlm.nih.gov/pubmed/14043746 BDA1 A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. GARD:979 MESH:C537089 MIM:112600 ORDO:93396 SNOMEDCT_US_2023_03_01:720569006 UMLS_CUI:C1832702 BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II disease_ontology DOID:0110965 brachydactyly type A2 DOID:0110965 A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. url:https://www.ncbi.nlm.nih.gov/pubmed/14523231 url:https://www.ncbi.nlm.nih.gov/pubmed/16127465 url:https://www.ncbi.nlm.nih.gov/pubmed/21357617 BDA2 A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger. GARD:963 MESH:C537090 MIM:112700 BDA3 brachydactyly-clinodactyly brachymesophalangy V disease_ontology DOID:0110966 brachydactyly type A3 DOID:0110966 A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger. url:https://www.ncbi.nlm.nih.gov/pubmed/7416253 BDA3 A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus. GARD:990 ICD10CM:Q73.8 MIM:112800 ORDO:93394 BDA4 Temtamy type brachydactyly brachymesophalangy II and V disease_ontology DOID:0110967 brachydactyly type A4 DOID:0110967 A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus. url:https://www.ncbi.nlm.nih.gov/pubmed/4325377 url:https://www.ncbi.nlm.nih.gov/pubmed/5663738 BDA4 A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. GARD:983 MESH:C537092 MIM:112910 ORDO:93382 SNOMEDCT_US_2023_03_01:715722003 UMLS_CUI:C1862130 BDA6 Osebold-Remondini syndrome brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities disease_ontology DOID:0110968 brachydactyly type A6 DOID:0110968 A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. url:https://www.ncbi.nlm.nih.gov/pubmed/4073129 BDA6 A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22. MIM:113000 BDB1 disease_ontology DOID:0110969 brachydactyly type B1 DOID:0110969 A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10700182 url:https://www.ncbi.nlm.nih.gov/pubmed/9973295 BDB1 A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. GARD:986 MESH:C537093 MIM:113100 ORDO:93384 SNOMEDCT_US_2023_03_01:389169005 UMLS_CUI:C1300268 UMLS_CUI:C1862103 BDC disease_ontology DOID:0110970 brachydactyly type C DOID:0110970 A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. url:https://www.ncbi.nlm.nih.gov/pubmed/9288091 BDC A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. MIM:113200 BDD disease_ontology DOID:0110971 brachydactyly type D DOID:0110971 A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. url:https://www.ncbi.nlm.nih.gov/pubmed/12649808 BDD A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. MIM:113300 BDE1 disease_ontology DOID:0110972 brachydactyly type E1 DOID:0110972 A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/12649808 url:https://www.ncbi.nlm.nih.gov/pubmed/8933344 BDE1 A brachydactyly characterized by short, abducted thumbs and great toes. MESH:C535914 MIM:301940 ORDO:2565 SNOMEDCT_US_2023_03_01:733095006 UMLS_CUI:C2931060 Mononen type brachydactyly short and abducted thumbs and great toes disease_ontology DOID:0110973 Mononen-Karnes-Senac syndrome DOID:0110973 A brachydactyly characterized by short, abducted thumbs and great toes. url:https://www.ncbi.nlm.nih.gov/pubmed/1632443 A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. MIM:607004 BDA1B disease_ontology DOID:0110974 brachydactyly type A1B DOID:0110974 A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/11897820 BDA1B A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. ICD10CM:Q73.8 MIM:611377 ORDO:140908 BDB2 disease_ontology DOID:0110975 brachydactyly type B2 DOID:0110975 A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. url:https://www.ncbi.nlm.nih.gov/pubmed/17668388 BDB2 A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. MIM:613382 BDE2 disease_ontology DOID:0110976 brachydactyly type E2 DOID:0110976 A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. url:https://www.ncbi.nlm.nih.gov/pubmed/20015959 url:https://www.ncbi.nlm.nih.gov/pubmed/20170896 BDE2 A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. MIM:615072 BDA1C disease_ontology DOID:0110977 brachydactyly type A1C DOID:0110977 A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. url:https://www.ncbi.nlm.nih.gov/pubmed/20683927 BDA1C A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22. MIM:616849 BDA1D disease_ontology DOID:0110978 brachydactyly type A1D DOID:0110978 A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22. url:https://www.ncbi.nlm.nih.gov/pubmed/25758993 BDA1D A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position. GARD:5058 MIM:272150 ORDO:498602 brachydactyly with major proximal phalangeal shortening disease_ontology DOID:0110979 Sugarman brachydactyly DOID:0110979 A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position. url:https://www.ncbi.nlm.nih.gov/pubmed/7083610 A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. MIM:213300 CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV disease_ontology DOID:0110980 Joubert syndrome 1 DOID:0110980 A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/19668216 CORS1 CPD4 JBTS1 A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2. MESH:C567582 MIM:300804 JBTS10 disease_ontology DOID:0110981 Joubert syndrome 10 DOID:0110981 A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/19800048 JBTS10 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. MIM:614173 JBTS13 disease_ontology DOID:0110982 Joubert syndrome 13 DOID:0110982 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21725307 JBTS13 A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. MIM:614424 JBTS14 disease_ontology DOID:0110983 Joubert syndrome 14 DOID:0110983 A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. url:https://www.ncbi.nlm.nih.gov/pubmed/17603801 url:https://www.ncbi.nlm.nih.gov/pubmed/22152675 JBTS14 A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. MIM:614464 JBTS15 disease_ontology DOID:0110984 Joubert syndrome 15 DOID:0110984 A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. url:https://www.ncbi.nlm.nih.gov/pubmed/22246503 JBTS15 A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. MIM:614465 JBTS16 disease_ontology DOID:0110985 Joubert syndrome 16 DOID:0110985 A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. url:https://www.ncbi.nlm.nih.gov/pubmed/22282472 JBTS16 A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. MIM:614615 JBTS17 disease_ontology DOID:0110986 Joubert syndrome 17 DOID:0110986 A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. url:https://www.ncbi.nlm.nih.gov/pubmed/26092869 JBTS17 A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24. MIM:614815 JBTS18 disease_ontology DOID:0110987 Joubert syndrome 18 DOID:0110987 A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24. url:https://www.ncbi.nlm.nih.gov/pubmed/22883145 JBTS18 A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. GARD:10167 MESH:C536294 MIM:608091 CORS2 JBTS2 cerebellooculorenal syndrome 2 disease_ontology DOID:0110988 Joubert syndrome 2 DOID:0110988 A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/20036350 url:https://www.ncbi.nlm.nih.gov/pubmed/9373798 CORS2 JBTS2 A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. MIM:614970 JBTS20 disease_ontology DOID:0110989 Joubert syndrome 20 DOID:0110989 A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. url:https://www.ncbi.nlm.nih.gov/pubmed/23012439 JBTS20 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. MIM:615636 JBTS21 disease_ontology DOID:0110990 Joubert syndrome 21 DOID:0110990 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. url:https://www.ncbi.nlm.nih.gov/pubmed/24360808 JBTS21 A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. MIM:615665 JBTS22 disease_ontology DOID:0110991 Joubert syndrome 22 DOID:0110991 A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. url:https://www.ncbi.nlm.nih.gov/pubmed/24166846 JBTS22 A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. MIM:616490 JBTS23 disease_ontology DOID:0110992 Joubert syndrome 23 DOID:0110992 A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. url:https://www.ncbi.nlm.nih.gov/pubmed/26096313 JBTS23 A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. MIM:616654 JBTS24 disease_ontology DOID:0110993 Joubert syndrome 24 DOID:0110993 A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21565611 url:https://www.ncbi.nlm.nih.gov/pubmed/25118024 JBTS24 A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. MIM:616781 JBTS25 disease_ontology DOID:0110994 Joubert syndrome 25 DOID:0110994 A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/26477546 JBTS25 A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. MIM:616784 JBTS26 disease_ontology DOID:0110995 Joubert syndrome 26 DOID:0110995 A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. url:https://www.ncbi.nlm.nih.gov/pubmed/26714646 JBTS26 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. MIM:617120 JBTS27 disease_ontology DOID:0110996 Joubert syndrome 27 DOID:0110996 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. url:https://www.ncbi.nlm.nih.gov/pubmed/24886560 JBTS27 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. MIM:617121 JBTS28 disease_ontology DOID:0110997 Joubert syndrome 28 DOID:0110997 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. url:https://www.ncbi.nlm.nih.gov/pubmed/24886560 JBTS28 A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3. MESH:C536295 MIM:608629 JBTS3 disease_ontology DOID:0110998 Joubert syndrome 3 DOID:0110998 A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15322546 JBTS3 A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. GARD:10169 MESH:C536296 MIM:609583 JBTS4 disease_ontology DOID:0110999 Joubert syndrome 4 DOID:0110999 A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. url:https://www.ncbi.nlm.nih.gov/pubmed/15138899 JBTS4 A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21. MESH:C537688 MIM:610188 JBTS5 disease_ontology DOID:0111000 Joubert syndrome 5 DOID:0111000 A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21. url:https://www.ncbi.nlm.nih.gov/pubmed/16682973 JBTS5 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. MESH:C537689 MIM:610688 JBTS6 disease_ontology DOID:0111001 Joubert syndrome 6 DOID:0111001 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. url:https://www.ncbi.nlm.nih.gov/pubmed/17160906 JBTS6 A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2. MESH:C566916 MIM:611560 JBTS7 disease_ontology DOID:0111002 Joubert syndrome 7 DOID:0111002 A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17558409 JBTS7 A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2. MESH:C567358 MIM:612291 JBTS8 disease_ontology DOID:0111003 Joubert syndrome 8 DOID:0111003 A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/18674751 JBTS8 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. MESH:C567364 MIM:612285 JBTS9 disease_ontology DOID:0111004 Joubert syndrome 9 DOID:0111004 A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. url:https://www.ncbi.nlm.nih.gov/pubmed/18387594 JBTS9 A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13. GARD:6145 MIM:120970 CORD2 CRD2 RCRD2 cone-rod retinal dystrophy 2 retinal cone-rod dystrophy 2 disease_ontology DOID:0111005 cone-rod dystrophy 2 DOID:0111005 A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/9390563 CORD2 CRD2 RCRD2 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27. MIM:300085 COD2 CORDX2 X-linked cone dystrophy 2 disease_ontology DOID:0111006 X-linked cone-rod dystrophy 2 DOID:0111006 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27. url:https://www.ncbi.nlm.nih.gov/pubmed/9199568 COD2 CORDX2 A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11. MIM:300476 CORDX3 disease_ontology DOID:0111007 X-linked cone-rod dystrophy 3 DOID:0111007 A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/16505158 CORDX3 A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. MIM:304020 COD1 CORDX1 X-linked cone dystrophy 1 disease_ontology DOID:0111008 X-linked cone-rod dystrophy 1 DOID:0111008 A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. url:https://www.ncbi.nlm.nih.gov/pubmed/11857109 COD1 CORDX1 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3. GARD:10651 MESH:C563469 MIM:600624 CORD1 CRD1 disease_ontology DOID:0111009 cone-rod dystrophy 1 DOID:0111009 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/1867279 CORD1 CRD1 A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1. MESH:C563415 MIM:600977 CORD5 disease_ontology DOID:0111010 cone-rod dystrophy 5 DOID:0111010 A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17377520 CORD5 A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1. GARD:10656 MIM:601777 CORD6 RCD2 retinal cone dystrophy 2 disease_ontology DOID:0111011 cone-rod dystrophy 6 DOID:0111011 A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/9618177 CORD6 RCD2 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13. MESH:C566350 MIM:603649 CORD7 disease_ontology DOID:0111012 cone-rod dystrophy 7 DOID:0111012 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13. url:https://pubmed.ncbi.nlm.nih.gov/35947379/ url:https://www.ncbi.nlm.nih.gov/pubmed/12659814 CORD7 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. GARD:10653 MESH:C565827 MIM:604116 CORD3 disease_ontology DOID:0111013 cone-rod dystrophy 3 DOID:0111013 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. url:https://www.ncbi.nlm.nih.gov/pubmed/9466990 CORD3 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24. MESH:C565322 MIM:605549 CORD8 disease_ontology DOID:0111014 cone-rod dystrophy 8 DOID:0111014 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24. url:https://www.ncbi.nlm.nih.gov/pubmed/11053266 CORD8 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26. MIM:607476 NFRCD disease_ontology DOID:0111015 Newfoundland cone-rod dystrophy DOID:0111015 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26. url:https://www.ncbi.nlm.nih.gov/pubmed/11868161 NFRCD A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2. MESH:C567698 MIM:608194 CORD13 disease_ontology DOID:0111016 cone-rod dystrophy 13 DOID:0111016 A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/12920076 CORD13 A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22. MESH:C564597 MIM:610283 CORD10 disease_ontology DOID:0111017 cone-rod dystrophy 10 DOID:0111017 A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/16199541 CORD10 A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13. MESH:C563671 MIM:610381 CORD11 disease_ontology DOID:0111018 cone-rod dystrophy 11 DOID:0111018 A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/25789692 CORD11 A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. MESH:C567206 MIM:612657 CORD12 disease_ontology DOID:0111019 cone-rod dystrophy 12 DOID:0111019 A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. url:https://pubmed.ncbi.nlm.nih.gov/35947379/ url:https://www.ncbi.nlm.nih.gov/pubmed/18654668 url:https://www.ncbi.nlm.nih.gov/pubmed/24474277 CORD12 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11. MIM:612775 CORD9 disease_ontology DOID:0111020 cone-rod dystrophy 9 DOID:0111020 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11. url:https://www.ncbi.nlm.nih.gov/pubmed/19409519 CORD9 A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23. MIM:613660 CORD15 disease_ontology DOID:0111021 cone-rod dystrophy 15 DOID:0111021 A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23. url:https://www.ncbi.nlm.nih.gov/pubmed/20805371 CORD15 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. MIM:614500 CORD16 retinal dystrophy with early macular involvement disease_ontology DOID:0111022 cone-rod dystrophy 16 DOID:0111022 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. url:https://www.ncbi.nlm.nih.gov/pubmed/26865426 CORD16 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26. MIM:615163 CORD17 disease_ontology DOID:0111023 cone-rod dystrophy 17 DOID:0111023 A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26. url:https://www.ncbi.nlm.nih.gov/pubmed/22929024 CORD17 A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15. MIM:615374 CORD18 disease_ontology DOID:0111024 cone-rod dystrophy 18 DOID:0111024 A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15. url:https://www.ncbi.nlm.nih.gov/pubmed/23746546 CORD18 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24. MIM:615860 CORD19 disease_ontology DOID:0111025 cone-rod dystrophy 19 DOID:0111025 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24. url:https://www.ncbi.nlm.nih.gov/pubmed/24791901 CORD19 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21. MIM:615973 CORD20 disease_ontology DOID:0111026 cone-rod dystrophy 20 DOID:0111026 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21. url:https://www.ncbi.nlm.nih.gov/pubmed/24945461 url:https://www.ncbi.nlm.nih.gov/pubmed/25018096 CORD20 A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. MIM:602390 HFE2A disease_ontology DOID:0111027 hemochromatosis type 2A DOID:0111027 A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. url:https://www.ncbi.nlm.nih.gov/pubmed/14647275 HFE2A A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. GARD:10094 MESH:C537249 MIM:606069 ORDO:139491 SNOMEDCT_US_2023_03_01:719975002 UMLS_CUI:C1853733 HFE4 autosomal dominant hereditary hemochromatosis ferroportin disease hemochromatosis due to defect in ferroportin disease_ontology DOID:0111028 hemochromatosis type 4 DOID:0111028 A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. url:https://www.ncbi.nlm.nih.gov/pubmed/11431687 HFE4 A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. GARD:10417 ICD10CM:E83.1 MIM:235200 ORDO:465508 HFE1 symptomatic form of HFE-related hereditary hemochromatosis symptomatic form of classic hemochromatosis symptomatic form of hemochromatosis type 1 disease_ontology DOID:0111029 hemochromatosis type 1 DOID:0111029 A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. url:https://www.ncbi.nlm.nih.gov/pubmed/8696333 HFE1 A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. GARD:10093 MESH:C537248 MIM:604250 ORDO:225123 SNOMEDCT_US_2023_03_01:719974003 UMLS_CUI:C1858664 HFE3 TFR2-related hemochromatosis hemochromatosis due to defect in transferrin receptor 2 disease_ontology DOID:0111030 hemochromatosis type 3 DOID:0111030 A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. url:https://www.ncbi.nlm.nih.gov/pubmed/10802645 HFE3 A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12. ICD10CM:E83.1 MIM:615517 ORDO:247790 FTH1-associated iron overload FTH1-related iron overload HFE5 disease_ontology DOID:0111031 hemochromatosis type 5 DOID:0111031 A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12. url:https://www.ncbi.nlm.nih.gov/pubmed/11389486 HFE5 A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13. MIM:613313 HFE2B disease_ontology DOID:0111032 hemochromatosis type 2B DOID:0111032 A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/12469120 HFE2B A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. ICD10CM:E83.1 MIM:601195 ORDO:139507 Bantu siderosis iron overload in Africa disease_ontology DOID:0111033 African iron overload DOID:0111033 A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. url:https://www.ncbi.nlm.nih.gov/pubmed/10607817 A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. GARD:10092 ICD10CM:E83.1 MESH:C537247 ORDO:79230 HFE2 JHH juvenile hemochromatosis disease_ontology DOID:0111034 hemochromatosis type 2 DOID:0111034 A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. url:https://www.ncbi.nlm.nih.gov/books/NBK1170/ url:https://www.ncbi.nlm.nih.gov/pubmed/10205270 HFE2 JHH A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. ICD10CM:F01.1 MIM:125310 autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 disease_ontology DOID:0111035 CADASIL 1 DOID:0111035 A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/10476042 url:https://www.ncbi.nlm.nih.gov/pubmed/8878478 A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. ICD10CM:F01.1 MIM:616779 autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 disease_ontology DOID:0111036 CADASIL 2 DOID:0111036 A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. url:https://www.ncbi.nlm.nih.gov/pubmed/26063658 A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. GARD:10764 ICD10CM:E72.1 MIM:606664 ORDO:289891 GNMT deficiency hypermethioninemia due to GNMT deficiency hypermethioninemia due to glycine N-methyltransferase deficiency disease_ontology DOID:0111037 glycine N-methyltransferase deficiency DOID:0111037 A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/1159664 url:https://www.ncbi.nlm.nih.gov/pubmed/11810299 A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. ICD10CM:E72.1 MIM:614300 ORDO:289290 ADK hypermethioninemia MRT8 autosomal recessive mental retardation 8 hypermethioninemia encephalopathy due to ADK deficiency hypermethioninemia encephalopathy due to adenosine kinase deficiency disease_ontology DOID:0111038 hypermethioninemia due to adenosine kinase deficiency DOID:0111038 A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. url:https://www.ncbi.nlm.nih.gov/pubmed/17120046 url:https://www.ncbi.nlm.nih.gov/pubmed/21963049 MRT8 A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. GARD:13177 ICD10CM:E72.1 MIM:613752 ORDO:88618 hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency disease_ontology DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase DOID:0111039 A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. url:https://www.ncbi.nlm.nih.gov/pubmed/15024124 url:https://www.ncbi.nlm.nih.gov/pubmed/2380820 A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13. ICD10CM:E74.0 MIM:300559 ORDO:715 GSD IXd GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type 9E GSD type IXd GSD type IXe GSD9D X-linked muscke glycogenosis glycogen storage disease due to muscle phosphorylase kinase deficiency glycogen storage disease type 9D glycogen storage disease type 9E glycogen storage disease type IXd glycogen storage disease type IXe glycogenosis due to muscle phosphorylase kinase deficiency glycogenosis type 9D glycogenosis type 9E glycogenosis type IXd glycogenosis type IXe muscle phosphorylase kinase deficiency disease_ontology DOID:0111040 glycogen storage disease IXd DOID:0111040 A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13. url:https://www.ncbi.nlm.nih.gov/pubmed/22238410 url:https://www.ncbi.nlm.nih.gov/pubmed/7874115 GSD IXd GSD9D A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12. ICD10CM:E74.0 MESH:C563008 MIM:261750 ORDO:79240 GSD IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb GSD9B glycogen storage disease type 9B glycogen storage disease type IXb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9B glycogenosis type IXb disease_ontology DOID:0111041 glycogen storage disease IXb DOID:0111041 A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12. url:https://www.ncbi.nlm.nih.gov/pubmed/25266922 url:https://www.ncbi.nlm.nih.gov/pubmed/9215682 GSD IXb GSD9B A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22. ICD10CM:E74.0 MIM:306000 GSD type 9A GSD type IXa GSD9A glycogen storage disease type 9A glycogen storage disease type IXa glycogenosis type 9A glycogenosis type IXa disease_ontology DOID:0111042 glycogen storage disease IXa DOID:0111042 A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22. url:https://www.ncbi.nlm.nih.gov/pubmed/2303074 url:https://www.ncbi.nlm.nih.gov/pubmed/7711737 GSD9A A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11. ICD10CM:E74.0 MESH:C567809 MIM:613027 GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc disease_ontology DOID:0111043 glycogen storage disease IXc DOID:0111043 A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11. url:https://www.ncbi.nlm.nih.gov/pubmed/6962066 url:https://www.ncbi.nlm.nih.gov/pubmed/9384616 GSD9C A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. GARD:2562 ICD10CM:D69.1 MESH:D055652 MIM:139090 NCI:C84741 ORDO:721 SNOMEDCT_US_2023_03_01:51720005 UMLS_CUI:C0272302 BDPLT4 GPS platelet alpha-granule deficiency platelet-type bleeding disorder 4 disease_ontology DOID:0111044 gray platelet syndrome DOID:0111044 A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/17768118 url:https://www.ncbi.nlm.nih.gov/pubmed/21765411 url:https://www.ncbi.nlm.nih.gov/pubmed/21765412 url:https://www.ncbi.nlm.nih.gov/pubmed/21765413 BDPLT4 GPS A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. ICD10CM:D69.8 MIM:614200 ORDO:98886 BDPLT9 GP Ia deficiency collagen platelet receptor deficiency glycoprotein Ia deficiency disease_ontology DOID:0111045 platelet-type bleeding disorder 9 DOID:0111045 A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/2933589 url:https://www.ncbi.nlm.nih.gov/pubmed/2943331 BDPLT9 A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21. MIM:608404 BDPLT10 CD36 deficiency platelet glycoprotein IV deficiency disease_ontology DOID:0111046 platelet-type bleeding disorder 10 DOID:0111046 A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21. url:https://www.ncbi.nlm.nih.gov/pubmed/11499670 url:https://www.ncbi.nlm.nih.gov/pubmed/7506948 url:https://www.ncbi.nlm.nih.gov/pubmed/7686693 BDPLT10 A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. MIM:614158 BDPLT14 thromboxane synthase deficiency disease_ontology DOID:0111047 platelet-type bleeding disorder 14 DOID:0111047 A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. url:https://www.ncbi.nlm.nih.gov/pubmed/6268139 BDPLT14 A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21. ICD10CM:D69.4 MIM:616176 ORDO:438207 BDPLT19 severe autosomal recessive macrothrombocytopenia disease_ontology DOID:0111048 platelet-type bleeding disorder 19 DOID:0111048 A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21. url:https://www.ncbi.nlm.nih.gov/pubmed/25061177 BDPLT19 A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. ICD10CM:D69.1 MESH:D055652 MIM:187900 NCI:C84741 SNOMEDCT_US_2023_03_01:51720005 UMLS_CUI:C0272302 BDPLT17 hereditary thrombasthenia-thrombocytopenia disease_ontology DOID:0111049 platelet-type bleeding disorder 17 DOID:0111049 A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. url:https://www.ncbi.nlm.nih.gov/pubmed/24325358 url:https://www.ncbi.nlm.nih.gov/pubmed/5681484 BDPLT17 A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. GARD:8345 MESH:C536260 MIM:601709 ORDO:220436 UMLS_CUI:C1866423 BDPLT5 factor V Quebec platelet-type bleeding disorder 5 disease_ontology DOID:0111050 Quebec platelet disorder DOID:0111050 A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. url:https://www.ncbi.nlm.nih.gov/pubmed/18988861 url:https://www.ncbi.nlm.nih.gov/pubmed/20007542 BDPLT5 A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13. ICD10CM:D69.1 MIM:615888 ORDO:420566 BDPLT18 bleeding disorder due to CalDAG-GEFI deficiency bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency disease_ontology DOID:0111051 platelet-type bleeding disorder 18 DOID:0111051 A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/24958846 BDPLT18 A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. GARD:4777 MESH:C563120 MIM:262890 ORDO:806 SNOMEDCT_US_2023_03_01:128098009 UMLS_CUI:C0796149 BDPLT7 SCTS bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency disease_ontology DOID:0111052 Scott syndrome DOID:0111052 A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. url:https://www.ncbi.nlm.nih.gov/pubmed/12669124 url:https://www.ncbi.nlm.nih.gov/pubmed/21107324 BDPLT7 SCTS A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. MIM:615193 BDPLT15 autosomal dominant macrothrombocytopenia ACTN1-related disease_ontology DOID:0111053 platelet-type bleeding disorder 15 DOID:0111053 A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. url:https://www.ncbi.nlm.nih.gov/pubmed/23434115 BDPLT15 A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13. ICD10CM:D68.03 MESH:D056729 MIM:277480 NCI:C85213 ORDO:166096 SNOMEDCT_US_2023_03_01:128108002 UMLS_CUI:C1264041 VWD type 3 VWD3 von Willebrand disease type 3 von Willebrand disease type III disease_ontology DOID:0111054 von Willebrand's disease 3 DOID:0111054 A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13. url:https://www.ncbi.nlm.nih.gov/pubmed/19630771 url:https://www.ncbi.nlm.nih.gov/pubmed/3258663 VWD3 A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. MIM:616913 ORDO:466806 BDPLT20 autosomal dominant thrombocytopenia with platelet secretion defect disease_ontology DOID:0111055 platelet-type bleeding disorder 20 DOID:0111055 A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. url:https://www.ncbi.nlm.nih.gov/pubmed/26280575 url:https://www.ncbi.nlm.nih.gov/pubmed/26769223 BDPLT20 A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2. ICD10CM:D69.8 MIM:177820 ORDO:52530 BDPLT3 PT-VWD platelet type-von Willebrand disease pseudo-von Willebrand disease von Willebrand disease platelet-type disease_ontology DOID:0111056 platelet-type bleeding disorder 3 DOID:0111056 A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/2052556 url:https://www.ncbi.nlm.nih.gov/pubmed/8486780 BDPLT3 PT-VWD A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. ICD10CM:D69.8 MIM:614201 ORDO:98885 BDPLT11 GP VI deficiency glycoprotein VI deficiency disease_ontology DOID:0111057 platelet-type bleeding disorder 11 DOID:0111057 A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/19549989 url:https://www.ncbi.nlm.nih.gov/pubmed/19552682 BDPLT11 A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. MIM:605735 BDPLT12 PGHS1 deficiency platelet COX1 deficiency platelet cyclooxygenase 1 deficiency platelet prostaglandin-endoperoxide synthase 1 deficiency disease_ontology DOID:0111058 platelet-type bleeding disorder 12 DOID:0111058 A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. url:https://www.ncbi.nlm.nih.gov/pubmed/8562397 BDPLT12 A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p. MIM:153670 BSSA2 disease_ontology DOID:0111059 Bernard-Soulier syndrome type A2 DOID:0111059 A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p. url:https://www.ncbi.nlm.nih.gov/pubmed/11222377 url:https://www.ncbi.nlm.nih.gov/pubmed/1730088 BSSA2 A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22. GARD:8206 ICD10CM:Q84.2 MESH:C536605 MIM:145701 ORDO:1023 Ambras syndrome HTC1 disease_ontology DOID:0111060 Ambras type hypertrichosis universalis congenita DOID:0111060 A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22. url:https://www.ncbi.nlm.nih.gov/pubmed/18328202 url:https://www.ncbi.nlm.nih.gov/pubmed/8275569 url:https://www.ncbi.nlm.nih.gov/pubmed/9712536 HTC1 A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. MIM:605019 FHBL2 combined familial hypolipidemia disease_ontology DOID:0111061 familial hypobetalipoproteinemia 2 DOID:0111061 A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. url:https://www.ncbi.nlm.nih.gov/pubmed/20942659 FHBL2 A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24. MIM:615558 FHBL1 disease_ontology DOID:0111062 familial hypobetalipoproteinemia 1 DOID:0111062 A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24. url:https://www.ncbi.nlm.nih.gov/pubmed/3399894 FHBL1 A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. GARD:10879 ICD10CM:M11.2 MIM:211900 ORDO:306661 HFTC PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia disease_ontology DOID:0111063 hyperphosphatemic familial tumoral calcinosis DOID:0111063 A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. url:https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis url:https://www.ncbi.nlm.nih.gov/pubmed/15133511 url:https://www.ncbi.nlm.nih.gov/pubmed/15590700 url:https://www.ncbi.nlm.nih.gov/pubmed/16151858 url:https://www.ncbi.nlm.nih.gov/pubmed/17710231 HFTC PHPTC A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. ICD10CM:G12.2 MIM:604320 ORDO:98920 DSMA1 SIANRF SMARD1 autosomal recessive distal spinal muscular atrophy 1 autosomal recessive spinal muscular atrophy with respiratory distress dHMN6 diaphragmatic spinal muscular atrophy distal hereditary motor neuropathy type 6 distal spinal muscular atrophy 1 distal-HMN type 6 severe infantile axonal neuropathy with respiratory failure type 1 spinal muscular atrophy with respiratory distress type 1 disease_ontology DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 DOID:0111064 A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/11528396 url:https://www.ncbi.nlm.nih.gov/pubmed/2801766 DSMA1 SIANRF SMARD1 dHMN6 A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. GARD:10133 MESH:C535715 MIM:605726 ORDO:139552 SNOMEDCT_US_2023_03_01:763533003 UMLS_CUI:C1854023 DSMA2 autosomal recessive distal spinal muscular atrophy 2 dHMNJ distal hereditary motor neuropathy Jerash type distal spinal muscular atrophy 2 spinal muscular atrophy Jerash type disease_ontology DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 DOID:0111065 A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. url:https://www.ncbi.nlm.nih.gov/pubmed/26078401 DSMA2 dHMNJ A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. MIM:616278 CBAS5 disease_ontology DOID:0111066 congenital bile acid synthesis defect 5 DOID:0111066 A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. url:https://www.ncbi.nlm.nih.gov/pubmed/25168382 CBAS5 A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14. MIM:617308 CBAS6 disease_ontology DOID:0111067 congenital bile acid synthesis defect 6 DOID:0111067 A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14. url:https://www.ncbi.nlm.nih.gov/pubmed/27647924 url:https://www.ncbi.nlm.nih.gov/pubmed/27884763 CBAS6 A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. GARD:10046 MESH:C535444 MIM:214950 ORDO:79095 UMLS_CUI:C1858328 CBAS4 intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid trihydroxycoprostanic acid in bile disease_ontology DOID:0111068 congenital bile acid synthesis defect 4 DOID:0111068 A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. url:https://www.ncbi.nlm.nih.gov/pubmed/12512044 url:https://www.ncbi.nlm.nih.gov/pubmed/5064535 CBAS4 A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. GARD:10045 MESH:C535443 MIM:235555 ORDO:79303 SNOMEDCT_US_2023_03_01:238035000 UMLS_CUI:C1856127 CBAS2 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency disease_ontology DOID:0111069 congenital bile acid synthesis defect 2 DOID:0111069 A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. url:https://www.ncbi.nlm.nih.gov/pubmed/12970144 url:https://www.ncbi.nlm.nih.gov/pubmed/3198770 url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303 CBAS2 A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. MESH:C566340 MIM:613812 ORDO:79302 UMLS_CUI:C3151147 CBAS3 oxysterol 7-alpha-hydroxylase deficiency disease_ontology DOID:0111070 congenital bile acid synthesis defect 3 DOID:0111070 A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. url:https://www.ncbi.nlm.nih.gov/pubmed/9802883 CBAS3 A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p. GARD:9813 MESH:C535442 MIM:607765 ORDO:79301 SNOMEDCT_US_2023_03_01:238033007 UMLS_CUI:C1843116 CBAS1 disease_ontology DOID:0111071 congenital bile acid synthesis defect 1 DOID:0111071 A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p. url:https://www.ncbi.nlm.nih.gov/pubmed/11067870 url:https://www.ncbi.nlm.nih.gov/pubmed/3470305 CBAS1 A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2. GARD:10238 MESH:C536106 MIM:614160 ORDO:275534 SNOMEDCT_US_2023_03_01:699185005 UMLS_CUI:C2931112 MSLHP disease_ontology DOID:0111072 myostatin-related muscle hypertrophy DOID:0111072 A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15215484 MSLHP A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death. MIM:115080 MIM:PS113900 ORDO:871 PFHB familial Lenegre disease familial Lev disease familial Lev-Lenegre disease familial PCCD familial progressive heart block hereditary bundle branch defect disease_ontology DOID:0111073 progressive familial heart block DOID:0111073 A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death. url:https://www.ncbi.nlm.nih.gov/pubmed/897853 PFHB A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21. MIM:113900 PFHB1A disease_ontology DOID:0111074 progressive familial heart block type IA DOID:0111074 A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21. url:https://www.ncbi.nlm.nih.gov/pubmed/10471492 url:https://www.ncbi.nlm.nih.gov/pubmed/897853 PFHB1A A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32. MESH:C564202 MIM:140400 PFHB2 disease_ontology DOID:0111075 progressive familial heart block type II DOID:0111075 A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32. url:https://www.ncbi.nlm.nih.gov/pubmed/16086176 url:https://www.ncbi.nlm.nih.gov/pubmed/897853 PFHB2 A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. MESH:C567037 MIM:604559 PFHB1B disease_ontology DOID:0111076 progressive familial heart block type IB DOID:0111076 A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/19726882 url:https://www.ncbi.nlm.nih.gov/pubmed/897853 PFHB1B A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. GARD:7514 MESH:C564858 MIM:266200 ORDO:766 PK deficiency Red cell pyruvate kinase deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte pyruvate kinase deficiency of red cells disease_ontology DOID:0111077 congenital nonspherocytic hemolytic anemia 2 DOID:0111077 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/1896471 url:https://www.ncbi.nlm.nih.gov/pubmed/728372 url:https://www.ncbi.nlm.nih.gov/pubmed/7706479 A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31. MESH:D049310 MIM:600334 ORDO:609 SNOMEDCT_US_2023_03_01:698846009 UMLS_CUI:C1838244 Finnish tibial muscular dystrophy TMD Tardive tibial muscular dystrophy Udd myopathy Udd type distal myopathy distal titinopathy disease_ontology DOID:0111078 tibial muscular dystrophy DOID:0111078 A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/12145747 url:https://www.ncbi.nlm.nih.gov/pubmed/196233 url:https://www.ncbi.nlm.nih.gov/pubmed/8503797 TMD A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia. GARD:5926 MESH:D000080365 MIM:605808 ORDO:179 SNOMEDCT_US_2023_03_01:231981005 UMLS_CUI:C1853959 BSCR birdshot chorioretinitis birdshot retinochoroiditis birdshot retinochoroidopathy vitiliginous choroiditis disease_ontology DOID:0111079 birdshot chorioretinopathy DOID:0111079 A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia. url:https://www.ncbi.nlm.nih.gov/pubmed/11226280 url:https://www.ncbi.nlm.nih.gov/pubmed/16263368 url:https://www.ncbi.nlm.nih.gov/pubmed/18214792 BSCR A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36. MIM:617243 FANCV disease_ontology DOID:0111080 Fanconi anemia complementation group V DOID:0111080 A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36. url:https://www.ncbi.nlm.nih.gov/pubmed/27500492 FANCV A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32. MIM:616435 FANCT disease_ontology DOID:0111081 Fanconi anemia complementation group T DOID:0111081 A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32. url:https://www.ncbi.nlm.nih.gov/pubmed/26046368 FANCT A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. MIM:614083 FANCL disease_ontology DOID:0111082 Fanconi anemia complementation group L DOID:0111082 A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. url:https://www.ncbi.nlm.nih.gov/pubmed/12973351 url:https://www.ncbi.nlm.nih.gov/pubmed/19405097 FANCL A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. MIM:227646 FA4 FAD2 FANCD2 Fanconi pancytopenia type 4 disease_ontology DOID:0111083 Fanconi anemia complementation group D2 DOID:0111083 A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. url:https://www.ncbi.nlm.nih.gov/pubmed/11239453 url:https://www.ncbi.nlm.nih.gov/pubmed/17436244 FA4 FAD2 FANCD2 A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21. MIM:600901 FACE FANCE disease_ontology DOID:0111084 Fanconi anemia complementation group E DOID:0111084 A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21. url:https://www.ncbi.nlm.nih.gov/pubmed/11001585 FACE FANCE A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. MIM:617247 FANCU disease_ontology DOID:0111085 Fanconi anemia complementation group U DOID:0111085 A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. url:https://www.ncbi.nlm.nih.gov/pubmed/22232082 FANCU A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13. MIM:614082 FANCG disease_ontology DOID:0111086 Fanconi anemia complementation group G DOID:0111086 A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13. url:https://www.ncbi.nlm.nih.gov/pubmed/9806548 FANCG A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22. MIM:227645 FA3 FACC FANCC Fanconi pancytopenia type 3 disease_ontology DOID:0111087 Fanconi anemia complementation group C DOID:0111087 A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/1574115 url:https://www.ncbi.nlm.nih.gov/pubmed/9272737 FA3 FACC FANCC A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15. MIM:603467 FANCF disease_ontology DOID:0111088 Fanconi anemia complementation group F DOID:0111088 A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/10615118 FANCF A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. MIM:605724 FAD1 FANCD1 disease_ontology DOID:0111089 Fanconi anemia complementation group D1 DOID:0111089 A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. url:https://www.ncbi.nlm.nih.gov/pubmed/12065746 url:https://www.ncbi.nlm.nih.gov/pubmed/14670928 FAD1 FANCD1 A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. MIM:617244 FANCR disease_ontology DOID:0111090 Fanconi anemia complementation group R DOID:0111090 A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. url:https://www.ncbi.nlm.nih.gov/pubmed/26681308 FANCR A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26. MIM:609053 FANCI disease_ontology DOID:0111091 Fanconi anemia complementation group I DOID:0111091 A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26. url:https://www.ncbi.nlm.nih.gov/pubmed/17452773 FANCI A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3. MIM:613951 FANCP disease_ontology DOID:0111092 Fanconi anemia complementation group P DOID:0111092 A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21240275 url:https://www.ncbi.nlm.nih.gov/pubmed/21240277 FANCP A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. MIM:615272 FANCQ disease_ontology DOID:0111093 Fanconi anemia complementation group Q DOID:0111093 A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/23623386 FANCQ A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. MIM:610832 FANCN disease_ontology DOID:0111094 Fanconi anemia complementation group N DOID:0111094 A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. url:https://www.ncbi.nlm.nih.gov/pubmed/17200671 url:https://www.ncbi.nlm.nih.gov/pubmed/17200672 FANCN A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24. MIM:227650 FANCA disease_ontology DOID:0111095 Fanconi anemia complementation group A DOID:0111095 A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24. url:https://www.ncbi.nlm.nih.gov/pubmed/10094191 url:https://www.ncbi.nlm.nih.gov/pubmed/9371798 FANCA A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24. MIM:613390 FANCO disease_ontology DOID:0111096 Fanconi anemia complementation group O DOID:0111096 A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24. url:https://www.ncbi.nlm.nih.gov/pubmed/20400963 FANCO A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. MIM:609054 FANCJ disease_ontology DOID:0111097 Fanconi anemia complementation group J DOID:0111097 A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. url:https://www.ncbi.nlm.nih.gov/pubmed/16116424 FANCJ A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22. MIM:300514 FACB FANCB Fanconi pancytopenia type 2 disease_ontology DOID:0111098 Fanconi anemia complementation group B DOID:0111098 A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22. url:https://www.ncbi.nlm.nih.gov/pubmed/15502827 FACB FANCB A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20. MIM:125850 Diabetes Mellitus Type 2 MODY type 1 MODY1 mild juvenile diabetes mellitus disease_ontology DOID:0111099 maturity-onset diabetes of the young type 1 DOID:0111099 A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20. url:https://www.ncbi.nlm.nih.gov/pubmed/9294105 MODY1 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13. MIM:125851 MODY glucokinase-related MODY type 2 MODY2 disease_ontology DOID:0111100 maturity-onset diabetes of the young type 2 DOID:0111100 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13. url:https://www.ncbi.nlm.nih.gov/pubmed/1570017 MODY2 A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. MIM:137920 CAKUT with diabetes MODY5 RCAD atypical FJHN atypical familial juvenile hyperuricemic nephropathy congenital anomalies of the kidney and urinary tract with diabetes familial hypoplastic glomerulocystic kidney hypoplastic type glomerulocystic kidney disease maturity-onset diabetes of the young type 5 disease_ontology DOID:0111101 renal cysts and diabetes syndrome DOID:0111101 A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. url:https://www.ncbi.nlm.nih.gov/pubmed/11085914 url:https://www.ncbi.nlm.nih.gov/pubmed/15930087 MODY5 RCAD A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31. MIM:600496 MODY type 3 MODY3 disease_ontology DOID:0111102 maturity-onset diabetes of the young type 3 DOID:0111102 A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31. url:https://www.ncbi.nlm.nih.gov/pubmed/11575290 url:https://www.ncbi.nlm.nih.gov/pubmed/7795649 MODY3 A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2. MESH:C563451 MIM:606392 MODY type 4 MODY4 disease_ontology DOID:0111103 maturity-onset diabetes of the young type 4 DOID:0111103 A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/9326926 MODY4 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31. MIM:606394 MODY type 6 MODY6 disease_ontology DOID:0111104 maturity-onset diabetes of the young type 6 DOID:0111104 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/10545951 MODY6 A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13. MIM:609812 MODY type 8 MODY8 diabetes and pancreatic exocrine maturity-onset diabetes of the young type 8 with exocrine dysfunction disease_ontology DOID:0111105 maturity-onset diabetes of the young type 8 DOID:0111105 A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13. url:https://www.ncbi.nlm.nih.gov/pubmed/16369531 MODY8 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25. MIM:610508 MODY7 disease_ontology DOID:0111106 maturity-onset diabetes of the young type 7 DOID:0111106 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25. url:https://www.ncbi.nlm.nih.gov/pubmed/15774581 MODY7 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1. MIM:612225 MODY9 disease_ontology DOID:0111107 maturity-onset diabetes of the young type 9 DOID:0111107 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17426099 MODY9 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5. MIM:613370 MODY10 disease_ontology DOID:0111108 maturity-onset diabetes of the young type 10 DOID:0111108 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5. url:https://www.ncbi.nlm.nih.gov/pubmed/18162506 MODY10 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22. MIM:613375 MODY11 disease_ontology DOID:0111109 maturity-onset diabetes of the young type 11 DOID:0111109 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22. url:https://www.ncbi.nlm.nih.gov/pubmed/19667185 MODY11 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15. MIM:616329 MODY type 13 MODY13 disease_ontology DOID:0111110 maturity-onset diabetes of the young type 13 DOID:0111110 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15. url:https://www.ncbi.nlm.nih.gov/pubmed/15784703 MODY13 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14. MIM:616511 MODY14 disease_ontology DOID:0111111 maturity-onset diabetes of the young type 14 DOID:0111111 A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14. url:https://www.ncbi.nlm.nih.gov/pubmed/26073777 MODY14 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. MIM:256100 NPH1 NPHP1 juvenile nephronophthisis 1 disease_ontology DOID:0111112 nephronophthisis 1 DOID:0111112 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. url:https://www.ncbi.nlm.nih.gov/pubmed/9326933 url:https://www.ncbi.nlm.nih.gov/pubmed/9361039 NPH1 NPHP1 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. MESH:C566582 MIM:602088 NPH2 NPHP2 infantile nephronophthisis 2 disease_ontology DOID:0111113 nephronophthisis 2 DOID:0111113 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. url:https://www.ncbi.nlm.nih.gov/pubmed/12872123 NPH2 NPHP2 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22. MESH:C565780 MIM:604387 NPH3 NPHP3 disease_ontology DOID:0111114 nephronophthisis 3 DOID:0111114 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22. url:https://www.ncbi.nlm.nih.gov/pubmed/12872122 NPH3 NPHP3 A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31. MESH:C564640 MIM:606966 NPHP4 juvenile nephronophthisis 4 disease_ontology DOID:0111115 nephronophthisis 4 DOID:0111115 A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31. url:https://www.ncbi.nlm.nih.gov/pubmed/12244321 NPHP4 A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13. MESH:C566930 MIM:611498 NPHP7 disease_ontology DOID:0111116 nephronophthisis 7 DOID:0111116 A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13. url:https://www.ncbi.nlm.nih.gov/pubmed/17618285 NPHP7 A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. MIM:613159 NPHPL1 disease_ontology DOID:0111117 nephronophthisis-like nephropathy 1 DOID:0111117 A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/20179356 NPHPL1 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. MIM:613550 NPHP11 disease_ontology DOID:0111118 nephronophthisis 11 DOID:0111118 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/19508969 NPHP11 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. MIM:613820 NPHP12 disease_ontology DOID:0111119 nephronophthisis 12 DOID:0111119 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21258341 NPHP12 A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11. MIM:613824 NPHP9 disease_ontology DOID:0111120 nephronophthisis 9 DOID:0111120 A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11. url:https://www.ncbi.nlm.nih.gov/pubmed/18199800 NPHP9 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. MIM:614377 NPHP13 disease_ontology DOID:0111121 nephronophthisis 13 DOID:0111121 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. url:https://www.ncbi.nlm.nih.gov/pubmed/22019273 NPHP13 A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1. MIM:614844 NPHP14 disease_ontology DOID:0111122 nephronophthisis 14 DOID:0111122 A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/22863007 NPHP14 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q. MIM:614845 NPHP15 disease_ontology DOID:0111123 nephronophthisis 15 DOID:0111123 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q. url:https://www.ncbi.nlm.nih.gov/pubmed/22863007 NPHP15 A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22. MIM:615382 NPHP16 disease_ontology DOID:0111124 nephronophthisis 16 DOID:0111124 A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22. url:https://www.ncbi.nlm.nih.gov/pubmed/23793029 NPHP16 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22. MIM:615862 NPHP18 disease_ontology DOID:0111125 nephronophthisis 18 DOID:0111125 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22. url:https://www.ncbi.nlm.nih.gov/pubmed/24882706 NPHP18 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22. MIM:616217 NPHP19 disease_ontology DOID:0111126 nephronophthisis 19 DOID:0111126 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22. url:https://www.ncbi.nlm.nih.gov/pubmed/25557784 NPHP19 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. MIM:617271 NPHP20 disease_ontology DOID:0111127 nephronophthisis 20 DOID:0111127 A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. url:https://www.ncbi.nlm.nih.gov/pubmed/28089251 NPHP20 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2. ICD10CM:N04.1 MIM:603278 FSGS1 disease_ontology DOID:0111128 focal segmental glomerulosclerosis 1 DOID:0111128 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/1429048 FSGS1 A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the TRPC6 gene on chromosome 11q22.1. ICD10CM:N04.1 MESH:C565831 MIM:603965 FSGS2 disease_ontology DOID:0111129 focal segmental glomerulosclerosis 2 DOID:0111129 A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the TRPC6 gene on chromosome 11q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15924139 FSGS2 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33. ICD10CM:N04.1 MESH:C567687 MIM:613237 FSGS5 disease_ontology DOID:0111130 focal segmental glomerulosclerosis 5 DOID:0111130 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33. url:https://www.ncbi.nlm.nih.gov/pubmed/20023659 FSGS5 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2. ICD10CM:N04.1 MIM:614131 FSGS6 disease_ontology DOID:0111131 focal segmental glomerulosclerosis 6 DOID:0111131 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/21756023 FSGS6 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31. ICD10CM:N04.1 MIM:616002 FSGS7 disease_ontology DOID:0111132 focal segmental glomerulosclerosis 7 DOID:0111132 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31. url:https://www.ncbi.nlm.nih.gov/pubmed/24676634 FSGS7 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2. ICD10CM:N04.1 MIM:616032 FSGS8 disease_ontology DOID:0111133 focal segmental glomerulosclerosis 8 DOID:0111133 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2. url:https://www.ncbi.nlm.nih.gov/pubmed/24676636 FSGS8 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the CRB2 gene on chromosome 9q33.3. ICD10CM:N04.1 MIM:616220 FSGS9 disease_ontology DOID:0111134 focal segmental glomerulosclerosis 9 DOID:0111134 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the CRB2 gene on chromosome 9q33.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25557779 FSGS9 A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. GARD:84 ICD10CM:E88.1 MIM:608594 Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell syndrome AGPAT2-related disease_ontology DOID:0111135 congenital generalized lipodystrophy type 1 DOID:0111135 A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11967537 A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. GARD:10212 ICD10CM:E88.1 MIM:269700 Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism disease_ontology DOID:0111136 congenital generalized lipodystrophy type 2 DOID:0111136 A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11479539 CGL2 A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. ICD10CM:E88.1 MIM:612526 Berardinelli-Seip congenital lipodystrophy type 3 disease_ontology DOID:0111137 congenital generalized lipodystrophy type 3 DOID:0111137 A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. url:https://www.ncbi.nlm.nih.gov/pubmed/18237401 A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. GARD:10937 ICD10CM:E88.1 MIM:613327 ORDO:228429 Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy congenital generalised lipodystrophy type 4 generalised congenital lipodystrophy type 4 generalised congenital lipodystrophy with myopathy generalized congenital lipodystrophy type 4 generalized congenital lipodystrophy with myopathy disease_ontology DOID:0111138 congenital generalized lipodystrophy type 4 DOID:0111138 A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/19726876 A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III. GARD:8295 MESH:C565128 disease_ontology DOID:0111139 mitochondrial complex III deficiency DOID:0111139 A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III. url:https://www.ncbi.nlm.nih.gov/pubmed/25914718 A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26. ICD10CM:E03.1 MIM:300888 ORDO:329235 CHTE X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement central hypothyroidism and testicular enlargement disease_ontology DOID:0111140 IGSF1 deficiency syndrome DOID:0111140 A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26. url:https://www.ncbi.nlm.nih.gov/articles/PMC3915563/ url:https://www.ncbi.nlm.nih.gov/pubmed/23143598 CHTE A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time. DSPD disease_ontology DOID:0111141 delayed sleep phase syndrome DOID:0111141 A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time. url:https://www.ncbi.nlm.nih.gov/pubmed/12736803 url:https://www.ncbi.nlm.nih.gov/pubmed/17445238 DSPD A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons. GARD:4066 ICD10CM:Q60.4 ORDO:2260 Oligomeganephronic renal hypoplasia disease_ontology DOID:0111142 oligomeganephronia DOID:0111142 A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons. url:https://www.ncbi.nlm.nih.gov/pubmed/9794553 A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex. GARD:1459 ORDO:254913 SNOMEDCT_US_2023_03_01:780820008 UMLS_CUI:C4757950 disease_ontology DOID:0111143 mitochondrial complex V (ATP synthase) deficiency DOID:0111143 A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex. url:https://www.ncbi.nlm.nih.gov/pubmed/21874297 A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. MESH:C563032 MIM:610504 PPROM disease_ontology DOID:0111144 preterm premature rupture of the membranes DOID:0111144 A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. url:https://www.ncbi.nlm.nih.gov/pubmed/15715585/ url:https://www.ncbi.nlm.nih.gov/pubmed/17400872 PPROM A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter. disease_ontology DOID:0111145 ureteropelvic junction obstruction DOID:0111145 A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter. url:https://www.ncbi.nlm.nih.gov/pubmed/28695117 url:https://www.ncbi.nlm.nih.gov/pubmed/28992643 url:https://www.ncbi.nlm.nih.gov/pubmed/29068584 A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders. GARD:5573 ICD10CM:D68.04 MEDDRA:10069495 ORDO:99147 SNOMEDCT_US_2023_03_01:60078000 UMLS_CUI:C0272362 AVWS disease_ontology DOID:0111146 acquired von Willebrand syndrome DOID:0111146 A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders. url:https://www.ncbi.nlm.nih.gov/pubmed/28028990 AVWS A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis. GARD:11973 ICD10CM:C86.5 ICDO:9705/3 MEDDRA:10002449 MESH:D007119 NCI:C7528 ORDO:86886 SNOMEDCT_US_2023_03_01:52097008 UMLS_CUI:C0020981 disease_ontology DOID:0111147 angioimmunoblastic T-cell lymphoma DOID:0111147 A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis. url:https://rarediseases.org/rare-diseases/angioimmunoblastic-t-cell-lymphoma/ url:https://www.lymphoma.org/aboutlymphoma/nhl/aitl/ url:https://www.ncbi.nlm.nih.gov/pubmed/22700722 A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age. ICD10CM:Q12.1 ICD9CM:743.37 MESH:C536184 MESH:D004479 NCI:C125484 ORDO:1885 SNOMEDCT_US_2023_03_01:231976001 UMLS_CUI:C0013581 UMLS_CUI:C2746069 IEL familial ectopia lentis disease_ontology DOID:0111148 isolated ectopia lentis DOID:0111148 A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age. url:https://www.ncbi.nlm.nih.gov/pubmed/20141359 IEL An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. MIM:225100 ECTOL2 disease_ontology DOID:0111149 autosomal recessive isolated ectopia lentis 2 DOID:0111149 An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. url:https://www.ncbi.nlm.nih.gov/pubmed/19200529 url:https://www.ncbi.nlm.nih.gov/pubmed/20141359 ECTOL2 An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. MIM:129600 UMLS_CUI:C1851286 ECTOL1 disease_ontology DOID:0111150 autosomal dominant isolated ectopia lentis 1 DOID:0111150 An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. url:https://www.ncbi.nlm.nih.gov/pubmed/15054843 ECTOL1 A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity. MESH:D000788 Prinzmetal's angina Prinzmetal's variant angina angina inversa variant angina variant angina pectoris disease_ontology DOID:0111151 Prinzmetal angina DOID:0111151 A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity. url:http://www.heart.org/HEARTORG/Conditions/HeartAttack/DiagnosingaHeartAttack/Prinzmetals-or-Prinzmetal-Angina-Variant-Angina-and-Angina-Inversa_UCM_435674_Article.jsp#.WVavl2cicRk url:https://www.ncbi.nlm.nih.gov/pubmed/28613527 A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. GARD:9644 MESH:C537372 NCI:C27855 ORDO:93686 SNOMEDCT_US_2023_03_01:1156805003 UMLS_CUI:C1334815 MCD PMCD multicentric giant lymph node hyperplasia plasmablastic multicentric Castleman disease disease_ontology DOID:0111152 multicentric Castleman disease DOID:0111152 A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. url:http://www.bloodjournal.org/content/129/12/1646 url:https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease MCD PMCD A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs. ORDO:238722 familial congenital controlateral synkinesia familial congenital mirror movements hereditary congenital controlateral synkinesia hereditary congenital mirror movements isolated congenital controlateral synkinesia isolated congenital mirror movements disease_ontology DOID:0111153 congenital mirror movement disorder DOID:0111153 A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs. url:https://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder#sourcesforpage url:https://www.ncbi.nlm.nih.gov/pubmed/25763452 A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. GARD:9597 ICD10CM:I95.1 MESH:D054972 MIM:604715 ORDO:443236 familial orthostatic tachycardia due to norepinephrine transporter deficiency irritable heart mitral valve prolapse syndrome orhtostatic intolerance orthostatic intolerance due to NET deficiency postural tachycardia syndrome due to NET deficiency soldiers heart disease_ontology DOID:0111154 postural orthostatic tachycardia syndrome DOID:0111154 A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. url:https://rarediseases.info.nih.gov/diseases/9597/postural-orthostatic-tachycardia-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/23580201 An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. MIM:616719 ORDO:466794 SCAR21 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome autosomal recessive spinocerebellar ataxia 21 with hepatopathy disease_ontology DOID:0111155 autosomal recessive spinocerebellar ataxia 21 DOID:0111155 An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/26581903 SCAR21 A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14. DOID:0070175 GARD:12502 MIM:613958 ORDO:171709 globozoospermia male infertility due to round-headed spermatozoa disease_ontology DOID:0111156 spermatogenic failure 9 DOID:0111156 A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14. url:https://ghr.nlm.nih.gov/condition/globozoospermia url:https://www.ncbi.nlm.nih.gov/pubmed/10471512 url:https://www.ncbi.nlm.nih.gov/pubmed/21397064 A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. GARD:12656 ICD10CM:D47.Z2 MESH:C536362 MESH:D005871 NCI:C3056 ORDO:160 SNOMEDCT_US_2023_03_01:207036003 UMLS_CUI:C0017531 UMLS_CUI:C2931179 angiofollicular lymph hyperplasia angiofollicular lymph node hyperplasia giant lymph node hyperplasia lymphoid hamartoma disease_ontology DOID:0111157 Castleman disease DOID:0111157 A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. url:https://rarediseases.org/rare-diseases/castlemans-disease/ A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. GARD:9443 MESH:D000130 MIM:616482 ORDO:85165 SNOMEDCT_US_2023_03_01:699870002 UMLS_CUI:C2674173 SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans disease_ontology DOID:0111158 SADDAN DOID:0111158 A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. url:https://ghr.nlm.nih.gov/condition/saddan url:https://www.ncbi.nlm.nih.gov/pubmed/10053006 A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q. Chromosome 4, Partial Trisomy 4q Distal 4q Trisomy Dup(4q) Syndrome, Partial Duplication 4q Syndrome, Partial Partial Trisomy 4q Syndrome disease_ontology DOID:0111159 partial trisomy distal 4q DOID:0111159 A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q. url:https://rarediseases.org/rare-diseases/chromosome-4-partial-trisomy-distal-4q/ url:https://www.ncbi.nlm.nih.gov/pubmed/23449628 A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16. MESH:C537975 MIM:610474 ORDO:85164 SNOMEDCT_US_2023_03_01:720601000 UMLS_CUI:C1864852 CATSHL syndrome disease_ontology DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome DOID:0111160 A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16. url:https://rarediseases.info.nih.gov/diseases/10012/camptodactyly-tall-stature-and-hearing-loss-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/17033969 A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16. MIM:612247 ORDO:93262 CAN Crouzon-dermoskeletal syndrome Crouzonodermoskeletal syndrome disease_ontology DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome DOID:0111161 A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16. url:https://ghr.nlm.nih.gov/condition/crouzon-syndrome-with-acanthosis-nigricans url:https://www.ncbi.nlm.nih.gov/pubmed/2650599 url:https://www.ncbi.nlm.nih.gov/pubmed/7493034 CAN A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth. DOID:0050532 MESH:C580062 MIM:162900 nonepidermolytic keratinocytic nevus disease_ontology DOID:0111162 epidermal nevus DOID:0111162 A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth. url:https://www.ncbi.nlm.nih.gov/pubmed/7526210 A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11. MESH:C565373 MIM:252160 ORDO:308393 SNOMEDCT_US_2023_03_01:1003368009 UMLS_CUI:C1854989 MOCOD type B MOCODB combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B molybdenum cofactor deficiency complementation group B disease_ontology DOID:0111163 molybdenum cofactor deficiency type B DOID:0111163 A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11. url:https://www.ncbi.nlm.nih.gov/pubmed/10053004 MOCODB A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. MESH:C565372 MIM:252150 ORDO:308386 SNOMEDCT_US_2023_03_01:1003367004 UMLS_CUI:C1854988 MOCOD type A MOCODA combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A molybdenum cofactor deficiency complementation group A disease_ontology DOID:0111164 molybdenum cofactor deficiency type A DOID:0111164 A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/9731530 MOCODA A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. GARD:3705 ICD10CM:E72.1 MESH:C535811 MIM:PS252150 ORDO:99732 MOCOD combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase disease_ontology DOID:0111165 molybdenum cofactor deficiency DOID:0111165 A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. url:https://en.wikipedia.org/wiki/Molybdenum_cofactor_deficiency url:https://ghr.nlm.nih.gov/condition/molybdenum-cofactor-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/10746556 MOCOD A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23. MESH:C565374 MIM:615501 ORDO:308400 SNOMEDCT_US_2023_03_01:1003387003 UMLS_CUI:C1854990 MOCOD type C MOCODC combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C molybdenum cofactor deficiency complementation group C disease_ontology DOID:0111166 molybdenum cofactor deficiency type C DOID:0111166 A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23. url:https://www.ncbi.nlm.nih.gov/pubmed/11095995 MOCODC A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. GARD:6295 MIM:223800 DMC disease pseudo-Morquio disease type I disease_ontology DOID:0111167 Dyggve-Melchior-Clausen disease DOID:0111167 A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. url:https://www.ncbi.nlm.nih.gov/pubmed/12491225 url:https://www.ncbi.nlm.nih.gov/pubmed/21032395 A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency. GARD:10365 MESH:C562657 MIM:612716 ORDO:70594 SNOMEDCT_US_2023_03_01:1187545003 UMLS_CUI:C0268468 DRD due to SRD SPR deficiency SRD dopa-responsive dystonia due to sepiapterin reductase deficiency disease_ontology DOID:0111168 sepiapterin reductase deficiency DOID:0111168 A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency. url:https://ghr.nlm.nih.gov/condition/sepiapterin-reductase-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/11443547 url:https://www.ncbi.nlm.nih.gov/pubmed/15241655 url:https://www.ncbi.nlm.nih.gov/pubmed/22522443 SRD A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. MESH:D054221 MIM:600348 NCI:C116933 ORDO:99796 UMLS_CUI:C1848201 HeCo band heterotopia double cortex syndrome heterotopic cortex subcortical laminar heterotopia disease_ontology DOID:0111169 subcortical band heterotopia DOID:0111169 A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. url:https://rarediseases.info.nih.gov/diseases/1904/subcortical-band-heterotopia url:https://www.ncbi.nlm.nih.gov/pubmed/24859200 HeCo A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8. MIM:608984 ADSA SNAX1 disease_ontology DOID:0111170 autosomal dominant sensory ataxia 1 DOID:0111170 A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8. url:https://www.ncbi.nlm.nih.gov/pubmed/15286160 ADSA SNAX1 A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21. GARD:8370 MESH:C537004 MIM:220111 ORDO:70472 SNOMEDCT_US_2023_03_01:718219002 UMLS_CUI:C1857355 French Canadian type COX deficiency French Canadian type Leigh syndrome French Canadian type cytochrome c oxidase deficiency Saguenay Lac saint Jean type COX deficiency Saguenay Lac saint Jean type Leigh syndrome mitochondrial complex IV deficiency nuclear type 5 disease_ontology DOID:0111180 French Canadian Leigh disease DOID:0111180 A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21. url:https://www.ncbi.nlm.nih.gov/pubmed/12529507 url:https://www.ncbi.nlm.nih.gov/pubmed/21266382 A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13. GARD:2638 MIM:141500 FHM1 MHP1 familial hemiplegic migraine1 with progressive cerebellar ataxia disease_ontology DOID:0111181 familial hemiplegic migraine 1 DOID:0111181 A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13. url:https://www.ncbi.nlm.nih.gov/books/NBK1388/ url:https://www.ncbi.nlm.nih.gov/pubmed/8898206 FHM1 MHP1 A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2. GARD:10095 MIM:602481 FHM2 Familial hemiplegic migraine-2 MHP2 disease_ontology DOID:0111182 familial hemiplegic migraine 2 DOID:0111182 A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2. url:https://www.ncbi.nlm.nih.gov/pubmed/12539047 FHM2 MHP2 A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3. GARD:10974 MIM:609634 FHM3 MHP3 disease_ontology DOID:0111183 familial hemiplegic migraine 3 DOID:0111183 A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/16054936 FHM3 MHP3 A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome. MIM:500011 MLASA3 disease_ontology DOID:0111184 myopathy, lactic acidosis, and sideroblastic anemia 3 DOID:0111184 A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome. url:https://www.ncbi.nlm.nih.gov/pubmed/25037980 MLASA3 A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24. MIM:600462 MLASA1 disease_ontology DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 DOID:0111185 A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24. url:https://www.ncbi.nlm.nih.gov/pubmed/15108122 MLASA1 A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21. MIM:613561 MLASA2 disease_ontology DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 DOID:0111186 A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/20598274 url:https://www.ncbi.nlm.nih.gov/pubmed/24344687 MLASA2 A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. MIM:606768 ORDO:178400 DMAT distal muscular dystrophy with anterior tibial onset disease_ontology DOID:0111187 distal myopathy with anterior tibial onset DOID:0111187 A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. url:https://www.ncbi.nlm.nih.gov/pubmed/11198284 url:https://www.ncbi.nlm.nih.gov/pubmed/9731526 DMAT A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. GARD:12591 MIM:603689 ORDO:178464 Edstrom myopathy HIBM-ERF HMERF Hereditary inclusion body myopathy with early respiratory failure MFM-titinopathy MFM9 MPRM Myofibrillar myopathy-titinopathy autosomal dominant distal myopathy with early respiratory failure hereditary myopathy with early respiratory failure myofibrillar myopathy 9 with early respiratory failure proximal myopathy with early respiratory muscle involvement disease_ontology DOID:0111188 myofibrillar myopathy 9 DOID:0111188 A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. url:https://www.ncbi.nlm.nih.gov/pubmed/15802564 url:https://www.ncbi.nlm.nih.gov/pubmed/23486992 HIBM-ERF HMERF MFM9 MPRM A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13. MIM:610099 ORDO:399086 MPD3 distal muscular dystrophy 3 distal myopathy type 3 disease_ontology DOID:0111189 distal myopathy 3 DOID:0111189 A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/34722876/ url:https://www.ncbi.nlm.nih.gov/pubmed/12847162 url:https://www.ncbi.nlm.nih.gov/pubmed/15036327 MPD3 A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32. MIM:614065 ORDO:63273 MPD4 distal ABD-filaminopathy distal muscular dystrophy 4 distal myopathy with posterior leg and anterior hand involvement disease_ontology DOID:0111190 distal myopathy 4 DOID:0111190 A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32. url:https://www.ncbi.nlm.nih.gov/pubmed/21620354 MPD4 A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. MIM:614321 ORDO:488650 distal muscular dystrophy Tateyama type disease_ontology DOID:0111191 distal myopathy Tateyama type DOID:0111191 A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. url:https://www.ncbi.nlm.nih.gov/pubmed/11805270 A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. MIM:158900 FSHD1 facioscapulohumeral muscular dystrophy type 1 facioscapulohumeral muscular dystrophy type 1A disease_ontology DOID:0111192 facioscapulohumeral muscular dystrophy 1 DOID:0111192 A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. url:https://www.ncbi.nlm.nih.gov/pubmed/1363881 url:https://www.ncbi.nlm.nih.gov/pubmed/15154112 FSHD1 A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression. MIM:158901 FSHD2 facioscapulohumeral muscular dystrophy 1B facioscapulohumeral muscular dystrophy type 2 disease_ontology DOID:0111193 facioscapulohumeral muscular dystrophy 2 DOID:0111193 A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression. url:https://www.ncbi.nlm.nih.gov/pubmed/20975055 url:https://www.ncbi.nlm.nih.gov/pubmed/23143600 FSHD2 A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13. MIM:182980 ORDO:209335 Finkel disease Finkel late-adult type SMA SMAFK autosomal dominant adult proximal spinal muscular atrophy autosomal dominant adult-onset proximal SMA autosomal dominant late-onset spinal muscular atrophy, Finkel type disease_ontology DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy DOID:0111194 A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13. url:https://www.ncbi.nlm.nih.gov/pubmed/15372378 url:https://www.ncbi.nlm.nih.gov/pubmed/7258225 SMAFK An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3. MIM:133200 disease_ontology DOID:0111195 erythrokeratodermia variabilis et progressiva 1 DOID:0111195 An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3. url:https://www.ncbi.nlm.nih.gov/pubmed/12019212 url:https://www.ncbi.nlm.nih.gov/pubmed/9843209 A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. MESH:C564506 MIM:300489 ORDO:139557 SNOMEDCT_US_2023_03_01:766764008 UMLS_CUI:C1845359 ATP7A-related distal motor neuropathy DSMAX SMAX3 X-linked dHMN3 X-linked dSMA3 X-linked distal hereditary motor neuropathy type 3 X-linked recessive distal spinal muscular atrophy disease_ontology DOID:0111196 X-linked distal spinal muscular atrophy 3 DOID:0111196 A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/14985388 url:https://www.ncbi.nlm.nih.gov/pubmed/20170900 DSMAX SMAX3 A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance. MIM:PS604320 ORDO:140468 autosomal recessive distal spinal muscular atrophy disease_ontology DOID:0111197 autosomal recessive distal hereditary motor neuronopathy DOID:0111197 A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/15358725 A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance. MIM:PS182960 ORDO:140465 autosomal dominant dHMN autosomal dominant distal hereditary motor neuropathy autosomal dominant distal spinal muscular atrophy disease_ontology DOID:0111198 autosomal dominant distal hereditary motor neuronopathy DOID:0111198 A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/15358725 An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. DOID:0111201 MIM:158580 ORDO:139589 DHMN7A DHMNVPy HMN VIIA HMN7A Harper-Young myopath dHMN7 distal hereditary motor neuronopathy type 7 distal hereditary motor neuropathy type VIIA distal spinal muscular atrophy with vocal cord paralysis distal spinal muscular atrophy with vocal cord paralysis type 7A disease_ontology DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 DOID:0111199 An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/23141292 url:https://www.ncbi.nlm.nih.gov/pubmed/7420092 DHMN7A DHMNVPy HMN VIIA HMN7A dHMN7 An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. MESH:C566675 MIM:182960 NCI:C132826 ORDO:139518 SNOMEDCT_US_2023_03_01:770630005 UMLS_CUI:C1866784 HMN I autosomal dominant distal juvenile spinal muscular atrophy type 1 dHMN1 distal hereditary motor neuronopathy type 1 distal hereditary motor neuropathy type I spinal Charcot-Marie-Tooth disease 1 disease_ontology DOID:0111200 autosomal dominant distal hereditary motor neuronopathy 1 DOID:0111200 An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. url:https://www.ncbi.nlm.nih.gov/pubmed/17354000 url:https://www.ncbi.nlm.nih.gov/pubmed/7365507 HMN I dHMN1 A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3. disease_ontology DOID:0111201 obsolete distal hereditary motor neuronopathy type 7A true DOID:0111201 A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/23141292 An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. MIM:607641 DHMN7B HMN VIIB HMN7B Harper-Young myopathy distal hereditary motor neuronopathy type 7B distal hereditary motor neuropathy type VIIB distal spinal muscular atrophy with vocal cord paralysis type 7B disease_ontology DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 DOID:0111202 An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/12627231 DHMN7B HMN VIIB HMN7B An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. DOID:0111204 MESH:C563443 MIM:600794 ORDO:139536 SNOMEDCT_US_2023_03_01:1197152005 UMLS_CUI:C1833308 DHMN5 DSMAV HMN5 distal HMN V distal HMN VA distal hereditary motor neuronopathy type 5 distal hereditary motor neuronopathy type 5A distal hereditary motor neuropathy type V distal spinal muscular atrophy type V distal spinal muscular atrophy type VA distal spinal muscular atrophy with upper limb predominance disease_ontology DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 DOID:0111203 An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. url:https://www.ncbi.nlm.nih.gov/pubmed/12690580 url:https://www.ncbi.nlm.nih.gov/pubmed/22703882 DHMN5 DSMAV HMN5 A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3. disease_ontology DOID:0111204 obsolete distal hereditary motor neuronopathy type 5A true DOID:0111204 A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in GARS on 7p14.3 or BSCL2 on 11q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/12690580 url:https://www.ncbi.nlm.nih.gov/pubmed/14981520 An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2. MIM:614751 distal HMN VB distal hereditary motor neuronopathy type 5B distal spinal muscular atrophy type VB disease_ontology DOID:0111205 autosomal dominant distal hereditary motor neuronopathy 12 DOID:0111205 An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/22703882 An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. DOID:0111208 MESH:C580044 MIM:158590 ORDO:139525 UMLS_CUI:C3711384 HMN II HMN IIA HMN2 HMN2A autosomal dominant adult spinal muscular atrophy IIA distal hereditary motor neuronopathy type 2 distal hereditary motor neuronopathy type 2A distal hereditary motor neuropathy type II distal hereditary motor neuropathy type IIA spinal Charcot-Marie-Tooth disease IIA disease_ontology DOID:0111206 autosomal dominant distal hereditary motor neuronopathy 2 DOID:0111206 An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. url:https://pubmed.ncbi.nlm.nih.gov/15358725/ url:https://www.ncbi.nlm.nih.gov/pubmed/15122253 url:https://www.ncbi.nlm.nih.gov/pubmed/1517763 HMN II HMN IIA HMN2 HMN2A An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23. MIM:608634 HMN IIB HMN2B distal hereditary motor neuronopathy type 2B distal hereditary motor neuropathy type IIB disease_ontology DOID:0111207 autosomal dominant distal hereditary motor neuronopathy 3 DOID:0111207 An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/18832141 HMN IIB HMN2B A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23. disease_ontology DOID:0111208 obsolete distal hereditary motor neuronopathy type 2A true DOID:0111208 A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23. url:https://www.ncbi.nlm.nih.gov/pubmed/15122253 A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2. MIM:613376 DHMN2C HMN IIC HMN2C distal hereditary motor neuronopathy type 2C distal hereditary motor neuropathy type IIC disease_ontology DOID:0111209 autosomal dominant distal hereditary motor neuronopathy 4 DOID:0111209 A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/20142617 DHMN2C HMN IIC HMN2C A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32. MIM:615575 HMN IID HMN2D distal hereditary motor neuronopathy type 2D distal hereditary motor neuropathy type IID distal spinal muscular atrophy with calf predominance disease_ontology DOID:0111210 autosomal dominant distal hereditary motor neuronopathy 6 DOID:0111210 A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32. url:https://www.ncbi.nlm.nih.gov/pubmed/24207122 HMN IID HMN2D An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3. MESH:C564626 MIM:607088 ORDO:139547 SNOMEDCT_US_2023_03_01:770430000 UMLS_CUI:C1846823 autosomal recessive distal spinal muscular atrophy type 3 dHMN3 dHMN3 and dHMN4 dHMN4 dSMA3 distal hereditary motor neuropathy type 3 distal hereditary motor neuropathy type 3 and type 4 distal hereditary motor neuropathy type 4 distal spinal muscular atrophy type 3 disease_ontology DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 DOID:0111211 An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15054395 dHMN3 dHMN4 dSMA3 An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2. MIM:617721 DHMN9 HMN9 distal hereditary motor neuronopathy type 9 distal hereditary motor neuropathy type IX disease_ontology DOID:0111212 autosomal dominant distal hereditary motor neuronopathy 9 DOID:0111212 An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2. url:https://www.ncbi.nlm.nih.gov/pubmed/28369220 DHMN9 HMN9 An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31. MESH:C567023 MIM:611067 ORDO:206580 SNOMEDCT_US_2023_03_01:771302009 UMLS_CUI:C1970211 DSMA4 autosomal recessive distal spinal muscular atrophy type 4 autosomal recessive lower motor neuron disease with childhood onset distal spinal muscular atrophy type 4 disease_ontology DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 DOID:0111213 An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31. url:https://www.ncbi.nlm.nih.gov/pubmed/16728649 url:https://www.ncbi.nlm.nih.gov/pubmed/17564964 DSMA4 An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35. MIM:614881 ORDO:314485 DSMA5 autosomal recessive distal spinal muscular atrophy type 5 distal spinal muscular atrophy type 5 young adult-onset dHMN young adult-onset distal hereditary motor neuropathy disease_ontology DOID:0111214 autosomal recessive distal hereditary motor neuronopathy 5 DOID:0111214 An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35. url:https://www.ncbi.nlm.nih.gov/pubmed/22522442 url:https://www.ncbi.nlm.nih.gov/pubmed/25274842 DSMA5 An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11. MIM:600175 DHMN8 HMN8 autosomal dominant benign distal spinal muscular atrophy autosomal dominant congenital benign spinal muscular atrophy congenital benign spinal muscular atrophy with contractures congenital nonprogressive spinal muscular atrophy distal hereditary motor neuronopathy type 8 distal hereditary motor neuropathy type VIII disease_ontology DOID:0111215 autosomal dominant distal hereditary motor neuronopathy 8 DOID:0111215 An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11. url:https://www.ncbi.nlm.nih.gov/pubmed/20037588 url:https://www.ncbi.nlm.nih.gov/pubmed/21336783 url:https://www.ncbi.nlm.nih.gov/pubmed/4056805 DHMN8 HMN8 A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance. GARD:12718 ORDO:169186 AR-CNM disease_ontology DOID:0111216 autosomal recessive centronuclear myopathy DOID:0111216 A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/30103348 AR-CNM A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance. GARD:12719 ICD10CM:G71.228 MESH:D020914 ORDO:169189 SNOMEDCT_US_2023_03_01:716696006 UMLS_CUI:C1834558 AD-CNM disease_ontology DOID:0111217 autosomal dominant centronuclear myopathy DOID:0111217 A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/30103348 AD-CNM A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1. MESH:C565561 MIM:229300 FA1 FRDA1 disease_ontology DOID:0111218 Friedreich ataxia 1 DOID:0111218 A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/10500204 url:https://www.ncbi.nlm.nih.gov/pubmed/10543403 FA1 FRDA1 A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region. MESH:C566594 MIM:601992 FRDA2 disease_ontology DOID:0111219 Friedreich ataxia 2 DOID:0111219 A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region. url:https://www.ncbi.nlm.nih.gov/pubmed/11523563 FRDA2 An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3. MESH:C562934 MIM:255200 SNOMEDCT_US_2023_03_01:240081004 UMLS_CUI:C0410204 CNM2 disease_ontology DOID:0111220 centronuclear myopathy 2 DOID:0111220 An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17676042 CNM2 An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1. MIM:617760 CNM6 disease_ontology DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion DOID:0111221 An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1. url:https://www.ncbi.nlm.nih.gov/pubmed/27816943 CNM6 An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35. MIM:615959 CNM5 disease_ontology DOID:0111222 centronuclear myopathy 5 DOID:0111222 An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35. url:https://www.ncbi.nlm.nih.gov/pubmed/25087613 CNM5 An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2. MIM:160150 CNM1 disease_ontology DOID:0111223 centronuclear myopathy 1 DOID:0111223 An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/16227997 CNM1 An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3. MIM:614807 CNM4 disease_ontology DOID:0111224 centronuclear myopathy 4 DOID:0111224 An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/22818856 CNM4 A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. GARD:11925 ICD10CM:G71.220 MESH:D020914 MIM:310400 NCI:C118781 ORDO:596 SNOMEDCT_US_2023_03_01:46804001 UMLS_CUI:C0410203 CNMX MTM1 X-linked myotubular myopathy XLCNM XLMTM myotubular myopathy 1 disease_ontology DOID:0111225 centronuclear myopathy X-linked DOID:0111225 A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/8640223 CNMX MTM1 XLCNM XLMTM A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1. MIM:300580 CFTDX disease_ontology DOID:0111226 X-linked congenital myopathy with fiber-type disproportion DOID:0111226 A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16173074 CFTDX A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2. DOID:0060208 MESH:C579991 MIM:600795 ALS17 AMYOTROPHIC LATERAL SCLEROSIS AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY) CHMP2B-RELATED CHMP2B-related frontotemporal dementia FRONTOTEMPORAL DEMENTIA FTD3 FTDALS7 amyotrophic lateral sclerosis type 17 chromosome 3-linked frontotemporal dementia disease_ontology DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 DOID:0111227 A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2. url:https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia/#resources url:https://www.ncbi.nlm.nih.gov/books/NBK1199/ url:https://www.ncbi.nlm.nih.gov/pubmed/16041373 ALS17 FTD3 FTDALS7 An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3. MESH:C566236 MIM:108985 ORDO:86813 SNOMEDCT_US_2023_03_01:724384008 UMLS_CUI:C1862382 HPCD SCRA atrophia areata helicoid peripapillary chorioretinal degeneration peripapillary chorioretinal degeneration, Icelandic type disease_ontology DOID:0111228 Sveinsson chorioretinal atrophy DOID:0111228 An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15016762 url:https://www.ncbi.nlm.nih.gov/pubmed/419979 HPCD SCRA A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. MIM:PS236670 ORDO:352687 MDDGA congenital muscular alpha-dystroglycanopathy with brain and eye anomalies klissencephaly type 2 with muscular and ocular involvement disease_ontology DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A DOID:0111229 A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. url:https://www.ncbi.nlm.nih.gov/pubmed/23453667 MDDGA A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3. MIM:615181 MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11 disease_ontology DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 DOID:0111230 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3. url:https://www.ncbi.nlm.nih.gov/pubmed/23453667 MDDGA11 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. MIM:614830 MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8 disease_ontology DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 DOID:0111231 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/22958903 MDDGA8 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31. MIM:616538 MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9 disease_ontology DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9 DOID:0111232 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/24052401 MDDGA9 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31. MIM:615350 MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14 disease_ontology DOID:0111233 congenital muscular dystrophy-dystroglycanopathy type A14 DOID:0111233 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/23768512 MDDGA14 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1. MIM:614643 MDDGA7 Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7 disease_ontology DOID:0111234 congenital muscular dystrophy-dystroglycanopathy type A7 DOID:0111234 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/22522420 MDDGA7 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21. MIM:615249 MDDGA12 Walker-Warburg syndrome or muscle-eye-brain disease POMK-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12 disease_ontology DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 DOID:0111235 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/23519211 MDDGA12 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. MIM:253280 MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3 disease_ontology DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 DOID:0111236 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11709191 MDDGA3 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. MIM:236670 MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1 disease_ontology DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 DOID:0111237 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. url:https://www.ncbi.nlm.nih.gov/pubmed/12369018 MDDGA1 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2. MIM:615287 MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13 disease_ontology DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 DOID:0111238 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/23359570 MDDGA13 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2. MIM:615041 MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10 disease_ontology DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 DOID:0111239 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2. url:https://www.ncbi.nlm.nih.gov/pubmed/23217329 MDDGA10 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. MIM:613150 MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2 disease_ontology DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 DOID:0111240 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15894594 MDDGA2 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32. MIM:613153 MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 disease_ontology DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 DOID:0111241 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32. url:https://www.ncbi.nlm.nih.gov/pubmed/15121789 MDDGA5 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3. MIM:613154 MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6 disease_ontology DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 DOID:0111242 A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17436019 MDDGA6 An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. GARD:7 MESH:C535662 MIM:102370 ORDO:969 SNOMEDCT_US_2023_03_01:254090007 UMLS_CUI:C0265287 ACMICD acromicric skeletal dysplasia disease_ontology DOID:0111243 acromicric dysplasia DOID:0111243 An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/21683322 url:https://www.ncbi.nlm.nih.gov/pubmed/3728563 ACMICD An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. GARD:604 MESH:C537050 MIM:104100 ORDO:1010 UMLS_CUI:C1863093 PPK-CA, Stevanovic type PPKCA Stevanovic type PPKCA1 autosomal dominant palmoplantar hyperkeratosis and congenital alopecia autosomal dominant palmoplantar keratoderma and congenital alopecia keratoderma-hypotrichosis-leukonychia totalis syndrome palmoplantar keratoderma and congenital alopecia, Stevanovic type disease_ontology DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 DOID:0111244 An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. url:https://www.ncbi.nlm.nih.gov/pubmed/20635335 url:https://www.ncbi.nlm.nih.gov/pubmed/25168385 PPKCA1 An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. MESH:C535336 MIM:212360 ORDO:1366 UMLS_CUI:C1859316 CASS PPK-CA, Wallis type PPKCA Wallis type PPKCA2 autosomal recessive palmoplantar hyperkeratosis and congenital alopecia autosomal recessive palmoplantar keratoderma and congenital alopecia cataract-alopecia-sclerodactyly syndrome palmoplantar keratoderma and congenital alopecia, Wallis type disease_ontology DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 DOID:0111245 An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. url:https://www.ncbi.nlm.nih.gov/pubmed/20635335 CASS PPKCA2 A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2. GARD:9239 MESH:D000690 MIM:105500 ORDO:90020 SNOMEDCT_US_2023_03_01:62239001 UMLS_CUI:C0543859 ALS-PDC Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome Guam disease Lytico-Bodig disease PDALS amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam parkinsonism-dementia-ALS complex disease_ontology DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 DOID:0111246 A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/16051700 url:https://www.ncbi.nlm.nih.gov/pubmed/5770171 ALS-PDC PDALS A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2. GARD:967 MESH:C537095 MIM:112410 ORDO:1276 SNOMEDCT_US_2023_03_01:720568003 UMLS_CUI:C1862170 Bilginturan brachydactyly Bilginturan syndrome HTNB brachydactyly with hypertension type E brachydactyly with short stature and hypertension disease_ontology DOID:0111247 hypertension and brachydactyly syndrome DOID:0111247 A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/25961942 url:https://www.ncbi.nlm.nih.gov/pubmed/4774535 HTNB A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13. GARD:6026 MESH:C562538 MIM:117650 ORDO:1393 SNOMEDCT_US_2023_03_01:51780007 UMLS_CUI:C0265342 CCM syndrome CCMS cerebro-costo-mandibular syndrome rib gap defects with micrognathia disease_ontology DOID:0111248 cerebrocostomandibular syndrome DOID:0111248 A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13. url:https://www.ncbi.nlm.nih.gov/pubmed/19008299 url:https://www.ncbi.nlm.nih.gov/pubmed/25047197 CCMS A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1. GARD:1440 MESH:C535971 MIM:120433 ORDO:1473 UMLS_CUI:C0795902 COB1 Uveal coloboma-cleft lip/palate-mental retardation syndrome coloboma-microphthalmos syndrome coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation disease_ontology DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability DOID:0111249 A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/24462371 COB1 A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region. MIM:602404 PARK3 Parkinson disease 3 autosomal dominant Lewy body Parkinson disease 3 autosomal dominant Parkinson disease 3 disease_ontology DOID:0111250 Parkinson's disease 3 DOID:0111250 A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region. url:https://www.ncbi.nlm.nih.gov/pubmed/14663042 url:https://www.ncbi.nlm.nih.gov/pubmed/9500549 PARK3 A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years. MIM:616361 PARK21 Parkinson disease 21 disease_ontology DOID:0111251 Parkinson's disease 21 DOID:0111251 A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years. url:https://www.ncbi.nlm.nih.gov/pubmed/24218364 url:https://www.ncbi.nlm.nih.gov/pubmed/27270108 PARK21 A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. GARD:7193 ICD10CM:Q85.02 ICD9CM:237.72 MESH:D016518 MIM:101000 NCI:C3274 ORDO:637 SNOMEDCT_US_2023_03_01:92503002 UMLS_CUI:C0027832 ACN BANF NF2 NF2-related schwannomatosis SWN3 SWNV acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3 disease_ontology DOID:0111252 vestibular schwannomatosis GARD:7193 ICD10CM:Q85.02 ICD9CM:237.72 MESH:D016518 MIM:101000 NCI:C3274 ORDO:637 SNOMEDCT_US_2023_03_01:92503002 UMLS_CUI:C0027832 ORDO:634475 DOID:0111252 A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. url:https://pubmed.ncbi.nlm.nih.gov/35674741/ ACN BANF NF2 SWN3 SWNV A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. ICD10CM:Q85.01 ICD9CM:237.71 MESH:D009456 MIM:162200 NCI:C3273 ORDO:636 SNOMEDCT_US_2023_03_01:92824003 UMLS_CUI:C0027831 NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease disease_ontology DOID:0111253 neurofibromatosis 1 ICD10CM:Q85.01 ICD9CM:237.71 MESH:D009456 MIM:162200 NCI:C3273 ORDO:636 SNOMEDCT_US_2023_03_01:92824003 UMLS_CUI:C0027831 DOID:0111253 A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. url:https://pubmed.ncbi.nlm.nih.gov/34012067/ url:https://pubmed.ncbi.nlm.nih.gov/35698197/ NF1 An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13. GARD:6522 MESH:C536833 MIM:231670 ORDO:25 GA1 glutaric academia type 1 glutaric aciduria 1 glutaric aciduria type I glutaryl-coA dehydrogenase deficiency glutaryl-coenzyme A dehydrogenase deficiency disease_ontology DOID:0111254 glutaric acidemia I DOID:0111254 An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13. url:https://www.ncbi.nlm.nih.gov/pubmed/16602100 GA1 A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. GARD:3427 MEDDRA:10052312 MESH:C538159 MIM:236700 ORDO:2473 SNOMEDCT_US_2023_03_01:702407009 UMLS_CUI:C0948368 HMCS Kaufman McKusick syndrome MKKS hydrometrocolpos syndrome hydrometrocolpos, postaxial polydactyly, and congenital heart malformation hydrometrocolpos-postaxial polydactyly syndrome disease_ontology DOID:0111255 McKusick-Kaufman syndrome DOID:0111255 A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10802661 url:https://www.ncbi.nlm.nih.gov/pubmed/21044901 HMCS MKKS A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33. GARD:2806 MESH:C538137 MIM:600886 ORDO:163 SNOMEDCT_US_2023_03_01:702398007 UMLS_CUI:C1833213 Bonneau-Beaumont syndrome HHCS HRFTC cataract-hyperferritinemia syndrome hereditary hyperferritinemia with congenital cataracts hereditary hyperferritinemia-cataract syndrome hyperferritinemia with or without cataract disease_ontology DOID:0111256 hyperferritinemia-cataract syndrome DOID:0111256 A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33. url:https://www.ncbi.nlm.nih.gov/pubmed/7493028 url:https://www.ncbi.nlm.nih.gov/pubmed/7669675 HHCS HRFTC An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23. GARD:10099 MESH:C536836 MIM:231950 ORDO:33573 SNOMEDCT_US_2023_03_01:78586005 UMLS_CUI:C0268524 GGT deficiency GGT1 deficiency GTG deficiency gamma-glutamyl transferase deficiency glutathionuria disease_ontology DOID:0111257 gamma-glutamyl transpeptidase deficiency DOID:0111257 An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/29483667 An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3. GARD:418 ICD10CM:E74.89 MEDDRA:10064170 MESH:C536652 MIM:260800 ORDO:2843 SNOMEDCT_US_2023_03_01:190764000 UMLS_CUI:C0268162 L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency disease_ontology DOID:0111258 pentosuria DOID:0111258 An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/22042873 PNTSU A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2. GARD:8410 MESH:C537680 MIM:263750 ORDO:246 SNOMEDCT_US_2023_03_01:66038001 UMLS_CUI:C0265257 Miller syndrome POADS Postaxial acrodysostosis acrofacial dysostosis, Genee-Wiedmann type mandibulfacial dysostosis with postaxial limb anomalies disease_ontology DOID:0111259 postaxial acrofacial dysostosis DOID:0111259 A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/19915526 url:https://www.ncbi.nlm.nih.gov/pubmed/501501 POADS An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset. MESH:C567064 MIM:300661 ORDO:3222 SNOMEDCT_US_2023_03_01:723454008 UMLS_CUI:C1970827 PRPP synthetase superactivity PRPS1 superactivity disease_ontology DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity DOID:0111260 An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset. url:https://www.ncbi.nlm.nih.gov/pubmed/20301734 url:https://www.ncbi.nlm.nih.gov/pubmed/8253776 An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43. GARD:6476 MESH:C538191 MIM:606812 ORDO:24 SNOMEDCT_US_2023_03_01:237983002 UMLS_CUI:C0342770 UMLS_CUI:C2936826 FMRD fumaric aciduria disease_ontology DOID:0111261 fumarase deficiency DOID:0111261 An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43. url:https://www.ncbi.nlm.nih.gov/pubmed/22069215 url:https://www.ncbi.nlm.nih.gov/pubmed/8200987 FMRD A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21. GARD:10995 MIM:613668 ORDO:402364 postnatal progressive microcephaly, seizures, and brain atrophy disease_ontology DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly DOID:0111262 A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21. url:https://www.ncbi.nlm.nih.gov/pubmed/20950787 An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3. GARD:10818 MESH:C580002 MIM:614265 ORDO:289504 SNOMEDCT_US_2023_03_01:702365002 UMLS_CUI:C3280314 CMAMMA combined malonic and methylmalonic aciduria disease_ontology DOID:0111263 combined malonic and methylmalonic acidemia DOID:0111263 An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21841779 url:https://www.ncbi.nlm.nih.gov/pubmed/9700595 CMAMMA A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2. MIM:616200 ORDO:435953 progeroid features-hepatocellular carcinoma predisposition syndrome disease_ontology DOID:0111264 Ruijs-Aalfs syndrome DOID:0111264 A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2. url:https://www.ncbi.nlm.nih.gov/pubmed/25261934 A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. GARD:944 MESH:C565850 MIM:215470 ORDO:1180 SNOMEDCT_US_2023_03_01:715984007 UMLS_CUI:C1859093 ataxia-hypogonadism-choroidal dystrophy syndrome disease_ontology DOID:0111265 Boucher-Neuhauser syndrome DOID:0111265 A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/24355708 A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2. GARD:413 MESH:C537799 MIM:231070 ORDO:2078 SNOMEDCT_US_2023_03_01:254116003 UMLS_CUI:C0432255 GO Walt Disney dwarfism geroderma osteodysplastica gerodermia osteodysplastica disease_ontology DOID:0111266 geroderma osteodysplasticum DOID:0111266 A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2. url:https://www.ncbi.nlm.nih.gov/pubmed/18997784 url:https://www.ncbi.nlm.nih.gov/pubmed/26000619 GO A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. GARD:7148 ORDO:53698 myosin storage myopathy disease_ontology DOID:0111267 hyaline body myopathy DOID:0111267 A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/22918376 A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2. MIM:255160 MSMB Myopathy, myosin storage, autosomal recessive congenital myopathy 7B disease_ontology DOID:0111268 autosomal recessive hyaline body myopathy DOID:0111268 A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17372140 MSMB A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2. MIM:608358 MSMA Myopathy, myosin storage, autosomal dominant congenital myopathy 7A myopathy with lysis of type I myofibrils disease_ontology DOID:0111269 autosomal dominant hyaline body myopathy DOID:0111269 A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/16684601 MSMA An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2. GARD:5062 ICD10CM:E72.19 MESH:C538141 MIM:272300 ORDO:99731 SNOMEDCT_US_2023_03_01:237935000 SNOMEDCT_US_2023_03_01:40873003 UMLS_CUI:C0268624 UMLS_CUI:C2931746 sulfocysteinuria disease_ontology DOID:0111270 isolated sulfite oxidase deficiency DOID:0111270 An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2. url:https://www.ncbi.nlm.nih.gov/books/NBK453433/ url:https://www.ncbi.nlm.nih.gov/pubmed/6025118 url:https://www.ncbi.nlm.nih.gov/pubmed/9428520 A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. GARD:5266 MESH:C536554 MIM:275400 ORDO:3363 SNOMEDCT_US_2023_03_01:719944006 UMLS_CUI:C1848745 OMCS eyelashes long mental retardation long eyelashes-intellectual disability syndrome trichomegaly-retina pigmentary degeneration-dwarfism syndrome disease_ontology DOID:0111271 Oliver-McFarlane syndrome DOID:0111271 A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/25480986 OMCS A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease. GARD:4017 MESH:C537860 MIM:304150 ORDO:198 SNOMEDCT_US_2023_03_01:59399004 UMLS_CUI:C0268353 EDS IX Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX X-linked cutis laxa disease_ontology DOID:0111272 occipital horn syndrome DOID:0111272 A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease. url:https://www.ncbi.nlm.nih.gov/pubmed/7842019 url:https://www.ncbi.nlm.nih.gov/pubmed/7887410 EDS IX A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. GARD:262 MEDDRA:10062940 MESH:C537396 MIM:551500 ORDO:644 SNOMEDCT_US_2023_03_01:237984008 UMLS_CUI:C1328349 Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome Neuropathy-ataxia-retinitis pigmentosa syndrome neuropathy, ataxia and retinitis pigmentosa disease_ontology DOID:0111273 NARP syndrome DOID:0111273 A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. url:https://www.ncbi.nlm.nih.gov/pubmed/2137962 A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. GARD:1418 MESH:C536434 MIM:600373 NCI:C126744 ORDO:1458 SNOMEDCT_US_2023_03_01:717772000 UMLS_CUI:C1838180 cerebral, ocular, dental, auricular, and skeletal syndrome cerebro-oculo-dento-auriculo-skeletal syndrome disease_ontology DOID:0111274 CODAS syndrome DOID:0111274 A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25574826 A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1. GARD:12889 MIM:602081 ORDO:209908 CAS articulatory apraxia childhood apraxia of speech developmental apraxia of speech developmental verbal dyspraxia speech and language disorder with orofacial dyspraxia speech-language disorder type 1 disease_ontology DOID:0111275 speech-language disorder-1 DOID:0111275 A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11586359 url:https://www.ncbi.nlm.nih.gov/pubmed/1934976 CAS A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. MESH:C537583 MIM:607459 ORDO:70595 SNOMEDCT_US_2023_03_01:717266001 UMLS_CUI:C1843851 SANDO autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions disease_ontology DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis DOID:0111276 A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. url:https://www.ncbi.nlm.nih.gov/pubmed/12565911 url:https://www.ncbi.nlm.nih.gov/pubmed/20220442 url:https://www.ncbi.nlm.nih.gov/pubmed/9222196 SANDO A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy. GARD:3684 MESH:C566945 MIM:PS609015 NCI:C98991 ORDO:746 SNOMEDCT_US_2023_03_01:237999008 UMLS_CUI:C1969443 MTPD TFP deficiency TFPD disease_ontology DOID:0111277 mitochondrial trifunctional protein deficiency DOID:0111277 A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy. url:https://www.ncbi.nlm.nih.gov/pubmed/12754706 url:https://www.ncbi.nlm.nih.gov/pubmed/12838198 url:https://www.ncbi.nlm.nih.gov/pubmed/7738175 MTPD TFPD A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. GARD:7588 ICDO:9749/3 MIM:602782 NCI:C36075 Faisalabad histiocytosis H syndrome HJCD PHID Rosai–Dorfman disease SHML cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss familial Rosai-Dorfman disease histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness histiocytosis with joint contractures and sensorineural deafness pigmented hypertrichosis with insulin-dependent diabetes mellitus sinus histiocytosis and massive lymphadenopathy disease_ontology DOID:0111278 histiocytosis-lymphadenopathy plus syndrome DOID:0111278 A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. url:https://www.ncbi.nlm.nih.gov/pubmed/20140240 HJCD PHID SHML A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R. MIM:605606 PSORS7 disease_ontology DOID:0111279 psoriasis 7 DOID:0111279 A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R. url:https://www.ncbi.nlm.nih.gov/pubmed/17236132 PSORS7 A psoriasis that has_material_basis_in variation in a region on chromosome 1q21. MIM:603935 PSORS4 disease_ontology DOID:0111280 psoriasis 4 DOID:0111280 A psoriasis that has_material_basis_in variation in a region on chromosome 1q21. url:https://www.ncbi.nlm.nih.gov/pubmed/9886260 PSORS4 A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in the AP1S3 gene on chromosome 2q36.1. MIM:616106 PSORS15 disease_ontology DOID:0111281 psoriasis 15 DOID:0111281 A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in the AP1S3 gene on chromosome 2q36.1. url:https://www.ncbi.nlm.nih.gov/pubmed/24791904 PSORS15 A psoriasis that has_material_basis_in variation in a region on chromosome 3q21. MIM:604316 PSORS5 disease_ontology DOID:0111282 psoriasis 5 DOID:0111282 A psoriasis that has_material_basis_in variation in a region on chromosome 3q21. url:https://www.ncbi.nlm.nih.gov/pubmed/10573011 PSORS5 A psoriasis that has_material_basis_in variation in a region on chromosome 4q. MIM:601454 PSORS3 disease_ontology DOID:0111283 psoriasis 3 DOID:0111283 A psoriasis that has_material_basis_in variation in a region on chromosome 4q. url:https://www.ncbi.nlm.nih.gov/pubmed/8841203 PSORS3 A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34. MIM:607857 PSORS9 disease_ontology DOID:0111284 psoriasis 9 DOID:0111284 A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34. url:https://www.ncbi.nlm.nih.gov/pubmed/12485440 PSORS9 A psoriasis that has_material_basis_in variation in a region on chromosome 5q31.1-q33.1 that includes IL12B. MIM:612599 PSORS11 disease_ontology DOID:0111285 psoriasis 11 DOID:0111285 A psoriasis that has_material_basis_in variation in a region on chromosome 5q31.1-q33.1 that includes IL12B. url:https://www.ncbi.nlm.nih.gov/pubmed/17236132 PSORS11 A psoriasis that has_material_basis_in variation in HLA-C on chromosome 6p21.33. MIM:177900 PSORS1 disease_ontology DOID:0111286 psoriasis 1 DOID:0111286 A psoriasis that has_material_basis_in variation in HLA-C on chromosome 6p21.33. url:https://www.ncbi.nlm.nih.gov/pubmed/11841557 PSORS1 A psoriasis that has_material_basis_in variation in the TRAF3IP2 gene on chromosome 6q21. MIM:614070 PSORS13 disease_ontology DOID:0111287 psoriasis 13 DOID:0111287 A psoriasis that has_material_basis_in variation in the TRAF3IP2 gene on chromosome 6q21. url:https://www.ncbi.nlm.nih.gov/pubmed/20953188 PSORS13 A psoriasis that has_material_basis_in variation in a region on chromosome 16q. This region overlaps one that is associated with inflammatory bowel disease 1 disease. MIM:610707 PSORS8 disease_ontology DOID:0111288 psoriasis 8 DOID:0111288 A psoriasis that has_material_basis_in variation in a region on chromosome 16q. This region overlaps one that is associated with inflammatory bowel disease 1 disease. url:https://www.ncbi.nlm.nih.gov/pubmed/9259283 PSORS8 A psoriasis that has_material_basis_in variation in a region on chromosome 18p11.23. MIM:612410 PSORS10 disease_ontology DOID:0111289 psoriasis 10 DOID:0111289 A psoriasis that has_material_basis_in variation in a region on chromosome 18p11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/14632189 PSORS10 A psoriasis that has_material_basis_in variation in a region on chromosome 19p13 that includes BSG. MIM:605364 PSORS6 disease_ontology DOID:0111290 psoriasis 6 DOID:0111290 A psoriasis that has_material_basis_in variation in a region on chromosome 19p13 that includes BSG. url:https://www.ncbi.nlm.nih.gov/pubmed/10986047 PSORS6 A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes RNF114. MIM:612950 PSORS12 disease_ontology DOID:0111291 psoriasis 12 DOID:0111291 A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes RNF114. url:https://www.ncbi.nlm.nih.gov/pubmed/18364390 PSORS12 An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33. disease_ontology DOID:0111292 Moved to a susceptibility, reviewed Feb 2025[LS]. obsolete idiopathic generalized epilepsy 10 true DOID:0111292 An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33. url:https://www.ncbi.nlm.nih.gov/pubmed/15115768 A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24. MIM:609800 GEFS+4 GEFSP4 generalised epilepsy with febrile seizures plus 4 generalised epilepsy with febrile seizures plus type 4 generalized epilepsy with febrile seizures plus type 4 disease_ontology DOID:0111293 generalized epilepsy with febrile seizures plus 4 DOID:0111293 A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24. url:https://www.ncbi.nlm.nih.gov/pubmed/15827091 GEFS+4 GEFSP4 A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3. MIM:604403 GEFS+2 GEFSP2 generalised epilepsy with febrile seizures plus 2 generalised epilepsy with febrile seizures plus type 2 generalized epilepsy with febrile seizures plus type 2 disease_ontology DOID:0111294 generalized epilepsy with febrile seizures plus 2 DOID:0111294 A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10742094 GEFS+2 GEFSP2 A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3. MESH:C567827 MIM:613863 GEFS+7 GEFSP7 generalised epilepsy with febrile seizures plus 7 generalised epilepsy with febrile seizures plus type 7 generalized epilepsy with febrile seizures plus type 7 disease_ontology DOID:0111295 generalized epilepsy with febrile seizures plus 7 DOID:0111295 A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19763161 GEFS+7 GEFSP7 A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12. MIM:618482 GEFS+10 GEFSP10 generalised epilepsy with febrile seizures plus 10 generalised epilepsy with febrile seizures plus type 10 generalized epilepsy with febrile seizures plus type 10 disease_ontology DOID:0111296 generalized epilepsy with febrile seizures plus 10 DOID:0111296 A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12. url:https://www.ncbi.nlm.nih.gov/pubmed/30351409 GEFS+10 GEFSP10 A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance. MIM:PS121210 FEB familial febrile convulsions disease_ontology DOID:0111297 familial febrile seizures DOID:0111297 A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/12429594 FEB A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. MIM:607681 FEB8 familial febrile convulsions 8 disease_ontology DOID:0111298 familial febrile seizures 8 DOID:0111298 A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. url:https://www.ncbi.nlm.nih.gov/pubmed/8730286 FEB8 A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31. MIM:613828 GEFS+8 GEFSP8 generalised epilepsy with febrile seizures plus 8 generalised epilepsy with febrile seizures plus type 8 generalized epilepsy with febrile seizures plus type 8 disease_ontology DOID:0111299 generalized epilepsy with febrile seizures plus 8 DOID:0111299 A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31. url:https://www.ncbi.nlm.nih.gov/pubmed/19841378 GEFS+8 GEFSP8 A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21. MIM:612279 GEFS+6 GEFSP6 generalised epilepsy with febrile seizures plus 6 generalised epilepsy with febrile seizures plus type 6 generalized epilepsy with febrile seizures plus type 6 disease_ontology DOID:0111300 generalized epilepsy with febrile seizures plus 6 DOID:0111300 A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21. url:https://www.ncbi.nlm.nih.gov/pubmed/18625863 GEFS+6 GEFSP6 A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2. MIM:616172 GEFS+9 GEFSP9 generalised epilepsy with febrile seizures plus 9 generalised epilepsy with febrile seizures plus type 9 generalized epilepsy with febrile seizures plus type 9 disease_ontology DOID:0111301 generalized epilepsy with febrile seizures plus 9 DOID:0111301 A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/25362483 GEFS+9 GEFSP9 A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11. MIM:604233 GEFS+1 GEFSP1 generalised epilepsy with febrile seizures plus 1 generalised epilepsy with febrile seizures plus type 1 generalized epilepsy with febrile seizures plus type 1 disease_ontology DOID:0111302 generalized epilepsy with febrile seizures plus 1 DOID:0111302 A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11. url:https://www.ncbi.nlm.nih.gov/pubmed/9697698 GEFS+1 GEFSP1 A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23. MIM:611634 FEB9 familial febrile convulsions 9 disease_ontology DOID:0111303 familial febrile seizures 9 DOID:0111303 A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23. url:https://www.ncbi.nlm.nih.gov/pubmed/17452582 FEB9 A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33. MIM:612637 FEB10 familial febrile convulsions 10 disease_ontology DOID:0111304 familial febrile seizures 10 DOID:0111304 A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33. url:https://www.ncbi.nlm.nih.gov/pubmed/18830713 FEB10 A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3. MIM:604352 FEB4 familial febrile convulsions 4 disease_ontology DOID:0111305 familial febrile seizures 4 DOID:0111305 A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3. url:https://www.ncbi.nlm.nih.gov/pubmed/12402266 FEB4 A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24. MIM:609255 FEB5 familial febrile convulsions 5 disease_ontology DOID:0111306 familial febrile seizures 5 DOID:0111306 A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24. url:https://www.ncbi.nlm.nih.gov/pubmed/12429594 FEB5 A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21. MIM:121210 FEB1 familial febrile convulsions 1 disease_ontology DOID:0111307 familial febrile seizures 1 DOID:0111307 A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21. url:https://www.ncbi.nlm.nih.gov/pubmed/8730286 FEB1 A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2. MIM:614418 FEB11 familial febrile convulsions 11 disease_ontology DOID:0111308 familial febrile seizures 11 DOID:0111308 A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/21922598 FEB11 A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2. MIM:609253 FEB6 familial febrile convulsions 6 disease_ontology DOID:0111309 familial febrile seizures 6 DOID:0111309 A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15557493 FEB6 A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3. MIM:602477 FEB2 familial febrile convulsions 2 disease_ontology DOID:0111310 familial febrile seizures 2 DOID:0111310 A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/9384604 FEB2 A familial febrile seizures that has_material_basis_in heterozygous mutation. MIM:611515 FEB7 familial febrile convulsions 7 disease_ontology DOID:0111311 familial febrile seizures 7 DOID:0111311 A familial febrile seizures that has_material_basis_in heterozygous mutation. url:https://www.ncbi.nlm.nih.gov/pubmed/17054683 FEB7 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1. disease_ontology DOID:0111312 Moved to a susceptibility term, reviewed Feb 2025[LS]. obsolete idiopathic generalized epilepsy 11 true DOID:0111312 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1. url:https://www.ncbi.nlm.nih.gov/pubmed/19710712 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2. MIM:614847 EIG12 disease_ontology DOID:0111313 Moved to a susceptibility, reviewed Feb 2025[LS]. obsolete idiopathic generalized epilepsy 12 true DOID:0111313 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2. url:https://www.ncbi.nlm.nih.gov/pubmed/19798636 EIG12 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34. disease_ontology DOID:0111314 Moved to a susceptibility, reviewed Feb 2025[LS]. obsolete idiopathic generalized epilepsy 13 true DOID:0111314 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34. url:https://www.ncbi.nlm.nih.gov/pubmed/11992121 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12. disease_ontology DOID:0111315 Moved to a susceptibility, reviewed Feb 2025[LS]. obsolete idiopathic generalized epilepsy 14 true DOID:0111315 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12. url:https://www.ncbi.nlm.nih.gov/pubmed/24928908 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13. disease_ontology DOID:0111316 Moved to a susceptibillity, reviewed Feb 2025[LS]. obsolete idiopathic generalized epilepsy 15 true DOID:0111316 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13. url:https://www.ncbi.nlm.nih.gov/pubmed/27352968 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23. disease_ontology DOID:0111317 Moved to a susceptibilty, reviewed Feb 2025[LS]. obsolete idiopathic generalized epilepsy 2 true DOID:0111317 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23. url:https://www.ncbi.nlm.nih.gov/pubmed/10888596 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33. disease_ontology DOID:0111318 Moved to a susceptibility, reviewed Feb 2025[LS]. obsolete idiopathic generalized epilepsy 3 true DOID:0111318 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33. url:https://www.ncbi.nlm.nih.gov/pubmed/15101829 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26. disease_ontology DOID:0111319 Moved to a susceptibility, reviewed Feb 2025[LS]. obsolete idiopathic generalized epilepsy 4 true DOID:0111319 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26. url:https://www.ncbi.nlm.nih.gov/pubmed/16130088 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22. disease_ontology DOID:0111320 Moved to a susceptibility, reviewed Feb 2025[LS]. obsolete idiopathic generalized epilepsy 5 true DOID:0111320 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22. url:https://www.ncbi.nlm.nih.gov/pubmed/18241056 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14. disease_ontology DOID:0111321 Moved to a susceptibility, reviewed Feb 2025[LS] obsolete idiopathic generalized epilepsy 7 true DOID:0111321 An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14. url:https://www.ncbi.nlm.nih.gov/pubmed/9259280 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1. disease_ontology DOID:0111322 Moved to a susceptibility, reviewed Feb 2025[LS]. obsolete idiopathic generalized epilepsy 8 true DOID:0111322 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/18756473 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3. disease_ontology DOID:0111323 Moved to a susceptibility, reviewed Feb 2025[LS]. obsolete idiopathic generalized epilepsy 9 true DOID:0111323 An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10762541 A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2. MIM:607631 EJA1 JAE1 disease_ontology DOID:0111324 juvenile absence epilepsy 1 DOID:0111324 A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/14663045 EJA1 JAE1 A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1. MIM:617924 EJM10 disease_ontology DOID:0111325 juvenile myoclonic epilepsy 10 DOID:0111325 A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/29539279 EJM10 A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21. MIM:608816 EJM3 disease_ontology DOID:0111326 juvenile myoclonic epilepsy 3 DOID:0111326 A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21. url:https://www.ncbi.nlm.nih.gov/pubmed/12830434 EJM3 A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14. MIM:611364 EJM4 disease_ontology DOID:0111327 juvenile myoclonic epilepsy 4 DOID:0111327 A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14. url:https://www.ncbi.nlm.nih.gov/pubmed/17431681 EJM4 A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36. MIM:614280 EJM9 disease_ontology DOID:0111328 juvenile myoclonic epilepsy 9 DOID:0111328 A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36. url:https://www.ncbi.nlm.nih.gov/pubmed/20467754 EJM9 A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32. GARD:10730 MESH:C566449 MIM:610090 ORDO:79096 SNOMEDCT_US_2023_03_01:724576005 UMLS_CUI:C1864723 PNPO deficiency PNPO-related neonatal epileptic encephalopathy pyridoxal 5'-phosphate-dependent epilepsy pyridoxal phosphate-dependent seizures pyridoxal phosphate-responsive seizures pyridoxamine 5'-oxidase deficiency pyridoxamine 5-prime-phosphate oxidase deficiency disease_ontology DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency DOID:0111329 A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32. url:https://www.ncbi.nlm.nih.gov/pubmed/24658933 A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1. MESH:C567125 MIM:611721 ORDO:139406 PSAPD combined SAP deficiency encephalopathy due to prosaposin deficiency disease_ontology DOID:0111330 combined saposin deficiency DOID:0111330 A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11309366 url:https://www.ncbi.nlm.nih.gov/pubmed/1371116 PSAPD A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13. GARD:12501 MIM:613670 ORDO:391372 FOXP1 Haploinsufficiency FOXP1 syndrome FOXP1-Related Neurodevelopmental Disorder Mental retardation with language impairment and with or without autistic features disease_ontology DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome DOID:0111331 A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13. url:https://www.ncbi.nlm.nih.gov/pubmed/24214399 A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3. MIM:614325 PTHSL2 disease_ontology DOID:0111332 Pitt-Hopkins-like syndrome 2 DOID:0111332 A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19896112 url:https://www.ncbi.nlm.nih.gov/pubmed/22617343 PTHSL2 A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2. GARD:12199 MIM:614399 ORDO:439212 EMARDD Myopathy, areflexia, respiratory distress, and dysphagia, early-onset congenital myopathy 10A disease_ontology DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome DOID:0111333 A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2. url:https://www.ncbi.nlm.nih.gov/pubmed/22101682 EMARDD A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. MIM:614962 ORDO:66628 LEPD leptin deficiency or dysfunction obesity due to congenital leptin deficiency disease_ontology DOID:0111334 congenital leptin deficiency DOID:0111334 A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. url:https://www.ncbi.nlm.nih.gov/pubmed/10523015 LEPD A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1. GARD:12978 MIM:615673 ORDO:401768 MPXPS proximal myopathy with extrapyramidal signs disease_ontology DOID:0111335 myopathy with extrapyramidal signs DOID:0111335 A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/24336167 MPXPS A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1. GARD:1571 MESH:C536453 MIM:122880 ORDO:1529 SNOMEDCT_US_2023_03_01:702362004 UMLS_CUI:C1852510 CDHS Sommer-Young-Wee-Frye syndrome disease_ontology DOID:0111336 craniofacial-deafness-hand syndrome DOID:0111336 A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1. url:https://www.ncbi.nlm.nih.gov/pubmed/6859126 url:https://www.ncbi.nlm.nih.gov/pubmed/8664898 CDHS A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13. GARD:6796 MESH:C537559 MIM:123150 NCI:C123814 ORDO:1540 SNOMEDCT_US_2023_03_01:709105005 UMLS_CUI:C0795998 JWS craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome disease_ontology DOID:0111337 Jackson-Weiss syndrome DOID:0111337 A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13. url:https://www.ncbi.nlm.nih.gov/pubmed/1271196 url:https://www.ncbi.nlm.nih.gov/pubmed/7874170 JWS An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3. MIM:123320 elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia disease_ontology DOID:0111338 isolated elevated serum creatine phosphokinase levels DOID:0111338 An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3. url:https://ghr.nlm.nih.gov/condition/isolated-hyperckemia url:https://www.ncbi.nlm.nih.gov/pubmed/10746614 A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. MESH:C536457 MIM:124500 ORDO:3092 ORDO:494 SNOMEDCT_US_2023_03_01:24559001 UMLS_CUI:C0265964 KHM Mutilating keratoderma plus deafness PPK mutilans and deafness VOWNKL congenital deafness with keratopachydermia and constrictions fo fingers and toes keratoderma hereditarium mutilans mutilating keratoderma of Vohwinkel disease_ontology DOID:0111339 Vohwinkel syndrome DOID:0111339 A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. url:https://www.ncbi.nlm.nih.gov/pubmed/10369869 KHM VOWNKL A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. GARD:5243 MIM:125250 SNOMEDCT_US_2023_03_01:715374003 UMLS_CUI:C3276549 DOA+ optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy disease_ontology DOID:0111340 dominant optic atrophy plus syndrome DOID:0111340 A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. url:https://www.ncbi.nlm.nih.gov/pubmed/12566046 url:https://www.ncbi.nlm.nih.gov/pubmed/20157015 DOA+ A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. MESH:C565114 MIM:125350 ORDO:412206 SNOMEDCT_US_2023_03_01:1231153007 UMLS_CUI:C1852222 PFE dental noneruption familial posterior openbite malocclusion nonsyndromic primary failure of eruption primary retention of teeth unerupted second primary molar disease_ontology DOID:0111341 primary failure of tooth eruption DOID:0111341 A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/19061984 url:https://www.ncbi.nlm.nih.gov/pubmed/29544499 PFE An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. GARD:8550 MESH:C535374 MIM:125595 ORDO:86920 SNOMEDCT_US_2023_03_01:239088003 UMLS_CUI:C0406778 DPR disease_ontology DOID:0111342 dermatopathia pigmentosa reticularis DOID:0111342 An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/1303619 url:https://www.ncbi.nlm.nih.gov/pubmed/16960809 DPR A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12. GARD:9873 MESH:C537878 MIM:130720 ORDO:2789 UMLS_CUI:C1851710 Lehman syndrome disease_ontology DOID:0111343 lateral meningocele syndrome DOID:0111343 A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12. url:https://www.ncbi.nlm.nih.gov/pubmed/25394726 A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32. MIM:131440 chronic myeloproliferative disorder with eosinophilia disease_ontology DOID:0111344 myeloproliferative disorder with eosinophilia DOID:0111344 A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32. url:https://www.ncbi.nlm.nih.gov/pubmed/12181402 url:https://www.ncbi.nlm.nih.gov/pubmed/8168137 An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31. GARD:10010 MESH:C536979 MIM:131705 ORDO:79411 SNOMEDCT_US_2023_03_01:723553000 UMLS_CUI:C1851573 DEB, bullous dermolysis of the newborn DEB-BDN disease_ontology DOID:0111345 transient bullous dermolysis of the newborn DOID:0111345 An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/16225626 url:https://www.ncbi.nlm.nih.gov/pubmed/9406826 DEB-BDN An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13. GARD:9737 MESH:C535959 MIM:131960 ORDO:79397 SNOMEDCT_US_2023_03_01:254180002 UMLS_CUI:C0432316 EBSMP Epidermolysis bullosa simplex-MP speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering disease_ontology DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation DOID:0111346 An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13. url:https://www.ncbi.nlm.nih.gov/pubmed/421361 url:https://www.ncbi.nlm.nih.gov/pubmed/8799157 EBSMP An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31. MESH:C562638 MIM:132000 EBD, Bart type epidermolysis bullosa dystrophica, Bart type disease_ontology DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails DOID:0111347 An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/5910871 url:https://www.ncbi.nlm.nih.gov/pubmed/8618021 A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. MESH:C565046 MIM:132450 ORDO:166011 UMLS_CUI:C1851536 EDMMD multiple epiphyseal dysplasia, Beighton type multiple epiphyseal dysplasia-myopia-deafness syndrome disease_ontology DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness DOID:0111348 A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. url:https://www.ncbi.nlm.nih.gov/pubmed/699354 url:https://www.ncbi.nlm.nih.gov/pubmed/9800905 EDMMD A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2. MESH:C535944 MIM:135290 UMLS_CUI:C1851124 FIF familial infiltrative fibromatosis disease_ontology DOID:0111349 hereditary desmoid disease DOID:0111349 A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/10782927 FIF A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3. GARD:155 MESH:C535689 MIM:135750 ORDO:2378 SNOMEDCT_US_2023_03_01:715440003 UMLS_CUI:C1851100 MIPduplication of fibuland ulna with absence of tibia and radius Sandrow syndrome TMIP miccor hands and feet with nasal defects mirror hands and feets-nasal defects syndrome mirror-image polydactyly tetramelic mirror-image polydactyly disease_ontology DOID:0111350 Laurin-Sandrow syndrome DOID:0111350 A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3. url:https://www.ncbi.nlm.nih.gov/pubmed/24456159 url:https://www.ncbi.nlm.nih.gov/pubmed/4314818 TMIP A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3. MIM:600721 D2HGA1 disease_ontology DOID:0111351 D-2-hydroxyglutaric aciduria 1 DOID:0111351 A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15609246 D2HGA1 A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1. MIM:613657 D2HGA2 disease_ontology DOID:0111352 D-2-hydroxyglutaric aciduria 2 DOID:0111352 A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1. url:https://www.ncbi.nlm.nih.gov/pubmed/20847235 D2HGA2 An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1. MIM:208085 ARCS1 disease_ontology DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 DOID:0111353 An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15052268 ARCS1 An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3. MIM:613404 ARCS2 disease_ontology DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 DOID:0111354 An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/20190753 ARCS2 A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2. MESH:C565504 MIM:236680 HLS1 disease_ontology DOID:0111355 hydrolethalus syndrome 1 DOID:0111355 A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15843405 HLS1 A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1. MIM:614120 HLS2 disease_ontology DOID:0111356 hydrolethalus syndrome 2 DOID:0111356 A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1. url:https://www.ncbi.nlm.nih.gov/pubmed/21552264 HLS2 A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3. GARD:12550 MIM:136000 ORDO:289465 ADERM ADG Absence of fingerprints Congenital absence of fingerprints Immigration delay disease Isolated congenital adermatoglyphia disease_ontology DOID:0111357 adermatoglyphia DOID:0111357 A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21820097 ADERM ADG A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2. GARD:6455 MESH:C537062 MIM:136140 NCI:C175241 ORDO:2044 SNOMEDCT_US_2023_03_01:205810007 UMLS_CUI:C0729582 FLHS disease_ontology DOID:0111358 Floating-Harbor syndrome DOID:0111358 A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2. url:https://ghr.nlm.nih.gov/condition/floating-harbor-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/22265015 url:https://www.ncbi.nlm.nih.gov/pubmed/7588969 FLHS A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. GARD:2469 MEDDRA:10072036 MESH:C536819 MIM:137550 NCI:C3944 NCI:C4234 ORDO:626 SNOMEDCT_US_2023_03_01:254815002 SNOMEDCT_US_2023_03_01:84953004 UMLS_CUI:C1318558 UMLS_CUI:C1842036 Congenital pigmented nevus GMN Giant congenital melanocytic nevus Giant pigmented hairy nevus LCMN disease_ontology DOID:0111359 large congenital melanocytic nevus DOID:0111359 A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. url:https://www.ncbi.nlm.nih.gov/pubmed/18671780 url:https://www.ncbi.nlm.nih.gov/pubmed/23392294 GMN LCMN A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33. MIM:137940 HLT-renal defect syndrome HLTRS glomerulonephritis with sparse hair and telangiectases hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome telangiectatic membranoproliferative glomerulonephritis disease_ontology DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome DOID:0111360 A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33. url:https://www.ncbi.nlm.nih.gov/pubmed/24697860 HLTRS A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in the SOX18 gene on chromosome 20q13.33. MESH:C564327 MIM:607823 HLTS disease_ontology DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome DOID:0111361 A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in the SOX18 gene on chromosome 20q13.33. url:https://www.ncbi.nlm.nih.gov/pubmed/12740761 HLTS An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31. GARD:5668 MESH:C535845 MIM:140350 ORDO:2118 SNOMEDCT_US_2023_03_01:403001 UMLS_CUI:C2931042 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-HPPD deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency disease_ontology DOID:0111362 hawkinsinuria DOID:0111362 An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31. url:https://www.ncbi.nlm.nih.gov/pubmed/11073718 A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively. GARD:10718 MIM:140700 disease_ontology DOID:0111363 Heinz body anemia DOID:0111363 A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively. url:https://www.ncbi.nlm.nih.gov/pubmed/14184033 url:https://www.ncbi.nlm.nih.gov/pubmed/3997544 url:https://www.ncbi.nlm.nih.gov/pubmed/8704193 An Alzheimer's disease that has_material_basis_in heterozygous mutation in the ABCA7 gene on chromosome 19p13.3. MIM:608907 AD9 Alzheimer's disease 9, late onset disease_ontology DOID:0111364 Alzheimer's disease 9 DOID:0111364 An Alzheimer's disease that has_material_basis_in heterozygous mutation in the ABCA7 gene on chromosome 19p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21460840 AD9 A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3. MIM:141200 BFH TMN thin basement membrane nephropathy thin membrane nephropathy disease_ontology DOID:0111365 benign familial hematuria DOID:0111365 A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3. url:https://www.ncbi.nlm.nih.gov/pubmed/8787673 BFH TMN A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31. MIM:142330 familial liver cell adenomas disease_ontology DOID:0111366 familial hepatic adenoma DOID:0111366 A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31. url:https://www.ncbi.nlm.nih.gov/pubmed/207987 An osteochondrodysplasia that is characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1. GARD:2690 MESH:C564185 MIM:142669 ORDO:2114 SNOMEDCT_US_2023_03_01:721148005 UMLS_CUI:C1840572 BFHD Beukes familial hip dysplasia Beukes type hip dysplasia Cilliers-Beighton syndrome Premature degenerative osteoarthropathy of the hip disease_ontology DOID:0111367 Beukes hip dysplasia DOID:0111367 An osteochondrodysplasia that is characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1. url:https://www.ncbi.nlm.nih.gov/pubmed/26428751 BFHD A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood. ORDO:79506 CEPT deficiency familial hyperalphalipoproteinemia disease_ontology DOID:0111368 cholesterol-ester transfer protein deficiency DOID:0111368 A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood. url:https://www.ncbi.nlm.nih.gov/pubmed/168823 A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13. MESH:C564591 MIM:143470 NCI:C128806 SNOMEDCT_US_2023_03_01:238080004 UMLS_CUI:C0342883 HALP1 disease_ontology DOID:0111369 hyperalphalipoproteinemia 1 DOID:0111369 A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13. url:https://www.ncbi.nlm.nih.gov/pubmed/2215607 url:https://www.ncbi.nlm.nih.gov/pubmed/6738363 HALP1 A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3. MESH:C566270 MIM:614028 HALP2 hyperalphalipoproteinemia 2 disease_ontology DOID:0111370 apolipoprotein C-III deficiency DOID:0111370 A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/2022742 HALP2 A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2. MIM:143860 ORDO:542657 SNOMEDCT_US_2023_03_01:709413001 UMLS_CUI:C1840437 HYCHL carbonic anhydrase XII deficiency disease_ontology DOID:0111371 isolated hyperchlorhidrosis DOID:0111371 A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2. url:https://ghr.nlm.nih.gov/condition/isolated-hyperchlorhidrosis url:https://www.ncbi.nlm.nih.gov/pubmed/21184099 HYCHL An osteosclerosis characterized by benign and usually asymptomatic osteosclerosis that is not associated with an increased fracture risk and craniofacial anomalies that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.2. disease_ontology DOID:0111372 obsolete autosomal dominant endosteal hyperostosis true DOID:0111372 An osteosclerosis characterized by benign and usually asymptomatic osteosclerosis that is not associated with an increased fracture risk and craniofacial anomalies that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/12579474 url:https://www.ncbi.nlm.nih.gov/pubmed/4942110 A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32. MIM:145250 FPHH MUH melanosis universalis hereditaria disease_ontology DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation DOID:0111373 A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32. url:https://www.ncbi.nlm.nih.gov/pubmed/19375057 url:https://www.ncbi.nlm.nih.gov/pubmed/21368769 FPHH MUH A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2. MESH:C564154 MIM:145650 ORDO:165994 UMLS_CUI:C1840364 PRTH familial hyperthyroidism due to inappropriate thyrotropin secretion pituitary resistance to thyroid hormone selective pituitary resistance to thyroid hormone disease_ontology DOID:0111374 selective pituitary thyroid hormone resistance DOID:0111374 A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2. url:https://www.ncbi.nlm.nih.gov/pubmed/6798060 url:https://www.ncbi.nlm.nih.gov/pubmed/8040303 PRTH A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction. GARD:9634 MESH:C536647 MIM:PS208150 NCI:C129071 ORDO:994 SNOMEDCT_US_2023_03_01:401138005 UMLS_CUI:C1276035 FADS Pena-Shokeir syndrome type 1 arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome fetal akinesia sequence foetal akinesia deformation sequence syndrome foetal akinesia sequence disease_ontology DOID:0111375 fetal akinesia deformation sequence syndrome DOID:0111375 A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction. url:https://www.ncbi.nlm.nih.gov/pubmed/19261599 url:https://www.ncbi.nlm.nih.gov/pubmed/22482962 url:https://www.ncbi.nlm.nih.gov/pubmed/30498368 FADS A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. MIM:618389 FADS3 disease_ontology DOID:0111376 fetal akinesia deformation sequence syndrome 3 DOID:0111376 A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19261599 FADS3 A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3. MIM:208150 FADS1 disease_ontology DOID:0111377 fetal akinesia deformation sequence syndrome 1 DOID:0111377 A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25537362 FADS1 A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2. MIM:618388 FADS2 disease_ontology DOID:0111378 fetal akinesia deformation sequence syndrome 2 DOID:0111378 A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/18179903 FADS2 A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2. MIM:618393 FADS4 disease_ontology DOID:0111379 fetal akinesia deformation sequence syndrome 4 DOID:0111379 A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/30543681 FADS4 A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3. GARD:4877 MIM:147250 SMMCI fused incisors single central maxillary incisor single median maxillary central incisor single upper central incisor disease_ontology DOID:0111380 solitary median maxillary central incisor DOID:0111380 A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11471164 SMMCI A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2. GARD:269 MESH:C535544 MIM:147750 ORDO:2307 SNOMEDCT_US_2023_03_01:722019000 UMLS_CUI:C1327918 Instituto Venezolano de Investigaciones Cientificas syndrome OORS Oculootoradial syndrome oculo-oto-radial syndrome radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia disease_ontology DOID:0111381 IVIC syndrome DOID:0111381 A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17256792 url:https://www.ncbi.nlm.nih.gov/pubmed/7395922 OORS A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2. GARD:3030 MESH:C535540 MESH:C536307 MIM:147891 ORDO:1509 SNOMEDCT_US_2023_03_01:720752007 UMLS_CUI:C1840061 UMLS_CUI:C1868581 SPS Scott-Taor syndrome congenital coxa vara, patella aplasia and tarsal synostosis coxo-podo-patellar syndrome coxopodipatellar syndrome ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension ischiopatellar dysplasia patella aplasia, coxa vara, and tarsal synostosis small patella syndrome disease_ontology DOID:0111382 ischiocoxopodopatellar syndrome DOID:0111382 A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2. url:https://www.ncbi.nlm.nih.gov/pubmed/11303519 url:https://www.ncbi.nlm.nih.gov/pubmed/15106123 SPS A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. GARD:3089 MESH:C537022 MIM:148190 ORDO:2334 SNOMEDCT_US_2023_03_01:715339004 UMLS_CUI:C1835698 hereditary keratitis disease_ontology DOID:0111383 autosomal dominant keratitis DOID:0111383 A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. url:https://www.ncbi.nlm.nih.gov/pubmed/7668281 An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2. MIM:615422 IBMPFD2 MSP2 multisystem proteinopathy 2 disease_ontology DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 DOID:0111384 An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2. url:https://www.ncbi.nlm.nih.gov/pubmed/23455423 IBMPFD2 MSP2 An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3. MIM:167320 IBMPFD1 MSP1 multisystem proteinopathy 1 disease_ontology DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 DOID:0111385 An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15034582 IBMPFD1 MSP1 An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13. MIM:615424 IBMPFD3 MSP3 multisystem proteinopathy 3 disease_ontology DOID:0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 DOID:0111386 An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13. url:https://www.ncbi.nlm.nih.gov/pubmed/23455423 IBMPFD3 MSP3 A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in the GCM2 gene on chromosome 11p15.3. MIM:146200 FIH disease_ontology DOID:0111387 familial isolated hypoparathyroidism DOID:0111387 A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in the GCM2 gene on chromosome 11p15.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11602629 url:https://www.ncbi.nlm.nih.gov/pubmed/2212001 FIH A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3. MIM:307700 HYPX agenesis of parathyroid glands disease_ontology DOID:0111388 X-linked hypoparathyroidism DOID:0111388 A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3. url:https://www.ncbi.nlm.nih.gov/pubmed/14431322 url:https://www.ncbi.nlm.nih.gov/pubmed/9832036 HYPX A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. GARD:12560 ICD10CM:E76.02 MESH:D008059 MIM:607015 NCI:C122782 ORDO:93476 SNOMEDCT_US_2023_03_01:26745009 UMLS_CUI:C0086431 MPS1H/S MPSIH/S Mucopolysaccharidosis type 1H/S disease_ontology DOID:0111389 mucopolysaccharidosis Ih/s DOID:0111389 A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10466419 url:https://www.ncbi.nlm.nih.gov/pubmed/2128891 url:https://www.ncbi.nlm.nih.gov/pubmed/7550242 MPS1H/S MPSIH/S A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. GARD:12559 ICD10CM:E76.01 MESH:D008059 MIM:607014 NCI:C61261 ORDO:93473 SNOMEDCT_US_2023_03_01:65327002 UMLS_CUI:C0086795 Dysostosis multiplex syndrome Hurler disease MPS type 1H Hurler-Pfaundler syndrome L-iduronidase deficiency, Hurler type MPS1-H Mucopolysaccharidosis type I severe form dysostosis multiplex gargoylism disease_ontology DOID:0111390 mucopolysaccharidosis Ih DOID:0111390 A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. url:https://www.ncbi.nlm.nih.gov/pubmed/3124802 url:https://www.ncbi.nlm.nih.gov/pubmed/7550242 MPS1-H A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. GARD:3785 ICD10CM:E76.210 MESH:D009085 MIM:253000 NCI:C84901 ORDO:309297 SNOMEDCT_US_2023_03_01:7259005 UMLS_CUI:C0086651 GALNS deficiency MPS IVA MPS4A Morquio A disease Morquio syndrome A disease_ontology DOID:0111391 mucopolysaccharidosis IVA DOID:0111391 A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/18412124 url:https://www.ncbi.nlm.nih.gov/pubmed/7607677 MPS IVA MPS4A A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3. ICD10CM:E76.211 MESH:D009085 MIM:253010 NCI:C84902 ORDO:309310 SNOMEDCT_US_2023_03_01:254075008 UMLS_CUI:C0086652 MPS IVB MPS4B Morquio disease type B Morquio syndrome B beta-D-galactosidase deficiency mucopolysaccharidosis type IVB (Morquio) disease_ontology DOID:0111392 mucopolysaccharidosis type IVB DOID:0111392 A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/1928092 url:https://www.ncbi.nlm.nih.gov/pubmed/817853 MPS IVB MPS4B A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. GARD:7073 ICD10CM:E76.22 MESH:D009084 MIM:252930 NCI:C84899 ORDO:79271 SNOMEDCT_US_2023_03_01:75238000 UMLS_CUI:C0086649 Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency HGSNAT deficiency Heparan-alpha-glucosaminide N-acetyltransferase deficiency MPS3C MPSIIIC Mucopolysaccharidosis type 3C Sanfilippo syndrome type C mucopolysaccharidosis type IIIC (Sanfilippo C) disease_ontology DOID:0111393 mucopolysaccharidosis type IIIC DOID:0111393 A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16960811 MPS3C MPSIIIC A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2. GARD:7072 ICD10CM:E76.22 MESH:D009084 MIM:252920 NCI:C84898 ORDO:79270 SNOMEDCT_US_2023_03_01:254071004 UMLS_CUI:C0086648 MPS3B MPSIIIB Mucopoly-saccharidosis type 3B Mucopolysaccharidosis type 3B N-acetyl-alpha-glucosaminidase deficiency NAGLU deficiency Sanfilippo syndrome type B mucopolysaccharidosis type IIIB (Sanfilippo B) disease_ontology DOID:0111394 mucopolysaccharidosis type IIIB DOID:0111394 A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15933803 url:https://www.ncbi.nlm.nih.gov/pubmed/8650226 MPS3B MPSIIIB A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3. ICD10CM:E76.22 MESH:D009084 MIM:252900 NCI:C84897 ORDO:79269 SNOMEDCT_US_2023_03_01:254070003 UMLS_CUI:C0086647 MPS3A MPSIIIA Sanfilippo syndrome type A heparan sulfamidase deficiency mucopolysaccharidosis III-A mucopolysaccharidosis type 3A mucopolysaccharidosis type IIIA (Sanfilippo A) disease_ontology DOID:0111395 mucopolysaccharidosis type IIIA DOID:0111395 A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/6796310 url:https://www.ncbi.nlm.nih.gov/pubmed/7493035 MPS3A MPSIIIA A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. GARD:2000 ORDO:98869 CDA I CDA type 1 CDA type I CDA1 Congenital dyserythropoietic anaemia type 1 Congenital dyserythropoietic anemia type 1 congenital dyserythropoietic anaemia type I disease_ontology DOID:0111396 congenital dyserythropoietic anemia type I DOID:0111396 A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. url:https://www.ncbi.nlm.nih.gov/pubmed/16098079 CDA I CDA1 A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the C15ORF41 gene on chromosome 15q14. MESH:D000742 MIM:615631 SNOMEDCT_US_2023_03_01:59548005 UMLS_CUI:C0271933 CDA, type Ib CDAN1B disease_ontology DOID:0111397 congenital dyserythropoietic anemia type Ib DOID:0111397 A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the C15ORF41 gene on chromosome 15q14. url:https://www.ncbi.nlm.nih.gov/pubmed/23716552 CDAN1B A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2. MIM:224120 CDA Ia CDAN1A disease_ontology DOID:0111398 congenital dyserythropoietic anemia type Ia DOID:0111398 A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2. url:https://www.ncbi.nlm.nih.gov/pubmed/12434312 CDA Ia CDAN1A A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow and that has_material_basis_in heterozygous mutation in the KIF23 gene on chromosome 15q23. GARD:2002 MIM:105600 ORDO:98870 SNOMEDCT_US_2023_03_01:26409005 UMLS_CUI:C0271934 CDA III CDA type 3 CDA type III CDAN3 Congenital dyserythropoietic anaemia type 3 Congenital dyserythropoietic anemia type 3 anaemia with multinucleated erythroblasts anemia with multinucleated erythroblasts congenital dyserythropoietic anaemia type III hereditary benign erythroreticulosis disease_ontology DOID:0111399 congenital dyserythropoietic anemia type IIIa DOID:0111399 A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow and that has_material_basis_in heterozygous mutation in the KIF23 gene on chromosome 15q23. url:https://www.ncbi.nlm.nih.gov/pubmed/7711721 CDA III CDAN3 A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13. MIM:613673 NCI:C157148 ORDO:293825 SNOMEDCT_US_2023_03_01:719453009 UMLS_CUI:C3150926 CDA IV CDA due to KLF1 mutation CDA type 4 CDA type IV CDAN4 Congenital dyserythropoietic anaemia due to KLF1 mutation Congenital dyserythropoietic anaemia type 4 Congenital dyserythropoietic anemia due to KLF1 mutation Congenital dyserythropoietic anemia type 4 congenital dyserythropoietic anaemia type IV disease_ontology DOID:0111400 congenital dyserythropoietic anemia type IVa DOID:0111400 A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13. url:https://www.ncbi.nlm.nih.gov/pubmed/21055716 CDA IV CDAN4 A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23. GARD:2001 MESH:D000742 MIM:224100 NCI:C175991 ORDO:98873 SNOMEDCT_US_2023_03_01:68870007 UMLS_CUI:C1306589 CDA II CDA type 2 CDA type II CDAN2 Congenital dyserythropoietic anaemia type 2 Congenital dyserythropoietic anemia type 2 Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) SEC23B-CDG congenital dyserythropoietic anaemia type II disease_ontology DOID:0111401 congenital dyserythropoietic anemia type II DOID:0111401 A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/19561605 CDA II CDAN2 SEC23B-CDG A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. GARD:7074 ICD10CM:E76.22 MESH:D009084 MIM:252940 NCI:C84900 ORDO:79272 SNOMEDCT_US_2023_03_01:15892005 UMLS_CUI:C0086650 GNS deficiency MPS IIID MPS3D Mucopolysaccharidosis type 3D N-acetylglucosamine-6-sulfatase deficiency Sanfilippo syndrome D Sanfilippo syndrome type D disease_ontology DOID:0111402 mucopolysaccharidosis type IIID DOID:0111402 A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. url:https://www.ncbi.nlm.nih.gov/pubmed/12573255 MPS IIID MPS3D A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13. MIM:618273 MCCCHCM disease_ontology DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations DOID:0111403 A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13. url:https://www.ncbi.nlm.nih.gov/pubmed/30449657 MCCCHCM A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2. GARD:1463 MESH:C000596385 MIM:217080 ORDO:1873 SNOMEDCT_US_2023_03_01:707608003 UMLS_CUI:C3495589 Cone rod dystrophy-amelogenesis imperfecta syndrome cone-rod dystrophy and amelogenesis imperfecta disease_ontology DOID:0111404 Jalili syndrome DOID:0111404 A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/19200527 url:https://www.ncbi.nlm.nih.gov/pubmed/3236352 A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21. MIM:219000 FRASRS1 disease_ontology DOID:0111405 Fraser syndrome 1 DOID:0111405 A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21. url:https://www.ncbi.nlm.nih.gov/pubmed/12766769 FRASRS1 A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3. MIM:617667 FRASRS3 disease_ontology DOID:0111406 Fraser syndrome 3 DOID:0111406 A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3. url:https://www.ncbi.nlm.nih.gov/pubmed/22510445 FRASRS3 A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3. MIM:617666 FRASRS2 disease_ontology DOID:0111407 Fraser syndrome 2 DOID:0111407 A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15838507 FRASRS2 An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the TSPAN12 gene on chromosome 7q31.31. MESH:C567648 MIM:613310 EVR5 disease_ontology DOID:0111408 exudative vitreoretinopathy 5 DOID:0111408 An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the TSPAN12 gene on chromosome 7q31.31. url:https://www.ncbi.nlm.nih.gov/pubmed/20159111 EVR5 An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12. MESH:C565297 MIM:605750 EVR3 disease_ontology DOID:0111409 exudative vitreoretinopathy 3 DOID:0111409 An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12. url:https://www.ncbi.nlm.nih.gov/pubmed/11179025 url:https://www.ncbi.nlm.nih.gov/pubmed/15665352 EVR3 An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the ZNF408 gene on chromosome 11p11.2. MIM:616468 EVR6 disease_ontology DOID:0111410 exudative vitreoretinopathy 6 DOID:0111410 An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the ZNF408 gene on chromosome 11p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/23716654 EVR6 An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the LRP5 gene on chromosome 11q13.2. MESH:C566619 MIM:601813 EVR4 disease_ontology DOID:0111411 exudative vitreoretinopathy 4 DOID:0111411 An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the LRP5 gene on chromosome 11q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15024691 EVR4 An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2. MESH:C536382 MIM:133780 EVR1 disease_ontology DOID:0111412 exudative vitreoretinopathy 1 DOID:0111412 An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2. url:https://www.ncbi.nlm.nih.gov/pubmed/12172548 EVR1 An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3. MIM:305390 EVR2 EVRX FEVRX disease_ontology DOID:0111413 X-linked exudative vitreoretinopathy 2 DOID:0111413 An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3. url:https://www.ncbi.nlm.nih.gov/pubmed/8252044 EVR2 EVRX FEVRX A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex. GARD:5258 MESH:C565627 MIM:PS222470 ORDO:84064 SNOMEDCT_US_2023_03_01:703406006 UMLS_CUI:C1857276 SD/THE Syndromic diarrhea/Tricho-hepato-enteric syndrome THES Tricho-hepato-enteric syndrome phenotypic diarrhea syndromic diarrhea disease_ontology DOID:0111414 trichohepatoenteric syndrome DOID:0111414 A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex. url:https://www.ncbi.nlm.nih.gov/pubmed/28944135 SD/THE THES A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TTC37 gene on chromosome 5q15. MIM:222470 THES1 disease_ontology DOID:0111415 trichohepatoenteric syndrome 1 DOID:0111415 A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TTC37 gene on chromosome 5q15. url:https://www.ncbi.nlm.nih.gov/pubmed/20176027 THES1 A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33. MIM:614602 THES2 disease_ontology DOID:0111416 trichohepatoenteric syndrome 2 DOID:0111416 A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33. url:https://www.ncbi.nlm.nih.gov/pubmed/22444670 THES2 A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia. ORDO:444490 disease_ontology DOID:0111417 familial chylomicronemia syndrome DOID:0111417 A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia. url:https://www.ncbi.nlm.nih.gov/pubmed/23525082 A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32. MESH:D008072 MIM:207750 ORDO:309020 SNOMEDCT_US_2023_03_01:33513003 UMLS_CUI:C0268199 UMLS_CUI:C1720779 C-II anapolipoproteinemia familial APOC2 deficiency familial apoC-II deficiency hyperlipoproteinemia, type 1b hyperlipoproteinemia, type Ib disease_ontology DOID:0111418 familial apolipoprotein C-II deficiency DOID:0111418 A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32. url:https://www.ncbi.nlm.nih.gov/pubmed/3467353 A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase. MIM:118830 disease_ontology DOID:0111419 familial chylomicronemia due to inhibition of lipoprotein lipase activity DOID:0111419 A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase. url:https://www.ncbi.nlm.nih.gov/pubmed/6833877 A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3. MIM:615947 ORDO:535458 familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency hyperlipoproteinemia type 1D hyperlipoproteinemia type ID disease_ontology DOID:0111420 familial GPIHBP1 deficiency DOID:0111420 A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17883852 url:https://www.ncbi.nlm.nih.gov/pubmed/23525082 A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3. MIM:144650 ORDO:530849 familial APOA5 deficiency familial apolipoprotein A-V deficiency disease_ontology DOID:0111421 familial apolipoprotein A5 deficiency DOID:0111421 A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/16200213 url:https://www.ncbi.nlm.nih.gov/pubmed/23525082 A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3. MIM:246650 ORDO:535453 LPL and HL deficiency LPL and HTGL deficiency combined lipase deficiency familial LMF1 deficiency lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency disease_ontology DOID:0111422 familial lipase maturation factor 1 deficiency DOID:0111422 A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17994020 url:https://www.ncbi.nlm.nih.gov/pubmed/23525082 A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3. MIM:113650 BOR1 disease_ontology DOID:0111423 branchiootorenal syndrome 1 DOID:0111423 A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/9020840 BOR1 A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32. MIM:610896 BOR2 disease_ontology DOID:0111424 branchiootorenal syndrome 2 DOID:0111424 A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32. url:https://www.ncbi.nlm.nih.gov/pubmed/17357085 BOR2 A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.42. MIM:115210 RCM1 restrictive cardiomyopathy 1 disease_ontology DOID:0111425 familial restrictive cardiomyopathy 1 DOID:0111425 A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.42. url:https://www.ncbi.nlm.nih.gov/pubmed/12531876 RCM1 A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3. MIM:609578 RCM2 restrictive cardiomyopathy 2 disease_ontology DOID:0111426 familial restrictive cardiomyopathy 2 DOID:0111426 A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/16061566 RCM2 A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNT2 gene on chromosome 1q32.1. MIM:612422 RCM3 restrictive cardiomyopathy 3 disease_ontology DOID:0111427 familial restrictive cardiomyopathy 3 DOID:0111427 A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNT2 gene on chromosome 1q32.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16651346 RCM3 An essential tremor that has_material_basis_in heterozygous mutation in the DRD3 gene on chromosome 3q13.31. MIM:190300 ETM1 hereditary essential tremor 1 disease_ontology DOID:0111428 essential tremor 1 DOID:0111428 An essential tremor that has_material_basis_in heterozygous mutation in the DRD3 gene on chromosome 3q13.31. url:https://www.ncbi.nlm.nih.gov/pubmed/16650084 ETM1 An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22. MIM:602134 ETM2 hereditary essential tremor 2 disease_ontology DOID:0111429 essential tremor 2 DOID:0111429 An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22. url:https://www.ncbi.nlm.nih.gov/pubmed/9399207 ETM2 An essential tremor that has_material_basis_in variation in a region on chromosome 6p23. MIM:611456 ETM3 hereditary essential tremor 3 disease_ontology DOID:0111430 essential tremor 3 DOID:0111430 An essential tremor that has_material_basis_in variation in a region on chromosome 6p23. url:https://www.ncbi.nlm.nih.gov/pubmed/16702189 ETM3 An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2. MIM:614782 ETM4 hereditary essential tremor 4 disease_ontology DOID:0111431 essential tremor 4 DOID:0111431 An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/22863194 ETM4 An essential tremor that has_material_basis_in heterozygous mutation in the TENM4 gene on chromosome 11q14.1. MIM:616736 ETM5 hereditary essential tremor 5 disease_ontology DOID:0111432 essential tremor 5 DOID:0111432 An essential tremor that has_material_basis_in heterozygous mutation in the TENM4 gene on chromosome 11q14.1. url:https://www.ncbi.nlm.nih.gov/pubmed/26188006 ETM5 An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32. GARD:10203 MESH:C537128 MIM:165300 ORDO:67036 SNOMEDCT_US_2023_03_01:719517009 UMLS_CUI:C1833809 ADOAC OPA3 autosomal dominant optic atrophy 3 autosomal dominant optic atrophy and cataract autosomal dominant optic atrophy type 3 optic atrophy 3 with cataract disease_ontology DOID:0111433 optic atrophy 3 DOID:0111433 An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32. url:https://www.ncbi.nlm.nih.gov/pubmed/15342707 ADOAC OPA3 An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21. MIM:616732 OPA10 optic atrophy 10 with or without ataxia, mental retardation, and seizures disease_ontology DOID:0111434 optic atrophy 10 DOID:0111434 An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21. url:https://www.ncbi.nlm.nih.gov/pubmed/26593267 OPA10 An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22. MESH:C537127 MIM:258500 OPA6 disease_ontology DOID:0111435 optic atrophy 6 DOID:0111435 An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22. url:https://www.ncbi.nlm.nih.gov/pubmed/14508503 OPA6 An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1. MIM:617302 OPA11 disease_ontology DOID:0111436 optic atrophy 11 DOID:0111436 An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/27495975 OPA11 An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1. MESH:C567833 MIM:612989 OPA7 optic atrophy 7 with or without auditory neuropathy disease_ontology DOID:0111437 optic atrophy 7 DOID:0111437 An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1. url:https://www.ncbi.nlm.nih.gov/pubmed/19327736 OPA7 An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21. MESH:C537126 MIM:610708 OPA5 disease_ontology DOID:0111438 optic atrophy 5 DOID:0111438 An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/28969390 OPA5 An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22. MIM:616648 OPA8 disease_ontology DOID:0111439 optic atrophy 8 DOID:0111439 An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22. url:https://www.ncbi.nlm.nih.gov/pubmed/21349918 OPA8 An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3. MESH:C565343 MIM:605293 OPA4 disease_ontology DOID:0111440 optic atrophy 4 DOID:0111440 An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10369594 OPA4 An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. MIM:165500 OPA1 disease_ontology DOID:0111441 optic atrophy 1 DOID:0111441 An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. url:https://www.ncbi.nlm.nih.gov/pubmed/11017079 url:https://www.ncbi.nlm.nih.gov/pubmed/11017080 url:https://www.ncbi.nlm.nih.gov/pubmed/9514489 OPA1 An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2. MIM:616289 OPA9 disease_ontology DOID:0111442 optic atrophy 9 DOID:0111442 An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/25351951 OPA9 An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21. MIM:311050 OPA2 X-linked optic atrophy 2 disease_ontology DOID:0111443 optic atrophy 2 DOID:0111443 An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/9382106 OPA2 A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1. MESH:D020191 MIM:254900 ORDO:163696 SNOMEDCT_US_2023_03_01:764453009 UMLS_CUI:C0751779 AMRF EPM4 Myoclonus-nephropathy syndrome action myoclonus-renal failure syndrome disease_ontology DOID:0111444 progressive myoclonus epilepsy 4 DOID:0111444 A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15364701 url:https://www.ncbi.nlm.nih.gov/pubmed/19847901 AMRF EPM4 A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21. MIM:616640 ORDO:324290 EPM10 early-onset Lafora body disease disease_ontology DOID:0111445 progressive myoclonus epilepsy 10 DOID:0111445 A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21. url:https://www.ncbi.nlm.nih.gov/pubmed/22961547 EPM10 A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21. GARD:2167 MESH:C567095 MIM:611726 ORDO:263516 SNOMEDCT_US_2023_03_01:783064000 UMLS_CUI:C2673257 CLN14 disease EPM3 PME type 3 Progressive myoclonic epilepsy due to KCTD7 deficiency Progressive myoclonus epilepsy type 3 neuronal ceroid lipofuscinosis 14 disease_ontology DOID:0111446 progressive myoclonus epilepsy 3 DOID:0111446 A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/17455289 url:https://www.ncbi.nlm.nih.gov/pubmed/22748208 EPM3 A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. MIM:616187 NCI:C142804 ORDO:435438 SNOMEDCT_US_2023_03_01:1208939001 UMLS_CUI:C4015420 EPM7 MEAK Myoclonus epilepsy and ataxia due to potassium channel mutation PME type 7 Progressive myoclonic epilepsy due to KV3.1 deficiency Progressive myoclonus epilepsy type 7 disease_ontology DOID:0111447 progressive myoclonus epilepsy 7 DOID:0111447 A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. url:https://www.ncbi.nlm.nih.gov/pubmed/25401298 EPM7 MEAK An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12. MIM:612437 EPM1B disease_ontology DOID:0111448 progressive myoclonus epilepsy 1B DOID:0111448 An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12. url:https://www.ncbi.nlm.nih.gov/pubmed/18976727 EPM1B A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. GARD:3872 MIM:614018 ORDO:280620 EPM6 GOSR2-related progressive myoclonus ataxia North Sea progressive myoclonus epilepsy PME type 6 Progressive myoclonus epilepsy type 6 disease_ontology DOID:0111449 progressive myoclonus epilepsy 6 DOID:0111449 A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. url:https://www.ncbi.nlm.nih.gov/pubmed/21549339 EPM6 A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3. MIM:616540 ORDO:457265 EMP9 PME type 9 progressive myoclonic epilepsy due to LMNB2 deficiency progressive myoclonus epilepsy type 9 disease_ontology DOID:0111450 progressive myoclonus epilepsy 9 DOID:0111450 A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/25954030 EMP9 A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. MIM:616230 ORDO:424027 EMP8 PME type 8 progressive myoclonic epilepsy due to CERS1 deficiency progressive myoclonus epilepsy type 8 disease_ontology DOID:0111451 progressive myoclonus epilepsy 8 DOID:0111451 A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. url:https://www.ncbi.nlm.nih.gov/pubmed/19243074 url:https://www.ncbi.nlm.nih.gov/pubmed/24782409 EMP8 An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. MIM:254800 EPM1A disease_ontology DOID:0111452 progressive myoclonus epilepsy 1A DOID:0111452 An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/8596935 EPM1A An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14. MIM:204750 ORDO:79154 AMOXAD alpha-aminoadipic aciduria disease_ontology DOID:0111453 2-aminoadipic 2-oxoadipic aciduria DOID:0111453 An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14. url:https://www.ncbi.nlm.nih.gov/pubmed/23141293 AMOXAD A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. GARD:7633 MESH:C537327 MIM:269880 ORDO:3163 UMLS_CUI:C0878684 Aarskog-Ose-Pande syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay disease_ontology DOID:0111454 SHORT syndrome DOID:0111454 A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. url:https://ghr.nlm.nih.gov/condition/short-stature-hyperextensibility-hernia-ocular-depression-rieger-anomaly-and-teething-delay url:https://www.ncbi.nlm.nih.gov/pubmed/23810382 A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. GARD:1 MESH:C537934 MIM:603358 ORDO:53693 SNOMEDCT_US_2023_03_01:703388005 UMLS_CUI:C1864002 FLNMS Fellman disease Finnish lactic acidosis with hepatic hemosiderosis Finnish lethal neonatal metabolic syndrome growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death disease_ontology DOID:0111455 GRACILE syndrome DOID:0111455 A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. url:https://www.ncbi.nlm.nih.gov/pubmed/12215968 url:https://www.ncbi.nlm.nih.gov/pubmed/9482441 FLNMS A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11. GARD:3084 MESH:C537013 MIM:244450 ORDO:2707 SNOMEDCT_US_2023_03_01:722056009 UMLS_CUI:C1855663 blepharophimosis ptosis intellectual disability syndrome oculocerebrofacial syndrome, Kaufman type disease_ontology DOID:0111456 Kaufman oculocerebrofacial syndrome DOID:0111456 A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11. url:https://ghr.nlm.nih.gov/condition/kaufman-oculocerebrofacial-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/23200864 An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31. GARD:12357 MIM:615934 ORDO:425120 SAVI disease_ontology DOID:0111457 STING-associated vasculopathy with onset in infancy DOID:0111457 An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31. url:https://www.ncbi.nlm.nih.gov/pubmed/25029335 SAVI A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11. GARD:5392 MESH:D005693 MIM:230350 ORDO:79238 SNOMEDCT_US_2023_03_01:8849004 UMLS_CUI:C0751161 GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactosemia III galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency disease_ontology DOID:0111458 galactose epimerase deficiency DOID:0111458 A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11. url:https://www.ncbi.nlm.nih.gov/pubmed/8593531 url:https://www.ncbi.nlm.nih.gov/pubmed/9700591 GALE-D A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3. GARD:13639 MESH:D005693 MIM:230400 NCI:C99104 ORDO:79239 SNOMEDCT_US_2023_03_01:398664009 UMLS_CUI:C0268151 GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1 disease_ontology DOID:0111459 classic galactosemia DOID:0111459 A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11261429 A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. MIM:115150 CFC1 disease_ontology DOID:0111460 cardiofaciocutaneous syndrome 1 DOID:0111460 A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. url:https://www.ncbi.nlm.nih.gov/pubmed/16474404 CFC1 A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1. MIM:615278 CFC2 disease_ontology DOID:0111461 cardiofaciocutaneous syndrome 2 DOID:0111461 A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16474404 CFC2 A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31. MIM:615279 CFC3 disease_ontology DOID:0111462 cardiofaciocutaneous syndrome 3 DOID:0111462 A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31. url:https://www.ncbi.nlm.nih.gov/pubmed/16439621 CFC3 A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3. MIM:615280 CFC4 disease_ontology DOID:0111463 cardiofaciocutaneous syndrome 4 DOID:0111463 A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/20358587 CFC4 A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2. MIM:617873 COXPD35 disease_ontology DOID:0111464 combined oxidative phosphorylation deficiency 35 DOID:0111464 A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2. url:https://www.ncbi.nlm.nih.gov/pubmed/24901367 url:https://www.ncbi.nlm.nih.gov/pubmed/28185376 COXPD35 A combined oxidative phosphorylation deficiency characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy, and early death or by onset after 6 months of life with a milder course and longer survival that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. MIM:615918 ORDO:420733 COXPD21 disease_ontology DOID:0111465 combined oxidative phosphorylation deficiency 21 DOID:0111465 A combined oxidative phosphorylation deficiency characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy, and early death or by onset after 6 months of life with a milder course and longer survival that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. url:https://pubmed.ncbi.nlm.nih.gov/34508595/ url:https://www.ncbi.nlm.nih.gov/pubmed/24827421 COXPD21 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1. MIM:618378 COXPD38 disease_ontology DOID:0111466 combined oxidative phosphorylation deficiency 38 DOID:0111466 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/30358850 COXPD38 A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1. MIM:614932 COXPD13 disease_ontology DOID:0111467 combined oxidative phosphorylation deficiency 13 DOID:0111467 A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1. url:https://www.ncbi.nlm.nih.gov/pubmed/23084291 COXPD13 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1. MIM:616430 ORDO:447954 COXPD25 disease_ontology DOID:0111468 combined oxidative phosphorylation deficiency 25 DOID:0111468 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1. url:https://www.ncbi.nlm.nih.gov/pubmed/25754315 COXPD25 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1. GARD:12892 MIM:615395 ORDO:352563 COXPD16 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency disease_ontology DOID:0111469 combined oxidative phosphorylation deficiency 16 DOID:0111469 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1. url:https://www.ncbi.nlm.nih.gov/pubmed/23315540 COXPD16 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1. MIM:616794 ORDO:466784 COXPD28 neonatal severe cardiopulmonary failure due to mitochondrial methylation defect disease_ontology DOID:0111470 combined oxidative phosphorylation deficiency 28 DOID:0111470 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1. url:https://www.ncbi.nlm.nih.gov/pubmed/27132592 COXPD28 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3. MIM:616974 ORDO:478042 COXPD30 disease_ontology DOID:0111471 combined oxidative phosphorylation deficiency 30 DOID:0111471 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/27132592 COXPD30 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1. MIM:614582 ORDO:319509 COXPD9 disease_ontology DOID:0111472 combined oxidative phosphorylation deficiency 9 DOID:0111472 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/21786366 COXPD9 A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. MESH:C567126 MIM:611719 ORDO:137908 COXPD5 hypotonia with lactic acidemia and hyperammonemia disease_ontology DOID:0111473 combined oxidative phosphorylation deficiency 5 DOID:0111473 A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. url:https://www.ncbi.nlm.nih.gov/pubmed/17873122 url:https://www.ncbi.nlm.nih.gov/pubmed/21189481 COXPD5 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. MESH:C563797 MIM:609060 NCI:C125663 ORDO:137681 UMLS_CUI:C1836797 COXPD1 early fatal progressive hepatoencephalopathy hepatoencephalopathy due to COXPD1 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 disease_ontology DOID:0111474 combined oxidative phosphorylation deficiency 1 DOID:0111474 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. url:https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency-1 COXPD1 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3. MIM:618397 COXPD39 disease_ontology DOID:0111475 combined oxidative phosphorylation deficiency 39 DOID:0111475 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/22700954 COXPD39 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. MIM:615595 ORDO:397593 COXPD19 severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency disease_ontology DOID:0111476 combined oxidative phosphorylation deficiency 19 DOID:0111476 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/23814038 COXPD19 A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1. MIM:614946 ORDO:319519 COXPD14 disease_ontology DOID:0111477 combined oxidative phosphorylation deficiency 14 DOID:0111477 A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/22499341 url:https://www.ncbi.nlm.nih.gov/pubmed/22833457 COXPD14 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33. MIM:615917 ORDO:420728 COXPD20 disease_ontology DOID:0111478 combined oxidative phosphorylation deficiency 20 DOID:0111478 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33. url:https://www.ncbi.nlm.nih.gov/pubmed/25058219 COXPD20 A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1. MIM:614096 ORDO:319504 COXPD8 disease_ontology DOID:0111479 combined oxidative phosphorylation deficiency 8 DOID:0111479 A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/21549344 COXPD8 A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. MIM:614702 ORDO:314637 COXPD10 infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency disease_ontology DOID:0111480 combined oxidative phosphorylation deficiency 10 DOID:0111480 A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. url:https://www.ncbi.nlm.nih.gov/pubmed/22608499 COXPD10 A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1. MIM:614922 ORDO:324535 COXPD11 infantile encephaloneuromyopathy due to mitochondrial translation defect disease_ontology DOID:0111481 combined oxidative phosphorylation deficiency 11 DOID:0111481 A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/23022099 COXPD11 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3. MIM:617950 COXPD36 disease_ontology DOID:0111482 combined oxidative phosphorylation deficiency 36 DOID:0111482 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3. url:https://www.ncbi.nlm.nih.gov/pubmed/29576219 COXPD36 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2. MESH:C566468 MIM:610498 ORDO:254920 COXPD2 agenesis of corpus callosum with dysmorphism and fatal lactic acidosis disease_ontology DOID:0111483 combined oxidative phosphorylation deficiency 2 DOID:0111483 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15505824 COXPD2 A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11. MIM:615578 ORDO:391348 COXPD18 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome disease_ontology DOID:0111484 combined oxidative phosphorylation deficiency 18 DOID:0111484 A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11. url:https://www.ncbi.nlm.nih.gov/pubmed/24119684 COXPD18 A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. MIM:616239 ORDO:444458 COXPD24 disease_ontology DOID:0111485 combined oxidative phosphorylation deficiency 24 DOID:0111485 A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. url:https://www.ncbi.nlm.nih.gov/pubmed/25385316 url:https://www.ncbi.nlm.nih.gov/pubmed/25629079 url:https://www.ncbi.nlm.nih.gov/pubmed/28077841 COXPD24 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1. MESH:C566467 MIM:610505 ORDO:168566 UMLS_CUI:C1864840 COXPD3 Fatal mitochondrial disease due to COXPD3 concentric cardiomyopathy, hypotonia, and lactic acidosis encephalomyopathy, respiratory failure, and lactic acidosis fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 disease_ontology DOID:0111486 combined oxidative phosphorylation deficiency 3 DOID:0111486 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17033963 url:https://www.ncbi.nlm.nih.gov/pubmed/25037205 COXPD3 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. MIM:613559 ORDO:254930 COXPD7 severe C12ORF65-related COXPD severe C12ORF65-related combined oxidative phosphorylation defect disease_ontology DOID:0111487 combined oxidative phosphorylation deficiency 7 DOID:0111487 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. url:https://www.ncbi.nlm.nih.gov/pubmed/20598281 COXPD7 A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12. MIM:617228 ORDO:478049 COXPD31 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome disease_ontology DOID:0111488 combined oxidative phosphorylation deficiency 31 DOID:0111488 A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12. url:https://www.ncbi.nlm.nih.gov/pubmed/27799064 COXPD31 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34. MIM:616672 ORDO:477774 COXPD27 disease_ontology DOID:0111489 combined oxidative phosphorylation deficiency 27 DOID:0111489 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34. url:https://www.ncbi.nlm.nih.gov/pubmed/25361775 url:https://www.ncbi.nlm.nih.gov/pubmed/25787132 COXPD27 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1. MIM:616539 ORDO:477684 COXPD26 disease_ontology DOID:0111490 combined oxidative phosphorylation deficiency 26 DOID:0111490 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1. url:https://www.ncbi.nlm.nih.gov/pubmed/26189817 COXPD26 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31. MIM:614947 ORDO:319524 COXPD15 disease_ontology DOID:0111491 combined oxidative phosphorylation deficiency 15 DOID:0111491 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31. url:https://www.ncbi.nlm.nih.gov/pubmed/21907147 COXPD15 A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3. MIM:617664 COXPD32 disease_ontology DOID:0111492 combined oxidative phosphorylation deficiency 32 DOID:0111492 A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/28777931 COXPD32 A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2. GARD:13381 MIM:614924 ORDO:314051 COXPD12 LTBL leukoencephalopathy with thalamus and brainstem involvement and high lactate leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome disease_ontology DOID:0111493 combined oxidative phosphorylation deficiency 12 DOID:0111493 A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2. url:https://www.ncbi.nlm.nih.gov/pubmed/22492562 url:https://www.ncbi.nlm.nih.gov/pubmed/23008233 COXPD12 LTBL A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2. MESH:C565690 MIM:610678 ORDO:254925 SNOMEDCT_US_2023_03_01:766876004 UMLS_CUI:C1857682 COXPD4 disease_ontology DOID:0111494 combined oxidative phosphorylation deficiency 4 DOID:0111494 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17160893 COXPD4 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2. MIM:617713 COXPD33 disease_ontology DOID:0111495 combined oxidative phosphorylation deficiency 33 DOID:0111495 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/28942965 COXPD33 A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. MIM:615440 ORDO:369913 COXPD17 disease_ontology DOID:0111496 combined oxidative phosphorylation deficiency 17 DOID:0111496 A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. url:https://www.ncbi.nlm.nih.gov/pubmed/23849775 COXPD17 A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. MIM:617872 ORDO:457223 COXPD34 syndromic sensorineural deafness due to COXPD syndromic sensorineural deafness due to combined oxidative phosphorylation defect syndromic sensorineural hearing loss due to COXPD disease_ontology DOID:0111497 combined oxidative phosphorylation deficiency 34 DOID:0111497 A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/25556185 COXPD34 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1. MIM:616045 COXPD22 disease_ontology DOID:0111498 combined oxidative phosphorylation deficiency 22 DOID:0111498 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/23596069 COXPD22 A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3. MIM:618329 COXPD37 disease_ontology DOID:0111499 combined oxidative phosphorylation deficiency 37 DOID:0111499 A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/27485409 COXPD37 A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11. MIM:616198 ORDO:444013 COXPD23 disease_ontology DOID:0111500 combined oxidative phosphorylation deficiency 23 DOID:0111500 A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11. url:https://www.ncbi.nlm.nih.gov/pubmed/25434004 COXPD23 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3. MIM:616811 COXPD29 disease_ontology DOID:0111501 combined oxidative phosphorylation deficiency 29 DOID:0111501 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/26626369 COXPD29 A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. MIM:300816 ORDO:238329 COXPD6 Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 severe X-linked mitochondrial encephalomyopathy disease_ontology DOID:0111502 combined oxidative phosphorylation deficiency 6 DOID:0111502 A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. url:https://www.ncbi.nlm.nih.gov/pubmed/20362274 COXPD6 A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1. MIM:151623 LFS1 disease_ontology DOID:0111503 Li-Fraumeni syndrome 1 DOID:0111503 A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/1978757 LFS1 A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1. MESH:C563755 MIM:609265 LFS2 disease_ontology DOID:0111504 Li-Fraumeni syndrome 2 DOID:0111504 A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11479205 LFS2 A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. GARD:3094 MESH:C536152 MIM:148350 ORDO:2202 SNOMEDCT_US_2023_03_01:722203001 UMLS_CUI:C1835672 PPK-deafness syndrome keratoderma palmoplantar deafness palmoplantar hyperkeratosis-deafness syndrome palmoplantar hyperkeratosis-hearing loss syndrome palmoplantar keratoderma with deafness palmoplantar keratoderma-hearing loss syndrome disease_ontology DOID:0111505 palmoplantar keratoderma-deafness syndrome DOID:0111505 A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. url:https://www.ncbi.nlm.nih.gov/pubmed/10633135 url:https://www.ncbi.nlm.nih.gov/pubmed/1532426 A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. GARD:3102 MESH:C536164 MIM:148500 ORDO:2198 UMLS_CUI:C1835664 Bennion-Patterson syndrome Howell-Evans syndrome TOC keratosis palmaris et plantaris with esophageal cancer keratosis palmoplantaris-esophageal carcinoma syndrome palmoplantar hyperkeratosis-esophageal carcinoma syndrome palmoplantar keratoderma with esophageal cancer tylosis with esophageal cancer tylosis-oesophageal carcinoma syndrome disease_ontology DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome DOID:0111506 A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/13579162 url:https://www.ncbi.nlm.nih.gov/pubmed/22265016 TOC A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1. GARD:3223 MESH:C537115 MIM:151050 ORDO:2658 SNOMEDCT_US_2023_03_01:1393001 UMLS_CUI:C0432269 Lenz-Majewski syndrome disease_ontology DOID:0111507 Lenz-Majewski hyperostotic dwarfism DOID:0111507 A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/24241535 An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. GARD:4382 MESH:C563627 MIM:151210 ORDO:85166 UMLS_CUI:C1835437 PLSD-T PLSDT lethal short-limbed platyspondylic dwarfism, Torrance type platyspondylic dysplasia, Torrance-Luton type platyspondylic lethal skeletal dysplasia, Torrance type thanatophoric dysplasia, Torrance variant disease_ontology DOID:0111508 Torrance type platyspondylic dysplasia DOID:0111508 An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. url:https://www.ncbi.nlm.nih.gov/pubmed/14729840 url:https://www.ncbi.nlm.nih.gov/pubmed/448481 PLSD-T PLSDT A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1. GARD:333 MESH:C537710 MIM:153400 NCI:C128191 ORDO:33001 SNOMEDCT_US_2023_03_01:8634009 UMLS_CUI:C0265345 LPHDST lymphedema with distichiasis disease_ontology DOID:0111509 lymphedema-distichiasis syndrome DOID:0111509 A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11078474 LPHDST An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome. GARD:6984 MESH:C536025 MIM:154780 NCI:C128115 ORDO:560 SNOMEDCT_US_2023_03_01:33410002 UMLS_CUI:C0265235 MRSHS deafness, myopia, cataract, saddle nose-Marshall type disease_ontology DOID:0111510 Marshall syndrome DOID:0111510 An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome. url:https://www.ncbi.nlm.nih.gov/pubmed/13520885 url:https://www.ncbi.nlm.nih.gov/pubmed/25073711 url:https://www.ncbi.nlm.nih.gov/pubmed/9529347 MRSHS A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3. GARD:8468 MESH:C536149 MIM:155755 NCI:C176905 ORDO:252206 SNOMEDCT_US_2023_03_01:717968005 UMLS_CUI:C1835042 melanoma-astrocytoma syndrome disease_ontology DOID:0111511 melanoma and neural system tumor syndrome DOID:0111511 A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10797439 url:https://www.ncbi.nlm.nih.gov/pubmed/8414022 url:https://www.ncbi.nlm.nih.gov/pubmed/8635060 An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13. GARD:3560 MESH:C562938 MIM:156250 ORDO:2499 SNOMEDCT_US_2023_03_01:205481009 UMLS_CUI:C0410530 METCDS disease_ontology DOID:0111512 metachondromatosis DOID:0111512 An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13. url:https://www.ncbi.nlm.nih.gov/pubmed/20577567 METCDS An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1. GARD:3568 MIM:156510 ORDO:2504 metaphyseal dysplasia maxillary hypoplasia brachydactyly metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly disease_ontology DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome DOID:0111513 An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/23290074 url:https://www.ncbi.nlm.nih.gov/pubmed/7137223 A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. GARD:3571 MESH:C537356 MIM:156530 NCI:C175209 ORDO:2635 SNOMEDCT_US_2023_03_01:22764001 UMLS_CUI:C0265281 metatropic dwarfism disease_ontology DOID:0111514 metatropic dysplasia DOID:0111514 A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. url:https://ghr.nlm.nih.gov/condition/metatropic-dysplasia url:https://www.ncbi.nlm.nih.gov/pubmed/18348257 url:https://www.ncbi.nlm.nih.gov/pubmed/4963592 A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3. MIM:616479 ORDO:329336 PEOB2 adult-onset CPEO with mitochondrial myopathy adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy autosomal recessive progressive external ophthalmoplegia 2 disease_ontology DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 DOID:0111515 A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/26094573 PEOB2 A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. MIM:617070 ORDO:329314 PEOB4 adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency autosomal recessive progressive external ophthalmoplegia 4 disease_ontology DOID:0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 DOID:0111516 A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/23043144 PEOB4 A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1. MIM:609283 PEOA2 autosomal dominant progressive external ophthalmoplegia 2 disease_ontology DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 DOID:0111517 A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1. url:https://www.ncbi.nlm.nih.gov/pubmed/10926541 PEOA2 A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3. MIM:613077 PEOA5 autosomal dominant progressive external ophthalmoplegia 5 disease_ontology DOID:0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 DOID:0111518 A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19664747 PEOA5 A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. MIM:615156 ORDO:352470 DNA2-related mitochondrial DNA deletion syndrome PEOA6 autosomal dominant progressive external ophthalmoplegia 6 mitochondrial DNA deletion syndrome with limb-girdle weakness mitochondrial DNA deletion syndrome with progressive myopathy mtDNA deletion syndrome with limb-girdle weakness mtDNA deletion syndrome with progressive myopathy disease_ontology DOID:0111519 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 DOID:0111519 A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/23352259 PEOA6 A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31. MIM:609286 PEOA3 autosomal dominant progressive external ophthalmoplegia 3 disease_ontology DOID:0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 DOID:0111520 A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31. url:https://www.ncbi.nlm.nih.gov/pubmed/11431692 PEOA3 A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1. MIM:157640 PEOA1 disease_ontology DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 DOID:0111521 A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11431686 PEOA1 A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1. MIM:258450 PEOB1 disease_ontology DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 DOID:0111522 A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11431686 PEOB1 A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21. MIM:617069 PEOB3 autosomal recessive progressive external ophthalmoplegia 3 disease_ontology DOID:0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 DOID:0111523 A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21. url:https://www.ncbi.nlm.nih.gov/pubmed/21937588 PEOB3 A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2. MIM:618098 PEOB5 autosomal recessive progressive external ophthalmoplegia 5 disease_ontology DOID:0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 DOID:0111524 A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/29290614 PEOB5 A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3. MIM:610131 PEOA4 autosomal dominant progressive external ophthalmoplegia 4 disease_ontology DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 DOID:0111525 A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/16685652 PEOA4 A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12. MESH:C567186 MIM:158330 NCI:C120376 ORDO:247768 UMLS_CUI:C2675014 Mullerian duct failure and hyperandrogenism WNT4 deficiency disease_ontology DOID:0111526 Mullerian aplasia and hyperandrogenism DOID:0111526 A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12. url:https://www.ncbi.nlm.nih.gov/pubmed/15317892 A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. GARD:3044 GARD:3875 MESH:C537563 MIM:159950 ORDO:2590 SNOMEDCT_US_2023_03_01:703524005 UMLS_CUI:C1834569 Jankovic-Rivera syndrome SMA-PME SMAPME hereditary myoclonus-progressive distal muscular atrophy syndrome disease_ontology DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy DOID:0111527 A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy url:https://www.ncbi.nlm.nih.gov/pubmed/22703880 SMA-PME SMAPME A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. GARD:3912 MESH:C538331 MIM:161000 ORDO:69087 SNOMEDCT_US_2023_03_01:239084001 UMLS_CUI:C0343111 NFJ syndrome Naegeli syndrome disease_ontology DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome DOID:0111528 A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. url:https://ghr.nlm.nih.gov/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis url:https://www.ncbi.nlm.nih.gov/pubmed/16960809 A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover. GARD:3986 MESH:C535816 MIM:163000 ORDO:624 SNOMEDCT_US_2023_03_01:763714006 UMLS_CUI:C2931029 CMC congenital capillary malformations familial multiple port-wine stains disease_ontology DOID:0111529 familial multiple nevi flammei DOID:0111529 A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover. url:https://www.ncbi.nlm.nih.gov/pubmed/16846771 url:https://www.ncbi.nlm.nih.gov/pubmed/6716409 CMC A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. GARD:10291 MIM:163200 ORDO:2612 SNOMEDCT_US_2023_03_01:707136009 UMLS_CUI:C3854181 JNP Jadassohn nevus phakomatosis SFM syndrome Schimmelpenning Feuerstein Mims syndrome Schimmelpenning syndrome Solomon syndrome nevus sebaceus of Jadassohn nevus sebaceus syndrome organoid nevus phakomatosis organoid nevus syndrome disease_ontology DOID:0111530 linear nevus sebaceous syndrome DOID:0111530 A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. url:https://www.ncbi.nlm.nih.gov/pubmed/17366580 url:https://www.ncbi.nlm.nih.gov/pubmed/1918493 url:https://www.ncbi.nlm.nih.gov/pubmed/22683711 url:https://www.ncbi.nlm.nih.gov/pubmed/24006476 JNP An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. GARD:8419 ICD10CM:H47.03 ICD9CM:377.43 MESH:D000080344 MIM:165550 NCI:C98999 ORDO:137902 SNOMEDCT_US_2023_03_01:95499004 UMLS_CUI:C0338502 ONH familial bilateral optic nerve hypoplasia isolated optic nerve hypoplasia/aplasia disease_ontology DOID:0111531 bilateral optic nerve hypoplasia DOID:0111531 An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. url:https://www.ncbi.nlm.nih.gov/pubmed/12721955 ONH An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23. GARD:4142 MESH:C536050 MIM:166250 ORDO:2645 SNOMEDCT_US_2023_03_01:254144002 UMLS_CUI:C0432283 Fairbank-Keats syndrome OGD osteoglophonic dwarfism disease_ontology DOID:0111532 osteoglophonic dysplasia DOID:0111532 An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23. url:https://ghr.nlm.nih.gov/condition/osteoglophonic-dysplasia url:https://www.ncbi.nlm.nih.gov/pubmed/15625620 url:https://www.ncbi.nlm.nih.gov/pubmed/7422392 OGD An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3. GARD:8698 MESH:C536039 MIM:166260 ORDO:53697 SNOMEDCT_US_2023_03_01:715568002 UMLS_CUI:C1833736 GDD Levin syndrome 2 gnathodiaphyseal sclerosis osteogenesis imperfecta with unusual skeletal lesions osteogenesis imperfecta, Levin type disease_ontology DOID:0111533 gnathodiaphyseal dysplasia DOID:0111533 An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3. url:https://ghr.nlm.nih.gov/condition/gnathodiaphyseal-dysplasia url:https://www.ncbi.nlm.nih.gov/pubmed/15124103 url:https://www.ncbi.nlm.nih.gov/pubmed/23047743 GDD A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. GARD:3818 MESH:C567171 MIM:166300 NCI:C178416 ORDO:2774 SNOMEDCT_US_2023_03_01:766992008 UMLS_CUI:C2674705 MCTO autosomal dominant multicentric osteolysis hereditary osteolysis of carpal bones with or without nephropathy idiopathic multicentric osteolysis with or without nephropathy multicentric carpo-tarsal osteolysis with or without nephropathy multicentric osteolysis nephropathy disease_ontology DOID:0111534 multicentric carpotarsal osteolysis syndrome DOID:0111534 A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. url:https://www.ncbi.nlm.nih.gov/pubmed/22387013 url:https://www.ncbi.nlm.nih.gov/pubmed/3041835 MCTO A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32. GARD:109 MEDDRA:10048902 MESH:C562735 MIM:166350 NCI:C132062 ORDO:2762 SNOMEDCT_US_2023_03_01:404074003 UMLS_CUI:C0334041 POH ectopic ossification familial type familial ectopic ossification osteoma cutis disease_ontology DOID:0111535 progressive osseous heteroplasia DOID:0111535 A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32. url:https://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia url:https://www.ncbi.nlm.nih.gov/pubmed/11784876 url:https://www.ncbi.nlm.nih.gov/pubmed/8126048 POH A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3. GARD:1044 MESH:C537415 MIM:166700 ORDO:1306 SNOMEDCT_US_2023_03_01:60399005 UMLS_CUI:C0265514 BOS dermatofibrosis lenticularis disseminata with osteopoikilosis dermatoosteopoikilosis disseminated dermatofibrosis with osteopoikilosis osteopathia condensans disseminata disease_ontology DOID:0111536 Buschke-Ollendorff syndrome DOID:0111536 A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3. url:https://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/15489854 url:https://www.ncbi.nlm.nih.gov/pubmed/19438932 BOS An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3. GARD:12854 MESH:C563475 MIM:167400 NCI:C125385 ORDO:46348 SNOMEDCT_US_2023_03_01:699190008 UMLS_CUI:C1833661 PEPD PEXPD familial rectal pain submandibular, ocular and rectal pain with flushing disease_ontology DOID:0111537 paroxysmal extreme pain disorder DOID:0111537 An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3. url:https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder url:https://www.ncbi.nlm.nih.gov/pubmed/17145499 PEPD PEXPD A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3. GARD:7325 ICD10CM:G71.19 MESH:D020967 MIM:168300 NCI:C122790 ORDO:684 SNOMEDCT_US_2023_03_01:41574007 UMLS_CUI:C0221055 Eulenburg disease PMC Von Eulenburg paramyotonia congenita myotonia congenita intermittens paralysis periodica paramyotonica paramyotonia congenita disease_ontology DOID:0111538 paramyotonia congenita of Von Eulenburg DOID:0111538 A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3. url:https://ghr.nlm.nih.gov/condition/paramyotonia-congenita url:https://www.ncbi.nlm.nih.gov/pubmed/1316765 PMC An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. GARD:4222 MESH:C537172 MIM:168400 ORDO:2646 SNOMEDCT_US_2023_03_01:722210007 UMLS_CUI:C1868616 parastremmatic dysplasia disease_ontology DOID:0111539 parastremmatic dwarfism DOID:0111539 An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. url:https://www.ncbi.nlm.nih.gov/pubmed/20503319 url:https://www.ncbi.nlm.nih.gov/pubmed/4992387 An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11. GARD:7473 MESH:D056732 MIM:170100 NCI:C85029 ORDO:742 SNOMEDCT_US_2023_03_01:360994007 UMLS_CUI:C0268532 hyperimidodipeptiduria imidodipeptidase deficiency peptidase deficiency disease_ontology DOID:0111540 prolidase deficiency DOID:0111540 An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11. url:https://ghr.nlm.nih.gov/condition/prolidase-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/18340504 url:https://www.ncbi.nlm.nih.gov/pubmed/1972707 An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3. MESH:C566801 MIM:172870 ORDO:251295 SNOMEDCT_US_2023_03_01:723450004 UMLS_CUI:C1868310 PPRCA disease_ontology DOID:0111541 pigmented paravenous chorioretinal atrophy DOID:0111541 An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15623792 url:https://www.ncbi.nlm.nih.gov/pubmed/3778279 PPRCA A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33. GARD:9168 MESH:C536335 MIM:174810 ORDO:85195 SNOMEDCT_US_2023_03_01:254153009 UMLS_CUI:C0432292 FEO McCabe disease hereditary expansile polyostotic osteolytic dysplasia disease_ontology DOID:0111542 familial expansile osteolysis DOID:0111542 A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33. url:https://www.ncbi.nlm.nih.gov/pubmed/10615125 url:https://www.ncbi.nlm.nih.gov/pubmed/12362049 url:https://www.ncbi.nlm.nih.gov/pubmed/17447113 FEO A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2. MIM:175050 JP-HHT disease_ontology DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome DOID:0111543 A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15031030 url:https://www.ncbi.nlm.nih.gov/pubmed/20101697 JP-HHT A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2. GARD:4470 MESH:C538278 MIM:176305 ORDO:2957 SNOMEDCT_US_2023_03_01:722452004 UMLS_CUI:C1867801 autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias preaxial deficiency-postaxial polydactyly-hypospadias syndrome disease_ontology DOID:0111544 Guttmacher syndrome DOID:0111544 A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2. url:https://www.ncbi.nlm.nih.gov/pubmed/11968094 url:https://www.ncbi.nlm.nih.gov/pubmed/8484413 An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in the LHCGR gene on chromosome 2p16.3. GARD:4475 MESH:C536961 MESH:D011629 MIM:176410 ORDO:3000 SNOMEDCT_US_2023_03_01:237818003 UMLS_CUI:C0342549 UMLS_CUI:C1504412 FMPP familial gonadotropin-independent male-limited sexual precocity male-limited precocious puberty testotoxicosis disease_ontology DOID:0111545 familial male-limited precocious puberty DOID:0111545 An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in the LHCGR gene on chromosome 2p16.3. url:https://ghr.nlm.nih.gov/condition/familial-male-limited-precocious-puberty url:https://www.ncbi.nlm.nih.gov/pubmed/7692306 FMPP A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3. GARD:1626 MESH:C536221 MIM:176450 ORDO:1552 SNOMEDCT_US_2023_03_01:413936007 UMLS_CUI:C1531773 Currarino triad disease_ontology DOID:0111546 Currarino syndrome DOID:0111546 A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3. url:https://www.ncbi.nlm.nih.gov/pubmed/6789651 url:https://www.ncbi.nlm.nih.gov/pubmed/9843207 An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34. MIM:180000 ORDO:75326 RATOR retinal arteriolar tortuosity retinal hemorrhage with vascular tortuosity tortuosity of retinal arteries disease_ontology DOID:0111547 retinal arterial tortuosity DOID:0111547 An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34. url:https://www.ncbi.nlm.nih.gov/pubmed/12745002 url:https://www.ncbi.nlm.nih.gov/pubmed/25228067 RATOR A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. GARD:9696 MESH:C535684 MIM:180550 ORDO:91481 SNOMEDCT_US_2023_03_01:723499000 UMLS_CUI:C1867155 RDC ring dermoid syndrome disease_ontology DOID:0111548 ring dermoid of cornea DOID:0111548 A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. url:https://www.ncbi.nlm.nih.gov/pubmed/15591271 url:https://www.ncbi.nlm.nih.gov/pubmed/7387508 RDC A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. ICD9CM:750.21 MESH:C562407 MIM:180920 ORDO:86815 SNOMEDCT_US_2023_03_01:715656004 UMLS_CUI:C0158667 ALSG congenital absence of lacrimal puncta and salivary glands disease_ontology DOID:0111549 aplasia of lacrimal and salivary glands DOID:0111549 A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. url:https://www.ncbi.nlm.nih.gov/pubmed/15654336 ALSG An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11.2. GARD:159 MESH:C536623 MIM:181270 ORDO:2036 SNOMEDCT_US_2023_03_01:721888002 UMLS_CUI:C1867020 Finlay-Marks syndrome SENS Sen Syndrome hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples disease_ontology DOID:0111550 scalp-ear-nipple syndrome DOID:0111550 An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11.2. url:https://ghr.nlm.nih.gov/condition/scalp-ear-nipple-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/23541344 SENS A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35. GARD:10312 MESH:C566695 MIM:181400 ORDO:85146 SNOMEDCT_US_2023_03_01:1208615009 UMLS_CUI:C1867005 Kaeser syndrome Stark-Kaeser syndrome scapuloperoneal syndrome type Kaeser scapuloperoneal syndrome, neurogenic, Kaeser type disease_ontology DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type DOID:0111551 A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35. url:https://www.ncbi.nlm.nih.gov/pubmed/17439987 A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. GARD:10314 ICD10CM:G12.1 MESH:D009134 MIM:181405 ORDO:431255 SNOMEDCT_US_2023_03_01:230248006 UMLS_CUI:C0751335 SPSMA neurogenic scapuloperoneal amyotrophy, New England type scapuloperoneal neuronopathy disease_ontology DOID:0111552 scapuloperoneal spinal muscular atrophy DOID:0111552 A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. url:https://www.ncbi.nlm.nih.gov/pubmed/1520078 url:https://www.ncbi.nlm.nih.gov/pubmed/20037587 SPSMA An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. GARD:994 MIM:184095 ORDO:263482 SNOMEDCT_US_2023_03_01:719204007 UMLS_CUI:C3159322 Brachyolmia Type 2 Pseudo-Morquio syndrome type 2 SED, Maroteaux type spondyloepiphyseal dysplasia of Maroteaux disease_ontology DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type DOID:0111553 An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. url:https://www.ncbi.nlm.nih.gov/pubmed/20503319 url:https://www.ncbi.nlm.nih.gov/pubmed/2229114 A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. GARD:3047 MESH:C535797 MIM:184252 ORDO:93314 SNOMEDCT_US_2023_03_01:254077000 UMLS_CUI:C0265280 Jequier Kozlowski skeletal dysplasia Jequier-Kozlowski syndrome SMD Kozlowski type dysmorphism arthrogryposis skeletal maturation advanced skeletal dysplasia Jequier-Kozlowski type disease_ontology DOID:0111554 spondylometaphyseal dysplasia Kozlowski type DOID:0111554 A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. url:https://www.ncbi.nlm.nih.gov/pubmed/19232556 A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 gene on chromosome 4q27. MIM:617822 ALKKUCS disease_ontology DOID:0111555 Alkuraya-Kucinskas syndrome DOID:0111555 A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 gene on chromosome 4q27. url:https://www.ncbi.nlm.nih.gov/pubmed/25558065 url:https://www.ncbi.nlm.nih.gov/pubmed/29290337 ALKKUCS A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in the KRT17 gene on chromosome 17q21.2. GARD:5003 MESH:D062685 MIM:184500 ORDO:841 multiple sebaceous cysts sebocystomatosis disease_ontology DOID:0111556 steatocystoma multiplex DOID:0111556 A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in the KRT17 gene on chromosome 17q21.2. url:https://ghr.nlm.nih.gov/condition/steatocystoma-multiplex url:https://www.ncbi.nlm.nih.gov/pubmed/18098741 url:https://www.ncbi.nlm.nih.gov/pubmed/9008238 A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22. MIM:617087 ORDO:90118 AR-CMT2, Ouvrier type CMT2A2B Charcot-Marie-Tooth disease, axonal, type 2A2B SEOAN due to MFN2 deficiency autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type severe early-onset axonal neuropathy due to MFN2 deficiency disease_ontology DOID:0111557 Charcot-Marie-Tooth disease type 2A2B DOID:0111557 A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22. url:https://www.ncbi.nlm.nih.gov/pubmed/21715711 CMT2A2B A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1. MIM:618036 ORDO:521414 ATP1A1-related CMT2 ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 CMT2DD Charcot-Marie-Tooth disease, axonal, type 2DD Charcot-Marie-Tooth neuropathy, type 2DD disease_ontology DOID:0111558 Charcot-Marie-Tooth disease type 2DD DOID:0111558 A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/29499166 CMT2DD A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3. MIM:618400 CMT2EE Charcot-Marie-Tooth disease, axonal, type 2EE disease_ontology DOID:0111559 Charcot-Marie-Tooth disease type 2EE DOID:0111559 A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/26437932 url:https://www.ncbi.nlm.nih.gov/pubmed/30298599 CMT2EE A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13. MIM:618279 ORDO:476394 CMT1G PMP2-related CMT1 PMP2-related Charcot-Marie-Tooth disease type 1 PMP2-related Charcot-Marie-Tooth neuropathy type 1 PMP2-related hereditary motor and sensory neuropathy type 1 disease_ontology DOID:0111560 Charcot-Marie-Tooth disease type 1G DOID:0111560 A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13. url:https://www.ncbi.nlm.nih.gov/pubmed/26828946 url:https://www.ncbi.nlm.nih.gov/pubmed/27009151 CMT1G A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1. GARD:5025 MESH:C566112 MIM:184900 NCI:C118636 ORDO:2833 SNOMEDCT_US_2023_03_01:765187004 UMLS_CUI:C1861456 SSKS disease_ontology DOID:0111561 stiff skin syndrome DOID:0111561 A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/20375004 SSKS A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3. GARD:4183 MIM:185000 ORDO:3203 OHS potassium sodium disorder of erythrocyte stomatocytosisIOHST disease_ontology DOID:0111562 overhydrated hereditary stomatocytosis DOID:0111562 A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/18931342 url:https://www.ncbi.nlm.nih.gov/pubmed/21849667 OHS A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2. GARD:7706 ICD10CM:Q85.89 MESH:D013341 MIM:185300 NCI:C3391 ORDO:3205 SNOMEDCT_US_2023_03_01:157030004 UMLS_CUI:C0038505 SWS Sturge-Weber-Dimitri syndrome Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Krabbe syndrome encephalofacial angiomatosis encephalotrigeminal angiomatosis fourth phacomatosis leptomeningeal angiomatosis meningeal capillary angiomatosis disease_ontology DOID:0111563 Sturge-Weber syndrome DOID:0111563 A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2. url:https://ghr.nlm.nih.gov/condition/sturge-weber-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/15165630 url:https://www.ncbi.nlm.nih.gov/pubmed/23656586 SWS A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3. GARD:8309 MESH:C535564 MIM:188740 ORDO:3332 ORDO:988 UMLS_CUI:C1861099 Werner mesomelic syndrome absence of tibia with polydactyly absent tibia-polydactyly syndrome hypoplastic tibiae-postaxial polydactyly syndrome tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome disease_ontology DOID:0111564 hypoplastic or aplastic tibia with polydactyly DOID:0111564 A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19847792 A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in the DLX3 gene on chromosome 17q21.33. GARD:7799 MESH:C536549 MIM:190320 ORDO:3352 SNOMEDCT_US_2023_03_01:38993008 UMLS_CUI:C0265333 TDO syndrome tricho-dento-osseous syndrome disease_ontology DOID:0111565 trichodontoosseous syndrome DOID:0111565 A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in the DLX3 gene on chromosome 17q21.33. url:https://www.ncbi.nlm.nih.gov/pubmed/22671030 An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21. MIM:190330 ORDO:411788 TCMGLY long eyelashes disease_ontology DOID:0111566 familial isolated trichomegaly DOID:0111566 An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21. url:https://www.ncbi.nlm.nih.gov/pubmed/24989505 TCMGLY A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31. GARD:1217 MESH:C566007 MIM:192315 ORDO:247691 SNOMEDCT_US_2023_03_01:783787000 UMLS_CUI:C1860518 CRV RVCL RVCL-S hereditary cerebroretinal vasculopathy retinal vasculopathy and cerebral leukoencephalopathy retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena disease_ontology DOID:0111567 retinal vasculopathy with cerebral leukodystrophy DOID:0111567 A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/17660820 CRV RVCL RVCL-S A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in the HOXD10 gene on chromosome 2q31.1. GARD:5488 MEDDRA:10066242 MESH:D005413 MIM:192950 ORDO:178382 SNOMEDCT_US_2023_03_01:205359003 UMLS_CUI:C0240912 CVT congenital convex foot congenital convex pes valgus congenital rocker-bottom foot rocker-bottom foot deformity disease_ontology DOID:0111568 congenital vertical talus DOID:0111568 A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in the HOXD10 gene on chromosome 2q31.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15368082 CVT A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3. GARD:5507 MESH:C536352 MIM:193220 ORDO:3086 SNOMEDCT_US_2023_03_01:711162004 UMLS_CUI:C3888099 ADVIRC VRCP autosomal dominant vitreoretinochoroidopathy dominant vitreoretinochoroidopathy with microcornea, glaucoma, and cataract vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos disease_ontology DOID:0111569 autosomal dominant vitreoretinochoroidopathy DOID:0111569 A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15452077 url:https://www.ncbi.nlm.nih.gov/pubmed/7065944 ADVIRC An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1. GARD:9706 MESH:C536677 MIM:193230 ORDO:91496 UMLS_CUI:C1860405 SVD vitreoretinal degeneration, snowflake type disease_ontology DOID:0111570 snowflake vitreoretinal degeneration DOID:0111570 An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1. url:https://www.ncbi.nlm.nih.gov/pubmed/18179896 url:https://www.ncbi.nlm.nih.gov/pubmed/4812083 SVD An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2. GARD:497 MESH:C536695 MIM:193530 ORDO:952 SNOMEDCT_US_2023_03_01:277807007 UMLS_CUI:C0457013 Curry-Hall syndrome WAD Weyers acrodental dysostosis acrofacial dysostosis, Weyers type disease_ontology DOID:0111571 Weyers acrofacial dysostosis DOID:0111571 An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2. url:https://ghr.nlm.nih.gov/condition/weyers-acrofacial-dysostosis url:https://www.ncbi.nlm.nih.gov/pubmed/10700184 url:https://www.ncbi.nlm.nih.gov/pubmed/16404586 url:https://www.ncbi.nlm.nih.gov/pubmed/9399901 WAD A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends. GARD:5597 ORDO:170 familial wooly hair syndrome hereditary woolly hair syndrome hereditary wooly hair syndrome woolly hair wooly hair disease_ontology DOID:0111572 familial woolly hair syndrome DOID:0111572 A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends. url:https://www.ncbi.nlm.nih.gov/pubmed/19365138 A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in the KRT74 gene on chromosome 12q13.13. MIM:194300 SNOMEDCT_US_2022_07_31:403794008 ADWH disease_ontology DOID:0111573 autosomal dominant woolly hair DOID:0111573 A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in the KRT74 gene on chromosome 12q13.13. url:https://www.ncbi.nlm.nih.gov/pubmed/20346438 ADWH A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2. MIM:616760 ARWH3 disease_ontology DOID:0111574 autosomal recessive woolly hair 3 DOID:0111574 A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/26160856 ARWH3 A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes. GARD:5623 MESH:C536764 ORDO:3202 SNOMEDCT_US_2023_03_01:87994004 UMLS_CUI:C0272051 hereditary desiccytosis hereditary xerocytosis disease_ontology DOID:0111575 dehydrated hereditary stomatocytosis DOID:0111575 A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes. url:https://www.ncbi.nlm.nih.gov/pubmed/22529292 A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3. MIM:194380 PSHK1 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema pseudohyperkalemia edinburgh pseudohyperkalemia familial 1, due to red cell leak disease_ontology DOID:0111576 dehydrated hereditary stomatocytosis 1 DOID:0111576 A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/22529292 PSHK1 A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31. MIM:616689 desiccytosis Gardos xerocytosis Gardos disease_ontology DOID:0111577 dehydrated hereditary stomatocytosis 2 DOID:0111577 A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31. url:https://www.ncbi.nlm.nih.gov/pubmed/26148990 A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1. GARD:13 MESH:C536370 MIM:206700 ORDO:1065 SNOMEDCT_US_2023_03_01:253176002 UMLS_CUI:C0431401 GLSP aniridia, cerebellar ataxia and mental deficiency aniridia-cerebellar ataxia-intellectual disability syndrome disease_ontology DOID:0111578 Gillespie syndrome DOID:0111578 A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1. url:https://www.ncbi.nlm.nih.gov/pubmed/27108797 url:https://www.ncbi.nlm.nih.gov/pubmed/27108798 GLSP A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps. MESH:C565935 MIM:208550 ASA triad disease_ontology DOID:0111579 asthma, nasal polyps, and aspirin intolerance DOID:0111579 A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps. url:https://www.ncbi.nlm.nih.gov/pubmed/15496426 url:https://www.ncbi.nlm.nih.gov/pubmed/15806396 url:https://www.ncbi.nlm.nih.gov/pubmed/9393345 A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29. GARD:849 MESH:C537669 MIM:210000 NCI:C177251 SNOMEDCT_US_2023_03_01:66988006 UMLS_CUI:C0221061 Abortive cerebellar ataxia (BEHRS) BEHRS optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss optic atrophy, infantile hereditary, Behr complicated form of disease_ontology DOID:0111580 Behr syndrome DOID:0111580 A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29. url:https://www.ncbi.nlm.nih.gov/pubmed/6747661 BEHRS A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2. GARD:5978 MESH:C537418 MIM:211750 ORDO:1308 SNOMEDCT_US_2023_03_01:715409005 UMLS_CUI:C0796095 OTCS Opitz C trigonocephaly Opitz trigonocephaly C syndrome Opitz trigonocephaly syndrome trigonocephaly C syndrome disease_ontology DOID:0111581 C syndrome DOID:0111581 A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17847009 OTCS A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3. GARD:10762 MIM:211800 ORDO:289601 CALJA arterial calcification and distal joint calcification arterial calcification due to CD73 deficiency arterial calcification due to deficiency of CD73 calcification of joints and arteries disease_ontology DOID:0111582 hereditary arterial and articular multiple calcification syndrome DOID:0111582 A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3. url:https://www.ncbi.nlm.nih.gov/pubmed/21288095 CALJA A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2. MESH:C562876 MIM:212070 NCI:C132196 SNOMEDCT_US_2023_03_01:234627009 UMLS_CUI:C0398782 anaphylotoxin inactivator deficiency deficiency of carboxypeptidase B disease_ontology DOID:0111583 carboxypeptidase N deficiency DOID:0111583 A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2. url:https://www.ncbi.nlm.nih.gov/pubmed/12560874 url:https://www.ncbi.nlm.nih.gov/pubmed/7437116 A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. GARD:3373 MESH:C535580 MESH:C535703 MIM:212112 NCI:C174217 ORDO:2229 SNOMEDCT_US_2023_03_01:719451006 UMLS_CUI:C0796031 UMLS_CUI:C0796083 Malouf syndrome Najjar syndrome cardiogenital syndrome cardiomyopathy eith primary testicular failure congestive cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with premature ovarian failure genital anomaly with cardiomyopathy disease_ontology DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome DOID:0111584 A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. url:https://www.ncbi.nlm.nih.gov/pubmed/12927431 url:https://www.ncbi.nlm.nih.gov/pubmed/19283854 A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31. GARD:1123 MESH:C562812 MIM:212138 NCI:C133086 ORDO:159 SNOMEDCT_US_2023_03_01:238003000 UMLS_CUI:C0342791 CACT deficiency CACTD disease_ontology DOID:0111585 carnitine-acylcarnitine translocase deficiency DOID:0111585 A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31. url:https://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/15363639 url:https://www.ncbi.nlm.nih.gov/pubmed/9399886 CACTD A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. GARD:3406 MESH:C536028 MIM:212720 ORDO:1387 SNOMEDCT_US_2023_03_01:722380003 UMLS_CUI:C0796037 cataract-intellectual disability-hypogonadism syndrome disease_ontology DOID:0111586 Martsolf syndrome DOID:0111586 A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. url:https://ghr.nlm.nih.gov/condition/rab18-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/16532399 url:https://www.ncbi.nlm.nih.gov/pubmed/677168 An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1. MESH:C565870 MIM:212840 ORDO:1173 SNOMEDCT_US_2023_03_01:230240004 UMLS_CUI:C1859305 CAHH GDHS LHRH deficiency and ataxia cerebellar ataxia-hypogonadism syndrome luteinizing hormone-releasing hormone deficiency with ataxia disease_ontology DOID:0111587 Gordon Holmes syndrome DOID:0111587 An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1. url:https://ghr.nlm.nih.gov/condition/gordon-holmes-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/23656588 url:https://www.ncbi.nlm.nih.gov/pubmed/25841028 CAHH GDHS An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12. GARD:8754 MESH:C535858 MIM:215140 ORDO:1426 SNOMEDCT_US_2023_03_01:389261002 UMLS_CUI:C2931048 GRBGD Greenberg skeletal dysplasia HEM dysplasia Skeletal dysplasia, Greenberg type autosomal recessive lethal chondrodystrophy with congenital hydrops hydrops, ectopic calcification, moth-eaten skeletal dysplasia hydrops-ectopic calcification-motheaten syndrome disease_ontology DOID:0111588 Greenberg dysplasia DOID:0111588 An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12. url:https://ghr.nlm.nih.gov/condition/greenberg-dysplasia url:https://www.ncbi.nlm.nih.gov/pubmed/18382993 GRBGD A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L). GARD:1410 MESH:C536430 MIM:216360 ORDO:1454 SNOMEDCT_US_2023_03_01:721847002 UMLS_CUI:C1857662 Gentile syndrome JS-H Joubert syndrome with congenital hepatic fibrosis Joubert syndrome with hepatic defect cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis disease_ontology DOID:0111589 COACH syndrome DOID:0111589 A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L). url:https://www.ncbi.nlm.nih.gov/pubmed/19574260 JS-H A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2. GARD:6126 MEDDRA:10049066 MESH:C536438 MIM:216550 ORDO:193 SNOMEDCT_US_2023_03_01:56604005 UMLS_CUI:C0265223 COH1 Hypotonia, obesity, and prominent incisors Pepper syndrome disease_ontology DOID:0111590 Cohen syndrome DOID:0111590 A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2. url:https://ghr.nlm.nih.gov/condition/cohen-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/12730828 url:https://www.ncbi.nlm.nih.gov/pubmed/24334764 COH1 A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15. GARD:4166 MESH:C535849 MIM:217085 ORDO:1338 SNOMEDCT_US_2023_03_01:783738002 UMLS_CUI:C2931046 CHDTHP Ostravik-Lindemann-Solberg syndrome heart defect-tongue hamartoma-polysyndactyly syndrome disease_ontology DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly DOID:0111591 A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15. url:https://www.ncbi.nlm.nih.gov/pubmed/1516223 url:https://www.ncbi.nlm.nih.gov/pubmed/25427950 CHDTHP A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26. GARD:4380 ICD10CM:E88.02 MESH:C566897 MESH:C580017 MIM:217090 ORDO:722 SNOMEDCT_US_2023_03_01:95840007 SNOMEDCT_US_2023_03_01:95844003 UMLS_CUI:C0398621 UMLS_CUI:C1968804 hypoplasminogenemia disease_ontology DOID:0111592 plasminogen deficiency type I DOID:0111592 A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26. url:https://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/12850227 url:https://www.ncbi.nlm.nih.gov/pubmed/16849641 url:https://www.ncbi.nlm.nih.gov/pubmed/9242524 A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1. MESH:C566069 MIM:187370 ORDO:251515 DA10 plantar flexion contracture short Achilles tendon short tendo calcaneus disease_ontology DOID:0111593 distal arthrogryposis type 10 DOID:0111593 A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17103435 DA10 A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1. MIM:615065 ORDO:329457 SNOMEDCT_US_2021_09_01:773396009 DA5D distal arthrogryposis type 5 without ophthalmoparesis distal arthrogryposis type 5 without ophthalmoplegia disease_ontology DOID:0111594 distal arthrogryposis type 5D DOID:0111594 A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1. url:https://www.ncbi.nlm.nih.gov/pubmed/23261301 DA5D A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3. MESH:C536211 MIM:121050 NCI:C129865 ORDO:115 SNOMEDCT_US_2023_03_01:205821003 UMLS_CUI:C0220668 Beals syndrome Beals-Hecht syndrome CCA arachnodactyly, contractural Beals type contractures, multiple with arachnodactyly distal arthrogryposis type 9 ear anomalies-contractures-dysplasia of bone with kyphoscoliosis disease_ontology DOID:0111595 congenital contractural arachnodactyly DOID:0111595 A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/4552107 url:https://www.ncbi.nlm.nih.gov/pubmed/9106527 url:https://www.ncbi.nlm.nih.gov/pubmed/9714438 CCA A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies. GARD:787 MESH:C565097 MIM:126050 ORDO:1146 SNOMEDCT_US_2021_09_01:715314008 DA1 digitotalar dysmorphism disease_ontology DOID:0111596 distal arthrogryposis type 1 DOID:0111596 A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies. url:https://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1 url:https://www.ncbi.nlm.nih.gov/pubmed/19571066 url:https://www.ncbi.nlm.nih.gov/pubmed/7039311 url:https://www.ncbi.nlm.nih.gov/pubmed/8923936 DA1 A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3. MESH:C535378 MIM:108120 DA1A disease_ontology DOID:0111597 distal arthrogryposis type 1A DOID:0111597 A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/12592607 DA1A A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2. MIM:614335 DA1B disease_ontology DOID:0111598 distal arthrogryposis type 1B DOID:0111598 A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2. url:https://www.ncbi.nlm.nih.gov/pubmed/20045868 DA1B A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. MESH:C538400 ORDO:1147 SNOMEDCT_US_2021_09_01:715216008 DA2B Freeman-Sheldon syndrome variant Sheldon-Hall syndrome disease_ontology DOID:0111599 distal arthrogryposis type 2B DOID:0111599 A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. url:https://www.ncbi.nlm.nih.gov/pubmed/19571066 url:https://www.ncbi.nlm.nih.gov/pubmed/9012416 DA2B A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5. MIM:601680 DA2B1 disease_ontology DOID:0111600 distal arthrogryposis type 2B1 DOID:0111600 A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5. url:https://www.ncbi.nlm.nih.gov/pubmed/12592607 DA2B1 A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5. MIM:618435 DA2B2 disease_ontology DOID:0111601 distal arthrogryposis type 2B2 DOID:0111601 A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5. url:https://www.ncbi.nlm.nih.gov/pubmed/12865991 DA2B2 A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. MIM:618436 DA2B3 distal arthrogryposis type 2B3 (Sheldon-Hall) disease_ontology DOID:0111602 distal arthrogryposis type 2B3 DOID:0111602 A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16642020 DA2B3 A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1. GARD:2621 MESH:C535857 MIM:121070 MIM:158300 ORDO:3377 DA7 Dutch-Kentucky syndrome Hecht syndrome Hecht-Beals syndrome mouth, inability to completely open, and short finger-flexor tendons trismus-pseudocamptodactyly syndrome disease_ontology DOID:0111603 distal arthrogryposis type 7 DOID:0111603 A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15282353 DA7 A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. ICD10CM:Q87.0 MESH:C535483 MIM:193700 NCI:C98931 ORDO:2053 SNOMEDCT_US_2021_09_01:52616002 craniocarpotarsal dysplasia craniocarpotarsal dystrophy whistling face syndrome whistling face-windmill vane hand syndrome disease_ontology DOID:0111604 Freeman-Sheldon syndrome DOID:0111604 A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. url:https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/19571066 url:https://www.ncbi.nlm.nih.gov/pubmed/21032118 A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. MIM:193700 DA2A distal arthrogryposis type 2A (Freeman-Sheldon) disease_ontology DOID:0111605 distal arthrogryposis type 2A DOID:0111605 A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16642020 url:https://www.ncbi.nlm.nih.gov/pubmed/19571066 DA2A A Freeman-Sheldon syndrome that has autosomal recessive inheritance. GARD:100024 MIM:277720 disease_ontology DOID:0111606 autosomal recessive Whistling face syndrome DOID:0111606 A Freeman-Sheldon syndrome that has autosomal recessive inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/20964128 A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. GARD:2553 MESH:C537288 MIM:114300 ORDO:376 SNOMEDCT_US_2021_09_01:897570002 DA3 Gordon syndrome camptodactyly-cleft palate-clubfoot syndrome distal arthrogryposis multiplex congenita type IIA disease_ontology DOID:0111607 distal arthrogryposis type 3 DOID:0111607 A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/19571066 url:https://www.ncbi.nlm.nih.gov/pubmed/24726473 DA3 A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. GARD:4047 MESH:C537737 MIM:108145 SNOMEDCT_US_2021_09_01:715217004 DA5 DAIIB arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome distal arthrogryposis type IIB distal arthrogryposis with ophthalmoplegia oculomelic amyoplasia disease_ontology DOID:0111608 distal arthrogryposis type 5 DOID:0111608 A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/19571066 url:https://www.ncbi.nlm.nih.gov/pubmed/23487782 DA5 DAIIB A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness. GARD:784 MESH:C535386 MIM:108200 ORDO:1144 SNOMEDCT_US_2021_09_01:720515009 DA6 arthrogryposis and sensorineural deafness arthrogryposis-like hand anomaly-sensorineural deafness syndrome familial hand abnormality and sensori-neural deafness disease_ontology DOID:0111609 distal arthrogryposis type 6 DOID:0111609 A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness. url:https://www.ncbi.nlm.nih.gov/pubmed/19571066 url:https://www.ncbi.nlm.nih.gov/pubmed/5539065 DA6 A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis. MESH:C563791 MIM:609128 ORDO:65720 SNOMEDCT_US_2021_09_01:715575001 DA4 DAIID arthrogryposis-severe scoliosis syndrome distal arthrogryposis type IID disease_ontology DOID:0111610 distal arthrogryposis type 4 DOID:0111610 A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis. url:https://www.ncbi.nlm.nih.gov/pubmed/19571066 url:https://www.ncbi.nlm.nih.gov/pubmed/7039311 DA4 DAIID An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21. GARD:4952 MESH:C537310 MIM:607317 ORDO:95434 UMLS_CUI:C1846492 SCA24 SCAR4 SCASI autosomal recessive cerebellar ataxia-saccadic intrusion syndrome spinocerebellar ataxia 24 spinocerebellar ataxia with saccadic intrusions disease_ontology DOID:0111611 autosomal recessive spinocerebellar ataxia 4 DOID:0111611 An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21. url:https://www.ncbi.nlm.nih.gov/pubmed/29604224 SCA24 SCAR4 SCASI An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. GARD:9971 MESH:C537309 MIM:271250 ORDO:95433 SNOMEDCT_US_2023_03_01:1204415006 UMLS_CUI:C1849094 SCABD SCAR3 autosomal recessive spinocerebellar ataxia type 3 autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome disease_ontology DOID:0111612 autosomal recessive spinocerebellar ataxia 3 DOID:0111612 An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. url:https://www.ncbi.nlm.nih.gov/pubmed/11175288 url:https://www.ncbi.nlm.nih.gov/pubmed/4154794 url:https://www.ncbi.nlm.nih.gov/pubmed/4434170 SCABD SCAR3 An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3. MIM:616949 ORDO:404493 SCAR23 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency disease_ontology DOID:0111613 autosomal recessive spinocerebellar ataxia 23 DOID:0111613 An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/24658003 SCAR23 An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2. MIM:616948 SCAR22 disease_ontology DOID:0111614 autosomal recessive spinocerebellar ataxia 22 DOID:0111614 An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/26157035 SCAR22 An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1. MIM:617133 SCAR24 disease_ontology DOID:0111615 autosomal recessive spinocerebellar ataxia 24 DOID:0111615 An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/26872069 SCAR24 An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12. MIM:618369 SCAR27 disease_ontology DOID:0111616 autosomal recessive spinocerebellar ataxia 27 DOID:0111616 An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12. url:https://www.ncbi.nlm.nih.gov/pubmed/30084953 SCAR27 An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13. GARD:4954 MESH:C537312 MIM:608029 ORDO:284332 SNOMEDCT_US_2023_03_01:785300001 UMLS_CUI:C1842676 SCAR6 autosomal recessive spinocerebellar ataxia type 6 infantile-onset autosomal recessive nonprogressive cerebellar ataxia disease_ontology DOID:0111617 autosomal recessive spinocerebellar ataxia 6 DOID:0111617 An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13. url:https://www.ncbi.nlm.nih.gov/pubmed/12811539 url:https://www.ncbi.nlm.nih.gov/pubmed/4003033 SCAR6 An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. GARD:12234 MESH:C565188 MIM:610743 ORDO:88644 UMLS_CUI:C1853116 ARCA1 Autosomal recessive cerebellar ataxia type 1 SCAR8 SYNE1-related autosomal recessive cerebellar ataxia autosomal recessive ataxia, Beauce type recessive ataxia of Beauce disease_ontology DOID:0111618 autosomal recessive spinocerebellar ataxia 8 DOID:0111618 An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17159980 url:https://www.ncbi.nlm.nih.gov/pubmed/27086870 ARCA1 SCAR8 A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21. MIM:615182 ORDO:356978 SNOMEDCT_US_2023_03_01:713401006 UMLS_CUI:C5574940 D,L-2-HGA D,L-2-hydroxyglutaric acidemia D,L-2-hydroxyglutaric aciduria combined D,L-2-hydroxyglutaric aciduria combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria disease_ontology DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria DOID:0111619 A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21. url:https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria url:https://www.ncbi.nlm.nih.gov/pubmed/10963100 url:https://www.ncbi.nlm.nih.gov/pubmed/23561848 A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13. GARD:1529 MESH:C535473 MIM:217400 ORDO:1490 SNOMEDCT_US_2023_03_01:720749004 UMLS_CUI:C1857572 CDPD CDPD1 Harboyan syndrome corneal dystrophy and perceptive deafness corneal dystrophy with progressive deafness corneal endothelial dystrophy and perceptive deafness disease_ontology DOID:0111620 corneal dystrophy-perceptive deafness syndrome DOID:0111620 A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13. url:https://www.ncbi.nlm.nih.gov/pubmed/17220209 url:https://www.ncbi.nlm.nih.gov/pubmed/5312820 CDPD CDPD1 A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. GARD:5688 MESH:C536959 MIM:218340 NCI:C148371 ORDO:1777 SNOMEDCT_US_2023_03_01:719947004 UMLS_CUI:C1857512 Temtamy-Shalash syndrome craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome dysmorphism, corpus callosum agenesis and colobomas disease_ontology DOID:0111621 Temtamy syndrome DOID:0111621 A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. url:https://www.ncbi.nlm.nih.gov/pubmed/23453666 A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol. GARD:10824 ORDO:189427 SNOMEDCT_US_2023_03_01:720459002 UMLS_CUI:C2062388 ACTH-independent macronodular adrenocortical hyperplasia AIMAH Cushing syndrome due to macronodular adrenal hyperplasia MMAD adrenocorticotropic hormone-independent macronodular adrenal hyperplasia corticotropin-independent macronodular adrenal hyperplasia massive macronodular adrenocortical disease primary macronodular adrenal hyperplasia disease_ontology DOID:0111622 ACTH-independent macronodular adrenal hyperplasia DOID:0111622 A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol. url:https://ghr.nlm.nih.gov/condition/primary-macronodular-adrenal-hyperplasia url:https://www.ncbi.nlm.nih.gov/pubmed/16215323 AIMAH MMAD An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. MIM:219080 AIMAH1 disease_ontology DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 DOID:0111623 An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. url:https://www.ncbi.nlm.nih.gov/pubmed/12727968 AIMAH1 An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2. MIM:615954 AIMAH2 disease_ontology DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 DOID:0111624 An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/24283224 AIMAH2 A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the CRB2 gene on chromosome 9q33.3. MESH:C565657 MIM:219730 ORDO:443988 SNOMEDCT_US_2023_03_01:1216942009 UMLS_CUI:C1857423 VMCKD congenital nephrosis-cerebral ventriculomegaly syndrome cystic kidney disease with ventriculomegaly ventriculomegaly with cystic kidney disease disease_ontology DOID:0111625 ventriculomegaly - cystic kidney disease DOID:0111625 A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the CRB2 gene on chromosome 9q33.3. url:https://www.ncbi.nlm.nih.gov/pubmed/2478019 url:https://www.ncbi.nlm.nih.gov/pubmed/25557780 VMCKD An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2. GARD:234 ICD10CM:E72.59 MESH:C535767 MIM:220120 ORDO:941 UMLS_CUI:C1291386 D-glycerate kinase deficiency D-glyceric acidemia D-glycericacidemia deficiency of glycerate kinase non ketotic hyperglycinemia syndrome disease_ontology DOID:0111626 D-glyceric aciduria DOID:0111626 An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/20949620 A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. GARD:1685 MESH:C538204 MIM:220500 ORDO:79500 UMLS_CUI:C0795927 DOOR syndrome DOORS autosomal recessive deafness-onychodystrophy syndrome deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome deafness-onychoosteodystrophy-intellectual disability syndrome disease_ontology DOID:0111627 DOORS syndrome DOID:0111627 A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. url:https://ghr.nlm.nih.gov/condition/doors-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/1132883 url:https://www.ncbi.nlm.nih.gov/pubmed/24291220 DOORS A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1. GARD:12844 MIM:221200 ORDO:363396 DFNMYP deafness and myopia deafness and myopia syndrome disease_ontology DOID:0111628 high myopia-sensorineural deafness syndrome DOID:0111628 A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1. url:https://ghr.nlm.nih.gov/condition/deafness-and-myopia-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/23543054 DFNMYP A pyrimidine metabolic disorder characterized by a defect in the degradation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the DPYS gene on chromosome 8q22.3. GARD:12347 MESH:C562815 MIM:222748 ORDO:38874 SNOMEDCT_US_2023_03_01:238014002 UMLS_CUI:C0342803 DPH deficiency DPYS deficiency DPYSD dihydropyrimidinuria disease_ontology DOID:0111629 dihydropyrimidinase deficiency DOID:0111629 A pyrimidine metabolic disorder characterized by a defect in the degradation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the DPYS gene on chromosome 8q22.3. url:https://ghr.nlm.nih.gov/condition/dihydropyrimidinase-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/29054612 DPYSD A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33. MIM:222800 ORDO:714 BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency disease_ontology DOID:0111630 familial erythrocytosis 8 DOID:0111630 A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33. url:https://www.ncbi.nlm.nih.gov/pubmed/2542247 ECYT8 A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3. MIM:617981 ECYT7 alpha-globin type erythrocytosis alpha-globin type polycythemia disease_ontology DOID:0111631 familial erythrocytosis 7 DOID:0111631 A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10676771 url:https://www.ncbi.nlm.nih.gov/pubmed/5913291 ECYT7 A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4. MIM:617980 ECYT6 beta-globin type erythrocytosis beta-globin type polycythemia disease_ontology DOID:0111632 familial erythrocytosis 6 DOID:0111632 A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4. url:https://www.ncbi.nlm.nih.gov/pubmed/10676771 url:https://www.ncbi.nlm.nih.gov/pubmed/17795074 ECYT6 A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. GARD:7710 ICD10CM:E74.31 MEDDRA:10066387 MESH:C538139 MIM:222900 NCI:C128190 ORDO:35122 SNOMEDCT_US_2023_03_01:78373000 UMLS_CUI:C1283620 CSID SI deficiency congenital sucrase-isomaltose malabsorption congenital sucrose intolerance disaccharide intolerance disease_ontology DOID:0111633 congenital sucrase-isomaltase deficiency DOID:0111633 A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. url:https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/3925457 CSID An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. MIM:618481 DFNB99 autosomal recessive deafness 99 disease_ontology DOID:0111634 autosomal recessive nonsyndromic deafness 99 DOID:0111634 An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. url:https://www.ncbi.nlm.nih.gov/pubmed/12673573 DFNB99 An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31. MIM:618003 DFNB57 autosomal recessive deafness 57 disease_ontology DOID:0111635 autosomal recessive nonsyndromic deafness 57 DOID:0111635 An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31. url:https://www.ncbi.nlm.nih.gov/pubmed/29048736 DFNB57 An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13. MIM:618410 DFNB113 autosomal recessive deafness 113 disease_ontology DOID:0111636 autosomal recessive nonsyndromic deafness 113 DOID:0111636 An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13. url:https://www.ncbi.nlm.nih.gov/pubmed/29703829 DFNB113 An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2. MIM:618257 DFNB112 autosomal recessive deafness 112 disease_ontology DOID:0111637 autosomal recessive nonsyndromic deafness 112 DOID:0111637 An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/24312468 DFNB112 An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1. MIM:618422 DFNB100 autosomal recessive deafness 100 disease_ontology DOID:0111638 autosomal recessive nonsyndromic deafness 100 DOID:0111638 An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/29590114 DFNB100 An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. MIM:618013 DFNB109 autosomal recessive deafness 109 disease_ontology DOID:0111639 autosomal recessive nonsyndromic deafness 109 DOID:0111639 An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/29107558 DFNB109 An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33. MIM:618145 DFNB111 autosomal recessive deafness 111 disease_ontology DOID:0111640 autosomal recessive nonsyndromic deafness 111 DOID:0111640 An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33. url:https://www.ncbi.nlm.nih.gov/pubmed/29961571 url:https://www.ncbi.nlm.nih.gov/pubmed/29982980 DFNB111 An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. MIM:618434 DFNB94 autosomal recessive deafness 94 disease_ontology DOID:0111641 autosomal recessive nonsyndromic deafness 94 DOID:0111641 An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. url:https://www.ncbi.nlm.nih.gov/pubmed/25807530 DFNB94 An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. MIM:618456 DFNB114 autosomal recessive deafness 114 disease_ontology DOID:0111642 autosomal recessive nonsyndromic deafness 114 DOID:0111642 An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/30610177 DFNB114 An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2. MIM:618457 DFNB115 autosomal recessive deafness 115 disease_ontology DOID:0111643 autosomal recessive nonsyndromic deafness 115 DOID:0111643 An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/30973865 DFNB115 An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12. MIM:618094 DFNB110 autosomal recessive deafness 110 disease_ontology DOID:0111644 autosomal recessive nonsyndromic deafness 110 DOID:0111644 An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12. url:https://www.ncbi.nlm.nih.gov/pubmed/29449721 DFNB110 An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. MIM:608105 ORDO:163727 EPRPDC RE-PED-WC Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp Rolandic-type focal motor epilepsy and exercise-induced dystonia disease_ontology DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome DOID:0111645 An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/31257402 EPRPDC RE-PED-WC A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3. ICD10CM:E73.0 MESH:C562600 MIM:223000 ORDO:53690 SNOMEDCT_US_2023_03_01:5388008 UMLS_CUI:C0268179 CLD congenital alactasia congenital alactasia syndrome congenital lactose intolerance congenital lactose malabsorption disaccharide intolerance II disease_ontology DOID:0111646 congenital lactase deficiency DOID:0111646 A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3. url:https://ghr.nlm.nih.gov/condition/lactose-intolerance url:https://www.ncbi.nlm.nih.gov/pubmed/16400612 url:https://www.ncbi.nlm.nih.gov/pubmed/5419986 CLD An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35. MESH:C565607 MIM:224750 ORDO:50944 SNOMEDCT_US_2023_03_01:700062000 UMLS_CUI:C1857069 SSPS eccrine tumors-ectodermal dysplasia keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome disease_ontology DOID:0111647 Schopf-Schulz-Passarge syndrome DOID:0111647 An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35. url:https://www.ncbi.nlm.nih.gov/pubmed/19559398 url:https://www.ncbi.nlm.nih.gov/pubmed/2947556 SSPS An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the ADAMTSL4 gene on chromosome 1q21.2. MESH:C563268 MIM:225200 SNOMEDCT_US_2023_03_01:419237004 UMLS_CUI:C1644196 ectopia lentis et pupillae disease_ontology DOID:0111648 ectopia lentis with ectopia of pupil DOID:0111648 An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the ADAMTSL4 gene on chromosome 1q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/20702823 url:https://www.ncbi.nlm.nih.gov/pubmed/7696232 An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1. GARD:2078 MIM:225280 ORDO:1897 EEM syndrome EEMS ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome disease_ontology DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome DOID:0111649 An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15805154 url:https://www.ncbi.nlm.nih.gov/pubmed/6302256 EEMS An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1. MIM:617392 ECTD13 ectodermal dysplasia 13, hair/tooth type disease_ontology DOID:0111650 ectodermal dysplasia 13 DOID:0111650 An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/27049303 ECTD13 An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1. MIM:618535 ECTD15 ectodermal dysplasia 15, hypohidrotic/hair type disease_ontology DOID:0111651 ectodermal dysplasia 15 DOID:0111651 An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/30425301 ECTD15 A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11. MIM:617337 ECTD12 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type disease_ontology DOID:0111652 ectodermal dysplasia 12 DOID:0111652 A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11. url:https://www.ncbi.nlm.nih.gov/pubmed/27838789 ECTD12 A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. MIM:614940 ECTD11A ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant disease_ontology DOID:0111653 ectodermal dysplasia 11A DOID:0111653 A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. url:https://www.ncbi.nlm.nih.gov/pubmed/17354266 ECTD11A A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. MIM:614941 ECTD11B ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive disease_ontology DOID:0111654 ectodermal dysplasia 11B DOID:0111654 A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. url:https://www.ncbi.nlm.nih.gov/pubmed/11780064 ECTD11B An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations. MESH:C566592 ORDO:69084 UMLS_CUI:C1865951 disease_ontology DOID:0111655 pure hair and nail ectodermal dysplasia DOID:0111655 An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations. url:https://www.ncbi.nlm.nih.gov/pubmed/23063621 A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13. MIM:614931 ECTD9 ectodermal dysplasia 9, hair/nail type disease_ontology DOID:0111656 ectodermal dysplasia 9 DOID:0111656 A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13. url:https://www.ncbi.nlm.nih.gov/pubmed/23063621 ECTD9 A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1. MIM:614927 ECTD5 ectodermal dysplasia 5, hair/nail type disease_ontology DOID:0111657 ectodermal dysplasia 5 DOID:0111657 A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15675952 ECTD5 A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT85 gene on chromosome 12q13.13. MIM:602032 ECTD4 ectodermal dysplasia 4, hair/nail type disease_ontology DOID:0111658 ectodermal dysplasia 4 DOID:0111658 A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT85 gene on chromosome 12q13.13. url:https://www.ncbi.nlm.nih.gov/pubmed/16525032 ECTD4 A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2. MIM:614928 ECTD6 ectodermal dysplasia 6, hair/nail type disease_ontology DOID:0111659 ectodermal dysplasia 6 DOID:0111659 A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17107387 ECTD6 A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT74 gene on chromosome 12q13.13. MIM:614929 ECTD7 ectodermal dysplasia 7, hair/nail type disease_ontology DOID:0111660 ectodermal dysplasia 7 DOID:0111660 A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT74 gene on chromosome 12q13.13. url:https://www.ncbi.nlm.nih.gov/pubmed/24714551 ECTD7 An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3. MIM:602401 ORDO:99672 SNOMEDCT_US_2023_03_01:239020008 UMLS_CUI:C0406715 ECTD8 Fried's tooth and nail syndrome ectodermal dysplasia 8, hair/tooth/nail type disease_ontology DOID:0111661 ectodermal dysplasia 8 DOID:0111661 An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/18184143 url:https://www.ncbi.nlm.nih.gov/pubmed/856958 ECTD8 An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3. MIM:618180 ECTN14 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis disease_ontology DOID:0111662 ectodermal dysplasia 14 DOID:0111662 An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/27736875 ECTN14 A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDAR gene on chromosome 2q13. MIM:129490 ECTD10A ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant disease_ontology DOID:0111663 ectodermal dysplasia 10A DOID:0111663 A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDAR gene on chromosome 2q13. url:https://www.ncbi.nlm.nih.gov/pubmed/10431241 ECTD10A A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. MESH:D053358 MIM:305100 NCI:C84562 ORDO:181 SNOMEDCT_US_2023_03_01:239007005 UMLS_CUI:C0162359 CST syndrome Christ-Siemens-Touraine syndrome ED1 HED1 X-linked anhidrotic ectodermal dysplasia XHED XLHED ectodermal dysplasia 1, anhidrotic ectodermal dysplasia 1, hypohidrotic, X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked hypohidrotic ectodermal dysplasia, X-Linked disease_ontology DOID:0111664 ectodermal dysplasia 1 DOID:0111664 A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/8434608 ED1 HED1 XHED XLHED A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDAR gene on chromosome 2q13. MIM:224900 ECTD10B ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive disease_ontology DOID:0111665 ectodermal dysplasia 10B DOID:0111665 A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDAR gene on chromosome 2q13. url:https://www.ncbi.nlm.nih.gov/pubmed/10431241 ECTD10B A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3. MEDDRA:10071718 MESH:C565593 MIM:225790 ORDO:221126 UMLS_CUI:C1856972 EPV Fowler syndrome Fowler vasculopathy PVHH cerebral proliferative glomeruloid vasculopathy encephaloclastic proliferative vasculopathy hydranencephaly, Fowler type hydrocephaly/hydranencephaly due to cerebral vasculopathy proliferative vasculopathy and hydranencephaly/hydrocephaly disease_ontology DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome DOID:0111666 A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/20206334 EPV PVHH An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1. MESH:C562649 MIM:226200 ORDO:168601 SNOMEDCT_US_2023_03_01:190952002 UMLS_CUI:C0268416 congenital enterokinase deficiency congenital enteropathy due to enteropeptidase deficiency deficiency of enteropeptidase disease_ontology DOID:0111667 enterokinase deficiency DOID:0111667 An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/11719902 A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3. GARD:3128 MESH:C537213 MIM:226750 ORDO:1946 SNOMEDCT_US_2023_03_01:109478007 UMLS_CUI:C0406740 KTZS Kohlschutter's syndrome amelocerebrohypohidrotic syndrome epilepsy and yellow teeth epilepsy dementia amelogenesis imperfecta epilepsy-dementia-amelogenesis imperfecta syndrome disease_ontology DOID:0111668 Kohlschutter-Tonz syndrome DOID:0111668 A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/22424600 url:https://www.ncbi.nlm.nih.gov/pubmed/22482807 KTZS A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21. MESH:D057770 MIM:228600 NCI:C98297 ORDO:498474 SNOMEDCT_US_2023_03_01:238861002 UMLS_CUI:C2745948 HFS inherited systemic hyalinosis puretic syndrome systemic hyalinosis disease_ontology DOID:0111669 hyaline fibromatosis syndrome DOID:0111669 A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21. url:https://www.ncbi.nlm.nih.gov/pubmed/22383261 HFS A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. GARD:2835 MESH:C536414 MIM:259900 NCI:C123212 ORDO:93598 SNOMEDCT_US_2023_03_01:65520001 UMLS_CUI:C0268164 HP1 alanine-glyoxylate aminotransferase deficiency glycolic aciduria hepatic AGT deficiency oxalosis I peroxisomal alanine-glyoxylate aminotransferase deficiency serine pyruvate aminotransferase deficiency disease_ontology DOID:0111670 primary hyperoxaluria type 1 DOID:0111670 A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19479957 url:https://www.ncbi.nlm.nih.gov/pubmed/2039493 HP1 A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. GARD:2836 MESH:C536415 MIM:260000 NCI:C123213 ORDO:93599 SNOMEDCT_US_2023_03_01:40951006 UMLS_CUI:C0268165 D-glycerate dehydrogenase deficiency HP2 L-glyceric aciduria glyoxylate reductase/hydroxypyruvate reductase deficiency oxalosis II disease_ontology DOID:0111671 primary hyperoxaluria type 2 DOID:0111671 A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. url:https://www.ncbi.nlm.nih.gov/books/NBK2692/ url:https://www.ncbi.nlm.nih.gov/pubmed/10484776 HP2 A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2. GARD:10738 MIM:613616 NCI:C123214 ORDO:93600 SNOMEDCT_US_2023_03_01:734990008 UMLS_CUI:C3150878 HP3 PH III primary hyperoxaluria type III disease_ontology DOID:0111672 primary hyperoxaluria type 3 DOID:0111672 A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2. url:https://www.ncbi.nlm.nih.gov/books/NBK316514/ url:https://www.ncbi.nlm.nih.gov/pubmed/26340091 HP3 PH III A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1. MIM:618150 ORDO:85172 SNOMEDCT_US_2023_03_01:389197004 UMLS_CUI:C1300285 SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type disease_ontology DOID:0111673 Saul-Wilson syndrome DOID:0111673 A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/30290151 SWILS A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1. MIM:618687 IDDSSBA disease_ontology DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities DOID:0111674 A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/31607425 IDDSSBA A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3. MIM:618652 NOCGUS disease_ontology DOID:0111675 neurooculocardiogenitourinary syndrome DOID:0111675 A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3. url:https://www.ncbi.nlm.nih.gov/pubmed/31327510 NOCGUS A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene. GARD:2684 MESH:C537060 MIM:228960 NCI:C98946 ORDO:483 SNOMEDCT_US_2023_03_01:27312002 UMLS_CUI:C0272340 Fitzgerald trait HMWK deficiency congenital high-molecular-weight kininogen deficiency disease_ontology DOID:0111676 high molecular weight kininogen deficiency DOID:0111676 A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene. url:https://www.ncbi.nlm.nih.gov/pubmed/12576314 url:https://www.ncbi.nlm.nih.gov/pubmed/2989293 A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13. MESH:C565564 MIM:228980 ORDO:363989 SNOMEDCT_US_2023_03_01:770434009 UMLS_CUI:C1856718 FRFB disease_ontology DOID:0111677 familial benign fleck retina DOID:0111677 A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13. url:https://www.ncbi.nlm.nih.gov/pubmed/22137173 FRFB A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2. GARD:12983 MESH:C562799 MIM:229050 NCI:C156424 ORDO:90045 SNOMEDCT_US_2023_03_01:62578003 UMLS_CUI:C0342705 congenital defect of folate absorption congenital folate malabsorption disease_ontology DOID:0111678 hereditary folate malabsorption DOID:0111678 A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2. url:https://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption url:https://www.ncbi.nlm.nih.gov/pubmed/17129779 A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3. GARD:9279 MESH:C537425 MIM:229100 ORDO:51208 SNOMEDCT_US_2023_03_01:59761008 UMLS_CUI:C0268609 Arakawa syndrome 1 FIGLU-uria FTCD deficiency formiminoglutamic acidemia formiminoglutamic aciduria formiminotransferase cyclodeaminase deficiency formiminotransferase deficiency syndrome disease_ontology DOID:0111679 glutamate formiminotransferase deficiency DOID:0111679 A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3. url:https://ghr.nlm.nih.gov/condition/glutamate-formiminotransferase-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/12815595 A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3. ICD10CM:E74.11 MEDDRA:10015487 MESH:C538068 MIM:229800 ORDO:2056 SNOMEDCT_US_2023_03_01:124300009 UMLS_CUI:C0268160 fructokinase deficiency hepatic fructokinase deficiency ketohexokinase deficiency disease_ontology DOID:0111680 essential fructosuria DOID:0111680 A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3. url:https://www.ncbi.nlm.nih.gov/pubmed/7833921 An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1. MESH:C565557 MIM:230450 ORDO:33574 UMLS_CUI:C1856603 gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency disease_ontology DOID:0111681 congenital nonspherocytic hemolytic anemia 7 DOID:0111681 An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/10515893 url:https://www.ncbi.nlm.nih.gov/pubmed/5058793 A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. GARD:4658 MIM:601331 CYSRD renal dysplasia diffuse cystic susceptibility to cystic renal dysplasia disease_ontology DOID:0111682 diffuse cystic renal dysplasia DOID:0111682 A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. url:https://www.ncbi.nlm.nih.gov/pubmed/21922595 url:https://www.ncbi.nlm.nih.gov/pubmed/8725780 CYSRD A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2. GARD:372 MESH:C537393 MIM:601321 ORDO:638 SNOMEDCT_US_2023_03_01:715344006 UMLS_CUI:C2931482 NFNS Noonan neurofibromatosis syndrome neurofibromatosis type 1-Noonan syndrome neurofibromatosis with Noonan phenotype disease_ontology DOID:0111683 neurofibromatosis-Noonan syndrome GARD:372 MESH:C537393 MIM:601321 ORDO:638 SNOMEDCT_US_2023_03_01:715344006 UMLS_CUI:C2931482 DOID:0111683 A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/12707950 url:https://www.ncbi.nlm.nih.gov/pubmed/2411134 NFNS An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated. ORDO:157794 HMPS disease_ontology DOID:0111684 hereditary mixed polyposis syndrome DOID:0111684 An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated. url:https://www.ncbi.nlm.nih.gov/pubmed/8644741 HMPS A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1. MIM:601228 CRAC1 HMPS1 chromosome 15q13-q14 duplication syndrome, 40-KB colorectal adenoma and carcinoma 1 disease_ontology DOID:0111685 hereditary mixed polyposis syndrome 1 DOID:0111685 A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/22561515 url:https://www.ncbi.nlm.nih.gov/pubmed/8644741 CRAC1 HMPS1 A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2. MIM:610069 HMPS2 disease_ontology DOID:0111686 hereditary mixed polyposis syndrome 2 DOID:0111686 A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2. url:https://www.ncbi.nlm.nih.gov/pubmed/16525031 HMPS2 A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. GARD:9762 MESH:C538356 MIM:601224 NCI:C75456 ORDO:52022 SNOMEDCT_US_2023_03_01:702346005 UMLS_CUI:C1832588 11p11.2 deletion PSS proximal 11p deletion syndrome disease_ontology DOID:0111687 Potocki-Shaffer syndrome DOID:0111687 A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. url:https://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/20140962 url:https://www.ncbi.nlm.nih.gov/pubmed/8644736 PSS A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2. MESH:C563390 MIM:601088 UMLS_CUI:C1832812 AYGRP cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation disease_ontology DOID:0111688 Ayme-Gripp syndrome DOID:0111688 A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2. url:https://www.ncbi.nlm.nih.gov/pubmed/25865493 url:https://www.ncbi.nlm.nih.gov/pubmed/8834052 AYGRP An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities. MIM:PS601068 ORDO:86814 SNOMEDCT_US_2023_03_01:717225001 UMLS_CUI:C4273988 BAFME FAME FCMTE benign adult familial myoclonic epilepsy benign adult familial myoclonus epilepsy familial cortical myoclonic tremor and epilepsy disease_ontology DOID:0111689 familial adult myoclonic epilepsy DOID:0111689 An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities. url:https://www.ncbi.nlm.nih.gov/pubmed/20548044 BAFME FAME FCMTE A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. MIM:601068 BAFME1 FAME1 FCMTE1 benign adult familial myoclonic epilepsy 1 familial cortical myoclonic tremor and epilepsy 1 disease_ontology DOID:0111690 familial adult myoclonic epilepsy 1 DOID:0111690 A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. url:https://www.ncbi.nlm.nih.gov/pubmed/29507423 url:https://www.ncbi.nlm.nih.gov/pubmed/29939203 BAFME1 FAME1 FCMTE1 A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1. MIM:615400 FAME5 FCMTE5 familial cortical myoclonic tremor and epilepsy 5 disease_ontology DOID:0111691 familial adult myoclonic epilepsy 5 DOID:0111691 A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1. url:https://www.ncbi.nlm.nih.gov/pubmed/23518707 FAME5 FCMTE5 A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2. MIM:607876 ADCME BAFME2 FAME2 FCMTE2 autosomal dominant cortical myoclonus and epilepsy benign adult familial myoclonic epilepsy 2 familial cortical myoclonic tremor and epilepsy 2 disease_ontology DOID:0111692 familial adult myoclonic epilepsy 2 DOID:0111692 A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/22491192 url:https://www.ncbi.nlm.nih.gov/pubmed/24114805 url:https://www.ncbi.nlm.nih.gov/pubmed/31664034 ADCME BAFME2 FAME2 FCMTE2 A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1. MIM:615127 FAME4 FCMTE4 familial cortical myoclonic tremor and epilepsy 4 disease_ontology DOID:0111693 familial adult myoclonic epilepsy 4 DOID:0111693 A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1. url:https://www.ncbi.nlm.nih.gov/pubmed/31539032 FAME4 FCMTE4 A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. MIM:618075 BAFME7 FAME7 FCMTE7 benign adult familial myoclonic epilepsy 7 familial cortical myoclonic tremor and epilepsy 7 disease_ontology DOID:0111694 familial adult myoclonic epilepsy 7 DOID:0111694 A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. url:https://www.ncbi.nlm.nih.gov/pubmed/29507423 BAFME7 FAME7 FCMTE7 A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2. MIM:613608 FAME3 FCMTE3 familial cortical myoclonic tremor and epilepsy 3 disease_ontology DOID:0111695 familial adult myoclonic epilepsy 3 DOID:0111695 A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2. url:https://www.ncbi.nlm.nih.gov/pubmed/31664039 FAME3 FCMTE3 A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1. MIM:618074 BAFME6 FAME6 FCMTE6 benign adult familial myoclonic epilepsy 6 familial cortical myoclonic tremor and epilepsy 6 disease_ontology DOID:0111696 familial adult myoclonic epilepsy 6 DOID:0111696 A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/29507423 BAFME6 FAME6 FCMTE6 A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14. MESH:C563414 MIM:600987 UMLS_CUI:C1832950 CPCMR cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies cleft palate, cardiac defects, and mental retardation disease_ontology DOID:0111697 cleft palate, cardiac defects, and intellectual disability DOID:0111697 A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14. url:https://www.ncbi.nlm.nih.gov/pubmed/24678003 url:https://www.ncbi.nlm.nih.gov/pubmed/8825606 CPCMR A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15. MESH:C563423 MIM:600955 ORDO:71528 UMLS_CUI:C1833053 PCI deficiency obesity and endocrinopathy due to impaired processing of prohormones obesity due to prohormone convertase I deficiency obesity with impaired prohormone processing disease_ontology DOID:0111698 proprotein convertase 1/3 deficiency DOID:0111698 A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15. url:https://www.ncbi.nlm.nih.gov/pubmed/14617756 url:https://www.ncbi.nlm.nih.gov/pubmed/7477119 url:https://www.ncbi.nlm.nih.gov/pubmed/9207799 A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21. GARD:3382 MESH:C535909 MIM:600920 ORDO:2460 SNOMEDCT_US_2023_03_01:719845008 UMLS_CUI:C1833136 Marden-Walker-like syndrome Marden-Walker-like syndrome without psychmotor retardation VDEGS blepharophimosis, arachnodactyly, and congenital contractures disease_ontology DOID:0111699 Van den Ende-Gupta syndrome DOID:0111699 A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21. url:https://www.ncbi.nlm.nih.gov/pubmed/23808541 VDEGS A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. GARD:13294 MIM:600919 ankyrin-B syndrome disease_ontology DOID:0111700 ankyrin-B-related cardiac arrhythmia DOID:0111700 A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. url:https://ghr.nlm.nih.gov/condition/ankyrin-b-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/15178757 url:https://www.ncbi.nlm.nih.gov/pubmed/17242276 A long QT syndrome that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. GARD:10432 MESH:C563428 LQT4 disease_ontology DOID:0111701 long QT syndrome 4 DOID:0111701 A long QT syndrome that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. url:https://www.ncbi.nlm.nih.gov/pubmed/7485162 LQT4 An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age. GARD:3287 MESH:D058247 MIM:600628 ORDO:168 SNOMEDCT_US_2023_03_01:238735005 UMLS_CUI:C0406468 loose anagen syndrome disease_ontology DOID:0111702 loose anagen hair syndrome DOID:0111702 An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age. url:https://www.ncbi.nlm.nih.gov/pubmed/1705765 url:https://www.ncbi.nlm.nih.gov/pubmed/2915059 An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1. GARD:2871 MESH:C563467 MIM:600627 ORDO:2224 SNOMEDCT_US_2023_03_01:721838005 UMLS_CUI:C2931837 HYPTRP disease_ontology DOID:0111703 familial hypertryptophanemia DOID:0111703 An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1. url:https://www.ncbi.nlm.nih.gov/pubmed/28285122 url:https://www.ncbi.nlm.nih.gov/pubmed/7628119 HYPTRP A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. MESH:C538317 MIM:600430 NCI:C129021 ORDO:1001 SNOMEDCT_US_2023_03_01:702357000 UMLS_CUI:C2931817 2q37 microdeletion syndrome Albright hereditary osteodystrophy type 3 Albright hereditary osteodystrophy-like syndrome Albright's hereditary osteodystrophy-like syndrome BDMR Brachydactyly-intellectual disability syndrome Del(2)(q37) deletion 2q37 monosomy 2q37qter disease_ontology DOID:0111704 chromosome 2q37 deletion syndrome DOID:0111704 A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. url:https://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/23188045 url:https://www.ncbi.nlm.nih.gov/pubmed/24715439 url:https://www.ncbi.nlm.nih.gov/pubmed/25402011 BDMR An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1. GARD:10366 MESH:C563969 MIM:600268 ORDO:3339 SNOMEDCT_US_2023_03_01:723554006 UMLS_CUI:C1838329 Toriello-Lacassie-Droste syndrome aplasia cutis congenita-epibulbar dermoids syndrome disease_ontology DOID:0111705 oculoectodermal syndrome DOID:0111705 An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1. url:https://www.ncbi.nlm.nih.gov/pubmed/25808193 url:https://www.ncbi.nlm.nih.gov/pubmed/26970110 An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23. MIM:600251 Tessier number 4 facial cleft disease_ontology DOID:0111706 oblique facial clefting 1 DOID:0111706 An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23. url:https://en.wikipedia.org/wiki/Craniofacial_cleft#Tessier_classification url:https://www.ncbi.nlm.nih.gov/pubmed/21703590 url:https://www.ncbi.nlm.nih.gov/pubmed/820824 A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12. GARD:1862 MESH:C536173 MIM:600231 ORDO:2337 UMLS_CUI:C1838359 PPKB diffuse palmoplantar keratoderma, Bothnian type disease_ontology DOID:0111707 Bothnian type palmoplantar keratoderma GARD:1862 MESH:C536173 MIM:600231 ORDO:2337 UMLS_CUI:C1838359 DOID:0111707 A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12. url:https://www.ncbi.nlm.nih.gov/pubmed/23830519 url:https://www.ncbi.nlm.nih.gov/pubmed/7531539 PPKB A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. MESH:C538682 ORDO:448264 UMLS_CUI:C2931923 FNEPPK isolated focal non-epidermolytic palmoplantar keratoderma disease_ontology DOID:0111708 focal nonepidermolytic palmoplantar keratoderma DOID:0111708 A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. url:https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Focal url:https://www.ncbi.nlm.nih.gov/pubmed/21176769 FNEPPK A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT16 gene on chromosome 17q21.2. MIM:613000 FNEPPK1 disease_ontology DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 DOID:0111709 A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT16 gene on chromosome 17q21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/8595410 FNEPPK1 A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13. MIM:615735 ORDO:402003 PPKNEFD autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering disease_ontology DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma DOID:0111710 A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13. url:https://www.ncbi.nlm.nih.gov/pubmed/19609311 url:https://www.ncbi.nlm.nih.gov/pubmed/21801157 PPKNEFD A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. MIM:616400 FNEPPK2 disease_ontology DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 DOID:0111711 A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/25285920 FNEPPK2 A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32. MIM:608149 ORDO:254519 KOS disease_ontology DOID:0111712 Kagami-Ogata syndrome DOID:0111712 A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/10951461 url:https://www.ncbi.nlm.nih.gov/pubmed/12938037 KOS A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32. MIM:616222 NCI:C120409 ORDO:254516 SNOMEDCT_US_2023_03_01:778012003 UMLS_CUI:C4015558 disease_ontology DOID:0111713 Temple syndrome DOID:0111713 A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32. url:https://www.ncbi.nlm.nih.gov/pubmed/18454453 url:https://www.ncbi.nlm.nih.gov/pubmed/24891339 A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13. MIM:617352 ORDO:96186 SNOMEDCT_US_2023_03_01:715735007 UMLS_CUI:C4275029 MBCS UPD(20)mat maternal UPD(20) maternal uniparental disomy of chromosome 20 disease_ontology DOID:0111714 Mulchandani-Bhoj-Conlin syndrome DOID:0111714 A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13. url:https://www.ncbi.nlm.nih.gov/pubmed/26248010 MBCS UPD(20)mat A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. GARD:13316 MIM:615547 ORDO:398069 SNOMEDCT_US_2023_03_01:770680004 UMLS_CUI:C3809877 MAGEL2-related PWLS MAGEL2-related Prader-Willi-like syndrome PWLS SHFYNG disease_ontology DOID:0111715 Schaaf-Yang syndrome DOID:0111715 A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/27195816 PWLS SHFYNG A physical disorder characterized by ocular dysplasia with eyelid malformation. ICD10CM:Q11.2 ICD9CM:743.06 NCI:C124520 ORDO:98562 SNOMEDCT_US_2023_03_01:62589005 UMLS_CUI:C0311249 cryptophthalmos disease_ontology DOID:0111716 cryptophthalmia DOID:0111716 A physical disorder characterized by ocular dysplasia with eyelid malformation. url:https://www.ncbi.nlm.nih.gov/pubmed/30802441 A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye. MESH:C565138 MIM:123570 ORDO:91396 UMLS_CUI:C1852453 CRYPTOP unilateral or bilateral isolated cryptophthalmos disease_ontology DOID:0111717 isolated cryptophthalmia DOID:0111717 A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye. url:https://www.ncbi.nlm.nih.gov/pubmed/16352480 url:https://www.ncbi.nlm.nih.gov/pubmed/29688405 url:https://www.ncbi.nlm.nih.gov/pubmed/31366340 CRYPTOP An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea. ORDO:98950 incomplete cryptophthalmos disease_ontology DOID:0111718 partial cryptophthalmia DOID:0111718 An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea. url:https://www.ncbi.nlm.nih.gov/pubmed/31366340 An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket. ORDO:98949 disease_ontology DOID:0111719 complete cryptophthalmia DOID:0111719 An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket. url:https://www.ncbi.nlm.nih.gov/pubmed/31366340 An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia. ORDO:98948 disease_ontology DOID:0111720 congenital symblepharon DOID:0111720 An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia. url:https://www.ncbi.nlm.nih.gov/pubmed/16352480 url:https://www.ncbi.nlm.nih.gov/pubmed/31366340 An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption. MESH:C562880 ORDO:100032 SNOMEDCT_US_2023_03_01:109471001 UMLS_CUI:C0399376 AI3 hypocalcified amelogenesis imperfecta disease_ontology DOID:0111721 amelogenesis imperfecta type 3 DOID:0111721 An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption. url:https://www.ncbi.nlm.nih.gov/pubmed/30506946 AI3 An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13. MIM:618386 AI3C amelogenesis imperfecta type IIIC autosomal recessive amelogenesis imperfecta hypocalcification type disease_ontology DOID:0111722 amelogenesis imperfecta type 3C DOID:0111722 An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13. url:https://www.ncbi.nlm.nih.gov/pubmed/30506946 AI3C A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q. GARD:307 MESH:D054868 MIM:147791 ORDO:2308 Jacobsen distal 11q deletion syndrome chromosome 11q deletion syndrome partial 11q monosomy syndrome disease_ontology DOID:0111723 Jacobsen Syndrome DOID:0111723 A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q. url:https://www.ncbi.nlm.nih.gov/pubmed/4134631 A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis. GARD:2449 MEDDRA:10063361 MIM:PS231050 ORDO:2623 SNOMEDCT_US_2023_03_01:28557005 UMLS_CUI:C3489726 GPHYSD geleophysic dwarfism disease_ontology DOID:0111724 geleophysic dysplasia DOID:0111724 A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis. url:https://ghr.nlm.nih.gov/condition/geleophysic-dysplasia url:https://www.ncbi.nlm.nih.gov/pubmed/20301776 url:https://www.ncbi.nlm.nih.gov/pubmed/31516831 GPHYSD A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2. MIM:231050 GPHYSD1 disease_ontology DOID:0111725 geleophysic dysplasia 1 DOID:0111725 A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2. url:https://www.ncbi.nlm.nih.gov/pubmed/21683322 GPHYSD1 A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1. MIM:614185 GPHYSD2 disease_ontology DOID:0111726 geleophysic dysplasia 2 DOID:0111726 A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/21683322 GPHYSD2 A geleophysic dysplasia that has_material_basis_in heterozygous mutation in the LTBP3 gene on chromosome 11q13.1. MIM:617809 GPHYSD3 disease_ontology DOID:0111727 geleophysic dysplasia 3 DOID:0111727 A geleophysic dysplasia that has_material_basis_in heterozygous mutation in the LTBP3 gene on chromosome 11q13.1. url:https://www.ncbi.nlm.nih.gov/pubmed/27068007 GPHYSD3 A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion. GARD:12684 MIM:PS615040 ORDO:391384 FEPS disease_ontology DOID:0111728 familial episodic pain syndrome DOID:0111728 A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion. url:https://www.ncbi.nlm.nih.gov/pubmed/24813307 url:https://www.ncbi.nlm.nih.gov/pubmed/28298626 FEPS A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13. MIM:615040 ORDO:391389 FEPS1 disease_ontology DOID:0111729 familial episodic pain syndrome 1 DOID:0111729 A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13. url:https://www.ncbi.nlm.nih.gov/pubmed/20547126 FEPS1 A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22. MIM:615551 FEPS2 disease_ontology DOID:0111730 familial episodic pain syndrome 2 DOID:0111730 A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22. url:https://www.ncbi.nlm.nih.gov/pubmed/23115331 FEPS2 A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. MIM:615552 NCI:C125390 ORDO:391392 FEPS3 disease_ontology DOID:0111731 familial episodic pain syndrome 3 DOID:0111731 A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. url:https://www.ncbi.nlm.nih.gov/pubmed/24207120 FEPS3 A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. MESH:C564010 MIM:600002 ORDO:79106 SNOMEDCT_US_2023_03_01:720863002 UMLS_CUI:C1838779 Eiken skeletal dysplasia bone modeling defect of hands and feet disease_ontology DOID:0111732 Eiken syndrome DOID:0111732 A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. url:https://www.ncbi.nlm.nih.gov/pubmed/6734674 A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2. MIM:600001 HDCA PACHD Yorifuji-Okuno syndrome congenital heart defects and other congenital anomalies congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease pancreatic agenesis and congenital heart defects disease_ontology DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome DOID:0111733 A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/22158542 url:https://www.ncbi.nlm.nih.gov/pubmed/8071961 HDCA PACHD A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31. MIM:580000 streptomycin ototoxicity streptomycin-induced deafness disease_ontology DOID:0111734 aminoglycoside-induced deafness DOID:0111734 A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31. url:https://www.ncbi.nlm.nih.gov/pubmed/16152638 url:https://www.ncbi.nlm.nih.gov/pubmed/7689389 An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12. MIM:300066 DFN6 DFNX4 X-linked progressive deafness 6 nonsyndromic sensorineural progressive deafness 6 disease_ontology DOID:0111735 X-linked deafness 4 DOID:0111735 An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12. url:https://www.ncbi.nlm.nih.gov/pubmed/8872482 DFN6 DFNX4 An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2. MIM:300030 DFN4 DFNX3 congenital sensorineural X-linked deafness 4 disease_ontology DOID:0111736 X-linked deafness 3 DOID:0111736 An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/18005182 url:https://www.ncbi.nlm.nih.gov/pubmed/7942846 DFN4 DFNX3 An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1. DOID:0080783 MIM:304400 ORDO:383 DFN3 DFNX2 Nance deafness X-linked deafness type 2 X-linked mixed conductive and neurosensory deafness X-linked mixed conductive and neurosensory hearing loss X-linked mixed conductive and sensorineural deafness X-linked mixed conductive and sensorineural hearing loss X-linked sensorineural deafness X-linked stapes gusher syndrome conductive deafness 3 with stapes fixation conductive deafness with stapes fixation mixed deafness with perilymphatic gusher disease_ontology DOID:0111737 X-linked deafness 2 DOID:0111737 An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/20412083 url:https://www.ncbi.nlm.nih.gov/pubmed/7839145 DFN3 DFNX2 An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1. MIM:301018 ORDO:500188 DFNX7 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome disease_ontology DOID:0111738 X-linked deafness 7 DOID:0111738 An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/28096187 DFNX7 An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3. MIM:304500 DFN2 DFNX1 X-linked sensorineural congenital deafness 2 disease_ontology DOID:0111739 X-linked deafness 1 DOID:0111739 An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/20021999 url:https://www.ncbi.nlm.nih.gov/pubmed/8968763 DFN2 DFNX1 An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the COL4A6 gene on chromosome Xq22.3. MIM:300914 DFNX6 disease_ontology DOID:0111740 X-linked deafness 6 DOID:0111740 An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the COL4A6 gene on chromosome Xq22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/23714752 DFNX6 A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1. MIM:300614 ORDO:139583 AUNX1 DFNX5 X-linked HSAN with deafness X-linked auditory neuropathy 1 with peripheral sensory neuropathy X-linked auditory neuropathy with peripheral sensory neuropathy type 1 disease_ontology DOID:0111741 X-linked deafness 5 DOID:0111741 A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16816020 url:https://www.ncbi.nlm.nih.gov/pubmed/25986071 AUNX1 DFNX5 An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21. MIM:616795 ORDO:458803 SCA42 disease_ontology DOID:0111742 cerebellar ataxia type 42 DOID:0111742 An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21. url:https://www.ncbi.nlm.nih.gov/pubmed/26456284 SCA42 An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. MIM:620719 ORDO:589515 PUM1-associated developmental disability-ataxia-seizure syndrome SCA47 disease_ontology DOID:0111743 cerebellar ataxia type 47 DOID:0111743 An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. url:https://www.ncbi.nlm.nih.gov/pubmed/29474920 SCA47 An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27. MIM:616410 ORDO:458798 SCA41 disease_ontology DOID:0111744 cerebellar ataxia type 41 DOID:0111744 An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27. url:https://www.ncbi.nlm.nih.gov/pubmed/25477146 SCA41 An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. MIM:617018 ORDO:497764 SCA43 disease_ontology DOID:0111745 cerebellar ataxia type 43 DOID:0111745 An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. url:https://www.ncbi.nlm.nih.gov/pubmed/27583304 SCA43 An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3. MIM:618093 SCA48 disease_ontology DOID:0111746 cerebellar ataxia type 48 DOID:0111746 An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3. url:https://www.ncbi.nlm.nih.gov/pubmed/30381368 SCA48 An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI. GARD:10481 MIM:612876 SCA9 disease_ontology DOID:0111747 cerebellar ataxia type 9 DOID:0111747 An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI. url:https://www.ncbi.nlm.nih.gov/pubmed/31632837 url:https://www.ncbi.nlm.nih.gov/pubmed/9159738 SCA9 A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6. MIM:500015 MC5DM1 disease_ontology DOID:0111748 mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 DOID:0111748 A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6. url:https://www.ncbi.nlm.nih.gov/pubmed/1550128 MC5DM1 A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33. MIM:618683 MC5DN6 disease_ontology DOID:0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 DOID:0111749 A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33. url:https://www.ncbi.nlm.nih.gov/pubmed/29917077 MC5DN6 A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. MIM:500010 disease_ontology DOID:0111750 adult-onset ataxia and polyneuropathy DOID:0111750 A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. url:https://www.ncbi.nlm.nih.gov/pubmed/16049925 A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI. MIM:500008 disease_ontology DOID:0111751 mitochondrial nonsyndromic sensorineural deafness DOID:0111751 A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI. url:https://www.ncbi.nlm.nih.gov/pubmed/10577941 url:https://www.ncbi.nlm.nih.gov/pubmed/16650816 url:https://www.ncbi.nlm.nih.gov/pubmed/17341440 url:https://www.ncbi.nlm.nih.gov/pubmed/7689389 url:https://www.ncbi.nlm.nih.gov/pubmed/8019558 A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene. MIM:221745 disease_ontology DOID:0111752 autosomal-mitochondrial sensorineural deafness DOID:0111752 A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene. url:https://www.ncbi.nlm.nih.gov/pubmed/1613771 url:https://www.ncbi.nlm.nih.gov/pubmed/8817331 A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8. MIM:500006 disease_ontology DOID:0111753 infantile hypertrophic cardiomyopathy DOID:0111753 A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8. url:https://www.ncbi.nlm.nih.gov/pubmed/19188198 A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. ORDO:99718 LHON plus disease disease_ontology DOID:0111754 Leber plus disease DOID:0111754 A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. url:https://www.ncbi.nlm.nih.gov/pubmed/27696015 A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I. MIM:500001 LDYT Leber optic atrophy and dystonia Leber optic atrophy with dystonia Marsden syndrome familial dystonia with visual failure and striatal lucencies disease_ontology DOID:0111755 Leber hereditary optic neuropathy and dystonia DOID:0111755 A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I. url:https://www.ncbi.nlm.nih.gov/pubmed/17562939 url:https://www.ncbi.nlm.nih.gov/pubmed/19458970 url:https://www.ncbi.nlm.nih.gov/pubmed/3711913 url:https://www.ncbi.nlm.nih.gov/pubmed/3736869 url:https://www.ncbi.nlm.nih.gov/pubmed/8644732 LDYT A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system. MIM:165200 disease_ontology DOID:0111756 Leber hereditary optic neuropathy with demyelinating disease of CNS DOID:0111756 A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system. url:https://www.ncbi.nlm.nih.gov/pubmed/14213470 A nonsyndromic deafness characterized by a Y-lnked inheritance mode. MIM:PS400043 DFNY disease_ontology DOID:0111757 Y-linked deafness DOID:0111757 A nonsyndromic deafness characterized by a Y-lnked inheritance mode. url:https://www.ncbi.nlm.nih.gov/pubmed/23352258 DFNY A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2. MIM:400047 DFNY2 disease_ontology DOID:0111758 Y-linked deafness 2 DOID:0111758 A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/30341416 DFNY2 A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life. MIM:400043 DFNY1 disease_ontology DOID:0111759 Y-linked deafness 1 DOID:0111759 A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life. url:https://www.ncbi.nlm.nih.gov/pubmed/18720061 DFNY1 A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous. GARD:399 MESH:D058531 ORDO:393 46,XX testicular DSD 46,XX testicular disorder of sex development De la Chapelle syndrome SRXX XX, male syndrome disease_ontology DOID:0111760 46,XX sex reversal DOID:0111760 A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous. url:https://ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development url:https://www.ncbi.nlm.nih.gov/pubmed/20301589 SRXX A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome. MIM:400045 SRXX1 disease_ontology DOID:0111761 46,XX sex reversal 1 DOID:0111761 A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome. url:https://www.ncbi.nlm.nih.gov/pubmed/15378545 SRXX1 A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26. MIM:300833 SRXX3 disease_ontology DOID:0111762 46,XX sex reversal 3 DOID:0111762 A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26. url:https://www.ncbi.nlm.nih.gov/pubmed/21183788 SRXX3 A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24. MIM:278850 SRXX2 chromosome 17q24 duplication syndrome disease_ontology DOID:0111763 46,XX sex reversal 2 DOID:0111763 A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24. url:https://www.ncbi.nlm.nih.gov/pubmed/21208124 url:https://www.ncbi.nlm.nih.gov/pubmed/8262517 SRXX2 A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. MIM:617480 SRXX4 disease_ontology DOID:0111764 46,XX sex reversal 4 DOID:0111764 A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. url:https://www.ncbi.nlm.nih.gov/pubmed/27378692 SRXX4 A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. MESH:C536197 MIM:314400 NCI:C141423 ORDO:555877 SNOMEDCT_US_2023_03_01:67202007 UMLS_CUI:C0268341 CVD1 Dystrophie valvulaire associee a FLNA EDS5 Ehlers-Danlos syndrome, type 5 FLNA-related X-linked myxomatous valvular dysplasia FLNA-related valvular dystrophy Filamin A-related X-linked myxomatous valvular dysplasia XMVD disease_ontology DOID:0111765 X-linked cardiac valvular dysplasia DOID:0111765 A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. url:https://ghr.nlm.nih.gov/condition/x-linked-cardiac-valvular-dysplasia url:https://www.ncbi.nlm.nih.gov/pubmed/17190868 CVD1 EDS5 XMVD A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2. GARD:8498 MIM:314390 VACTERL association, X-linked with or without hydrocephalus VACTERLX disease_ontology DOID:0111766 X-linked VACTERL association DOID:0111766 A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/15502827 url:https://www.ncbi.nlm.nih.gov/pubmed/20452998 VACTERLX A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. MESH:C564050 MIM:314050 NCI:C134941 ORDO:231393 SNOMEDCT_US_2023_03_01:718196002 UMLS_CUI:C1839161 GATA1-related X-linked cytopenia XLTT beta-thalassemia-X-linked thrombocytopenia syndrome thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis disease_ontology DOID:0111767 X-linked thrombocytopenia with beta-thalassemia DOID:0111767 A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/18930124 url:https://www.ncbi.nlm.nih.gov/pubmed/22102271 XLTT A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23. GARD:9913 MESH:C537241 MIM:312060 ORDO:2966 SNOMEDCT_US_2023_03_01:81166004 UMLS_CUI:C0398762 UMLS_CUI:C1839454 CFPD complement factor properdin deficiency disease_ontology DOID:0111768 X-linked properdin deficiency DOID:0111768 A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/8530058 CFPD A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2. MIM:613762 46,XY gonadal dysgenesis, partial or complete, MAP3K1-related 46,XY sex reversal, partial or complete, MAP3K1-related SRXY6 disease_ontology DOID:0111769 46,XY sex reversal 6 DOID:0111769 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/1956279 url:https://www.ncbi.nlm.nih.gov/pubmed/21129722 SRXY6 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the ZFPM2 gene on chromosome 8q23.1. MIM:616067 46,XY sex reversal, ZFPM2-related SRXY9 disease_ontology DOID:0111770 46,XY sex reversal 9 DOID:0111770 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the ZFPM2 gene on chromosome 8q23.1. url:https://www.ncbi.nlm.nih.gov/pubmed/1956279 url:https://www.ncbi.nlm.nih.gov/pubmed/24549039 SRXY9 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p. MESH:C567887 MIM:154230 46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion SRXY4 chromosome 9p24.3 deletion syndrome disease_ontology DOID:0111771 46,XY sex reversal 4 DOID:0111771 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p. url:https://www.ncbi.nlm.nih.gov/pubmed/10780781 url:https://www.ncbi.nlm.nih.gov/pubmed/19417767 url:https://www.ncbi.nlm.nih.gov/pubmed/1956279 SRXY4 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. MIM:612965 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure 46,XY sex reversal, partial or complete, NR5A1-related SRXY3 disorder of sex development, 46,XY, NR5A1-related sex reversal, XY, with or without adrenal failure disease_ontology DOID:0111772 46,XY sex reversal 3 DOID:0111772 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10369247 url:https://www.ncbi.nlm.nih.gov/pubmed/1956279 SRXY3 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1. MIM:614279 ORDO:443087 SRXY8 TDD male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase disease_ontology DOID:0111773 46,XY sex reversal 8 DOID:0111773 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1. url:https://www.ncbi.nlm.nih.gov/pubmed/1956279 url:https://www.ncbi.nlm.nih.gov/pubmed/21802064 url:https://www.ncbi.nlm.nih.gov/pubmed/4352099 SRXY8 TDD A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12. MIM:233420 46,XY gonadal dysgenesis, partial or complete, DHH-related 46,XY sex reversal, partial or complete, DHH-related GDXYM SRXY7 gonadal dysgenesis, XY, male limited disease_ontology DOID:0111774 46,XY sex reversal 7 DOID:0111774 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12. url:https://www.ncbi.nlm.nih.gov/pubmed/15356051 url:https://www.ncbi.nlm.nih.gov/pubmed/1956279 GDXYM SRXY7 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24. MIM:616425 SRXY10 chromosome 17q24 deletion syndrome disease_ontology DOID:0111775 46,XY sex reversal 10 DOID:0111775 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24. url:https://www.ncbi.nlm.nih.gov/pubmed/1956279 url:https://www.ncbi.nlm.nih.gov/pubmed/22051515 SRXY10 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3. MESH:C567766 MIM:613080 46,XY gonadal dysgenesis, complete, CBX2-related 46,XY sex reversal, CBX2-related SRXY5 disorder of sex development, 46,XY, CBX2-related sex reversal, XY, CBX2-related disease_ontology DOID:0111776 46,XY sex reversal 5 DOID:0111776 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19361780 url:https://www.ncbi.nlm.nih.gov/pubmed/1956279 SRXY5 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2. GARD:9159 MIM:300018 46,XY sex reversal, DAX1-related 46XY sex reversal 2, dosage-sensitive SRXY2 dosage-sensitive sex reversal disease_ontology DOID:0111777 46,XY sex reversal 2 DOID:0111777 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2. url:https://www.ncbi.nlm.nih.gov/pubmed/1956279 url:https://www.ncbi.nlm.nih.gov/pubmed/567843 url:https://www.ncbi.nlm.nih.gov/pubmed/7951319 SRXY2 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2. MIM:400044 46,XY gonadal dysgenesis, complete, SRY-related 46,XY sex reversal, SRY-related SRXY1 disease_ontology DOID:0111778 46,XY sex reversal 1 DOID:0111778 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/1956279 url:https://www.ncbi.nlm.nih.gov/pubmed/2247151 SRXY1 A combined pituitary hormone deficiency that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1. GARD:6737 MIM:312000 PHPX pituitary dwarfism IV disease_ontology DOID:0111779 X-linked panhypopituitarism DOID:0111779 A combined pituitary hormone deficiency that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15800844 PHPX A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3. GARD:10089 MESH:C536942 MIM:311900 ORDO:2886 SNOMEDCT_US_2023_03_01:725911008 UMLS_CUI:C1839463 Pierre Robin sequence-congenital heart defect-talipes syndrome Pierre Robin syndrome-congenital heart defect-talipes syndrome TARPS talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome disease_ontology DOID:0111780 TARP syndrome DOID:0111780 A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3. url:https://www.ncbi.nlm.nih.gov/pubmed/20451169 url:https://www.ncbi.nlm.nih.gov/pubmed/30450804 TARPS A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28. MIM:311510 Laxova-Opitz syndrome early-onset parkinsonism-intellectual disability syndrome disease_ontology DOID:0111781 Waisman syndrome DOID:0111781 A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/25434005 A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. ORDO:364541 OPD spectrum disorder OPSD fronto-otopalatodigital osteodysplasia disease_ontology DOID:0111782 otopalatodigital syndrome spectrum disorder DOID:0111782 A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/10706363 url:https://www.ncbi.nlm.nih.gov/pubmed/16926860 url:https://www.ncbi.nlm.nih.gov/pubmed/20301567 OPSD An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28. GARD:5121 MESH:C536065 MIM:311300 NCI:C118845 ORDO:90650 SNOMEDCT_US_2023_03_01:54036001 UMLS_CUI:C0265251 OPD I syndrome OPD syndrome 1 OPD1 Taybi syndrome oto-palato-digital syndrome type 1 otopalatodigital syndrome type I disease_ontology DOID:0111783 otopalatodigital syndrome type 1 DOID:0111783 An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/12612583 url:https://www.ncbi.nlm.nih.gov/pubmed/20301567 OPD1 An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. GARD:5802 MESH:C538089 MIM:304120 ORDO:90652 SNOMEDCT_US_2023_03_01:42432003 UMLS_CUI:C1844696 Andre syndrome OPD II syndrome OPD syndrome 2 OPD2 faciopalatoosseous syndrome oto-palato-digital syndrome type 2 otopalatodigital syndrome type II disease_ontology DOID:0111784 otopalatodigital syndrome type 2 DOID:0111784 An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. url:https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-2 url:https://www.ncbi.nlm.nih.gov/pubmed/12612583 url:https://www.ncbi.nlm.nih.gov/pubmed/15654694 OPD2 An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss. GARD:826 MESH:C538064 MIM:PS305620 ORDO:1826 SNOMEDCT_US_2023_03_01:62803002 UMLS_CUI:C0265293 FMD disease_ontology DOID:0111785 frontometaphyseal dysplasia DOID:0111785 An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss. url:https://www.ncbi.nlm.nih.gov/pubmed/12612583 url:https://www.ncbi.nlm.nih.gov/pubmed/15523633 FMD A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28. MIM:305620 FMD1 disease_ontology DOID:0111786 frontometaphyseal dysplasia 1 DOID:0111786 A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/12612583 url:https://www.ncbi.nlm.nih.gov/pubmed/15523633 FMD1 A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15. MIM:617137 FMD2 disease_ontology DOID:0111787 frontometaphyseal dysplasia 2 DOID:0111787 A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15. url:https://www.ncbi.nlm.nih.gov/pubmed/27426733 FMD2 An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. GARD:7011 MEDDRA:10060908 MESH:D010009 MIM:309350 ORDO:1826 SNOMEDCT_US_2023_03_01:13449007 UMLS_CUI:C0025237 MNS Melnick-Needles osteodysplasty osteodysplasty of Melnick and Needles disease_ontology DOID:0111788 Melnick-Needles syndrome DOID:0111788 An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. url:https://ghr.nlm.nih.gov/condition/melnick-needles-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/12612583 url:https://www.ncbi.nlm.nih.gov/pubmed/16538226 MNS An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. GARD:5138 MESH:C537274 MIM:249420 ORDO:137834 SNOMEDCT_US_2023_03_01:720958002 UMLS_CUI:C1855305 Borrone dermatocardioskeletal syndrome FTHS Ter Haar syndrome autosomal recessive Melnick-Needles syndrome megalocornea, multiple skeletal anomalies, and developmental delay disease_ontology DOID:0111789 Frank-Ter Haar syndrome DOID:0111789 An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. url:https://www.ncbi.nlm.nih.gov/pubmed/15523657 url:https://www.ncbi.nlm.nih.gov/pubmed/20137777 FTHS A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2. GARD:2969 MIM:310700 NYS1 X-linked infantile nystagmus 1 congenital motor nystagmus 1 disease_ontology DOID:0111790 congenital nystagmus 1 DOID:0111790 A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17013395 NYS1 A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1. MIM:614826 NYS7 autosomal dominant congenital nystagmus 7 disease_ontology DOID:0111791 congenital nystagmus 7 DOID:0111791 A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1. url:https://www.ncbi.nlm.nih.gov/pubmed/22065086 NYS7 A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12. GARD:9599 MIM:164100 NYS2 autosomal dominant congenital nystagmus 2 congenital motor nystagmus 2 disease_ontology DOID:0111792 congenital nystagmus 2 DOID:0111792 A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12. url:https://www.ncbi.nlm.nih.gov/pubmed/8661013 NYS2 A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2. GARD:9600 MIM:608345 NYS3 autosomal dominant congenital nystagmus 3 disease_ontology DOID:0111793 congenital nystagmus 3 DOID:0111793 A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/9806847 NYS3 A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 13q31-q33. disease_ontology DOID:0111794 obsolete congenital nystagmus 4 true DOID:0111794 A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 13q31-q33. url:https://www.ncbi.nlm.nih.gov/pubmed/12525540 A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2. MIM:300814 NYS6 X-linked congenital nystagmus 6 disease_ontology DOID:0111795 congenital nystagmus 6 DOID:0111795 A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17516023 NYS6 A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4. MIM:300589 NYS5 X-linked congenital nystagmus 5 disease_ontology DOID:0111796 congenital nystagmus 5 DOID:0111796 A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4. url:https://www.ncbi.nlm.nih.gov/pubmed/10090899 NYS5 A congenital nystagmus characterized by autosomal recessive inheritance. GARD:9609 MIM:257400 autosomal recessive congenital motor nystagmus disease_ontology DOID:0111797 autosomal recessive congenital nystagmus DOID:0111797 A congenital nystagmus characterized by autosomal recessive inheritance. url:https://europepmc.org/article/med/305814 A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23. MIM:310468 NPHL1 X-linked nephrolithiasis with renal failure X-linked recessive urolithiasis type 1 XRN nephrolithiasis 1 nephrolithiasis X-linked recessive type 1 disease_ontology DOID:0111798 X-linked nephrolithiasis type I DOID:0111798 A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23. url:https://www.ncbi.nlm.nih.gov/pubmed/15558518 url:https://www.ncbi.nlm.nih.gov/pubmed/8559248 NPHL1 XRN A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. DOID:0111810 syndromic microphthalmia 4 GARD:5066 GARD:87 MIM:309800 ORDO:568 ORDO:85275 SNOMEDCT_US_2023_03_01:717222003 UMLS_CUI:C1844948 Lenz dysplasia Lenz microphthalmia Lenz type microphthalmia MCOPS1 disease_ontology DOID:0111799 In OMIM, a form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1. Type 4 obsoleted by OMIM, merged into type 1 [LS]. syndromic microphthalmia 1 MESH:C537464 DOID:0111799 A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. url:https://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome url:https://pubmed.ncbi.nlm.nih.gov/30842225/ url:https://www.ncbi.nlm.nih.gov/pubmed/13300470 url:https://www.ncbi.nlm.nih.gov/pubmed/24431331 MCOPS1 A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2. GARD:13235 MIM:615524 MCOPS12 microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects disease_ontology DOID:0111800 syndromic microphthalmia 12 DOID:0111800 A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17506106 url:https://www.ncbi.nlm.nih.gov/pubmed/24075189 MCOPS12 A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33. GARD:1443 MESH:C565948 MIM:206900 ORDO:77298 SNOMEDCT_US_2023_03_01:698851003 UMLS_CUI:C1859773 AEG syndrome MCOPS3 SOX2 anophthalmia syndrome anophthalmia clinical with associated anomalies anophthalmia esophageal genital syndrome anophthalmia microphthalmia esophageal atresia anophthalmia/microphthalmia-esophageal atresia syndrome microphthalmia and esophageal atresia syndrome syndromic microphthalmia type 3 disease_ontology DOID:0111801 syndromic microphthalmia 3 DOID:0111801 A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33. url:https://www.ncbi.nlm.nih.gov/pubmed/12612584 url:https://www.ncbi.nlm.nih.gov/pubmed/20803647 MCOPS3 A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. MIM:615877 ORDO:424099 MCOPS14 MCSKS colobomatous microphthalmia-rhizomelic dysplasia syndrome microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia microphthalmia/coloboma and skeletal dysplasia syndrome disease_ontology DOID:0111802 syndromic microphthalmia 14 DOID:0111802 A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. url:https://www.ncbi.nlm.nih.gov/pubmed/24906020 MCOPS14 MCSKS A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21. GARD:3693 MESH:C537686 MIM:601349 ORDO:3434 SNOMEDCT_US_2023_03_01:715533002 UMLS_CUI:C1832440 MCOPS8 MMEP syndrome Viljoen-Smart syndrome microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome syndromic microphthalmia type 8 disease_ontology DOID:0111803 syndromic microphthalmia 8 DOID:0111803 A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21. url:https://www.ncbi.nlm.nih.gov/pubmed/12471201 MCOPS8 A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3. MIM:614402 MCOPS11 disease_ontology DOID:0111804 syndromic microphthalmia 11 DOID:0111804 A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3. url:https://www.ncbi.nlm.nih.gov/pubmed/22095910 MCOPS11 A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2. GARD:3645 MESH:C566440 MIM:607932 ORDO:139471 SNOMEDCT_US_2023_03_01:721878003 UMLS_CUI:C1864689 Bakrania-Ragge syndrome MCOPS6 anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia microphthalmia and pituitary anomalies microphthalmia with brain and digit anomalies syndromic microphthalmia type 6 disease_ontology DOID:0111805 syndromic microphthalmia 6 DOID:0111805 A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/18252212 url:https://www.ncbi.nlm.nih.gov/pubmed/21340693 MCOPS6 A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3. GARD:3692 MESH:C566441 MIM:610125 ORDO:178364 SNOMEDCT_US_2023_03_01:718761007 UMLS_CUI:C1864690 MCOPS5 syndromic microphthalmia type 5 syndromic microphthalmia/anophthalmia due to OTX2 mutation disease_ontology DOID:0111806 syndromic microphthalmia 5 DOID:0111806 A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15846561 MCOPS5 A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1. DOID:0050819 MESH:C537768 MIM:601186 ORDO:2470 SNOMEDCT_US_2023_03_01:722458000 UMLS_CUI:C1832661 Matthew-Wood syndrome anophthalmia-pulmonary hypoplasia syndrome anophthalmia/microphthalmia and pulmonary hypoplasia clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations pulmonary agenesis microphthalmi and diaphragmatic defect spear syndrome disease_ontology DOID:0111807 syndromic microphthalmia 9 DOID:0111807 A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1. url:https://www.ncbi.nlm.nih.gov/pubmed/17236193 url:https://www.ncbi.nlm.nih.gov/pubmed/17273977 url:https://www.ncbi.nlm.nih.gov/pubmed/26373900 A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2. MESH:C537466 MIM:309801 SNOMEDCT_US_2021_09_01:721879006 MCOPS7 MIDAS syndrome Microphthalmia with linear skin defect syndrome microphthalmia-dermal aplasia-sclerocornea syndrome syndromic microphthalmia 7 syndromic microphthalmia type 7 disease_ontology DOID:0111808 linear skin defects with multiple congenital anomalies 1 DOID:0111808 A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/17033964 MCOPS7 A syndromic microphthalmia characterized by ocular defects including microphthalmia, microcornea, and congentital cataract; facial dysmorphism including septate nasal cartilage with high nasal bridge; congenital heart defects, most commonly a septal defect; and dental anomalies, most commonly persistent primary teeth and radiculomegaly that has_material_basis_in mutation in the BCL6 corepressor gene on chromosome Xp11. GARD:4628 MESH:C537465 MIM:300166 ORDO:2712 SNOMEDCT_US_2023_03_01:699300009 UMLS_CUI:C1846265 ANOP2 MAA2 MCOPS2 OFCD syndrome cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome microphthalmia cataracts radiculomegaly and septal heart defects oculofaciocardiodental syndrome syndromic microphthalmia type 2 disease_ontology DOID:0111809 syndromic microphthalmia 2 DOID:0111809 A syndromic microphthalmia characterized by ocular defects including microphthalmia, microcornea, and congentital cataract; facial dysmorphism including septate nasal cartilage with high nasal bridge; congenital heart defects, most commonly a septal defect; and dental anomalies, most commonly persistent primary teeth and radiculomegaly that has_material_basis_in mutation in the BCL6 corepressor gene on chromosome Xp11. url:https://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome url:https://pubmed.ncbi.nlm.nih.gov/19367324/ url:https://www.ncbi.nlm.nih.gov/pubmed/15004558 url:https://www.ncbi.nlm.nih.gov/pubmed/8723122 ANOP2 MAA2 MCOPS2 A syndromic microphthalmia characterized by clinical anophthalmia, ankyloblepharon, and intellectual deficit that has_material_basis_in hemizygous or homozygous mutation in a region of chromosome Xq27-q28. MCOPS4 disease_ontology DOID:0111810 obsolete syndromic microphthalmia 4 true DOID:0111810 A syndromic microphthalmia characterized by clinical anophthalmia, ankyloblepharon, and intellectual deficit that has_material_basis_in hemizygous or homozygous mutation in a region of chromosome Xq27-q28. url:https://www.ncbi.nlm.nih.gov/pubmed/1679229 A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28. MIM:300915 ORDO:431140 MCOPS13 Maine microphthalmos X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation disease_ontology DOID:0111811 syndromic microphthalmia 13 DOID:0111811 A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/24993872 url:https://www.ncbi.nlm.nih.gov/pubmed/4998085 MCOPS13 A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability. GARD:9292 MIM:611222 ORDO:77299 MCOPS10 MOBA microphthalmia-brain atrophy syndrome disease_ontology DOID:0111812 syndromic microphthalmia 10 DOID:0111812 A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability. url:https://www.ncbi.nlm.nih.gov/pubmed/16566018 MCOPS10 MOBA A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1. GARD:3559 MESH:C564100 MIM:309630 ORDO:2498 SNOMEDCT_US_2023_03_01:715442006 UMLS_CUI:C1839728 fusion of metacarpals 4 and 5 metacarpal 4-5 fusion disease_ontology DOID:0111813 syndactyly type 8 DOID:0111813 A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/23709756 A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. MIM:309541 ORDO:369962 combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX mental retardation, X-linked 3 methylmalonic aciduria with homocystinuria, type cblX disease_ontology DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type DOID:0111814 A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/23000143 url:https://www.ncbi.nlm.nih.gov/pubmed/24011988 A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22. MIM:308990 disease_ontology DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis DOID:0111815 A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22. url:https://www.ncbi.nlm.nih.gov/pubmed/9062355 A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36. GARD:5081 MIM:185900 ORDO:93402 SDTY1 chromosome 2q35 duplication syndrome syndactyly, type 1, with or without craniosynostosis disease_ontology DOID:0111816 syndactyly type 1 DOID:0111816 A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36. url:https://www.ncbi.nlm.nih.gov/pubmed/21167467 url:https://www.ncbi.nlm.nih.gov/pubmed/7915184 SDTY1 A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31. GARD:5088 MESH:C538154 MIM:186100 ORDO:93404 SNOMEDCT_US_2023_03_01:715725001 UMLS_CUI:C1861366 SDTY3 ringand little finger syndactyly syndactyly of fingers 4 and 5 syndactyly, type III disease_ontology DOID:0111817 syndactyly type 3 DOID:0111817 A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31. url:https://www.ncbi.nlm.nih.gov/pubmed/12457340 url:https://www.ncbi.nlm.nih.gov/pubmed/14361398 SDTY3 A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3. GARD:4434 MESH:C566092 MIM:186200 ORDO:93405 SNOMEDCT_US_2023_03_01:719158007 UMLS_CUI:C1861355 Haas type syndactyly SDTY4 polysyndactyly, Haas type disease_ontology DOID:0111818 syndactyly type 4 DOID:0111818 A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3. url:https://www.ncbi.nlm.nih.gov/pubmed/17476456 SDTY4 A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.1. GARD:5089 MESH:C538155 MIM:186300 ORDO:93406 SNOMEDCT_US_2023_03_01:719159004 UMLS_CUI:C1861348 SDTY5 syndactyly with associated metacarpal and metatarsal fusion disease_ontology DOID:0111819 syndactyly type 5 DOID:0111819 A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.1. url:https://www.ncbi.nlm.nih.gov/pubmed/16222680 SDTY5 A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement. MESH:C565223 MIM:609815 disease_ontology DOID:0111820 zygodactyly 1 DOID:0111820 A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement. url:https://www.ncbi.nlm.nih.gov/pubmed/16189548 url:https://www.ncbi.nlm.nih.gov/pubmed/27072775 A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12. GARD:2952 MESH:C536085 MIM:308205 ORDO:2273 UMLS_CUI:C1839988 IFAP syndrome 1 IFAP syndrome 1 with or without BRESHECK syndrome ichthyosis follicularis-atrichia-photophobia syndrome 1 disease_ontology DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 DOID:0111821 A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12. url:https://www.ncbi.nlm.nih.gov/pubmed/22105905 url:https://www.ncbi.nlm.nih.gov/pubmed/4037843 A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28. GARD:6039 MESH:C562515 MIM:308050 ORDO:139 SNOMEDCT_US_2023_03_01:17608003 UMLS_CUI:C0265267 CHILD nevus congenital hemidysplasia with ichthyosiform nevus and limbs defects disease_ontology DOID:0111822 CHILD syndrome DOID:0111822 A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/7408908 A hemophilia characterized by autosomal inheritance of a Factor VIII deficiency. MIM:134500 autosomal Factor VIII deficiency disease_ontology DOID:0111823 autosomal hemophilia A DOID:0111823 A hemophilia characterized by autosomal inheritance of a Factor VIII deficiency. url:https://www.ncbi.nlm.nih.gov/pubmed/1169993 A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature. ORDO:915 faciodigitogenital syndrome faciogenital dysplasia disease_ontology DOID:0111824 Aarskog syndrome DOID:0111824 A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature. url:https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome An Aarskog syndrome characterized by autosomal dominant inheritance. MIM:100050 disease_ontology DOID:0111825 autosomal dominant Aarskog syndrome DOID:0111825 An Aarskog syndrome characterized by autosomal dominant inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/6344635 A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1. GARD:360 MESH:C535559 MIM:302905 ORDO:921 SNOMEDCT_US_2023_03_01:718574003 UMLS_CUI:C1844862 CHARGE-like syndrome, X-linked cleft palate-coloboma-deafness syndrome disease_ontology DOID:0111826 Abruzzo-Erickson syndrome DOID:0111826 A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/22784330 url:https://www.ncbi.nlm.nih.gov/pubmed/839509 A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. GARD:8521 MESH:C535380 MIM:301830 ORDO:1145 SNOMEDCT_US_2023_03_01:719836007 UMLS_CUI:C1844934 SMAX2 X-linked distal arthrogryposis multiplex congenita X-linked spinal muscular atrophy type 2 infantile-onset X-linked spinal muscular atrophy spinal muscular atrophy with arthrogryposis disease_ontology DOID:0111827 X-linked spinal muscular atrophy 2 DOID:0111827 A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. url:https://ghr.nlm.nih.gov/condition/x-linked-infantile-spinal-muscular-atrophy url:https://www.ncbi.nlm.nih.gov/pubmed/18179898 url:https://www.ncbi.nlm.nih.gov/pubmed/3341327 SMAX2 A hereditary ataxia characterized by X-linked inheritance. ORDO:247765 disease_ontology DOID:0111828 X-linked cerebellar ataxia DOID:0111828 A hereditary ataxia characterized by X-linked inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/10807077 An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. MIM:302500 ORDO:1175 SCAX1 X-linked progressive cerebellar ataxia disease_ontology DOID:0111829 X-linked spinocerebellar ataxia 1 DOID:0111829 An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. url:https://www.ncbi.nlm.nih.gov/pubmed/10797423 url:https://www.ncbi.nlm.nih.gov/pubmed/22912398 SCAX1 An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance. GARD:9978 MIM:302600 SCAX2 cerebellar ataxia with extrapyramidal involvement early-onset disease_ontology DOID:0111830 X-linked spinocerebellar ataxia 2 DOID:0111830 An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/13541590 SCAX2 An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance. GARD:9981 MESH:C537315 MIM:301790 ORDO:85297 SNOMEDCT_US_2021_09_01:719817002 SCAX3 X-linked ataxia-deafness syndrome X-linked spinocerebellar ataxia type 3 disease_ontology DOID:0111831 X-linked spinocerebellar ataxia 3 DOID:0111831 An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/3614654 SCAX3 An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance. GARD:9980 MESH:C537316 MIM:301840 ORDO:85292 SNOMEDCT_US_2021_09_01:719818007 SCAX4 X-linked ataxia-dementia syndrome X-linked spinocerebellar ataxia type 4 disease_ontology DOID:0111832 X-linked spinocerebellar ataxia 4 DOID:0111832 An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance. url:https://www.ncbi.nlm.nih.gov/pubmed/3470628 SCAX4 An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. MESH:C567478 MIM:300703 ORDO:314978 UMLS_CUI:C2678048 SCAX5 Spinocerebellar Ataxia, X-Linked 5 X-linked non progressive cerebellar ataxia disease_ontology DOID:0111833 X-linked spinocerebellar ataxia 5 DOID:0111833 An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. url:https://www.ncbi.nlm.nih.gov/pubmed/18241076 SCAX5 A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3. MESH:C564461 MIM:301220 ORDO:85453 SNOMEDCT_US_2023_03_01:717224002 UMLS_CUI:C1845050 Partington disease X-linked reticulate pigmentary disorder with systemic manifestations disease_ontology DOID:0111834 X-linked reticulate pigmentary disorder DOID:0111834 A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/27019227 A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3. MIM:301035 CHNG9 disease_ontology DOID:0111835 congenital nongoitrous hypothyroidism 9 DOID:0111835 A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/30061370 CHNG9 A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1. MIM:618573 ORDO:99832 CHNG7 TRH resistance syndrome central hypothyroidism due to TRH receptor deficiency resistance to thyrotropin-releasing hormone syndrome disease_ontology DOID:0111836 congenital nongoitrous hypothyroidism 7 DOID:0111836 A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1. url:https://www.ncbi.nlm.nih.gov/pubmed/9141550 CHNG7 A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2. MIM:301033 CHNG8 disease_ontology DOID:0111837 congenital nongoitrous hypothyroidism 8 DOID:0111837 A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/27603907 CHNG8 A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2. MIM:301032 MRXS36 X-linked syndromic mental retardation 36 X-linked syndromic mental retardation Basilicata-Akhtar type disease_ontology DOID:0111838 Basilicata-Akhtar syndrome DOID:0111838 A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2. url:https://www.ncbi.nlm.nih.gov/pubmed/30224647 MRXS36 A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1. MIM:301031 congenital disorder of glycosylation type Icc disease_ontology DOID:0111839 congenital disorder of glycosylation Icc DOID:0111839 A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1. url:https://www.ncbi.nlm.nih.gov/pubmed/31036665 A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. MIM:301030 ORDO:163976 MRXSVEOD VEODS X-linked intellectual disability, Van Esch type X-linked syndromic mental retardation Van Esch-O'Driscoll type disease_ontology DOID:0111840 Van Esch-O'Driscoll syndrome DOID:0111840 A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/31006512 MRXSVEOD VEODS A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1. MIM:301029 SHUVER disease_ontology DOID:0111841 Shukla-Vernon syndrome DOID:0111841 A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1. url:https://www.ncbi.nlm.nih.gov/pubmed/30941876 SHUVER A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2. GARD:267 MESH:C538337 MIM:301026 NCI:C186306 ORDO:2662 SNOMEDCT_US_2023_03_01:763774001 UMLS_CUI:C1850627 KPTS nasodigitoacoustic syndrome disease_ontology DOID:0111842 Keipert syndrome DOID:0111842 A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2. url:https://www.ncbi.nlm.nih.gov/pubmed/30982611 KPTS A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. MIM:301025 MRXSPM disease_ontology DOID:0111843 Paganini-Miozzo syndrome DOID:0111843 A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. url:https://www.ncbi.nlm.nih.gov/pubmed/30471091 MRXSPM A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3. MIM:301024 MRX108 disease_ontology DOID:0111844 X-linked intellectual developmental disorder 108 DOID:0111844 A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3. url:https://www.ncbi.nlm.nih.gov/pubmed/30335141 MRX108 A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. MIM:301022 MKMS NEDXCF X-linked neurodevelopmental disorder with craniofacial abnormalities disease_ontology DOID:0111845 Mullegama-Klein-Martinez syndrome DOID:0111845 A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. url:https://www.ncbi.nlm.nih.gov/pubmed/28296084 url:https://www.ncbi.nlm.nih.gov/pubmed/30765867 MKMS NEDXCF A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in the ATP11C gene on chromosome Xq27.1. MIM:301015 disease_ontology DOID:0111846 X-linked congenital hemolytic anemia DOID:0111846 A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in the ATP11C gene on chromosome Xq27.1. url:https://www.ncbi.nlm.nih.gov/pubmed/26944472 An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12. MIM:301014 OI19 osteogenesis imperfecta type XIX disease_ontology DOID:0111847 osteogenesis imperfecta type 19 DOID:0111847 An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12. url:https://www.ncbi.nlm.nih.gov/pubmed/27380894 OI19 An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1. MIM:617952 OI18 osteogenesis imperfecta, type XVIII disease_ontology DOID:0111848 osteogenesis imperfecta type 18 DOID:0111848 An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1. url:https://www.ncbi.nlm.nih.gov/pubmed/29358272 OI18 An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1. MIM:618644 OI20 osteogenesis imperfecta type XX disease_ontology DOID:0111849 osteogenesis imperfecta type 20 DOID:0111849 An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/31564437 OI20 A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3. MIM:300991 CILD36 X-linked primary ciliary dyskinesia 36 disease_ontology DOID:0111850 primary ciliary dyskinesia 36 DOID:0111850 A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/28041644 CILD36 A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1. MIM:618781 CILD44 primary ciliary dyskinesia 44 without situs inversus disease_ontology DOID:0111851 primary ciliary dyskinesia 44 DOID:0111851 A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1. url:https://www.ncbi.nlm.nih.gov/pubmed/31959991 CILD44 A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1. MIM:618063 CILD38 primary ciliary dyskinesia 38 with or without situs inversus disease_ontology DOID:0111852 primary ciliary dyskinesia 38 DOID:0111852 A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1. url:https://www.ncbi.nlm.nih.gov/pubmed/29727692 url:https://www.ncbi.nlm.nih.gov/pubmed/29727693 CILD38 A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. MIM:618300 CILD40 primary ciliary dyskinesia 40 with or without situs inversus disease_ontology DOID:0111853 primary ciliary dyskinesia 40 DOID:0111853 A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. url:https://www.ncbi.nlm.nih.gov/pubmed/30471717 url:https://www.ncbi.nlm.nih.gov/pubmed/30471718 CILD40 A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5. MIM:618254 CILD39 primary ciliary dyskinesia 39 with or without situs inversus disease_ontology DOID:0111854 primary ciliary dyskinesia 39 DOID:0111854 A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5. url:https://www.ncbi.nlm.nih.gov/pubmed/30388400 CILD39 A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2. MIM:618695 CILD42 primary ciliary dyskinesia 42 without situs inversus disease_ontology DOID:0111855 primary ciliary dyskinesia 42 DOID:0111855 A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2. url:https://www.ncbi.nlm.nih.gov/pubmed/25048963 CILD42 A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1. MIM:618699 CILD43 primary ciliary dyskinesia 43 with or without situs inversus disease_ontology DOID:0111856 primary ciliary dyskinesia 43 DOID:0111856 A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1. url:https://www.ncbi.nlm.nih.gov/pubmed/31630787 CILD43 A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. MIM:618801 CILD45 primary ciliary dyskinesia 45 without situs inversus disease_ontology DOID:0111857 primary ciliary dyskinesia 45 DOID:0111857 A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. url:https://www.ncbi.nlm.nih.gov/pubmed/31978331 CILD45 A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12. MIM:618449 CILD41 disease_ontology DOID:0111858 primary ciliary dyskinesia 41 DOID:0111858 A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12. url:https://www.ncbi.nlm.nih.gov/pubmed/30665704 CILD41 A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23. MIM:300990 MFHIEN disease_ontology DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis DOID:0111859 A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23. url:https://pubmed.ncbi.nlm.nih.gov/27811305/ MFHIEN A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. MESH:C564570 MIM:300194 ORDO:86818 SNOMEDCT_US_2023_03_01:720982007 UMLS_CUI:C1846242 AMME syndrome ATS-MR Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome chromosome Xq22.3 telomeric deletion syndrome disease_ontology DOID:0111860 AMME complex DOID:0111860 A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. url:https://pubmed.ncbi.nlm.nih.gov/12011158/ ATS-MR A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28. MIM:300989 MRLS disease_ontology DOID:0111861 Meester-Loeys syndrome DOID:0111861 A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28. url:https://pubmed.ncbi.nlm.nih.gov/27632686/ MRLS A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility. MIM:PS277180 ORDO:48 CAVD CBAVD congenital bilateral agenesis of vas deferens congenital bilateral aplasia of vas deferens disease_ontology DOID:0111862 congenital bilateral absence of vas deferens MIM:PS277180 DOID:0111862 A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility. url:https://pubmed.ncbi.nlm.nih.gov/27476656/ CAVD CBAVD A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13. MIM:300985 CBAVDX disease_ontology DOID:0111863 X-linked congenital bilateral absence of vas deferens DOID:0111863 A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13. url:https://pubmed.ncbi.nlm.nih.gov/27476656/ CBAVDX A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2. MIM:277180 disease_ontology DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens DOID:0111864 A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2. url:https://pubmed.ncbi.nlm.nih.gov/7529962/ A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23. MIM:300960 ORDO:401973 UMLS_CUI:C4085243 male EBP disorder with neurological defects disease_ontology DOID:0111865 MEND syndrome DOID:0111865 A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23. url:https://pubmed.ncbi.nlm.nih.gov/22229330/ url:https://pubmed.ncbi.nlm.nih.gov/24700572/ A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections. MESH:D054463 MIM:PS601675 NCI:C4924 ORDO:33364 SNOMEDCT_US_2023_03_01:723551003 UMLS_CUI:C1955934 TTD disease_ontology DOID:0111866 trichothiodystrophy DOID:0111866 A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections. url:https://ghr.nlm.nih.gov/condition/trichothiodystrophy url:https://pubmed.ncbi.nlm.nih.gov/18603627/ TTD A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation. disease_ontology DOID:0111867 nonphotosensitive trichothiodystrophy DOID:0111867 A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation. url:https://ghr.nlm.nih.gov/condition/trichothiodystrophy url:https://pubmed.ncbi.nlm.nih.gov/18603627/ A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24. MESH:D054463 MIM:300953 NCI:C156433 TTD5 disease_ontology DOID:0111868 nonphotosensitive trichothiodystrophy 5 DOID:0111868 A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24. url:https://pubmed.ncbi.nlm.nih.gov/25612912/ url:https://pubmed.ncbi.nlm.nih.gov/31880405/ TTD5 A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3. MIM:616390 TTD2 disease_ontology DOID:0111869 photosensitive trichothiodystrophy 2 DOID:0111869 A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3. url:https://pubmed.ncbi.nlm.nih.gov/9012405/ TTD2 A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3. MIM:618546 TTD7 disease_ontology DOID:0111870 nonphotosensitive trichothiodystrophy 7 DOID:0111870 A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3. url:https://pubmed.ncbi.nlm.nih.gov/31374204/ TTD7 A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3. MIM:616395 TTD3 trichothiodystrophy complementation group A disease_ontology DOID:0111871 photosensitive trichothiodystrophy 3 DOID:0111871 A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3. url:https://pubmed.ncbi.nlm.nih.gov/15220921/ TTD3 A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12. MIM:616943 TTD6 disease_ontology DOID:0111872 nonphotosensitive trichothiodystrophy 6 DOID:0111872 A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12. url:https://pubmed.ncbi.nlm.nih.gov/26996949/ TTD6 A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. MIM:601675 NCI:C156433 TTD1 disease_ontology DOID:0111873 photosensitive trichothiodystrophy 1 DOID:0111873 A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. url:https://pubmed.ncbi.nlm.nih.gov/9195225/ TTD1 A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility. MESH:C536320 MIM:211390 ORDO:3123 brittle hair-mental deficiency syndrome trichothiodystrophy type B disease_ontology DOID:0111874 Sabinas brittle hair syndrome DOID:0111874 A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility. url:https://pubmed.ncbi.nlm.nih.gov/7325159/ A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities. MIM:PS309801 linear skin defects with multiple congenital anomalies disease_ontology DOID:0111875 MLS syndrome DOID:0111875 A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities. url:https://pubmed.ncbi.nlm.nih.gov/20301767/ url:https://www.ncbi.nlm.nih.gov/books/NBK7041/ A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the NDUFB11 gene on chromosome Xp11.3. MIM:300952 LSDMCA3 linear skin defects with cardiomyopathy and other congenital anomalies disease_ontology DOID:0111876 linear skin defects with multiple congenital anomalies 3 DOID:0111876 A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the NDUFB11 gene on chromosome Xp11.3. url:https://pubmed.ncbi.nlm.nih.gov/25772934/ LSDMCA3 A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1. MIM:300887 APLCC LSDMCA2 aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies disease_ontology DOID:0111877 linear skin defects with multiple congenital anomalies 2 DOID:0111877 A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1. url:https://pubmed.ncbi.nlm.nih.gov/23122588/ url:https://pubmed.ncbi.nlm.nih.gov/9747372/ APLCC LSDMCA2 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11. MESH:C567254 MIM:612562 DBA7 RPL11-related Diamond-Blackfan anemia disease_ontology DOID:0111878 Diamond-Blackfan anemia 7 DOID:0111878 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11. url:https://pubmed.ncbi.nlm.nih.gov/19061985/ DBA7 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1. MESH:C538442 MIM:612561 DBA6 RPL5-related Diamond-Blackfan anemia disease_ontology DOID:0111879 Diamond-Blackfan anemia 6 DOID:0111879 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1. url:https://pubmed.ncbi.nlm.nih.gov/19061985/ DBA6 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3. MIM:617409 DBA17 RPS27-related Diamond-Blackfan anemia disease_ontology DOID:0111880 Diamond-Blackfan anemia 17 DOID:0111880 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3. url:https://pubmed.ncbi.nlm.nih.gov/25424902/ DBA17 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3. MESH:C567253 MIM:612563 DBA8 RPS7-related Diamond-Blackfan anemia disease_ontology DOID:0111881 Diamond-Blackfan anemia 8 DOID:0111881 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3. url:https://pubmed.ncbi.nlm.nih.gov/19061985/ DBA8 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL15 gene on chromosome 3p24.2. MIM:615550 DBA12 RPL15-related Diamond-Blackfan anemia disease_ontology DOID:0111882 Diamond-Blackfan anemia 12 DOID:0111882 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL15 gene on chromosome 3p24.2. url:https://pubmed.ncbi.nlm.nih.gov/23812780/ DBA12 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29. MESH:C567280 MIM:612528 DBA5 RPL35A-related Diamond-Blackfan anemia disease_ontology DOID:0111883 Diamond-Blackfan anemia 5 DOID:0111883 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29. url:https://pubmed.ncbi.nlm.nih.gov/18535205/ DBA5 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31. MESH:C567650 MIM:613308 DBA9 RPS10-related Diamond-Blackfan anemia disease_ontology DOID:0111884 Diamond-Blackfan anemia 9 DOID:0111884 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31. url:https://pubmed.ncbi.nlm.nih.gov/20116044/ DBA9 A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22. MESH:C536130 MIM:606129 DBA2 disease_ontology DOID:0111885 Diamond-Blackfan anemia 2 DOID:0111885 A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22. url:https://pubmed.ncbi.nlm.nih.gov/11264183/ DBA2 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35 gene on chromosome 9q33.3. MIM:618312 DBA19 RPL35-related Diamond-Blackfan anemia disease_ontology DOID:0111886 Diamond-Blackfan anemia 19 DOID:0111886 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35 gene on chromosome 9q33.3. url:https://pubmed.ncbi.nlm.nih.gov/28280134/ DBA19 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3. MESH:C536355 MIM:610629 DBA3 RPS24-related Diamond-Blackfan anemia disease_ontology DOID:0111887 Diamond-blackfan anemia 3 DOID:0111887 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3. url:https://pubmed.ncbi.nlm.nih.gov/17186470/ DBA3 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS26 gene on chromosome 12q13.2. MESH:C567649 MIM:613309 DBA10 RPS26-related Diamond-Blackfan anemia disease_ontology DOID:0111888 Diamond-Blackfan anemia 10 DOID:0111888 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS26 gene on chromosome 12q13.2. url:https://pubmed.ncbi.nlm.nih.gov/20116044/ DBA10 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3. MIM:615909 DBA13 RPS29-related Diamond-Blackfan anemia disease_ontology DOID:0111889 Diamond-Blackfan anemia 13 DOID:0111889 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3. url:https://pubmed.ncbi.nlm.nih.gov/24829207/ DBA13 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2. MESH:C567281 MIM:612527 DBA4 RPS17-related Diamond-Blackfan anemia disease_ontology DOID:0111890 Diamond-Blackfan anemia 4 DOID:0111890 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2. url:https://pubmed.ncbi.nlm.nih.gov/17647292/ DBA4 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3. MIM:618313 DBA20 RPS15A-related Diamond-Blackfan anemia disease_ontology DOID:0111891 Diamond-Blackfan anemia 20 DOID:0111891 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3. url:https://pubmed.ncbi.nlm.nih.gov/27909223/ DBA20 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1. MIM:614900 DBA11 RPL26-related Diamond-Blackfan anemia disease_ontology DOID:0111892 Diamond-Blackfan anemia 11 DOID:0111892 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1. url:https://pubmed.ncbi.nlm.nih.gov/22431104/ DBA11 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31. MIM:617408 DBA16 RPL27-related Diamond-Blackfan anemia disease_ontology DOID:0111893 Diamond-Blackfan anemia 16 DOID:0111893 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31. url:https://pubmed.ncbi.nlm.nih.gov/25424902/ DBA16 A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2. MIM:606164 DBA15 disease_ontology DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis DOID:0111894 A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2. url:https://pubmed.ncbi.nlm.nih.gov/24942156/ DBA15 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2. MESH:C567302 MIM:105650 DBA1 RPS19-related Diamond-Blackfan anemia disease_ontology DOID:0111895 Diamond-Blackfan anemia 1 DOID:0111895 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2. url:https://pubmed.ncbi.nlm.nih.gov/9988267/ DBA1 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33. MIM:618310 DBA18 RPL18-related Diamond-Blackfan anemia disease_ontology DOID:0111896 Diamond-Blackfan anemia 18 DOID:0111896 A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33. url:https://pubmed.ncbi.nlm.nih.gov/28280134/ DBA18 A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22. MIM:300946 DBA14 disease_ontology DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis DOID:0111897 A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22. url:https://pubmed.ncbi.nlm.nih.gov/11424144/ url:https://pubmed.ncbi.nlm.nih.gov/24942156/ DBA14 A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28. MIM:300831 ORDO:251383 SNOMEDCT_US_2023_03_01:773329005 UMLS_CUI:C3151781 X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome disease_ontology DOID:0111898 CK syndrome DOID:0111898 A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28. url:https://pubmed.ncbi.nlm.nih.gov/19377476/ url:https://pubmed.ncbi.nlm.nih.gov/21129721/ A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1. MESH:C567581 MIM:300807 UMLS_CUI:C2749016 THPH8 disease_ontology DOID:0111899 X-linked thrombophilia due to factor IX defect DOID:0111899 A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1. url:https://pubmed.ncbi.nlm.nih.gov/19846852/ THPH8 A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1. MIM:612336 UMLS_CUI:C3278211 THPH5 disease_ontology DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency DOID:0111900 A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1. url:https://pubmed.ncbi.nlm.nih.gov/6239102/ url:https://pubmed.ncbi.nlm.nih.gov/7545463/ url:https://pubmed.ncbi.nlm.nih.gov/7780139/ THPH5 A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21. MESH:C562865 MIM:612356 SNOMEDCT_US_2023_03_01:234468009 UMLS_CUI:C0398626 HCF 2 deficiency HCF II deficiency THPH10 thrombophilia due to heparin cofactor II deficiency disease_ontology DOID:0111901 heparin cofactor II deficiency DOID:0111901 A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21. url:https://pubmed.ncbi.nlm.nih.gov/2647747/ url:https://pubmed.ncbi.nlm.nih.gov/8562924/ THPH10 A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2. MESH:C566056 MIM:188055 UMLS_CUI:C1861171 APC resistance PCCF deficiency PROC cofactor deficiency THPH2 activated protein C resistance thrombophilia V thrombophilia due to deficiency of activated protein C cofactor disease_ontology DOID:0111902 thrombophilia due to activated protein C resistance DOID:0111902 A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2. url:https://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia url:https://pubmed.ncbi.nlm.nih.gov/8164741/ url:https://pubmed.ncbi.nlm.nih.gov/8430067/ url:https://pubmed.ncbi.nlm.nih.gov/9454742/ THPH2 A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3. MIM:613116 ORDO:217467 UMLS_CUI:C2751090 THPH11 hereditary thrombophilia due to congenital HRG deficiency hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency disease_ontology DOID:0111903 thrombophilia due to HRG deficiency DOID:0111903 A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3. url:https://pubmed.ncbi.nlm.nih.gov/8236132/ url:https://pubmed.ncbi.nlm.nih.gov/9414276/ THPH11 A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3. MESH:C567353 MIM:612304 UMLS_CUI:C2676759 THPH4 autosomal recessive PROC deficiency autosomal recessive protein C deficiency disease_ontology DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency DOID:0111904 A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3. url:https://pubmed.ncbi.nlm.nih.gov/10942114/ url:https://pubmed.ncbi.nlm.nih.gov/6139528/ THPH4 A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1. MIM:614514 ORDO:743 UMLS_CUI:C3281092 THPH6 autosomal recessive thrombophilia due to congenital protein S deficiency severe hereditary thrombophilia due to congenital protein S deficiency disease_ontology DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency DOID:0111905 A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1. url:https://pubmed.ncbi.nlm.nih.gov/10063989/ url:https://pubmed.ncbi.nlm.nih.gov/20484936/ THPH6 A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls. MESH:C567341 MIM:612348 UMLS_CUI:C2676721 THPH9 disease_ontology DOID:0111906 thrombophilia due to decreased release of PLAT DOID:0111906 A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls. url:https://pubmed.ncbi.nlm.nih.gov/12643326/ url:https://pubmed.ncbi.nlm.nih.gov/665314/ THPH9 A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2. GARD:10815 MIM:188050 UMLS_CUI:C3160733 THPH1 prothrombin-related thrombophilia thrombophilia due to factor 2 defect disease_ontology DOID:0111907 thrombophilia due to thrombin defect DOID:0111907 A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2. url:https://pubmed.ncbi.nlm.nih.gov/11570053/ url:https://pubmed.ncbi.nlm.nih.gov/22716977/ THPH1 A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21. MESH:C566057 MIM:614486 ORDO:436169 SNOMEDCT_US_2023_03_01:1197595004 UMLS_CUI:C3280976 THBD-related bleeding disorder THBD-related coagulopathy THPH12 thrombomodulin-related bleeding disorder thrombomodulin-related coagulopathy disease_ontology DOID:0111908 thrombophilia due to thrombomodulin defect DOID:0111908 A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21. url:https://pubmed.ncbi.nlm.nih.gov/22036808/ THPH12 A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. MESH:C567163 MIM:176860 UMLS_CUI:C2674321 THPH3 autosomal dominant PROC deficiency autosomal dominant protein C deficiency disease_ontology DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency DOID:0111909 A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. url:https://pubmed.ncbi.nlm.nih.gov/10942114/ url:https://pubmed.ncbi.nlm.nih.gov/2437584/ url:https://pubmed.ncbi.nlm.nih.gov/6547008/ THPH3 A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa. MIM:PS258150 SPGF disease_ontology DOID:0111910 spermatogenic failure DOID:0111910 A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa. url:https://pubmed.ncbi.nlm.nih.gov/30656449/ SPGF A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the FSIP2 gene on chromosome 2q32.1. MIM:618153 SPGF34 disease_ontology DOID:0111911 spermatogenic failure 34 DOID:0111911 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the FSIP2 gene on chromosome 2q32.1. url:https://pubmed.ncbi.nlm.nih.gov/30137358/ SPGF34 A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP70 gene on chromosome 10q22.2. MIM:618670 SPGF41 disease_ontology DOID:0111912 spermatogenic failure 41 DOID:0111912 A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP70 gene on chromosome 10q22.2. url:https://pubmed.ncbi.nlm.nih.gov/31621862/ SPGF41 A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TDRD9 gene on chromosome 14q32.33. MIM:618110 SPGF30 disease_ontology DOID:0111913 spermatogenic failure 30 DOID:0111913 A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TDRD9 gene on chromosome 14q32.33. url:https://pubmed.ncbi.nlm.nih.gov/28536242/ SPGF30 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the QRICH2 gene on chromosome 17q25.1. MIM:618341 SPGF35 disease_ontology DOID:0111914 spermatogenic failure 35 DOID:0111914 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the QRICH2 gene on chromosome 17q25.1. url:https://pubmed.ncbi.nlm.nih.gov/30683861/ SPGF35 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the WDR66 gene on chromosome 12q24.31. MIM:618152 SPGF33 disease_ontology DOID:0111915 spermatogenic failure 33 DOID:0111915 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the WDR66 gene on chromosome 12q24.31. url:https://pubmed.ncbi.nlm.nih.gov/30122540/ SPGF33 A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2. MIM:618086 SPGF28 disease_ontology DOID:0111916 spermatogenic failure 28 DOID:0111916 A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2. url:https://pubmed.ncbi.nlm.nih.gov/30075111/ SPGF28 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the SPEF2 gene on chromosome 5p13.2. MIM:618751 SPGF43 disease_ontology DOID:0111917 spermatogenic failure 43 DOID:0111917 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the SPEF2 gene on chromosome 5p13.2. url:https://pubmed.ncbi.nlm.nih.gov/31048344/ url:https://pubmed.ncbi.nlm.nih.gov/31151990/ SPGF43 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP65 gene on chromosome 2q35. MIM:618664 SPGF40 disease_ontology DOID:0111918 spermatogenic failure 40 DOID:0111918 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP65 gene on chromosome 2q35. url:https://pubmed.ncbi.nlm.nih.gov/31413122/ SPGF40 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC2 gene on chromosome 6q21. MIM:618433 SPGF38 disease_ontology DOID:0111919 spermatogenic failure 38 DOID:0111919 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC2 gene on chromosome 6q21. url:https://pubmed.ncbi.nlm.nih.gov/30686508/ SPGF38 A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TEX15 gene on chromosome 8p12. MIM:617960 SPGF25 disease_ontology DOID:0111920 spermatogenic failure 25 DOID:0111920 A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TEX15 gene on chromosome 8p12. url:https://pubmed.ncbi.nlm.nih.gov/26199321/ SPGF25 A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in the PPP2R3C gene on chromosome 14q13.2. MIM:618420 SPGF36 disease_ontology DOID:0111921 spermatogenic failure 36 DOID:0111921 A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in the PPP2R3C gene on chromosome 14q13.2. url:https://pubmed.ncbi.nlm.nih.gov/30893644/ SPGF36 A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2. MIM:618112 SPGF31 disease_ontology DOID:0111922 spermatogenic failure 31 DOID:0111922 A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2. url:https://pubmed.ncbi.nlm.nih.gov/30032984/ SPGF31 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC29 gene on chromosome 4q31.22. MIM:618745 SPGF42 disease_ontology DOID:0111923 spermatogenic failure 42 DOID:0111923 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC29 gene on chromosome 4q31.22. url:https://pubmed.ncbi.nlm.nih.gov/31735292/ url:https://pubmed.ncbi.nlm.nih.gov/31735294/ SPGF42 A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in the TSGA10 gene on chromosome 2q11.2. MIM:617961 SPGF26 disease_ontology DOID:0111924 spermatogenic failure 26 DOID:0111924 A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in the TSGA10 gene on chromosome 2q11.2. url:https://pubmed.ncbi.nlm.nih.gov/28905369/ SPGF26 A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in the SOHLH1 gene on chromosome 9q34.3. MIM:618115 SPGF32 disease_ontology DOID:0111925 spermatogenic failure 32 DOID:0111925 A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in the SOHLH1 gene on chromosome 9q34.3. url:https://pubmed.ncbi.nlm.nih.gov/20506135/ SPGF32 A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH17 gene on chromosome 17q25.3. MIM:618643 SPGF39 disease_ontology DOID:0111926 spermatogenic failure 39 DOID:0111926 A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH17 gene on chromosome 17q25.3. url:https://pubmed.ncbi.nlm.nih.gov/31178125/ SPGF39 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21A gene on chromosome 3p22.2. MIM:618429 SPGF37 disease_ontology DOID:0111927 spermatogenic failure 37 DOID:0111927 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21A gene on chromosome 3p22.2. url:https://pubmed.ncbi.nlm.nih.gov/30929735/ SPGF37 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2. MIM:617965 SPGF27 disease_ontology DOID:0111928 spermatogenic failure 27 DOID:0111928 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2. url:https://pubmed.ncbi.nlm.nih.gov/29365104/ SPGF27 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP69 gene on chromosome 7q21.13. MIM:617959 SPGF24 disease_ontology DOID:0111929 spermatogenic failure 24 DOID:0111929 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP69 gene on chromosome 7q21.13. url:https://pubmed.ncbi.nlm.nih.gov/29606301/ SPGF24 A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in the SPINK2 gene on chromosome 4q12. MIM:618091 SPGF29 disease_ontology DOID:0111930 spermatogenic failure 29 DOID:0111930 A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in the SPINK2 gene on chromosome 4q12. url:https://pubmed.ncbi.nlm.nih.gov/28554943/ SPGF29 A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28. GARD:10295 MESH:C567475 MIM:300707 ORDO:140952 SNOMEDCT_US_2023_03_01:723581006 UMLS_CUI:C2678045 STAR syndrome syndactyly with renal and anogenital malformations toe syndactyly, telecanthus, and anogenital and renal malformations disease_ontology DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome DOID:0111931 A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28. url:https://pubmed.ncbi.nlm.nih.gov/18297069/ url:https://pubmed.ncbi.nlm.nih.gov/8818947/ A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28. MESH:C566878 MIM:300673 NCI:C132293 ORDO:209370 SNOMEDCT_US_2023_03_01:711487002 UMLS_CUI:C1968556 neonatal severe encephalopathy due to MECP2 mutations severe neonatal-onset encephalopathy with microcephaly disease_ontology DOID:0111932 severe congenital encephalopathy due to MECP2 mutation DOID:0111932 A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28. url:https://ghr.nlm.nih.gov/condition/mecp2-related-severe-neonatal-encephalopathy url:https://pubmed.ncbi.nlm.nih.gov/12615169/ A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. GARD:7389 MESH:C567067 MIM:300653 NCI:C126738 ORDO:713 UMLS_CUI:C1970848 GSD due to phosphoglycerate kinase 1 deficiency PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency disease_ontology DOID:0111933 phosphoglycerate kinase 1 deficiency DOID:0111933 A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. url:https://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency url:https://pubmed.ncbi.nlm.nih.gov/16567715/ url:https://pubmed.ncbi.nlm.nih.gov/4230542/ A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33. MIM:616126 ORDO:319563 IMD38 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency autosomal recessive ISG15 deficiency immunodeficiency 38 with basal ganglia calcification immunodeficiency 38, mycobacteriosis, autosomal recessive disease_ontology DOID:0111934 immunodeficiency 38 DOID:0111934 A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33. url:https://pubmed.ncbi.nlm.nih.gov/22859821/ url:https://pubmed.ncbi.nlm.nih.gov/25307056/ IMD38 A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. MIM:615593 ORDO:431149 UMLS_CUI:C3810053 IMD16 OX40 deficiency combined immunodeficiency due to OX40 deficiency combined immunodeficiency with childhood-onset Kaposi sarcoma combined immunodeficiency with impaired immunity to HHV-8 combined immunodeficiency with impaired immunity to human herpes virus 8 disease_ontology DOID:0111935 immunodeficiency 16 DOID:0111935 A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. url:https://pubmed.ncbi.nlm.nih.gov/20156905/ url:https://pubmed.ncbi.nlm.nih.gov/23897980/ IMD16 A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. GARD:11983 MESH:C585640 MIM:615513 NCI:C187988 ORDO:397596 SNOMEDCT_US_2023_03_01:711480000 UMLS_CUI:C3714976 APDS IMD14 PASLI disease activated PI3K-delta syndrome senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation disease_ontology DOID:0111936 immunodeficiency 14 DOID:0111936 A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. url:https://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome url:https://pubmed.ncbi.nlm.nih.gov/24165795/ APDS IMD14 A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. MIM:615758 NCI:C176808 ORDO:280142 UMLS_CUI:C4014233 IMD22 SCID due to LCK deficiency SCID due to lymphocyte-specific protein tyrosine kinase deficiency severe combined immunodeficiency due to LCK deficiency severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency disease_ontology DOID:0111937 immunodeficiency 22 DOID:0111937 A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. url:https://pubmed.ncbi.nlm.nih.gov/9664084/ IMD22 A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2. MIM:615897 ORDO:420573 UMLS_CUI:C4014617 IMD24 SCID due to CTPS1 deficiency severe combined immunodeficiency due to CTPS1 deficiency disease_ontology DOID:0111938 immunodeficiency 24 DOID:0111938 A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2. url:https://pubmed.ncbi.nlm.nih.gov/24870241/ IMD24 A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3. MIM:616098 UMLS_CUI:C4015195 IMD37 disease_ontology DOID:0111939 immunodeficiency 37 DOID:0111939 A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3. url:https://pubmed.ncbi.nlm.nih.gov/25365219/ IMD37 A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3. MIM:616622 ORDO:477857 IMD42 autosomal recessive MSMD due to complete RORgamma receptor defiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency autosomal recessive primary immunodeficiency due to RORC mutation disease_ontology DOID:0111940 immunodeficiency 42 DOID:0111940 A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3. url:https://pubmed.ncbi.nlm.nih.gov/26160376/ IMD42 A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3. MIM:615707 ORDO:437552 CD16 deficiency IMD20 autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity disease_ontology DOID:0111941 immunodeficiency 20 DOID:0111941 A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3. url:https://pubmed.ncbi.nlm.nih.gov/23006327/ IMD20 A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2. MESH:C565712 MIM:610163 UMLS_CUI:C1857798 IMD25 immunodeficiency due to defect in CD3-zeta disease_ontology DOID:0111942 immunodeficiency 25 DOID:0111942 A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2. url:https://pubmed.ncbi.nlm.nih.gov/16672702/ IMD25 A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2. GARD:387 MESH:C537590 MIM:269840 ORDO:911 UMLS_CUI:C1849236 IMD48 combined immunodeficiency due to ZAP70 deficiency zeta-associated-protein 70 deficiency disease_ontology DOID:0111943 immunodeficiency 48 DOID:0111943 A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2. url:https://pubmed.ncbi.nlm.nih.gov/2511270/ IMD48 A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. MIM:613796 ORDO:391311 IMD31B autosomal recessive STAT1 deficiency autosomal recessive immunodeficiency 31B, mycobacterial and viral infections predisposition to severe viral infection due to STAT1 deficiency susceptibility to viral and mycobacterial infections due to STAT1 deficiency disease_ontology DOID:0111944 immunodeficiency 31B DOID:0111944 A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. url:https://pubmed.ncbi.nlm.nih.gov/12590259/ url:https://pubmed.ncbi.nlm.nih.gov/19084105/ IMD31B A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. MIM:614892 ORDO:319595 IMD31A MSMD due to partial STAT1 deficiency MSMD due to partial signal transducer and activator of transcription 1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency autosomal dominant immunodeficiency 31A, mycobacteriosis disease_ontology DOID:0111945 immunodeficiency 31A DOID:0111945 A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. url:https://pubmed.ncbi.nlm.nih.gov/11452125/ url:https://pubmed.ncbi.nlm.nih.gov/19084105/ IMD31A A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2. MIM:614162 ORDO:391487 CANDF7 IMD31C autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome autosomal dominant chronic mucocutaneous familial candidiasis autosomal dominant immunodeficiency 31C familial candidiasis 7 disease_ontology DOID:0111946 immunodeficiency 31C DOID:0111946 A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2. url:https://pubmed.ncbi.nlm.nih.gov/21714643/ url:https://pubmed.ncbi.nlm.nih.gov/23534974/ url:https://pubmed.ncbi.nlm.nih.gov/23541320/ CANDF7 IMD31C A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. GARD:10934 MESH:D000077428 MIM:614172 NCI:C126349 ORDO:228423 DCML GATA2 deficiency IMD21 MonoMAC combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections dendritic cell, monocyte, B and NK lymphoid deficiency monocyte-B-natural killer-dendritic cell deficiency syndrome monocytopenia and mycobacterial infection syndrome monocytopenia with susceptibility to infections disease_ontology DOID:0111947 immunodeficiency 21 DOID:0111947 A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. url:https://pubmed.ncbi.nlm.nih.gov/21242295/ url:https://pubmed.ncbi.nlm.nih.gov/21670465/ url:https://pubmed.ncbi.nlm.nih.gov/24227816/ DCML IMD21 MonoMAC A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29. MIM:616740 ORDO:476113 SNOMEDCT_US_2023_09_01:1179288008 UMLS_CUI:C5568133 CID due to TFRC deficiency IMD46 TFRC-related combined immunodeficiency combined immunodeficiency due to TFRC deficiency disease_ontology DOID:0111948 immunodeficiency 46 DOID:0111948 A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29. url:https://pubmed.ncbi.nlm.nih.gov/26642240/ IMD46 A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. MIM:616005 NCI:C176703 UMLS_CUI:C4014934 IMD36 activated phosphoinositide 3-kinase delta syndrome 2 immunodeficiency-36 with lymphoproliferation disease_ontology DOID:0111949 immunodeficiency 36 DOID:0111949 A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. url:https://pubmed.ncbi.nlm.nih.gov/39714594/ IMD36 A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3. MIM:614890 ORDO:319558 IL12B deficiency IMD29 MSMD due to complete IL12B deficiency MSMD due to complete interleukin 12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency immunodeficiency 29, mycobacteriosis disease_ontology DOID:0111950 immunodeficiency 29 DOID:0111950 A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3. url:https://pubmed.ncbi.nlm.nih.gov/19084105/ url:https://pubmed.ncbi.nlm.nih.gov/9854038/ IMD29 A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. GARD:12653 MIM:616433 NCI:C176799 ORDO:447737 SNOMEDCT_US_2023_03_01:1197479002 UMLS_CUI:C4225328 DOCK2 deficiency IMD40 disease_ontology DOID:0111951 immunodeficiency 40 DOID:0111951 A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. url:https://pubmed.ncbi.nlm.nih.gov/26083206/ IMD40 A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2. MIM:618108 ORDO:529977 IMD57 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome immunodeficiency 57 with autoinflammation disease_ontology DOID:0111952 immunodeficiency 57 DOID:0111952 A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2. url:https://pubmed.ncbi.nlm.nih.gov/30026316/ IMD57 A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. GARD:4331 MIM:615816 NCI:C126339 ORDO:443811 SNOMEDCT_US_2023_03_01:1187623009 UMLS_CUI:C4014371 CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency disease_ontology DOID:0111953 immunodeficiency 23 DOID:0111953 A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. url:https://pubmed.ncbi.nlm.nih.gov/14981714/ url:https://pubmed.ncbi.nlm.nih.gov/24589341/ IMD23 PGM3-CDG A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15. MIM:618394 UMLS_CUI:C5193072 BACH2-related immunodeficiency and autoimmunity BRIDA IMD60 disease_ontology DOID:0111954 immunodeficiency 60 DOID:0111954 A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15. url:https://pubmed.ncbi.nlm.nih.gov/28530713/ BRIDA IMD60 A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. MESH:C535530 MIM:209950 ORDO:319569 IMD27A autosomal recessive IFNGR1 deficiency autosomal recessive MSMD due to partial IFNgammaR1 deficiency autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency autosomal recessive immunodeficiency 27A, mycobacteriosis autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency disease_ontology DOID:0111955 immunodeficiency 27A DOID:0111955 A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. url:https://pubmed.ncbi.nlm.nih.gov/19084105/ url:https://pubmed.ncbi.nlm.nih.gov/8960473/ url:https://pubmed.ncbi.nlm.nih.gov/8960475/ IMD27A A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. MIM:615978 ORDO:319581 IMD27B autosomal dominant IFNGR1 deficiency autosomal dominant MSMD due to partial IFNgammaR1 deficiency autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency autosomal dominant immunodeficiency 27B, mycobacteriosis autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency disease_ontology DOID:0111956 immunodeficiency 27B DOID:0111956 A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. url:https://pubmed.ncbi.nlm.nih.gov/10192386/ url:https://pubmed.ncbi.nlm.nih.gov/19084105/ IMD27B A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2. MIM:615206 ORDO:357237 UMLS_CUI:C3554686 CARD11 deficiency IMD11A SCID due to CARD11 deficiency severe combined immunodeficiency due to CARD11 deficiency disease_ontology DOID:0111957 immunodeficiency 11A DOID:0111957 A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2. url:https://pubmed.ncbi.nlm.nih.gov/23374270/ url:https://pubmed.ncbi.nlm.nih.gov/23561803/ IMD11A A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2. MIM:617638 NCI:C176630 UMLS_CUI:C4539957 IMD11B atopic dermatitis, elevated IgE, and eosinophilia immunodeficiency 11B with atopic dermatitis disease_ontology DOID:0111958 immunodeficiency 11B DOID:0111958 A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2. url:https://pubmed.ncbi.nlm.nih.gov/28628108/ IMD11B A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21. MIM:615592 UMLS_CUI:C4747743 IMD15B disease_ontology DOID:0111959 immunodeficiency 15B DOID:0111959 A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21. url:https://pubmed.ncbi.nlm.nih.gov/24369075/ IMD15B A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21. MIM:618204 UMLS_CUI:C4748694 IMD15A disease_ontology DOID:0111960 immunodeficiency 15A DOID:0111960 A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21. url:https://pubmed.ncbi.nlm.nih.gov/30337470/ IMD15A A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21. MIM:615966 NCI:C176795 ORDO:317425 UMLS_CUI:C4014833 IMD26 SCID due to DNA-PKcs deficiency immunodeficiency 26, with or without neurologic abnormalities severe combined immunodeficiency due to DNA-PKcs deficiency disease_ontology DOID:0111961 immunodeficiency 26 DOID:0111961 A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21. url:https://pubmed.ncbi.nlm.nih.gov/19075392/ url:https://pubmed.ncbi.nlm.nih.gov/23722905/ IMD26 A primary immunodeficiency disease that involves multiple components of the immune system. NCI:C27871 disease_ontology DOID:0111962 combined immunodeficiency DOID:0111962 A primary immunodeficiency disease that involves multiple components of the immune system. url:https://pubmed.ncbi.nlm.nih.gov/32048120/ A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells. disease_ontology DOID:0111963 dendritic cell deficiency DOID:0111963 A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells. url:https://www.ncbi.nlm.nih.gov/books/NBK27092/ A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells. disease_ontology DOID:0111964 B cell and dendritic cell deficiency DOID:0111964 A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells. url:https://www.ncbi.nlm.nih.gov/books/NBK27092/ A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells. disease_ontology DOID:0111965 T cell, B cell, and NK cell deficiency DOID:0111965 A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells. url:https://www.ncbi.nlm.nih.gov/books/NBK27092/ A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells. disease_ontology DOID:0111966 monocyte, dendritic cell, and NK cell deficiency DOID:0111966 A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells. url:https://www.ncbi.nlm.nih.gov/books/NBK27092/ A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21. MESH:C566492 MIM:609981 NCI:C123729 ORDO:75391 UMLS_CUI:C1864947 IMD54 NKCD familial isolated natural killer cell deficiency primary immunodeficiency due to MCM4 deficiency primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency disease_ontology DOID:0111967 immunodeficiency 54 DOID:0111967 A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21. url:https://pubmed.ncbi.nlm.nih.gov/16532402/ url:https://pubmed.ncbi.nlm.nih.gov/22354167/ IMD54 NKCD A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1. MESH:C565232 MIM:606367 ORDO:169100 CD25 deficiency IL2RA deficiency IMD41 immunodeficiency 41 with lymphoproliferation and autoimmunity immunodeficiency due to CD25 deficiency interleukin-2 receptor alpha chain deficiency disease_ontology DOID:0111968 immunodeficiency 41 DOID:0111968 A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1. url:https://pubmed.ncbi.nlm.nih.gov/23416241/ url:https://pubmed.ncbi.nlm.nih.gov/9096364/ IMD41 A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the IRF7 gene on chromosome 11p15.5. MIM:616345 IMD39 disease_ontology DOID:0111969 immunodeficiency 39 DOID:0111969 A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the IRF7 gene on chromosome 11p15.5. url:https://pubmed.ncbi.nlm.nih.gov/25814066/ IMD39 A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4. MESH:C557827 MIM:612783 ORDO:317430 UMLS_CUI:C2748557 CID due to STIM1 deficiency IMD10 STIM1 deficiency combined immunodeficiency due to STIM1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 2 disease_ontology DOID:0111970 immunodeficiency 10 DOID:0111970 A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4. url:https://pubmed.ncbi.nlm.nih.gov/26560041/ IMD10 A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3. MIM:615615 CD3-epsilon deficiency IMD18 disease_ontology DOID:0111971 immunodeficiency 18 DOID:0111971 A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3. url:https://pubmed.ncbi.nlm.nih.gov/15546002/ url:https://pubmed.ncbi.nlm.nih.gov/8490660/ IMD18 A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3. MIM:615617 UMLS_CUI:C3810147 CD3-delta deficiency IMD19 SCID T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive disease_ontology DOID:0111972 immunodeficiency 19 DOID:0111972 A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3. url:https://pubmed.ncbi.nlm.nih.gov/14602880/ url:https://pubmed.ncbi.nlm.nih.gov/21883749/ IMD19 A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clinical severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. MIM:615607 UMLS_CUI:C3810107 CD3-gamma deficiency IMD17 SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive immunodeficiency 17, CD3 gamma deficient disease_ontology DOID:0111973 immunodeficiency 17 DOID:0111973 A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clinical severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. url:https://pubmed.ncbi.nlm.nih.gov/1635567/ url:https://pubmed.ncbi.nlm.nih.gov/17277165/ url:https://pubmed.ncbi.nlm.nih.gov/8325321/ IMD17 A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3. MESH:C565535 MIM:233600 UMLS_CUI:C1856263 IMD59 granulocytopenia with immunoglobin abnormality immunodeficiency 59 and hypoglycemia disease_ontology DOID:0111974 immunodeficiency 59 DOID:0111974 A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3. url:https://pubmed.ncbi.nlm.nih.gov/27913302/ IMD59 A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3. MIM:616636 IMD44 disease_ontology DOID:0111975 immunodeficiency 44 DOID:0111975 A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3. url:https://pubmed.ncbi.nlm.nih.gov/23391734/ url:https://pubmed.ncbi.nlm.nih.gov/26122121/ IMD44 A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31. MESH:C557826 MIM:612782 ORDO:317428 UMLS_CUI:C2748568 CID due to ORAI1 deficiency IMD9 combined immunodeficiency due to ORAI1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 1 disease_ontology DOID:0111976 immunodeficiency 9 DOID:0111976 A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31. url:https://pubmed.ncbi.nlm.nih.gov/16582901/ url:https://pubmed.ncbi.nlm.nih.gov/20004786/ IMD9 A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2. MIM:615387 ORDO:397959 UMLS_CUI:C3809332 IMD7 TCR-alpha-beta-positive T-cell deficiency immunodeficiency 7, TCR-alpha/beta deficient disease_ontology DOID:0111977 immunodeficiency 7 DOID:0111977 A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2. url:https://pubmed.ncbi.nlm.nih.gov/21206088/ IMD7 A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12. MIM:618648 IMD65 immunodeficiency 65, susceptibility to viral infections disease_ontology DOID:0111978 immunodeficiency 65 DOID:0111978 A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12. url:https://pubmed.ncbi.nlm.nih.gov/30143481/ url:https://pubmed.ncbi.nlm.nih.gov/30826365/ IMD65 A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2. MIM:617237 UMLS_CUI:C4310656 IMD49 SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities disease_ontology DOID:0111979 immunodeficiency 49 DOID:0111979 A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2. url:https://pubmed.ncbi.nlm.nih.gov/27959755/ url:https://pubmed.ncbi.nlm.nih.gov/29985992/ IMD49 A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14. MIM:618534 IMD64 disease_ontology DOID:0111980 immunodeficiency 64 DOID:0111980 A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14. url:https://pubmed.ncbi.nlm.nih.gov/27776107/ url:https://pubmed.ncbi.nlm.nih.gov/29155103/ url:https://pubmed.ncbi.nlm.nih.gov/29282224/ IMD64 A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1. MESH:C565476 MIM:241600 B2M deficiency IMD43 beta-2-microglobulin deficiency hypercatabolic hypoproteinemia disease_ontology DOID:0111981 immunodeficiency 43 DOID:0111981 A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1. url:https://pubmed.ncbi.nlm.nih.gov/16549777/ url:https://pubmed.ncbi.nlm.nih.gov/25702838/ IMD43 A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1. MIM:615207 ORDO:357329 UMLS_CUI:C3554687 IL21R immunodeficiency IMD56 combined immunodeficiency due to IL21R deficiency disease_ontology DOID:0111982 immunodeficiency 56 DOID:0111982 A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1. url:https://pubmed.ncbi.nlm.nih.gov/23440042/ IMD56 A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2. MIM:617514 ORDO:504523 SNOMEDCT_US_2023_03_01:1179284005 UMLS_CUI:C4479588 IMD52 severe combined immunodeficiency due to LAT deficiency disease_ontology DOID:0111983 immunodeficiency 52 DOID:0111983 A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2. url:https://pubmed.ncbi.nlm.nih.gov/27242165/ url:https://pubmed.ncbi.nlm.nih.gov/27522155/ IMD52 A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1. MIM:618131 ORDO:542301 UMLS_CUI:C4748304 IMD58 severe combined immunodeficiency due to CARMIL2 deficiency disease_ontology DOID:0111984 immunodeficiency 58 DOID:0111984 A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1. url:https://pubmed.ncbi.nlm.nih.gov/27647349/ url:https://pubmed.ncbi.nlm.nih.gov/29479355/ IMD58 A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1. MIM:226990 UMLS_CUI:C4016741 IMD32B autosomal recessive IRF8 deficiency immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive disease_ontology DOID:0111985 immunodeficiency 32B DOID:0111985 A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1. url:https://pubmed.ncbi.nlm.nih.gov/27893462/ url:https://pubmed.ncbi.nlm.nih.gov/6279813/ IMD32B A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1. MIM:614893 ORDO:319600 UMLS_CUI:C3808589 IMD32A MSMD due to partial IRF8 deficiency MSMD due to partial interferon regulatory factor 8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency immunodeficiency 32A, mycobacteriosis, autosomal dominant disease_ontology DOID:0111986 immunodeficiency 32A DOID:0111986 A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1. url:https://pubmed.ncbi.nlm.nih.gov/21524210/ IMD32A A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2. GARD:12375 MIM:615518 ORDO:228000 UMLS_CUI:C3809768 ICL IMD13 idiopathic CD4 lymphopenia disease_ontology DOID:0111987 immunodeficiency 13 DOID:0111987 A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2. url:https://pubmed.ncbi.nlm.nih.gov/22184408/ ICL IMD13 A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32. MIM:615468 ORDO:397964 IMD12 combined immunodeficiency due to MALT1 deficiency disease_ontology DOID:0111988 immunodeficiency 12 DOID:0111988 A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32. url:https://pubmed.ncbi.nlm.nih.gov/23727036/ url:https://pubmed.ncbi.nlm.nih.gov/24332264/ IMD12 A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2. MESH:C566928 MIM:611521 ORDO:331226 IMD35 TYK2 deficiency autosomal recessiv HIES with atypical mycobacteriosis autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis susceptibility to infection due to TYK2 deficiency tyrosine kinase 2 deficiency disease_ontology DOID:0111989 immunodeficiency 35 DOID:0111989 A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2. url:https://pubmed.ncbi.nlm.nih.gov/26304966/ IMD35 A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11. MIM:614891 NCI:C176800 ORDO:319552 UMLS_CUI:C4013949 IMD30 MSMD due to complete IL12RB1 deficiency MSMD due to complete interleukin 12 receptor beta 1 deficiency Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency disease_ontology DOID:0111990 immunodeficiency 30 DOID:0111990 A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11. url:https://pubmed.ncbi.nlm.nih.gov/19084105/ url:https://pubmed.ncbi.nlm.nih.gov/9603732/ url:https://pubmed.ncbi.nlm.nih.gov/9603733/ IMD30 A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2. MIM:618459 UMLS_CUI:C5193109 IMD62 disease_ontology DOID:0111991 immunodeficiency 62 DOID:0111991 A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2. url:https://pubmed.ncbi.nlm.nih.gov/30521495/ IMD62 A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32. MIM:617585 UMLS_CUI:C4539811 IMD53 disease_ontology DOID:0111992 immunodeficiency 53 DOID:0111992 A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32. url:https://pubmed.ncbi.nlm.nih.gov/26385063/ IMD53 A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21. MIM:617827 ORDO:505227 IMD55 combined immunodeficiency due to GINS1 deficiency disease_ontology DOID:0111993 immunodeficiency 55 DOID:0111993 A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21. url:https://pubmed.ncbi.nlm.nih.gov/28414293/ IMD55 A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11. MIM:616669 IMD45 disease_ontology DOID:0111994 immunodeficiency 45 DOID:0111994 A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11. url:https://pubmed.ncbi.nlm.nih.gov/26424569/ IMD45 A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11. MIM:614889 ORDO:319547 IFNGR2 deficiency IMD28 MSMD due to complete IFNgammaR2 deficiency MSMD due to complete interferon gamma receptor 2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency immunodeficiency 28, mycobacteriosis disease_ontology DOID:0111995 immunodeficiency 28 DOID:0111995 A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11. url:https://pubmed.ncbi.nlm.nih.gov/11335769/ url:https://pubmed.ncbi.nlm.nih.gov/19084105/ IMD28 A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1. MIM:613953 CANDF5 IMD51 familial candidiasis 5 disease_ontology DOID:0111996 immunodeficiency 51 DOID:0111996 A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1. url:https://pubmed.ncbi.nlm.nih.gov/27930337/ CANDF5 IMD51 A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3. MIM:618495 UMLS_CUI:C5193126 IL2RB deficiency IMD63 immunodeficiency 63 with lymphoproliferation and autoimmunity disease_ontology DOID:0111997 immunodeficiency 63 DOID:0111997 A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3. url:https://pubmed.ncbi.nlm.nih.gov/31040184/ url:https://pubmed.ncbi.nlm.nih.gov/31040185/ IMD63 A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2. MIM:618847 IMD66 disease_ontology DOID:0111998 immunodeficiency 66 DOID:0111998 A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2. url:https://pubmed.ncbi.nlm.nih.gov/26224645/ IMD66 A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12. MESH:C538057 MIM:300310 UMLS_CUI:C1845903 IMD61 disease_ontology DOID:0111999 immunodeficiency 61 DOID:0111999 A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12. url:https://pubmed.ncbi.nlm.nih.gov/29636373/ IMD61 A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4. MESH:C567068 MIM:300645 UMLS_CUI:C1970859 AMCBX2 IMD34 X-linked MSMD due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency familial atypical mycobacteriosis X-linked 2 immunodeficiency 34, mycobacteriosis, X-linked disease_ontology DOID:0112000 immunodeficiency 34 DOID:0112000 A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4. url:https://pubmed.ncbi.nlm.nih.gov/17293536/ url:https://pubmed.ncbi.nlm.nih.gov/21278736/ AMCBX2 IMD34 A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12. MIM:300988 ORDO:504530 CID due to Moesin deficiency IMD50 MSN-related combined immunodeficiency X-linked Moesin-associated immunodeficiency combined immunodeficiency due to Moesin deficiency immunodeficiency 50 X linked recessive disease_ontology DOID:0112001 immunodeficiency 50 DOID:0112001 A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12. url:https://pubmed.ncbi.nlm.nih.gov/27405666/ IMD50 A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28. MIM:300972 UMLS_CUI:C4310819 CDG IIs CDG2S CDGIIs IMD47 congenital disorder of glycosylation type IIs immunodeficiency and hepatopathy with or without neurologic features disease_ontology DOID:0112002 immunodeficiency 47 DOID:0112002 A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28. url:https://pubmed.ncbi.nlm.nih.gov/27231034/ CDG IIs CDG2S CDGIIs IMD47 A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28. MIM:300636 IMD33 X-linked MSMD due to IKBKG deficiency X-linked MSMD due to NEMO deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency disease_ontology DOID:0112003 immunodeficiency 33 DOID:0112003 A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28. url:https://pubmed.ncbi.nlm.nih.gov/15356572/ url:https://pubmed.ncbi.nlm.nih.gov/31965418/ IMD33 A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1. MIM:617718 IMD71 PLTEID immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia platelet abnormalities with eosinophilia and immune-mediated inflammatory disease disease_ontology DOID:0112004 immunodeficiency 71 DOID:0112004 A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1. url:https://pubmed.ncbi.nlm.nih.gov/30254128/ IMD71 PLTEID A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3. MIM:618969 IMD70 disease_ontology DOID:0112005 immunodeficiency 70 DOID:0112005 A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3. url:https://pubmed.ncbi.nlm.nih.gov/32499645/ IMD70 A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15. MIM:618963 IMD69 disease_ontology DOID:0112006 immunodeficiency 69 DOID:0112006 A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15. url:https://pubmed.ncbi.nlm.nih.gov/32163377/ IMD69 A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in the GPR101 gene on chromosome Xq26.3. MIM:300943 GH-secreting pituitary adenoma 2 PITA2 X-linked acromegaly acromegaly due to pituitary adenoma 2 disease_ontology DOID:0112007 growth hormone secreting pituitary adenoma 2 DOID:0112007 A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in the GPR101 gene on chromosome Xq26.3. url:https://pubmed.ncbi.nlm.nih.gov/25470569/ url:https://pubmed.ncbi.nlm.nih.gov/25806920/ PITA2 A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1. MIM:617540 PITA5 pituitary adenoma 5, multiple types disease_ontology DOID:0112008 pituitary adenoma 5 DOID:0112008 A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1. url:https://pubmed.ncbi.nlm.nih.gov/28413019/ PITA5 A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2. MIM:102200 PITA1 pituitary adenoma 1, multiple types disease_ontology DOID:0112009 pituitary adenoma 1 DOID:0112009 A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2. url:https://pubmed.ncbi.nlm.nih.gov/16728643/ url:https://pubmed.ncbi.nlm.nih.gov/17360484/ PITA1 A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. MIM:617686 PITA3 pituitary adenoma 3, multiple types disease_ontology DOID:0112010 pituitary adenoma 3 DOID:0112010 A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. url:https://pubmed.ncbi.nlm.nih.gov/28766057/ url:https://pubmed.ncbi.nlm.nih.gov/9589663/ PITA3 A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions. GARD:4075 MEDDRA:10068842 ORDO:659 OLMS Olmsted syndrome mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques palmoplantar and periorificial keratoderma disease_ontology DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques DOID:0112011 A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions. url:https://pubmed.ncbi.nlm.nih.gov/16227106/ url:https://pubmed.ncbi.nlm.nih.gov/17367233/ url:https://pubmed.ncbi.nlm.nih.gov/22405088/ OLMS A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. MIM:300918 OLMSX X-linked Olmsted syndrome disease_ontology DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques DOID:0112012 A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. url:https://pubmed.ncbi.nlm.nih.gov/17367233/ url:https://pubmed.ncbi.nlm.nih.gov/24313295/ OLMSX A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. MIM:614594 OLMS1 Olmsted syndrome 1 autosomal dominant Olmsted syndrome disease_ontology DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques DOID:0112013 A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. url:https://pubmed.ncbi.nlm.nih.gov/22405088/ url:https://pubmed.ncbi.nlm.nih.gov/24452206/ OLMS1 A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12. MIM:618719 MGBL disease_ontology DOID:0112014 congenital megabladder DOID:0112014 A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12. url:https://pubmed.ncbi.nlm.nih.gov/31513549/ MGBL A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2. MIM:618982 immunodeficiency 72 with autoinflammation disease_ontology DOID:0112015 immunodeficiency 72 DOID:0112015 A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2. url:https://pubmed.ncbi.nlm.nih.gov/32647003/ A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3. MIM:300428 MRX2 X-linked mental retardation 2 disease_ontology DOID:0112016 non-syndromic X-linked intellectual disability 2 DOID:0112016 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3. url:https://pubmed.ncbi.nlm.nih.gov/2602357/ url:https://pubmed.ncbi.nlm.nih.gov/6839531/ MRX2 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2. MIM:300355 MRX73 X-linked mental retardation 73 disease_ontology DOID:0112017 non-syndromic X-linked intellectual disability 73 DOID:0112017 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2. url:https://pubmed.ncbi.nlm.nih.gov/11477616/ MRX73 A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2. MIM:300983 MRX104 X-linked mental retardation 104 disease_ontology DOID:0112018 non-syndromic X-linked intellectual disability 104 DOID:0112018 A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2. url:https://pubmed.ncbi.nlm.nih.gov/25644381/ MRX104 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12. MIM:300844 MRX19 X-linked mental retardation 19 disease_ontology DOID:0112019 non-syndromic X-linked intellectual disability 19 DOID:0112019 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12. url:https://pubmed.ncbi.nlm.nih.gov/17100996/ MRX19 A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11. MIM:300982 MRX103 X-linked mental retardation 103 disease_ontology DOID:0112020 non-syndromic X-linked intellectual disability 103 DOID:0112020 A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11. url:https://pubmed.ncbi.nlm.nih.gov/24817631/ url:https://pubmed.ncbi.nlm.nih.gov/25644381/ MRX103 A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3. GARD:5614 MIM:300419 ARX-related intellectual disability MRXARX X-linked mental retardation 29 X-linked mental retardation 29 and others X-linked mental retardation 32 X-linked mental retardation 33 X-linked mental retardation 38 X-linked mental retardation 43 X-linked mental retardation 52 X-linked mental retardation 54 X-linked mental retardation 76 X-linked mental retardation 87 X-linked mental retardation with or without seizures ARX-related disease_ontology DOID:0112021 non-syndromic X-linked intellectual disability ARX-related DOID:0112021 A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3. url:https://pubmed.ncbi.nlm.nih.gov/10398246/ url:https://pubmed.ncbi.nlm.nih.gov/17480217/ MRXARX A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2. MIM:300143 MRX21 MRX34 X-linked mental retardation 21 X-linked mental retardation 21/34 X-linked mental retardation 34 disease_ontology DOID:0112022 non-syndromic X-linked intellectual disability 21 DOID:0112022 A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2. url:https://pubmed.ncbi.nlm.nih.gov/18801879/ MRX21 MRX34 A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21. MIM:300047 MRX20 X-linked mental retardation 20 disease_ontology DOID:0112023 non-syndromic X-linked intellectual disability 20 DOID:0112023 A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21. url:https://pubmed.ncbi.nlm.nih.gov/7573127/ MRX20 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4. MIM:300210 MRX58 X-linked mental retardation 58 disease_ontology DOID:0112024 non-syndromic X-linked intellectual disability 58 DOID:0112024 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4. url:https://pubmed.ncbi.nlm.nih.gov/10449641/ url:https://pubmed.ncbi.nlm.nih.gov/12070254/ MRX58 A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. GARD:13638 MIM:300968 MRXS99F X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability female-restricted syndromic X-linked mental retardation 99 disease_ontology DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 DOID:0112025 A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. url:https://pubmed.ncbi.nlm.nih.gov/26833328/ MRXS99F A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4. MIM:300919 MRX99 X-linked mental retardation 99 disease_ontology DOID:0112026 non-syndromic X-linked intellectual disability 99 DOID:0112026 A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4. url:https://pubmed.ncbi.nlm.nih.gov/24607389/ MRX99 A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3. GARD:8557 MIM:300062 MRX14 X-linked mental retardation 14 disease_ontology DOID:0112027 non-syndromic X-linked intellectual disability 14 DOID:0112027 A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3. url:https://pubmed.ncbi.nlm.nih.gov/8026106/ MRX14 A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. MIM:300498 MRX45 X-linked mental retardation 45 disease_ontology DOID:0112028 non-syndromic X-linked intellectual disability 45 DOID:0112028 A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. url:https://pubmed.ncbi.nlm.nih.gov/10398246/ MRX45 A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. MIM:300115 MRX50 X-linked intellectual developmental disorder 50 X-linked mental retardation 50 XLID50 disease_ontology DOID:0112029 non-syndromic X-linked intellectual disability 50 DOID:0112029 A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. url:https://pubmed.ncbi.nlm.nih.gov/9415477/ MRX50 XLID50 A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3. MIM:300505 MRX84 X-linked mental retardation 84 disease_ontology DOID:0112030 non-syndromic X-linked intellectual disability 84 DOID:0112030 A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3. url:https://pubmed.ncbi.nlm.nih.gov/15326629/ MRX84 A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3. MIM:300848 MRX89 X-linked mental retardation 89 disease_ontology DOID:0112031 non-syndromic X-linked intellectual disability 89 DOID:0112031 A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3. url:https://pubmed.ncbi.nlm.nih.gov/14628291/ url:https://pubmed.ncbi.nlm.nih.gov/23871722/ MRX89 A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3. MIM:300851 MRX92 X-linked mental retardation 92 disease_ontology DOID:0112032 non-syndromic X-linked intellectual disability 92 DOID:0112032 A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3. url:https://pubmed.ncbi.nlm.nih.gov/16385466/ url:https://pubmed.ncbi.nlm.nih.gov/23871722/ MRX92 A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12. MIM:300433 MRX81 X-linked mental retardation 81 disease_ontology DOID:0112033 non-syndromic X-linked intellectual disability 81 DOID:0112033 A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12. url:https://pubmed.ncbi.nlm.nih.gov/12673650/ MRX81 A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23. MIM:309549 MRX44 MRX9 X-linked mental retardation 44 X-linked mental retardation 9 disease_ontology DOID:0112034 non-syndromic X-linked intellectual disability 9 DOID:0112034 A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23. url:https://pubmed.ncbi.nlm.nih.gov/10398246/ url:https://pubmed.ncbi.nlm.nih.gov/15162322/ MRX44 MRX9 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23. MIM:300802 MRX96 X-linked mental retardation 96 disease_ontology DOID:0112035 non-syndromic X-linked intellectual disability 96 DOID:0112035 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23. url:https://pubmed.ncbi.nlm.nih.gov/19377476/ MRX96 A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23. MIM:300984 MRX105 X-linked mental retardation 105 disease_ontology DOID:0112036 non-syndromic X-linked intellectual disability 105 DOID:0112036 A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23. url:https://pubmed.ncbi.nlm.nih.gov/25644381/ MRX105 A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes. MIM:300705 MRX17 MRX31 X-linked mental retardation 17 X-linked mental retardation 31 Xp11.22 microduplication syndrome disease_ontology DOID:0112037 chromosome Xp11.22 duplication syndrome DOID:0112037 A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes. url:https://pubmed.ncbi.nlm.nih.gov/22840365/ url:https://pubmed.ncbi.nlm.nih.gov/7943039/ MRX17 MRX31 A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22. GARD:13221 MIM:309530 MRX1 MRX18 MRX78 X-linked mental retardation 1 X-linked mental retardation 1/78 X-linked mental retardation 18 X-linked mental retardation 78 disease_ontology DOID:0112038 non-syndromic X-linked intellectual disability 1 DOID:0112038 A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22. url:https://pubmed.ncbi.nlm.nih.gov/20473311/ url:https://pubmed.ncbi.nlm.nih.gov/3177466/ MRX1 MRX18 MRX78 A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3. MIM:300454 MRX77 X-linked mental retardation 77 disease_ontology DOID:0112039 non-syndromic X-linked intellectual disability 77 DOID:0112039 A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3. url:https://pubmed.ncbi.nlm.nih.gov/12949971/ MRX77 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1. MIM:300923 MRX100 X-linked mental retardation 100 disease_ontology DOID:0112040 non-syndromic X-linked intellectual disability 100 DOID:0112040 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1. url:https://pubmed.ncbi.nlm.nih.gov/24812067/ MRX100 A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the DLG3 gene on chromosome Xq13.1. MIM:300850 MRX90 X-linked mental retardation 90 disease_ontology DOID:0112041 non-syndromic X-linked intellectual disability 90 DOID:0112041 A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the DLG3 gene on chromosome Xq13.1. url:https://pubmed.ncbi.nlm.nih.gov/15185169/ MRX90 A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2. MIM:300978 MRX61 TOKAS X-linked mental retardation 61 intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia disease_ontology DOID:0112042 Tonne-Kalscheuer syndrome DOID:0112042 A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2. url:https://pubmed.ncbi.nlm.nih.gov/25735484/ url:https://pubmed.ncbi.nlm.nih.gov/29728705/ MRX61 TOKAS A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3. MIM:300577 MRX91 X-linked mental retardation 91 disease_ontology DOID:0112043 non-syndromic X-linked intellectual disability 91 DOID:0112043 A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3. url:https://pubmed.ncbi.nlm.nih.gov/15915161/ MRX91 A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3. MIM:300912 MRX98 X-linked mental retardation 98 disease_ontology DOID:0112044 non-syndromic X-linked intellectual disability 98 DOID:0112044 A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3. url:https://pubmed.ncbi.nlm.nih.gov/23615299/ url:https://pubmed.ncbi.nlm.nih.gov/27358180/ MRX98 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1. MIM:300659 MRX93 X-linked mental retardation 93 X-linked mental retardation with macrocephaly disease_ontology DOID:0112045 non-syndromic X-linked intellectual disability 93 DOID:0112045 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1. url:https://pubmed.ncbi.nlm.nih.gov/17668385/ MRX93 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the ZNF711 gene on chromosome Xq21.1. MIM:300803 MRX65 MRX97 MRXZ X-linked mental retardation 65 X-linked mental retardation 97 disease_ontology DOID:0112046 non-syndromic X-linked intellectual disability 97 DOID:0112046 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the ZNF711 gene on chromosome Xq21.1. url:https://pubmed.ncbi.nlm.nih.gov/10398247/ url:https://pubmed.ncbi.nlm.nih.gov/27993705/ MRX65 MRX97 MRXZ A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26. MIM:300324 MRX53 X-linked mental retardation 53 disease_ontology DOID:0112047 non-syndromic X-linked intellectual disability 53 DOID:0112047 A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26. url:https://pubmed.ncbi.nlm.nih.gov/11337751/ MRX53 A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the MID2 gene on chromosome Xq22.3. MIM:300928 MRX101 X-linked mental retardation 101 disease_ontology DOID:0112048 non-syndromic X-linked intellectual disability 101 DOID:0112048 A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the MID2 gene on chromosome Xq22.3. url:https://pubmed.ncbi.nlm.nih.gov/24115387/ MRX101 A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24. MIM:300046 MRX23 X-linked mental retardation 23 disease_ontology DOID:0112049 non-syndromic X-linked intellectual disability 23 DOID:0112049 A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24. url:https://pubmed.ncbi.nlm.nih.gov/6711606/ url:https://pubmed.ncbi.nlm.nih.gov/8852668/ MRX23 A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23. GARD:5613 MIM:300387 ACSL4-related intellectual disability MRX63 MRX68 X-linked mental retardation 63 X-linked mental retardation 68 disease_ontology DOID:0112050 non-syndromic X-linked intellectual disability 63 DOID:0112050 A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23. url:https://pubmed.ncbi.nlm.nih.gov/10854107/ url:https://pubmed.ncbi.nlm.nih.gov/11889465/ MRX63 MRX68 A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. MIM:300558 MRX30 MRX47 X-linked mental retardation 30 X-linked mental retardation 30/47 X-linked mental retardation 47 disease_ontology DOID:0112051 non-syndromic X-linked intellectual disability 30 DOID:0112051 A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. url:https://pubmed.ncbi.nlm.nih.gov/10946356/ url:https://pubmed.ncbi.nlm.nih.gov/9332663/ url:https://pubmed.ncbi.nlm.nih.gov/9731525/ MRX30 MRX47 A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25. MIM:300518 MRX82 X-linked mental retardation 82 disease_ontology DOID:0112052 non-syndromic X-linked intellectual disability 82 DOID:0112052 A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25. url:https://pubmed.ncbi.nlm.nih.gov/15526294/ MRX82 A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24. MIM:300852 MRX88 X-linked mental retardation 88 disease_ontology DOID:0112053 non-syndromic X-linked intellectual disability 88 DOID:0112053 A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24. url:https://pubmed.ncbi.nlm.nih.gov/12089445/ url:https://pubmed.ncbi.nlm.nih.gov/23871722/ MRX88 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24. MIM:301013 MRX107 X-linked mental retardation 107 disease_ontology DOID:0112054 non-syndromic X-linked intellectual disability 107 DOID:0112054 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24. url:https://pubmed.ncbi.nlm.nih.gov/29374277/ MRX107 A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26. MIM:300436 MRX46 X-linked mental retardation 46 disease_ontology DOID:0112055 non-syndromic X-linked intellectual disability 46 DOID:0112055 A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26. url:https://pubmed.ncbi.nlm.nih.gov/9783701/ MRX46 A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25. MIM:300957 ORDO:457240 MRX12 MRX35 X-linked mental retardation 12 X-linked mental retardation 35 disease_ontology DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome DOID:0112056 A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25. url:https://pubmed.ncbi.nlm.nih.gov/26166480/ MRX12 MRX35 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26. MIM:300372 MRX42 X-linked mental retardation 42 disease_ontology DOID:0112057 non-syndromic X-linked intellectual disability 42 DOID:0112057 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26. url:https://pubmed.ncbi.nlm.nih.gov/11807862/ MRX42 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28. MIM:300849 MRX41 MRX48 X-linked mental retardation 41 X-linked mental retardation 48 disease_ontology DOID:0112058 non-syndromic X-linked intellectual disability 41 DOID:0112058 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28. url:https://pubmed.ncbi.nlm.nih.gov/8826463/ url:https://pubmed.ncbi.nlm.nih.gov/9106537/ url:https://pubmed.ncbi.nlm.nih.gov/9620768/ MRX41 MRX48 A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28. MIM:300271 MRX72 X-linked mental retardation 72 disease_ontology DOID:0112059 non-syndromic X-linked intellectual disability 72 DOID:0112059 A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28. url:https://pubmed.ncbi.nlm.nih.gov/11050621/ url:https://pubmed.ncbi.nlm.nih.gov/20159109/ MRX72 A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2. MIM:300114 MRX15 MRX49 MRXSRC X-linked mental retardation 15 X-linked mental retardation 49 disease_ontology DOID:0112060 Raynaud-Claes syndrome DOID:0112060 A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2. url:https://pubmed.ncbi.nlm.nih.gov/23647072/ url:https://pubmed.ncbi.nlm.nih.gov/27550844/ url:https://pubmed.ncbi.nlm.nih.gov/8826458/ url:https://pubmed.ncbi.nlm.nih.gov/9415477/ MRX15 MRX49 MRXSRC A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1. MIM:618986 IMD73B disease_ontology DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia DOID:0112061 A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1. url:https://pubmed.ncbi.nlm.nih.gov/30723080/ url:https://pubmed.ncbi.nlm.nih.gov/32542921/ IMD73B A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12. MIM:618987 IMD73C disease_ontology DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia DOID:0112062 A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12. url:https://pubmed.ncbi.nlm.nih.gov/25512081/ IMD73C A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2. MIM:301051 IMD74 TLR7 deficiency X-linked immunodeficiency 74,COVID-19-related respiratory insufficiency due to SARS-CoV-2 viral infection disease_ontology DOID:0112063 X-Linked immunodeficiency 74 DOID:0112063 A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2. url:https://pubmed.ncbi.nlm.nih.gov/32706371/ IMD74 A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1. MESH:C564275 MIM:608203 ORDO:183707 SNOMEDCT_US_2023_03_01:723443003 UMLS_CUI:C1842398 IMD73A neutrophil immunodeficiency syndrome disease_ontology DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis DOID:0112064 A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1. url:https://pubmed.ncbi.nlm.nih.gov/21167572/ url:https://pubmed.ncbi.nlm.nih.gov/32542921/ IMD73A A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome. MIM:PS252010 MC1DN disease_ontology DOID:0112065 nuclear type mitochondrial complex I deficiency DOID:0112065 A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome. url:https://pubmed.ncbi.nlm.nih.gov/22644603/ url:https://pubmed.ncbi.nlm.nih.gov/22972949/ MC1DN A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23. MIM:618228 MC1DN6 disease_ontology DOID:0112066 nuclear type mitochondrial complex I deficiency 6 DOID:0112066 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23. url:https://pubmed.ncbi.nlm.nih.gov/11220739/ MC1DN6 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1. MIM:618246 MC1DN25 disease_ontology DOID:0112067 nuclear type mitochondrial complex I deficiency 25 DOID:0112067 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1. url:https://pubmed.ncbi.nlm.nih.gov/22277967/ MC1DN25 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3. MIM:618226 MC1DN5 disease_ontology DOID:0112068 nuclear type mitochondrial complex I deficiency 5 DOID:0112068 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3. url:https://pubmed.ncbi.nlm.nih.gov/11349233/ MC1DN5 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3. MIM:618243 MC1DN22 disease_ontology DOID:0112069 nuclear type mitochondrial complex I deficiency 22 DOID:0112069 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3. url:https://pubmed.ncbi.nlm.nih.gov/21150889/ MC1DN22 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31. MIM:618240 MC1DN18 disease_ontology DOID:0112070 nuclear type mitochondrial complex I deficiency 18 DOID:0112070 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31. url:https://pubmed.ncbi.nlm.nih.gov/19463981/ MC1DN18 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33. MIM:618251 MC1DN31 disease_ontology DOID:0112071 nuclear type mitochondrial complex I deficiency 31 DOID:0112071 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33. url:https://pubmed.ncbi.nlm.nih.gov/28604674/ MC1DN31 A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3. MESH:C567006 MIM:611126 ORDO:99901 SNOMEDCT_US_2023_03_01:725046003 UMLS_CUI:C1970173 ACAD9 deficiency Acyl-CoA dehydrogenase 9 deficiency MC1DN20 mitochondrial complex 1 deficiency due to ACAD9 deficiency disease_ontology DOID:0112072 nuclear type mitochondrial complex I deficiency 20 DOID:0112072 A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3. url:https://ghr.nlm.nih.gov/condition/acad9-deficiency url:https://pubmed.ncbi.nlm.nih.gov/17564966/ url:https://pubmed.ncbi.nlm.nih.gov/21057504/ MC1DN20 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33. MIM:618232 MC1DN9 disease_ontology DOID:0112073 nuclear type mitochondrial complex I deficiency 9 DOID:0112073 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33. url:https://pubmed.ncbi.nlm.nih.gov/15372108/ MC1DN9 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2. MIM:252010 MC1DN1 disease_ontology DOID:0112074 nuclear type mitochondrial complex I deficiency 1 DOID:0112074 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2. url:https://pubmed.ncbi.nlm.nih.gov/10330338/ url:https://pubmed.ncbi.nlm.nih.gov/10944442/ MC1DN1 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1. MIM:618233 MC1DN10 disease_ontology DOID:0112075 nuclear type mitochondrial complex I deficiency 10 DOID:0112075 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1. url:https://pubmed.ncbi.nlm.nih.gov/16200211/ MC1DN10 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3. MIM:618235 MC1DN13 disease_ontology DOID:0112076 nuclear type mitochondrial complex I deficiency 13 DOID:0112076 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3. url:https://pubmed.ncbi.nlm.nih.gov/18513682/ MC1DN13 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1. MIM:618237 MC1DN15 disease_ontology DOID:0112077 nuclear type mitochondrial complex I deficiency 15 DOID:0112077 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1. url:https://pubmed.ncbi.nlm.nih.gov/18179882/ MC1DN15 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1. MIM:618239 MC1DN17 disease_ontology DOID:0112078 nuclear type mitochondrial complex I deficiency 17 DOID:0112078 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1. url:https://pubmed.ncbi.nlm.nih.gov/18614015/ MC1DN17 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13. MIM:618245 MC1DN24 disease_ontology DOID:0112079 nuclear type mitochondrial complex I deficiency 24 DOID:0112079 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13. url:https://pubmed.ncbi.nlm.nih.gov/22200994/ MC1DN24 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31. MIM:618252 MC1DN32 disease_ontology DOID:0112080 nuclear type mitochondrial complex I deficiency 32 DOID:0112080 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31. url:https://pubmed.ncbi.nlm.nih.gov/29429571/ MC1DN32 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2. MIM:618230 MC1DN8 disease_ontology DOID:0112081 nuclear type mitochondrial complex I deficiency 8 DOID:0112081 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2. url:https://pubmed.ncbi.nlm.nih.gov/14729820/ MC1DN8 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2. MIM:618225 MC1DN4 disease_ontology DOID:0112082 nuclear type mitochondrial complex I deficiency 4 DOID:0112082 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2. url:https://pubmed.ncbi.nlm.nih.gov/10080174/ MC1DN4 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2. MIM:618222 MC1DN2 disease_ontology DOID:0112083 nuclear type mitochondrial complex I deficiency 2 DOID:0112083 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2. url:https://pubmed.ncbi.nlm.nih.gov/9837812/ MC1DN2 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1. MIM:618250 MC1DN29 disease_ontology DOID:0112084 nuclear type mitochondrial complex I deficiency 29 DOID:0112084 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1. url:https://pubmed.ncbi.nlm.nih.gov/27374773/ MC1DN29 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2. MIM:618241 MC1DN19 disease_ontology DOID:0112085 nuclear type mitochondrial complex I deficiency 19 DOID:0112085 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2. url:https://pubmed.ncbi.nlm.nih.gov/20818383/ MC1DN19 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32. MIM:618247 MC1DN26 disease_ontology DOID:0112086 nuclear type mitochondrial complex I deficiency 26 DOID:0112086 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32. url:https://pubmed.ncbi.nlm.nih.gov/22114105/ MC1DN26 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22. MIM:618244 MC1DN23 disease_ontology DOID:0112087 nuclear type mitochondrial complex I deficiency 23 DOID:0112087 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22. url:https://pubmed.ncbi.nlm.nih.gov/21617257/ MC1DN23 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12. MIM:618242 MC1DN21 disease_ontology DOID:0112088 nuclear type mitochondrial complex I deficiency 21 DOID:0112088 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12. url:https://pubmed.ncbi.nlm.nih.gov/20818383/ MC1DN21 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1. MIM:618234 MC1DN11 disease_ontology DOID:0112089 nuclear type mitochondrial complex I deficiency 11 DOID:0112089 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1. url:https://pubmed.ncbi.nlm.nih.gov/17557076/ MC1DN11 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31. MIM:618248 MC1DN27 disease_ontology DOID:0112090 nuclear type mitochondrial complex I deficiency 27 DOID:0112090 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31. url:https://pubmed.ncbi.nlm.nih.gov/22499348/ MC1DN27 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3. MIM:618776 MC1DN34 disease_ontology DOID:0112091 nuclear type mitochondrial complex I deficiency 34 DOID:0112091 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3. url:https://pubmed.ncbi.nlm.nih.gov/31866046/ MC1DN34 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22. MIM:618229 MC1DN7 disease_ontology DOID:0112092 nuclear type mitochondrial complex I deficiency 7 DOID:0112092 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22. url:https://pubmed.ncbi.nlm.nih.gov/12754703/ MC1DN7 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3. MIM:618224 MC1DN3 disease_ontology DOID:0112093 nuclear type mitochondrial complex I deficiency 3 DOID:0112093 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3. url:https://pubmed.ncbi.nlm.nih.gov/10330338/ url:https://pubmed.ncbi.nlm.nih.gov/17275378/ MC1DN3 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA11 gene on chromosome 19p13.3. MIM:618236 MC1DN14 disease_ontology DOID:0112094 nuclear type mitochondrial complex I deficiency 14 DOID:0112094 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA11 gene on chromosome 19p13.3. url:https://pubmed.ncbi.nlm.nih.gov/18306244/ MC1DN14 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11. MIM:618249 MC1DN28 disease_ontology DOID:0112095 nuclear type mitochondrial complex I deficiency 28 DOID:0112095 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11. url:https://pubmed.ncbi.nlm.nih.gov/25901006/ MC1DN28 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1. MIM:618238 MC1DN16 disease_ontology DOID:0112096 nuclear type mitochondrial complex I deficiency 16 DOID:0112096 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1. url:https://pubmed.ncbi.nlm.nih.gov/18940309/ MC1DN16 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2. MIM:618253 MC1DN33 disease_ontology DOID:0112097 nuclear type mitochondrial complex I deficiency 33 DOID:0112097 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2. url:https://pubmed.ncbi.nlm.nih.gov/30245030/ MC1DN33 A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3. MIM:301021 MC1DN30 disease_ontology DOID:0112098 nuclear type mitochondrial complex I deficiency 30 DOID:0112098 A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3. url:https://pubmed.ncbi.nlm.nih.gov/26741492/ MC1DN30 A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24. MIM:301020 MC1DN12 disease_ontology DOID:0112099 nuclear type mitochondrial complex I deficiency 12 DOID:0112099 A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24. url:https://pubmed.ncbi.nlm.nih.gov/17262856/ MC1DN12 A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome. MC1DM disease_ontology DOID:0112100 mitochondrial type mitochondrial complex I deficiency DOID:0112100 A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome. url:https://pubmed.ncbi.nlm.nih.gov/22972949/ MC1DM A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome. MIM:500014 MC1DM1 disease_ontology DOID:0112101 mitochondrial type mitochondrial complex I deficiency 1 DOID:0112101 A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome. url:https://pubmed.ncbi.nlm.nih.gov/11456298/ MC1DM1 A Sotos syndrome that has_material_basis_in heterozygous mutation in the NFIX gene on chromosome 19p13. MIM:614753 SOTOS2 disease_ontology DOID:0112102 Sotos syndrome 2 DOID:0112102 A Sotos syndrome that has_material_basis_in heterozygous mutation in the NFIX gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/20673863/ SOTOS2 A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene. MIM:117550 SOTOS1 disease_ontology DOID:0112103 Sotos syndrome 1 DOID:0112103 A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene. url:https://pubmed.ncbi.nlm.nih.gov/11896389/ url:https://pubmed.ncbi.nlm.nih.gov/14517949/ SOTOS1 A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3. MIM:617169 SOTOS3 disease_ontology DOID:0112104 Sotos syndrome 3 DOID:0112104 A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3. url:https://pubmed.ncbi.nlm.nih.gov/25753423/ SOTOS3 A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4. MIM:300911 ORDO:363654 X-linked Parkinsonism with spasticity XPDS disease_ontology DOID:0112105 X-linked parkinsonism-spasticity syndrome DOID:0112105 A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4. url:https://pubmed.ncbi.nlm.nih.gov/20629132/ url:https://pubmed.ncbi.nlm.nih.gov/23595882/ XPDS A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23. MIM:300863 ORDO:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome disease_ontology DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia DOID:0112106 A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23. url:https://pubmed.ncbi.nlm.nih.gov/16001442/ A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1. GARD:10731 MESH:C564038 MIM:300842 ORDO:59306 SNOMEDCT_US_2023_03_01:234411007 UMLS_CUI:C0398568 MLS McLeod neuroacanthocytosis syndrome McLeod syndrome with or without chronic granulomatous disease McLeod type neuroacanthocytosis X-linked McLeod syndrome disease_ontology DOID:0112107 McLeod syndrome DOID:0112107 A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1. url:https://medlineplus.gov/genetics/condition/mcleod-neuroacanthocytosis-syndrome/ url:https://pubmed.ncbi.nlm.nih.gov/17683354/ url:https://pubmed.ncbi.nlm.nih.gov/8004674/ MLS A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23. MIM:619040 MFM10 disease_ontology DOID:0112108 myofibrillar myopathy 10 DOID:0112108 A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23. url:https://pubmed.ncbi.nlm.nih.gov/32779703/ MFM10 A spermatogenic failure characterized by high prevalence of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the CEP112 gene on chromosome 17q24.1. MIM:619044 SPGF44 disease_ontology DOID:0112109 spermatogenic failure 44 DOID:0112109 A spermatogenic failure characterized by high prevalence of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the CEP112 gene on chromosome 17q24.1. url:https://pubmed.ncbi.nlm.nih.gov/31654588/ SPGF44 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2. MIM:619024 COXPD49 disease_ontology DOID:0112110 combined oxidative phosphorylation deficiency 49 DOID:0112110 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2. url:https://pubmed.ncbi.nlm.nih.gov/29361167/ COXPD49 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1. MIM:619025 COXPD50 disease_ontology DOID:0112111 combined oxidative phosphorylation deficiency 50 DOID:0112111 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1. url:https://pubmed.ncbi.nlm.nih.gov/31039582/ COXPD50 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2. MIM:619012 COXPD48 disease_ontology DOID:0112112 combined oxidative phosphorylation deficiency 48 DOID:0112112 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2. url:https://pubmed.ncbi.nlm.nih.gov/27356879/ COXPD48 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3. MIM:618951 COXPD45 disease_ontology DOID:0112113 combined oxidative phosphorylation deficiency 45 DOID:0112113 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3. url:https://pubmed.ncbi.nlm.nih.gov/23603806/ COXPD45 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13. MIM:618958 COXPD47 disease_ontology DOID:0112114 combined oxidative phosphorylation deficiency 47 DOID:0112114 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13. url:https://pubmed.ncbi.nlm.nih.gov/30566640/ COXPD47 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22. MIM:618952 COXPD46 disease_ontology DOID:0112115 combined oxidative phosphorylation deficiency 46 DOID:0112115 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22. url:https://pubmed.ncbi.nlm.nih.gov/26741492/ COXPD46 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3. MIM:618851 COXPD43 disease_ontology DOID:0112116 combined oxidative phosphorylation deficiency 43 DOID:0112116 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3. url:https://pubmed.ncbi.nlm.nih.gov/30452684/ COXPD43 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21. MIM:618835 ORDO:570491 COXPD40 QRSL1-related COXPD disease_ontology DOID:0112117 combined oxidative phosphorylation deficiency 40 DOID:0112117 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21. url:https://pubmed.ncbi.nlm.nih.gov/26741492/ COXPD40 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. MIM:618839 COXPD42 disease_ontology DOID:0112118 combined oxidative phosphorylation deficiency 42 DOID:0112118 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. url:https://pubmed.ncbi.nlm.nih.gov/30283131/ COXPD42 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3. MIM:618838 COXPD41 disease_ontology DOID:0112119 combined oxidative phosphorylation deficiency 41 DOID:0112119 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3. url:https://pubmed.ncbi.nlm.nih.gov/30283131/ COXPD41 A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively. MIM:300582 ORDO:314795 idiopathic familial short stature disease_ontology DOID:0112120 SHOX-related short stature DOID:0112120 A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively. url:https://pubmed.ncbi.nlm.nih.gov/9140395/ url:https://pubmed.ncbi.nlm.nih.gov/9916840/ A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28. MESH:C564491 MIM:300539 ORDO:93606 SNOMEDCT_US_2023_03_01:723440000 UMLS_CUI:C1845202 NSIAD disease_ontology DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis DOID:0112121 A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28. url:https://pubmed.ncbi.nlm.nih.gov/15872203/ NSIAD An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2. MESH:C564505 MIM:300491 ORDO:85294 UMLS_CUI:C1845343 X-linked epilepsy-learning disabilities-behavior disorders syndrome disease_ontology DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders DOID:0112122 An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2. url:https://pubmed.ncbi.nlm.nih.gov/14985377/ url:https://pubmed.ncbi.nlm.nih.gov/21441247/ A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28. GARD:12472 MIM:300475 ORDO:369939 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome disease_ontology DOID:0112123 deafness, dystonia, and cerebral hypomyelination DOID:0112123 A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28. url:https://pubmed.ncbi.nlm.nih.gov/24011989/ A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4. MIM:300455 ORDO:247522 primary ciliary dyskinesia-retinitis pigmentosa syndrome disease_ontology DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections DOID:0112124 A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4. url:https://pubmed.ncbi.nlm.nih.gov/10094550/ url:https://pubmed.ncbi.nlm.nih.gov/1733835/ A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1. MESH:C563023 MIM:300448 ORDO:231401 SNOMEDCT_US_2023_03_01:307343001 UMLS_CUI:C0585216 ATMDS acquired HbH disease acquired hemoglobin H disease alpha-thalassemia-myelodysplastic syndrome disease_ontology DOID:0112125 alpha-thalassemia myelodysplasia syndrome DOID:0112125 A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1. url:https://pubmed.ncbi.nlm.nih.gov/12858175/ ATMDS A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22. MIM:300434 ORDO:85288 SDSX Stocco dos Santos X-linked mental retardation syndrome disease_ontology DOID:0112126 Stocco Dos Santos type X-linked intellectual disability DOID:0112126 A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22. url:https://pubmed.ncbi.nlm.nih.gov/16249884/ SDSX A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3. MIM:300323 ORDO:79233 HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency disease_ontology DOID:0112127 HRPT-related hyperuricemia DOID:0112127 A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3. url:https://pubmed.ncbi.nlm.nih.gov/10657589/ url:https://pubmed.ncbi.nlm.nih.gov/2896620/ A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. GARD:3981 MESH:C564539 MIM:300299 NCI:C176818 ORDO:86788 SNOMEDCT_US_2023_03_01:718882006 UMLS_CUI:C1845987 SCNX XLN disease_ontology DOID:0112128 X-linked severe congenital neutropenia DOID:0112128 A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. url:https://pubmed.ncbi.nlm.nih.gov/11242115/ SCNX XLN A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3. MIM:617014 ORDO:420702 SCN7 autosomal recessive severe congenital neutropenia due to CSF3R deficiency disease_ontology DOID:0112129 severe congenital neutropenia 7 DOID:0112129 A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3. url:https://pubmed.ncbi.nlm.nih.gov/24753537/ url:https://pubmed.ncbi.nlm.nih.gov/26324699/ SCN7 A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene. GARD:9558 ORDO:486 disease_ontology DOID:0112130 autosomal dominant severe congenital neutropenia DOID:0112130 A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene. url:https://medlineplus.gov/genetics/condition/severe-congenital-neutropenia url:https://pubmed.ncbi.nlm.nih.gov/28593997/ An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1. MIM:613107 SCN2 disease_ontology DOID:0112131 severe congenital neutropenia 2 DOID:0112131 An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1. url:https://pubmed.ncbi.nlm.nih.gov/12778173/ SCN2 A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2. MIM:615285 ORDO:369852 SCN5 VPS45 deficiency congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome congenital neutropenia-myelofibrosis-nephromegaly syndrome disease_ontology DOID:0112132 severe congenital neutropenia 5 DOID:0112132 A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2. url:https://pubmed.ncbi.nlm.nih.gov/23599270/ url:https://pubmed.ncbi.nlm.nih.gov/23738510/ SCN5 A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. GARD:302 MIM:610738 ORDO:99749 Kostmann disease Kostmann syndrome SCN3 infantile agranulocytosis disease_ontology DOID:0112133 severe congenital neutropenia 3 DOID:0112133 A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. url:https://pubmed.ncbi.nlm.nih.gov/17187068/ url:https://pubmed.ncbi.nlm.nih.gov/21108402/ SCN3 A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3. MIM:616022 ORDO:423384 SCN6 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency disease_ontology DOID:0112134 severe congenital neutropenia 6 DOID:0112134 A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3. url:https://pubmed.ncbi.nlm.nih.gov/25129144/ SCN6 An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2. MIM:618752 SCN8 SDSL Shwachman-Diamond syndrome-like autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities disease_ontology DOID:0112135 severe congenital neutropenia 8 DOID:0112135 An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2. url:https://pubmed.ncbi.nlm.nih.gov/28972538/ SCN8 SDSL A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. MIM:612541 ORDO:331176 Dursun syndrome SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome disease_ontology DOID:0112136 severe congenital neutropenia 4 DOID:0112136 A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. url:https://pubmed.ncbi.nlm.nih.gov/19118303/ SCN4 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2. MIM:619057 COXPD51 disease_ontology DOID:0112137 combined oxidative phosphorylation deficiency 51 DOID:0112137 A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2. url:https://pubmed.ncbi.nlm.nih.gov/30607703/ COXPD51 A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31. MIM:619028 COQ10D9 disease_ontology DOID:0112138 primary coenzyme Q10 deficiency 9 DOID:0112138 A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31. url:https://pubmed.ncbi.nlm.nih.gov/29044765/ COQ10D9 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3. MIM:619003 MC1DN35 disease_ontology DOID:0112139 nuclear type mitochondrial complex I deficiency 35 DOID:0112139 A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3. url:https://pubmed.ncbi.nlm.nih.gov/28040730/ MC1DN35 A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32. MIM:618173 RP83 disease_ontology DOID:0112140 retinitis pigmentosa 83 DOID:0112140 A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32. url:https://pubmed.ncbi.nlm.nih.gov/30932721/ RP83 A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2. MIM:618220 RP84 disease_ontology DOID:0112141 retinitis pigmentosa 84 DOID:0112141 A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2. url:https://pubmed.ncbi.nlm.nih.gov/24737827/ url:https://pubmed.ncbi.nlm.nih.gov/30208423/ RP84 A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1. MIM:618345 RP85 disease_ontology DOID:0112142 retinitis pigmentosa 85 DOID:0112142 A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1. url:https://pubmed.ncbi.nlm.nih.gov/29726989/ RP85 A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the KIAA1549 gene on chromosome 7q34. MIM:618613 RP86 disease_ontology DOID:0112143 retinitis pigmentosa 86 DOID:0112143 A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the KIAA1549 gene on chromosome 7q34. url:https://pubmed.ncbi.nlm.nih.gov/30120214/ RP86 A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3. MIM:618697 RP87 retinitis pigmentosa 87 with choroidal involvement disease_ontology DOID:0112144 retinitis pigmentosa 87 DOID:0112144 A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3. url:https://pubmed.ncbi.nlm.nih.gov/27307694/ url:https://pubmed.ncbi.nlm.nih.gov/30628748/ RP87 A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1. MIM:618826 RP88 disease_ontology DOID:0112145 retinitis pigmentosa 88 DOID:0112145 A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1. url:https://pubmed.ncbi.nlm.nih.gov/30025130/ url:https://pubmed.ncbi.nlm.nih.gov/31236346/ url:https://pubmed.ncbi.nlm.nih.gov/31833436/ RP88 A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the KIF3B gene on chromosome 20q11.21. MIM:618955 RP89 disease_ontology DOID:0112146 retinitis pigmentosa 89 DOID:0112146 A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the KIF3B gene on chromosome 20q11.21. url:https://pubmed.ncbi.nlm.nih.gov/32386558/ RP89 A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1. MIM:619007 RP90 disease_ontology DOID:0112147 retinitis pigmentosa 90 DOID:0112147 A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1. url:https://pubmed.ncbi.nlm.nih.gov/28412069/ RP90 A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3. MESH:C564544 MIM:300280 FCMSU disease_ontology DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome DOID:0112148 A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3. url:https://pubmed.ncbi.nlm.nih.gov/11102932/ url:https://pubmed.ncbi.nlm.nih.gov/26933038/ FCMSU A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28. MESH:C564554 MIM:300244 ORDO:88630 UMLS_CUI:C1846129 ODPD ODPF syndrome TOD TODPD digital osseous dysplasia with facial pigmentary defects and multiple frenula terminal osseous dysplasia-pigmentary defects syndrome disease_ontology DOID:0112149 terminal osseous dysplasia DOID:0112149 A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28. url:https://pubmed.ncbi.nlm.nih.gov/20598277/ ODPD TOD TODPD A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. GARD:4979 MESH:C564714 MIM:300106 NCI:C188996 ORDO:93349 SNOMEDCT_US_2023_03_01:770603000 UMLS_CUI:C1848097 SEMD X-linked SEMDX disease_ontology DOID:0112150 X-linked spondyloepimetaphyseal dysplasia DOID:0112150 A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. url:https://pubmed.ncbi.nlm.nih.gov/27236923/ url:https://pubmed.ncbi.nlm.nih.gov/8064814/ SEMDX A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3. GARD:4528 MIM:300004 ORDO:2508 ACC with abnormal genitalia Proud syndrome Proud-Levine-Carpenter syndrome corpus callosum agenesis with abnormal genitalia microcephaly-corpus callosum agenesis-abnormal genitalia syndrome disease_ontology DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome DOID:0112151 A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3. url:https://pubmed.ncbi.nlm.nih.gov/14722918/ url:https://pubmed.ncbi.nlm.nih.gov/1605226/ A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2. GARD:310 MESH:C536729 MIM:280000 ORDO:3474 SNOMEDCT_US_2023_03_01:720639008 UMLS_CUI:C1848392 PIGL-CDG Zunich neuroectodermal syndrome Zunich-Kaye syndrome coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome congenital disorder of glycosylation due to PIGL deficiency neuroectodermal dysplasia, CHIME type neuroectodermal syndrome, Zunich type disease_ontology DOID:0112152 CHIME syndrome DOID:0112152 A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2. url:https://pubmed.ncbi.nlm.nih.gov/22444671/ PIGL-CDG A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. MIM:619071 HLD20 disease_ontology DOID:0112153 hypomyelinating leukodystrophy 20 DOID:0112153 A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. url:https://pubmed.ncbi.nlm.nih.gov/32128616/ HLD20 An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33. MIM:619079 IBD30 inflammatory bowel disease (Crohn disease) 30 disease_ontology DOID:0112154 inflammatory bowel disease 30 DOID:0112154 An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33. url:https://pubmed.ncbi.nlm.nih.gov/29408806/ IBD30 An inflammatory bowel disease that has_material_basis_in heterozygous mutation in the INAVA gene on chromosome 1q32.1. MIM:618077 IBD29 disease_ontology DOID:0112155 inflammatory bowel disease 29 DOID:0112155 An inflammatory bowel disease that has_material_basis_in heterozygous mutation in the INAVA gene on chromosome 1q32.1. url:https://pubmed.ncbi.nlm.nih.gov/29420262/ IBD29 An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen. MIM:300835 ORDO:363727 X-linked anemia with/without neutropenia and/or platelet abnormalities X-linked dyserythropoietic anemia with abnormal platelets and neutropenia disease_ontology DOID:0112156 X-linked dyserythropoietic anemia DOID:0112156 An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen. url:https://pubmed.ncbi.nlm.nih.gov/16783379/ url:https://pubmed.ncbi.nlm.nih.gov/22706301/ A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4. MIM:300834 disease_ontology DOID:0112157 X-linked atrophic macular degeneration DOID:0112157 A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4. url:https://pubmed.ncbi.nlm.nih.gov/12160730/ A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. GARD:8276 MESH:C535992 MIM:278800 NCI:C84666 ORDO:1569 SNOMEDCT_US_2023_03_01:254201008 UMLS_CUI:C0265201 xeroderma pigmentosum with neurologic manifestation disease_ontology DOID:0112158 De Sanctis-Cacchione syndrome DOID:0112158 A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. url:https://pubmed.ncbi.nlm.nih.gov/10767341/ url:https://pubmed.ncbi.nlm.nih.gov/2168777/ url:https://pubmed.ncbi.nlm.nih.gov/28491977/ An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3. MIM:619081 DFNA78 disease_ontology DOID:0112159 autosomal dominant nonsyndromic deafness 78 DOID:0112159 An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3. url:https://pubmed.ncbi.nlm.nih.gov/32294086/ DFNA78 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22. MIM:619086 DFNA79 disease_ontology DOID:0112160 autosomal dominant nonsyndromic deafness 79 DOID:0112160 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22. url:https://pubmed.ncbi.nlm.nih.gov/31972369/ DFNA79 A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase. MIM:619087 NS13 disease_ontology DOID:0112161 Noonan syndrome 13 DOID:0112161 A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase. url:https://pubmed.ncbi.nlm.nih.gov/32721402/ NS13 An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3. MIM:619093 DFNB116 disease_ontology DOID:0112162 autosomal recessive nonsyndromic deafness 116 DOID:0112162 An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3. url:https://pubmed.ncbi.nlm.nih.gov/31175426/ DFNB116 A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1. MIM:619094 SPGF45 disease_ontology DOID:0112163 spermatogenic failure 45 DOID:0112163 A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1. url:https://pubmed.ncbi.nlm.nih.gov/30811583/ SPGF45 A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2. MIM:619095 SPGF46 disease_ontology DOID:0112164 spermatogenic failure 46 DOID:0112164 A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2. url:https://pubmed.ncbi.nlm.nih.gov/32619401/ url:https://pubmed.ncbi.nlm.nih.gov/32681648/ SPGF46 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3. MIM:618140 DFNA74 disease_ontology DOID:0112165 autosomal dominant nonsyndromic deafness 74 DOID:0112165 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3. url:https://pubmed.ncbi.nlm.nih.gov/29860631/ DFNA74 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1. MIM:618778 DFNA75 disease_ontology DOID:0112166 autosomal dominant nonsyndromic deafness 75 DOID:0112166 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1. url:https://pubmed.ncbi.nlm.nih.gov/31231791/ DFNA75 An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23. MIM:618787 DFNA76 disease_ontology DOID:0112167 autosomal dominant nonsyndromic deafness 76 DOID:0112167 An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23. url:https://pubmed.ncbi.nlm.nih.gov/30872814/ url:https://pubmed.ncbi.nlm.nih.gov/31397523/ url:https://pubmed.ncbi.nlm.nih.gov/31432506/ DFNA76 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11. MIM:618915 DFNA77 disease_ontology DOID:0112168 autosomal dominant nonsyndromic deafness 77 DOID:0112168 An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11. url:https://pubmed.ncbi.nlm.nih.gov/31273342/ DFNA77 A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3. MIM:618499 NS11 disease_ontology DOID:0112169 Noonan syndrome 11 DOID:0112169 A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3. url:https://pubmed.ncbi.nlm.nih.gov/28289718/ NS11 A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2. MIM:618624 NS12 disease_ontology DOID:0112170 Noonan syndrome 12 DOID:0112170 A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2. url:https://pubmed.ncbi.nlm.nih.gov/31130282/ url:https://pubmed.ncbi.nlm.nih.gov/31130285/ NS12 A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31. GARD:273 MESH:C536750 MIM:278250 ORDO:2834 SNOMEDCT_US_2023_03_01:238875009 UMLS_CUI:C0406587 WSS disease_ontology DOID:0112171 wrinkly skin syndrome DOID:0112171 A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31. url:https://pubmed.ncbi.nlm.nih.gov/18157129/ url:https://pubmed.ncbi.nlm.nih.gov/4765201/ url:https://www.ncbi.nlm.nih.gov/books/NBK5200/ WSS A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation. ORDO:98434 SNOMEDCT_US_2023_03_01:724356003 UMLS_CUI:C4510617 VKCFD hereditary combined deficiency of factors II, VII, IX and X disease_ontology DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors DOID:0112172 A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation. url:https://pubmed.ncbi.nlm.nih.gov/20630065/ VKCFD A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2. MESH:C564741 MIM:277450 UMLS_CUI:C1848534 VKCFD1 disease_ontology DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 DOID:0112173 A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2. url:https://pubmed.ncbi.nlm.nih.gov/9845520/ VKCFD1 A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2. MESH:C564393 MIM:607473 VKCFD2 disease_ontology DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 DOID:0112174 A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2. url:https://pubmed.ncbi.nlm.nih.gov/14765194/ VKCFD2 A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DZIP1 gene on chromosome 13q32.1. MIM:619102 SPGF47 disease_ontology DOID:0112175 spermatogenic failure 47 DOID:0112175 A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DZIP1 gene on chromosome 13q32.1. url:https://pubmed.ncbi.nlm.nih.gov/32051257/ SPGF47 A spermatogenic failure that is characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1. MIM:619108 SPGF48 disease_ontology DOID:0112176 spermatogenic failure 48 DOID:0112176 A spermatogenic failure that is characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1. url:https://pubmed.ncbi.nlm.nih.gov/32017041/ url:https://pubmed.ncbi.nlm.nih.gov/32673564/ SPGF48 A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype. ORDO:3109 MRKH syndrome Rokitansky syndrome disease_ontology DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome DOID:0112177 A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype. url:https://pubmed.ncbi.nlm.nih.gov/32819397/ A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype. MIM:277000 ORDO:247775 MRKH syndrome type 1 Rokitansky sequence congenital absence of uterus and vagina disease_ontology DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 DOID:0112178 A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype. url:https://pubmed.ncbi.nlm.nih.gov/16691591/ A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. MIM:601076 ORDO:2578 MRKH syndrome type 2 MURCS MURCS association atypical MRKH syndrome mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome disease_ontology DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 DOID:0112179 A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. url:https://pubmed.ncbi.nlm.nih.gov/469663/ MURCS A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3. GARD:8539 MESH:C536479 MIM:276880 ORDO:210128 SNOMEDCT_US_2023_03_01:60952007 UMLS_CUI:C0268514 UROCD encephalopathy due to urocanase deficiency high urine urocanic acid levels urocanate hydratase deficiency urocanic aciduria disease_ontology DOID:0112180 urocanase deficiency DOID:0112180 A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3. url:https://pubmed.ncbi.nlm.nih.gov/19304569/ url:https://pubmed.ncbi.nlm.nih.gov/6107814/ UROCD A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. GARD:9212 MIM:276820 ORDO:2879 AARRS Al Awadi-Raas-Rothschild syndrome Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome LPHAS Schinzel phocomelia syndrome absence of ulna and fibula with severe limb deficiency aplasia/hypoplasia of limbs and pelvis congenital absence of ulna and fibula limb/pelvis-hypoplasia/aplasia syndrome severe limb deficit disease_ontology DOID:0112181 Schinzel type phocomelia DOID:0112181 A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. url:https://pubmed.ncbi.nlm.nih.gov/16826533/ url:https://pubmed.ncbi.nlm.nih.gov/20949531/ AARRS LPHAS A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively. MIM:276300 ORDO:252202 BTP1 syndrome BTPS1 CMMR-D syndrome CMMRDS MMR deficiency Turcot syndrome brain tumor-polyposis syndrome 1 childhood cancer syndrome constitutional mismatch repair deficiency syndrome disease_ontology DOID:0112182 mismatch repair cancer syndrome DOID:0112182 A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively. url:https://pubmed.ncbi.nlm.nih.gov/24737826/ url:https://pubmed.ncbi.nlm.nih.gov/7661930/ BTPS1 CMMRDS A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis. ORDO:95716 disease_ontology DOID:0112183 familial thyroid dyshormonogenesis DOID:0112183 A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis. url:https://pubmed.ncbi.nlm.nih.gov/15863666/ A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1. MESH:C562771 MIM:274900 TDH5 genetic defect in thyroid hormonogenesis 5 disease_ontology DOID:0112184 thyroid dyshormonogenesis 5 DOID:0112184 A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1. url:https://pubmed.ncbi.nlm.nih.gov/18042646/ TDH5 A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11. MESH:C564766 MIM:274400 TDH1 genetic defect in thyroid hormonogenesis 1 iodide accumulation, transport, or trapping defect disease_ontology DOID:0112185 thyroid dyshormonogenesis 1 DOID:0112185 A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11. url:https://pubmed.ncbi.nlm.nih.gov/9171822/ TDH1 A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3. MESH:C563206 MIM:274500 TDH2A genetic defect in thyroid hormonogenesis 2A iodide peroxidase deficiency thyroid peroxidase deficiency disease_ontology DOID:0112186 thyroid dyshormonogenesis 2A DOID:0112186 A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3. url:https://pubmed.ncbi.nlm.nih.gov/1401057/ TDH2A A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22. MESH:C562769 MIM:274700 TDH3 genetic defect in thyroid hormonogenesis 3 disease_ontology DOID:0112187 thyroid dyshormonogenesis 3 DOID:0112187 A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22. url:https://pubmed.ncbi.nlm.nih.gov/17244789/ TDH3 A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1. MESH:C562770 MIM:274800 TDH4 deiodinase deficiency genetic defect in thyroid hormonogenesis 4 iodotyrosine dehalogenase deficiency disease_ontology DOID:0112188 thyroid dyshormonogenesis 4 DOID:0112188 A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1. url:https://pubmed.ncbi.nlm.nih.gov/18434651/ TDH4 A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1. MESH:C564608 MIM:607200 TDH6 genetic defect in thyroid hormonogenesis 6 disease_ontology DOID:0112189 thyroid dyshormonogenesis 6 DOID:0112189 A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1. url:https://pubmed.ncbi.nlm.nih.gov/12110737/ TDH6 A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2. MIM:619110 DA1C disease_ontology DOID:0112190 distal arthrogryposis type 1C DOID:0112190 A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2. url:https://pubmed.ncbi.nlm.nih.gov/32707087/ DA1C A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system. GARD:386 ORDO:3301 TETAMS tetra-amelia syndrome tetraamelia-multiple malformations syndrome disease_ontology DOID:0112191 tetraamelia syndrome DOID:0112191 A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system. url:https://medlineplus.gov/genetics/condition/tetra-amelia-syndrome/ url:https://pubmed.ncbi.nlm.nih.gov/16283889/ TETAMS A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32. GARD:5148 MIM:273395 TETAMS1 tetra-amelia syndrome 1 disease_ontology DOID:0112192 tetraamelia syndrome 1 DOID:0112192 A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32. url:https://pubmed.ncbi.nlm.nih.gov/14872406/ TETAMS1 A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1. GARD:5147 MIM:618021 TETAMS2 tetra-amelia with pulmonary hypoplasia tetraamelia with pulmonary hypoplasia disease_ontology DOID:0112193 tetraamelia syndrome 2 DOID:0112193 A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1. url:https://pubmed.ncbi.nlm.nih.gov/16283889/ url:https://pubmed.ncbi.nlm.nih.gov/29769720/ TETAMS2 A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1. GARD:62 MESH:C538152 MIM:272440 ORDO:3255 Scott craniodigital syndrome with mental retardation type 1 syndactyly-microcephaly-intellectual disability syndrome disease_ontology DOID:0112194 Filippi syndrome DOID:0112194 A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1. url:https://pubmed.ncbi.nlm.nih.gov/18553552/ url:https://pubmed.ncbi.nlm.nih.gov/25439729/ An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. MIM:271700 ORDO:1856 spondyloperipheral dysplasia-short ulna syndrome disease_ontology DOID:0112195 spondyloperipheral dysplasia DOID:0112195 An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. url:https://pubmed.ncbi.nlm.nih.gov/15316962/ url:https://pubmed.ncbi.nlm.nih.gov/8723097/ A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3. GARD:10616 MESH:C564794 MIM:271665 ORDO:93358 UMLS_CUI:C1849011 SMED short limb-abnormal calcification type SMED short limb-hand type SMED type 2 SMED, type II SMED-SL SMED-SL/AC spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome spondylometaepiphyseal dysplasia short limb-hand type disease_ontology DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type DOID:0112196 A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3. url:https://pubmed.ncbi.nlm.nih.gov/31406622/ url:https://pubmed.ncbi.nlm.nih.gov/8434618/ SMED-SL SMED-SL/AC A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility. GARD:4982 MESH:C562968 MIM:PS271640 ORDO:93359 SEMDJL disease_ontology DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity DOID:0112197 A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility. url:https://pubmed.ncbi.nlm.nih.gov/30358852/ SEMDJL A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33. MIM:271640 SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures disease_ontology DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 DOID:0112198 A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33. url:https://pubmed.ncbi.nlm.nih.gov/10482874/ SEMDJL1 A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2. MIM:603546 ORDO:93360 SEMD-MD SEMDJL2 spondyloepimetaphyseal dysplasia with joint laxicity, Hall type spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type disease_ontology DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 DOID:0112199 A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2. url:https://pubmed.ncbi.nlm.nih.gov/19277648/ url:https://pubmed.ncbi.nlm.nih.gov/22152677/ SEMD-MD SEMDJL2 A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2. MIM:618395 SEMDJL3 disease_ontology DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 DOID:0112200 A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2. url:https://pubmed.ncbi.nlm.nih.gov/26669664/ SEMDJL3 An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1. MIM:619131 OI21 osteogenesis imperfecta type XXI disease_ontology DOID:0112201 osteogenesis imperfecta type 21 DOID:0112201 An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1. url:https://pubmed.ncbi.nlm.nih.gov/33053334/ OI21 An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood. MIM:PS308350 disease_ontology DOID:0112202 developmental and epileptic encephalopathy DOID:0112202 An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood. url:https://pubmed.ncbi.nlm.nih.gov/28276062/ url:https://pubmed.ncbi.nlm.nih.gov/31926847/ A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12. MIM:618141 DEE67 early infantile epileptic encephalopathy 67 disease_ontology DOID:0112203 developmental and epileptic encephalopathy 67 DOID:0112203 A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12. url:https://pubmed.ncbi.nlm.nih.gov/29630738/ DEE67 A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1. MIM:618201 DEE68 early infantile epileptic encephalopathy 68 disease_ontology DOID:0112204 developmental and epileptic encephalopathy 68 DOID:0112204 A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1. url:https://pubmed.ncbi.nlm.nih.gov/28364549/ DEE68 A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3. MIM:618285 DEE69 early infantile epileptic encephalopathy 69 disease_ontology DOID:0112205 developmental and epileptic encephalopathy 69 DOID:0112205 A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3. url:https://pubmed.ncbi.nlm.nih.gov/30343943/ DEE69 A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1. MIM:618298 DEE70 early infantile epileptic encephalopathy 70 disease_ontology DOID:0112206 developmental and epileptic encephalopathy 70 DOID:0112206 A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1. url:https://pubmed.ncbi.nlm.nih.gov/30256902/ DEE70 A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. MIM:618328 DEE71 early infantile epileptic encephalopathy 71 glutaminase deficiency with neonatal epileptic encephalopathy disease_ontology DOID:0112207 developmental and epileptic encephalopathy 71 DOID:0112207 A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. url:https://pubmed.ncbi.nlm.nih.gov/30575854/ DEE71 A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12. MIM:618374 DEE72 early infantile epileptic encephalopathy 72 disease_ontology DOID:0112208 developmental and epileptic encephalopathy 72 DOID:0112208 A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12. url:https://pubmed.ncbi.nlm.nih.gov/30323019/ DEE72 A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1. MIM:618379 DEE73 early infantile epileptic encephalopathy 73 disease_ontology DOID:0112209 developmental and epileptic encephalopathy 73 DOID:0112209 A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1. url:https://pubmed.ncbi.nlm.nih.gov/30595371/ DEE73 A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. MIM:618396 DEE74 early infantile epileptic encephalopathy 74 disease_ontology DOID:0112210 developmental and epileptic encephalopathy 74 DOID:0112210 A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. url:https://pubmed.ncbi.nlm.nih.gov/27864268/ DEE74 A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3. MIM:618437 DEE75 early infantile epileptic encephalopathy 75 disease_ontology DOID:0112211 developmental and epileptic encephalopathy 75 DOID:0112211 A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3. url:https://pubmed.ncbi.nlm.nih.gov/29915213/ DEE75 A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1. MIM:618468 DECAM DEE76 developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination early infantile epileptic encephalopathy 76 disease_ontology DOID:0112212 developmental and epileptic encephalopathy 76 DOID:0112212 A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1. url:https://pubmed.ncbi.nlm.nih.gov/31031012/ DECAM DEE76 A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3. MIM:618548 DEE77 GPIBD19 MCAHS4 developmental and epileptic encephalopathy 77 early infantile epileptic encephalopathy 77 glycosylphosphatidylinositol biosynthesis defect 19 disease_ontology DOID:0112213 multiple congenital anomalies-hypotonia-seizures syndrome 4 DOID:0112213 A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3. url:https://pubmed.ncbi.nlm.nih.gov/31148362/ url:https://pubmed.ncbi.nlm.nih.gov/32588908/ DEE77 GPIBD19 MCAHS4 A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12. MIM:618557 DEE78 early infantile epileptic encephalopathy 78 disease_ontology DOID:0112214 developmental and epileptic encephalopathy 78 DOID:0112214 A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12. url:https://pubmed.ncbi.nlm.nih.gov/29422393/ url:https://pubmed.ncbi.nlm.nih.gov/29961870/ DEE78 A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12. MIM:618559 DEE79 early infantile epileptic encephalopathy 79 disease_ontology DOID:0112215 developmental and epileptic encephalopathy 79 DOID:0112215 A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12. url:https://pubmed.ncbi.nlm.nih.gov/29961870/ url:https://pubmed.ncbi.nlm.nih.gov/31056671/ DEE79 A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3. MIM:618580 DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20 disease_ontology DOID:0112216 developmental and epileptic encephalopathy 80 DOID:0112216 A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3. url:https://pubmed.ncbi.nlm.nih.gov/31256876/ DEE80 GPIBD20 A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2. MIM:618663 DEE81 early infantile epileptic encephalopathy 81 disease_ontology DOID:0112217 developmental and epileptic encephalopathy 81 DOID:0112217 A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2. url:https://pubmed.ncbi.nlm.nih.gov/30237576/ url:https://pubmed.ncbi.nlm.nih.gov/31688942/ DEE81 A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15. MIM:618744 DEE83 early infantile epileptic encephalopathy 83 disease_ontology DOID:0112218 developmental and epileptic encephalopathy 83 DOID:0112218 A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15. url:https://pubmed.ncbi.nlm.nih.gov/31820119/ DEE83 A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14. MIM:618792 DEE84 Jamuar syndrome early infantile epileptic encephalopathy 84 disease_ontology DOID:0112219 developmental and epileptic encephalopathy 84 DOID:0112219 A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14. url:https://pubmed.ncbi.nlm.nih.gov/32001716/ DEE84 A developmental and epileptic encephalopathy characterized by severe and persistent seizures associated with EEG abnormalities beginning in the first few months of life, global developmental delay, severe motor deficits, dystonic movements, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DALRD2 gene on chromosome 3p21.31. MIM:618910 DEE86 early infantile epileptic encephalopathy 86 disease_ontology DOID:0112220 developmental and epileptic encephalopathy 86 DOID:0112220 A developmental and epileptic encephalopathy characterized by severe and persistent seizures associated with EEG abnormalities beginning in the first few months of life, global developmental delay, severe motor deficits, dystonic movements, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DALRD2 gene on chromosome 3p21.31. url:https://pubmed.ncbi.nlm.nih.gov/32427860/ DEE86 A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21. MIM:618916 DEE87 early infantile epileptic encephalopathy 87 disease_ontology DOID:0112221 developmental and epileptic encephalopathy 87 DOID:0112221 A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21. url:https://pubmed.ncbi.nlm.nih.gov/32330417/ DEE87 A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15. MIM:618959 DEE88 early infantile epileptic encephalopathy 88 disease_ontology DOID:0112222 developmental and epileptic encephalopathy 88 DOID:0112222 A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15. url:https://pubmed.ncbi.nlm.nih.gov/31538237/ DEE88 A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1. MIM:619124 DEE89 early infantile epileptic encephalopathy 89 disease_ontology DOID:0112223 developmental and epileptic encephalopathy 89 DOID:0112223 A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1. url:https://pubmed.ncbi.nlm.nih.gov/32282878/ DEE89 An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12. GARD:11009 MIM:614078 ORDO:280586 gPAPP deficiency disease_ontology DOID:0112224 chondrodysplasia with joint dislocations gPAPP type DOID:0112224 An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12. url:https://pubmed.ncbi.nlm.nih.gov/21549340/ url:https://pubmed.ncbi.nlm.nih.gov/22887726/ A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2. MIM:233910 ORDO:2102 GTP cyclohydrolase 1 deficiency HPABH4B tetrahydrobiopterin-deficient hyperphenylalaninemia B disease_ontology DOID:0112225 BH4-deficient hyperphenylalaninemia B DOID:0112225 A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2. url:https://pubmed.ncbi.nlm.nih.gov/7869202/ HPABH4B A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15. MIM:615722 ORDO:401777 BBSOAS optic atrophy-intellectual disability syndrome disease_ontology DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome DOID:0112226 A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15. url:https://pubmed.ncbi.nlm.nih.gov/24462372/ BBSOAS A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes. disease_ontology DOID:0112227 tubulinopathy DOID:0112227 A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes. url:https://pubmed.ncbi.nlm.nih.gov/24860126/ url:https://pubmed.ncbi.nlm.nih.gov/31386652/ url:https://www.ncbi.nlm.nih.gov/books/NBK350554/ A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3. MIM:618325 ORDO:572013 LIS9 posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome disease_ontology DOID:0112228 lissencephaly 9 with complex brainstem malformation DOID:0112228 A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3. url:https://pubmed.ncbi.nlm.nih.gov/24507697/ url:https://pubmed.ncbi.nlm.nih.gov/30471716/ LIS9 A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31. MIM:618873 LIS10 disease_ontology DOID:0112229 lissencephaly 10 DOID:0112229 A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31. url:https://pubmed.ncbi.nlm.nih.gov/32097630/ LIS10 A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1. MIM:615191 LIS5 disease_ontology DOID:0112230 lissencephaly 5 DOID:0112230 A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1. url:https://pubmed.ncbi.nlm.nih.gov/23472759/ url:https://pubmed.ncbi.nlm.nih.gov/25925986/ LIS5 A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1. MIM:616342 LIS7 disease_ontology DOID:0112231 lissencephaly 7 with cerebellar hypoplasia DOID:0112231 A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1. url:https://pubmed.ncbi.nlm.nih.gov/25560765/ LIS7 A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12. MESH:C566908 MIM:611603 ORDO:171680 LIS3 disease_ontology DOID:0112232 lissencephaly 3 DOID:0112232 A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12. url:https://pubmed.ncbi.nlm.nih.gov/17218254/ url:https://pubmed.ncbi.nlm.nih.gov/30744660/ LIS3 A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32. MIM:617255 LIS8 disease_ontology DOID:0112233 lissencephaly 8 DOID:0112233 A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32. url:https://pubmed.ncbi.nlm.nih.gov/27773428/ LIS8 A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly. ORDO:1083 disease_ontology DOID:0112234 microlissencephaly DOID:0112234 A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly. url:https://pubmed.ncbi.nlm.nih.gov/9588537/ A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11. MIM:614019 LIS4 lissencephaly 4 with microcephaly disease_ontology DOID:0112235 lissencephaly 4 DOID:0112235 A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11. url:https://pubmed.ncbi.nlm.nih.gov/21529751/ url:https://pubmed.ncbi.nlm.nih.gov/21529752/ LIS4 A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the KATNB1 gene on chromosome 16q21. MIM:616212 LIS6 disease_ontology DOID:0112236 lissencephaly 6 DOID:0112236 A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the KATNB1 gene on chromosome 16q21. url:https://pubmed.ncbi.nlm.nih.gov/25521378/ url:https://pubmed.ncbi.nlm.nih.gov/25521379/ LIS6 A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in heterozygous mutation in the PAFAH1B1 gene on chromosome 17p13.3. MIM:607432 ORDO:95232 LIS1 PAFAH1B1-related lissencephaly disease_ontology DOID:0112237 lissencephaly 1 DOID:0112237 A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in heterozygous mutation in the PAFAH1B1 gene on chromosome 17p13.3. url:https://pubmed.ncbi.nlm.nih.gov/11754098/ url:https://pubmed.ncbi.nlm.nih.gov/12668601/ LIS1 A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3. MIM:300215 ORDO:452 X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with ambiguous genitalia X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome XLAG XLAG (X-linked lissencephaly with abnormal genitalia) syndrome XLIS2 disease_ontology DOID:0112238 X-linked lissencephaly 2 DOID:0112238 A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3. url:https://pubmed.ncbi.nlm.nih.gov/11891829/ url:https://pubmed.ncbi.nlm.nih.gov/12379852/ XLAG XLIS2 A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23. MIM:300067 XLIS1 lissencephaly type 1 due to doublecortin gene mutation disease_ontology DOID:0112239 X-linked lissencephaly 1 DOID:0112239 A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23. url:https://pubmed.ncbi.nlm.nih.gov/9132485/ url:https://pubmed.ncbi.nlm.nih.gov/9489699/ XLIS1 A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3. MIM:617879 LCAEOD disease_ontology DOID:0112240 Leber congenital amaurosis with early-onset deafness DOID:0112240 A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3. url:https://pubmed.ncbi.nlm.nih.gov/29198720/ LCAEOD A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. GARD:3589 MIM:PS156610 ORDO:2505 CCSF Kunze-Riehm syndrome circumferential skin creases, Kunze type congenital circumferential skin folds disease_ontology DOID:0112241 multiple benign circumferential skin creases on limbs GARD:3589 MIM:PS156610 DOID:0112241 A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. url:https://pubmed.ncbi.nlm.nih.gov/26637975/ CCSF A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33. MIM:156610 CSCSC1 disease_ontology DOID:0112242 congenital symmetric circumferential skin creases 1 DOID:0112242 A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33. url:https://pubmed.ncbi.nlm.nih.gov/26637975/ CSCSC1 A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2. MIM:616734 CSCSC2 disease_ontology DOID:0112243 congenital symmetric circumferential skin creases 2 DOID:0112243 A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2. url:https://pubmed.ncbi.nlm.nih.gov/26637975/ CSCSC2 A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1. MESH:C567425 MIM:612079 ORDO:157954 ANE syndrome ANES alopecia-progressive neurological defect-endocrinopathy syndrome disease_ontology DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome DOID:0112244 A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1. url:https://pubmed.ncbi.nlm.nih.gov/18439547/ ANES A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3. MIM:607832 FSGS3 disease_ontology DOID:0112245 focal segmental glomerulosclerosis 3 DOID:0112245 A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3. url:https://pubmed.ncbi.nlm.nih.gov/12764198/ FSGS3 A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the SUGCT gene on chromosome 7p14.1. GARD:12469 MIM:231690 ORDO:35706 GA III GA3 glutaric aciduria 3 glutaric aciduria III glutaric aciduria type 3 glutaryl-CoA oxidase deficiency disease_ontology DOID:0112246 glutaric acidemia type 3 DOID:0112246 A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the SUGCT gene on chromosome 7p14.1. url:https://pubmed.ncbi.nlm.nih.gov/23893049/ GA III GA3 A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1. MIM:617360 CDK13-Related CHDFIDD CDK13-Related Disorder CHDFIDD disease_ontology DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder DOID:0112247 A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1. url:https://pubmed.ncbi.nlm.nih.gov/27479907/ url:https://pubmed.ncbi.nlm.nih.gov/29021403/ url:https://www.ncbi.nlm.nih.gov/books/NBK536784/ CHDFIDD A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22. GARD:5659 MIM:264300 ORDO:752 17-KSR deficiency 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroidreductase deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency male pseudohermaphroditism with gynecomastia neutral 17-beta-hydroxysteroid oxidoreductase deficiency disease_ontology DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22. url:https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency/ url:https://pubmed.ncbi.nlm.nih.gov/11158067/ url:https://pubmed.ncbi.nlm.nih.gov/8550739/ A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3. MIM:230740 ORDO:2067 growth delay-alopecia-pseudoanodontia-optic atrophy syndrome disease_ontology DOID:0112249 GAPO syndrome DOID:0112249 A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3. url:https://pubmed.ncbi.nlm.nih.gov/25045128/ url:https://pubmed.ncbi.nlm.nih.gov/6507471/ A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22. MIM:231005 ORDO:2072 GD3C Gaucher disease type 3C Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher-like disease cardiovascular Gaucher disease disease_ontology DOID:0112250 Gaucher's disease type IIIC DOID:0112250 A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22. url:https://pubmed.ncbi.nlm.nih.gov/10636167/ GD3C A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34. GARD:10297 MIM:231095 ORDO:1802 Ghosal hematodiaphyseal dysplasia Ghosal syndrome diaphyseal dysplasia-anemia syndrome disease_ontology DOID:0112251 Ghosal hematodiaphyseal syndrome DOID:0112251 A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34. url:https://medlineplus.gov/genetics/condition/ghosal-hematodiaphyseal-dysplasia/ url:https://pubmed.ncbi.nlm.nih.gov/18264100/ url:https://pubmed.ncbi.nlm.nih.gov/3385529/ A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22. MIM:231900 ORDO:289849 glutathione synthetase deficiency of erythrocytes glutathione synthetase deficiency without 5-oxoprolinuria disease_ontology DOID:0112252 congenital nonspherocytic hemolytic anemia 6 DOID:0112252 A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22. url:https://pubmed.ncbi.nlm.nih.gov/5476481/ url:https://pubmed.ncbi.nlm.nih.gov/659603/ url:https://pubmed.ncbi.nlm.nih.gov/8896573/ A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12. GARD:13587 MESH:C567115 MIM:233650 ORDO:157949 CCHIDG CID due to RAG 1/2 deficiency combined immunodeficiency due to RAG 1/2 deficiency combined immunodeficiency with granulomatosis combined immunodeficiency with skin granulomas disease_ontology DOID:0112253 combined cellular and humoral immune defects with granulomas DOID:0112253 A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12. url:https://pubmed.ncbi.nlm.nih.gov/18463379/ CCHIDG A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1. GARD:10083 MESH:C537257 MIM:235550 ORDO:79124 VODI hepatic veno-occlusive disease-immunodeficiency syndrome disease_ontology DOID:0112254 hepatic venoocclusive disease with immunodeficiency DOID:0112254 A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1. url:https://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency/ url:https://pubmed.ncbi.nlm.nih.gov/16648851/ VODI An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31. MIM:236270 ORDO:2169 HMAE functional methionine synthase deficiency type cblE homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type methylcobalamin deficiency, cblE type vitamin B12-responsive homocystinuria, cblE type disease_ontology DOID:0112255 homocystinuria-megaloblastic anemia cblE type DOID:0112255 An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31. url:https://pubmed.ncbi.nlm.nih.gov/3384945/ HMAE An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43. GARD:3577 MIM:250940 ORDO:2170 HMAG homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type homocystinuria-megaloblastic anemia, cblG complementation type methylcobalamin deficiency, cblG type disease_ontology DOID:0112256 homocystinuria-megaloblastic anemia cblG type DOID:0112256 An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43. url:https://pubmed.ncbi.nlm.nih.gov/3384945/ url:https://pubmed.ncbi.nlm.nih.gov/8968737/ HMAG An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2. GARD:10039 MESH:C536081 MIM:236800 ORDO:79155 kynureninase deficiency xanthurenic aciduria disease_ontology DOID:0112257 hydroxykynureninuria DOID:0112257 An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2. url:https://pubmed.ncbi.nlm.nih.gov/17334708/ A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31. GARD:7158 MIM:237310 ORDO:927 N-acetyl glutamate synthetase deficiency N-acetylglutamate synthetase deficiency NAG synthetase deficiency NAGS deficiency hyperammonemia due to N-acetylglutamate synthase deficiency disease_ontology DOID:0112258 N-acetylglutamate synthase deficiency DOID:0112258 A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31. url:https://pubmed.ncbi.nlm.nih.gov/12594532/ url:https://pubmed.ncbi.nlm.nih.gov/3139931/ A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3. GARD:3244 MEDDRA:10024406 MESH:C562567 ORDO:755 46,XY DSD due to LH resistance or LHB deficiency 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency disease_ontology DOID:0112259 Leydig cell hypoplasia DOID:0112259 A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3. url:https://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia/ url:https://pubmed.ncbi.nlm.nih.gov/7719343/ A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3. MIM:238320 ORDO:96265 46,XY DSD due to complete LH receptor inactivation 46,XY DSD due to complete LH resistance 46,XY DSD due to complete luteinizing hormone receptor inactivation 46,XY DSD due to complete luteinizing hormone resistance 46,XY disorder of sex development due to complete LH receptor inactivation 46,XY disorder of sex development due to complete LH resistance 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation 46,XY disorder of sex development due to complete luteinizing hormone resistance Leydig cell hypoplasia due to complete LH receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone resistance disease_ontology DOID:0112260 Leydig cell hypoplasia type I DOID:0112260 A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3. url:https://pubmed.ncbi.nlm.nih.gov/10714363/ url:https://pubmed.ncbi.nlm.nih.gov/11041448/ A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3. ORDO:96266 46,XY DSD due to partial LH receptor inactivation 46,XY DSD due to partial LH resistance 46,XY DSD due to partial luteinizing hormone resistance 46,XY disorder of sex development due to partial LH receptor inactivation 46,XY disorder of sex development due to partial LH resistance 46,XY disorder of sex development due to partial luteinizing hormone resistance Leydig cell hypoplasia due to partial LH receptor inactivation Leydig cell hypoplasia due to partial LH resistance Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation Leydig cell hypoplasia due to partial luteinizing hormone resistance disease_ontology DOID:0112261 Leydig cell hypoplasia type II DOID:0112261 A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3. url:https://pubmed.ncbi.nlm.nih.gov/11041448/ An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1. GARD:9915 MIM:240800 LIH leucine-induced hypoglycemia disease_ontology DOID:0112262 leucine-sensitive hypoglycemia of infancy DOID:0112262 An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1. url:https://pubmed.ncbi.nlm.nih.gov/15356046/ LIH An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2. MIM:240900 ORDO:293964 HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy disease_ontology DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy DOID:0112263 An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2. url:https://pubmed.ncbi.nlm.nih.gov/21979934/ HIHGHH A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1. GARD:5592 MESH:C536742 MIM:241080 ORDO:3464 diabetes-hypogonadism-deafness-intellectual disability syndrome diabetes-hypogonadism-hearing loss-intellectual disability syndrome hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia disease_ontology DOID:0112264 Woodhouse-Sakati syndrome DOID:0112264 A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1. url:https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome/ url:https://pubmed.ncbi.nlm.nih.gov/19026396/ url:https://pubmed.ncbi.nlm.nih.gov/6876115/ A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33. GARD:8424 MESH:C536285 MIM:242600 ORDO:42062 disease_ontology DOID:0112265 iminoglycinuria DOID:0112265 A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33. url:https://pubmed.ncbi.nlm.nih.gov/19033659/ A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1. MIM:619201 NPHS23 disease_ontology DOID:0112266 nephrotic syndrome type 23 DOID:0112266 A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1. url:https://pubmed.ncbi.nlm.nih.gov/31472902/ NPHS23 A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1. MIM:618594 NPHS21 disease_ontology DOID:0112267 nephrotic syndrome type 21 DOID:0112267 A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1. url:https://pubmed.ncbi.nlm.nih.gov/29058690/ NPHS21 A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3. MIM:619155 NPHS22 disease_ontology DOID:0112268 nephrotic syndrome type 22 DOID:0112268 A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3. url:https://pubmed.ncbi.nlm.nih.gov/33523862/ NPHS22 A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. MIM:619203 POF18 premature ovarian failure 18 disease_ontology DOID:0112269 primary ovarian insufficiency 18 DOID:0112269 A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. url:https://pubmed.ncbi.nlm.nih.gov/33508233/ POF18 A spermatogenic failure that is characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. MIM:619202 SPGF52 disease_ontology DOID:0112270 spermatogenic failure 52 DOID:0112270 A spermatogenic failure that is characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. url:https://pubmed.ncbi.nlm.nih.gov/33508233/ SPGF52 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP58 gene on chromosome 10q25.1. MIM:619144 SPGF98 disease_ontology DOID:0112271 spermatogenic failure 49 DOID:0112271 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP58 gene on chromosome 10q25.1. url:https://pubmed.ncbi.nlm.nih.gov/32791035/ SPGF98 A spermatogenic failure that is characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC2 gene on chromosome 7q36.1. MIM:619145 SPGF50 disease_ontology DOID:0112272 spermatogenic failure 50 DOID:0112272 A spermatogenic failure that is characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC2 gene on chromosome 7q36.1. url:https://pubmed.ncbi.nlm.nih.gov/30042186/ SPGF50 A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP91 gene on chromosome 3q13.33. MIM:619177 SPGF51 disease_ontology DOID:0112273 spermatogenic failure 51 DOID:0112273 A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP91 gene on chromosome 3q13.33. url:https://pubmed.ncbi.nlm.nih.gov/32161152/ SPGF51 A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1. MIM:301059 SPGFX3 disease_ontology DOID:0112274 X-linked spermatogenic failure 3 DOID:0112274 A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1. url:https://pubmed.ncbi.nlm.nih.gov/33472045/ SPGFX3 A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. MIM:618012 DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3 disease_ontology DOID:0112275 developmental and epileptic encephalopathy 93 DOID:0112275 A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. url:https://pubmed.ncbi.nlm.nih.gov/29668857/ DEE93 IECEE3 A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13. MIM:617493 NEDIM disease_ontology DOID:0112276 neurodevelopmental disorder with involuntary movements DOID:0112276 A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13. url:https://pubmed.ncbi.nlm.nih.gov/27068059/ url:https://pubmed.ncbi.nlm.nih.gov/28357411/ NEDIM A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13. MIM:619238 IMD79 disease_ontology DOID:0112277 immunodeficiency 79 DOID:0112277 A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13. url:https://pubmed.ncbi.nlm.nih.gov/31781092/ url:https://pubmed.ncbi.nlm.nih.gov/33471124/ IMD79 A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22. MIM:619245 POF19 POI19 premature ovarian failure 19 disease_ontology DOID:0112278 primary ovarian insufficiency 19 DOID:0112278 A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22. url:https://pubmed.ncbi.nlm.nih.gov/32845237/ POF19 POI19 A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2. MIM:619258 SPGF53 disease_ontology DOID:0112279 spermatogenic failure 53 DOID:0112279 A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2. url:https://pubmed.ncbi.nlm.nih.gov/33626338/ SPGF53 An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs. GARD:7687 SED disease_ontology DOID:0112280 spondyloepiphyseal dysplasia DOID:0112280 An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs. url:https://emedicine.medscape.com/article/1260836-overview url:https://pubmed.ncbi.nlm.nih.gov/16080123/ SED A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11. MIM:616583 ORDO:459051 SED Stanescu type SEDSTN disease_ontology DOID:0112281 spondyloepiphyseal dysplasia Stanescu type DOID:0112281 A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11. url:https://pubmed.ncbi.nlm.nih.gov/26183434/ url:https://pubmed.ncbi.nlm.nih.gov/6430256/ url:https://pubmed.ncbi.nlm.nih.gov/9592900/ SEDSTN A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1. MESH:C564252 MIM:608361 ORDO:93283 SNOMEDCT_US_2023_03_01:719203001 UMLS_CUI:C1842149 SEDK disease_ontology DOID:0112282 spondyloepiphyseal dysplasia Kimberley type DOID:0112282 A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1. url:https://pubmed.ncbi.nlm.nih.gov/16080123/ url:https://pubmed.ncbi.nlm.nih.gov/1978986/ SEDK A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1. MIM:618392 SED with elevated blood lysosomal enzymes SEDKF disease_ontology DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type DOID:0112283 A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1. url:https://pubmed.ncbi.nlm.nih.gov/30046013/ SEDKF A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth. ORDO:93284 disease_ontology DOID:0112284 spondyloepiphyseal dysplasia tarda DOID:0112284 A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth. url:https://medlineplus.gov/genetics/condition/x-linked-spondyloepiphyseal-dysplasia-tarda/ url:https://pubmed.ncbi.nlm.nih.gov/3213464/ A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. GARD:10624 MIM:184100 disease_ontology DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda DOID:0112285 A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/1353665/ url:https://pubmed.ncbi.nlm.nih.gov/3213464/ A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma. MESH:C566660 MIM:183850 disease_ontology DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy DOID:0112286 A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma. url:https://pubmed.ncbi.nlm.nih.gov/414988/ A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech. GARD:10629 MESH:C567128 MIM:611717 ORDO:163654 SNOMEDCT_US_2023_03_01:718765003 UMLS_CUI:C2673649 Fantasy Island syndrome SED-BDS SED-brachydactyly and distinctive speech Tattoo dysplasia spondyloepiphyseal dysplasia, Cantu type disease_ontology DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech DOID:0112287 A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech. url:https://pubmed.ncbi.nlm.nih.gov/17515304/ SED-BDS A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1. MIM:618618 SEDN disease_ontology DOID:0112288 spondyloepiphyseal dysplasia Nishimura type DOID:0112288 A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1. url:https://pubmed.ncbi.nlm.nih.gov/30804514/ SEDN A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay. MESH:C564003 MIM:600093 disease_ontology DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies DOID:0112289 A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay. url:https://pubmed.ncbi.nlm.nih.gov/8298734/ A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22. MIM:619260 SHILCA syndrome disease_ontology DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis DOID:0112290 A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22. url:https://pubmed.ncbi.nlm.nih.gov/32533184/ url:https://pubmed.ncbi.nlm.nih.gov/33668384/ A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities. MIM:609223 disease_ontology DOID:0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type DOID:0112291 A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities. url:https://pubmed.ncbi.nlm.nih.gov/14755466/ A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability. MESH:C564796 MIM:271620 ORDO:163665 UMLS_CUI:C1849053 disease_ontology DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability DOID:0112292 A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability. url:https://pubmed.ncbi.nlm.nih.gov/3612708/ A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease. MIM:271600 disease_ontology DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda DOID:0112293 A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease. url:https://pubmed.ncbi.nlm.nih.gov/19994087/ A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability. MIM:602611 ORDO:163649 disease_ontology DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability DOID:0112294 A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability. url:https://pubmed.ncbi.nlm.nih.gov/9557884/ An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. ORDO:254 disease_ontology DOID:0112295 spondylometaphyseal dysplasia DOID:0112295 An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. url:https://pubmed.ncbi.nlm.nih.gov/16752352/ A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. GARD:504 MESH:C535794 MIM:184253 ORDO:93316 SNOMEDCT_US_2023_03_01:719304005 UMLS_CUI:C1866688 spondylometaphyseal dysplasia with severe genu valgum spondylometaphyseal dysplasia, Schmidt type disease_ontology DOID:0112296 spondylometaphyseal dysplasia Algerian type DOID:0112296 A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/23653587/ url:https://pubmed.ncbi.nlm.nih.gov/3368247/ A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35. GARD:4991 MESH:C535793 MIM:184255 ORDO:93315 SNOMEDCT_US_2023_03_01:254078005 UMLS_CUI:C0432221 SMDCF spondylometaphyseal dysplasia Sutcliffe type disease_ontology DOID:0112297 spondylometaphyseal dysplasia corner fracture type DOID:0112297 A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35. url:https://pubmed.ncbi.nlm.nih.gov/2343127/ url:https://pubmed.ncbi.nlm.nih.gov/29100092/ SMDCF A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3. GARD:4993 MESH:C535798 MIM:250220 ORDO:93317 UMLS_CUI:C1855229 SMDS Sedaghatian chondrodysplasia congenital lethal metaphyseal chondrodysplasia disease_ontology DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type DOID:0112298 A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3. url:https://pubmed.ncbi.nlm.nih.gov/24706940/ SMDS A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3. GARD:8720 MESH:C535795 MIM:602271 ORDO:168549 SNOMEDCT_US_2023_03_01:771301002 UMLS_CUI:C1865695 SMD axial SMDAX disease_ontology DOID:0112299 axial spondylometaphyseal dysplasia DOID:0112299 A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3. url:https://pubmed.ncbi.nlm.nih.gov/21910225/ url:https://pubmed.ncbi.nlm.nih.gov/26167768/ SMDAX A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29. GARD:10647 MESH:C563825 MIM:608940 ORDO:85167 UMLS_CUI:C1837073 SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome disease_ontology DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy DOID:0112300 A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29. url:https://pubmed.ncbi.nlm.nih.gov/15326626/ url:https://pubmed.ncbi.nlm.nih.gov/24387990/ SMD-CRD SMDCRD A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities. GARD:458 MESH:C563803 MIM:609052 ORDO:168555 SNOMEDCT_US_2023_03_01:782912001 UMLS_CUI:C1836862 disease_ontology DOID:0112301 spondylometaphyseal dysplasia type A4 DOID:0112301 A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities. url:https://pubmed.ncbi.nlm.nih.gov/1870931/ url:https://pubmed.ncbi.nlm.nih.gov/9637426/ A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies. GARD:4992 MIM:611702 disease_ontology DOID:0112302 spondylometaphyseal dysplasia East African type DOID:0112302 A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies. url:https://pubmed.ncbi.nlm.nih.gov/12457408/ A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1. MIM:618961 SMDCD disease_ontology DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy DOID:0112303 A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1. url:https://pubmed.ncbi.nlm.nih.gov/29122926/ SMDCD A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3. MIM:613320 ORDO:401979 Megarbane-Dagher-Melike type chondrodysplasia SMDMDM disease_ontology DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type DOID:0112304 A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3. url:https://pubmed.ncbi.nlm.nih.gov/24786642/ SMDMDM A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia. GARD:8719 MESH:C535791 MIM:607543 ORDO:168552 UMLS_CUI:C1843706 SMD with bowed forearms and facial dysmorphism spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome disease_ontology DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism DOID:0112305 A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia. url:https://pubmed.ncbi.nlm.nih.gov/12503112/ An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3. GARD:10460 MIM:619290 ORDO:438274 GCGR-related hyperglucagonemia nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor disease_ontology DOID:0112306 Mahvash Disease MIM:619290 DOID:0112306 An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3. url:https://pubmed.ncbi.nlm.nih.gov/29702528/ An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2. GARD:158 ICD10CM:E72.59 MEDDRA:10059299 MESH:C537236 MIM:268900 ORDO:3129 SNOMEDCT_US_2023_03_01:64852002 UMLS_CUI:C0268563 SARCOS SARD deficiency SARDH deficiency demethylation defect of N-methylglycine sarcosine dehydrogenase complex deficiency disease_ontology DOID:0112307 sarcosinemia DOID:0112307 An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2. url:https://pubmed.ncbi.nlm.nih.gov/22825317/ url:https://pubmed.ncbi.nlm.nih.gov/5936868/ SARCOS An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. ICD10CM:E22.8 MESH:D011629 NCI:C113217 ORDO:759 SNOMEDCT_US_2023_03_01:237816004 UMLS_CUI:C0342543 CPP gonadotropin-dependant precocious puberty disease_ontology DOID:0112308 central precocious puberty DOID:0112308 An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. url:https://pubmed.ncbi.nlm.nih.gov/23738509/ url:https://pubmed.ncbi.nlm.nih.gov/30086862/ CPP A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2. MIM:615346 CPPB2 disease_ontology DOID:0112309 central precocious puberty 2 DOID:0112309 A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2. url:https://pubmed.ncbi.nlm.nih.gov/23738509/ CPPB2 A central precocious puberty that has_material_basis_in heterozygous mutation in the KISS1R gene on chromosome 19p13. MIM:176400 CPPB1 disease_ontology DOID:0112310 central precocious puberty 1 DOID:0112310 A central precocious puberty that has_material_basis_in heterozygous mutation in the KISS1R gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/18272894/ CPPB1 A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads. ORDO:529970 disease_ontology DOID:0112311 male infertility due to acephalic spermatozoa DOID:0112311 A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads. url:https://pubmed.ncbi.nlm.nih.gov/27640305/ A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects. GARD:12502 ORDO:171709 globozoospermia syndrome disease_ontology DOID:0112312 male infertility due to globozoospermia DOID:0112312 A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects. url:https://pubmed.ncbi.nlm.nih.gov/3338587/ A brain disease characterized by abnormalities in the small blood vessels in the brain. MIM:PS175780 disease_ontology DOID:0112313 brain small vessel disease DOID:0112313 A brain disease characterized by abnormalities in the small blood vessels in the brain. url:https://pubmed.ncbi.nlm.nih.gov/16598045/ A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34. MIM:614483 BSVD2 porencephaly 2 disease_ontology DOID:0112314 brain small vessel disease 2 DOID:0112314 A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34. url:https://pubmed.ncbi.nlm.nih.gov/22209246/ BSVD2 A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11. MIM:618360 BSVD3 disease_ontology DOID:0112315 brain small vessel disease 3 DOID:0112315 A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11. url:https://pubmed.ncbi.nlm.nih.gov/30412317/ BSVD3 A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3. MIM:250790 METAG methemoglobinemia due to deficiency of cytochrome b5 methemoglobinemia type IV pure isolated 17,20-lyase deficiency disease_ontology DOID:0112316 methemoglobinemia and ambiguous genitalia DOID:0112316 A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3. url:https://pubmed.ncbi.nlm.nih.gov/20080843/ url:https://pubmed.ncbi.nlm.nih.gov/22170710/ METAG A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. ORDO:3137 NAGA deficiency alpha-N-acetylgalactosaminidase deficiency disease_ontology DOID:0112317 Schindler disease DOID:0112317 A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. url:https://pubmed.ncbi.nlm.nih.gov/3149698/ A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. GARD:116 MIM:609241 ORDO:79279 NAGA deficiency type 1 alpha-N-acetylgalactosaminidase deficiency type 1 disease_ontology DOID:0112318 Schindler disease type 1 DOID:0112318 A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. url:https://pubmed.ncbi.nlm.nih.gov/2889023/ A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13. GARD:9161 MIM:609242 ORDO:79280 NAGA deficiency type 2 adult-onset alpha-N-acetylgalactosaminidase deficiency alpha-N-acetylgalactosaminidase deficiency type 2 disease_ontology DOID:0112319 Kanzaki disease DOID:0112319 A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13. url:https://pubmed.ncbi.nlm.nih.gov/2564952/ A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. GARD:3903 ORDO:79281 NAGA deficiency type 3 alpha-N-acetylgalactosaminidase deficiency type 3 disease_ontology DOID:0112320 Schindler disease type 3 DOID:0112320 A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. url:https://pubmed.ncbi.nlm.nih.gov/8071745/ A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35. MIM:615510 AAMR alacrima, achalasia, and mental retardation syndrome disease_ontology DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome DOID:0112321 A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35. url:https://pubmed.ncbi.nlm.nih.gov/24035193/ AAMR A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia. GARD:10704 MESH:C548069 ORDO:2254 Norman disease PCH1 pontocerebellar hypoplasia with anterior horn cell disease pontocerebellar hypoplasia with infantile spinal muscular atrophy disease_ontology DOID:0112322 pontocerebellar hypoplasia type 1 DOID:0112322 A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia. url:https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/ url:https://pubmed.ncbi.nlm.nih.gov/21749694/ url:https://pubmed.ncbi.nlm.nih.gov/29656927/ PCH1 A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27. MIM:618065 PCH1D disease_ontology DOID:0112323 pontocerebellar hypoplasia type 1D DOID:0112323 A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27. url:https://pubmed.ncbi.nlm.nih.gov/29727687/ url:https://pubmed.ncbi.nlm.nih.gov/30690203/ PCH1D A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2. MIM:617695 ORDO:611247 PCH11 disease_ontology DOID:0112324 pontocerebellar hypoplasia type 11 DOID:0112324 A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2. url:https://pubmed.ncbi.nlm.nih.gov/28823706/ PCH11 A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2. MIM:619301 PCH14 disease_ontology DOID:0112325 pontocerebellar hypoplasia type 14 DOID:0112325 A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2. url:https://pubmed.ncbi.nlm.nih.gov/33220177/ PCH14 A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21. MIM:619302 PCH15 disease_ontology DOID:0112326 pontocerebellar hypoplasia type 15 DOID:0112326 A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21. url:https://pubmed.ncbi.nlm.nih.gov/33220177/ PCH15 A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2. MIM:618266 ORDO:611256 COASY-related pontocerebellar hypoplasia PCH12 disease_ontology DOID:0112327 pontocerebellar hypoplasia type 12 DOID:0112327 A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2. url:https://pubmed.ncbi.nlm.nih.gov/30089828/ PCH12 A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy. GARD:10705 MESH:C548070 ORDO:2524 PCH2 disease_ontology DOID:0112328 pontocerebellar hypoplasia type 2 DOID:0112328 A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy. url:https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/ PCH2 A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3. MIM:617026 PCH2F disease_ontology DOID:0112329 pontocerebellar hypoplasia type 2F DOID:0112329 A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3. url:https://pubmed.ncbi.nlm.nih.gov/27392077/ PCH2F A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1. MIM:619303 PCH1E disease_ontology DOID:0112330 pontocerebellar hypoplasia type 1E DOID:0112330 A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1. url:https://pubmed.ncbi.nlm.nih.gov/26168012/ url:https://pubmed.ncbi.nlm.nih.gov/28653766/ PCH1E A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1. MIM:619304 PCH1F disease_ontology DOID:0112331 pontocerebellar hypoplasia type 1F DOID:0112331 A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1. url:https://pubmed.ncbi.nlm.nih.gov/33463720/ PCH1F A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1. MIM:618606 PCH13 disease_ontology DOID:0112332 pontocerebellar hypoplasia type 13 DOID:0112332 A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1. url:https://pubmed.ncbi.nlm.nih.gov/31207318/ PCH13 A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2. MIM:619527 PCH16 disease_ontology DOID:0112333 pontocerebellar hypoplasia type 16 DOID:0112333 A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2. url:https://pubmed.ncbi.nlm.nih.gov/33168985/ url:https://pubmed.ncbi.nlm.nih.gov/33257696/ PCH16 A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3. MIM:616081 PCH1C disease_ontology DOID:0112334 pontocerebellar hypoplasia type 1C DOID:0112334 A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3. url:https://pubmed.ncbi.nlm.nih.gov/24989451/ PCH1C A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP gene on chromosome 2q35. MIM:619379 SPGF54 disease_ontology DOID:0112335 spermatogenic failure 54 DOID:0112335 A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP gene on chromosome 2q35. url:https://pubmed.ncbi.nlm.nih.gov/32503832/ SPGF54 A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH10 gene on chromosome 12q24.31. MIM:619515 SPGF56 disease_ontology DOID:0112336 spermatogenic failure 56 DOID:0112336 A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH10 gene on chromosome 12q24.31. url:https://pubmed.ncbi.nlm.nih.gov/34237282/ SPGF56 A spermatogenic failure characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the SPAG17 gene on chromosome 1p12. MIM:619380 SPGF55 disease_ontology DOID:0112337 spermatogenic failure 55 DOID:0112337 A spermatogenic failure characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the SPAG17 gene on chromosome 1p12. url:https://pubmed.ncbi.nlm.nih.gov/28548327/ SPGF55 A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3. MIM:619528 SPGF57 disease_ontology DOID:0112338 spermatogenic failure 57 DOID:0112338 A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3. url:https://pubmed.ncbi.nlm.nih.gov/34347949/ SPGF57 A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3. MIM:615879 ORDO:404443 DNMT3A overgrowth syndrome DOS TBRS Tatton-Brown-Rahman overgrowth syndrome disease_ontology DOID:0112339 Tatton-Brown-Rahman syndrome DOID:0112339 A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3. url:https://pubmed.ncbi.nlm.nih.gov/24614070/ url:https://pubmed.ncbi.nlm.nih.gov/34315901/ DOS TBRS A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM53 gene on chromosome 1p34.1. MIM:619727 CTDI disease_ontology DOID:0112340 craniotubular dysplasia Ikegawa type DOID:0112340 A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM53 gene on chromosome 1p34.1. url:https://pubmed.ncbi.nlm.nih.gov/33824347/ CTDI A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3. MIM:618418 SPG80 spastic paraplegia 80 autosomal dominant disease_ontology DOID:0112341 hereditary spastic paraplegia 80 DOID:0112341 A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3. url:https://pubmed.ncbi.nlm.nih.gov/30929741/ SPG80 A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33. MIM:619735 SPG86 spastic paraplegia 86 autosomal recessive disease_ontology DOID:0112342 hereditary spastic paraplegia 86 DOID:0112342 A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33. url:https://pubmed.ncbi.nlm.nih.gov/34489854/ url:https://pubmed.ncbi.nlm.nih.gov/34866177/ SPG86 A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3. MIM:618770 SPG82 spastic paraplegia 82 autosomal recessive disease_ontology DOID:0112343 hereditary spastic paraplegia 82 DOID:0112343 A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3. url:https://pubmed.ncbi.nlm.nih.gov/31637422/ SPG82 A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. MIM:615491 ORDO:352654 SPG79B autosomal recessive spastic paraplegia 79B early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome spastic paraplegia 79 autosomal recessive disease_ontology DOID:0112344 hereditary spastic paraplegia 79B DOID:0112344 A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. url:https://pubmed.ncbi.nlm.nih.gov/28007905/ SPG79B A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21. MIM:619686 SPG85 spastic paraplegia 85 autosomal recessive disease_ontology DOID:0112345 hereditary spastic paraplegia 85 DOID:0112345 A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21. url:https://pubmed.ncbi.nlm.nih.gov/31636353/ SPG85 A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1. MIM:619027 SPG83 spastic paraplegia 83 autosomal recessive disease_ontology DOID:0112346 hereditary spastic paraplegia 83 DOID:0112346 A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1. url:https://pubmed.ncbi.nlm.nih.gov/32707086/ SPG83 A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21. MIM:619621 SPG84 spastic paraplegia 84 autosomal recessive disease_ontology DOID:0112347 hereditary spastic paraplegia 84 DOID:0112347 A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21. url:https://pubmed.ncbi.nlm.nih.gov/34415322/ SPG84 A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13. MIM:617225 ORDO:513436 SPG78 spastic paraplegia 78 autosomal recessive disease_ontology DOID:0112348 hereditary spastic paraplegia 78 DOID:0112348 A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13. url:https://pubmed.ncbi.nlm.nih.gov/28137957/ SPG78 A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3. MIM:618768 ORDO:506353 SPG81 autosomal recessive complex SPG due to Kennedy pathway dysfunction autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction spastic paraplegia 81 autosomal recessive disease_ontology DOID:0112349 hereditary spastic paraplegia 81 DOID:0112349 A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3. url:https://pubmed.ncbi.nlm.nih.gov/28052917/ url:https://pubmed.ncbi.nlm.nih.gov/29500230/ SPG81 A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete meiotic arrest at the primary spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the STAG3 gene on chromosome 7q22.1. MIM:619672 SPGF61 disease_ontology DOID:0112350 spermatogenic failure 61 DOID:0112350 A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete meiotic arrest at the primary spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the STAG3 gene on chromosome 7q22.1. url:https://pubmed.ncbi.nlm.nih.gov/31125047/ url:https://pubmed.ncbi.nlm.nih.gov/31682730/ SPGF61 A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete metaphase arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the RNF212 gene on chromosome 4p16.3. MIM:619673 SPGF62 disease_ontology DOID:0112351 spermatogenic failure 62 DOID:0112351 A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete metaphase arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the RNF212 gene on chromosome 4p16.3. url:https://pubmed.ncbi.nlm.nih.gov/31125047/ SPGF62 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the IFT74 gene on chromosome 9p21.2. MIM:619585 SPGF58 disease_ontology DOID:0112352 spermatogenic failure 58 DOID:0112352 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the IFT74 gene on chromosome 9p21.2. url:https://pubmed.ncbi.nlm.nih.gov/33689014/ SPGF58 A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FBXO43 gene on chromosome 8q22.2. MIM:619696 SPGF64 disease_ontology DOID:0112353 spermatogenic failure 64 DOID:0112353 A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FBXO43 gene on chromosome 8q22.2. url:https://pubmed.ncbi.nlm.nih.gov/30878252/ url:https://pubmed.ncbi.nlm.nih.gov/34595750/ SPGF64 A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced or absent progressive sperm motillity and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DHND1 gene on chromosome 11p15.4. MIM:619712 SPGF65 disease_ontology DOID:0112354 spermatogenic failure 65 DOID:0112354 A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced or absent progressive sperm motillity and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DHND1 gene on chromosome 11p15.4. url:https://pubmed.ncbi.nlm.nih.gov/34932939/ SPGF65 A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB1 gene on chromosome 16q22.1. MIM:619646 SPGF60 disease_ontology DOID:0112355 spermatogenic failure 60 DOID:0112355 A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB1 gene on chromosome 16q22.1. url:https://pubmed.ncbi.nlm.nih.gov/32741963/ SPGF60 A spermatogenic failure characterized by male infertility due to severe oligozoospermia with markedly reduced progressive sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the RPL10L gene on chromosome 14q21.2. MIM:619689 SPGF63 disease_ontology DOID:0112356 spermatogenic failure 63 DOID:0112356 A spermatogenic failure characterized by male infertility due to severe oligozoospermia with markedly reduced progressive sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the RPL10L gene on chromosome 14q21.2. url:https://pubmed.ncbi.nlm.nih.gov/32111475/ SPGF63 A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB2 gene on chromosome 15q21.1. MIM:619645 SPGF59 disease_ontology DOID:0112357 spermatogenic failure 59 DOID:0112357 A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB2 gene on chromosome 15q21.1. url:https://pubmed.ncbi.nlm.nih.gov/33211200/ SPGF59 A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCUBE3 gene on chromosome 6p21.31. MIM:619184 SSFSC2 disease_ontology DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 DOID:0112358 A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCUBE3 gene on chromosome 6p21.31. url:https://pubmed.ncbi.nlm.nih.gov/33308444/ SSFSC2 A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene. MIM:617641 CAKUTHED disease_ontology DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay DOID:0112359 A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene. url:https://pubmed.ncbi.nlm.nih.gov/28566479/ url:https://pubmed.ncbi.nlm.nih.gov/29036646/ CAKUTHED A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2. MIM:616566 SCDO6 autosomal recessive spondylocostal dysostosis 6 disease_ontology DOID:0112360 spondylocostal dysostosis 6 DOID:0112360 A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2. url:https://pubmed.ncbi.nlm.nih.gov/25343988/ SCDO6 A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3. MIM:609813 SCDO3 autosomal recessive spondylocostal dysostosis 3 disease_ontology DOID:0112361 spondylocostal dysostosis 3 DOID:0112361 A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3. url:https://pubmed.ncbi.nlm.nih.gov/16385447/ SCDO3 A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1. GARD:6798 MIM:608681 SCDO2 autosomal recessive spondylocostal dysostosis 2 disease_ontology DOID:0112362 spondylocostal dysostosis 2 DOID:0112362 A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1. url:https://pubmed.ncbi.nlm.nih.gov/15122512/ SCDO2 A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2. MIM:122600 SCDO5 disease_ontology DOID:0112363 spondylocostal dysostosis 5 DOID:0112363 A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2. url:https://pubmed.ncbi.nlm.nih.gov/23335591/ url:https://pubmed.ncbi.nlm.nih.gov/25564734/ SCDO5 A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1. MIM:613686 SCDO4 autosomal recessive spondylocostal dysostosis 4 disease_ontology DOID:0112364 spondylocostal dysostosis 4 DOID:0112364 A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1. url:https://pubmed.ncbi.nlm.nih.gov/18775957/ SCDO4 A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2. MIM:277300 SCDO1 autosomal recessive spondylocostal dysostosis 1 disease_ontology DOID:0112365 spondylocostal dysostosis 1 DOID:0112365 A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2. url:https://pubmed.ncbi.nlm.nih.gov/10742114/ SCDO1 A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. MIM:618362 CSS8 disease_ontology DOID:0112367 Coffin-Siris syndrome 8 DOID:0112367 A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. url:https://pubmed.ncbi.nlm.nih.gov/30580808/ CSS8 A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2. MIM:616938 CSS5 disease_ontology DOID:0112368 Coffin-Siris syndrome 5 DOID:0112368 A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2. url:https://pubmed.ncbi.nlm.nih.gov/22426308/ url:https://pubmed.ncbi.nlm.nih.gov/23906836/ CSS5 A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1. MIM:618027 CSS7 disease_ontology DOID:0112369 Coffin-Siris syndrome 7 DOID:0112369 A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1. url:https://pubmed.ncbi.nlm.nih.gov/29429572/ CSS7 A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33. MIM:619325 CSS12 disease_ontology DOID:0112370 Coffin-Siris syndrome 12 DOID:0112370 A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33. url:https://pubmed.ncbi.nlm.nih.gov/33232675/ CSS12 A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3. MIM:618506 CSS10 disease_ontology DOID:0112371 Coffin-Siris syndrome 10 DOID:0112371 A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3. url:https://pubmed.ncbi.nlm.nih.gov/30661772/ CSS10 A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12. MIM:618779 CSS11 disease_ontology DOID:0112372 Coffin-Siris syndrome 11 DOID:0112372 A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12. url:https://pubmed.ncbi.nlm.nih.gov/30879640/ CSS11 An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1. MIM:619832 AUNA3 disease_ontology DOID:0112373 autosomal dominant auditory neuropathy 3 DOID:0112373 An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1. url:https://pubmed.ncbi.nlm.nih.gov/34050020/ AUNA3 A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan. ICD10CM:G71.2 ORDO:370953 MDDG disease_ontology DOID:0112374 muscular dystrophy-dystroglycanopathy DOID:0112374 A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan. url:https://pubmed.ncbi.nlm.nih.gov/19299310/ MDDG A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies. MIM:PS613155 MDDGB disease_ontology DOID:0112375 muscular dystrophy-dystroglycanopathy type B DOID:0112375 A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies. url:https://pubmed.ncbi.nlm.nih.gov/15792865/ url:https://pubmed.ncbi.nlm.nih.gov/17878207/ MDDGB A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22. MIM:618992 MDDGB15 congenital muscular dystrophy DPM3-related disease_ontology DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 DOID:0112376 A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22. url:https://pubmed.ncbi.nlm.nih.gov/31469168/ MDDGB15 A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31. MIM:615351 MDDGB14 congenital muscular dystrophy GMPPB-related disease_ontology DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 DOID:0112377 A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31. url:https://pubmed.ncbi.nlm.nih.gov/23768512/ MDDGB14 A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1. MIM:613151 MDDGB3 congenital muscular dystrophy POMGNT1-related disease_ontology DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 DOID:0112378 A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1. url:https://pubmed.ncbi.nlm.nih.gov/19067344/ url:https://pubmed.ncbi.nlm.nih.gov/19299310/ MDDGB3 A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. MIM:613152 MDDGB4 congenital muscular dystrophy FKTN-related disease_ontology DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 DOID:0112379 A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. url:https://pubmed.ncbi.nlm.nih.gov/17878207/ MDDGB4 A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. MIM:613156 MDDGB2 congenital muscular dystrophy POMT2-related disease_ontology DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 DOID:0112380 A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. url:https://pubmed.ncbi.nlm.nih.gov/17634419/ MDDGB2 A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21. MIM:616094 ORDO:445110 LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related disease_ontology DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 DOID:0112381 A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21. url:https://pubmed.ncbi.nlm.nih.gov/24925318/ MDDGC12 A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. MIM:618135 LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related disease_ontology DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 DOID:0112382 A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. url:https://pubmed.ncbi.nlm.nih.gov/27066570/ LGMDR24 MDDGC2 A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. MIM:619297 AFF3-related mesomelic dysplasia KINS Steichen-Gersdorf type mesomelic dysplasia disease_ontology DOID:0112383 KINSSHIP syndrome DOID:0112383 A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. url:https://pubmed.ncbi.nlm.nih.gov/18616733/ url:https://pubmed.ncbi.nlm.nih.gov/33961779/ KINS A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system. disease_ontology DOID:070355 multisystem proteinopathy DOID:070355 A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system. url:https://n.neurology.org/content/85/8/658 An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites. DOID:10960 DOID:12509 DOID:5270 ICD10CM:A00-A09 ICD9CM:001-009.99 SNOMEDCT_US_2023_03_01:187266003 UMLS_CUI:C0178238 bacterial enteritis disease_ontology DOID:100 Updating outdated UMLS CUI. intestinal infectious disease DOID:100 An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites. url:http://en.wikipedia.org/wiki/Intestine disease_ontology DOID:10000 obsolete visual cortex disorder due to neoplasm true DOID:10000 An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem. DOID:11053 DOID:12112 DOID:12114 ICD10CM:H90.5 ICD9CM:389.1 MESH:D006319 NCI:C26739 SNOMEDCT_US_2023_03_01:60700002 UMLS_CUI:C0018784 High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss disease_ontology DOID:10003 sensorineural hearing loss MESH:D006319 DOID:10003 An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem. url:https://medlineplus.gov/ency/article/003291.htm A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production. DOID:10006 DOID:2941 acute bronchiolitis due to RSV capillary pneumonia viral bronchiolitis disease_ontology DOID:10007 obsolete respiratory syncytial virus bronchiolitis true DOID:10007 A respiratory syncytial virus infectious disease that results_in inflammation located_in bronchiole, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. Infection is characterized by inflammation, edema, and necrosis of the small airway epithelium with associated bronchospasm and increased mucous production. url:http://en.wikipedia.org/wiki/Bronchiolitis url:http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=2621418&blobtype=pdf Labour complications disease_ontology DOID:1001 obsolete labor complications true DOID:1001 A thyroid gland cancer that has_material_basis_in lymphocytes. NCI:C5265 SNOMEDCT_US_2023_03_01:278051002 UMLS_CUI:C1336753 disease_ontology DOID:10011 thyroid lymphoma DOID:10011 A thyroid gland cancer that has_material_basis_in lymphocytes. url:https://www.ncbi.nlm.nih.gov/books/NBK544282/ metastatic tumor to the Thyroid secondary malignant neoplasm of thyroid gland disease_ontology DOID:10012 obsolete metastatic malignant neoplasm to the thyroid true DOID:10012 disease_ontology DOID:10013 obsolete polyglandular activity in multiple endocrine adenomatosis true DOID:10013 disease_ontology DOID:10015 obsolete polyglandular dysfunction true DOID:10015 A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. ICD10CM:E31.23 ICD9CM:258.03 MESH:D018814 MIM:162300 NCI:C3227 ORDO:247709 SNOMEDCT_US_2023_03_01:61530001 UMLS_CUI:C0025269 MEN type IIB MEN2B Multiple endocrine neoplasia, type 3 Wagenmann-Froboese syndrome mucosal neuroma syndrome disease_ontology DOID:10016 OMIM mapping confirmed by DO. [SN]. multiple endocrine neoplasia type 2B DOID:10016 A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. url:http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2b_men_2b.html url:https://www.ncbi.nlm.nih.gov/pubmed/15965261 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract MEN2B A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas. GARD:3829 ICD10CM:E31.21 ICD9CM:258.01 MESH:D018761 MIM:131100 NCI:C3225 ORDO:652 SNOMEDCT_US_2023_03_01:30664006 UMLS_CUI:C0025267 MEN type I Wermer syndrome Wermer's syndrome disease_ontology DOID:10017 OMIM mapping confirmed by DO. [SN]. multiple endocrine neoplasia type 1 DOID:10017 A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas. url:http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_1 url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia url:http://www.nlm.nih.gov/medlineplus/ency/article/000398.htm url:https://www.ncbi.nlm.nih.gov/pubmed/25509899 disease_ontology DOID:10018 obsolete papilledema associated with increased intracranial pressure true DOID:10018 An endometrial disease that is characterized by inflammation of the endometrium. MESH:D004716 NCI:C26764 SNOMEDCT_US_2023_03_01:155975003 UMLS_CUI:C0014179 disease_ontology DOID:1002 endometritis DOID:1002 An endometrial disease that is characterized by inflammation of the endometrium. url:https://www.ncbi.nlm.nih.gov/pubmed/7511354 A duodenum cancer that is located_in the ampulla of Vater. ICD10CM:C24.1 ICD9CM:156.2 NCI:C3536 SNOMEDCT_US_2023_03_01:93668007 UMLS_CUI:C0153454 malignant tumour of ampulla of vater disease_ontology DOID:10020 ampulla of Vater cancer DOID:10020 A duodenum cancer that is located_in the ampulla of Vater. url:https://pubmed.ncbi.nlm.nih.gov/25485917/ A small intestine cancer that is located_in the beginning section of the small intestine. DOID:6072 ICD10CM:C17.0 ICD9CM:152.0 MESH:D004379 NCI:C4803 NCI:C9328 SNOMEDCT_US_2023_03_01:254570009 SNOMEDCT_US_2023_03_01:363403002 UMLS_CUI:C0153426 UMLS_CUI:C0541912 Duodenal cancer cancer of duodenum duodenal neoplasm disease_ontology DOID:10021 duodenum cancer DOID:10021 A small intestine cancer that is located_in the beginning section of the small intestine. url:http://en.wikipedia.org/wiki/Duodenal_cancer A duodenal benign neoplasm that is located_in the ampulla of Vater. NCI:C4443 SNOMEDCT_US_2023_03_01:126858004 UMLS_CUI:C0345916 tumor of the ampulla of Vater disease_ontology DOID:10022 ampulla of Vater benign neoplasm DOID:10022 A duodenal benign neoplasm that is located_in the ampulla of Vater. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620475/ A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. DOID:10025 ICD10CM:G43.1 ICD9CM:346.0 MESH:D020325 MIM:609179 MIM:609670 NCI:C117005 SNOMEDCT_US_2023_03_01:155047002 UMLS_CUI:C0154723 classic migraine disease_ontology DOID:10024 Xref MGI. migraine with aura DOID:10024 A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. url:http://en.wikipedia.org/wiki/Migraine url:http://www.mayoclinic.org/diseases-conditions/migraine-with-aura/basics/definition/con-20030404 A tertiary neurosyphilis that results in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has symptom intense, stabbing pain in the back and legs that recurs irregularly, has symptom gait ataxia, has symptom hyperesthesia, has symptom paresthesia, has symptom loss of bladder sensation leading to urine retention, has symptom erectile dysfunction. GARD:8730 ICD10CM:A52.11 ICD9CM:094.0 MESH:D013606 NCI:C35057 SNOMEDCT_US_2023_03_01:266134000 UMLS_CUI:C0039223 Posterior spinal sclerosis Tabes dorsalis - neurosyphilis disease_ontology DOID:10027 tabes dorsalis DOID:10027 A tertiary neurosyphilis that results in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has symptom intense, stabbing pain in the back and legs that recurs irregularly, has symptom gait ataxia, has symptom hyperesthesia, has symptom paresthesia, has symptom loss of bladder sensation leading to urine retention, has symptom erectile dysfunction. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh url:http://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm A female reproductive system disease that is characterized by an infection of the female reproductive organs. ICD10CM:N73.9 ICD9CM:614.9 MESH:D000292 NCI:C3889 SNOMEDCT_US_2023_03_01:266648001 UMLS_CUI:C0242172 PID disease_ontology DOID:1003 pelvic inflammatory disease DOID:1003 A female reproductive system disease that is characterized by an infection of the female reproductive organs. url:https://www.ncbi.nlm.nih.gov/pubmed/25992748 PID A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation. ICD10CM:J98.2 ICD9CM:518.1 NCI:C34571 SNOMEDCT_US_2023_03_01:11211003 UMLS_CUI:C1370824 disease_ontology DOID:10030 pulmonary interstitial emphysema DOID:10030 A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation. url:https://radiopaedia.org/articles/pulmonary-interstitial-emphysema?lang=us url:https://www.cedars-sinai.org/health-library/diseases-and-conditions---pediatrics/p/pulmonary-interstitial-emphysema.html A pulmonary emphysema that is characterized by overinflation of part of a lung in response to either removal by surgery of another part of the lung or deceased size of another part of the lung. ICD10CM:J98.3 ICD9CM:518.2 SNOMEDCT_US_2023_03_01:33325001 UMLS_CUI:C0155918 disease_ontology DOID:10031 compensatory emphysema DOID:10031 A pulmonary emphysema that is characterized by overinflation of part of a lung in response to either removal by surgery of another part of the lung or deceased size of another part of the lung. url:https://en.wikipedia.org/wiki/Pneumatosis url:https://www.google.com/books/edition/Airway_Stenting_in_Interventional_Radiol/oQ92DwAAQBAJ?hl=en&gbpv=1&dq=Compensatory+emphysema&pg=PA27 A lung disease that is characterized by increased lucency compared to the other lung on a chest radiograph or CT. MESH:D019568 UMLS_CUI:C0524799 disease_ontology DOID:10032 hyperlucent lung DOID:10032 A lung disease that is characterized by increased lucency compared to the other lung on a chest radiograph or CT. url:https://journal.chestnet.org/article/S0012-3692(19)31381-9/fulltext url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4587024/ An eye accommodation disease that is characterized by paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation. ICD10CM:H52.52 ICD9CM:367.51 SNOMEDCT_US_2023_03_01:68158006 UMLS_CUI:C0235238 Ciliary muscle paresis Cycloplegic paralysis of accommodation Paresis of accommodation disease_ontology DOID:10033 cycloplegia DOID:10033 An eye accommodation disease that is characterized by paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation. url:https://en.wikipedia.org/wiki/Cycloplegia An eye disease that is characterized by decreased ability to change the optical power of the eye to maintain a clear image. ICD10CM:H52.5 ICD9CM:367.5 SNOMEDCT_US_2023_03_01:155137002 UMLS_CUI:C0152198 disease_ontology DOID:10034 eye accommodation disease DOID:10034 An eye disease that is characterized by decreased ability to change the optical power of the eye to maintain a clear image. url:https://www.ncbi.nlm.nih.gov/pubmed/20582770 A tertiary neurosyphilis that results_in mild meningitis. ICD10CM:A52.2 ICD9CM:094.3 MESH:D009494 SNOMEDCT_US_2023_03_01:37754005 UMLS_CUI:C0153167 disease_ontology DOID:10035 asymptomatic neurosyphilis DOID:10035 A tertiary neurosyphilis that results_in mild meningitis. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh disease_ontology DOID:10038 obsolete old burn scar-related melanoma of skin true DOID:10038 A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities. DOID:10796 ICD10CM:A50.40 ICD10CM:A50.5 ICD9CM:090.4 ICD9CM:090.5 MESH:D009494 SNOMEDCT_US_2023_03_01:187350002 SNOMEDCT_US_2023_03_01:4243004 UMLS_CUI:C0153132 UMLS_CUI:C0153136 juvenile neurosyphilis disease_ontology DOID:10039 late congenital syphilis DOID:10039 A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities. url:http://en.wikipedia.org/wiki/Late_congenital_syphilis url:http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html A skin melanoma that arises from the upper or lower eyelid. NCI:C4358 SNOMEDCT_US_2023_03_01:231834005 UMLS_CUI:C0339116 disease_ontology DOID:10040 malignant eyelid melanoma DOID:10040 A skin melanoma that arises from the upper or lower eyelid. url:https://eyewiki.aao.org/Malignant_Melanoma_of_the_Eyelid A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members. GARD:9281 MESH:D004416 UMLS_CUI:C0205747 FAMM syndrome familial atypical multiple mole-melanoma disease_ontology DOID:10041 dysplastic nevus syndrome MESH:D004416 DOID:10041 A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/familial-atypical-multiple-mole-melanoma-syndrome regressing malignant melanoma of the skin disease_ontology DOID:10042 obsolete regressing skin melanoma true DOID:10042 A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. NCI:C4227 SNOMEDCT_US_2023_03_01:403922007 UMLS_CUI:C0334426 disease_ontology DOID:10044 balloon cell malignant melanoma DOID:10044 A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. url:https://pubmed.ncbi.nlm.nih.gov/27984232/ malignant melanoma in congenital melanocytic naevus skin melanoma in Giant Pigmented nevus disease_ontology DOID:10045 obsolete malignant giant pigmented nevus melanoma true DOID:10045 A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule. GARD:9961 NCI:C4225 SNOMEDCT_US_2023_03_01:2142002 UMLS_CUI:C0334424 nodular melanoma disease_ontology DOID:10047 nodular malignant melanoma DOID:10047 A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule. url:http://en.wikipedia.org/wiki/Nodular_melanoma url:http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/cutaneous-malignant-melanoma/ malignant melanoma in junctional nevus (morphologic abnormality) melanoma in Junctional nevus disease_ontology DOID:10048 obsolete malignant junctional nevus melanoma true DOID:10048 A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck. disease_ontology DOID:10049 obsolete desmoplastic melanoma true DOID:10049 A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck. url:http://www.cancer.gov/dictionary/?CdrID=321367 A uterine disease that is located_in the endometrium. NCI:C3504 SNOMEDCT_US_2023_03_01:418632009 UMLS_CUI:C0151622 disease_ontology DOID:1005 endometrial disease DOID:1005 A uterine disease that is located_in the endometrium. url:https://www.ncbi.nlm.nih.gov/pubmed/25100707 Blue nevus-Like melanoma disease_ontology DOID:10053 obsolete malignant skin blue nevus true DOID:10053 A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells. NCI:C4633 SNOMEDCT_US_2023_03_01:276751004 UMLS_CUI:C0349515 skin amelanotic malignant melanoma disease_ontology DOID:10054 skin amelanotic melanoma DOID:10054 A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells. url:https://dermnetnz.org/topics/amelanotic-melanoma/ disease_ontology DOID:10059 obsolete Congenital or acquired abnormality of vagina complicating pregnancy, childbirth, or the puerperium true DOID:10059 A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved. disease_ontology DOID:10066 obsolete syphilitic acoustic neuritis true DOID:10066 A tertiary neurosyphilis that is caused due to syphilis, which occurs suddenly and produces tinnitus and deafness when the cochlear branch is affected whereas vertigo, disturbances of equilibrium, spontaneous nystagmus and vomiting when the vestibular branch suffers. A combination of these symptoms are seen when both the branches are involved. url:http://archotol.ama-assn.org/cgi/content/summary/40/4/261 A laryngeal benign neoplasm that is located_in the subglottic area of the larynx. NCI:C4426 SNOMEDCT_US_2023_03_01:126696001 UMLS_CUI:C0345746 Subglottic tumor disease_ontology DOID:10069 subglottis benign neoplasm DOID:10069 A laryngeal benign neoplasm that is located_in the subglottic area of the larynx. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4427 A laryngeal benign neoplasm that derives_from smooth muscle cells. NCI:C6027 UMLS_CUI:C1334370 disease_ontology DOID:10070 larynx leiomyoma DOID:10070 A laryngeal benign neoplasm that derives_from smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/20737370 A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness. NCI:C7742 SNOMEDCT_US_2023_03_01:269637007 UMLS_CUI:C0240164 Laryngeal Squamous Cell Papilloma disease_ontology DOID:10071 larynx squamous papilloma DOID:10071 A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness. url:https://www.ncbi.nlm.nih.gov/books/NBK562327/ A bacterial meningitis that is characterized by inflammation of the tissues covering the brain and spinal cord. GARD:8731 ICD9CM:094.2 MESH:C536775 SNOMEDCT_US_2023_03_01:14968007 UMLS_CUI:C0153166 disease_ontology DOID:10073 syphilitic meningitis DOID:10073 A bacterial meningitis that is characterized by inflammation of the tissues covering the brain and spinal cord. url:https://medlineplus.gov/ency/article/000724.htm A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness. GARD:2787 ICD10CM:B71.0 ICD9CM:123.6 MESH:D006925 NCI:C84768 SNOMEDCT_US_2023_03_01:187153007 UMLS_CUI:C0020413 Hymenolepis infectious disease dwarf tapeworm infection disease_ontology DOID:10074 hymenolepiasis DOID:10074 A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness. url:http://en.wikipedia.org/wiki/Hymenolepiasis url:http://www.nlm.nih.gov/medlineplus/ency/article/001378.htm A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia. GARD:942 ICD10CM:B70.0 ICD9CM:123.4 MESH:D004169 NCI:C128391 SNOMEDCT_US_2023_03_01:187151009 UMLS_CUI:C0012561 Diphyllobothrium infection fish tapeworm disease_ontology DOID:10075 diphyllobothriasis MESH:D004169 DOID:10075 A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia. url:http://en.wikipedia.org/wiki/Diphyllobothrium url:http://www.dpd.cdc.gov/dpdx/HTML/Diphyllobothriasis.htm A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions. DOID:10078 DOID:14424 GARD:8194 ICD10CM:B69 ICD9CM:123.1 MESH:D003551 NCI:C34520 SNOMEDCT_US_2023_03_01:59051007 UMLS_CUI:C0010678 Pork tapeworm infection Tapeworm infection intestinal taenia solum Tapeworm infection pork intestinal taenia solium infection neurocysticercosis tenia solium infectious disease disease_ontology DOID:10079 cysticercosis DOID:10079 A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions. url:http://en.wikipedia.org/wiki/Cysticercosis A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected. ICD10CM:B70.1 ICD9CM:123.5 MESH:D013031 NCI:C35030 SNOMEDCT_US_2023_03_01:187152002 UMLS_CUI:C0037753 Infection by Sparganum disease_ontology DOID:10080 sparganosis MESH:D013031 DOID:10080 A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected. url:http://en.wikipedia.org/wiki/Sparganosis url:http://www.dpd.cdc.gov/dpdx/HTML/Sparganosis.htm An encephalitis that has_material_basis_in central neural system infection by Treponema pallidum. ICD9CM:094.81 SNOMEDCT_US_2023_03_01:26135000 UMLS_CUI:C0153168 disease_ontology DOID:10081 syphilitic encephalitis DOID:10081 An encephalitis that has_material_basis_in central neural system infection by Treponema pallidum. url:https://link.springer.com/article/10.1007/s10072-017-3109-0 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884904/ A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. NCI:C3876 SNOMEDCT_US_2023_03_01:276812001 UMLS_CUI:C0238440 leiomyoma of the stomach disease_ontology DOID:10087 gastric leiomyoma DOID:10087 A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. url:https://radiopaedia.org/articles/gastric-leiomyoma?lang=us A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull. ICD9CM:324.0 NCI:C34734 SNOMEDCT_US_2023_03_01:192738001 UMLS_CUI:C0021874 disease_ontology DOID:10095 intracranial abscess DOID:10095 A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull. url:https://www.nlm.nih.gov/medlineplus/ency/article/001416.htm disease_ontology DOID:10111 obsolete Congenital or acquired abnormality of vagina, with delivery true DOID:10111 A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances. GARD:7826 ICD10CM:B56 ICD9CM:086.5 KEGG:05143 MESH:D014353 NCI:C84541 ORDO:3385 SNOMEDCT_US_2023_03_01:27031003 UMLS_CUI:C0041228 African sleeping sickness African trypanosomiasis disease_ontology DOID:10112 sleeping sickness DOID:10112 A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances. url:http://en.wikipedia.org/wiki/African_trypanosomiasis url:http://www.nlm.nih.gov/medlineplus/ency/article/001362.htm url:http://www.who.int/mediacentre/factsheets/fs259/en/ A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans. ICD10CM:B57.2 ICD9CM:086 MEDDRA:10044707 MESH:D014352 SNOMEDCT_US_2023_03_01:78940002 UMLS_CUI:C0041227 disease_ontology DOID:10113 trypanosomiasis DOID:10113 A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans. url:http://en.wikipedia.org/wiki/Trypanosomiasis A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems. East African trypanosomiasis Rhodesian sleeping sickness Rhodesian trypanosomiasis trypanosoma rhodesiense infectious disease disease_ontology DOID:10114 obsolete Trypanosoma brucei rhodesiense infectious disease true DOID:10114 A sleeping sickness that involves infection caused by Trypanosoma brucei rhodesiense, which is carried by the tsetse fly. The symptoms include fever, severe headache, irritability, extreme fatigue, swollen lymph nodes, aching muscles and joints, skin rash, progressive confusion, personality changes, and other neurologic problems. url:http://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_ea_trypanosomiasis.htm A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems. Gambian Trypanosomiasis Gambian sleeping sickness West African trypanosomiasis disease_ontology DOID:10116 obsolete Trypanosoma brucei gambiense infectious disease true DOID:10116 A sleeping sickness that involves infection caused by Trypanosoma brucei gambiense, which is carried by the tsetse fly. The symptoms include fever, rash, swelling of the face and hands, headaches, fatigue, aching muscles and joints, itching skin, swollen lymph nodes, progressive confusion, personality changes, daytime sleepiness with nighttime sleep disturbances, and other neurologic problems. url:http://www.cdc.gov/ncidod/dpd/parasites/trypanosomiasis/factsht_wa_trypanosomiasis.htm ICD9CM:374.50 SNOMEDCT_US_2020_09_01:1112003 UMLS_CUI:C0155209 disease_ontology DOID:10120 category only, removed[LS] obsolete eyelid degenerative disease true DOID:10120 disease_ontology DOID:10121 obsolete degenerative disorder of eyelid and periocular area true DOID:10121 An eyelid disease that is characterized by dark eyelids. ICD10CM:H02.71 ICD9CM:374.52 MESH:C562400 MIM:145100 SNOMEDCT_US_2023_03_01:41115008 UMLS_CUI:C0155211 dark eyelids dyspigmentation of eyelid disease_ontology DOID:10122 OMIM mapping confirmed by DO. [SN]. hyperpigmentation of eyelid DOID:10122 An eyelid disease that is characterized by dark eyelids. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756872/ A skin disease that is characterized by discoloration of the skin. ICD9CM:709.09 UMLS_CUI:C0375489 disease_ontology DOID:10123 pigmentation disease DOID:10123 A skin disease that is characterized by discoloration of the skin. url:https://medlineplus.gov/skinpigmentationdisorders.html An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction. DOID:2284 ICD10CM:H18.9 ICD9CM:371.9 MESH:D003316 NCI:C26731 SNOMEDCT_US_2023_03_01:15250008 UMLS_CUI:C0010034 disease_ontology DOID:10124 corneal disease DOID:10124 An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26731 A keratoconus that is characterized by stromal edema due to leakage of aqueous humor through a tear in Descemet's membrane. ICD9CM:371.62 SNOMEDCT_US_2023_03_01:111523009 UMLS_CUI:C0339286 Keratoconus, acute hydrops disease_ontology DOID:10125 acute hydrops keratoconus DOID:10125 A keratoconus that is characterized by stromal edema due to leakage of aqueous humor through a tear in Descemet's membrane. url:https://en.wikipedia.org/wiki/Corneal_hydrops url:https://webeye.ophth.uiowa.edu/eyeforum/cases/241-acute-corneal-hydrops.htm A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. GARD:6824 ICD10CM:H18.6 ICD9CM:371.6 MESH:D007640 MIM:148300 MIM:608586 MIM:608932 MIM:609271 MIM:614622 MIM:614623 MIM:614628 MIM:614629 NCI:C26806 ORDO:156071 SNOMEDCT_US_2023_03_01:267733008 UMLS_CUI:C0022578 conical cornea disease_ontology DOID:10126 Xref MGI. keratoconus DOID:10126 A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. url:http://en.wikipedia.org/wiki/Keratoconus url:http://ghr.nlm.nih.gov/glossary=keratoconus A cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries. ICD9CM:434 SNOMEDCT_US_2023_03_01:20059004 UMLS_CUI:C0028790 disease_ontology DOID:10127 cerebral artery occlusion DOID:10127 A cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries. url:https://pubmed.ncbi.nlm.nih.gov/8584085/ A vein disease that is characterized by impaired flow of blood through the veins. ICD9CM:459.81 MESH:D014689 NCI:C127822 SNOMEDCT_US_2023_03_01:20696009 UMLS_CUI:C0042485 peripheral venous insufficiency disease_ontology DOID:10128 venous insufficiency DOID:10128 A vein disease that is characterized by impaired flow of blood through the veins. url:http://my.clevelandclinic.org/disorders/venous_insufficiency/hic_venous_insufficiency.aspx url:http://www.nlm.nih.gov/medlineplus/ency/article/000203.htm A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause. ICD10CM:F52.5 ICD9CM:306.51 NCI:C35113 SNOMEDCT_US_2023_03_01:71787009 UMLS_CUI:C0042266 Functional vaginismus Non-organic vaginismus Psychogenic Vaginismus disease_ontology DOID:10131 psychologic vaginismus DOID:10131 A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause. url:https://my.clevelandclinic.org/health/diseases/15723-vaginismus url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35113 A sexual disorder that is characterized as a sexual problem that is psychological, rather than physiological in origin. ICD9CM:302.79 UMLS_CUI:C0033951 disease_ontology DOID:10132 psychosexual disorder DOID:10132 A sexual disorder that is characterized as a sexual problem that is psychological, rather than physiological in origin. url:https://en.wikipedia.org/wiki/Psychosexual_disorder A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency. ICD10CM:E50.7 ICD9CM:375.15 MESH:D014985 NCI:C34503 SNOMEDCT_US_2023_03_01:193887002 UMLS_CUI:C0043349 Conjunctival xerosis disease_ontology DOID:10138 xerophthalmia DOID:10138 A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency. url:https://www.nature.com/articles/eye201417 url:https://www.ncbi.nlm.nih.gov/books/NBK431094/ ICD10CM:H11.10 ICD9CM:372.50 SNOMEDCT_US_2023_03_01:40787005 UMLS_CUI:C0155160 disease_ontology DOID:10139 conjunctival degeneration DOID:10139 A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface. ICD10CM:H04.12 MESH:D015352 NCI:C34553 SNOMEDCT_US_2023_03_01:193980001 UMLS_CUI:C0013238 Tear film insufficiency dry eye disease disease_ontology DOID:10140 dry eye syndrome MESH:D015352 DOID:10140 A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface. url:https://pubmed.ncbi.nlm.nih.gov/29498987/ disease_ontology DOID:10141 doid/symp duplicate - moved to Symptom Ontology obsolete asthenopia true DOID:10141 venereal disease of peritoneum due to Chlamydia trachomatis disease_ontology DOID:10142 obsolete Chlamydia trachomatis peritonitis true DOID:10142 metastatic tumor to the Thymus disease_ontology DOID:10144 obsolete secondary malignant neoplasm to the thymus true DOID:10144 metastatic tumor to the mediastinum secondary malignant neoplasm of mediastinum disease_ontology DOID:10145 obsolete metastases to mediastinum true DOID:10145 A thymus cancer that arises from the thymus. NCI:C6451 UMLS_CUI:C1336745 disease_ontology DOID:10146 thymus lymphoma DOID:10146 A thymus cancer that arises from the thymus. url:https://pubmed.ncbi.nlm.nih.gov/12063471/ A bone cancer that is manifested in the long bones of the lower limb. ICD10CM:C40.2 ICD9CM:170.7 SNOMEDCT_US_2023_03_01:187959005 UMLS_CUI:C0153517 malignant neoplasm of long bones of leg disease_ontology DOID:10149 long bones of lower limb cancer DOID:10149 A bone cancer that is manifested in the long bones of the lower limb. url:http://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm A malignant neoplasm that is manifested in the lower limb. malignant neoplasm of lower limb disease_ontology cancer of lower limb DOID:10150 obsolete lower limb cancer true DOID:10150 A malignant neoplasm that is manifested in the lower limb. url:http://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm A bone cancer that is located in the short bones of lower limbs. ICD10CM:C40.3 ICD9CM:170.8 SNOMEDCT_US_2023_03_01:94003005 UMLS_CUI:C0153518 malignant neoplasm of short bone of lower limb malignant neoplasm of short bones of leg disease_ontology DOID:10151 malignant neoplasm of short bones of lower limb DOID:10151 A bone cancer that is located in the short bones of lower limbs. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145567/ An ileum cancer originating from Meckel's diverticulum. ICD9CM:152.3 SNOMEDCT_US_2023_03_01:93890009 UMLS_CUI:C0153429 Meckel diverticulum cancer malignant neoplasm of Meckel's diverticulum disease_ontology DOID:10152 Meckel's diverticulum cancer DOID:10152 An ileum cancer originating from Meckel's diverticulum. url:https://www.ncbi.nlm.nih.gov/articles/PMC6582065/ A small intestine cancer that is located_in the ileum. ICD10CM:C17.2 ICD9CM:152.2 SNOMEDCT_US_2023_03_01:93832004 UMLS_CUI:C0153428 ileal neoplasm malignant neoplasm of ileum disease_ontology DOID:10153 ileum cancer DOID:10153 A small intestine cancer that is located_in the ileum. url:http://en.wikipedia.org/wiki/Ileum An intestinal cancer that is located_in the small intestine. GARD:9385 ICD10CM:C17 ICD9CM:152.9 NCI:C7523 SNOMEDCT_US_2023_03_01:363509000 UMLS_CUI:C0153425 disease_ontology DOID:10154 small intestine cancer DOID:10154 An intestinal cancer that is located_in the small intestine. url:http://en.wikipedia.org/wiki/Small_intestine A gastrointestinal system cancer that is located_in the intestine. ICD10CM:C26.0 ICD9CM:159.0 MESH:D007414 NCI:C4572 SNOMEDCT_US_2023_03_01:93838000 UMLS_CUI:C0346627 malignant intestinal tumors malignant neoplasm of intestine disease_ontology DOID:10155 intestinal cancer DOID:10155 A gastrointestinal system cancer that is located_in the intestine. url:http://en.wikipedia.org/wiki/Intestine A small intestine benign neoplasm that affects the wall of the ileum. MESH:D007078 NCI:C3130 SNOMEDCT_US_2023_03_01:254576003 UMLS_CUI:C0020876 Ileal tumor disease_ontology DOID:10156 NCI and MESH IDs are for both malignant and benign forms, removed from this record.[LS] benign ileal neoplasm DOID:10156 A small intestine benign neoplasm that affects the wall of the ileum. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3130 An ischemic bone disease that results_in necrosis located_in bone. DOID:10160 DOID:10161 DOID:10162 DOID:10163 DOID:10164 DOID:4128 DOID:8380 DOID:86 ICD10CM:M87 ICD10CM:M87.9 ICD9CM:732.3 ICD9CM:733.41 ICD9CM:733.42 ICD9CM:733.43 ICD9CM:733.44 MESH:D010020 NCI:C34404 NCI:C34841 NCI:C34880 NCI:C35226 NCI:C35517 SNOMEDCT_US_2023_03_01:156837008 SNOMEDCT_US_2023_03_01:17926002 SNOMEDCT_US_2023_03_01:240196003 SNOMEDCT_US_2023_03_01:29281007 SNOMEDCT_US_2023_03_01:43453000 SNOMEDCT_US_2023_03_01:62100001 SNOMEDCT_US_2023_03_01:83453001 UMLS_CUI:C0003977 UMLS_CUI:C0027543 UMLS_CUI:C0029445 UMLS_CUI:C0158442 UMLS_CUI:C0158449 UMLS_CUI:C0158450 UMLS_CUI:C0158451 UMLS_CUI:C0745048 Avascular necrosis of bone aseptic necrosis bone necrosis disease_ontology DOID:10159 osteonecrosis DOID:10159 An ischemic bone disease that results_in necrosis located_in bone. url:http://en.wikipedia.org/wiki/Avascular_necrosis url:http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm disease_ontology DOID:1016 obsolete primary tuberculosis true DOID:1016 DOID:6356 Tuberculous abscess of spinal cord tuberculoma of spinal cord disease_ontology DOID:10173 obsolete tuberculous myelitis true DOID:10173 ICD10CM:H04.81 ICD9CM:375.81 SNOMEDCT_US_2023_03_01:194001006 UMLS_CUI:C0155253 Granuloma of lacrimal passages disease_ontology DOID:10174 lacrimal passage granuloma DOID:10174 An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc. ICD10CM:H35.81 ICD10CM:H47.1 ICD10CM:H47.11 ICD9CM:362.83 ICD9CM:377.0 ICD9CM:377.01 MESH:D010211 NCI:C3307 SNOMEDCT_US_2023_03_01:3170006 SNOMEDCT_US_2023_03_01:423488006 SNOMEDCT_US_2023_03_01:6141006 UMLS_CUI:C0030353 UMLS_CUI:C0155288 UMLS_CUI:C0242420 UMLS_CUI:C0919308 papillitis disease_ontology DOID:10175 optic papillitis DOID:10175 An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc. url:https://en.wikipedia.org/wiki/Optic_papillitis An eye disease that is characterized by inflammation of the retina. ICD10CM:H30.9 MESH:D012173 SNOMEDCT_US_2023_03_01:410471004 UMLS_CUI:C0154874 Focal retinitis and retinochoroiditis, juxtapapillary Juxtapapillary focal retinitis AND retinochoroiditis Papilloretinitis disease_ontology DOID:10176 neuroretinitis DOID:10176 An eye disease that is characterized by inflammation of the retina. url:https://eyewiki.aao.org/Neuroretinitis SNOMEDCT_US_2023_03_01:65443008 UMLS_CUI:C0155593 disease_ontology DOID:10177 malignant hypertensive renal disease DOID:10177 disease_ontology DOID:10182 obsolete diabetic peripheral angiopathy true DOID:10182 A lipoma that is located within the lumen of a bronchus. NCI:C5063 UMLS_CUI:C0852937 disease_ontology DOID:10183 endobronchial lipoma DOID:10183 A lipoma that is located within the lumen of a bronchus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563533/ A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men. ICDO:8857/0 NCI:C4254 SNOMEDCT_US_2023_03_01:27313007 UMLS_CUI:C0334474 disease_ontology DOID:10184 spindle cell lipoma DOID:10184 A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men. url:http://en.wikipedia.org/wiki/Lipoma A lipoma located in the esophagus. NCI:C5701 UMLS_CUI:C1333455 Lipoma of esophagus disease_ontology DOID:10187 esophageal lipoma DOID:10187 A lipoma located in the esophagus. url:https://radiopaedia.org/articles/oesophageal-lipoma?lang=us url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043252/ A skin benign neoplasm that derives_from fat cells. DOID:10198 DOID:3943 ICD9CM:214.0 NCI:C4616 NCI:C5566 SNOMEDCT_US_2023_03_01:255187008 SNOMEDCT_US_2023_03_01:93159009 UMLS_CUI:C0153968 UMLS_CUI:C0347394 UMLS_CUI:C1333174 Cutaneous Lipoma Lipoma of skin cutaneous lipomatous tumor lipoma of face disease_ontology DOID:10188 skin lipoma DOID:10188 A skin benign neoplasm that derives_from fat cells. url:https://www.ncbi.nlm.nih.gov/pubmed/23600336 A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow. DOID:1018 DOID:1020 DOID:10281 DOID:10282 DOID:10692 DOID:10860 DOID:1164 DOID:11788 DOID:11959 DOID:12011 DOID:13673 DOID:13674 DOID:13675 DOID:13678 DOID:13684 DOID:13737 DOID:14003 DOID:14100 DOID:14166 DOID:2249 DOID:2250 DOID:5858 DOID:9456 GARD:7286 ICD9CM:730.1 SNOMEDCT_US_2023_03_01:203181001 UMLS_CUI:C0008707 disease_ontology DOID:1019 osteomyelitis DOID:1019 A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow. url:http://en.wikipedia.org/wiki/Osteomyelitis url:http://my.clevelandclinic.org/disorders/osteomyelitis/hic_osteomyelitis.aspx url:http://www.mayoclinic.com/health/osteomyelitis/DS00759 url:http://www.nlm.nih.gov/medlineplus/ency/article/000437.htm A lipoma located in the liver. NCI:C5750 UMLS_CUI:C1333970 Lipoma of the Liver hepatic lipoma disease_ontology DOID:10190 liver lipoma DOID:10190 A lipoma located in the liver. url:https://radiopaedia.org/articles/hepatic-lipoma-2?lang=us disease_ontology DOID:10191 obsolete autosomal deletion syndrome true DOID:10191 A lipoma that is characterized by floret giant cells with overlapping nuclei. ICDO:8854/0 MESH:D008067 NCI:C3703 SNOMEDCT_US_2023_03_01:189783001 UMLS_CUI:C0205823 disease_ontology DOID:10192 pleomorphic lipoma DOID:10192 A lipoma that is characterized by floret giant cells with overlapping nuclei. url:http://en.wikipedia.org/wiki/Pleomorphic_lipoma A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones. NCI:C27530 UMLS_CUI:C1333059 classic type lipoma disease_ontology DOID:10193 conventional lipoma DOID:10193 A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones. url:https://pubmed.ncbi.nlm.nih.gov/26857660/ A lipoma that is located in the kidney. NCI:C5101 UMLS_CUI:C1335744 Lipoma of kidney disease_ontology DOID:10194 kidney lipoma DOID:10194 A lipoma that is located in the kidney. url:https://www.mayoclinic.org/diseases-conditions/lipoma/symptoms-causes/syc-20374470 A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura. NCI:C6644 SNOMEDCT_US_2023_03_01:2460001000004103 UMLS_CUI:C1335434 Lipoma of Pleura disease_ontology DOID:10195 pleural lipoma DOID:10195 A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura. url:https://www.ncbi.nlm.nih.gov/pubmed/29222220 A breast benign neoplasm that is composed of lipocytes. NCI:C4647 SNOMEDCT_US_2023_03_01:276891009 UMLS_CUI:C0349565 Lipoma of breast disease_ontology DOID:10199 breast lipoma DOID:10199 A breast benign neoplasm that is composed of lipocytes. url:https://en.wikipedia.org/wiki/Benign_tumor A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall. NCI:C6719 SNOMEDCT_US_2023_03_01:448270009 UMLS_CUI:C1332932 Lipoma of the Chest Wall disease_ontology DOID:10200 chest wall lipoma DOID:10200 A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall. url:https://www.ncbi.nlm.nih.gov/pubmed/23919840 A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells. NCI:C5835 UMLS_CUI:C1333747 Lipoma of the gallbladder disease_ontology DOID:10201 gallbladder lipoma DOID:10201 A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells. url:https://link.springer.com/referenceworkentry/10.1007%2F978-3-319-26587-2_156-1 Lipoma of intrathoracic organs (disorder) disease_ontology DOID:10202 obsolete lipoma of intrathoracic organ true DOID:10202 An auditory system benign neoplasm that is located in the external ear. NCI:C4618 SNOMEDCT_US_2023_03_01:188988008 UMLS_CUI:C0347423 Lipoma of external auditory meatus Lipoma of the External ear external auditory meatus lipoma disease_ontology DOID:10203 external ear lipoma DOID:10203 An auditory system benign neoplasm that is located in the external ear. url:https://clinmedjournals.org/articles/ijdrt/journal-of-dermatology-research-and-therapy-ijdrt-1-010.pdf Lipoma of intra-abdominal organs (disorder) disease_ontology DOID:10204 obsolete lipoma of intra-abdominal organ true DOID:10204 An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue. NCI:C35419 SNOMEDCT_US_2023_03_01:188993006 UMLS_CUI:C0347429 Lipoma of axilla disease_ontology DOID:10205 axillary lipoma DOID:10205 An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue. url:http://en.wikipedia.org/wiki/Axilla url:http://en.wikipedia.org/wiki/Lipoma A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells. ICD9CM:214.4 NCI:C3606 SNOMEDCT_US_2023_03_01:93162007 UMLS_CUI:C0153972 Spermatic Cord Lipoma disease_ontology DOID:10206 lipoma of spermatic cord DOID:10206 A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1422475/ A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region. NCI:C6384 UMLS_CUI:C1335348 disease_ontology DOID:10207 paratesticular lipoma DOID:10207 A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region. url:https://pubmed.ncbi.nlm.nih.gov/11103506/ A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women. ICDO:8862/0 NCI:C6503 SNOMEDCT_US_2023_03_01:404065000 UMLS_CUI:C1266131 disease_ontology DOID:10208 chondroid lipoma DOID:10208 A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women. url:http://en.wikipedia.org/wiki/Lipoma A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells. NCI:C5854 UMLS_CUI:C1333509 Lipoma of the extrahepatic bile duct disease_ontology DOID:10209 extrahepatic bile duct lipoma DOID:10209 A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/extrahepatic-bile-duct-cancer DOID:10212 calculus of gallbladder and bile duct without cholecystitis, with obstruction disease_ontology DOID:10210 obsolete calculus of gallbladder and bile duct without cholecystitis true DOID:10210 EFO:0004799 ICD9CM:574.5 SNOMEDCT_US_2023_03_01:197397004 UMLS_CUI:C0006739 disease_ontology DOID:10211 cholelithiasis DOID:10211 A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic. DOID:1021 DOID:10490 DOID:1813 DOID:3573 GARD:7397 ICD10CM:A67.0 ICD10CM:A67.1 ICD10CM:A67.2 ICD10CM:A67.3 ICD10CM:A67.9 ICD9CM:103 ICD9CM:103.0 ICD9CM:103.1 ICD9CM:103.2 ICD9CM:103.3 MESH:D010874 NCI:C85011 SNOMEDCT_US_2023_03_01:22064009 SNOMEDCT_US_2023_03_01:240685007 SNOMEDCT_US_2023_03_01:4669001 SNOMEDCT_US_2023_03_01:68202005 SNOMEDCT_US_2023_03_01:73594001 UMLS_CUI:C0031946 UMLS_CUI:C0153241 UMLS_CUI:C0153242 UMLS_CUI:C0153243 UMLS_CUI:C0153244 disease_ontology DOID:1022 pinta disease DOID:1022 A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic. url:https://www.ncbi.nlm.nih.gov/pubmed/26304920 DOID:10221 Failed mechanical induction of labor, antepartum disease_ontology DOID:10220 obsolete failed induction true DOID:10220 disease_ontology DOID:10222 obsolete polymyositis true DOID:10222 A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction. GARD:6263 ICD10CM:M33 ICD9CM:710.3 MESH:D003882 NCI:C26744 SNOMEDCT_US_2023_03_01:38826005 UMLS_CUI:C0011633 Polymyositis with skin involvement dermatopolymyositis disease_ontology Amyopathic dermatomyositis DOID:10223 MESH:C538250 added from NeuroDevNet [WAK]. dermatomyositis DOID:10223 A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction. url:http://en.wikipedia.org/wiki/Dermatomyositis url:http://www.myositis.org/learn-about-myositis/types-of-myositis/dermatomyositis Amyopathic dermatomyositis MESH:C538250 disease_ontology DOID:10226 obsolete single episode manic disorder true DOID:10226 disease_ontology DOID:10229 obsolete partial epilepsy, with impairment of consciousness, with intractable epilepsy true DOID:10229 A leprosy that results in small numerous red irregularly shaped plaques. ICD10CM:A30.3 ICD9CM:030.3 MESH:D015439 SNOMEDCT_US_2023_03_01:50521002 UMLS_CUI:C0023346 Borderline or dimorphous leprosy Midborderline leprosy disease_ontology DOID:1023 borderline leprosy DOID:1023 A leprosy that results in small numerous red irregularly shaped plaques. url:http://en.wikipedia.org/wiki/Borderline_leprosy An atherosclerosis of the aorta. ICD10CM:I70.0 ICD9CM:440.0 SNOMEDCT_US_2023_03_01:81817003 UMLS_CUI:C0155733 Atherosclerosis of aorta disease_ontology DOID:10230 aortic atherosclerosis DOID:10230 An atherosclerosis of the aorta. url:https://www.ncbi.nlm.nih.gov/books/NBK218744/ An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. Histoplasma capsulatum with pericarditis (disorder) disease_ontology DOID:10233 obsolete Histoplasma capsulatum pericarditis true DOID:10233 An American histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. url:https://www.ncbi.nlm.nih.gov/pubmed/16924162 ICD9CM:115.93 SNOMEDCT_US_2023_03_01:187059008 UMLS_CUI:C0153279 Histoplasmosis with pericarditis disease_ontology DOID:10234 histoplasmosis pericarditis DOID:10234 A mechanical strabismus that is characterized by impairment of eye movements. GARD:5963 ICD10CM:H50.61 ICD9CM:378.61 MESH:D015835 SNOMEDCT_US_2023_03_01:35929003 UMLS_CUI:C0155339 disease_ontology DOID:10235 Brown's tendon sheath syndrome DOID:10235 A mechanical strabismus that is characterized by impairment of eye movements. url:https://rarediseases.org/rare-diseases/brown-syndrome/ A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger. ICD10CM:F65.2 ICD9CM:302.4 MESH:D005084 NCI:C94352 SNOMEDCT_US_2023_03_01:192514003 UMLS_CUI:C0015269 disease_ontology DOID:10236 exhibitionism DOID:10236 A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger. url:https://www.britannica.com/topic/exhibitionism A malignant neoplasm that is manifested in the pelvic region. neoplasm of pelvis (disorder) pelvis neoplasm disease_ontology DOID:10237 obsolete pelvic cancer true DOID:10237 A malignant neoplasm that is manifested in the pelvic region. url:http://www.wrongdiagnosis.com/p/pelvic_cancer/intro.htm malignant neoplasm of rectum, rectosigmoid junction and anus (disorder) malignant neoplasm of rectum, rectosigmoid junction and anus NOS (disorder) malignant neoplasm of rectum, rectosigmoid junction, and anus disease_ontology DOID:10238 obsolete malignant neoplasm of rectum, rectosigmoid junction and anus true DOID:10238 Ca pelvic bones/sacrum/coccyx Ca pelvic bones/sacrum/coccyx (disorder) malignant neoplasm of pelvic bones, sacrum and coccyx (disorder) malignant neoplasm of pelvic bones, sacrum, and coccyx malignant neoplasm of pelvis, sacrum or coccyx NOS (disorder) disease_ontology DOID:10239 obsolete malignant neoplasm of pelvic bones, sacrum and coccyx true DOID:10239 A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage. EFO:0001054 GARD:6886 ICD10CM:A30 ICD9CM:030 MESH:D007918 MIM:607572 MIM:609888 MIM:613407 NCI:C84824 ORDO:548 SNOMEDCT_US_2023_03_01:154298007 UMLS_CUI:C0023343 disease_ontology DOID:1024 Xref MGI. leprosy DOID:1024 A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage. url:http://en.wikipedia.org/wiki/Leprosy malignant neoplasm of pelvis NOS (disorder) malignant neoplasm of pelvis, NOS malignant tumor of pelvis (disorder) disease_ontology DOID:10240 obsolete malignant neoplasm of pelvis true DOID:10240 A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains. DOID:12242 DOID:12243 GARD:7756 ICD10CM:D56 ICD9CM:282.4 MESH:D013789 NCI:C35069 SNOMEDCT_US_2023_03_01:191192008 UMLS_CUI:C0039730 Sickle-cell thalassemia with crisis Sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis disease_ontology DOID:10241 OMIM mapping confirmed by DO. [LS]. thalassemia DOID:10241 A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains. url:https://www.genome.gov/Genetic-Disorders/Thalassemia url:https://www.ncbi.nlm.nih.gov/pubmed/11283697 A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash. DOID:0050023 GARD:2092 ICD10CM:A77.4 ICD9CM:082.4 MESH:D016873 SNOMEDCT_US_2023_03_01:77361002 UMLS_CUI:C0085399 human ehrlichiosis disease_ontology DOID:10242 ehrlichiosis MESH:D016873 DOID:10242 A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash. url:http://en.wikipedia.org/wiki/Ehrlichiosis disease_ontology DOID:10245 obsolete delayed separation of umbilical cord true DOID:10245 A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs. ICD9CM:511.8 UMLS_CUI:C0029799 disease_ontology DOID:10247 pleurisy DOID:10247 A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs. url:http://en.wikipedia.org/wiki/Pleurisy url:http://www.merck.com/mmhe/sec04/ch052/ch052b.html#sb052_2 A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center. ICD10CM:A30.1 ICD9CM:030.1 MESH:D015441 SNOMEDCT_US_2023_03_01:70143003 UMLS_CUI:C0023351 Smooth leprosy type T leprosy disease_ontology DOID:1025 tuberculoid leprosy DOID:1025 A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center. url:http://en.wikipedia.org/wiki/Tuberculoid_leprosy A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in Louping ill virus (Orthoflavivirus loupingi), which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs. ICD10CM:A84.89 ICD9CM:063.1 MESH:D008146 SNOMEDCT_US_2023_03_01:59350003 UMLS_CUI:C0024025 disease_ontology DOID:10250 louping ill DOID:10250 A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in Louping ill virus (Orthoflavivirus loupingi), which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs. url:https://pmc.ncbi.nlm.nih.gov/articles/PMC4811648/ url:https://pubmed.ncbi.nlm.nih.gov/1753132/ url:https://www.ncbi.nlm.nih.gov/pubmed/15606630 ICD10CM:K82.4 ICD9CM:575.6 SNOMEDCT_US_2023_03_01:61565001 UMLS_CUI:C0152456 Cholesterolosis of gallbladder disease_ontology DOID:10254 strawberry gallbladder DOID:10254 Conjunctival degenerations and deposits (disorder) disease_ontology DOID:10255 obsolete conjunctival degenerations and deposits true DOID:10255 vitamin A deficiency with conjunctival xerosis (disorder) disease_ontology DOID:10256 obsolete vitamin A deficiency with conjunctival xerosis true DOID:10256 disease_ontology DOID:10257 obsolete vitamin A deficiency true DOID:10257 An auditory system disease that is characterized by the discharge or drainage of fluid from the ear. ICD10CM:H92.1 ICD9CM:388.6 NCI:C35199 SNOMEDCT_US_2023_03_01:300132001 UMLS_CUI:C0155540 discharging ear disease_ontology DOID:10261 otorrhea DOID:10261 An auditory system disease that is characterized by the discharge or drainage of fluid from the ear. url:https://medlineplus.gov/ency/article/003042.htm A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine. Mumps hepatitis (disorder) disease_ontology DOID:10263 obsolete Mumps virus hepatitis true DOID:10263 A Mumps virus infectious disease that results_in inflammation located_in liver, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection causes swelling of parotid gland and has_symptom fever, has_symptom nausea, has_symptom anorexia, and has_symptom dark urine. url:http://www.ncbi.nlm.nih.gov/pubmed/13361586 A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus (Orthorubulavirus parotitidis), which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face. GARD:7116 ICD10CM:B26 ICD9CM:072 MESH:D009107 NCI:C29888 SNOMEDCT_US_2023_03_01:154352008 UMLS_CUI:C0026780 disease_ontology DOID:10264 mumps DOID:10264 A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus (Orthorubulavirus parotitidis), which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face. url:https://medlineplus.gov/ency/article/001557.htm url:https://www.cdc.gov/mumps/about/ url:https://www.ncbi.nlm.nih.gov/books/NBK534785/ disease_ontology DOID:10265 obsolete hairy cell leukemia of spleen true DOID:10265 ICD9CM:410.7 UMLS_CUI:C0155655 disease_ontology DOID:10266 subendocardial infarction acute myocardial infarction DOID:10266 ICD10CM:I44.60 ICD9CM:426.2 SNOMEDCT_US_2023_03_01:266245009 UMLS_CUI:C0155702 Left bundle branch block disease_ontology DOID:10272 left bundle branch hemiblock DOID:10272 A cardiovascular system disease that involves the heart's electrical conduction system. ICD9CM:426.6 SNOMEDCT_US_2023_03_01:195053008 UMLS_CUI:C0029630 heart rhythm disease disease_ontology DOID:10273 heart conduction disease DOID:10273 A cardiovascular system disease that involves the heart's electrical conduction system. url:http://en.wikipedia.org/wiki/Conduction_system_of_the_heart disease_ontology DOID:10274 obsolete schizo-affective type schizophrenia in remission true DOID:10274 A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess. intestinal infection due to Pseudomonas (disorder) intestinal infectious disease due to pseudomonas disease_ontology DOID:10277 obsolete Pseudomonas intestinal infectious disease true DOID:10277 A Pseudomonas infectious disease that involves infection of the intestine caused by the bacterial genus Pseudomonas, which can result in diarrhea, necrotizing enterocolitis, typhlitis and rectal abscess. url:http://emedicine.medscape.com/article/970904-overview Vasa previa complicating labor and delivery, unspecified as to episode of care disease_ontology DOID:10278 obsolete Vasa previa complicating labor and delivery true DOID:10278 Vasa praevia Vasa previa (disorder) Vasa previa NOS (disorder) Vasa previa complicating labor and delivery, antepartum Vasa previa unspecified (disorder) disease_ontology DOID:10279 obsolete Vasa previa true DOID:10279 disease_ontology DOID:10280 obsolete Vasa previa complicating labor and delivery, delivered true DOID:10280 A male reproductive organ cancer that is located_in the prostate. DOID:514 ICD10CM:C61 ICD9CM:185 KEGG:05215 MESH:D011471 MIM:176807 MIM:300147 MIM:300704 MIM:601518 MIM:602759 MIM:608656 MIM:608658 MIM:609299 MIM:609558 MIM:610321 MIM:610997 MIM:611100 MIM:611868 MIM:611928 MIM:611955 MIM:611958 MIM:611959 NCI:C3343 NCI:C7378 ORDO:1331 SNOMEDCT_US_2023_03_01:126906006 SNOMEDCT_US_2023_03_01:93974005 UMLS_CUI:C0033578 UMLS_CUI:C0376358 NGP - new growth of prostate hereditary prostate cancer malignant tumor of the prostate prostate cancer, familial prostate neoplasm prostatic cancer prostatic neoplasm tumor of the prostate disease_ontology DOID:10283 Xref MGI. OMIM mapping confirmed by DO. [SN]. prostate cancer DOID:10283 A male reproductive organ cancer that is located_in the prostate. url:http://www.cancer.gov/dictionary?CdrID=445079 url:https://www.genome.gov/Genetic-Disorders/Prostate-Cancer A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. EFO:0001663 KEGG:05215 NCI:C4863 SNOMEDCT_US_2023_03_01:254900004 UMLS_CUI:C0600139 cancer of prostate carcinoma of prostate disease_ontology DOID:10286 prostate carcinoma DOID:10286 A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A squamous cell carcinoma that is located_in the prostate. NCI:C5536 SNOMEDCT_US_2023_03_01:399590005 UMLS_CUI:C1302530 disease_ontology DOID:10287 prostate squamous cell carcinoma DOID:10287 A squamous cell carcinoma that is located_in the prostate. url:https://www.ncbi.nlm.nih.gov/pubmed/23877521 metastatic neoplasm to the prostate secondary malignant neoplasm of prostate (disorder) disease_ontology DOID:10288 obsolete metastasis to prostate true DOID:10288 A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland. MESH:C549759 NCI:C5531 UMLS_CUI:C1334615 malignant Phyllodes neoplasm of the prostate disease_ontology DOID:10289 prostate malignant phyllodes tumor DOID:10289 A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland. url:https://www.hindawi.com/journals/jo/2009/241270/ A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells. GARD:6422 ICD10CM:G72.3 MESH:D010245 NCI:C84709 SNOMEDCT_US_2023_03_01:193241004 UMLS_CUI:C0030443 disease_ontology DOID:1029 familial periodic paralysis DOID:1029 A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells. url:https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/periodic-paralysis.html url:https://www.ninds.nih.gov/health-information/disorders/familial-periodic-paralyses A prostate cancer that affects lymphocytes and arises from the prostate gland. NCI:C5533 UMLS_CUI:C1335512 lymphoma of prostate disease_ontology DOID:10290 prostate lymphoma DOID:10290 A prostate cancer that affects lymphocytes and arises from the prostate gland. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6614933/ An esotropia that is characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance. ICD10CM:H50.01 ICD9CM:378.01 MESH:D004948 SNOMEDCT_US_2023_03_01:194075001 UMLS_CUI:C0152204 disease_ontology DOID:10293 monocular esotropia DOID:10293 An esotropia that is characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance. url:https://en.wikipedia.org/wiki/Esotropia Intermittent esotropia, monocular Intermittent monocular esotropia (disorder) Monocular intermittent esotropia (disorder) disease_ontology DOID:10294 obsolete intermittent monocular esotropia true DOID:10294 Monocular esotropia with A pattern (disorder) disease_ontology DOID:10295 obsolete monocular esotropia with A pattern true DOID:10295 Monocular esotropia with V pattern (disorder) disease_ontology DOID:10296 obsolete monocular esotropia with V pattern true DOID:10296 A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress. ICD10CM:I73.0 MESH:D011928 MIM:179600 SNOMEDCT_US_2023_03_01:195295006 UMLS_CUI:C0034734 Raynaud's disease Raynaud's syndrome disease_ontology DOID:10300 OMIM mapping confirmed by DO. [SN]. Raynaud disease MESH:D011928 DOID:10300 A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress. url:https://medlineplus.gov/raynaudsdisease.html url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/raynauds-phenomenon A parotid disease characterized by the inflammation of one or both parotid glands. ICD10CM:K11.2 MESH:D010309 NCI:C114281 SNOMEDCT_US_2023_03_01:196481002 UMLS_CUI:C0030583 disease_ontology DOID:10301 parotitis MESH:D010309 DOID:10301 A parotid disease characterized by the inflammation of one or both parotid glands. url:http://en.wikipedia.org/wiki/Parotitis A salivary gland disease that is located in the parotid gland. MESH:D010305 UMLS_CUI:C0030579 disease_ontology DOID:10302 parotid disease DOID:10302 A salivary gland disease that is located in the parotid gland. url:https://www.mayoclinic.org/diseases-conditions/parotid-tumor/cdc-20388269 A salivary gland disease that is characterized as an infection of the salivary glands. GARD:7638 ICD10CM:K11.2 ICD9CM:527.2 MESH:D012793 NCI:C26882 SNOMEDCT_US_2023_03_01:42982001 UMLS_CUI:C0037023 Sialoadenitis disease_ontology DOID:10303 sialadenitis DOID:10303 A salivary gland disease that is characterized as an infection of the salivary glands. url:https://rarediseases.info.nih.gov/diseases/7638/sialadenitis A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. Rubulavirus infectious disease disease_ontology DOID:10304 obsolete Mumps virus infectious disease true DOID:10304 A viral infectious disease that results_in infection in humans, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. url:http://www.expasy.org/viralzone/all_by_species/88.html A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen. Mumps orchitis (disorder) disease_ontology DOID:10305 obsolete Mumps virus orchitis true DOID:10305 A Mumps virus infectious disease that results_in inflammation located_in testis, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom groin pain, has_symptom discharge from penis, has_symptom scrotal swelling, and has_symptom blood in the semen. url:http://www.nlm.nih.gov/medlineplus/ency/article/001280.htm A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness. Mumps polyneuropathy (disorder) Polyneuropathy in mumps (disorder) disease_ontology DOID:10307 obsolete Mumps virus polyneuritis true DOID:10307 A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness. url:http://www.merckmanuals.com/home/sec06/ch095/ch095h.html url:http://www.merckmanuals.com/professional/sec14/ch193/ch193d.html A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness. Mumps meningitis (disorder) disease_ontology DOID:10309 obsolete Mumps virus meningitis true DOID:10309 A Mumps virus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom severe headache, and has_symptom neck stiffness. url:http://www.cyh.com/HealthTopics/HealthTopicDetails.aspx?p=114&np=303&id=1784 A meningitis that has_material_basis_in a viral infection. ICD10CM:A87 ICD9CM:047.9 MESH:D008587 NCI:C118298 SNOMEDCT_US_2023_03_01:154321007 UMLS_CUI:C0025297 disease_ontology DOID:10310 viral meningitis DOID:10310 A meningitis that has_material_basis_in a viral infection. url:https://en.wikipedia.org/wiki/Viral_meningitis A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech. Mumps encephalitis (disorder) disease_ontology DOID:10311 obsolete Mumps virus encephalitis true DOID:10311 A Mumps virus infectious disease that results_in inflammation located_in brain, has_material_basis_in Mumps virus, which is transmitted_by contact with the oronasal secretions of an infected person. The infection has_symptom convulsions, has_symptom drowsiness, has_symptom rigidity of limbs, and has_symptom slurred speech. url:http://www.ncbi.nlm.nih.gov/sites/entrez/5046780 A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting. Mumps pancreatitis (disorder) disease_ontology DOID:10312 obsolete Mumps virus pancreatitis true DOID:10312 A Mumps virus infectious disease that results_in inflammation located_in pancreas, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom abdominal pain, has_symptom chills, has_symptom fever, and has_symptom persistent vomiting. url:http://emedicine.medscape.com/article/966678-overview A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves. DOID:14058 ICD10CM:I33.9 ICD9CM:421.9 MESH:D004696 NCI:C34582 NCI:C35432 SNOMEDCT_US_2023_03_01:56819008 SNOMEDCT_US_2023_03_01:91357005 UMLS_CUI:C0014118 UMLS_CUI:C0375268 disease_ontology DOID:10314 endocarditis DOID:10314 A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves. url:http://en.wikipedia.org/wiki/Endocarditis url:http://www.nhlbi.nih.gov/health/health-topics/topics/endo/ An interstitial lung disease that is caused by the inhalation of dust. ICD10CM:J64 ICD9CM:505 MESH:D011009 NCI:C26861 SNOMEDCT_US_2023_03_01:196004000 UMLS_CUI:C0032273 disease_ontology DOID:10316 pneumoconiosis DOID:10316 An interstitial lung disease that is caused by the inhalation of dust. url:http://en.wikipedia.org/wiki/Pneumoconiosis A pneumoconiosis caused by the inhalation of mixed mineral dust particles. NCI:C27559 SNOMEDCT_US_2023_03_01:233759002 UMLS_CUI:C0340184 disease_ontology DOID:10319 mixed mineral dust pneumoconiosis DOID:10319 A pneumoconiosis caused by the inhalation of mixed mineral dust particles. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6928373/ A pneumoconiosis caused by inhalation and retention of asbestos fibers. GARD:5852 ICD10CM:J61 ICD9CM:501 MESH:D001195 NCI:C84573 SNOMEDCT_US_2023_03_01:266400008 UMLS_CUI:C0003949 disease_ontology DOID:10320 asbestosis DOID:10320 A pneumoconiosis caused by inhalation and retention of asbestos fibers. url:http://en.wikipedia.org/wiki/Asbestosis A pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops. GARD:8371 MESH:C537080 NCI:C34410 SNOMEDCT_US_2023_03_01:50076003 UMLS_CUI:C0340177 disease_ontology DOID:10321 baritosis DOID:10321 A pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops. url:https://rarediseases.info.nih.gov/diseases/8371/baritosis A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds. ICD10CM:J63.2 MESH:D001607 SNOMEDCT_US_2023_03_01:8247009 UMLS_CUI:C0005138 beryllium poisoning disease_ontology DOID:10322 berylliosis DOID:10322 A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds. url:http://en.wikipedia.org/wiki/Berylliosis sn:IEDB A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing. GARD:5976 ICD10CM:J66.0 MESH:D002095 NCI:C84605 SNOMEDCT_US_2023_03_01:155589004 UMLS_CUI:C0006542 Flax-dressers' disease Stripper's asthma cotton mill fever disease_ontology DOID:10323 byssinosis DOID:10323 A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767605/ A pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath and induces fibrous nodule formation in the lung. ICD10CM:J60 MESH:D000874 NCI:C34389 SNOMEDCT_US_2023_03_01:33548005 UMLS_CUI:C0003164 disease_ontology DOID:10324 anthracosilicosis DOID:10324 A pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath and induces fibrous nodule formation in the lung. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765255/ A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles. DOID:14007 GARD:7647 ICD10CM:J62.8 ICD9CM:502 MESH:D012829 NCI:C3369 SNOMEDCT_US_2023_03_01:155590008 UMLS_CUI:C0037116 Pneumoconiosis due to silicates Silica pneumoconiosis Silicotic fibrosis of lung silicotuberculosis disease_ontology DOID:10325 silicosis DOID:10325 A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles. url:http://en.wikipedia.org/wiki/Silicosis ls:IEDB A pneumoconiosis that results_in humans that also have rheumatoid arthritis. MESH:D002205 SNOMEDCT_US_2023_03_01:111280008 UMLS_CUI:C0006915 Caplan syndrome Caplan's disease Caplans syndrome Rheumatoid pneumoconiosis disease_ontology DOID:10326 Caplan's syndrome DOID:10326 A pneumoconiosis that results_in humans that also have rheumatoid arthritis. url:http://en.wikipedia.org/wiki/Caplan%27s_syndrome url:http://www.nlm.nih.gov/medlineplus/ency/article/000137.htm A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. ICD10CM:J60 ICD9CM:500 MESH:D055008 NCI:C34390 SNOMEDCT_US_2023_03_01:29422001 UMLS_CUI:C0003165 Coal Miner's Pneumoconiosis Coal workers' lung Coal workers' pneumoconiosis Melanoedema black lung disease_ontology DOID:10327 anthracosis DOID:10327 A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386010/ A pneumoconiosis that is characterized by the deposition of excess iron in body tissue resulting from inhalation of iron in the mining dust or welding fumes. GARD:7645 ICD10CM:J63.4 MESH:D012806 SNOMEDCT_US_2023_03_01:155591007 UMLS_CUI:C0037061 pulmonary siderosis disease_ontology DOID:10328 siderosis DOID:10328 A pneumoconiosis that is characterized by the deposition of excess iron in body tissue resulting from inhalation of iron in the mining dust or welding fumes. url:https://en.wikipedia.org/wiki/Siderosis A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc. ICD10CM:J62.0 NCI:C27026 SNOMEDCT_US_2023_03_01:73144008 UMLS_CUI:C0238377 pneumoconiosis due to talc talc pneumoconiosis talcosis disease_ontology DOID:10329 pulmonary talcosis DOID:10329 A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc. url:https://diagnosticpathology.biomedcentral.com/articles/10.1186/1746-1596-7-26 url:https://pubmed.ncbi.nlm.nih.gov/34390717/ url:https://pubmed.ncbi.nlm.nih.gov/34401315/ url:https://radiopaedia.org/articles/talcosis-1 A pneumoconiosis that is caused by exposure to slate dust. NCI:C35397 SNOMEDCT_US_2023_03_01:1259003 UMLS_CUI:C0340186 Schistosis disease_ontology DOID:10330 slate pneumoconiosis DOID:10330 A pneumoconiosis that is caused by exposure to slate dust. url:https://academic.oup.com/occmed/article/67/1/20/2420658 url:https://pubmed.ncbi.nlm.nih.gov/7426466/ A pneumoconiosis that is caused by inhalation of kaolin dust. GARD:8355 NCI:C35315 SNOMEDCT_US_2023_03_01:36696005 UMLS_CUI:C0264435 Kaolinosis disease_ontology DOID:10331 kaolin pneumoconiosis DOID:10331 A pneumoconiosis that is caused by inhalation of kaolin dust. url:https://www.amjmed.com/article/S0002-9343%2820%2930716-6/fulltext disorder of optic chiasm associated with vascular disorder disease_ontology DOID:10332 obsolete disorder of optic chiasm due to vascular disorder true DOID:10332 DOID:1295 Congenital abnormality of skull and face bones (disorder) Congenital anomalies of skull and face bones Skull and face &/or face bone anomalies Skull or face bone anomaly NOS Skull or face bone anomaly NOS (disorder) disease_ontology DOID:10334 obsolete craniofacial abnormality true DOID:10334 An optic atrophy that is characterized by optic nerve damage with increased optic cup to disc ratio secondary to glaucoma, which is an eye disease related to abnormal aqueous fluid outflow that inappropriately raises intraocular pressure and results in optic nerve atrophy with progressive visual field loss. Glaucomatous atrophy of optic disc can be caused by any form of glaucoma. ICD10CM:H47.23 ICD9CM:377.14 SNOMEDCT_US_2023_03_01:1207009 UMLS_CUI:C0271342 Glaucomatous atrophy [cupping] of optic disc disease_ontology DOID:10337 glaucomatous atrophy of optic disc DOID:10337 An optic atrophy that is characterized by optic nerve damage with increased optic cup to disc ratio secondary to glaucoma, which is an eye disease related to abnormal aqueous fluid outflow that inappropriately raises intraocular pressure and results in optic nerve atrophy with progressive visual field loss. Glaucomatous atrophy of optic disc can be caused by any form of glaucoma. url:https://en.wikipedia.org/wiki/Glaucoma#Primary_glaucoma_and_its_variants url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083760/ Unspecified schizophrenia, subchronic state subchronic Schizophrenia subchronic schizophrenia (disorder) disease_ontology DOID:10338 obsolete subchronic schizophrenia true DOID:10338 simple schizophrenia simple schizophrenia (disorder) simple schizophrenia NOS (disorder) simple type Schizophrenia simple type schizophrenia simple type schizophrenia, unspecified state disease_ontology DOID:10339 obsolete schizophrenia simplex true DOID:10339 Residual schizophrenia, subchronic state subchronic residual schizophrenia (disorder) disease_ontology DOID:10340 obsolete residual subchronic schizophrenia true DOID:10340 ICD10CM:G03.1 ICD9CM:322.2 SNOMEDCT_US_2023_03_01:21664006 UMLS_CUI:C0154653 disease_ontology DOID:10341 chronic meningitis DOID:10341 Latent schizophrenia, subchronic state Latent subchronic Schizophrenia subchronic latent schizophrenia (disorder) disease_ontology DOID:10342 obsolete subchronic latent schizophrenia true DOID:10342 Latent Schizophrenia Latent schizophrenia Latent schizophrenia (disorder) Latent schizophrenia NOS (disorder) Latent schizophrenia, unspecified state Latent schizophrenic reaction Unspecified latent schizophrenia (disorder) disease_ontology DOID:10343 obsolete latent schizophrenia true DOID:10343 An eyelid disease that is characterized by abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. GARD:5932 ICD10CM:H02.52 ICD9CM:374.46 MESH:D016569 UMLS_CUI:C0005744 disease_ontology DOID:10348 blepharophimosis MESH:D016569 DOID:10348 An eyelid disease that is characterized by abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. url:https://en.wikipedia.org/wiki/Blepharophimosis A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma. ICD10CM:N60.0 ICD9CM:610.0 NCI:C3378 SNOMEDCT_US_2023_03_01:270538000 UMLS_CUI:C0037619 Solitary Cyst of the breast disease_ontology DOID:10349 solitary cyst of breast DOID:10349 A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma. url:https://www.ncbi.nlm.nih.gov/pubmed/14223874 A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen. ICD10CM:C94.8 ICDO:9948/3 NCI:C8647 SNOMEDCT_US_2023_03_01:128833001 UMLS_CUI:C1292777 aggressive NK-cell leukaemia large granular Lymphocyte Leukemia, NK-cell type natural killer cell leukaemia natural killer cell leukemia disease_ontology DOID:1035 aggressive NK-cell leukemia DOID:1035 A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen. url:https://en.wikipedia.org/wiki/Aggressive_NK-cell_leukemia url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C8647 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191480/ A breast benign neoplasm that is characterized by a fluid-filled sac. ICD10CM:N60.0 MESH:D047688 NCI:C5315 SNOMEDCT_US_2023_03_01:56726003 UMLS_CUI:C0006144 Cyst of the breast disease_ontology DOID:10350 breast cyst DOID:10350 A breast benign neoplasm that is characterized by a fluid-filled sac. url:https://en.wikipedia.org/wiki/Breast_cyst Comedomastitis Mammary duct ectasia (disorder) Mammary duct ectasia [Ambiguous] disease_ontology DOID:10351 obsolete mammary duct ectasia true DOID:10351 A breast benign neoplasm that has_material_basis_in fibrous tissue and epithelial tissue in which tumor cells form glands or glandlike structures. ICD10CM:N60.2 ICD9CM:610.2 SNOMEDCT_US_2023_03_01:270893004 UMLS_CUI:C1305875 Fibroadenosis - breast Fibroadenosis of breast disease_ontology DOID:10352 breast fibroadenosis DOID:10352 A breast benign neoplasm that has_material_basis_in fibrous tissue and epithelial tissue in which tumor cells form glands or glandlike structures. url:https://en.wikipedia.org/wiki/Fibrosis url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2429655/?page=1 A non-proliferative fibrocystic change of the breast that contains scar tissue. ICD10CM:N60.3 ICD9CM:610.3 NCI:C3660 SNOMEDCT_US_2023_03_01:29070004 UMLS_CUI:C0156318 Fibrosis of the breast disease_ontology DOID:10353 fibrosclerosis of breast DOID:10353 A non-proliferative fibrocystic change of the breast that contains scar tissue. url:https://en.wikipedia.org/wiki/Fibrosclerosis_of_breast A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces. ICD10CM:N60.1 ICD9CM:610.1 MESH:D005348 NCI:C3039 SNOMEDCT_US_2023_03_01:198091009 UMLS_CUI:C0016034 Diffuse cystic mastopathy Fibrocystic disease of breast breast Fibrocystic Change disease_ontology DOID:10354 breast fibrocystic disease DOID:10354 A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces. url:https://www.ncbi.nlm.nih.gov/pubmed/3511705 A leukemia that develops slowly. NCI:C3483 disease_ontology CLL CML adult chronic leukemia DOID:1036 chronic leukemia DOID:1036 A leukemia that develops slowly. url:http://www.nlm.nih.gov/medlineplus/leukemiaadultchronic.html CLL CML A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microL in the cerebrospinal fluid (CSF) or a CSF eosinophilia of at least 10 percent. Symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch. ICD9CM:322.1 NCI:C128374 SNOMEDCT_US_2023_03_01:25671008 UMLS_CUI:C0154652 disease_ontology DOID:10361 eosinophilic meningitis DOID:10361 A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microL in the cerebrospinal fluid (CSF) or a CSF eosinophilia of at least 10 percent. Symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch. url:https://pubmed.ncbi.nlm.nih.gov/31972289/ A male reproductive organ cancer that is located in the epididymis. ICD10CM:C63.0 ICD9CM:187.5 NCI:C3558 SNOMEDCT_US_2023_03_01:363452003 UMLS_CUI:C0153602 malignant Epididymal tumor malignant neoplasm of epididymis malignant tumor of epididymis disease_ontology DOID:10366 epididymis cancer DOID:10366 A male reproductive organ cancer that is located in the epididymis. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3720153/ metastatic neoplasm to the Epididymis secondary malignant neoplasm of epididymis (disorder) disease_ontology DOID:10367 obsolete metastatic tumor to the epididymis true DOID:10367 An epididymis cancer that derives_from epithelial cells of glandular origin. NCI:C39957 UMLS_CUI:C1510784 disease_ontology adenocarcinoma of the epididymis DOID:10368 epididymis adenocarcinoma DOID:10368 An epididymis cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. DOID:10747 ICD10CM:C91 ICD9CM:204 ICDO:9820/3 MESH:D007945 NCI:C7539 SNOMEDCT_US_2023_03_01:93170002 UMLS_CUI:C0023448 lymphoblastic leukaemia lymphoblastic leukemia lymphocytic leukaemia disease_ontology DOID:1037 lymphoid leukemia DOID:1037 A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. url:http://www.cancer.gov/dictionary?CdrID=616067 A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions. GARD:7913 ICD10CM:A66 ICD9CM:102 MESH:D015001 NCI:C41353 SNOMEDCT_US_2023_03_01:266213004 UMLS_CUI:C0043388 Bouba frambesia frambesia tropica frambosie polypapilloma tropicum thymosis disease_ontology DOID:10371 yaws DOID:10371 A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions. url:http://en.wikipedia.org/wiki/Yaws url:http://www.who.int/mediacentre/factsheets/fs316/en/ An amblyopia that is characterized by strabismus or eye misalignment. The brain begins to ignore the eye that is not straight and the vision subsequently drops in that eye. ICD10CM:H53.03 ICD9CM:368.01 MESH:D000550 SNOMEDCT_US_2023_03_01:35600002 UMLS_CUI:C0750903 suppression amblyopia disease_ontology DOID:10375 strabismic amblyopia DOID:10375 An amblyopia that is characterized by strabismus or eye misalignment. The brain begins to ignore the eye that is not straight and the vision subsequently drops in that eye. url:https://aapos.org/glossary/amblyopia url:https://pubmed.ncbi.nlm.nih.gov/25051925/ An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward. ICD10CM:H53.00 ICD9CM:368.00 MESH:D000550 NCI:C118764 SNOMEDCT_US_2023_03_01:155145007 UMLS_CUI:C0002418 lazy eye disease_ontology DOID:10376 amblyopia MESH:D000550 DOID:10376 An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward. url:https://en.wikipedia.org/wiki/Amblyopia url:https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/amblyopia-lazy-eye An amblyopia that is characterized by refractive error in one or both eyes that is not corrected early in childhood resulting in poor development of the visual function in the affected eye(s). ICD10CM:H53.02 ICD9CM:368.03 SNOMEDCT_US_2023_03_01:90927000 UMLS_CUI:C0152190 ametropic amblyopia disease_ontology DOID:10377 refractive amblyopia DOID:10377 An amblyopia that is characterized by refractive error in one or both eyes that is not corrected early in childhood resulting in poor development of the visual function in the affected eye(s). url:https://aapos.org/glossary/amblyopia An amblyopia that is characterized by a structural anomaly that impairs vision like a droopy eyelid or an opacity in the eye, such as a cataract or corneal scar. ICD10CM:H53.01 ICD9CM:368.02 SNOMEDCT_US_2023_03_01:193638002 UMLS_CUI:C0152189 disuse amblyopia disease_ontology DOID:10378 deprivation amblyopia DOID:10378 An amblyopia that is characterized by a structural anomaly that impairs vision like a droopy eyelid or an opacity in the eye, such as a cataract or corneal scar. url:https://aapos.org/glossary/amblyopia disease_ontology DOID:1038 obsolete mature T-cell neoplasm true DOID:1038 DOID:10379 DOID:14438 Precipitate labor, antepartum Precipitate labor, with delivery disease_ontology DOID:10380 obsolete precipitate labor true DOID:10380 Staphylococcal meningitis (disorder) disease_ontology DOID:10381 obsolete staphylococcal meningitis true DOID:10381 A brachial plexus neuropathy that is characterized by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, and that has_material_basis_in heterozygous mutation in the SEPT9 gene on chromosome 17q25. ICD10CM:G54.5 ICD9CM:353.5 MESH:D020968 MIM:162100 SNOMEDCT_US_2023_03_01:3548001 UMLS_CUI:C1510479 neuralgic amyotrophy disease_ontology DOID:10383 OMIM mapping confirmed by DO. [SN]. amyotrophic neuralgia DOID:10383 A brachial plexus neuropathy that is characterized by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, and that has_material_basis_in heterozygous mutation in the SEPT9 gene on chromosome 17q25. url:https://medlineplus.gov/genetics/condition/hereditary-neuralgic-amyotrophy/ Papilledema associated with decreased ocular pressure (disorder) disease_ontology DOID:10384 obsolete papilledema associated with decreased ocular pressure true DOID:10384 A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen. ICDO:9832/3 MESH:D015463 NCI:C3181 SNOMEDCT_US_2023_03_01:110006004 UMLS_CUI:C0023486 PLL Prolymphocytic leukaemia disease_ontology DOID:1039 prolymphocytic leukemia DOID:1039 A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen. url:https://cancer.ca/en/cancer-information/cancer-types/non-hodgkin-lymphoma/what-is-non-hodgkin-lymphoma/prolymphocytic-leukemias PLL ICD10CM:M89.4 ICD9CM:731.2 MESH:D010005 SNOMEDCT_US_2023_03_01:46922002 UMLS_CUI:C0029412 Bamberger-Marie disease HPOA - hypertrophic pulmonary osteoarthropathy Marie Bamberger disease hypertrophic pulmonary osteoarthropathy disease_ontology DOID:10393 secondary hypertrophic osteoarthropathy DOID:10393 A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing. DOID:10401 DOID:10402 ICD10CM:A20.2 ICD9CM:020.3 ICD9CM:020.4 ICD9CM:020.5 MESH:D010930 SNOMEDCT_US_2023_03_01:35339003 SNOMEDCT_US_2023_03_01:38976008 SNOMEDCT_US_2023_03_01:67525007 UMLS_CUI:C0152937 UMLS_CUI:C0152938 UMLS_CUI:C0524688 primary pneumonic plague secondary pneumonic plague disease_ontology DOID:10398 pneumonic plague DOID:10398 A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing. url:https://en.wikipedia.org/wiki/Pneumonic_plague ICD9CM:098.34 SNOMEDCT_US_2023_03_01:23975003 UMLS_CUI:C0153205 Gonococcal seminal vesiculitis, chronic disease_ontology DOID:10399 seminal vesicle chronic gonorrhea DOID:10399 A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. ICD10CM:A49.9 MESH:D001424 NCI:C2890 SNOMEDCT_US_2023_03_01:87628006 UMLS_CUI:C0004623 disease_ontology DOID:104 bacterial infectious disease DOID:104 A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. url:http://en.wikipedia.org/wiki/Pathogenic_bacteria A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood. EFO:0000095 GARD:6104 ICD10CM:C91.10 ICD9CM:204.1 MESH:D015451 MIM:109543 MIM:151400 MIM:609630 MIM:612557 MIM:612558 MIM:612559 NCI:C3163 ORDO:67038 SNOMEDCT_US_2023_03_01:51092000 UMLS_CUI:C0023434 B-cell chronic lymphocytic leukaemia B-cell chronic lymphocytic leukemia CLL chronic lymphatic leukaemia chronic lymphatic leukemia chronic lymphocytic leukaemia lymphoplasmacytic leukaemia lymphoplasmacytic leukemia disease_ontology B-cell chronic lymphoid leukemia DOID:1040 Xref MGI. chronic lymphocytic leukemia DOID:1040 A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood. url:http://en.wikipedia.org/wiki/B-cell_chronic_lymphocytic_leukemia url:http://www.cancer.gov/dictionary?cdrid=346545 CLL SNOMEDCT_US_2023_03_01:301990003 UMLS_CUI:C0578661 Gonorrhea of seminal vesicle disease_ontology DOID:10400 gonococcal seminal vesiculitis DOID:10400 DOID:10262 DOID:1041 Generalized infection during labor, delivered antepartum generalized infection during labor disease_ontology DOID:1042 obsolete Generalized infection during labor true DOID:1042 ICD9CM:523.33 NCI:C34354 SNOMEDCT_US_2023_03_01:155646007 UMLS_CUI:C0001342 acute periodontitis disease_ontology DOID:10423 acute pericementitis DOID:10423 A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. DOID:14747 GARD:10280 ICD10CM:Q76.1 ICD9CM:756.16 MESH:D007714 MIM:PS118100 NCI:C98967 ORDO:2345 SNOMEDCT_US_2023_03_01:268349005 UMLS_CUI:C0022738 Klippel-Feil and Turner syndrome Klippel-Feil deformity, deafness and facial asymmetry autosomal dominant Klippel-Feil syndrome congenital dystrophia brevicollis congenital synostosis of cervical vertebrae disease_ontology DOID:10426 Xref MGI. OMIM mapping confirmed by DO. [SN]. Klippel-Feil syndrome DOID:10426 A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. url:http://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome url:http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm url:http://www.wheelessonline.com/ortho/klippel_feil_syndrome ICD10CM:H18.61 ICD9CM:371.61 SNOMEDCT_US_2023_03_01:193844000 UMLS_CUI:C0155131 Keratoconus, stable condition disease_ontology DOID:10428 stable condition keratoconus DOID:10428 A suppurative otitis media with sudden onset and a short course. ICD9CM:382.02 UMLS_CUI:C0155439 disease_ontology DOID:10435 purulent acute otitis media DOID:10435 A suppurative otitis media with sudden onset and a short course. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false disease_ontology DOID:10437 obsolete metastasis to lymph node true DOID:10437 A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema. ICD10CM:H16.05 ICD9CM:370.07 SNOMEDCT_US_2023_03_01:22440001 UMLS_CUI:C0155072 Mooren ulcer disease_ontology DOID:10439 Mooren's ulcer DOID:10439 A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema. url:https://eyewiki.aao.org/Mooren%27s_Ulcer Non-traumatic muscle tear Nontraumatic rupture of muscle (disorder) Rupture of muscle, nontraumatic disease_ontology DOID:1044 obsolete nontraumatic rupture of muscle true DOID:1044 A corneal ulcer that is characterized by ulceration of the cornea secondary to fungal infection and is caused by minor trauma and subsequent infection by mycotic organisms, such as candida, aspergillus, fusarium, and rhizopus. ICD10CM:H16.06 ICD9CM:370.05 SNOMEDCT_US_2023_03_01:59939007 UMLS_CUI:C0155071 disease_ontology DOID:10440 mycotic corneal ulcer DOID:10440 A corneal ulcer that is characterized by ulceration of the cornea secondary to fungal infection and is caused by minor trauma and subsequent infection by mycotic organisms, such as candida, aspergillus, fusarium, and rhizopus. url:https://eyewiki.aao.org/Fungal_Keratitis A corneal ulcer that is characterized by infiltrate formation in the marginal zone that is parallel but separated from the limbus. ICD10CM:H16.04 ICD9CM:370.01 SNOMEDCT_US_2023_03_01:47398006 UMLS_CUI:C0155067 disease_ontology DOID:10441 marginal corneal ulcer DOID:10441 A corneal ulcer that is characterized by infiltrate formation in the marginal zone that is parallel but separated from the limbus. url:https://www.reviewofoptometry.com/article/is-it-an-ulcer-or-an-infiltrate ICD10CM:H16.03 ICD9CM:370.04 SNOMEDCT_US_2023_03_01:193762002 UMLS_CUI:C0155070 disease_ontology DOID:10442 hypopyon ulcer DOID:10442 ICD10CM:H20.05 ICD9CM:364.05 NCI:C50593 SNOMEDCT_US_2023_03_01:87807004 UMLS_CUI:C0020641 disease_ontology DOID:10443 hypopyon DOID:10443 A corneal ulcer that is characterized by a ring of infiltration and/or ulceration that forms on the cornea. ICD10CM:H16.02 ICD9CM:370.02 SNOMEDCT_US_2023_03_01:193760005 UMLS_CUI:C0155068 disease_ontology DOID:10444 ring corneal ulcer DOID:10444 A corneal ulcer that is characterized by a ring of infiltration and/or ulceration that forms on the cornea. url:https://www.ncbi.nlm.nih.gov/pubmed/16693254 A corneal ulcer that has progressed and thinned the cornea such that the cornea ruptures, leaving a small hole that may drain or appear to contain pigment. ICD10CM:H16.07 ICD9CM:370.06 SNOMEDCT_US_2023_03_01:46606001 UMLS_CUI:C0151844 disease_ontology DOID:10445 perforated corneal ulcer DOID:10445 A corneal ulcer that has progressed and thinned the cornea such that the cornea ruptures, leaving a small hole that may drain or appear to contain pigment. url:https://www.aao.org/eyenet/article/corneal-perforations DOID:10446 DOID:14076 DOID:14077 Thyroid dysfunction of mother, with delivery antepartum thyroid dysfunction postpartum thyroid dysfunction disease_ontology DOID:10447 obsolete thyroid dysfunction complicating pregnancy, childbirth, or the puerperium true DOID:10447 disease_ontology DOID:1045 obsolete fascia disease true DOID:1045 An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills. DOID:10454 DOID:13751 ICD10CM:J35.01 ICD9CM:474.00 MESH:D014069 NCI:C116006 SNOMEDCT_US_2023_03_01:195665006 SNOMEDCT_US_2023_03_01:195794009 UMLS_CUI:C0040425 UMLS_CUI:C0149517 Throat infection - tonsillitis chronic tonsillitis disease_ontology DOID:10456 tonsillitis DOID:10456 An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills. url:http://en.wikipedia.org/wiki/Tonsillitis url:https://www.merriam-webster.com/dictionary/tonsillitis#medicalDictionary A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. ICD10CM:A48.1 ICD9CM:482.84 MESH:D007877 NCI:C128339 SNOMEDCT_US_2023_03_01:195889001 UMLS_CUI:C0023241 Infection by Legionella pneumophilia Legionella Legionella pneumonia Legionnaire's disease disease_ontology DOID:10457 Legionnaires' disease DOID:10457 A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. url:http://en.wikipedia.org/wiki/Legionellosis A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea. MESH:D007876 NCI:C128334 SNOMEDCT_US_2023_03_01:26726000 UMLS_CUI:C0023240 Legionella infection disease_ontology DOID:10458 legionellosis DOID:10458 A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea. url:http://en.wikipedia.org/wiki/Legionellosis url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm4934a1.htm An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus. ICD10CM:J00 ICD9CM:460 MESH:D003139 NCI:C34500 SNOMEDCT_US_2023_03_01:195648002 UMLS_CUI:C0009443 Acute viral rhinopharyngitis Nasopharyngitis - acute Nasopharyngitis, acute acute coryza acute nasopharyngitis acute rhinitis rhino-sinusitis disease_ontology DOID:10459 common cold DOID:10459 An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus. url:https://medlineplus.gov/commoncold.html url:https://www.merriam-webster.com/dictionary/common%20cold#medicalDictionary A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx. DOID:11587 ICD10CM:J00 ICD10CM:J31.1 ICD9CM:472.2 MESH:D009304 NCI:C34837 SNOMEDCT_US_2023_03_01:155524006 SNOMEDCT_US_2023_03_01:51476001 UMLS_CUI:C0027441 UMLS_CUI:C0155826 chronic nasopharyngitis disease_ontology DOID:10460 nasopharyngitis DOID:10460 A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx. url:http://medical-dictionary.thefreedictionary.com/nasopharyngitis url:http://www.merriam-webster.com/medical/nasopharyngitis ICD10CM:K02 ICD9CM:521.02 SNOMEDCT_US_2023_03_01:442551007 UMLS_CUI:C0266846 Compound dental caries Dental caries extending into dentine disease_ontology DOID:10461 dentin caries DOID:10461 Diabetes mellitus type I [juvenile type], uncontrolled, with neurological manifestations disease_ontology DOID:10469 obsolete diabetes mellitus juvenile type, uncontrolled, with neurological manifestations true DOID:10469 DOID:1046 DOID:10663 DOID:10664 DOID:10665 DOID:12734 DOID:14128 DOID:9701 Mental disorder of mother, antepartum Mental disorder of mother, with delivery peripheral neuritis antepartum peripheral neuritis in pregnancy, with delivery peripheral neuritis postpartum postpartum edema or excessive weight gain postpartum mental disorder of mother disease_ontology DOID:1047 obsolete Mental disorder complicating pregnancy, childbirth, or the puerperium true DOID:1047 ICD10CM:M76.5 ICD9CM:726.64 SNOMEDCT_US_2023_03_01:156662006 UMLS_CUI:C0158317 Patellar tendonitis disease_ontology DOID:10471 patellar tendinitis DOID:10471 A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain. Candidiasis of lung disease_ontology DOID:10472 obsolete candidal pneumonia true DOID:10472 A candidiasis that involves inflammation of the lung caused by Candida species either by hematogenous dissemination or by bronchial extension in patients with oropharyngeal candidiasis. The symptoms include fever, tachypnea, dyspnea, and chest pain. url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ Enthesopathy of the wrist and carpus (disorder) Enthesopathy of wrist and carpus Enthesopathy of wrist and/or carpus (disorder) Wrist or carpus enthesopathy NOS (disorder) disease_ontology DOID:10473 obsolete wrist or carpus enthesopathy true DOID:10473 ICD10CM:Q79.1 MESH:D003965 NCI:C98912 SNOMEDCT_US_2023_03_01:34168003 UMLS_CUI:C0011981 disease_ontology DOID:10480 diaphragmatic eventration DOID:10480 A muscular disease that is located_in the diaphragm. ICD10CM:J98.6 ICD9CM:519.4 SNOMEDCT_US_2023_03_01:48475001 UMLS_CUI:C0152097 disease_ontology DOID:10481 diaphragm disease DOID:10481 A muscular disease that is located_in the diaphragm. url:http://www.bmc.org/thoracicsurgery/diseasesandconditions-diaphragm.htm DOID:10482 DOID:11860 disease_ontology DOID:10483 obsolete hypertonic, incoordinate, or prolonged uterine contractions true DOID:10483 GARD:6381 ICD10CM:Q39.0 MESH:D004933 NCI:C87072 SNOMEDCT_US_2023_03_01:156947007 UMLS_CUI:C0014850 Congenital atresia of esophagus Congenital imperforate esophagus Imperforate esophagus Oesophageal atresia disease_ontology DOID:10485 esophageal atresia DOID:10485 ICD10CM:Q41.1 MESH:D007409 NCI:C84790 UMLS_CUI:C0021828 disease_ontology DOID:10486 intestinal atresia DOID:10486 A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. GARD:6660 ICD10CM:Q43.1 MESH:D006627 MIM:600156 MIM:606874 MIM:606875 MIM:608462 MIM:611644 NCI:C34700 ORDO:388 SNOMEDCT_US_2023_03_01:204739008 UMLS_CUI:C0019569 Hirschsprung disease aganglionic megacolon congenital megacolon macrocolon pelvirectal achalasia total intestinal aganglionosis disease_ontology DOID:10487 Xref MGI. OMIM mapping confirmed by DO. [SN]. Hirschsprung's disease DOID:10487 A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. url:http://en.wikipedia.org/wiki/Hirschsprung%27s_disease url:http://www.nlm.nih.gov/medlineplus/ency/article/001140.htm url:http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease url:https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease GARD:6769 ICD10CM:Q42.3 MESH:D001006 MIM:207500 MIM:301800 NCI:C84784 SNOMEDCT_US_2023_03_01:156956004 UMLS_CUI:C0003466 Congenital atresia of anus Congenital or infantile occlusion of anus anal atresia disease_ontology DOID:10488 OMIM mapping confirmed by DO. [SN]. imperforate anus DOID:10488 disease_ontology DOID:10489 obsolete transient disorder of initiating or maintaining wakefulness true DOID:10489 ICD9CM:255.4 NCI:C26691 SNOMEDCT_US_2023_03_01:68588005 UMLS_CUI:C0405580 Adrenal Cortical Insufficiency Corticoadrenal insufficiency disease_ontology DOID:10493 adrenal cortical hypofunction DOID:10493 Syphilitic endocarditis of pulmonary valve (disorder) disease_ontology DOID:10494 obsolete pulmonary valve syphilitic endocarditis true DOID:10494 ICD10CM:H05.11 ICD9CM:376.11 NCI:C3653 SNOMEDCT_US_2023_03_01:194008000 UMLS_CUI:C0155262 disease_ontology DOID:10499 orbital granuloma DOID:10499 disease_ontology DOID:10501 obsolete menopausal and postmenopausal disorder true DOID:10501 DOID:10504 generalized nonconvulsive epilepsy with intractable epilepsy disease_ontology DOID:10505 obsolete generalized nonconvulsive epilepsy disease true DOID:10505 A pericarditis characterized by inflammation, occurring after injury, located_in pericardium. ICD10CM:I24.1 ICD9CM:411.0 SNOMEDCT_US_2023_03_01:66189004 UMLS_CUI:C0152107 Dressler syndrome Postmyocardial infarction syndrome disease_ontology DOID:10507 Dressler's syndrome DOID:10507 A pericarditis characterized by inflammation, occurring after injury, located_in pericardium. url:http://en.wikipedia.org/wiki/Dressler%27s_syndrome url:http://www.mayoclinic.org/diseases-conditions/dresslers-syndrome/basics/definition/con-20026307 A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis. Anthrax pneumonia (disorder) Pneumonia in anthrax Woolsorters' pneumonia disease_ontology DOID:10508 obsolete Bacillus anthracis pneumonia true DOID:10508 A primary Bacillaceae infectious disease involving Bacillus anthracis infection resulting in pulmonary infiltrates and necrosis. url:http://www.cdc.gov/ncidod/EID/vol7no6/jernigan.htm url:https://www.ncbi.nlm.nih.gov/pubmed/8460135 A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills. influenza pneumonia influenzal pneumonia disease_ontology DOID:10510 obsolete influenza virus pneumonia true DOID:10510 A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Influenza A virus, has_material_basis_in Influenza B virus, or has_material_basis_in Influenza C virus, which can directly damage the respiratory epithelium, allowing free access to invading bacteria. The mucous membranes are covered with foamy, bloody fluid from the pulmonary edema in the more acute cases. Interstitial fibrosis has been observed. The infection has_symptom cough, has_symptom pain in the chest and throughout body, has_symptom headache, has_symptom weakness, and has_symptom chills. url:http://en.wikipedia.org/wiki/Pneumonia An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. ICD10CM:H60.2 ICD9CM:380.14 SNOMEDCT_US_2023_03_01:194206006 UMLS_CUI:C0155395 disease_ontology DOID:10516 malignant otitis externa DOID:10516 An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. url:http://www.merck.com/mmhe/sec19/ch219/ch219c.html url:http://www.nlm.nih.gov/medlineplus/ency/article/000672.htm An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds. ICD9CM:380.12 SNOMEDCT_US_2023_03_01:39149004 UMLS_CUI:C3831782 Tank ear acute bacterial inflammation of external ear acute otitis externa, diffuse acute swimmer's ear acute swimmers' ear disease_ontology DOID:10518 beach ear DOID:10518 An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds. url:http://en.wikipedia.org/wiki/Otitis_externa url:http://www.nlm.nih.gov/medlineplus/ency/article/000622.htm A otomycosis which is persistent and long-lasting or recurrent. ICD9CM:380.15 SNOMEDCT_US_2023_03_01:111898002 UMLS_CUI:C0155396 chronic mycotic otitis externa disease_ontology DOID:10519 chronic fungal otitis externa DOID:10519 A otomycosis which is persistent and long-lasting or recurrent. url:http://www.scielo.br/pdf/bjorl/v75n3/v75n3a10.pdf An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. ICD9CM:380.11 SNOMEDCT_US_2023_03_01:56663002 UMLS_CUI:C0155392 disease_ontology DOID:10520 acute infection of pinna DOID:10520 An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. url:http://books.google.com/books?id=kggm5ighzbUC&pg=PA462&lpg#v=onepage&q=&f=false Unspecified disorder of pinna (disorder) disorder of pinna (disorder) disorder of pinna, unspecified disease_ontology DOID:10521 obsolete pinna disease true DOID:10521 A pterygium that is characterized by a fleshy outpouching of conjunctival growth that appears to have multiple heads or areas of bulk or origin and has_symptom multiple fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Double pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Double pterygiums progress from pinguecula. ICD9CM:372.44 SNOMEDCT_US_2023_03_01:193883003 UMLS_CUI:C0155157 disease_ontology DOID:10525 double pterygium DOID:10525 A pterygium that is characterized by a fleshy outpouching of conjunctival growth that appears to have multiple heads or areas of bulk or origin and has_symptom multiple fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Double pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Double pterygiums progress from pinguecula. url:https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5598180/ A pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Conjunctival pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Conjunctival pterygiums progress from pinguecula. Web eye disease_ontology DOID:10526 conjunctival pterygium DOID:10526 A pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Conjunctival pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Conjunctival pterygiums progress from pinguecula. url:https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/ A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless. Haemophilus influenzae pneumonia (disorder) Pneumonia due to H. influenzae Pneumonia due to Hemophilus influenzae [H. influenzae] pneumonia due to hemophilus influenzae disease_ontology DOID:10527 obsolete Haemophilus influenzae pneumonia true DOID:10527 A Haemophilus influenzae infectious disease that is caused by the strains of Haemophilus influenzae resulting in pleural effusions. This disease occurs in individuals with disorders that impaired the normal defense mechanisms and with pre-existing lung disease. H. influenzae causes bronchopneumonia making the patients wheezy and progressively more breathless. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1788861/pdf/brmedj02208-0016.pdf HEMOPHILUS INFLUENZA INFECTION Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters Haemophilus influenzae [h influenzae] as the cause of disease classified to other chapters (disorder) Haemophilus influenzae infection (disorder) Haemophilus influenzae infection, unspecified (disorder) Hemophilus Influenza Infection disease_ontology DOID:10528 obsolete Haemophilus influenzae infectious disease true DOID:10528 Haemophilus infection (disorder) Hemophilus Infection disease_ontology DOID:10529 obsolete primary Haemophilus infectious disease true DOID:10529 DOID:1052 DOID:11114 DOID:11311 DOID:12032 DOID:12370 DOID:13332 DOID:13797 DOID:1710 Developmental dislocation of ankle and foot joint Developmental dislocation of forearm joint Developmental dislocation of hand joint Developmental dislocation of joint of multiple sites Developmental dislocation of joint of pelvic region and thigh Developmental dislocation of joint of shoulder region Developmental dislocation of lower leg joint Developmental dislocation of upper arm joint disease_ontology DOID:1053 obsolete developmental dislocation of joint true DOID:1053 A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting. Chest infection - pneumococcal pneumonia Lobar -pneumococcal -pneumonia Lobar pneumonia (disorder) Pneumococcal lobar pneumonia (disorder) Pneumococcal pneumonia (disorder) Pneumococcal pneumonia (disorder) [Ambiguous] Pneumococcal pneumonia [Streptococcus pneumoniae pneumonia] Streptococcus pneumoniae pneumonia disease_ontology DOID:10531 obsolete pneumococcal pneumonia true DOID:10531 A pneumococcal infectious disease that involves infection by the bacterium Streptococcus pneumoniae, also known as pneumococcus. In adults, pneumococcal pneumonia is often characterized by sudden onset of illness with symptoms including shaking chills, fever, shortness of breath or rapid breathing, pain in the chest that is worsened by breathing deeply, and a productive cough. In infants and young children, signs and symptoms may not be specific, and may include fever, cough, rapid breathing or grunting. url:http://www.cdc.gov/vaccines/vpd-vac/pneumo/dis-faqs.htm A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias. disease_ontology DOID:10532 obsolete streptococcal pneumonia true DOID:10532 A bacterial pneumonia caused due to the infection by Gram-positive bacteria of genus Streptococcus which are the most common cause of community-acquired pneumonias. url:http://en.wikipedia.org/wiki/Streptococcus A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus. DOID:13167 ICD10CM:J12.9 ICD9CM:480 MESH:D011024 SNOMEDCT_US_2023_03_01:195880002 UMLS_CUI:C0032310 disease_ontology DOID:10533 viral pneumonia DOID:10533 A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus. url:http://en.wikipedia.org/wiki/Pneumonia A gastrointestinal system cancer that is located_in the stomach. DOID:10539 DOID:10542 DOID:10543 DOID:4713 GARD:7704 ICD10CM:C16 ICD10CM:C16.2 ICD10CM:C16.5 ICD10CM:C16.6 ICD9CM:151 ICD9CM:151.4 ICD9CM:151.5 ICD9CM:151.6 MESH:D013274 MIM:613659 NCI:C3387 NCI:C9331 SNOMEDCT_US_2023_03_01:126824007 SNOMEDCT_US_2023_03_01:269459004 SNOMEDCT_US_2023_03_01:269460009 SNOMEDCT_US_2023_03_01:93717002 SNOMEDCT_US_2023_03_01:94074003 UMLS_CUI:C0024623 UMLS_CUI:C0038356 UMLS_CUI:C0153421 UMLS_CUI:C0153422 UMLS_CUI:C0153423 gastric cancer gastric neoplasm disease_ontology DOID:10534 OMIM mapping confirmed by DO. [SN]. stomach cancer DOID:10534 A gastrointestinal system cancer that is located_in the stomach. url:http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer url:http://en.wikipedia.org/wiki/Stomach A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart. disease_ontology DOID:10535 obsolete coxsackie myocarditis true DOID:10535 A coxsackie carditis that results_in inflammation located_in myocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom lethargy, has_symptom heart failure, has_symptom pallor, has_symptom cyanosis, has_symptom dyspnea, has_symptom tachycardia, and has_symptom enlargement of heart. url:http://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_ NCI:C5484 UMLS_CUI:C1334585 malignant gastric granular cell tumour malignant granular cell tumor of stomach malignant granular cell tumour of stomach disease_ontology DOID:10536 malignant gastric granular cell tumor DOID:10536 disease_ontology DOID:10537 obsolete recurrent malignant gastric neoplasm true DOID:10537 A stomach cancer that is located_in the gastric fundus. ICD10CM:C16.1 ICD9CM:151.3 SNOMEDCT_US_2023_03_01:93809003 UMLS_CUI:C0153420 Ca fundus - stomach malignant neoplasm of fundus of stomach malignant tumor of fundus of stomach disease_ontology DOID:10538 gastric fundus cancer DOID:10538 A stomach cancer that is located_in the gastric fundus. url:https://www.cancer.org/cancer/stomach-cancer/about/what-is-stomach-cancer.html Glaucoma associated with chamber angle anomalies (disorder) disease_ontology DOID:1054 obsolete glaucoma associated with chamber angle anomalies true DOID:1054 GARD:6485 NCI:C4636 SNOMEDCT_US_2023_03_01:276811008 UMLS_CUI:C0349532 Lymphoma of the stomach disease_ontology DOID:10540 gastric lymphoma DOID:10540 NCI:C27131 SNOMEDCT_US_2023_03_01:276809004 UMLS_CUI:C0349530 Surface gastric cancer early gastric cancer disease_ontology DOID:10541 microinvasive gastric cancer DOID:10541 ICD10CM:C16.4 ICD9CM:151.1 NCI:C188051 SNOMEDCT_US_2023_03_01:187736009 UMLS_CUI:C0153418 Ca pylorus - stomach malignant neoplasm of Prepylorus malignant neoplasm of pylorus of stomach malignant tumor of pylorus disease_ontology DOID:10544 pylorus cancer DOID:10544 An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue. DOID:10546 disease_ontology DOID:10545 obsolete coxsackievirus infectious disease true DOID:10545 An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue. url:http://en.wikipedia.org/wiki/Coxsackievirus ICD10CM:C16.3 ICD9CM:151.2 SNOMEDCT_US_2023_03_01:93976007 UMLS_CUI:C0153419 malignant neoplasm of antrum of stomach malignant tumor of pyloric antrum disease_ontology DOID:10547 pyloric antrum cancer DOID:10547 A cancer located_in the gastric cardia. ICD10CM:C16.0 ICD9CM:151.0 SNOMEDCT_US_2023_03_01:187732006 UMLS_CUI:C0153417 Ca cardia - stomach malignant neoplasm of cardia of stomach disease_ontology DOID:10548 cardia cancer DOID:10548 A cancer located_in the gastric cardia. url:https://pubmed.ncbi.nlm.nih.gov/33758614 Diabetes mellitus juvenile type, not stated as uncontrolled, with ophthalmic manifestations Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with ophthalmic manifestations disease_ontology DOID:10549 obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with ophthalmic manifestations true DOID:10549 Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes disease_ontology DOID:1055 obsolete glaucoma associated with congenital anomalies, dystrophies and systemic syndromes true DOID:1055 A otosalpingitis with a sudden onset and a short course. ICD10CM:H68.01 ICD9CM:381.51 SNOMEDCT_US_2023_03_01:194268005 UMLS_CUI:C0155429 acute eustachian tube salpingitis disease_ontology DOID:10550 acute eustachian salpingitis DOID:10550 A otosalpingitis with a sudden onset and a short course. url:http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures. Encephalitis due to acquired toxoplasmosis Meningoencephalitis due to acquired toxoplasmosis (disorder) Meningoencephalitis due to toxoplasmosis Toxoplasma encephalitis Toxoplasma encephalitis (disorder) disease_ontology DOID:10551 obsolete cerebral toxoplasmosis true DOID:10551 A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures. url:http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh A central nervous system disease that involves encephalitis which occurs along with meningitis. ICD10CM:A69.22 MESH:D008590 NCI:C34813 SNOMEDCT_US_2023_03_01:7125002 UMLS_CUI:C0025309 disease_ontology DOID:10554 meningoencephalitis DOID:10554 A central nervous system disease that involves encephalitis which occurs along with meningitis. url:http://en.wikipedia.org/wiki/Encephalitis A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. DOID:10555 DOID:12413 ICD9CM:669.20 UMLS_CUI:C0157456 antepartum maternal hypotension syndrome postpartum maternal hypotension syndrome disease_ontology DOID:10556 supine hypotensive syndrome DOID:10556 A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. url:https://www.ncbi.nlm.nih.gov/pubmed/22537582 url:https://www.ncbi.nlm.nih.gov/pubmed/8164943 disease_ontology DOID:10557 obsolete maternal distress true DOID:10557 A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney. GARD:3295 ICD10CM:E72.03 MEDDRA:10051707 MESH:D009800 MIM:309000 NCI:C84940 ORDO:534 SNOMEDCT_US_2023_03_01:79385002 UMLS_CUI:C0028860 Lowe syndrome lowe oculocerebrorenal syndrome oculocerebrorenal syndrome of Lowe disease_ontology DOID:1056 OMIM mapping confirmed by DO. [SN]. oculocerebrorenal syndrome DOID:1056 A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney. url:https://ghr.nlm.nih.gov/condition/lowe-syndrome url:https://www.omim.org/entry/309000 hyperkeratosis due to yaws hyperkeratosis of yaws (disorder) disease_ontology DOID:10561 obsolete yaws hyperkeratosis true DOID:10561 A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue. Gangosa Gangosa of yaws (disorder) Rhinopharyngitis mutilans disease_ontology DOID:10564 obsolete gangosa of yaws true DOID:10564 A late yaws that involves destruction of the bone and cartilage of the nose. This is caused by the spirochete bacterium, Treponema pallidum pertenue. url:http://en.wikipedia.org/wiki/Yaws A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis. DOID:10370 DOID:10562 ICD10CM:A66.1 ICD10CM:A66.4 ICD9CM:102.1 ICD9CM:102.4 NCI:C41354 SNOMEDCT_US_2023_03_01:186968004 UMLS_CUI:C0153234 UMLS_CUI:C0276007 UMLS_CUI:C1517744 Gummata and ulcers due to yaws Gummata of yaws Ulcers of yaws Yaws gummata and ulcers gummatous frambeside multiple papillomata due to yaws and wet crab yaws nodular late yaws disease_ontology DOID:10567 late yaws DOID:10567 A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis. url:https://www.who.int/neglected_diseases/diseases/yaws/en/ A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur. DOID:10563 DOID:10565 ICD10CM:A66.0 ICD10CM:A66.6 ICD9CM:102.0 ICD9CM:102.6 NCI:C41352 SNOMEDCT_US_2023_03_01:23191004 SNOMEDCT_US_2023_03_01:266147005 SNOMEDCT_US_2023_03_01:49442000 UMLS_CUI:C0275990 UMLS_CUI:C0275998 UMLS_CUI:C0343834 Frambesia, initial or primary Initial frambesial ulcer Initial lesions of yaws bone and joint lesions due to yaws bone and joint yaws lesion chancre of yaws primary frambesia disease_ontology DOID:10568 early yaws DOID:10568 A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur. url:http://www.who.int/mediacentre/factsheets/fs316/en/ Critical illness myopathy disease_ontology DOID:10569 obsolete myopathy of critical illness true DOID:10569 disease_ontology DOID:1057 obsolete inborn amino acid transport disorder true DOID:1057 A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. GARD:7285 ICD9CM:268.2 NCI:C26838 SNOMEDCT_US_2023_03_01:190639009 UMLS_CUI:C0029442 disease_ontology DOID:10573 osteomalacia MESH:D010018 DOID:10573 A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. url:http://en.wikipedia.org/wiki/Osteomalacia url:http://my.clevelandclinic.org/disorders/osteomalacia/hic_osteomalacia.aspx url:http://www.mayoclinic.com/health/osteomalacia/DS00935 url:http://www.nlm.nih.gov/medlineplus/ency/article/000376.htm url:http://www.wheelessonline.com/ortho/osteomalacia Avitaminosis D Avitaminosis D NOS (disorder) Unspecified vitamin D deficiency deficiency of vitamin D (disorder) vitamin D deficiency vitamin D deficiency (disorder) disease_ontology DOID:10574 obsolete vitamin D deficiency true DOID:10574 ICD10CM:E83.5 ICD9CM:275.4 MESH:D002128 SNOMEDCT_US_2023_03_01:267442002 UMLS_CUI:C0006705 disease_ontology DOID:10575 calcium metabolism disease DOID:10575 A cerebral degeneration characterized by dysfunction of the white matter of the brain. GARD:6895 ICD9CM:330.0 NCI:C61253 SNOMEDCT_US_2023_03_01:5101009 UMLS_CUI:C0023520 disease_ontology DOID:10579 leukodystrophy DOID:10579 A cerebral degeneration characterized by dysfunction of the white matter of the brain. url:http://en.wikipedia.org/wiki/Leukodystrophy Disturbances of amino-acid transport disease_ontology DOID:1058 obsolete amino acid transport disease true DOID:1058 A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. GARD:3230 ICD10CM:E75.25 MESH:D007966 MIM:249900 MIM:250100 NCI:C61251 ORDO:512 SNOMEDCT_US_2023_03_01:3621006 UMLS_CUI:C0023522 MLD Scholz cerebral sclerosis arylsulfatase A deficiency deficiency of cerebroside-sulfatase sulfatide lipoidosis disease_ontology DOID:10581 Xref MGI. OMIM mapping confirmed by DO. [SN]. metachromatic leukodystrophy DOID:10581 A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. url:http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy url:http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy MLD A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. GARD:5691 ICD10CM:G60.1 ICD9CM:356.3 MESH:D012035 MIM:266500 NCI:C85043 ORDO:773 SNOMEDCT_US_2023_03_01:25362006 UMLS_CUI:C0034960 HMSN type IV HSMN IV Heredopathia atactica polyneuritiformis Refsum's disease adult Refsum disease classic Refsum disease phytanic acid oxidase deficiency disease_ontology DOID:10582 OMIM mapping confirmed by DO. [SN]. Refsum disease DOID:10582 A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. url:https://en.wikipedia.org/wiki/Refsum_disease url:https://medlineplus.gov/genetics/condition/refsum-disease/ url:https://pubmed.ncbi.nlm.nih.gov/30578512/ url:https://rarediseases.org/rare-diseases/refsum-disease/ HSMN IV A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. DOID:14742 GARD:5694 ICD10CM:H35.52 MESH:C538365 MESH:D012174 MIM:268000 MIM:PS268000 NCI:C85045 ORDO:791 SNOMEDCT_US_2023_03_01:155113002 UMLS_CUI:C0035334 UMLS_CUI:C0220701 pericentral pigmentary retinopathy disease_ontology DOID:10584 Xref MGI. OMIM mapping confirmed by DO. [LS]. retinitis pigmentosa DOID:10584 A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. url:http://en.wikipedia.org/wiki/Retinitis_pigmentosa url:http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/ url:https://www.genome.gov/Genetic-Disorders/Retinitis-Pigmentosa disease_ontology DOID:10585 obsolete hereditary and idiopathic peripheral neuropathy true DOID:10585 GARD:6844 ICD10CM:E75.23 MESH:D007965 MIM:245200 NCI:C61254 SNOMEDCT_US_2023_03_01:192782005 UMLS_CUI:C0023521 Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy disease_ontology DOID:10587 OMIM mapping confirmed by DO. [SN]. Krabbe disease DOID:10587 A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. DOID:13451 ICD10CM:E71.52 MESH:D000326 MIM:300100 NCI:C61252 SNOMEDCT_US_2023_03_01:65389002 UMLS_CUI:C0162309 ALD Bronze Schilder disease Encephalitis periaxialis concentrica Encephalitis periaxialis, Schilder's Siemerling-Creutzfeldt Disease X-linked adrenoleukodystrophy diffuse sclerosis sudanophilic cerebral sclerosis disease_ontology DOID:10588 MESH:D000326w added from NeuroDevNet [WAK]. adrenoleukodystrophy MESH:D000326 DOID:10588 A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. url:http://en.wikipedia.org/wiki/Adrenoleukodystrophy url:https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy ALD A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. NCI:C84392 SNOMEDCT_US_2023_03_01:1855002 UMLS_CUI:C0025362 disease_ontology mental retardation DOID:1059 OMIM mapping submitted by NeuroDevNet. [LS]. intellectual disability DOID:1059 A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. url:http://aaidd.org/intellectual-disability/definition#.WsPDT2VvqaU url:https://en.wikipedia.org/wiki/Intellectual_disability A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. ICD9CM:642.40 UMLS_CUI:C0156664 disease_ontology DOID:10590 mild pre-eclampsia DOID:10590 A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. url:https://www.britannica.com/science/mild-preeclampsia A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. DOID:12684 ICD10CM:O14 MESH:D011225 MIM:189800 MIM:609402 MIM:609403 MIM:609404 MIM:614592 NCI:C85021 ORDO:275555 SNOMEDCT_US_2023_03_01:6758009 UMLS_CUI:C0032914 gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy disease_ontology DOID:10591 Xref MGI. OMIM mapping confirmed by DO. [SN]. pre-eclampsia DOID:10591 A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. url:http://en.wikipedia.org/wiki/Pre-eclampsia url:http://ghr.nlm.nih.gov/condition/preeclampsia url:https://www.ncbi.nlm.nih.gov/pubmed/24400024 ICD9CM:356.4 SNOMEDCT_US_2023_03_01:193164007 UMLS_CUI:C0154756 disease_ontology DOID:10593 idiopathic progressive polyneuropathy DOID:10593 Unspecified idiopathic peripheral neuropathy disease_ontology DOID:10594 obsolete idiopathic neuropathy true DOID:10594 A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. GARD:6034 ICD10CM:G60.0 ICD9CM:356.1 MESH:D002607 MIM:PS118220 NCI:C75467 SNOMEDCT_US_2023_03_01:193158000 UMLS_CUI:C0007959 CMT - Charcot-Marie-Tooth disease disease_ontology DOID:10595 Charcot-Marie-Tooth disease DOID:10595 A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. url:https://www.genome.gov/11009201 url:https://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease Gonococcal meningitis (disorder) disease_ontology DOID:10597 obsolete gonococcal meningitis true DOID:10597 An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. DOID:12624 ICD10CM:A15.6 ICD9CM:010.1 ICD9CM:012.0 MESH:D014396 NCI:C26898 SNOMEDCT_US_2023_03_01:186172004 SNOMEDCT_US_2023_03_01:68706009 UMLS_CUI:C0041326 UMLS_CUI:C0152531 Pearly disease Tuberculosis of pleura Tuberculous pleurisy Tuberculous pleuritis tuberculous pleurisy in primary progressive tuberculosis disease_ontology DOID:106 pleural tuberculosis DOID:106 An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. url:https://www.ncbi.nlm.nih.gov/pubmed/17426219 An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. GARD:6569 ICD10CM:E72.02 MESH:D006250 MIM:234500 NCI:C84748 SNOMEDCT_US_2023_03_01:80902009 UMLS_CUI:C0018609 Neutral 1 amino acid transport defect deficiency of tryptophan oxygenase neutral amino acid transport defect disease_ontology DOID:1060 OMIM mapping confirmed by DO. [SN]. Hartnup disease DOID:1060 An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. url:https://www.merriam-webster.com/medical/Hartnup A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year. ICD10CM:F95.1 ICD9CM:307.22 MESH:D013981 NCI:C116768 SNOMEDCT_US_2023_03_01:192623005 UMLS_CUI:C0008701 chronic motor or vocal tic disorder disease_ontology DOID:10600 chronic tic disorder DOID:10600 A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year. url:http://en.wikipedia.org/wiki/Tic_disorder disease_ontology DOID:10602 doid/symp duplicate - moved to Symptom Ontology obsolete steatorrhea true DOID:10602 ICD10CM:R73.03 MESH:D018149 NCI:C34646 SNOMEDCT_US_2023_03_01:267426009 UMLS_CUI:C0271650 Glucose malabsorption Malabsorption of glucose disease_ontology DOID:10603 glucose intolerance DOID:10603 A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose. ICD10CM:E73 MESH:D007787 MIM:223100 NCI:C3154 SNOMEDCT_US_2023_03_01:267497007 UMLS_CUI:C0022951 LM - Lactose malabsorption disease_ontology DOID:10604 OMIM mapping confirmed by DO. [SN]. lactose intolerance MESH:D007787 DOID:10604 A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose. url:https://medlineplus.gov/genetics/condition/lactose-intolerance/ An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine. MESH:D012778 NCI:C99059 SNOMEDCT_US_2023_03_01:204768009 UMLS_CUI:C0036992 acquired short bowel syndrome short gut syndrome disease_ontology DOID:10605 short bowel syndrome DOID:10605 An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine. url:https://rarediseases.org/rare-diseases/short-bowel-syndrome/ An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption. ICD10CM:K90.2 ICD9CM:579.2 MESH:D001765 NCI:C34431 SNOMEDCT_US_2023_03_01:77225009 UMLS_CUI:C0005750 Bacterial overgrowth syndrome disease_ontology DOID:10606 blind loop syndrome DOID:10606 An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption. url:https://en.wikipedia.org/wiki/Blind_loop_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/20572300 GARD:7824 ICD10CM:K90.1 ICD9CM:579.1 MESH:D013182 NCI:C45428 SNOMEDCT_US_2023_03_01:155846005 UMLS_CUI:C0038054 Sprue - tropical Tropical steatorrhea disease_ontology DOID:10607 tropical sprue DOID:10607 An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. EFO:0001060 GARD:11998 ICD10CM:K90.0 ICD9CM:579.0 MESH:D002446 MIM:607202 MIM:609754 MIM:611598 MIM:612005 MIM:612006 MIM:612007 MIM:612008 MIM:612009 MIM:612011 NCI:C26714 ORDO:555 SNOMEDCT_US_2023_03_01:197477005 UMLS_CUI:C0007570 celiac sprue coeliac disease idiopathic steatorrhea disease_ontology DOID:10608 Xref MGI. OMIM mapping confirmed by DO. [SN]. celiac disease DOID:10608 An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. url:http://en.wikipedia.org/wiki/Coeliac_disease url:http://www.celiac.org/ url:http://www.mayoclinic.com/health/celiac-disease/DS00319 url:http://www.nlm.nih.gov/medlineplus/ency/article/000233.htm url:https://www.niddk.nih.gov/health-information/digestive-diseases/celiac-disease A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone. DOID:11672 GARD:5700 ICD10CM:E55.0 MESH:D012279 NCI:C26878 SNOMEDCT_US_2023_03_01:190639009 UMLS_CUI:C0035579 active rickets disease_ontology DOID:10609 Xref MGI. rickets MESH:D012279 DOID:10609 A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone. url:http://en.wikipedia.org/wiki/Rickets url:http://www.mayoclinic.com/health/rickets/DS00813 url:http://www.nlm.nih.gov/medlineplus/ency/article/000344.htm url:http://www.umm.edu/ency/article/000344.htm url:https://en.wikipedia.org/wiki/Rickets#Types url:https://www.ncbi.nlm.nih.gov/pubmed/26365554 inborn renal aminoaciduria disease_ontology DOID:1061 obsolete renal aminoaciduria true DOID:1061 ICD10CM:K90.3 ICD9CM:579.4 SNOMEDCT_US_2023_03_01:155845009 UMLS_CUI:C0152166 pancreatic steatorrhoea disease_ontology DOID:10610 pancreatic steatorrhea DOID:10610 MESH:D011504 MIM:226300 SNOMEDCT_US_2023_03_01:66972006 UMLS_CUI:C0033680 Enteropathy, exudative Exudative enteropathy disease_ontology DOID:10611 OMIM mapping confirmed by DO. [SN]. protein-losing enteropathy DOID:10611 An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction. ICD10CM:L50.0 ICD9CM:708.0 SNOMEDCT_US_2023_03_01:201260002 UMLS_CUI:C0149526 disease_ontology DOID:10612 allergic urticaria DOID:10612 An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction. url:https://www.aafp.org/afp/2017/0601/p717.html An acute cervicitis that is caused by gonorrhea. ICD9CM:098.15 SNOMEDCT_US_2023_03_01:20943002 UMLS_CUI:C0153195 Gonococcal cervicitis acute gonorrhea of cervix disease_ontology DOID:10615 acute gonococcal cervicitis DOID:10615 An acute cervicitis that is caused by gonorrhea. url:https://www.mayoclinic.org/diseases-conditions/cervicitis/symptoms-causes/syc-20370814 A cervicitis that is characterized by onset within the past 1 - 3 days. NCI:C27056 SNOMEDCT_US_2023_03_01:19272000 UMLS_CUI:C0269061 disease_ontology DOID:10616 acute cervicitis DOID:10616 A cervicitis that is characterized by onset within the past 1 - 3 days. url:https://www.ncbi.nlm.nih.gov/pubmed/23606387 A lymphatic system cancer that is located_in the lymph node. DOID:10438 GARD:6932 NCI:C35497 SNOMEDCT_US_2023_03_01:127232002 UMLS_CUI:C0596869 lymph node neoplasm disease_ontology DOID:10619 lymph node cancer DOID:10619 A lymphatic system cancer that is located_in the lymph node. url:https://www.mountsinai.org/health-library/special-topic/cancer-and-lymph-nodes A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. DOID:5956 GARD:9118 MESH:D005198 MIM:PS134600 NCI:C3034 NCI:C4377 ORDO:3337 SNOMEDCT_US_2023_03_01:236468006 SNOMEDCT_US_2023_03_01:40488004 UMLS_CUI:C0015624 UMLS_CUI:C0341703 Congenital Fanconi syndrome De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome disease_ontology DOID:1062 Xref MGI. OMIM mapping confirmed by DO. [SN]. Fanconi syndrome MESH:D005198 DOID:1062 A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. url:http://en.wikipedia.org/wiki/Fanconi_syndrome url:http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html url:http://www.nlm.nih.gov/medlineplus/ency/article/000333.htm disease_ontology DOID:10621 obsolete Fissure of nipple associated with childbirth true DOID:10621 Juvenile type diabetes mellitus, uncontrolled, with ketoacidosis type I diabetes mellitus [juvenile type], uncontrolled, with ketoacidosis disease_ontology DOID:10626 obsolete insulin dependent type diabetes mellitus uncontrolled with ketoacidosis true DOID:10626 ICD10CM:H47.21 ICD9CM:377.11 SNOMEDCT_US_2023_03_01:21098003 UMLS_CUI:C0155291 disease_ontology DOID:10627 primary optic atrophy DOID:10627 An eye disease where one or both eyeballs are abnormally small. DOID:10650 GARD:12085 ICD10CM:Q11.2 ICD9CM:743.1 MESH:D008850 NCI:C98989 SNOMEDCT_US_2023_03_01:156902006 UMLS_CUI:C0026010 microphthalmos simple microphthalmos disease_ontology DOID:10629 Xref MGI. OMIM mapping confirmed by DO. [SN]. microphthalmia DOID:10629 An eye disease where one or both eyeballs are abnormally small. url:http://en.wikipedia.org/wiki/Microphthalmia url:http://ghr.nlm.nih.gov/condition/microphthalmia ICD10CM:N12 MESH:D009395 NCI:C26834 SNOMEDCT_US_2023_03_01:28689008 UMLS_CUI:C0027707 renal tubulo-interstitial disease disease_ontology DOID:1063 interstitial nephritis DOID:1063 optic atrophy associated with retinal dystrophies optic atrophy associated with retinal dystrophy (disorder) disease_ontology DOID:10630 obsolete optic atrophy associated with retinal dystrophy true DOID:10630 ICD9CM:377.15 SNOMEDCT_US_2023_03_01:194044005 UMLS_CUI:C0155295 disease_ontology DOID:10631 partial optic atrophy DOID:10631 A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness. GARD:7898 MESH:D014929 NCI:C35133 ORDO:3463 SNOMEDCT_US_2023_03_01:70694009 UMLS_CUI:C0043207 WFS disease_ontology DOID:10632 OMIM mapping confirmed by DO. [LS]. Wolfram syndrome DOID:10632 A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness. url:http://en.wikipedia.org/wiki/Wolfram_syndrome WFS A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17. GARD:6236 MESH:D003554 MIM:219750 MIM:219800 MIM:219900 NCI:C129932 ORDO:213 SNOMEDCT_US_2023_03_01:62332007 UMLS_CUI:C2931187 cystine storage disease disease_ontology DOID:1064 cystinosis DOID:1064 A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17. url:http://ghr.nlm.nih.gov/condition/cystinosis url:https://en.wikipedia.org/wiki/Cystinosis url:https://www.ncbi.nlm.nih.gov/pubmed/12110740 disease_ontology DOID:10645 obsolete chronic state latent schizophrenia with acute exacerbation true DOID:10645 A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs. ICD10CM:F21 ICD9CM:301.22 MESH:D012569 NCI:C92632 SNOMEDCT_US_2023_03_01:231486008 UMLS_CUI:C0036363 disease_ontology DOID:10646 schizotypal personality disorder DOID:10646 A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs. url:http://en.wikipedia.org/wiki/Schizotypal_personality_disorder ICD9CM:410.30 UMLS_CUI:C0155640 disease_ontology DOID:10648 acute inferoposterior infarction DOID:10648 ICD9CM:410.20 UMLS_CUI:C0155636 disease_ontology DOID:10649 acute inferolateral myocardial infarction DOID:10649 ICD9CM:410.0 SNOMEDCT_US_2023_03_01:70211005 UMLS_CUI:C0155627 disease_ontology DOID:10651 acute anterolateral myocardial infarction DOID:10651 A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. GARD:10254 ICD10CM:G30 ICD9CM:331.0 KEGG:05010 MESH:D000544 NCI:C2866 SNOMEDCT_US_2023_03_01:73768007 UMLS_CUI:C0002395 Alzheimer disease Alzheimers dementia disease_ontology DOID:10652 Xref MGI. OMIM mapping confirmed by DO. [SN]. Alzheimer's disease DOID:10652 A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. url:http://en.wikipedia.org/wiki/Alzheimer%27s_disease url:http://www.merriam-webster.com/medical/alzheimer%27s%20disease url:http://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-fact-sheet ls:IEDB NCI:C5493 UMLS_CUI:C0940607 Colonic Lipoma disease_ontology DOID:10655 lipoma of colon DOID:10655 NCI:C5492 UMLS_CUI:C1333092 Colonic leiomyoma disease_ontology DOID:10656 colon leiomyoma DOID:10656 NCI:C5500 UMLS_CUI:C1333094 Lymphangioma of colon disease_ontology DOID:10657 colonic lymphangioma DOID:10657 disease_ontology DOID:10659 obsolete colonic ganglioneuroma true DOID:10659 ICD10CM:H40.15 ICD9CM:365.15 SNOMEDCT_US_2023_03_01:66990007 UMLS_CUI:C0154944 Open-angle glaucoma residual stage disease_ontology DOID:1066 residual stage of open angle glaucoma DOID:1066 A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells. NCI:C6628 UMLS_CUI:C1334673 neuroblastoma of mediastinum disease_ontology DOID:10660 mediastinum neuroblastoma DOID:10660 A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells. url:http://www.cancer.gov/dictionary?CdrID=45418 NCI:C6627 UMLS_CUI:C1334653 Ganglioneuroblastoma of mediastinum disease_ontology DOID:10661 mediastinum ganglioneuroblastoma DOID:10661 A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. EFO:0004190 ICD10CM:H40.1 ICD9CM:365.1 MESH:D005902 MIM:137750 MIM:177700 MIM:602429 MIM:603383 MIM:606689 MIM:608695 MIM:608696 MIM:609745 MIM:609887 MIM:610535 MIM:611274 MIM:611276 MIM:613100 NCI:C34641 SNOMEDCT_US_2023_03_01:84494001 UMLS_CUI:C0017612 Wide-angle glaucoma glaucoma simplex open angle glaucoma pigmentary glaucoma disease_ontology DOID:1067 Xref MGI. open-angle glaucoma DOID:1067 A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. url:http://en.wikipedia.org/wiki/Glaucoma url:http://www.merckmanuals.com/professional/eye_disorders/glaucoma/primary_open-angle_glaucoma.html A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures. MIM:137750 ORDO:98977 Glaucoma of childhood disease_ontology DOID:1068 juvenile glaucoma DOID:1068 A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures. url:https://eyewiki.aao.org/Juvenile_open_angle_glaucoma url:https://ghr.nlm.nih.gov/condition/early-onset-glaucoma An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place. disease_ontology DOID:10685 separation anxiety disorder DOID:10685 An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place. url:http://en.wikipedia.org/wiki/Separation_anxiety_disorder A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands. ICD10CM:N64.89 ICD9CM:611.5 MESH:C535998 NCI:C3515 SNOMEDCT_US_2023_03_01:42385006 UMLS_CUI:C0152243 Galactocele disease_ontology DOID:10686 lactocele DOID:10686 A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands. url:https://en.wikipedia.org/wiki/Galactocele A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue. ICD10CM:N62 ICD9CM:611.1 NCI:C3125 SNOMEDCT_US_2023_03_01:43336006 UMLS_CUI:C0020565 breasts enlarged large breast disease_ontology DOID:10688 hypertrophy of breast DOID:10688 A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue. url:https://en.wikipedia.org/wiki/Breast_hypertrophy GALACTORRHEA Galactorrhea due to non-obstetric cause (disorder) Galactorrhea not associated with childbirth (disorder) Galactorrhoea disease_ontology DOID:10689 obsolete galactorrhea not associated with childbirth true DOID:10689 A breast disease characterized by painful infection of the breast tissue. MESH:D008413 NCI:C53662 SNOMEDCT_US_2023_03_01:155952005 UMLS_CUI:C0024894 Inflammatory breast disease Inflammatory disease of breast breast inflammation disease_ontology DOID:10690 mastitis DOID:10690 A breast disease characterized by painful infection of the breast tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/25940456 A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury. ICD10CM:N64.1 ICD9CM:611.3 NCI:C3661 SNOMEDCT_US_2023_03_01:21381006 UMLS_CUI:C0156321 breast Fat necrosis disease_ontology DOID:10691 fat necrosis of breast DOID:10691 A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury. url:https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/fat-necrosis-and-oil-cysts-in-the-breast.html ICD9CM:360.03 SNOMEDCT_US_2023_03_01:193269007 UMLS_CUI:C0154774 disease_ontology DOID:10697 chronic endophthalmitis DOID:10697 A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected. GARD:9815 ICD10CM:B66.4 ICD9CM:121.2 MESH:D010237 NCI:C84995 SNOMEDCT_US_2023_03_01:30369007 UMLS_CUI:C0030424 Infection by Paragonimus lung fluke disease lung fluke infection pulmonary paragonimiasis disease_ontology DOID:10699 paragonimiasis DOID:10699 A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected. url:http://www.dpd.cdc.gov/dpdx/HTML/Paragonimiasis.htm An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure. ICD10CM:H40.11 ICD9CM:365.11 MESH:D005902 MIM:137760 NCI:C35394 SNOMEDCT_US_2023_03_01:77075001 UMLS_CUI:C0339573 chronic simple glaucoma disease_ontology DOID:1070 OMIM mapping confirmed by DO. [SN]. primary open angle glaucoma DOID:1070 An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464971/ Passive-aggressive personality disease_ontology passive-aggressive personality disorder DOID:10708 obsolete passive-aggressive personality disorder true DOID:10708 Meningococcal septicaemia Meningococcemia Meningococcemia (disorder) Meningococcemia, unspecified (disorder) disease_ontology DOID:10717 obsolete meningococcal septicemia true DOID:10717 A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting. ICD10CM:A07.1 ICD9CM:007.1 MEDDRA:0017536 MESH:D005873 SNOMEDCT_US_2023_03_01:266176008 UMLS_CUI:C0017536 Infection by Giardia lamblia beaver feaver disease_ontology DOID:10718 giardiasis DOID:10718 A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting. url:http://en.wikipedia.org/wiki/Giardiasis url:http://www.dpd.cdc.gov/DPDx/HTML/Giardiasis.htm GARD:6549 ICD9CM:242.00 UMLS_CUI:C0154138 disease_ontology DOID:10719 toxic diffuse goiter DOID:10719 MESH:D006977 NCI:C3121 SNOMEDCT_US_2023_03_01:194775007 UMLS_CUI:C0020544 disease_ontology DOID:1073 renal hypertension DOID:1073 A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs. disease_ontology DOID:10731 obsolete nodular lung tuberculosis true DOID:10731 A pulmonary tuberculosis presenting as multiple bilateral large nodules in the lungs. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801923/pdf/canmedaj01136-0061.pdf A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. ICD10CM:N19 ICD9CM:586 MESH:D051437 NCI:C4376 SNOMEDCT_US_2023_03_01:42399005 UMLS_CUI:C0035078 renal failure disease_ontology DOID:1074 PRISM. kidney failure DOID:1074 A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. url:http://en.wikipedia.org/wiki/Renal_failure url:http://www.nlm.nih.gov/medlineplus/kidneyfailure.html ICD9CM:330.1 SNOMEDCT_US_2023_03_01:16517004 UMLS_CUI:C0007788 disease_ontology DOID:10742 cerebral lipidosis DOID:10742 A uterine adnexa cancer that is located_in the broad ligament. ICD10CM:C57.1 ICD9CM:183.3 NCI:C179934 SNOMEDCT_US_2023_03_01:93728003 UMLS_CUI:C0346866 malignant neoplasm of broad ligament of uterus disease_ontology DOID:10744 broad ligament malignant neoplasm DOID:10744 A uterine adnexa cancer that is located_in the broad ligament. url:https://www.ncbi.nlm.nih.gov/pubmed/26140828 disease_ontology DOID:10747 obsolete lymphoid leukemia true DOID:10747 disease_ontology DOID:1075 obsolete chronic pyelonephritis with lesion of renal medullary necrosis true DOID:1075 A otitis which involves inflammation of the middle ear. ICD10CM:H66.9 ICD9CM:382.9 MESH:D010033 NCI:C34885 SNOMEDCT_US_2023_03_01:65363002 UMLS_CUI:C0029882 disease_ontology DOID:10754 otitis media DOID:10754 A otitis which involves inflammation of the middle ear. url:http://en.wikipedia.org/wiki/Otitis_media An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone. DOID:14013 DOID:14014 ICD10CM:H70.2 ICD10CM:H70.21 ICD10CM:H70.22 ICD9CM:383.2 ICD9CM:383.21 ICD9CM:383.22 MESH:D059270 SNOMEDCT_US_2023_03_01:155233009 SNOMEDCT_US_2023_03_01:28593007 SNOMEDCT_US_2023_03_01:51211002 UMLS_CUI:C0155448 UMLS_CUI:C0155449 UMLS_CUI:C0155450 acute petrositis chronic petrositis disease_ontology inflammation of petrous bone DOID:10755 petrositis DOID:10755 An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone. url:http://medical-dictionary.thefreedictionary.com/petrositis url:http://www.nlm.nih.gov/medlineplus/ency/article/001254.htm ICD10CM:N11 ICD9CM:590.0 NCI:C123216 SNOMEDCT_US_2023_03_01:123293005 UMLS_CUI:C0085697 disease_ontology DOID:1076 chronic pyelonephritis DOID:1076 Choroidal rupture (disorder) disease_ontology DOID:10760 obsolete choroidal rupture true DOID:10760 GARD:8229 ICD10CM:K76.6 ICD9CM:572.3 MESH:D006975 NCI:C3119 SNOMEDCT_US_2023_03_01:155821005 UMLS_CUI:C0020541 disease_ontology DOID:10762 portal hypertension DOID:10762 An artery disease characterized by chronic elevated blood pressure in the arteries. EFO:0000537 ICD10CM:I10 ICD9CM:401-405.99 MESH:D006973 NCI:C3117 SNOMEDCT_US_2023_03_01:38341003 UMLS_CUI:C0020538 HTN hyperpiesia vascular hypertensive disorder disease_ontology hypertensive disease DOID:10763 hypertension DOID:10763 An artery disease characterized by chronic elevated blood pressure in the arteries. url:https://en.wikipedia.org/wiki/Hypertension url:https://www.ncbi.nlm.nih.gov/pubmed/24352797 HTN disease_ontology DOID:10764 obsolete liver abscess and sequelae of chronic liver disease true DOID:10764 A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida. DOID:11679 filarial infectious disease and dracontiasis disease_ontology DOID:1077 obsolete Spirurida infectious disease true DOID:1077 A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Spirurida. url:http://en.wikipedia.org/wiki/Spirurida GARD:9430 ICD10CM:M31.19 MESH:D011697 MIM:274150 NCI:C78797 SNOMEDCT_US_2023_03_01:360402008 UMLS_CUI:C0034155 Moschcowitz's syndrome disease_ontology DOID:10772 thrombotic thrombocytopenic purpura DOID:10772 A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration. DOID:0050068 GARD:183 ICD10CM:A20.0 ICD9CM:020.0 MESH:D010930 SNOMEDCT_US_2023_03_01:50797007 UMLS_CUI:C0282312 black death disease_ontology DOID:10773 bubonic plague DOID:10773 A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration. url:https://en.wikipedia.org/wiki/Bubonic_plague cellulocutaneous plague cellulocutaneous plague (disorder) disease_ontology DOID:10774 obsolete cutaneous plague true DOID:10774 ICD10CM:I40.1 ICD9CM:422.91 SNOMEDCT_US_2023_03_01:194954007 UMLS_CUI:C0155689 Idiopathic myocarditis Isolated (Fiedler's) myocarditis fiedler myocarditis disease_ontology DOID:10778 fiedler's myocarditis DOID:10778 An acute myocarditis that is characterized by an underlying infectious insult to the myocardium that induces acute inflammation. ICD10CM:I40.0 ICD9CM:422.92 SNOMEDCT_US_2023_03_01:64043005 UMLS_CUI:C0155690 disease_ontology DOID:10779 septic myocarditis DOID:10779 An acute myocarditis that is characterized by an underlying infectious insult to the myocardium that induces acute inflammation. url:https://www.ncbi.nlm.nih.gov/pubmed/27574633 A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands. DOID:4192 secernentea infectious disease disease_ontology DOID:1078 obsolete Chromadorea infectious disease true DOID:1078 A Nematoda infectious disease that involves infection by parasitic worms of the class Chromadorea, characterized by body annules, elaborated and spiral amphids, and three esophageal glands. url:http://en.wikipedia.org/wiki/Chromadoria A polycythemia that has_material_basis_in factors intrinsic to red cell precursors. ICD10CM:D75.0 ICD9CM:289.6 MIM:PS133100 NCI:C26955 SNOMEDCT_US_2023_03_01:267571003 UMLS_CUI:C0152264 Familiar Polycythemia familial erythrocytosis disease_ontology DOID:10780 primary polycythemia DOID:10780 A polycythemia that has_material_basis_in factors intrinsic to red cell precursors. url:https://en.wikipedia.org/wiki/Polycythemia#Primary_polycythemia ICD10CM:I88.0 ICD9CM:289.2 MESH:D008640 NCI:C26830 SNOMEDCT_US_2023_03_01:191376006 UMLS_CUI:C0025469 Mesenteric adenitis disease_ontology DOID:10782 mesenteric lymphadenitis DOID:10782 ICD10CM:D74 ICD9CM:289.7 MESH:D008708 NCI:C34817 SNOMEDCT_US_2023_03_01:191386007 UMLS_CUI:C0025637 disease_ontology DOID:10783 methemoglobinemia DOID:10783 A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy. DOID:0050038 Australian tick typhus Rickettsia australis spotted fever disease_ontology North Queensland tick typhus DOID:10784 Queensland tick typhus DOID:10784 A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy. url:http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_australis_%28Queensland_tick_typhus%29 url:http://www.cdc.gov/otherspottedfever/index.html An ovarian dysfunction that is the loss of normal ovarian function before age 40. ICD10CM:E28.31 ICD9CM:256.31 MESH:D008594 NCI:C80099 SNOMEDCT_US_2023_03_01:154713003 UMLS_CUI:C0025322 Menopause - premature Menopause praecox disease_ontology DOID:10787 premature menopause DOID:10787 An ovarian dysfunction that is the loss of normal ovarian function before age 40. url:https://www.ncbi.nlm.nih.gov/pubmed/26316242 Focal sclerosing osteomyelitis Sclerosing osteitis disease_ontology DOID:10788 obsolete osteitis condensans true DOID:10788 A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria. MESH:D012719 SNOMEDCT_US_2023_03_01:4414005 UMLS_CUI:C0036850 Infectious Disease by Setaria disease_ontology DOID:1079 setariasis DOID:1079 A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria. url:http://www.jstor.org/stable/pdfplus/3277411.pdf A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage. ICD10CM:J32.1 ICD9CM:473.1 NCI:C34473 SNOMEDCT_US_2023_03_01:155527004 UMLS_CUI:C0008683 disease_ontology DOID:10790 chronic frontal sinusitis DOID:10790 A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead. ICD10CM:J32.1 MESH:D015522 NCI:C34626 SNOMEDCT_US_2023_03_01:275485006 UMLS_CUI:C0016735 disease_ontology DOID:10791 frontal sinusitis DOID:10791 A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html url:http://www3.niaid.nih.gov/topics/sinusitis/overview.htm A maxillary sinusitis which lasts for 12 weeks or more. ICD10CM:J32.0 ICD9CM:473.0 NCI:C34477 SNOMEDCT_US_2023_03_01:195785003 UMLS_CUI:C0008698 chronic antritis disease_ontology DOID:10792 chronic maxillary sinusitis DOID:10792 A maxillary sinusitis which lasts for 12 weeks or more. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html A sphenoid sinusitis which lasts for 12 weeks or more. ICD10CM:J32.3 ICD9CM:473.3 NCI:C34480 SNOMEDCT_US_2023_03_01:155528009 UMLS_CUI:C0008712 Sphenoidal sinus-chr. disease_ontology DOID:10793 chronic sphenoidal sinusitis DOID:10793 A sphenoid sinusitis which lasts for 12 weeks or more. url:http://en.wikipedia.org/wiki/sinusitis A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head. ICD10CM:J32.3 MESH:D015524 NCI:C35031 SNOMEDCT_US_2023_03_01:13266007 UMLS_CUI:C0037886 Sphenoidal sinusitis disease_ontology DOID:10794 sphenoid sinusitis DOID:10794 A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head. url:http://en.wikipedia.org/wiki/sinusitis Congenital syphilitic encephalitis (disorder) Encephalitis due to congenital syphilis disease_ontology DOID:10795 obsolete congenital syphilitic encephalitis true DOID:10795 A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. ICD10CM:B74 ICD9CM:125.9 MESH:D005368 NCI:C34611 SNOMEDCT_US_2023_03_01:50342004 UMLS_CUI:C0016085 disease due to superfamily Filarioidea disease_ontology DOID:1080 filariasis MESH:D005368 DOID:1080 A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. url:http://en.wikipedia.org/wiki/Filariasis ICD9CM:098.13 SNOMEDCT_US_2023_03_01:186912008 UMLS_CUI:C0153193 Gonococcal epididymo-orchitis disease_ontology DOID:10802 acute gonococcal epididymo-orchitis DOID:10802 Haemophilus meningitis (disorder) Hemophilus meningitis disease_ontology DOID:10803 obsolete Haemophilus influenzae meningitis true DOID:10803 DOID:10807 DOID:10809 DOID:12047 DOID:12057 DOID:12068 DOID:12069 DOID:12806 DOID:13124 DOID:13125 DOID:241 DOID:242 ICD10CM:K25 ICD9CM:531 MESH:D013276 NCI:C3388 SNOMEDCT_US_2023_03_01:155681009 UMLS_CUI:C0038358 acute gastric ulcer with haemorrhage and perforation acute gastric ulcer with hemorrhage AND with perforation but without obstruction acute gastric ulcer with hemorrhage and obstruction acute gastric ulcer with hemorrhage and perforation acute gastric ulcer with hemorrhage and perforation, with obstruction acute gastric ulcer with hemorrhage and perforation, without mention of obstruction acute gastric ulcer with hemorrhage, with obstruction acute gastric ulcer with hemorrhage, with perforation AND with obstruction acute gastric ulcer with perforation acute gastric ulcer with perforation AND obstruction acute gastric ulcer with perforation, with obstruction acute gastric ulcer without hemorrhage and without perforation acute gastric ulcer without hemorrhage, without perforation AND without obstruction acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction bleeding acute gastric ulcer chronic gastric ulcer without hemorrhage AND without perforation chronic gastric ulcer without hemorrhage AND without perforation but with obstruction chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction disease_ontology DOID:10808 gastric ulcer DOID:10808 A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies. GARD:8216 ICD10CM:B74.4 MESH:D008368 NCI:C84882 SNOMEDCT_US_2023_03_01:240849009 UMLS_CUI:C0024759 disease_ontology DOID:1081 mansonelliasis DOID:1081 A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies. url:http://en.wikipedia.org/wiki/Mansonelliasis ICD9CM:726.72 SNOMEDCT_US_2023_03_01:50127006 UMLS_CUI:C0158321 disease_ontology DOID:10810 tibialis tendinitis DOID:10810 A respiratory system cancer that is located_in the nasal cavity. ICD10CM:C30.0 ICD9CM:160.0 NCI:C4918 SNOMEDCT_US_2023_03_01:93917007 UMLS_CUI:C0728864 malignant neoplasm of nasal cavities malignant tumor of the nasal cavity disease_ontology DOID:10811 nasal cavity cancer DOID:10811 A respiratory system cancer that is located_in the nasal cavity. url:http://en.wikipedia.org/wiki/Nasal_cavity NCI:C7604 UMLS_CUI:C1334923 Olfactory neuroblastoma of the nasal cavity disease_ontology DOID:10812 nasal cavity olfactory neuroblastoma DOID:10812 NCI:C6074 UMLS_CUI:C1334921 Lymphoma of the nasal cavity lymphoma of nasal cavity disease_ontology DOID:10813 nasal cavity lymphoma DOID:10813 recurrent malignant Duodenal neoplasm disease_ontology DOID:10815 obsolete recurrent duodenal cancer true DOID:10815 A duodenum cancer that derives_from epithelial cells of glandular origin. NCI:C7889 SNOMEDCT_US_2023_03_01:408644002 UMLS_CUI:C0278804 Duodenal adenocarcinoma disease_ontology DOID:10816 duodenum adenocarcinoma DOID:10816 A duodenum cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma ICD10CM:F65.52 ICD9CM:302.84 MESH:D012448 NCI:C94358 SNOMEDCT_US_2023_03_01:59394009 UMLS_CUI:C0036913 disease_ontology DOID:10817 sexual sadism DOID:10817 Aseptic leptospiral meningitis Aseptic leptospiral meningitis (disorder) Leptospiral meningitis (aseptic) Leptospiral meningitis (disorder) disease_ontology DOID:10818 obsolete leptospiral meningitis true DOID:10818 A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions. GARD:11908 ICD10CM:B74.8 MESH:D004184 SNOMEDCT_US_2023_03_01:73328005 UMLS_CUI:C0012602 Dirofilaria infectious disease Infection by Dirofilaria disease_ontology DOID:1082 dirofilariasis DOID:1082 A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions. url:https://en.wikipedia.org/wiki/Dirofilariasis ICD9CM:401.0 NCI:C34802 SNOMEDCT_US_2023_03_01:78975002 UMLS_CUI:C0024588 Accelerated essential hypertension disease_ontology DOID:10823 malignant essential hypertension DOID:10823 A hypertension that is characterized by rapid onset of extremely high blood pressure. MESH:D006974 NCI:C3118 SNOMEDCT_US_2023_03_01:155301003 UMLS_CUI:C0020540 disease_ontology DOID:10824 malignant hypertension DOID:10824 A hypertension that is characterized by rapid onset of extremely high blood pressure. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3118 A hypertension with no known cause. It is the most common type of hypertension. ICD10CM:I10 ICD9CM:401 MESH:D000075222 MIM:145500 MIM:603918 MIM:604329 MIM:607329 MIM:608742 MIM:610261 MIM:610262 MIM:610948 MIM:611014 NCI:C3478 ORDO:243761 SNOMEDCT_US_2023_03_01:194757006 UMLS_CUI:C0085580 idiopathic hypertension primary hypertension disease_ontology DOID:10825 Xref MGI. OMIM mapping confirmed by DO. [SN]. essential hypertension DOID:10825 A hypertension with no known cause. It is the most common type of hypertension. url:http://en.wikipedia.org/wiki/Essential_hypertension url:http://www.merckmanuals.com/professional/cardiovascular_disorders/hypertension/overview_of_hypertension.html disease_ontology DOID:10827 obsolete gender identity disorder in adolescent or adult true DOID:10827 ICD10CM:F65.3 ICD9CM:302.82 MESH:D014843 NCI:C94360 SNOMEDCT_US_2023_03_01:192515002 UMLS_CUI:C0042979 disease_ontology DOID:10834 voyeurism DOID:10834 ICD9CM:608.84 SNOMEDCT_US_2023_03_01:7864001 UMLS_CUI:C0156315 disease_ontology DOID:10835 chylocele of tunica vaginalis DOID:10835 disease_ontology DOID:10836 obsolete diabetes mellitus with hyperosmolarity true DOID:10836 Diabetes mellitus, juvenile type with hyperosmolarity, not stated as uncontrolled Diabetes mellitus, type I [insulin dependent type] [IDDM] [juvenile type] with hyperosmolarity, not stated as uncontrolled disease_ontology DOID:10837 obsolete diabetes mellitus,insulin dependent type with hyperosmolarity, not stated as uncontrolled true DOID:10837 Diabetes mellitus, juvenile type with hyperosmolarity, uncontrolled Diabetes mellitus, type I [juvenile type] with hyperosmolarity, uncontrolled disease_ontology DOID:10838 obsolete diabetes mellitus, insulin dependent type with hyperosmolarity, uncontrolled true DOID:10838 A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus (Alphavirus eastern), which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma. GARD:10821 ICD10CM:A83.2 ICD9CM:062.2 MESH:D020242 ORDO:83594 SNOMEDCT_US_2025_05_01:416925005 UMLS_CUI:C0153065 Neuroinvasive Eastern equine encephalitis virus infection disease_ontology EEE DOID:10841 Eastern equine encephalitis GARD:10821 ICD10CM:A83.2 ICD9CM:062.2 MESH:D020242 ORDO:83594 UMLS_CUI:C0153065 DOID:10841 A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus (Alphavirus eastern), which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma. url:http://www.cdc.gov/EasternEquineEncephalitis/index.html url:https://www.ncbi.nlm.nih.gov/books/NBK557692/ EEE A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus (Orthoflavivirus murrayense), which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness. ICD10CM:A83.4 ICD9CM:062.4 SNOMEDCT_US_2023_03_01:66454007 UMLS_CUI:C0153066 Australian X disease Australian encephalitis disease_ontology DOID:10842 Murray Valley encephalitis DOID:10842 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus (Orthoflavivirus murrayense), which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness. url:https://pmc.ncbi.nlm.nih.gov/articles/PMC5324805/ url:https://www.health.nsw.gov.au/Infectious/factsheets/Pages/murray-valley-encephalitis.aspx url:https://www.ncbi.nlm.nih.gov/pubmed/13007862 A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus (Alphavirus western), which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness. GARD:7888 ICD10CM:A83.1 ICD9CM:062.1 MESH:D020241 NCI:C85227 SNOMEDCT_US_2023_03_01:47523006 UMLS_CUI:C0153064 disease_ontology WEE DOID:10843 Western equine encephalitis DOID:10843 A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus (Alphavirus western), which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness. url:https://www.cdc.gov/wee/about/ url:https://www.ncbi.nlm.nih.gov/books/NBK470228/ WEE A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus (Orthoflavivirus japonicum), which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. GARD:6797 ICD10CM:A83.0 ICD9CM:062.0 MESH:D004672 NCI:C34577 SNOMEDCT_US_2023_03_01:266194002 UMLS_CUI:C0014057 Japanese B encephalitis disease_ontology DOID:10844 Japanese encephalitis DOID:10844 A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus (Orthoflavivirus japonicum), which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. url:https://www.cdc.gov/japanese-encephalitis/about/ url:https://www.ncbi.nlm.nih.gov/books/NBK470423/ url:https://www.who.int/news-room/fact-sheets/detail/japanese-encephalitis A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus (Orthoflavivirus louisense), which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis. ICD10CM:A83.3 ICD9CM:062.3 MESH:D004674 SNOMEDCT_US_2023_03_01:10429004 UMLS_CUI:C0014060 Neuroinvasive St. Louis encephalitis virus infection disease_ontology DOID:10845 St. Louis encephalitis DOID:10845 A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus (Orthoflavivirus louisense), which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis. url:https://www.cdc.gov/sle/about/ url:https://www.ncbi.nlm.nih.gov/books/NBK470426/ ICD9CM:569.84 SNOMEDCT_US_2023_03_01:235853006 UMLS_CUI:C0267367 disease_ontology DOID:10846 angiodysplasia of intestine DOID:10846 disease_ontology DOID:10848 obsolete intrauterine hypoxia and birth asphyxia true DOID:10848 ICD10CM:F65.51 ICD9CM:302.83 MESH:D008398 NCI:C94356 SNOMEDCT_US_2023_03_01:248104007 UMLS_CUI:C0036908 disease_ontology DOID:10849 sexual masochism DOID:10849 A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18. ICD9CM:758.2 MESH:D000073842 NCI:C101362 SNOMEDCT_US_2023_03_01:51500006 UMLS_CUI:C0152096 Complete trisomy 18 syndrome E3 Trisomy trisomy 18 disease_ontology DOID:1085 OMIM mapping confirmed by DO. [LS]. Edwards syndrome DOID:1085 A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18. url:https://ghr.nlm.nih.gov/condition/trisomy-18 A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum. NCI:C3655 SNOMEDCT_US_2023_03_01:28371001 UMLS_CUI:C0155492 Cholesterin granuloma Cholesterin granuloma of middle ear disease_ontology DOID:10852 middle ear cholesterol granuloma DOID:10852 A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum. url:http://books.google.com/books?id=ZjbGu_NasbcC&pg=RA1-PA75&lpg#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/sites/entrez/16354369 A mouth disease located_in the salivary gland. DOID:12898 ICD9CM:527.8 UMLS_CUI:C0029773 Non-neoplastic Salivary gland disease disease_ontology DOID:10854 salivary gland disease DOID:10854 A mouth disease located_in the salivary gland. url:https://www.cedars-sinai.org/health-library/diseases-and-conditions/s/salivary-gland-disease-and-tumors.html disease_ontology DOID:1086 obsolete congenital chromosomal disease true DOID:1086 ICD10CM:H49 ICD9CM:378.5 SNOMEDCT_US_2023_03_01:12942001 UMLS_CUI:C0152221 Incomitant dissociation Paralytic strabismus disease_ontology DOID:10863 paralytic squint DOID:10863 ICD9CM:378.51 MESH:D015840 SNOMEDCT_US_2023_03_01:194118007 UMLS_CUI:C0271370 Partial third nerve palsy Third nerve palsy with pupil sparing Third or oculomotor nerve palsy, partial disease_ontology DOID:10864 partial third-nerve palsy DOID:10864 A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve. GARD:9482 MESH:D020434 MIM:100200 NCI:C27593 SNOMEDCT_US_2023_03_01:82373004 UMLS_CUI:C0271355 Abducens nerve weakness Lateral rectus muscle denervation paresis Lateral rectus muscle innervation disorder Sixth cranial nerve disorder Sixth nerve palsy VIth nerve Paralysis VIth nerve disorder abducens nerve disease abducens palsy disease_ontology DOID:10865 abducens nerve palsy DOID:10865 A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve. url:https://pubmed.ncbi.nlm.nih.gov/35356946/ url:https://www.aapos.org/glossary/sixth-nerve-palsy url:https://www.ncbi.nlm.nih.gov/books/NBK482177/ ICD9CM:378.52 MESH:D015840 SNOMEDCT_US_2023_03_01:194119004 UMLS_CUI:C0271371 Third nerve palsy with pupil involved Third or oculomotor nerve palsy, total Total third nerve palsy disease_ontology DOID:10866 total third-nerve palsy DOID:10866 Fourth nerve palsy Fourth or trochlear nerve palsy disease_ontology DOID:10869 fourth cranial nerve palsy DOID:10869 A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. EFO:0001365 ICD10CM:H35.30 ICD9CM:362.50 MESH:D008268 MIM:PS603075 NCI:C84391 SNOMEDCT_US_2023_03_01:18222007 UMLS_CUI:C0242383 Age Related Maculopathies Age Related Maculopathy Senile macular degeneration Senile macular retinal degeneration age-related macular degeneration disease_ontology DOID:10871 OMIM mapping confirmed by DO. [SN]. age related macular degeneration DOID:10871 A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. url:http://en.wikipedia.org/wiki/Macular_degeneration ICD10CM:H35.32 ICD9CM:362.52 SNOMEDCT_US_2023_03_01:11290001 UMLS_CUI:C0271084 Exudative senile macular degeneration of retina Neovascular age-related macular degeneration Senile macular degeneration, wet Wet senile macular retinal degeneration disease_ontology DOID:10873 Kuhnt-Junius degeneration DOID:10873 LABOR PREMATURE Labour - premature Premature labor (finding) Premature labour premature labor disease_ontology DOID:10875 obsolete premature labor true DOID:10875 disease_ontology DOID:10877 obsolete disorganized type schizophrenia chronic state with acute exacerbation true DOID:10877 A spina bifida that is characterized by herniation of the meninges between the vertebrae. SNOMEDCT_US_2023_03_01:268308005 UMLS_CUI:C0025299 disease_ontology DOID:1088 meningocele MESH:D008588 DOID:1088 A spina bifida that is characterized by herniation of the meninges between the vertebrae. url:https://en.wikipedia.org/wiki/Spina_bifida#Meningocele ICD10CM:I80.21 ICD9CM:451.81 SNOMEDCT_US_2023_03_01:840713005 UMLS_CUI:C0155772 Phlebitis and thrombophlebitis of the iliac vein disease_ontology DOID:10880 iliac vein thrombophlebitis DOID:10880 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. ICD10CM:B08.4 ICD9CM:074.3 MESH:D006232 NCI:C128439 SNOMEDCT_US_2023_03_01:175497008 UMLS_CUI:C0018572 HFMD Vesicular stomatitis and exanthem disease_ontology DOID:10881 hand, foot and mouth disease DOID:10881 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. url:https://www.cdc.gov/hand-foot-mouth/about/ url:https://www.ncbi.nlm.nih.gov/books/NBK431082/ HFMD A viral infectious disease that results in necrosis located in intercostal muscle and has_material_basis_in Human enterovirus B (Enterovirus betacoxsackie). The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache. ICD10CM:B33.0 ICD9CM:074.1 MESH:D011000 SNOMEDCT_US_2023_03_01:83264000 UMLS_CUI:C0032238 Bamble disease Bornholm disease Epidemic pleurisy Epidemic, myositis devil's grip epidemic myalgia disease_ontology DOID:10882 epidemic pleurodynia DOID:10882 A viral infectious disease that results in necrosis located in intercostal muscle and has_material_basis_in Human enterovirus B (Enterovirus betacoxsackie). The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache. url:https://en.wikipedia.org/wiki/Bornholm_disease url:https://pubmed.ncbi.nlm.nih.gov/30364740/ url:https://www.merckmanuals.com/professional/infectious-diseases/enteroviruses/epidemic-pleurodynia A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. ICD10CM:B08.5 ICD9CM:074.0 MESH:D006557 SNOMEDCT_US_2023_03_01:154358007 UMLS_CUI:C0019338 Vesicular pharyngitis disease_ontology DOID:10883 herpangina DOID:10883 A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. url:http://en.wikipedia.org/wiki/Herpangina url:http://www.nlm.nih.gov/medlineplus/ency/article/000969.htm url:https://www.ncbi.nlm.nih.gov/books/NBK507792/ A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas. ICD10CM:A30.5 ICD9CM:030.0 MESH:D015440 SNOMEDCT_US_2023_03_01:21560005 UMLS_CUI:C0023348 type L leprosy disease_ontology DOID:10887 lepromatous leprosy DOID:10887 A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas. url:https://www.amjmed.com/article/S0002-9343(17)30612-5/fulltext GARD:4018 SNOMEDCT_US_2023_03_01:282784007 UMLS_CUI:C0560648 spinal dysraphism disease_ontology DOID:1089 OMIM mapping confirmed by DO. [LS]. tethered spinal cord syndrome NCI:C99080 DOID:1089 A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. ICD10CM:Q54 MESH:D007021 MIM:146450 MIM:300633 MIM:300758 MIM:300856 NCI:C40341 ORDO:440 SNOMEDCT_US_2023_03_01:156968008 UMLS_CUI:C0848558 familial hypospadias disease_ontology DOID:10892 Xref MGI. OMIM mapping confirmed by DO. [SN]. hypospadias DOID:10892 A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. url:http://en.wikipedia.org/wiki/Hypospadias url:http://ghr.nlm.nih.gov/glossary=hypospadias Leukemic reticuloendotheliosis involving lymph nodes of axilla and upper limb Leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb (disorder) Leukemic reticuloendotheliosis of lymph nodes of axilla and/or upper limb (disorder) disease_ontology DOID:10901 obsolete leukemic reticuloendotheliosis of lymph nodes of axilla and upper limb true DOID:10901 An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses. pulmonary actinomycotic infection thoracic actinomycosis disease_ontology DOID:10902 obsolete pulmonary actinomycosis true DOID:10902 An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses. url:http://www.nlm.nih.gov/medlineplus/ency/article/000074.htm A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. GARD:3603 GARD:7038 ICD10CM:Q02 ICD9CM:742.1 MESH:D008831 NCI:C85874 SNOMEDCT_US_2023_03_01:156893009 UMLS_CUI:C0025958 Microcephalus microencephaly disease_ontology DOID:10907 OMIM mapping confirmed by DO. [SN]. microcephaly MESH:D008831 DOID:10907 A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. url:https://en.wikipedia.org/wiki/Microcephaly A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. GARD:6682 ICD10CM:G91 MESH:D006849 MIM:123155 MIM:236600 MIM:236635 MIM:307000 MIM:615219 NCI:C3111 ORDO:2182 ORDO:2185 SNOMEDCT_US_2023_03_01:267687006 UMLS_CUI:C0020255 hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive disease_ontology DOID:10908 Xref MGI. OMIM mapping confirmed by DO. [SN]. hydrocephalus DOID:10908 A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. url:http://en.wikipedia.org/wiki/Hydrocephalus url:http://ghr.nlm.nih.gov/glossary=hydrocephalus url:http://www.mayoclinic.org/diseases-conditions/hydrocephalus/basics/definition/con-20030706?_ga=1.124310025.2017809229.1415219956 A mouth disease located_in the teeth. MESH:D014076 SNOMEDCT_US_2023_03_01:367503003 UMLS_CUI:C0040435 teeth disease disease_ontology DOID:1091 tooth disease DOID:1091 A mouth disease located_in the teeth. url:https://medlineplus.gov/toothdisorders.html A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness. disease_ontology DOID:10910 obsolete echovirus meningitis true DOID:10910 A coxsackie meningitis that results_in inflammation located_in meningeal cluster, has_material_basis_in Human echovirus 30, or has_material_basis_in Human echovirus 9, which is transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, has_symptom photophobia and has_symptom neck stiffness. url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5232a1.htm url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563715/pdf/60.pdf An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. disease_ontology Enteric cytopathic human orphan virus infection DOID:10911 obsolete echovirus infectious disease true DOID:10911 An Enterovirus infectious disease that results_in infection located_in gastrointestinal tract, or located_in skin, has_material_basis_in echoviruses, which are transmitted_by ingestion of food contaminated with feces, transmitted_by droplet spread of oronasal secretions from infected person, or transmitted_by contaminated fomites. url:http://en.wikipedia.org/wiki/Echovirus ICD9CM:401.1 NCI:C3656 SNOMEDCT_US_2023_03_01:194758001 UMLS_CUI:C0155583 disease_ontology DOID:10913 benign essential hypertension DOID:10913 A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. DOID:4544 ICD10CM:R41.3 ICD9CM:294.0 MESH:D000647 NCI:C2867 SNOMEDCT_US_2023_03_01:247606008 SNOMEDCT_US_2023_03_01:3298001 UMLS_CUI:C0002622 UMLS_CUI:C0002625 Amnestic syndrome Korsakoff's psychosis or syndrome amnesia disease_ontology DOID:10914 amnestic disorder DOID:10914 A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. url:http://en.wikipedia.org/wiki/Amnesia url:http://www.minddisorders.com/A-Br/Amnestic-disorders.html A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency. MESH:D020915 MIM:277730 NCI:C35764 SNOMEDCT_US_2023_03_01:69482004 UMLS_CUI:C0349464 Korsakoff Syndrome Korsakoff's psychosis Korsakoff's syndrome Korsakov psychosis Korsakov's psychosis disease_ontology DOID:10915 OMIM mapping confirmed by DO. [LS]. Wernicke-Korsakoff syndrome DOID:10915 A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency. url:https://en.wikipedia.org/wiki/Wernicke%E2%80%93Korsakoff_syndrome Trans-sexualism with asexual history Transsexuality with asexual history (disorder) disease_ontology DOID:10918 obsolete transsexuality with asexual history true DOID:10918 A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex. disease_ontology DOID:10919 obsolete transsexualism true DOID:10919 A gender identity disorder that is characterized by an individual's identification with a gender inconsistent or not culturally associated with their biological sex. url:http://en.wikipedia.org/wiki/Transsexualism A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash. DOID:0050054 DOID:0050055 ICD10CM:A77.2 ICD9CM:082.2 MESH:D000073605 SNOMEDCT_US_2023_03_01:7692008 UMLS_CUI:C0549160 North Asian tick fever North Asian tick typhus Rickettsia sibirica spotted fever manchurian typhus disease_ontology DOID:10921 Siberian tick typhus DOID:10921 A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash. url:http://cmr.asm.org/cgi/content/full/18/4/719#%27%27Rickettsia_sibirica_subsp._sibirica%27%27_%28Siberian_tick_typhus_or_North_Asian_tick_typhus%29 url:http://www.cdc.gov/otherspottedfever/index.html Hb-S disease with mention of crisis Hemoglobin S disease with crisis (disorder) Hemoglobin SS disease with crisis (disorder) Sickle cell anemia with crisis (disorder) sickle cell crisis disease_ontology DOID:10922 obsolete sickle-cell crisis true DOID:10922 A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain. DOID:12924 DOID:13024 MESH:D000755 ORDO:232 SNOMEDCT_US_2025_04_25:127040003 UMLS_CUI:C0002895 Hb SC disease Hb-S/Hb-C disease Hb-SS disease without crisis HbSS disease Hemoglobin S disease without crisis Sickle-cell/Hb-C disease without crisis drepanocytosis haemoglobin SC disease hemoglobin SC disease homozygous sickle cell disease sickle cell anaemia disease_ontology DOID:10923 OMIM mapping confirmed by DO. [LS]. sickle cell anemia DOID:10923 A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain. url:https://en.wikipedia.org/wiki/Sickle_cell_disease url:https://ghr.nlm.nih.gov/condition/sickle-cell-disease url:https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease disease_ontology DOID:10924 obsolete catatonic type schizophrenia chronic state true DOID:10924 disease_ontology DOID:10925 obsolete catatonic schizophrenia true DOID:10925 DOID:10926 DOID:10928 DOID:10929 DOID:12230 DOID:12232 DOID:14085 DOID:14137 DOID:9522 DOID:9523 DOID:9524 ICD10CM:K28.0 ICD9CM:534.0 SNOMEDCT_US_2023_03_01:196709002 UMLS_CUI:C0156042 acute gastrojejunal ulcer with hemorrhage acute gastrojejunal ulcer with hemorrhage AND obstruction acute gastrojejunal ulcer with hemorrhage AND perforation acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction acute gastrojejunal ulcer with perforation acute gastrojejunal ulcer with perforation AND obstruction acute gastrojejunal ulcer with perforation, with obstruction acute gastrojejunal ulcer without hemorrhage AND without perforation acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction acute gastrojejunal ulcer, with hemorrhage, with obstruction chronic gastrojejunal ulcer without hemorrhage AND without perforation chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction disease_ontology DOID:10927 gastrojejunal ulcer DOID:10927 A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. ICD10CM:F60.3 ICD9CM:301.83 MESH:D001883 NCI:C92633 SNOMEDCT_US_2023_03_01:20010003 UMLS_CUI:C0006012 disease_ontology DOID:10930 borderline personality disorder DOID:10930 A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. url:http://en.wikipedia.org/wiki/Borderline_personality_disorder A personality disorder that is characterized by a pervasive psychological dependence on other people. ICD10CM:F60.7 ICD9CM:301.6 MESH:D003859 NCI:C92637 SNOMEDCT_US_2023_03_01:192492003 UMLS_CUI:C0011548 disease_ontology DOID:10931 dependent personality disorder DOID:10931 A personality disorder that is characterized by a pervasive psychological dependence on other people. url:http://en.wikipedia.org/wiki/Dependent_personality_disorder A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency. ICD10CM:F60.5 ICD9CM:301.4 MESH:D003193 NCI:C92638 SNOMEDCT_US_2023_03_01:191761001 UMLS_CUI:C0009595 OCPD disease_ontology Anankastic personality disorder DOID:10932 obsessive-compulsive personality disorder DOID:10932 A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency. url:http://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_personality_disorder OCPD An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions). ICD10CM:F42 ICD9CM:300.3 MESH:D009771 NCI:C88411 SNOMEDCT_US_2023_03_01:71478004 UMLS_CUI:C0028768 Anancastic neurosis obsessive compulsive disorder disease_ontology DOID:10933 obsessive-compulsive disorder DOID:10933 An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions). url:https://www.nimh.nih.gov/health/topics/obsessive-compulsive-disorder-ocd/index.shtml A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. ICD10CM:F44.81 ICD9CM:300.14 MESH:D009105 NCI:C94330 SNOMEDCT_US_2023_03_01:31611000 UMLS_CUI:C0026773 Dissociative identity disorder disease_ontology DOID:10934 multiple personality disorder DOID:10934 A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. url:http://en.wikipedia.org/wiki/Dissociative_identity_disorder A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). DOID:4963 ICD10CM:F44.9 ICD10CM:F48.9 ICD9CM:300.15 ICD9CM:300.9 MESH:D004213 NCI:C92197 SNOMEDCT_US_2023_03_01:154883004 UMLS_CUI:C0012746 UMLS_CUI:C0041857 dissociative disease dissociative reaction disease_ontology DOID:10935 dissociative disorder DOID:10935 A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). url:https://www.mayoclinic.org/diseases-conditions/dissociative-disorders/symptoms-causes/syc-20355215 A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world. ICD10CM:F60.1 ICD9CM:301.2 MESH:D012557 NCI:C92631 SNOMEDCT_US_2023_03_01:192486009 UMLS_CUI:C0036339 disease_ontology DOID:10936 schizoid personality disorder DOID:10936 A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world. url:http://en.wikipedia.org/wiki/Schizoid_personality_disorder A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others. ICD10CM:F63.9 ICD9CM:312.30 MESH:D007174 NCI:C34723 SNOMEDCT_US_2023_03_01:192098008 UMLS_CUI:C0021122 disease_ontology DOID:10937 impulse control disorder DOID:10937 A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others. url:https://en.wikipedia.org/wiki/Impulse_control_disorder A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others. ICD10CM:F60.0 ICD9CM:301.0 MESH:D010260 NCI:C92630 SNOMEDCT_US_2023_03_01:270529002 UMLS_CUI:C0030477 disease_ontology DOID:10938 paranoid personality disorder DOID:10938 A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others. url:http://en.wikipedia.org/wiki/Paranoid_personality_disorder A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. ICD10CM:F60.2 ICD9CM:301.7 MESH:D000987 NCI:C88413 SNOMEDCT_US_2023_03_01:191769004 UMLS_CUI:C0003431 Asocial personality Dissocial personality disorder Psychopath.personality Psychopathic personality Psychopathic personality disorder sociopathic personality disease_ontology DOID:10939 antisocial personality disorder DOID:10939 A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. url:http://en.wikipedia.org/wiki/Antisocial_personality_disorder A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age. DOID:1093 EFO:0003888 MESH:D001289 MIM:143465 MIM:608903 MIM:608904 MIM:608905 MIM:608906 MIM:612311 MIM:612312 SNOMEDCT_US_2023_03_01:229713001 UMLS_CUI:C0041671 ADHD attention deficit disorder hyperkinetic disorder disease_ontology DOID:1094 Xref MGI. attention deficit hyperactivity disorder DOID:1094 A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age. url:http://en.wikipedia.org/wiki/Attention-Deficit_Hyperactivity_Disorder url:https://www.genome.gov/Genetic-Disorders/Attention-Deficit-Hyperactivity-Disorder ADHD EFO:0003870 MESH:D002532 NCI:C34458 SNOMEDCT_US_2023_03_01:128609009 UMLS_CUI:C0007766 brain aneurysm disease_ontology DOID:10941 intracranial aneurysm DOID:10941 A mouth disease located_in the tongue. ICD10CM:K14 ICD9CM:529.9 MESH:D014060 NCI:C173793 SNOMEDCT_US_2023_03_01:69244009 UMLS_CUI:C0040409 disease_ontology DOID:10944 tongue disease DOID:10944 A mouth disease located_in the tongue. url:https://medlineplus.gov/tonguedisorders.html A kidney disease that is characterized by an inflammation of the kidneys. ICD10CM:N08 MESH:D009393 NCI:C26833 SNOMEDCT_US_2023_03_01:52845002 UMLS_CUI:C0027697 disease_ontology DOID:10952 nephritis DOID:10952 A kidney disease that is characterized by an inflammation of the kidneys. url:https://en.wikipedia.org/wiki/Nephritis A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis. DOID:0050008 GARD:8195 ICD10CM:B78 ICD9CM:127.2 MESH:D013322 NCI:C128398 SNOMEDCT_US_2023_03_01:1214006 UMLS_CUI:C0038463 Infection by Strongyloides disseminated strongyloidiasis disease_ontology DOID:10955 strongyloidiasis DOID:10955 A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis. url:http://en.wikipedia.org/wiki/Strongyloidiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers. intestinal infection due to aerobacter aerogenes disease_ontology DOID:10957 obsolete Enterobacter aerogenes intestinal infectious disease true DOID:10957 An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers. url:http://emedicine.medscape.com/article/216845-overview A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea. intestinal infectious disease due to arizona group of paracolon bacilli disease_ontology DOID:10958 obsolete Salmonella arizonae intestinal infectious disease true DOID:10958 A Salmonella infectious disease that involves infection of the intestine caused by Salmonella enterica subsp arizonae, which is a gut inhabitant of reptiles. The symptoms include fever, headache, abdominal pain, vomiting, and diarrhea. url:http://www.ncbi.nlm.nih.gov/sites/entrez/14662995 A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting. intestinal infectious disease due to Escherichia coli disease_ontology DOID:10959 obsolete Escherichia coli intestinal infectious disease true DOID:10959 A primary bacterial infectious disease that involves infection of the intestine by the bacterium Escherichia coli, caused by consumption of contaminated food and water. Some strains of Escherichia coli produce Shiga toxin, which cause severe illness. The symptoms include severe stomach cramps, fever, diarrhea (sometimes bloody), and vomiting. url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/ecoli_o157h7/index.html url:http://www.who.int/mediacentre/factsheets/fs125/en/ ICD10CM:H71.0 ICD9CM:385.31 SNOMEDCT_US_2023_03_01:38708003 UMLS_CUI:C0155489 disease_ontology DOID:10963 cholesteatoma of attic DOID:10963 DOID:11433 ICD10CM:H71 ICD9CM:385.3 ICD9CM:385.32 MESH:D018424 NCI:C3654 SNOMEDCT_US_2023_03_01:39911004 SNOMEDCT_US_2023_03_01:87688009 UMLS_CUI:C0008374 UMLS_CUI:C0155490 Cholesteatoma of middle ear and mastoid Cholesteatoma of middle ear and/or mastoid Cholesteatoma of the middle ear Epidermosis of ear Epidermosis of middle ear middle ear cholesteatoma disease_ontology DOID:10964 cholesteatoma of middle ear DOID:10964 A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. DOID:3778 ICD10CM:G80.1 ICD9CM:343.0 MESH:D002547 NCI:C34781 SNOMEDCT_US_2023_03_01:1178005 SNOMEDCT_US_2023_03_01:275469001 UMLS_CUI:C0023882 UMLS_CUI:C0154695 Diplegic infantile cerebral palsy Infantile spastic cerebral palsy Little's disease Littles disease cerebral spastic infantile paralysis infantile diplegic cerebral palsy disease_ontology DOID:10965 spastic diplegia DOID:10965 A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. url:https://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy ICD10CM:N04 MESH:D009402 NCI:C34844 SNOMEDCT_US_2023_03_01:197592009 UMLS_CUI:C0027721 Minimal Change Glomerulonephritis Minimal change disease Nephrotic syndrome with lesion of minimal change glomerulonephritis Nephrotic syndrome with lesion of minimal change nephrotic syndrome disease_ontology DOID:10966 lipoid nephrosis DOID:10966 A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally. GARD:10448 ICD9CM:343.1 SNOMEDCT_US_2023_03_01:258714003 UMLS_CUI:C0270805 Congenital hemiplegia Hemiplegic infantile cerebral palsy hemiplegic cerebral palsy spastic hemiplegic cerebral palsy disease_ontology DOID:10967 spastic hemiplegia DOID:10967 A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally. url:https://www.cerebralpalsyguide.com/cerebral-palsy/types/spastic/ A spastic cerebral palsy that affects only one limb. GARD:10446 ICD9CM:343.3 MESH:D002547 UMLS_CUI:C0154698 Monoplegic infantile cerebral palsy infantile monoplegic cerebral palsy spastic monoplegic cerebral palsy disease_ontology DOID:10968 spastic monoplegia DOID:10968 A spastic cerebral palsy that affects only one limb. url:http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic A central nervous system disease that is characterized by the complete paralysis of half of the body. GARD:6583 ICD9CM:343.4 MESH:D006429 SNOMEDCT_US_2023_03_01:155024003 UMLS_CUI:C0392550 Infantile hemiplegia Postnatal infantile hemiplegia disease_ontology DOID:10969 hemiplegia DOID:10969 A central nervous system disease that is characterized by the complete paralysis of half of the body. url:https://en.wikipedia.org/wiki/Hemiparesis disease_ontology DOID:1097 Hydrops fetalis is a alpha thalassemia characterized by an abnormal accumulation of serous fluid in the fetal tissues, as in erythroblastosis fetalis. obsolete hydrops fetalis true DOID:1097 Hydrops fetalis is a alpha thalassemia characterized by an abnormal accumulation of serous fluid in the fetal tissues, as in erythroblastosis fetalis. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hydrops%20fetalis A spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four limbs, and with difficulty with walking and talking. GARD:10447 ICD9CM:343.2 MESH:D002547 MIM:PS612900 ORDO:210141 SNOMEDCT_US_2023_03_01:192953000 UMLS_CUI:C0154697 inherited congenital spastic quadriplegia inherited congenital spastic tetraplegia quadriplegic infantile cerebral palsy spastic quadriplegia tetraplegic infantile cerebral palsy disease_ontology DOID:10970 Xref MGI. spastic quadriplegic cerebral palsy DOID:10970 A spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four limbs, and with difficulty with walking and talking. url:https://cerebralpalsygroup.com/cerebral-palsy/spastic/ ICD10CM:N70.03 ICD9CM:614.0 SNOMEDCT_US_2023_03_01:155969007 UMLS_CUI:C0156327 acute salpingitis and oophoritis disease_ontology DOID:10971 acute salpingo-oophoritis DOID:10971 ICD10CM:N70 ICD9CM:614.2 NCI:C171201 SNOMEDCT_US_2023_03_01:46536000 UMLS_CUI:C0036133 Salpingitis/oophoritis Tubo-ovarian inflammatory disease disease_ontology DOID:10972 salpingo-oophoritis DOID:10972 ICD10CM:N70.01 NCI:C40120 SNOMEDCT_US_2023_03_01:8912009 UMLS_CUI:C0269038 disease_ontology DOID:10973 acute salpingitis DOID:10973 An ovarian disease that is characterized by inflammation of the ovary. ICD10CM:N70.92 MESH:D009869 SNOMEDCT_US_2023_03_01:266648001 UMLS_CUI:C0029051 disease_ontology DOID:10974 oophoritis DOID:10974 An ovarian disease that is characterized by inflammation of the ovary. url:https://en.wikipedia.org/wiki/Oophoritis EFO:0004254 ICD10CM:N03.2 MESH:D015433 NCI:C34645 SNOMEDCT_US_2023_03_01:197710000 UMLS_CUI:C0017665 membranous nephropathy disease_ontology DOID:10976 membranous glomerulonephritis DOID:10976 A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. acute nonparalytic poliomyelitis poliovirus type III disease_ontology DOID:10978 obsolete poliovirus type III nonparalytic poliomyelitis true DOID:10978 A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 3, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. acute nonparalytic poliomyelitis poliovirus type I disease_ontology DOID:10979 obsolete poliovirus type I nonparalytic poliomyelitis true DOID:10979 A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 1, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis. ICD10CM:P55 ICD9CM:773 MESH:D004899 NCI:C101304 SNOMEDCT_US_2023_03_01:111468003 UMLS_CUI:C0014761 EF - Erythroblastosis foetalis Haemolytic disease due to rhesus isoimmunisation Hemolytic disease of the fetus and newborn alloimmune HDFN erythroblastosis fetalis fetal erythroblastosis rhesus isoimmunisation of the newborn disease_ontology DOID:1098 hemolytic disease of the fetus DOID:1098 A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis. url:https://www.ncbi.nlm.nih.gov/books/NBK557423/ A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. acute nonparalytic poliomyelitis poliovirus type II disease_ontology DOID:10980 obsolete poliovirus type II nonparalytic poliomyelitis true DOID:10980 A nonparalytic poliomyelitis that results_in destruction located_in motor neurons, has_material_basis_in Human poliovirus 2, which is transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom vomiting, has_symptom fatigue, has_symptom neck stiffness, and has_symptom muscle spasms. url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. GARD:5785 MESH:D009394 ORDO:63 SNOMEDCT_US_2023_03_01:57333009 UMLS_CUI:C0027706 Hereditary Nephritis disease_ontology DOID:10983 OMIM mapping confirmed by DO. [SN]. Alport syndrome DOID:10983 A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. url:http://en.wikipedia.org/wiki/Alport_syndrome A cartilage disease that is characterized by an infection of the intervertebral disc space. ICD10CM:M46.4 MESH:D015299 SNOMEDCT_US_2023_03_01:2304001 UMLS_CUI:C0012624 diskitis disease_ontology DOID:10986 discitis DOID:10986 A cartilage disease that is characterized by an infection of the intervertebral disc space. url:https://medlineplus.gov/ency/article/000993.htm url:https://www.ncbi.nlm.nih.gov/books/NBK541047 ICD10CM:H11.41 ICD9CM:372.74 NCI:C35116 SNOMEDCT_US_2023_03_01:74100001 UMLS_CUI:C0042370 Conjunctival vascular abnormality vascular abnormalities of conjunctiva disease_ontology DOID:10989 conjunctival vascular disease DOID:10989 A thalassemia involving the genes HBA1and HBA2 hemoglobin genes. GARD:621 ICD10CM:D56.0 ICD9CM:282.43 MESH:D017085 MIM:604131 NCI:C34368 SNOMEDCT_US_2023_03_01:191186002 UMLS_CUI:C0002312 Alpha thalassaemia alpha-Thalassemia disease_ontology DOID:1099 OMIM mapping confirmed by DO. [SN]. alpha thalassemia DOID:1099 A thalassemia involving the genes HBA1and HBA2 hemoglobin genes. url:http://en.wikipedia.org/wiki/Alpha_Thalassemia MESH:D020144 UMLS_CUI:C0751739 disease_ontology DOID:10991 basal ganglia cerebrovascular disease MESH:D020144 DOID:10991 A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema. GARD:8629 MESH:D004684 MIM:606752 NCI:C84535 SNOMEDCT_US_2023_03_01:72986009 UMLS_CUI:C0014077 AHL Weston-Hurst syndrome acute haemorrhagic leucoencephalitis of Weston Hurst acute hemorrhagic encephalomyelitis acute necrotizing hemorrhagic leukoencephalitis disease_ontology DOID:10992 OMIM mapping confirmed by DO. [SN]. acute hemorrhagic leukoencephalitis DOID:10992 A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema. url:http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis#Acute_hemorrhagic_leukoencephalitis AHL An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occurring two to three weeks after the initial infection. Postinfective encephalitis secondary encephalitis disease_ontology DOID:10993 postinfectious encephalitis DOID:10993 An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occurring two to three weeks after the initial infection. url:https://www.mayoclinic.org/diseases-conditions/encephalitis/symptoms-causes/syc-20356136 A senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining. ICD10CM:H25.09 SNOMEDCT_US_2023_03_01:52421005 UMLS_CUI:C0271163 Incipient cataract Incipient senile cataract Water clefts disease_ontology DOID:10997 immature cataract DOID:10997 A senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining. url:https://en.wikipedia.org/wiki/Cataract disease_ontology DOID:10998 obsolete chronic glomerulonephritis with lesion of membranoproliferative glomerulonephritis true DOID:10998 An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye. ICD10CM:H27.9 MESH:D007905 NCI:C26812 SNOMEDCT_US_2023_03_01:194613002 UMLS_CUI:C0023308 disease_ontology DOID:110 lens disease DOID:110 An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye. url:https://en.wikipedia.org/wiki/Lens_(anatomy) A female reproductive system disease that is located_in the ovary. MESH:D010049 NCI:C26841 SNOMEDCT_US_2023_03_01:5552004 UMLS_CUI:C0029928 disease_ontology DOID:1100 ovarian disease DOID:1100 A female reproductive system disease that is located_in the ovary. url:https://medlineplus.gov/ovariandisorders.html Essential iris atrophy (disorder) Essential or progressive iris atrophy disease_ontology DOID:11000 obsolete progressive iris atrophy true DOID:11000 disease_ontology DOID:11001 obsolete Iris and ciliary body degeneration true DOID:11001 Iridoschisis (disorder) disease_ontology DOID:11002 obsolete Iridoschisis true DOID:11002 Miotic cyst of pupillary margin (disorder) Miotic cysts of pupillary margin disease_ontology DOID:11003 obsolete pupillary margin miotic cyst true DOID:11003 degeneration of pupillary margin degeneration of pupillary margin (disorder) disease_ontology DOID:11005 obsolete Atrophy of sphincter of iris true DOID:11005 SNOMEDCT_US_2023_03_01:68627009 UMLS_CUI:C0156183 Stenosis of rectum and anus disease_ontology DOID:11014 anorectal stricture DOID:11014 Post-surgical testicular hypofunction (disorder) Postablative testicular hypofunction Postablative testicular hypofunction (disorder) Postablative testicular hypofunction NOS (disorder) Postsurgical testicular hypofunction (disorder) [Ambiguous] disease_ontology DOID:11018 obsolete postsurgical testicular hypofunction true DOID:11018 disease_ontology DOID:11019 obsolete testicular dysfunction true DOID:11019 chronic glomerulonephritis with lesion of proliferative glomerulonephritis disease_ontology DOID:11020 obsolete chronic glomerulonephritis with lesion of proliferative glomerulonephritis true DOID:11020 chronic Glomerulonephritis with Lesion of Membranous Glomerulonephritis disease_ontology DOID:11027 obsolete chronic glomerulonephritis with lesion of membranous glomerulonephritis true DOID:11027 ICD9CM:372.52 SNOMEDCT_US_2023_03_01:66139007 UMLS_CUI:C0155161 disease_ontology DOID:11028 pseudopterygium DOID:11028 ICD10CM:H11.15 ICD9CM:372.51 MESH:D059407 NCI:C129468 SNOMEDCT_US_2023_03_01:267735001 UMLS_CUI:C0152255 disease_ontology DOID:11029 pinguecula DOID:11029 disease_ontology DOID:1103 obsolete malignant esophageal neoplasm by topographic region true DOID:1103 ICD10CM:H18.20 ICD9CM:371.2 MESH:D015715 NCI:C50508 SNOMEDCT_US_2023_03_01:193811006 UMLS_CUI:C0010037 Corneal oedema disease_ontology DOID:11030 corneal edema DOID:11030 ICD10CM:H18.1 ICD9CM:371.23 NCI:C26970 SNOMEDCT_US_2023_03_01:193815002 UMLS_CUI:C0155111 disease_ontology DOID:11031 bullous keratopathy DOID:11031 ICD10CM:H18.23 ICD9CM:371.22 SNOMEDCT_US_2023_03_01:193814003 UMLS_CUI:C0155110 disease_ontology DOID:11032 secondary corneal edema DOID:11032 ICD10CM:H18.22 ICD9CM:371.21 SNOMEDCT_US_2023_03_01:193813009 UMLS_CUI:C0155109 disease_ontology DOID:11033 idiopathic corneal edema DOID:11033 ICD9CM:371.24 SNOMEDCT_US_2023_03_01:49362009 UMLS_CUI:C0474442 disease_ontology DOID:11034 contact lens corneal edema DOID:11034 ICD9CM:582.4 SNOMEDCT_US_2023_03_01:197614002 UMLS_CUI:C0341694 chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis disease_ontology DOID:11036 chronic rapidly progressive glomerulonephritis DOID:11036 A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress. ICD10CM:F44.0 ICD9CM:300.12 MESH:D000647 NCI:C94328 SNOMEDCT_US_2023_03_01:192420000 UMLS_CUI:C0236795 psychogenic amnesia disease_ontology DOID:11037 dissociative amnesia DOID:11037 A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress. url:https://www.merckmanuals.com/professional/psychiatric-disorders/dissociative-disorders/dissociative-amnesia A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization. GARD:6260 ICD9CM:300.6 MESH:D003861 NCI:C94331 SNOMEDCT_US_2023_03_01:70764005 UMLS_CUI:C0683416 Neurotic derealization disease_ontology DOID:11038 depersonalization disorder DOID:11038 A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization. url:http://en.wikipedia.org/wiki/Depersonalization_disorder A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia. GARD:8234 ICD10CM:M05.0 ICD9CM:714.1 MESH:D005258 MIM:134750 NCI:C84712 SNOMEDCT_US_2023_03_01:57160007 UMLS_CUI:C0015773 Felty syndrome Rheumatoid arthritis with splenoadenomegaly and leukopenia disease_ontology DOID:11042 OMIM mapping confirmed by DO. [SN]. Felty's syndrome DOID:11042 A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia. url:http://en.wikipedia.org/wiki/Felty%27s_syndrome url:http://www.nlm.nih.gov/medlineplus/ency/article/000445.htm GARD:8661 ICD10CM:Q79.3 ICD9CM:756.73 MESH:D020139 MIM:230750 NCI:C84725 SNOMEDCT_US_2023_03_01:72951007 UMLS_CUI:C0265706 disease_ontology DOID:11044 OMIM mapping confirmed by DO. [SN]. gastroschisis DOID:11044 A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery. GARD:10494 ICD10CM:P24.01 MESH:D008471 NCI:C87093 SNOMEDCT_US_2023_03_01:85779008 UMLS_CUI:C0025048 Neonatal aspiration of meconium meconium aspiration disease_ontology DOID:11049 meconium aspiration syndrome DOID:11049 A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery. url:https://pubmed.ncbi.nlm.nih.gov/27206687/ metastatic tumor to the esophagus disease_ontology DOID:1105 obsolete esophageal metastasis true DOID:1105 An urinary system cancer that results_in malignant growth located_in the urinary bladder. DOID:5428 GARD:12210 ICD10CM:C67 ICD9CM:188 KEGG:05219 MESH:D001749 MIM:109800 NCI:C2901 NCI:C9334 SNOMEDCT_US_2023_03_01:126885006 SNOMEDCT_US_2023_03_01:363455001 UMLS_CUI:C0005684 UMLS_CUI:C0005695 bladder cancer tumor of the bladder disease_ontology DOID:11054 OMIM mapping confirmed by DO. [SN]. urinary bladder cancer DOID:11054 An urinary system cancer that results_in malignant growth located_in the urinary bladder. url:http://en.wikipedia.org/wiki/Bladder_cancer A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia. ICD10CM:A28.0 ICD9CM:027.2 MESH:D010326 SNOMEDCT_US_2023_03_01:276199008 UMLS_CUI:C0030636 Pasteurella infection Pasteurella infectious disease disease_ontology DOID:11055 pasteurellosis DOID:11055 A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia. url:http://en.wikipedia.org/wiki/Pasteurellosis hemorrhagic septicemia disease_ontology DOID:11056 obsolete Pasteurella hemorrhagic septicemia true DOID:11056 NCI:C5687 UMLS_CUI:C1333459 Lymphoma of esophagus Lymphoma of oesophagus oesophagus lymphoma disease_ontology DOID:1106 esophagus lymphoma DOID:1106 A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix. ICD10CM:O44 MESH:D010923 NCI:C26858 SNOMEDCT_US_2023_03_01:157059004 UMLS_CUI:C0032046 disease_ontology DOID:11060 placenta praevia DOID:11060 A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix. url:http://en.wikipedia.org/wiki/Placenta_previa A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. EFO:0002916 NCI:C3513 SNOMEDCT_US_2023_03_01:255079005 UMLS_CUI:C0152018 cancer of esophagus cancer of oesophagus carcinoma of esophagus carcinoma of oesophagus disease_ontology DOID:1107 esophageal carcinoma DOID:1107 A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Esophageal_cancer Cyst of the Thyroid gland Cyst of thyroid Cyst of thyroid (disorder) Thyroid cyst disease_ontology DOID:11074 obsolete cyst of thyroid true DOID:11074 A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue. disease_ontology DOID:11076 Brucella suis brucellosis DOID:11076 A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue. url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5822a3.htm A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue. DOID:0050060 GARD:5966 ICD10CM:A23 ICD9CM:023 MESH:D002006 NCI:C84602 SNOMEDCT_US_2023_03_01:154296006 UMLS_CUI:C0006309 Maltese fever undulant fever disease_ontology Bang's disease Gibraltar fever Malta fever Mediterranean fever DOID:11077 brucellosis DOID:11077 A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue. url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream. ICD10CM:B88.3 ICD9CM:134.2 SNOMEDCT_US_2023_03_01:154423006 UMLS_CUI:C0019575 Hirudiniasis Leeches disease_ontology DOID:11079 leech infestation DOID:11079 A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream. url:http://en.wikipedia.org/wiki/Leech url:http://www.plosone.org/article/info:doi/10.1371/journal.pone.0010057 NCI:C5707 UMLS_CUI:C1333460 melanoma of esophagus melanoma of oesophagus oesophagus melanoma disease_ontology DOID:1108 esophagus melanoma DOID:1108 A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue. ICD10CM:B87 ICD9CM:134.0 MESH:D009198 NCI:C128400 SNOMEDCT_US_2023_03_01:266225001 UMLS_CUI:C0027030 Infestation by fly larvae Infestation by maggots Maggot infestation disease_ontology DOID:11080 myiasis DOID:11080 A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue. url:http://en.wikipedia.org/wiki/Myiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm ICD10CM:H31.0 ICD9CM:363.3 SNOMEDCT_US_2023_03_01:53854005 UMLS_CUI:C0008512 disease_ontology DOID:11086 chorioretinal scar DOID:11086 A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain. GARD:5857 ICD10CM:P84 ICD9CM:768.9 MESH:D001238 SNOMEDCT_US_2023_03_01:413654009 UMLS_CUI:C0004045 Asphyxia - birth Asphyxia, in liveborn infant Birth asphyxia postnatal asphyxia disease_ontology DOID:11088 asphyxia neonatorum MESH:D001238 DOID:11088 A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain. url:https://en.wikipedia.org/wiki/Perinatal_asphyxia disease_ontology DOID:1109 obsolete extracutaneous melanoma true DOID:1109 Perinatal respiratory problems NOS Perinatal respiratory problems NOS (disorder) Unspecified respiratory condition of fetus and newborn respiratory condition of fetus OR newborn (disorder) disease_ontology DOID:11091 obsolete perinatal respiratory disorder true DOID:11091 A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness. Enteric paratyphosis Salmonella food poisoning Salmonella food poisoning (disorder) Salmonella gastroenteritis Salmonella gastroenteritis (disorder) Salmonella gastroenteritis [Ambiguous] Salmonellosis Salmonellosis (& [gastroenteritis] or [food poisoning]) disease_ontology DOID:11092 obsolete Salmonella gastroenteritis true DOID:11092 A Salmonella infectious disease that involves inflammation of the stomach and intestines caused by Salmonella infection. The symptoms include diarrhea, vomiting, abdominal pain, fever and weakness. url:http://www.ncbi.nlm.nih.gov/sites/entrez/12631900 A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting. DOID:0050128 Bacterial gastroenteritis (disorder) Gastroenteritis - bact. bacterial diarrhea disease_ontology DOID:11093 obsolete bacterial gastroenteritis true DOID:11093 A gastroenteritis that involves inflammation of the stomach and intestines caused by bacteria. The symptoms include abdominal cramps and pain, diarrhea, loss of appetite, nausea, and vomiting. url:http://www.nlm.nih.gov/medlineplus/ency/article/000254.htm Syphilis of kidney Syphilis of kidney (disorder) disease_ontology DOID:11096 obsolete renal syphilis true DOID:11096 A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever. Syphilis of lung (disorder) disease_ontology DOID:11097 obsolete pulmonary syphilis true DOID:11097 A tertiary syphilis that is caused by the spirochetal bacterium Treponema pallidum subspecies pallidum. It is a sexually transmitted disease although congenital syphilis can also occur. Treponema infection of the lung leads to a fibrous induration spreading from the roots of the lungs. Ulcerations occur in the superficial tissues, while in the deep tissues gummata are formed. Symptoms include dry cough, hemoptysis, hemorrhage, dyspnea, pain in the chest, loss of weight and slight fever. url:http://sti.bmj.com/cgi/reprint/4/4/290.pdf url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1707740/pdf/canmedaj00442-0068.pdf disease_ontology DOID:11099 obsolete primary Rickettsiaceae infectious disease true DOID:11099 disease_ontology DOID:1110 obsolete gastrointestinal melanoma true DOID:1110 A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia. GARD:7515 ICD10CM:A78 ICD9CM:083.0 MESH:D011778 NCI:C34970 SNOMEDCT_US_2023_03_01:266205000 UMLS_CUI:C0034362 Infection due to Coxiella burnetii disease_ontology DOID:11100 Q fever DOID:11100 A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia. url:http://en.wikipedia.org/wiki/Q_fever url:http://www.cdc.gov/qfever/symptoms/index.html url:https://www.ncbi.nlm.nih.gov/pubmed/15021054 A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back. ICD10CM:A79.0 ICD9CM:083.1 MESH:D014205 SNOMEDCT_US_2023_03_01:82214002 UMLS_CUI:C0040830 His-Werner disease Quintan fever Wolhynian fever shin bone fever tibialgic fever disease_ontology DOID:11101 trench fever MESH:D014205 DOID:11101 A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back. url:http://en.wikipedia.org/wiki/Trench_fever A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella. ICD10CM:A44 ICD9CM:088.0 MESH:D001474 NCI:C84586 SNOMEDCT_US_2023_03_01:17116008 UMLS_CUI:C0004771 Bartonella infectious disease Rochalimaea infection bartonelliasis disease_ontology DOID:11102 bartonellosis DOID:11102 A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella. url:https://en.wikipedia.org/wiki/Bartonellosis A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash. DOID:0050037 ICD10CM:A79.1 ICD9CM:083.2 MESH:D000073605 SNOMEDCT_US_2023_03_01:75096007 UMLS_CUI:C0035597 Rickettsia akari spotted fever Vesicular rickettsiosis disease_ontology DOID:11103 rickettsialpox DOID:11103 A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash. url:http://www.cdc.gov/otherspottedfever/index.html A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted by ticks and mites. The infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite. GARD:4998 ICD10CM:A77.9 ICD9CM:082.0 MESH:D000073605 SNOMEDCT_US_2023_03_01:186771002 UMLS_CUI:C0038041 Spotted fever group rickettsial disease disease_ontology DOID:11104 spotted fever DOID:11104 A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted by ticks and mites. The infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite. url:http://www.cdc.gov/otherspottedfever/index.html A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. MESH:C562733 MIM:136880 SNOMEDCT_US_2023_03_01:68222009 UMLS_CUI:C0311338 Pigmentary retinal dystrophy retinitis punctata albescens disease_ontology DOID:11105 OMIM mapping confirmed by DO. [SN]. fundus albipunctatus DOID:11105 A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. url:http://www.omim.org/entry/136880 Glaucoma associated with anterior segment anomaly (disorder) Glaucoma associated with other anterior segment anomalies disease_ontology DOID:11106 obsolete glaucoma associated with anterior segment anomaly true DOID:11106 disease_ontology DOID:11107 obsolete glaucoma associated with ocular disorder true DOID:11107 malignant neoplasm of cervical esophagus malignant neoplasm of cervical oesophagus malignant neoplasm of the cervical esophagus malignant tumor of cervical part of esophagus (disorder) disease_ontology DOID:1111 obsolete malignant neoplasm of cervical part of esophagus true DOID:1111 disease_ontology DOID:11110 obsolete psychosexual dysfunction with female orgasmic disease true DOID:11110 An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine. ICD10CM:N13.30 ICD9CM:591 MESH:D006869 NCI:C26796 SNOMEDCT_US_2023_03_01:155866001 UMLS_CUI:C0020295 disease_ontology DOID:11111 hydronephrosis DOID:11111 An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine. url:https://my.clevelandclinic.org/health/diseases/15417-hydronephrosis url:https://pubmed.ncbi.nlm.nih.gov/39690090/ Syphilitic retrobulbar neuritis (disorder) disease_ontology DOID:11118 obsolete syphilitic retrobulbar neuritis true DOID:11118 A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. EFO:0004895 GARD:7783 ICD10CM:F95.2 ICD9CM:307.23 MESH:D005879 MIM:137580 NCI:C35078 SNOMEDCT_US_2023_03_01:5158005 UMLS_CUI:C0040517 Guinon's disease Psychogenic tics Tourette syndrome motor-verbal tic disorder disease_ontology DOID:11119 OMIM mapping confirmed by DO. [SN]. Gilles de la Tourette syndrome DOID:11119 A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. url:http://en.wikipedia.org/wiki/Tic_disorder url:http://en.wikipedia.org/wiki/Tourette%27s_disorder malignant neoplasm of neck malignant neoplasm of neck NOS (disorder) malignant tumor of neck (disorder) malignant tumor of the neck neck cancer disease_ontology cancer of neck DOID:1112 obsolete neck cancer true DOID:1112 ICD10CM:F52.6 ICD9CM:302.76 SNOMEDCT_US_2023_03_01:41021005 UMLS_CUI:C0154466 Dyspareunia, psychogenic Non-organic dyspareunia disease_ontology DOID:11120 psychologic dyspareunia DOID:11120 A dental pulp disease characterized by inflammation. ICD10CM:K04.0 ICD9CM:522.0 MESH:D011671 NCI:C52595 SNOMEDCT_US_2023_03_01:155638006 UMLS_CUI:C0034103 pulp stones disease_ontology DOID:11121 pulpitis DOID:11121 A dental pulp disease characterized by inflammation. url:https://www.ada.org/publications/cdt/glossary-of-dental-clinical-terms url:https://www.merckmanuals.com/professional/dental-disorders/common-dental-disorders/pulpitis A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection. GARD:8204 ICD10CM:D69.0 ICD9CM:287.0 MESH:D011695 NCI:C34963 ORDO:761 SNOMEDCT_US_2023_03_01:191306005 UMLS_CUI:C0034152 Allergic purpura Autoimmune purpura HSP Henoch Schoenlein purpura Henoch Scholein purpura Henoch Schonlein purpura Henoch Schönlein purpura Henoch-Schoenlein purpura Henoch-Scholein purpura Henoch-Schonlein purpura Henoch-Schönlein purpura IgAV Purpura, autoimmune immunoglobulin A vasculitis disease_ontology DOID:11123 IgA vasculitis GARD:8204 ICD10CM:D69.0 ICD9CM:287.0 MESH:D011695 NCI:C34963 ORDO:761 UMLS_CUI:C0034152 DOID:11123 A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection. url:https://rarediseases.info.nih.gov/diseases/8204/henoch-schonlein-purpura HSP IgAV ICD10CM:D69.1 ICD9CM:287.1 SNOMEDCT_US_2023_03_01:191311007 UMLS_CUI:C0235604 Qualitative platelet deficiency disease_ontology DOID:11125 qualitative platelet defect DOID:11125 ICD10CM:D69.5 ICD9CM:287.4 SNOMEDCT_US_2023_03_01:74576004 UMLS_CUI:C0154301 secondary thrombocytopenia disease_ontology DOID:11126 acquired thrombocytopenia DOID:11126 ICD9CM:385.23 UMLS_CUI:C0155487 disease_ontology DOID:11129 dislocation of ear ossicle DOID:11129 disease_ontology DOID:1113 obsolete malignant esophageal neoplasm by anatomic region true DOID:1113 ICD10CM:I15 ICD9CM:405 NCI:C3657 SNOMEDCT_US_2023_03_01:155300002 UMLS_CUI:C0155616 disease_ontology DOID:11130 secondary hypertension DOID:11130 disease_ontology DOID:11132 prostatic hypertrophy DOID:11132 ICD10CM:N42.83 ICD9CM:600.3 SNOMEDCT_US_2023_03_01:409658007 UMLS_CUI:C1443972 Cyst of prostate disease_ontology DOID:11133 prostatic cyst DOID:11133 ICD10CM:H04.16 ICD9CM:375.16 SNOMEDCT_US_2023_03_01:84777002 UMLS_CUI:C0155231 Dislocation of lacrimal gland disease_ontology DOID:11134 prolapse of lacrimal gland DOID:11134 An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus. NCI:C5341 UMLS_CUI:C1333466 disease_ontology esophageal sarcoma DOID:1114 esophagus sarcoma DOID:1114 An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus. url:http://en.wikipedia.org/wiki/Sarcoma url:https://www.ncbi.nlm.nih.gov/pubmed/1658495 Anthrax septicemia (disorder) disease_ontology DOID:11144 obsolete anthrax septicemia true DOID:11144 primary cyst of pars plana primary cyst of pars plana (disorder) disease_ontology DOID:11145 obsolete Pars plana primary cyst true DOID:11145 DOID:11146 DOID:14083 antepartum vascular lesions of cord complicating labor and delivery vascular lesions of cord complicating labor and delivery, delivered disease_ontology DOID:11147 obsolete vascular lesions of cord complicating labor and delivery true DOID:11147 A glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss. Hypersecretion glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Hypersecretion glaucoma is caused by high aqueous fluid inflow relative to outflow. ICD10CM:H40.82 ICD9CM:365.81 SNOMEDCT_US_2023_03_01:29369005 UMLS_CUI:C0154968 disease_ontology DOID:11148 hypersecretion glaucoma DOID:11148 A glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss. Hypersecretion glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Hypersecretion glaucoma is caused by high aqueous fluid inflow relative to outflow. url:https://en.wikipedia.org/wiki/Glaucoma#Primary_glaucoma_and_its_variants url:https://jamanetwork.com/journals/jamaophthalmology/article-abstract/624904 A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. Aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity. ICD10CM:H40.83 ICD9CM:365.83 UMLS_CUI:C1135189 disease_ontology DOID:11149 aqueous misdirection DOID:11149 A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. Aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity. url:https://eyewiki.aao.org/Aqueous_misdirection A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. DOID:3936 ICD10CM:C49 ICD9CM:171.9 ICDO:8800/3 SNOMEDCT_US_2023_03_01:93765001 UMLS_CUI:C0153519 connective and soft tissue neoplasm tumor of soft tissue and skeleton disease_ontology DOID:1115 sarcoma DOID:1115 A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. url:http://cancergenome.nih.gov/cancersselected/Sarcoma url:http://en.wikipedia.org/wiki/Sarcoma url:http://www.cancer.gov/dictionary?CdrID=45562 Glaucoma with increased episcleral venous pressure Glaucoma with increased episcleral venous pressure (disorder) disease_ontology DOID:11150 obsolete glaucoma due to raised episcleral venous pressure true DOID:11150 MESH:D041761 NCI:C34443 SNOMEDCT_US_2023_03_01:235919008 UMLS_CUI:C0947622 disease_ontology DOID:11151 cholecystolithiasis DOID:11151 A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction. ICD10CM:L74.0 ICD9CM:705.1 MESH:D008883 SNOMEDCT_US_2023_03_01:44279002 UMLS_CUI:C0162423 prickly heat disease_ontology DOID:11153 miliaria rubra DOID:11153 A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction. url:https://en.wikipedia.org/wiki/Miliaria url:https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html url:https://www.ncbi.nlm.nih.gov/books/NBK537176/ A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands. ICD10CM:L74.4 MESH:D007007 NCI:C34718 SNOMEDCT_US_2023_03_01:201189007 UMLS_CUI:C0020620 Oligohidrosis disease_ontology DOID:11155 hypohidrosis MESH:D007007 DOID:11155 A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands. url:https://en.wikipedia.org/wiki/Hypohidrosis A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin. ICD10CM:L74.4 ICD9CM:705.0 MESH:D007007 MIM:206600 NCI:C34385 SNOMEDCT_US_2023_03_01:201189007 UMLS_CUI:C0003028 Adiaphoresis absence of sweating disease_ontology DOID:11156 OMIM mapping confirmed by DO. [SN]. anhidrosis DOID:11156 A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin. url:https://en.wikipedia.org/wiki/Hypohidrosis url:https://my.clevelandclinic.org/health/diseases/15891-anhidrosis-lack-of-sweat disorder of optic chiasm associated with non-pituitary neoplasm (disorder) disorder of optic chiasm associated with other neoplasm disease_ontology DOID:11158 obsolete disorder of optic chiasm associated with non-pituitary neoplasm true DOID:11158 A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). DOID:11333 DOID:11751 KEGG:05133 MESH:D001885 SNOMEDCT_US_2023_03_01:26484003 UMLS_CUI:C0006015 WC - Whooping cough bordetella infection whooping cough disease_ontology DOID:1116 pertussis DOID:1116 A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). url:http://en.wikipedia.org/wiki/Pertussis url:http://www.merck.com/mmhe/sec23/ch272/ch272g.html#sec23-ch272-ch272g-800 A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates. ICD10CM:P28.5 ICD9CM:770.84 SNOMEDCT_US_2023_03_01:95619009 UMLS_CUI:C0521648 respiratory failure of newborn disease_ontology DOID:11161 neonatal respiratory failure DOID:11161 A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates. url:https://pubmed.ncbi.nlm.nih.gov/26781405/ A lung disease characterized by inadequate gas exchange by the respiratory system. DOID:11391 DOID:11392 DOID:11393 ICD10CM:J96.0 ICD9CM:518.81 NCI:C27043 SNOMEDCT_US_2023_03_01:65710008 UMLS_CUI:C0264490 acute and chronic respiratory failure acute respiratory Failure acute-on-chronic respiratory failure chronic respiratory failure respiratory insufficiency/failure disease_ontology DOID:11162 respiratory failure DOID:11162 A lung disease characterized by inadequate gas exchange by the respiratory system. url:http://en.wikipedia.org/wiki/Respiratory_failure primary apnea of newborn disease_ontology DOID:11163 obsolete apnea of prematurity true DOID:11163 ICD10CM:H18.42 ICD9CM:371.43 MESH:C562399 MIM:217500 NCI:C118765 SNOMEDCT_US_2023_03_01:35055000 UMLS_CUI:C0155120 Band-shaped keratopathy disease_ontology DOID:11164 OMIM mapping confirmed by DO. [SN]. band keratopathy DOID:11164 A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body. NCI:C5028 SNOMEDCT_US_2023_03_01:30285000 UMLS_CUI:C0043037 disease_ontology DOID:11165 common wart DOID:11165 A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body. url:http://en.wikipedia.org/wiki/Wart A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact. MESH:D030361 HPV disease_ontology DOID:11166 Human papillomavirus infectious disease DOID:11166 A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact. url:https://pubmed.ncbi.nlm.nih.gov/28964706/ HPV An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts. Condyloma of the Cervix Uteri disease_ontology DOID:11167 obsolete uterine cervix condylomata acuminata true DOID:11167 An anogenital venereal wart that results_in infection located_in cervix, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom cervical warts. url:http://emedicine.medscape.com/article/781735-overview A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts. DOID:7877 ICD10CM:A63.0 ICD9CM:078.11 MESH:D003218 NCI:C2960 NCI:C4820 SNOMEDCT_US_2023_03_01:240542006 SNOMEDCT_US_2023_03_01:302812006 UMLS_CUI:C0009663 UMLS_CUI:C0554632 Anogenital Human papilloma Virus Infectious Disease Anogenital warts Genital warts genital wart virus infectious disease venereal wart disease_ontology Condyloma acuminatum DOID:11168 anogenital venereal wart DOID:11168 A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194d.html An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts. vaginal Condyloma Acuminatum disease_ontology DOID:11169 obsolete vaginal condylomata acuminata true DOID:11169 An anogenital venereal wart that results_in infection located_in mucosa of vagina, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vaginal warts. url:http://emedicine.medscape.com/article/781735-overview An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts. Condyloma acuminata of vulva (disorder) Vulvar Condyloma disease_ontology DOID:11170 obsolete vulvar condylomata acuminata true DOID:11170 An anogenital venereal wart that results_in infection located_in skin of vulva, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom vulvar warts. url:http://emedicine.medscape.com/article/781735-overview An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts. urethral Condylomata disease_ontology DOID:11171 obsolete urethral condylomata acuminata true DOID:11171 An anogenital venereal wart that results_in infection located_in skin of urethra, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct sexual contact with the skin of an infected partner. The infection has_symptom urethral warts. url:http://emedicine.medscape.com/article/781735-overview An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts. Condylomata of anus disease_ontology DOID:11172 obsolete anal condylomata acuminata true DOID:11172 An anogenital venereal wart that results_in infection located_in skin of anus, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during anal sex with an infected partner. The infection has_symptom anal warts. url:http://emedicine.medscape.com/article/781735-overview ICD10CM:H05.4 ICD9CM:376.5 MESH:D015841 NCI:C79552 SNOMEDCT_US_2023_03_01:267746003 UMLS_CUI:C0014306 disease_ontology DOID:11175 enophthalmos DOID:11175 ICD9CM:367.52 SNOMEDCT_US_2023_03_01:193630009 UMLS_CUI:C0152197 disease_ontology DOID:11177 total internal ophthalmoplegia DOID:11177 A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media. Glue ear Mucoid otitis media Mucoid otitis media NOS (disorder) Otitis media with effusion Otitis media with effusion - mucoid Otitis media, transudative Secretory Otitis Media Transudative otitis media disease_ontology DOID:11179 obsolete otitis media with effusion true DOID:11179 A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media. url:http://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion A otitis media which involves transudation of fluid in the middle ear without pus formation. ICD10CM:H65 ICD9CM:381.4 SNOMEDCT_US_2023_03_01:275481002 UMLS_CUI:C0271446 Nonsuppurative otitis media disease_ontology DOID:11180 non-suppurative otitis media DOID:11180 A otitis media which involves transudation of fluid in the middle ear without pus formation. url:http://www.ncbi.nlm.nih.gov/sites/entrez/1195971 A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment. ICD10CM:H65.2 ICD9CM:381.1 SNOMEDCT_US_2023_03_01:81564005 UMLS_CUI:C0155421 disease_ontology DOID:11181 serous glue ear DOID:11181 A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment. url:http://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting. disease_ontology DOID:11182 obsolete chronic otitis media with effusion true DOID:11182 A non-suppurative otitis media and eustachian tube disorder which is persistent and long-lasting. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false Hemophilus influenzae septicemia (disorder) Septicemia due to H. influenzae Septicemia due to hemophilus influenzae [H. influenzae] disease_ontology DOID:11183 obsolete Haemophilus influenzae septicemia true DOID:11183 ICD10CM:H10.02 ICD9CM:372.03 UMLS_CUI:C0029668 disease_ontology DOID:11184 acute conjunctivitis DOID:11184 A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses. ICD10CM:B48.2 ICD9CM:117.6 SNOMEDCT_US_2023_03_01:80936003 UMLS_CUI:C0153285 Petriellidosis disease_ontology DOID:11186 allescheriosis DOID:11186 A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses. url:https://pubmed.ncbi.nlm.nih.gov/934264/ ICD10CM:K04.2 ICD9CM:522.2 NCI:C34962 SNOMEDCT_US_2023_03_01:22361007 UMLS_CUI:C0034100 disease_ontology DOID:11189 pulp degeneration DOID:11189 DOID:10214 DOID:1118 Excessive fetal growth affecting management of mother, delivered Excessive fetal growth, affecting management of mother, antepartum Excessive fetal growth, affecting management of mother, delivered antepartum excessive fetal growth affecting management of mother disease_ontology DOID:1119 obsolete large for dates affecting management of mother true DOID:1119 A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid. ICD10CM:H10.22 ICD9CM:372.04 NCI:C35196 SNOMEDCT_US_2023_03_01:267643002 UMLS_CUI:C0155144 disease_ontology DOID:11190 pseudomembranous conjunctivitis DOID:11190 A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid. url:http://bjo.bmj.com/content/55/5/312.full.pdf url:https://www.ncbi.nlm.nih.gov/pubmed/9400798 A synostosis that results_in the fusion of two or more digits. GARD:13181 ICD10CM:Q70 ICD9CM:755.1 MESH:D013576 NCI:C87125 ORDO:295012 ORDO:90025 ORDO:93403 SNOMEDCT_US_2023_03_01:156989004 UMLS_CUI:C0039075 symphalangism symphalangy webbing of digits disease_ontology DOID:11193 Xref MGI. syndactyly MESH:D013576 DOID:11193 A synostosis that results_in the fusion of two or more digits. url:http://en.wikipedia.org/wiki/Syndactyly url:http://www.hmc.psu.edu/healthinfo/pq/poly.htm url:http://www.wheelessonline.com/ortho/syndactyly An upper respiratory tract disease which involves inflammation of both larynx and pharynx. ICD10CM:J06.0 ICD9CM:465.0 SNOMEDCT_US_2023_03_01:55355000 UMLS_CUI:C0155817 disease_ontology DOID:11195 acute laryngopharyngitis DOID:11195 An upper respiratory tract disease which involves inflammation of both larynx and pharynx. url:https://www.merriam-webster.com/medical/laryngopharyngitis A viral acute conjunctivitis that is characterized by conjunctival inflammation and serous discharge. ICD10CM:H10.23 ICD9CM:372.01 SNOMEDCT_US_2023_03_01:9824006 UMLS_CUI:C0155142 serous conjunctivitis, except viral disease_ontology DOID:11197 serous conjunctivitis except viral DOID:11197 A viral acute conjunctivitis that is characterized by conjunctival inflammation and serous discharge. url:https://www.aafp.org/afp/1998/0215/p735.html A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. GARD:10299 ICD10CM:D82.1 ICD9CM:279.11 MESH:D004062 MIM:188400 NCI:C2989 SNOMEDCT_US_2023_03_01:190991007 UMLS_CUI:C0012236 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome disease_ontology DOID:11198 OMIM mapping confirmed by DO. [SN]. DiGeorge syndrome DOID:11198 A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome url:https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. GARD:6733 ICD10CM:E20 ICD9CM:252.1 MESH:D007011 NCI:C78350 ORDO:2238 SNOMEDCT_US_2023_03_01:154697005 UMLS_CUI:C0020626 disease_ontology DOID:11199 Xref MGI. hypoparathyroidism MESH:D007011 DOID:11199 A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. url:http://en.wikipedia.org/wiki/Hypoparathyroidism url:http://ghr.nlm.nih.gov/glossary=hypoparathyroidism url:http://www.mayoclinic.org/diseases-conditions/hypoparathyroidism/basics/definition/con-20030780?_ga=1.221847067.2017809229.1415219956 DOID:111 DOID:13536 DOID:14031 GARD:6384 ICD10CM:I85.01 ICD9CM:456.0 ICD9CM:456.2 ICD9CM:456.20 NCI:C78282 SNOMEDCT_US_2023_03_01:195475003 SNOMEDCT_US_2023_03_01:195643006 SNOMEDCT_US_2023_03_01:236067006 UMLS_CUI:C0155789 UMLS_CUI:C0155791 UMLS_CUI:C0155792 Bleeding esophageal varices Bleeding oesophageal varices esophageal varices esophageal varices in disease classified elsewhere, with bleeding esophageal varices with bleeding esophageal varices with bleeding in disease EC esophageal varices without bleeding esophageal varices without mention of bleeding disease_ontology DOID:112 esophageal varix DOID:112 A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells. DOID:613 NCI:C27145 NCI:C27872 SNOMEDCT_US_2023_03_01:402792003 UMLS_CUI:C1274233 UMLS_CUI:C1333147 T cell immunodeficiency T lymphocyte deficiency T lymphocyte immunodeficiency disease_ontology DOID:11200 T cell deficiency DOID:11200 A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells. url:https://en.wikipedia.org/wiki/T_cell_deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/18755723 An endocrine system disease that is located_in the parathyroid gland. ICD10CM:E21.5 ICD9CM:252.9 MESH:D010279 NCI:C26844 SNOMEDCT_US_2023_03_01:73132005 UMLS_CUI:C0030517 disease of parathyroid glands disease_ontology DOID:11201 parathyroid gland disease DOID:11201 An endocrine system disease that is located_in the parathyroid gland. url:http://en.wikipedia.org/wiki/Parathyroid_disease A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood. DOID:14790 GARD:8612 ICD10CM:E21.0 ICD9CM:252.01 MESH:D049950 MIM:600166 NCI:C48280 ORDO:99878 SNOMEDCT_US_2023_03_01:190452007 SNOMEDCT_US_2023_03_01:54920000 UMLS_CUI:C0221002 UMLS_CUI:C0271846 familial primary hyperparathyroidism disease_ontology DOID:11202 Xref MGI. primary hyperparathyroidism DOID:11202 A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood. url:https://rarediseases.org/rare-diseases/primary-hyperparathyroidism/ ICD10CM:H10.1 ICD9CM:372.05 NCI:C34353 SNOMEDCT_US_2023_03_01:193863004 UMLS_CUI:C0001309 Angelucci syndrome acute atopic conjunctivitis disease_ontology DOID:11203 Angelucci's syndrome DOID:11203 A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant. MESH:D003233 NCI:C34506 SNOMEDCT_US_2023_03_01:231854006 UMLS_CUI:C0009766 disease_ontology DOID:11204 allergic conjunctivitis DOID:11204 A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant. url:http://en.wikipedia.org/wiki/Allergic_conjunctivitis ls:IEDB A substance abuse that involves the recurring use of opioid drugs despite negative consequences. ICD10CM:F11.1 ICD9CM:305.5 MESH:D009293 SNOMEDCT_US_2023_03_01:5602001 UMLS_CUI:C0029095 disease_ontology DOID:11206 opioid abuse DOID:11206 A substance abuse that involves the recurring use of opioid drugs despite negative consequences. url:http://en.wikipedia.org/wiki/Opioid A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. ICD9CM:743.21 MIM:231300 SNOMEDCT_US_2023_03_01:204116009 UMLS_CUI:C0311251 primary congenital glaucoma 3A simple buphthalmos disease_ontology DOID:11211 OMIM mapping confirmed by DO. [LS]. buphthalmos DOID:11211 A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. url:https://www.ncbi.nlm.nih.gov/books/NBK1135/ A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. ICD10CM:Q15.0 MESH:D006871 NCI:C50648 SNOMEDCT_US_2023_03_01:392368005 UMLS_CUI:C0020302 disease_ontology DOID:11212 hydrophthalmos DOID:11212 A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. url:https://www.ncbi.nlm.nih.gov/books/NBK1135/ A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus. NCI:C35704 SNOMEDCT_US_2023_03_01:240066005 UMLS_CUI:C1313983 Contagious opthalmia Pink eye Pinkeye disease_ontology DOID:11213 acute contagious conjunctivitis DOID:11213 A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus. url:https://www.aafp.org/afp/1998/0215/p735.html DOID:12565 DOID:14540 Premature rupture of membranes - delivered (disorder) antepartum premature rupture of membranes delivered premature rupture of membranes disease_ontology DOID:11215 obsolete premature rupture of the fetal membranes true DOID:11215 ICD10CM:H73.1 ICD9CM:384.1 SNOMEDCT_US_2023_03_01:89723004 UMLS_CUI:C0395849 disease_ontology DOID:11217 chronic tympanitis DOID:11217 An acute conjunctivitis characterized by conjunctival folliculosis and follicular hypertrophy of the palpebral conjunctivae. ICD10CM:H10.01 ICD9CM:372.02 SNOMEDCT_US_2023_03_01:41308008 UMLS_CUI:C0155143 acute follicular conjunctivitis disease_ontology DOID:11219 conjunctival folliculosis DOID:11219 An acute conjunctivitis characterized by conjunctival folliculosis and follicular hypertrophy of the palpebral conjunctivae. url:https://www.ajo.com/article/S0002-9394(21)90838-9/abstract Spinal enthesopathy (disorder) disease_ontology DOID:1122 obsolete spinal enthesopathy true DOID:1122 DOID:11224 SNOMEDCT_US_2023_03_01:280991008 UMLS_CUI:C0267502 Diverticulosis of small intestine with hemorrhage disease_ontology DOID:11223 small intestine diverticulitis DOID:11223 A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 (Enterovirus coxsackiepol) or has_material_basis_in Human enterovirus 70 (Enterovirus deconjuncti), which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis. ICD9CM:077.4 MESH:D003232 NCI:C34505 SNOMEDCT_US_2023_03_01:186677009 UMLS_CUI:C0009765 Apollo disease Epidemic hemorrhagic conjunctivitis disease_ontology viral conjunctivitis DOID:11227 acute hemorrhagic conjunctivitis DOID:11227 A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 (Enterovirus coxsackiepol) or has_material_basis_in Human enterovirus 70 (Enterovirus deconjuncti), which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis. url:https://en.wikipedia.org/wiki/Acute_hemorrhagic_conjunctivitis GARD:4971 MESH:D025242 SNOMEDCT_US_2023_03_01:8847002 UMLS_CUI:C0949691 spondarthropathy spondylarthrosis disease_ontology DOID:1123 spondyloarthropathy DOID:1123 ICD10CM:H05.0 ICD9CM:376.0 SNOMEDCT_US_2023_03_01:20551005 UMLS_CUI:C0155256 acute inflammation of orbit disease_ontology DOID:11230 acute orbital inflammation DOID:11230 An acute orbital inflammation that is characterized by inflammation of the periosteum of the orbit. ICD10CM:H05.03 ICD9CM:376.02 SNOMEDCT_US_2023_03_01:65974003 UMLS_CUI:C0155257 disease_ontology DOID:11231 orbital periostitis DOID:11231 An acute orbital inflammation that is characterized by inflammation of the periosteum of the orbit. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919808/ An acute orbital inflammation that is characterized by inflammation of the medullary cavity of orbital bone that eventually spreads to the periosteum. ICD10CM:H05.02 ICD9CM:376.03 SNOMEDCT_US_2023_03_01:65875003 UMLS_CUI:C0155258 disease_ontology DOID:11232 orbital osteomyelitis DOID:11232 An acute orbital inflammation that is characterized by inflammation of the medullary cavity of orbital bone that eventually spreads to the periosteum. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249811/ An acute orbital inflammation that is characterized by inflammation of the capsule of Tenon. ICD9CM:376.04 SNOMEDCT_US_2023_03_01:8976003 UMLS_CUI:C0155259 Tenonitis disease_ontology DOID:11233 orbital tenonitis DOID:11233 An acute orbital inflammation that is characterized by inflammation of the capsule of Tenon. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2884909/ An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision. ICD10CM:H05.01 ICD9CM:376.01 MESH:D054517 NCI:C99000 SNOMEDCT_US_2023_03_01:194005002 UMLS_CUI:C0149507 disease_ontology DOID:11234 orbital cellulitis DOID:11234 An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision. url:https://en.wikipedia.org/wiki/Tenonitis An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear. ICD10CM:H74.1 ICD9CM:385.1 SNOMEDCT_US_2023_03_01:7699004 UMLS_CUI:C0155478 chronic adhesive otitis media disease_ontology DOID:11235 adhesive otitis media DOID:11235 An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear. url:https://en.wikipedia.org/wiki/Otitis_media#Adhesive_otitis_media A intestinal cancer that is located_in the appendix. ICD10CM:C18.1 ICD9CM:153.5 MESH:D001063 NCI:C9333 SNOMEDCT_US_2023_03_01:93679002 UMLS_CUI:C0496779 cancer of the appendix malignant neoplasm of appendix vermiformis malignant tumor of appendix malignant tumor of the appendix disease_ontology DOID:11239 appendix cancer DOID:11239 A intestinal cancer that is located_in the appendix. url:http://en.wikipedia.org/wiki/Vermiform_appendix MESH:D001063 NCI:C4434 SNOMEDCT_US_2023_03_01:126846004 UMLS_CUI:C0003614 appendix neoplasm neoplasm of appendix disease_ontology DOID:11240 appendiceal neoplasm DOID:11240 NCI:C5513 SNOMEDCT_US_2023_03_01:1153357001 UMLS_CUI:C1332328 Appendiceal Lymphoma disease_ontology DOID:11241 appendix lymphoma DOID:11241 ICD10CM:P61.1 ICD9CM:776.4 NCI:C27069 SNOMEDCT_US_2023_03_01:32984002 UMLS_CUI:C0272153 Neonatal polycythemia disease_ontology DOID:11242 plethora of newborn DOID:11242 A neonatal anemia that is characterized by anemia experienced by preterm infants in the early postnatal weeks. ICD10CM:P61.2 ICD9CM:776.6 NCI:C97167 SNOMEDCT_US_2023_03_01:47100003 UMLS_CUI:C0158996 disease_ontology DOID:11243 anemia of prematurity DOID:11243 A neonatal anemia that is characterized by anemia experienced by preterm infants in the early postnatal weeks. url:https://pubmed.ncbi.nlm.nih.gov/20463861/ url:https://www.nature.com/articles/s41372-021-00992-0 An anemia that is characterized by a lower red blood cell count than normal in neonates. MESH:D000751 SNOMEDCT_US_2023_03_01:111468003 UMLS_CUI:C0002891 anaemia neonatal anemia neonatal neonatal anaemia disease_ontology DOID:11244 neonatal anemia DOID:11244 An anemia that is characterized by a lower red blood cell count than normal in neonates. url:https://my.clevelandclinic.org/health/diseases/15698-anemia-in-newborns ICD10CM:P61.5 ICD9CM:776.7 SNOMEDCT_US_2023_03_01:55444004 UMLS_CUI:C0158997 disease_ontology DOID:11245 transient neonatal neutropenia DOID:11245 ICD10CM:P60 ICD9CM:776.2 NCI:C111856 SNOMEDCT_US_2023_03_01:34417008 UMLS_CUI:C0158992 Disseminated intravascular coagulation in newborn disease_ontology DOID:11246 DIC in newborn DOID:11246 ICD10CM:D65 ICD9CM:286.6 MESH:D004211 NCI:C2992 SNOMEDCT_US_2023_03_01:67406007 UMLS_CUI:C0012739 DIC Defibrination syndrome Diffuse or disseminated intravascular coagulation disease_ontology DOID:11247 disseminated intravascular coagulation DOID:11247 DIC Hemorrhagic diathesis of newborn Hemorrhagic disease of newborn Hemorrhagic disease of the newborn due to vitamin K deficiency (disorder) hemorrhagic disease of newborn disease_ontology DOID:11248 obsolete hemorrhagic disease of newborn true DOID:11248 A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications. ICD10CM:E56.1 ICD9CM:269.0 MESH:D014813 NCI:C99108 SNOMEDCT_US_2023_03_01:52675005 UMLS_CUI:C0042880 deficiency of vitamin K vitamin K deficiency vitamin K deficiency hemorrhagic disease disease_ontology DOID:11249 vitamin K deficiency bleeding DOID:11249 A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications. url:https://en.wikipedia.org/wiki/Haemorrhagic_disease_of_the_newborn url:https://medlineplus.gov/ency/article/007320.htm url:https://www.cdc.gov/ncbddd/vitamink/facts.html url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592002/ An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear. MESH:C562385 MIM:206200 SNOMEDCT_US_2023_03_01:722005000 UMLS_CUI:C0085576 disease_ontology DOID:11252 OMIM mapping confirmed by DO. [SN]. microcytic anemia DOID:11252 An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear. url:https://pubmed.ncbi.nlm.nih.gov/1578956/ url:https://www.ncbi.nlm.nih.gov/books/NBK470252/ An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses. ICD10CM:A75.1 ICD9CM:081.1 MESH:D014438 SNOMEDCT_US_2023_03_01:47761007 UMLS_CUI:C0006181 Brill Zinsser disease Brill's disease Recrudescent typhus disease_ontology Latent typhus Sporadic typhus DOID:11254 Brill-Zinsser disease DOID:11254 An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses. url:http://en.wikipedia.org/wiki/Epidemic_typhus A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites. DOID:11255 DOID:12353 GARD:7833 ICD10CM:A75.0 ICD10CM:A75.2 ICD10CM:A75.9 ICD9CM:080 ICD9CM:081.0 ICD9CM:081.9 MESH:D014437 MESH:D014438 NCI:C84688 NCI:C84689 SNOMEDCT_US_2023_03_01:154375001 SNOMEDCT_US_2023_03_01:25668000 SNOMEDCT_US_2023_03_01:39111003 UMLS_CUI:C0041471 UMLS_CUI:C0041472 UMLS_CUI:C0041473 Endemic Typhus fever Exanthematic Typhus fever Flea typhus Louse-borne [epidemic] typhus Moscow typhus Murine [endemic] typhus Typhus fever endemic flea-borne typhus epidemic louse-borne typhus disease_ontology Classical typhus Epidemic (louse-borne) typhus Epidemic louse-borne typhus fever due to Rickettsia prowazekii European typhus Exanthematous typhus Famine fever Flea-borne rickettsiosis Flea-borne typhus Hospital fever Jail fever Louse-borne rickettsiosis Louse-borne typhus Mexican typhus Murine typhus Petechial fever Prison fever Rat flea typhus Ship fever Shop typhus Typhus exanthematique Urban typhus DOID:11256 typhus DOID:11256 A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites. url:https://en.wikipedia.org/wiki/Typhus A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people. ICD10CM:F40.1 ICD9CM:300.23 MESH:D000072861 NCI:C34927 SNOMEDCT_US_2023_03_01:192395002 UMLS_CUI:C0031572 disease_ontology DOID:11257 social phobia DOID:11257 A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people. url:http://en.wikipedia.org/wiki/Social_phobia A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain. ICD10CM:A28.1 ICD9CM:078.3 MESH:D002372 NCI:C84620 SNOMEDCT_US_2023_03_01:123319006 UMLS_CUI:C0007361 Debre's Syndrome Debre-Mollaret Syndrome Foshay-Mollaret Cat Scratch Fever benign lymphoreticulosis cat scratch fever disease_ontology DOID:11258 cat-scratch disease DOID:11258 A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain. url:http://en.wikipedia.org/wiki/Cat_scratch_disease url:http://kidshealth.org/parent/infections/bacterial_viral/cat_scratch.html# A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions. Cytomagalovirus infection Cytomegaloviral disease Cytomegaloviral disease, unspecified Cytomegaloviral disease, unspecified (disorder) Cytomegalovirus infection (disorder) Salivary gland virus disease cytomegalovirus infection disease_ontology DOID:11259 obsolete Cytomegalovirus infectious disease true DOID:11259 A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions. url:http://en.wikipedia.org/wiki/Cytomegalovirus A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in viruses in the genus Lyssavirus, which are transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis. Most human cases of rabies are caused by the Rabies virus (Lyssavirus rabies) transmitted from dogs. GARD:7516 ICD10CM:A82 ICD9CM:071 MESH:D011818 NCI:C28182 SNOMEDCT_US_2023_03_01:14168008 UMLS_CUI:C0034494 Lyssa disease_ontology DOID:11260 rabies DOID:11260 A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in viruses in the genus Lyssavirus, which are transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis. Most human cases of rabies are caused by the Rabies virus (Lyssavirus rabies) transmitted from dogs. url:http://en.wikipedia.org/wiki/Rabies url:https://www.cdc.gov/yellow-book/hcp/travel-associated-infections-diseases/rabies.html A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness. Epizootic stomatitis disease_ontology DOID:11261 obsolete foot and mouth disease true DOID:11261 A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia. ICD10CM:A70 ICD9CM:073 MESH:D009956 NCI:C34873 SNOMEDCT_US_2023_03_01:154369005 UMLS_CUI:C0029291 psittacosis disease_ontology DOID:11262 ornithosis DOID:11262 A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia. url:http://en.wikipedia.org/wiki/Psittacosis A commensal bacterial infectious disease that is caused by Chlamydia trachomatis. MESH:D002689 Chlamydia trachomatis infectious disease Chlamydial Infection chlamydial disease disease_ontology DOID:11263 chlamydia DOID:11263 A commensal bacterial infectious disease that is caused by Chlamydia trachomatis. url:http://en.wikipedia.org/wiki/Chlamydia_infection disease_ontology DOID:11264 obsolete Chlamydophila infectious disease true DOID:11264 A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea. DOID:13013 DOID:13264 GARD:10374 ICD10CM:A71 ICD10CM:A71.0 ICD10CM:A71.1 ICD9CM:076 ICD9CM:076.0 ICD9CM:076.1 MESH:D014141 SNOMEDCT_US_2023_03_01:154367007 SNOMEDCT_US_2023_03_01:29976007 SNOMEDCT_US_2023_03_01:52812002 UMLS_CUI:C0040592 UMLS_CUI:C0153107 UMLS_CUI:C0153108 active stage trachoma trachoma dubium disease_ontology DOID:11265 trachoma DOID:11265 A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea. url:http://en.wikipedia.org/wiki/Trachoma url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/trachoma_t.htm url:http://www.who.int/blindness/causes/priority/en/index2.html A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure. GARD:18689 ICD10CM:A98.5 ICD9CM:078.6 MESH:D006480 NCI:C84753 ORDO:340 SNOMEDCT_US_2025_05_01:716864001 UMLS_CUI:C0019101 HFRS Hemorrhagic fever, Russian Hemorrhagic nephrosonephritis Puumala virus nephropathy hemorrhagic fever renal syndrome disease_ontology DOID:11266 Hantavirus hemorrhagic fever with renal syndrome GARD:18689 ICD10CM:A98.5 ICD9CM:078.6 MESH:D006480 NCI:C84753 ORDO:340 UMLS_CUI:C0019101 DOID:11266 MESH:C535630 UMLS_CUI:C2930957 A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure. url:https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome url:https://www.cdc.gov/hantavirus/about/ HFRS GARD:6825 ICD10CM:H18.44 ICD9CM:371.45 MESH:C536156 SNOMEDCT_US_2023_03_01:85149007 UMLS_CUI:C0152455 disease_ontology DOID:11267 keratomalacia DOID:11267 vitamin A deficiency with keratomalacia (disorder) disease_ontology DOID:11268 obsolete vitamin A deficiency with keratomalacia true DOID:11268 ICD10CM:K04.5 ICD9CM:522.6 SNOMEDCT_US_2023_03_01:718052004 UMLS_CUI:C0392492 disease_ontology DOID:11269 chronic apical periodontitis DOID:11269 DOID:11270 DOID:14011 DOID:14012 hypertension secondary to renal disease, antepartum hypertension secondary to renal disease, postpartum hypertension secondary to renal disease, with delivery disease_ontology DOID:11271 obsolete hypertension secondary to renal disease, complicating pregnancy, childbirth and the puerperium true DOID:11271 Syphilis of muscle (disorder) disease_ontology DOID:11275 obsolete muscle syphilis true DOID:11275 ICD10CM:E05.2 ICD9CM:242.3 NCI:C35171 SNOMEDCT_US_2023_03_01:57777000 UMLS_CUI:C0342127 Plummer disease toxic nodular goiter disease_ontology DOID:11277 Plummer's disease DOID:11277 ICD10CM:H31.02 ICD9CM:363.31 SNOMEDCT_US_2023_03_01:1135000 UMLS_CUI:C0152131 Solar retinitis disease_ontology DOID:11282 solar retinopathy DOID:11282 ICD9CM:363.34 UMLS_CUI:C0154888 disease_ontology DOID:11283 peripheral scars of retina DOID:11283 disease_ontology DOID:11284 obsolete disseminated scars of retina true DOID:11284 A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage. GARD:7771 MESH:D013985 SNOMEDCT_US_2023_03_01:74225001 UMLS_CUI:C0040197 disease_ontology DOID:11285 tick paralysis MESH:D013985 DOID:11285 A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage. url:http://www.cdc.gov/mmwr/preview/mmwrhtml/00040975.htm url:http://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm url:https://www.ncbi.nlm.nih.gov/pubmed/10428629 Toxic myoneural disorder Toxic myoneural junction disorder disease_ontology DOID:11286 obsolete neuromuscular junction toxic disorder true DOID:11286 disease_ontology DOID:11287 obsolete conditions involving the integument and temperature regulation of fetus and newborn true DOID:11287 An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. ICD10CM:J67.7 ICD9CM:495.7 SNOMEDCT_US_2023_03_01:48347002 UMLS_CUI:C0155891 Air-conditioner and humidifier lung Humidifier lung disease_ontology DOID:11289 ventilation pneumonitis DOID:11289 An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. url:http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf MESH:D010899 NCI:C26853 SNOMEDCT_US_2023_03_01:237701005 UMLS_CUI:C0032001 disease_ontology DOID:1129 pituitary apoplexy DOID:1129 A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. ICD10CM:I77.0 ICDO:9123/0 NCI:C2882 SNOMEDCT_US_2023_03_01:403966009 UMLS_CUI:C0334533 Arteriovenous hemangioma Cirsoid aneurysm Racemose Angioma Racemose aneurysm Racemose hemangioma disease_ontology DOID:11294 arteriovenous malformation DOID:11294 A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. url:http://en.wikipedia.org/wiki/Arteriovenous_malformation ICD9CM:362.14 MESH:D000071071 SNOMEDCT_US_2023_03_01:34037000 UMLS_CUI:C0154834 disease_ontology DOID:11295 retinal microaneurysm DOID:11295 ICD10CM:I65.0 ICD9CM:433.2 UMLS_CUI:C0155724 Occlusion and stenosis of vertebral artery disease_ontology DOID:11299 vertebral artery occlusion DOID:11299 disease_ontology DOID:113 obsolete pneumopericardium true DOID:113 NCI:C27117 SNOMEDCT_US_2023_03_01:95830009 UMLS_CUI:C0342405 Pituitary infarction disease_ontology DOID:1130 pituitary infarct DOID:1130 A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection. GARD:9747 ICD10CM:B65.3 ICD9CM:120.3 NCI:C34457 SNOMEDCT_US_2023_03_01:187115002 UMLS_CUI:C0546996 Cutaneous schistosomiasis Sea bather's eruption disease_ontology DOID:11302 cercarial dermatitis DOID:11302 A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection. url:https://en.wikipedia.org/wiki/Swimmer%27s_itch url:https://www.cdc.gov/parasites/swimmersitch/index.html disease_ontology DOID:11307 obsolete subchronic state latent schizophrenia with acute exacerbation true DOID:11307 Latent schizophrenia in remission (disorder) Latent schizophrenia, in remission disease_ontology DOID:11308 obsolete latent schizophrenia in remission true DOID:11308 Latent chronic Schizophrenia Latent schizophrenia, chronic state chronic latent schizophrenia (disorder) disease_ontology DOID:11309 obsolete chronic latent schizophrenia true DOID:11309 ICD9CM:426.12 NCI:C62018 SNOMEDCT_US_2023_03_01:28189009 UMLS_CUI:C0155700 Mobitz (type) II atrioventricular block Mobitz II atrioventricular block disease_ontology DOID:11312 Mobitz type II atrioventricular block DOID:11312 An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions. Histoplasma duboisii with retinitis (disorder) disease_ontology DOID:11314 obsolete Histoplasma duboisii retinitis true DOID:11314 An African histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of lesions. url:https://www.ncbi.nlm.nih.gov/pubmed/1945308 A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions. ICD9CM:115.10 UMLS_CUI:C0153270 disease_ontology DOID:11315 African histoplasmosis DOID:11315 A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions. url:http://www.cdc.gov/eid/content/13/11/1647.htm ICD9CM:115.92 SNOMEDCT_US_2023_03_01:187058000 UMLS_CUI:C0153278 Histoplasmosis with retinitis disease_ontology DOID:11316 histoplasmosis retinitis DOID:11316 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus (Orthoflavivirus kyasanurense), which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems. GARD:8257 ICD10CM:A98.2 ICD9CM:065.2 MESH:D007733 SNOMEDCT_US_2023_03_01:23097003 UMLS_CUI:C0022810 disease_ontology DOID:11320 Kyasanur forest disease DOID:11320 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus (Orthoflavivirus kyasanurense), which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems. url:http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/kyasanur.htm url:https://pmc.ncbi.nlm.nih.gov/articles/PMC11650908/ url:https://www.cdc.gov/kyasanur/about/ disease_ontology DOID:11327 obsolete acute schizophrenic episode subchronic state with acute exacerbation true DOID:11327 A psychotic disorder that involves schizophrenia symptoms over time period of one month. ICD10CM:F20.81 ICD9CM:295.4 MESH:D011618 NCI:C94376 SNOMEDCT_US_2023_03_01:88975006 UMLS_CUI:C0036358 disease_ontology DOID:11328 schizophreniform disorder DOID:11328 A psychotic disorder that involves schizophrenia symptoms over time period of one month. url:http://en.wikipedia.org/wiki/Schizophreniform_disorder A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later. GARD:9512 ICD10CM:L94.6 ICD9CM:136.0 MESH:D000387 MIM:103400 NCI:C84544 SNOMEDCT_US_2023_03_01:51404004 UMLS_CUI:C0001860 Dactylolysis spontanea disease_ontology DOID:11329 OMIM mapping confirmed by DO. [SN]. ainhum MESH:D000387 DOID:11329 A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later. url:http://en.wikipedia.org/wiki/Ainhum url:https://www.merriam-webster.com/medical/ainhum GARD:6370 ICD10CM:A46 ICD9CM:035 MESH:D004886 SNOMEDCT_US_2023_03_01:266005008 UMLS_CUI:C0014733 disease_ontology DOID:11330 erysipelas DOID:11330 A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. GARD:7607 ICD10CM:D86 ICD9CM:135 MESH:D012507 NCI:C34995 ORDO:797 SNOMEDCT_US_2023_03_01:154425004 UMLS_CUI:C0036202 Boeck sarcoid lymphogranulomatosis disease_ontology DOID:11335 sarcoidosis MESH:D012507 DOID:11335 A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. url:http://en.wikipedia.org/wiki/Sarcoidosis url:http://ghr.nlm.nih.gov/glossary=sarcoidosis url:http://www.mayoclinic.org/diseases-conditions/sarcoidosis/basics/definition/con-20022569?_ga=1.188430891.2017809229.1415219956 A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis. ICD9CM:040.1 MESH:D012226 SNOMEDCT_US_2023_03_01:72409005 UMLS_CUI:C0035468 disease_ontology DOID:11336 rhinoscleroma DOID:11336 A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis. url:http://en.wikipedia.org/wiki/Rhinoscleroma url:https://www.merriam-webster.com/medical/rhinoscleroma A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling. GARD:6882 ICD9CM:040.3 MESH:D005674 SNOMEDCT_US_2023_03_01:52542005 UMLS_CUI:C0027537 Lemierre syndrome human necrobacillosis postanginal sepsis disease_ontology acute sore throat DOID:11337 Lemierre's syndrome DOID:11337 A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling. url:http://en.wikipedia.org/wiki/Fusobacterium_necrophorum url:https://www.merriam-webster.com/medical/necrobacillosis A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. GARD:5144 ICD10CM:A35 ICD9CM:037 MESH:D013742 NCI:C85185 SNOMEDCT_US_2023_03_01:154312006 UMLS_CUI:C0039614 Infection due to Clostridium tetani clostridial tetanus disease_ontology DOID:11338 tetanus DOID:11338 A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. url:http://en.wikipedia.org/wiki/Tetanus An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever. GARD:4386 ICD10CM:B59 ICD9CM:136.3 MESH:D011020 NCI:C3334 SNOMEDCT_US_2023_03_01:57541005 UMLS_CUI:C1535939 Pneumocystis carinii pneumonia Pneumocystis jirovecii pneumonia Pneumocystis pneumonia Pneumocystosis pneumonia pulmonary pneumocystosis disease_ontology DOID:11339 pneumocystosis DOID:11339 An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever. url:http://www.nlm.nih.gov/medlineplus/ency/article/000671.htm url:https://www.merriam-webster.com/dictionary/Pneumocystis%20carinii%20pneumonia#medicalDictionary DOID:1133 DOID:13280 DOID:13901 DOID:2405 ICD10CM:K06.0 ICD10CM:K06.01 ICD9CM:523.2 ICD9CM:523.24 MESH:D005889 NCI:C82068 SNOMEDCT_US_2023_03_01:155645006 SNOMEDCT_US_2023_03_01:59898000 UMLS_CUI:C0017572 UMLS_CUI:C0266916 Gingival recession, localized localized gingival recession minimal gingival recession moderate gingival recession severe gingival recession disease_ontology DOID:1134 gingival recession DOID:1134 An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions. Infection by Pneumocystis carinii (disorder) disease_ontology DOID:11340 obsolete Pneumocystis infectious disease true DOID:11340 An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions. url:http://www.dpd.cdc.gov/dpdx/html/pneumocystis.htm A lung disease that is a mycosis caused by fungal growth in the lungs. disease_ontology DOID:11341 obsolete fungal lung infectious disease true DOID:11341 A lung disease that is a mycosis caused by fungal growth in the lungs. url:http://en.wikipedia.org/wiki/Fungal_infection ICD10CM:H18.41 MESH:D001112 MIM:107800 SNOMEDCT_US_2023_03_01:155159000 UMLS_CUI:C0003742 Arcus of cornea corneal arcus disease_ontology DOID:11342 OMIM mapping confirmed by DO. [SN]. arcus senilis DOID:11342 An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball. ICD10CM:H15 MESH:D015422 NCI:C79717 SNOMEDCT_US_2023_03_01:33064008 UMLS_CUI:C0036412 disease_ontology DOID:11343 scleral disease DOID:11343 An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C79717 disease_ontology DOID:11346 obsolete congenital osteodystrophy true DOID:11346 Inactive Meniere's disease Mnire's disease in remission disease_ontology DOID:11347 obsolete Meniere's disease in remission true DOID:11347 disease_ontology DOID:11349 obsolete epilepsia partialis continua true DOID:11349 Grand mal status Grand mal status (disorder) Grand mal status, epileptic disease_ontology DOID:11350 obsolete grand mal status epilepticus true DOID:11350 disease_ontology DOID:11352 obsolete epilepsia partialis continua with intractable epilepsy true DOID:11352 ICD10CM:N32.3 ICD9CM:596.3 MESH:C562406 MIM:109820 NCI:C160155 SNOMEDCT_US_2023_03_01:268335001 UMLS_CUI:C0156273 Diverticulum - bladder Diverticulum of bladder disease_ontology DOID:11353 OMIM mapping confirmed by DO. [SN]. bladder diverticulum DOID:11353 ICD10CM:N21.0 ICD9CM:594.0 SNOMEDCT_US_2023_03_01:18109005 UMLS_CUI:C0156265 calculus in diverticulum of bladder disease_ontology DOID:11354 stone in bladder diverticulum DOID:11354 ICD10CM:N21.0 MESH:D001744 SNOMEDCT_US_2023_03_01:155879005 UMLS_CUI:C0005683 disease_ontology DOID:11355 bladder calculus DOID:11355 A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus (Phlebovirus napoliense) or Sandfly fever sicilian virus (Phlebovirus siciliaense), which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia. ICD10CM:A93.1 ICD9CM:066.0 MESH:D010217 SNOMEDCT_US_2025_05_01:407476002 UMLS_CUI:C0030372 Sandfly fever Sandfly-borne arboviral fever Sandfly-borne bunyavirus fever Sandfly-borne phleboviral disease pappataci fever disease_ontology DOID:11360 phlebotomus fever ICD10CM:A93.1 ICD9CM:066.0 MESH:D010217 UMLS_CUI:C0030372 DOID:11360 A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus (Phlebovirus napoliense) or Sandfly fever sicilian virus (Phlebovirus siciliaense), which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia. url:http://en.wikipedia.org/wiki/Pappataci_fever url:https://www.britannica.com/science/pappataci-fever url:https://www.merriam-webster.com/dictionary/sandfly%20fever Tick-borne fever (disorder) Tick-borne fever NOS (disorder) pasture fever tick-borne fever disease_ontology DOID:11361 obsolete tickborne fever true DOID:11361 ICD10CM:H27.11 ICD9CM:379.32 MESH:D007906 NCI:C34772 SNOMEDCT_US_2023_03_01:155203002 UMLS_CUI:C0023316 Subluxation of lens disease_ontology DOID:11364 lens subluxation MESH:D007906 DOID:11364 ICD10CM:Q12.3 ICD9CM:743.35 MIM:610256 NCI:C35172 SNOMEDCT_US_2023_03_01:35387008 UMLS_CUI:C0152422 APHAKIA, CONGENITAL PRIMARY Congenital absence of lens disease_ontology DOID:11367 OMIM mapping confirmed by DO. [SN]. congenital aphakia DOID:11367 ICD10CM:K59.1 ICD9CM:564.5 SNOMEDCT_US_2023_03_01:47812002 UMLS_CUI:C0156173 functional diarrhoea disease_ontology DOID:11371 functional diarrhea DOID:11371 A colonic disease that is characterized by an abnormal dilation of the colon. DOID:1771 ICD10CM:K59.39 MESH:D008531 NCI:C34810 SNOMEDCT_US_2023_03_01:33995003 UMLS_CUI:C0025160 Dilatation of colon disease_ontology DOID:11372 megacolon DOID:11372 A colonic disease that is characterized by an abnormal dilation of the colon. url:http://en.wikipedia.org/wiki/Megacolon ICD10CM:K59.4 ICD9CM:564.6 SNOMEDCT_US_2023_03_01:197136003 UMLS_CUI:C0152167 disease_ontology DOID:11374 anal spasm DOID:11374 DOID:11376 calculus of gallbladder and bile duct with acute cholecystitis, with obstruction disease_ontology DOID:11377 obsolete calculus of gallbladder and bile duct with acute cholecystitis true DOID:11377 A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis. GARD:9286 ICD10CM:B83.1 ICD9CM:128.1 MESH:D058429 NCI:C128395 SNOMEDCT_US_2023_03_01:44086001 UMLS_CUI:C0018013 Gnathostomiasis Infectious Disease by Gnathostoma disease_ontology DOID:11379 gnathomiasis DOID:11379 A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis. url:http://www.dpd.cdc.gov/dpdx/HTML/Gnathostomiasis.htm GARD:10264 MESH:D008579 NCI:C6935 SNOMEDCT_US_2023_03_01:189167009 UMLS_CUI:C0347515 Spinal Cord meningioma disease_ontology DOID:1138 spinal meningioma DOID:1138 ICD10CM:H16.4 ICD9CM:370.6 MESH:D016510 SNOMEDCT_US_2023_03_01:19161004 UMLS_CUI:C0085109 disease_ontology DOID:11382 corneal neovascularization DOID:11382 ICD10CM:Q53.9 ICD9CM:752.51 MESH:D003456 MIM:219050 NCI:C12326 SNOMEDCT_US_2023_03_01:204879009 UMLS_CUI:C0010417 Cryptorchism Undescended testicle Undescended testis undescended testicles disease_ontology DOID:11383 OMIM mapping confirmed by DO. [SN]. cryptorchidism DOID:11383 A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits. ICD10CM:F80.1 ICD9CM:315.31 NCI:C92562 SNOMEDCT_US_2023_03_01:80360005 UMLS_CUI:C0236826 Developmental expressive language disorder disease_ontology DOID:11385 expressive language disorder DOID:11385 A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits. url:http://en.wikipedia.org/wiki/Expressive_language_disorder A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). MESH:D020802 SNOMEDCT_US_2023_03_01:310671007 UMLS_CUI:C0270629 abscess epidural disease_ontology DOID:11387 epidural abscess DOID:11387 A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). url:http://www.nlm.nih.gov/medlineplus/ency/article/001416.htm A central nervous system disease that is characterized by the collection or gathering of pus within the subdural space. MESH:D013354 SNOMEDCT_US_2023_03_01:37660004 UMLS_CUI:C0038539 Subdural abscess disease_ontology DOID:11389 subdural empyema DOID:11389 A central nervous system disease that is characterized by the collection or gathering of pus within the subdural space. url:https://en.wikipedia.org/wiki/Subdural_empyema ICD9CM:437.4 SNOMEDCT_US_2023_03_01:28366008 UMLS_CUI:C0007773 disease_ontology DOID:11390 cerebral arteritis DOID:11390 A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia. GARD:5698 ICD10CM:J80 MESH:D012128 NCI:C3353 SNOMEDCT_US_2023_03_01:155627006 UMLS_CUI:C0035222 ARDS Non-cardiogenic pulmonary edema Shock lung acute respiratory distress syndrome adult RDS disease_ontology DOID:11394 PRISM. adult respiratory distress syndrome DOID:11394 A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia. url:https://www.merriam-webster.com/dictionary/adult%20respiratory%20distress%20syndrome#medicalDictionary url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392788/ ARDS A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. DOID:13472 ICD10CM:J81 MESH:D011654 NCI:C26868 SNOMEDCT_US_2023_03_01:19242006 UMLS_CUI:C0034063 disease_ontology DOID:11396 pulmonary edema DOID:11396 A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. url:https://pubmed.ncbi.nlm.nih.gov/11357010/ A cardiovascular system disease that involves the heart. ICD10CM:I51.9 ICD9CM:429.9 MESH:D006331 NCI:C3079 SNOMEDCT_US_2023_03_01:194707003 UMLS_CUI:C0018799 disease_ontology DOID:114 heart disease DOID:114 A cardiovascular system disease that involves the heart. url:http://en.wikipedia.org/wiki/Heart_disease NCI:C5134 UMLS_CUI:C1334264 disease_ontology DOID:1140 spinal canal and spinal cord meningioma DOID:1140 ICD10CM:N16 ICD9CM:590.80 MESH:D011704 NCI:C34965 SNOMEDCT_US_2023_03_01:45816000 UMLS_CUI:C0034186 disease_ontology DOID:11400 pyelonephritis DOID:11400 MESH:D011705 NCI:C123038 SNOMEDCT_US_2023_03_01:197777006 UMLS_CUI:C0034188 disease_ontology DOID:11401 xanthogranulomatous pyelonephritis DOID:11401 Drug-induced depressive state (disorder) Drug-induced mood disorder disease_ontology DOID:11403 obsolete depressive state induced by drug true DOID:11403 A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough. laryngeal Diphtheria laryngeal diphtheria laryngeal diphtheria (disorder) disease_ontology DOID:11404 obsolete diphtheritic laryngotracheitis true DOID:11404 A diphtheria that involves a bluish white membrane formation on the larynx. It can be an extension of the nasopharyngeal diphtheria. This membrane can lead to airway obstruction, coma, and death. Symptoms include fever, hoarseness, and a barking cough. url:http://www.cdc.gov/Vaccines/vpd-vac/diphtheria/dat/downloads/protocol_032504.pdf url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/dip.pdf A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. DOID:4132 GARD:1875 MESH:D003354 SNOMEDCT_US_2023_03_01:397434007 UMLS_CUI:C0010153 corynebacterium infection disease_ontology DOID:11405 diphtheria DOID:11405 A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. url:http://en.wikipedia.org/wiki/Diphtheria GARD:6062 ICD10CM:H30.9 MESH:D002833 NCI:C35111 SNOMEDCT_US_2023_03_01:16553002 UMLS_CUI:C0008526 disease_ontology DOID:11406 choroiditis DOID:11406 Syphilitic disseminated retinochoroiditis (disorder) disease_ontology DOID:11409 obsolete syphilitic disseminated chorioretinitis true DOID:11409 Alternating exotropia with V pattern (disorder) disease_ontology DOID:1141 obsolete alternating exotropia with V pattern true DOID:1141 A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination. Trichomonal urethritis (disorder) trichomonal urethritis disease_ontology DOID:11418 obsolete Trichomonas urethritis true DOID:11418 A Trichomonas vaginalis trichomoniasis that involves inflammation of the urethra caused by Trichomonas vaginalis, which results in pain during urination. url:http://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm ICD10CM:H50.15 ICD9CM:378.15 MESH:D005099 SNOMEDCT_US_2023_03_01:194093000 UMLS_CUI:C0152207 disease_ontology DOID:1142 alternating exotropia DOID:1142 Cavovarus deformity of foot, acquired acquired cavovarus deformity of foot (disorder) disease_ontology DOID:11421 obsolete acquired cavovarus foot deformity true DOID:11421 A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube. ICD10CM:N80.2 ICD9CM:617.2 NCI:C26763 SNOMEDCT_US_2023_03_01:22611009 UMLS_CUI:C0014177 Endometriosis of fallopian tube disease_ontology DOID:11424 fallopian tube endometriosis DOID:11424 A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube. url:https://en.wikipedia.org/wiki/Endometriosis A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube. NCI:C179646 SNOMEDCT_US_2023_03_01:55850004 UMLS_CUI:C0269106 disease_ontology DOID:11427 endosalpingiosis DOID:11427 A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube. url:https://en.wikipedia.org/wiki/Endosalpingiosis A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine. ICD10CM:N80.5 ICD9CM:617.5 SNOMEDCT_US_2023_03_01:5562006 UMLS_CUI:C0156347 disease_ontology DOID:11428 endometriosis of intestine DOID:11428 A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653346/ A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum. ICD10CM:N80.3 ICD9CM:617.3 SNOMEDCT_US_2023_03_01:198251001 UMLS_CUI:C0156345 disease_ontology DOID:11429 endometriosis of pelvic peritoneum DOID:11429 A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum. url:https://en.wikipedia.org/wiki/Endometriosis ICD10CM:H50.1 ICD9CM:378.1 MESH:D005099 NCI:C34601 SNOMEDCT_US_2023_03_01:155194007 UMLS_CUI:C0015310 Divergent Strabismus Divergent concomitant strabismus disease_ontology DOID:1143 exotropia DOID:1143 A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin. ICD10CM:N80.6 ICD9CM:617.6 SNOMEDCT_US_2023_03_01:53913001 UMLS_CUI:C0156348 disease_ontology DOID:11430 endometriosis in scar of skin DOID:11430 A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin. url:https://en.wikipedia.org/wiki/Endometriosis A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina. ICD10CM:N80.4 ICD9CM:617.4 SNOMEDCT_US_2023_03_01:198253003 UMLS_CUI:C0156346 disease_ontology DOID:11431 endometriosis of rectovaginal septum and vagina DOID:11431 A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina. url:https://en.wikipedia.org/wiki/Endometriosis A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary. DOID:11426 ICD10CM:N80.1 ICD9CM:617.1 NCI:C27628 SNOMEDCT_US_2023_03_01:198250000 UMLS_CUI:C0156344 ovarian endometriosis disease_ontology DOID:11432 endometriosis of ovary DOID:11432 A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary. url:https://en.wikipedia.org/wiki/Endometriosis recurrent cholesteatoma of postmastoidectomy cavity recurrent cholesteatoma of postmastoidectomy cavity (disorder) disease_ontology DOID:11436 obsolete recurrent cholesteatoma post-mastoidectomy true DOID:11436 Macrodactylia of toes (disorder) disease_ontology DOID:11441 obsolete macrodactylia of toes true DOID:11441 Mast cell malignancy of lymph nodes of head, face and neck (disorder) malignant mast cell tumor of lymph nodes of head, face and/or neck (disorder) malignant mast cell tumors involving lymph nodes of head, face, and neck disease_ontology DOID:11442 obsolete malignant mast cell tumors involving lymph node of head true DOID:11442 MESH:D020426 SNOMEDCT_US_2023_03_01:52585001 UMLS_CUI:C0149940 disease_ontology DOID:11446 PRISM. sciatic neuropathy DOID:11446 A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin. Allergic Cutaneous Angiitis Autoimmune Hypersensitivity angiitis disease_ontology DOID:11450 allergic cutaneous vasculitis DOID:11450 A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin. url:https://medlineplus.gov/ency/article/000874.htm sn:IEDB acute secondary syphilitic meningitis (disorder) acute syphilitic meningitis (secondary) secondary acute syphilitic meningitis disease_ontology DOID:11451 obsolete secondary syphilitic meningitis true DOID:11451 ICD9CM:774.4 SNOMEDCT_US_2023_03_01:206463003 UMLS_CUI:C0158976 disease_ontology DOID:11452 perinatal jaundice due to hepatocellular damage DOID:11452 A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain. ICD10CM:G93.5 ICD9CM:348.4 SNOMEDCT_US_2023_03_01:46963008 UMLS_CUI:C0009592 disease_ontology DOID:11457 brain compression DOID:11457 A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain. url:https://en.wikipedia.org/wiki/Brain_herniation GARD:4561 ICD10CM:G93.2 ICD9CM:348.2 MESH:D011559 MIM:243200 NCI:C85035 SNOMEDCT_US_2023_03_01:68267002 UMLS_CUI:C0033845 benign intracranial hypertension idiopathic intracranial hypertension disease_ontology DOID:11459 OMIM mapping confirmed by DO. [SN]. pseudotumor cerebri DOID:11459 A peripheral nervous system disease that is located_in the autonomic nervous system. ICD9CM:337.1 UMLS_CUI:C0154691 autonomic nervous system disorder disease_ontology DOID:11465 autonomic nervous system disease DOID:11465 A peripheral nervous system disease that is located_in the autonomic nervous system. url:https://pubmed.ncbi.nlm.nih.gov/27339825/ ICD10CM:C32.2 ICD9CM:161.2 NCI:C3546 SNOMEDCT_US_2023_03_01:94075002 UMLS_CUI:C0153485 Ca larynx - subglottis malignant Subglottic tumor malignant tumor of subglottis disease_ontology DOID:11472 subglottis cancer DOID:11472 A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength. EFO:0003882 ICD10CM:M81.0 ICD9CM:733.0 MESH:D010024 MIM:166710 NCI:C3298 SNOMEDCT_US_2023_03_01:156825006 UMLS_CUI:C0029456 disease_ontology DOID:11476 Xref MGI. osteoporosis DOID:11476 A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength. url:http://en.wikipedia.org/wiki/Osteoporosis url:http://www.mayoclinic.com/health/osteoporosis/DS00128 url:http://www.niams.nih.gov/Health_Info/Bone/default.asp url:http://www.nlm.nih.gov/medlineplus/ency/article/000360.htm A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot. DOID:14779 GARD:4410 ICD10CM:Q69 ICD9CM:755.0 MESH:C562429 MESH:D017689 MIM:174200 MIM:174700 MIM:603596 NCI:C87110 SNOMEDCT_US_2023_03_01:205119005 UMLS_CUI:C0152427 UMLS_CUI:C0220697 postaxial polydactyly disease_ontology Supernumerary digit DOID:1148 polydactyly DOID:1148 A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot. url:https://en.wikipedia.org/wiki/Polydactyly ICD9CM:423.2 MESH:D010494 NCI:C78246 SNOMEDCT_US_2023_03_01:155340008 UMLS_CUI:C0031048 disease_ontology DOID:11481 constrictive pericarditis DOID:11481 A pericardial effusion that results from blood in the pericardial sac. ICD9CM:423.0 MESH:D010490 NCI:C111644 SNOMEDCT_US_2023_03_01:155339006 UMLS_CUI:C0019064 Haemopericardium disease_ontology DOID:11482 hemopericardium DOID:11482 A pericardial effusion that results from blood in the pericardial sac. url:http://en.wikipedia.org/wiki/Hemopericardium An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics. GARD:6670 ICD10CM:G90.2 MESH:D006732 MIM:143000 NCI:C28155 SNOMEDCT_US_2023_03_01:192922002 UMLS_CUI:C0019937 Bernard Horner syndrome Horner syndrome cervical sympathetic paralysis disease_ontology DOID:11486 Horner's syndrome DOID:11486 An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics. url:https://pubmed.ncbi.nlm.nih.gov/14610154/ ICD10CM:G90.0 ICD9CM:337.0 SNOMEDCT_US_2023_03_01:192914009 UMLS_CUI:C0154690 disease_ontology DOID:11488 idiopathic peripheral autonomic neuropathy DOID:11488 vitamin A deficiency with Bitot's spot AND conjunctival xerosis (disorder) vitamin A deficiency with Bitot's spot AND conjunctival xerosis [dup] (disorder) disease_ontology DOID:11489 obsolete vitamin A deficiency with conjunctival xerosis and Bitot's spot true DOID:11489 vitamin A deficiency with night blindness (disorder) disease_ontology DOID:11490 obsolete vitamin A deficiency with night blindness true DOID:11490 A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated. ICD10CM:H53.62 ICD9CM:368.62 SNOMEDCT_US_2023_03_01:53808001 UMLS_CUI:C0152202 disease_ontology DOID:11491 acquired night blindness DOID:11491 A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated. url:https://en.wikipedia.org/wiki/Nyctalopia url:https://en.wikipedia.org/wiki/Vitamin_A_deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/25804276 A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. ICD10CM:I31.4 ICD9CM:423.3 MESH:D002305 NCI:C50481 SNOMEDCT_US_2023_03_01:266295005 UMLS_CUI:C0007177 Rose's tamponade pericardial tamponade disease_ontology DOID:115 cardiac tamponade DOID:115 A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. url:http://en.wikipedia.org/wiki/Cardiac_tamponade url:http://www.nlm.nih.gov/medlineplus/ency/article/000194.htm DOID:11173 DOID:1149 DOID:1292 bone and joint disorder of back, pelvis and lower limbs of mother, antepartum bone and joint disorder of back, pelvis and lower limbs of mother, postpartum bone and joint disorder of back, pelvis and lower limbs of mother, with delivery bone and joint disorder of back, pelvis, and lower limbs of mother, antepartum bone and joint disorder of back, pelvis, and lower limbs of mother, postpartum bone and joint disorder of back, pelvis, and lower limbs of mother, with delivery disease_ontology DOID:1150 obsolete bone and joint disorder of back, pelvis and lower limbs of mother, complicating pregnancy, childbirth, or the puerperium true DOID:1150 DOID:11737 DOID:13947 ICD10CM:Q23.3 ICD9CM:396.3 ICD9CM:746.6 MESH:D008944 NCI:C50888 SNOMEDCT_US_2023_03_01:194736003 SNOMEDCT_US_2023_03_01:194977007 SNOMEDCT_US_2023_03_01:29928006 UMLS_CUI:C0026266 UMLS_CUI:C0158619 UMLS_CUI:C0264774 Congenital insufficiency of mitral valve Mitral valve incompetence congenital mitral insufficiency congenital mitral regurgitation mitral regurgitation disease_ontology DOID:11502 mitral valve insufficiency DOID:11502 MESH:D003929 NCI:C27068 SNOMEDCT_US_2023_03_01:50620007 UMLS_CUI:C0271686 disease_ontology DOID:11503 diabetic autonomic neuropathy DOID:11503 NCI:C27033 SNOMEDCT_US_2023_03_01:277879009 UMLS_CUI:C0259749 disease_ontology DOID:11504 autonomic neuropathy DOID:11504 A otitis media which involves inflammation of the middle ear with infected effusion containing pus. ICD10CM:H66.4 ICD9CM:382.4 MESH:D010035 SNOMEDCT_US_2023_03_01:267758003 UMLS_CUI:C0029888 Otitis media with effusion - purulent Purulent otitis media disease_ontology DOID:11506 suppurative otitis media DOID:11506 A otitis media which involves inflammation of the middle ear with infected effusion containing pus. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA129&lpg#v=onepage&q=&f=false An eating disorder that is characterized by effortless regurgitation of most meals following consumption. GARD:7594 ICD9CM:307.53 MESH:D000079562 NCI:C92567 SNOMEDCT_US_2023_03_01:37941009 UMLS_CUI:C0154575 Psychogenic rumination disease_ontology DOID:11507 rumination disorder DOID:11507 An eating disorder that is characterized by effortless regurgitation of most meals following consumption. url:http://en.wikipedia.org/wiki/Rumination_syndrome A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion. ICD10CM:I82.0 MESH:D006502 MIM:600880 SNOMEDCT_US_2023_03_01:195436007 UMLS_CUI:C0019154 hepatic vein thrombosis disease_ontology DOID:11512 Budd-Chiari syndrome DOID:11512 A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion. url:https://pubmed.ncbi.nlm.nih.gov/16971261/ ICD10CM:K14.5 ICD9CM:529.5 MESH:D014063 MIM:137400 SNOMEDCT_US_2023_03_01:52368004 UMLS_CUI:C0040412 Congenital fissure of tongue Congenital plicated tongue Fissure of tongue Fissure of tongue, congenital Furrowed tongue Plicated tongue Tongue, Fissured geographic tongue and fissured tongue lingua plicata scrotal tongue disease_ontology DOID:11514 OMIM mapping confirmed by DO. [SN]. fissured tongue DOID:11514 A heart disease that is caused by high blood pressure. ICD10CM:I11 ICD9CM:402 NCI:C157879 SNOMEDCT_US_2023_03_01:155297007 UMLS_CUI:C0152105 disease_ontology DOID:11516 hypertensive heart disease DOID:11516 A heart disease that is caused by high blood pressure. url:http://en.wikipedia.org/wiki/Heart_disease url:http://en.wikipedia.org/wiki/Hypertensive_heart_disease ICD10CM:H57.09 ICD9CM:379.49 UMLS_CUI:C0155376 disease_ontology DOID:11518 abnormal pupillary function DOID:11518 ICD9CM:403.1 SNOMEDCT_US_2023_03_01:193003 UMLS_CUI:C0155596 hypertensive renal disease, benign hypertensive renal disease, benign, without mention of renal failure disease_ontology DOID:11520 benign hypertensive renal disease DOID:11520 A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas. Clostridium perfringens food poisoning Food poisoning due to C. welchii Food poisoning due to Clostridium perfringens (disorder) Food poisoning due to Clostridium perfringens [C. welchii] food poisoning due to clostridium perfringens disease_ontology DOID:11523 obsolete Clostridium perfringens gastroenteritis true DOID:11523 A commensal Clostridium infectious disease that is caused by ingestion of food contaminated with Clostridium perfringens, which produces an enterotoxin that acts on the small intestine. The symptoms include watery diarrhea, abdominal cramps, a severe decrease in blood pressure and abdominal expansion from gas. url:http://www.cdc.gov/mmwr/preview/mmwrhtml/00025191.htm url:http://www.merck.com/mmpe/sec14/ch178/ch178g.html disease_ontology DOID:11524 obsolete Hyphema of iris and ciliary body true DOID:11524 vascular disorder of iris and ciliary body disease_ontology DOID:11525 obsolete Iris and ciliary body vascular disorder true DOID:11525 ICD10CM:J38.6 ICD9CM:478.74 MESH:D007829 NCI:C79608 SNOMEDCT_US_2023_03_01:195864007 UMLS_CUI:C0023075 Stenosis of larynx disease_ontology DOID:11527 laryngostenosis DOID:11527 disease_ontology DOID:11535 obsolete dysplasia of prostate true DOID:11535 ICD10CM:H18.83 ICD9CM:371.42 SNOMEDCT_US_2023_03_01:2055003 UMLS_CUI:C0155119 recurrent erosion of cornea recurrent erosion syndrome disease_ontology DOID:11541 recurrent corneal erosion DOID:11541 ICD10CM:H16.31 ICD9CM:370.55 NCI:C26969 SNOMEDCT_US_2023_03_01:64366002 UMLS_CUI:C0155091 disease_ontology DOID:11543 corneal abscess DOID:11543 ICD10CM:H18.00 ICD9CM:371.10 SNOMEDCT_US_2023_03_01:74460005 UMLS_CUI:C0162281 Deposits - cornea disease_ontology DOID:11547 corneal deposit DOID:11547 A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. GARD:5749 MESH:D000270 MIM:103100 NCI:C34357 SNOMEDCT_US_2023_03_01:123051004 UMLS_CUI:C0001519 Adie's pupil or syndrome Adie's pupil syndrome Adie's syndrome Holmes-Adie syndrome disease_ontology DOID:11549 OMIM mapping confirmed by DO. [SN]. Adie syndrome MESH:D000270 DOID:11549 A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. url:http://en.wikipedia.org/wiki/Adie_syndrome url:http://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm url:https://www.merriam-webster.com/medical/Adie's%20syndrome ICD10CM:H49.0 MESH:D015840 NCI:C27597 SNOMEDCT_US_2023_03_01:12900003 UMLS_CUI:C0028866 III nerve palsy IIIrd nerve Paralysis Third cranial nerve paralysis disease_ontology DOID:11550 oculomotor nerve paralysis DOID:11550 ICD10CM:H18.31 ICD9CM:371.31 SNOMEDCT_US_2023_03_01:45382000 UMLS_CUI:C0155115 Bowman membrane folds or rupture disease_ontology DOID:11552 Bowman's membrane folds or rupture DOID:11552 A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma. MESH:D057129 SNOMEDCT_US_2023_03_01:404632009 UMLS_CUI:C0544008 Chandler's syndrome Dystrophy of corneal endothelium Endothelial corneal dystrophy Posterior membrane corneal dystrophy disease_ontology DOID:11554 Chandler syndrome DOID:11554 A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma. url:https://rarediseases.info.nih.gov/diseases/6033/chandlers-syndrome A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. GARD:10018 ICD10CM:H18.51 MESH:D005642 MIM:136800 MIM:610158 MIM:613267 MIM:613268 MIM:613269 MIM:613270 MIM:613271 MIM:615523 NCI:C84721 ORDO:98974 SNOMEDCT_US_2023_03_01:16949007 UMLS_CUI:C0016781 FCED Fuchs' corneal dystrophy Fuchs' endothelial corneal dystrophy disease_ontology DOID:11555 Xref MGI. Fuchs' endothelial dystrophy DOID:11555 A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. url:http://en.wikipedia.org/wiki/Fuchs%27_dystrophy url:http://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy url:http://www.mayoclinic.org/diseases-conditions/fuchs-dystrophy/basics/definition/con-20023893?_ga=1.163328703.2017809229.1415219956 FCED A acute transudative otitis media with thin, watery and sterile effusion. ICD10CM:H65.0 ICD9CM:381.01 SNOMEDCT_US_2023_03_01:11957006 UMLS_CUI:C0155415 acute non-suppurative otitis media - serous disease_ontology DOID:11557 acute serous otitis media DOID:11557 A acute transudative otitis media with thin, watery and sterile effusion. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false A acute serous otitis media caused by an allergen. ICD9CM:381.04 SNOMEDCT_US_2023_03_01:194241005 UMLS_CUI:C0155418 disease_ontology DOID:11558 acute allergic serous otitis media DOID:11558 A acute serous otitis media caused by an allergen. url:https://www.ncbi.nlm.nih.gov/pubmed/15301306 An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. DOID:11303 DOID:1155 DOID:12090 DOID:12102 DOID:12945 DOID:13298 DOID:13299 DOID:13301 DOID:13302 DOID:13303 DOID:13304 DOID:14143 DOID:14220 DOID:14513 DOID:1834 DOID:1945 DOID:2486 ICD9CM:712.1 MIM:118600 MIM:118610 MIM:600668 NCI:C34955 ORDO:1416 SNOMEDCT_US_2023_03_01:201624004 SNOMEDCT_US_2023_03_01:201625003 UMLS_CUI:C0033802 UMLS_CUI:C0157852 calcium pyrophosphate deposition disease pseudogout disease_ontology DOID:1156 Xref MGI. chondrocalcinosis DOID:1156 An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. url:http://en.wikipedia.org/wiki/Chondrocalcinosis url:http://my.clevelandclinic.org/disorders/pseudogout/hic_pseudogout.aspx url:http://www.mayoclinic.com/health/pseudogout/DS00717 url:http://www.merckmanuals.com/professional/sec04/ch035/ch035c.html url:http://www.nlm.nih.gov/medlineplus/ency/article/000421.htm url:http://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/pseudogout.asp ICD10CM:H35.03 ICD9CM:362.11 MESH:D058437 NCI:C3514 SNOMEDCT_US_2023_03_01:422001004 UMLS_CUI:C0152132 disease_ontology DOID:11561 hypertensive retinopathy DOID:11561 A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images. ICD10CM:H35.06 ICD9CM:362.18 MESH:D031300 SNOMEDCT_US_2023_03_01:77628002 UMLS_CUI:C0152026 disease_ontology DOID:11563 retinal vasculitis DOID:11563 A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images. url:https://en.wikipedia.org/wiki/Retinal_vasculitis A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities. ICD9CM:306.2 MESH:D009449 SNOMEDCT_US_2023_03_01:46219009 UMLS_CUI:C0027821 Cardiovascular malfunction arising from mental factors Cardiovascular neurosis Da Costa's syndrome Krishaber's disease disease_ontology DOID:11569 neurocirculatory asthenia DOID:11569 A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities. url:http://en.wikipedia.org/wiki/Da_Costa%27s_syndrome url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1277260/ A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection. MESH:D008584 SNOMEDCT_US_2023_03_01:230151007 UMLS_CUI:C0025293 disease_ontology DOID:11572 Listeria meningitis DOID:11572 A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection. url:https://www.ncbi.nlm.nih.gov/pubmed/21877182 A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth. ICD10CM:A32 ICD9CM:027.0 MESH:D008088 NCI:C82994 SNOMEDCT_US_2023_03_01:186315001 UMLS_CUI:C0023860 Infection by Listeria monocytogenes Listeria infection disease_ontology DOID:11573 listeriosis DOID:11573 A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth. url:http://www.nlm.nih.gov/medlineplus/ency/article/001380.htm A bacterial meningitis that has_material_basis_in streptococcal bacteria. ICD10CM:G00.2 ICD9CM:320.2 SNOMEDCT_US_2023_03_01:4510004 UMLS_CUI:C0154639 disease_ontology DOID:11574 streptococcal meningitis DOID:11574 A bacterial meningitis that has_material_basis_in streptococcal bacteria. url:https://medlineplus.gov/ency/article/000607.htm Pneumococcal meningitis Pneumococcal meningitis (disorder) disease_ontology DOID:11575 obsolete pneumococcal meningitis true DOID:11575 A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord. GARD:10987 ICD10CM:G83.4 ICD9CM:344.6 MESH:D000077684 NCI:C35436 SNOMEDCT_US_2023_03_01:89356000 UMLS_CUI:C0392548 disease_ontology DOID:11577 Cauda equina syndrome DOID:11577 A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord. url:http://en.wikipedia.org/wiki/Cauda_equina_syndrome Escherichia coli meningitis (disorder) Meningitis due to E. coli disease_ontology DOID:11578 obsolete Escherichia coli meningitis true DOID:11578 ICD10CM:H16.25 ICD9CM:370.31 SNOMEDCT_US_2023_03_01:193773009 UMLS_CUI:C0155080 Phlyctenular keratoconjunctivitis Strumous ophthalmia disease_ontology DOID:11581 phlyctenulosis DOID:11581 Syphilitic aortitis Syphilitic aortitis (disorder) disease_ontology DOID:11582 obsolete syphilitic aortitis true DOID:11582 disease_ontology DOID:11584 obsolete acute schizophrenic episode in remission true DOID:11584 A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31. ICD10CM:G90.1 MESH:D004402 MIM:223900 NCI:C84706 SNOMEDCT_US_2023_03_01:204087006 UMLS_CUI:C0013364 HSAN III familial autonomic nervous dysfunction familial dysautonomia disease_ontology DOID:11589 OMIM mapping confirmed by DO. [SN]. Riley-Day syndrome DOID:11589 A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31. url:https://pubmed.ncbi.nlm.nih.gov/26769677/ HSAN III ICD9CM:536.8 UMLS_CUI:C0013396 disease_ontology DOID:1159 functional gastric disease DOID:1159 ICD10CM:C67.2 ICD9CM:188.2 NCI:C12333 SNOMEDCT_US_2023_03_01:93863000 UMLS_CUI:C0496828 Lateral Wall of bladder malignant neoplasm of lateral wall of urinary bladder disease_ontology DOID:11593 bladder lateral wall cancer DOID:11593 ICD10CM:H15.85 ICD9CM:379.15 SNOMEDCT_US_2023_03_01:5299007 UMLS_CUI:C0155363 disease_ontology DOID:11594 ring staphyloma DOID:11594 SNOMEDCT_US_2023_03_01:111534007 UMLS_CUI:C0155359 Scleral ectasia disease_ontology DOID:11595 scleral staphyloma DOID:11595 Cold injury syndrome of newborn (disorder) disease_ontology DOID:11597 obsolete cold injury syndrome of newborn true DOID:11597 An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways. GARD:6467 MESH:D013547 MIM:144100 SNOMEDCT_US_2023_03_01:56046002 UMLS_CUI:C0038994 Baillarger syndrome gustatory hyperhidrosis gustatory sweating disease_ontology DOID:11599 OMIM mapping confirmed by DO. [SN]. Frey syndrome DOID:11599 An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways. url:https://pubmed.ncbi.nlm.nih.gov/12269550/ DOID:5780 ICD10CM:C38.0 NCI:C4567 NCI:C4651 SNOMEDCT_US_2023_03_01:126734005 SNOMEDCT_US_2023_03_01:93957005 UMLS_CUI:C0346609 UMLS_CUI:C0349574 Pericardial tumor malignant neoplasm of pericardium malignant tumor of Pericardium disease_ontology DOID:116 pericardium cancer DOID:116 secondary and unspecified malignant neoplasm lymph nodes of multiple regions (disorder) secondary and unspecified malignant neoplasm of lymph nodes in multiple sites (disorder) secondary and unspecified malignant neoplasm of lymph nodes of multiple sites secondary malignant neoplasm of lymph nodes of multiple sites (disorder) disease_ontology DOID:11600 obsolete secondary malignant neoplasm of lymph nodes of multiple site true DOID:11600 A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age. ICD10CM:P83.4 ICD9CM:778.7 MESH:D006177 NCI:C117312 SNOMEDCT_US_2023_03_01:34831003 UMLS_CUI:C1449721 Neonatal gynaecomastia breast engorgement in newborn disease_ontology DOID:11603 infant gynecomastia DOID:11603 A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age. url:https://www.aafp.org/afp/2012/0401/p716.html url:https://www.ncbi.nlm.nih.gov/pubmed/28260521 Hydrops fetalis not due to isoimmunization Idiopathic hydrops fetalis (disorder) Idiopathic hydrops fetalis (disorder) [Ambiguous] Non-immune hydrops fetalis Non-immune hydrops fetalis (disorder) Perinatal skin prob. NOS disease_ontology DOID:11604 obsolete idiopathic hydrops fetalis true DOID:11604 disease_ontology DOID:11606 obsolete ileal disease true DOID:11606 A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses. Candida meningitis Candidal meningitis (disorder) disease_ontology DOID:11607 obsolete candidal meningitis true DOID:11607 A candidiasis that involves fungal infection of the meninges caused by Candida species, predominantly in low birth weight neonates with septicemia, resulting in formation of abscesses. url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ url:http://www.nature.com/jp/journal/v27/n2/pdf/7211628a.pdf A meningitis that has_material_basis_in a fungal infection. MESH:D016921 SNOMEDCT_US_2023_03_01:24321005 UMLS_CUI:C0085438 disease_ontology DOID:11608 fungal meningitis DOID:11608 A meningitis that has_material_basis_in a fungal infection. url:https://en.wikipedia.org/wiki/Fungal_meningitis An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight. EFO:0000660 ICD10CM:E28.2 ICD9CM:256.4 MESH:D011085 MIM:184700 NCI:C26862 SNOMEDCT_US_2023_03_01:69878008 UMLS_CUI:C0032460 Multicystic ovaries PCOS Polycystic Ovarian disease Polycystic ovaries Stein-Leventhal synd. Stein-Leventhal syndrome polycystic ovary disease_ontology DOID:11612 OMIM mapping confirmed by DO. [SN]. polycystic ovary syndrome DOID:11612 An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight. url:http://ghr.nlm.nih.gov/glossary=polycysticovarysyndrome url:https://en.wikipedia.org/wiki/Polycystic_ovary_syndrome url:https://pubmed.ncbi.nlm.nih.gov/28791858 url:https://www.ncbi.nlm.nih.gov/pubmed/20591140 PCOS MESH:D017588 SNOMEDCT_US_2023_03_01:237793004 UMLS_CUI:C0206081 hyperandrogenization syndrome disease_ontology DOID:11613 hyperandrogenism DOID:11613 DOID:11614 ICD10CM:C60 ICD10CM:C60.2 ICD9CM:187.3 ICD9CM:187.4 MESH:D010412 NCI:C7547 SNOMEDCT_US_2023_03_01:93716006 SNOMEDCT_US_2023_03_01:93954003 UMLS_CUI:C0153600 UMLS_CUI:C0153601 Ca penis Penile Ca malignant Penile tumor malignant neoplasm of body of penis penile neoplasm disease_ontology DOID:11615 penile cancer DOID:11615 A dental pulp disease characterized by death of the pulp tissue. ICD10CM:K04.1 ICD9CM:522.1 MESH:D003790 SNOMEDCT_US_2023_03_01:196332000 UMLS_CUI:C0011407 necrosis of the pulp necrotic pulp pulp necrosis disease_ontology DOID:11623 dental pulp necrosis DOID:11623 A dental pulp disease characterized by death of the pulp tissue. url:https://pubmed.ncbi.nlm.nih.gov/3867505/ url:https://www.aae.org/specialty/wp-content/uploads/sites/2/2017/07/endodonticdiagnosisfall2013.pdf url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481543/ MESH:D010412 NCI:C3317 SNOMEDCT_US_2023_03_01:126896003 UMLS_CUI:C0030849 Penile tumor neoplasm of penis disease_ontology DOID:11624 penile benign neoplasm DOID:11624 A prolapse of female genital organ that is characterized by a decrease in muscle mass and tissue in the pelvic floor, vagina, vulva and urinary tract due to aging, menopause and its subsequent reduction of estrogen, or a combination of the two. ICD10CM:N81.84 ICD9CM:618.83 UMLS_CUI:C1456255 disease_ontology DOID:11629 pelvic muscle wasting DOID:11629 A prolapse of female genital organ that is characterized by a decrease in muscle mass and tissue in the pelvic floor, vagina, vulva and urinary tract due to aging, menopause and its subsequent reduction of estrogen, or a combination of the two. url:https://pubmed.ncbi.nlm.nih.gov/27219835/ MESH:D018382 MIM:188570 MIM:274300 NCI:C85191 SNOMEDCT_US_2023_03_01:50375007 UMLS_CUI:C2940786 Generalized thyroid hormone resistance Refetoff syndrome Thyroid hormone responsiveness defect thyroid hormone resistance disease_ontology DOID:11633 OMIM mapping confirmed by DO. [LS]. thyroid hormone resistance syndrome DOID:11633 ICD10CM:E03.9 MESH:D009230 MIM:255900 NCI:C34834 SNOMEDCT_US_2023_03_01:190274003 UMLS_CUI:C0027145 disease_ontology DOID:11634 OMIM mapping confirmed by DO. [SN]. myxedema DOID:11634 ICD10CM:H52.53 ICD9CM:367.53 SNOMEDCT_US_2023_03_01:30069002 UMLS_CUI:C0152196 Spasm of accommodation disease_ontology DOID:11637 accommodative spasm DOID:11637 ICD10CM:H52.4 ICD9CM:367.4 MESH:D011305 SNOMEDCT_US_2023_03_01:155135005 UMLS_CUI:C0033075 disease_ontology DOID:11638 presbyopia DOID:11638 Idiopathic tachypnea of newborn Transitory tachypnea of newborn (disorder) disease_ontology DOID:11649 obsolete transitory tachypnea of newborn true DOID:11649 A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems. DOID:11651 ICD10CM:P27.1 MESH:D001997 NCI:C90599 Bronchopulmonary dysplasia of newborn Chronic lung disease of prematurity Neonatal chronic lung disease Perinatal bronchopulmonary dysplasia Respiratory insufficiency neonatal chronic respiratory disease disease_ontology DOID:11650 bronchopulmonary dysplasia DOID:11650 A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems. url:https://www.nhlbi.nih.gov/health/bronchopulmonary-dysplasia ICD10CM:H11.11 ICD9CM:372.56 SNOMEDCT_US_2023_03_01:62660000 UMLS_CUI:C0162280 disease_ontology DOID:11653 conjunctival deposit DOID:11653 Naevus fuscocerulophthalmomaxillaris Naevus fusoceruleus ophthalmomaxillaris Oculocutaneous melanocytic nevus Oculodermal malanocytosis nevus of Ota (disorder) primary acquired melanosis primary acquired melanosis of conjunctiva (disorder) disease_ontology DOID:11654 obsolete nevus of ota true DOID:11654 A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. DOID:11655 GARD:5913 ICD10CM:L12.1 ICD9CM:694.6 ICD9CM:694.61 MESH:D010390 MIM:164185 NCI:C34907 SNOMEDCT_US_2023_03_01:34250006 SNOMEDCT_US_2023_03_01:76092003 UMLS_CUI:C0030804 UMLS_CUI:C0157721 Cicatricial pemphigoid with ocular involvement Ocular pemphigoid benign mucous membrane pemphigoid benign mucous membrane pemphigoid with ocular involvement ocular pemphigus disease_ontology DOID:11656 cicatricial pemphigoid DOID:11656 A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. url:http://en.wikipedia.org/wiki/Cicatricial_pemphigoid url:http://www.merckmanuals.com/professional/eye_disorders/conjunctival_and_scleral_disorders/cicatricial_pemphigoid.html An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms. DOID:1165 DOID:1177 DOID:1178 DOID:1179 DOID:12951 DOID:13354 DOID:13355 DOID:13771 GARD:7304 ICD10CM:M12.3 ICD9CM:719.3 ICD9CM:719.31 MESH:C538103 SNOMEDCT_US_2023_03_01:202455001 SNOMEDCT_US_2023_03_01:202457009 UMLS_CUI:C0085574 UMLS_CUI:C0158178 Hench's syndrome Hench-Rosenberg syndrome disease_ontology DOID:1166 palindromic rheumatism DOID:1166 An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms. url:http://arthritis.about.com/od/diseasesandconditions/a/palindromic.htm url:http://en.wikipedia.org/wiki/Palindromic_rheumatism url:http://www.palindromicrheumatism.org/ url:https://rarediseases.info.nih.gov/diseases/7304/palindromic-rheumatism url:https://www.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/expert-answers/palindromic-rheumatism/faq-20058516 A color blindness that is characterized by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. ICD10CM:H53.55 ICD9CM:368.53 MESH:D003117 MIM:190900 SNOMEDCT_US_2023_03_01:51886007 UMLS_CUI:C0155017 Tritan defect Tritanopia disease_ontology DOID:11661 OMIM mapping confirmed by DO. [SN]. blue color blindness DOID:11661 A color blindness that is characterized by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. url:http://www.omim.org/entry/190900 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629 url:https://www.ncbi.nlm.nih.gov/pubmed/2788922 disease_ontology DOID:11662 obsolete color vision defect true DOID:11662 GARD:7179 ICD10CM:I12 ICD9CM:587 MESH:D009400 SNOMEDCT_US_2023_03_01:194773000 UMLS_CUI:C0027719 renal sclerosis disease_ontology DOID:11664 nephrosclerosis DOID:11664 ICD10CM:Q91.7 ICD9CM:758.1 MESH:D000073839 NCI:C101223 SNOMEDCT_US_2023_03_01:21111006 UMLS_CUI:C0152095 D1 Trisomy trisomy 13 disease_ontology Patau's syndrome DOID:11665 OMIM mapping confirmed by DO. [LS]. Patau syndrome DOID:11665 A pigmentation disease that is characterized by loss of pigmentation of the eyelid and has_symptom white or light macules or patches on the eyelid, and has_material_basis_in autoimmune conditions like vitiligo, chronic inflammation, malignancy, or exposure to destructive substances. ICD10CM:H02.73 ICD9CM:374.53 SNOMEDCT_US_2023_03_01:193958004 UMLS_CUI:C0155212 disease_ontology DOID:11668 hypopigmentation of eyelid DOID:11668 A pigmentation disease that is characterized by loss of pigmentation of the eyelid and has_symptom white or light macules or patches on the eyelid, and has_material_basis_in autoimmune conditions like vitiligo, chronic inflammation, malignancy, or exposure to destructive substances. url:https://en.wikipedia.org/wiki/Vitiligo url:https://www.aafp.org/afp/1998/0601/p2695.html ICD10CM:H02.86 ICD9CM:374.54 SNOMEDCT_US_2023_03_01:79830009 UMLS_CUI:C0155213 disease_ontology DOID:11669 hypertrichosis of eyelid DOID:11669 ICD10CM:H02.72 ICD9CM:374.55 SNOMEDCT_US_2023_03_01:193959007 UMLS_CUI:C0155214 disease_ontology DOID:11671 hypotrichosis of eyelid DOID:11671 A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. GARD:7252 ICD10CM:B73 ICD9CM:125.3 MESH:D009855 NCI:C34861 SNOMEDCT_US_2023_03_01:38539003 UMLS_CUI:C0029001 Infection by Onchocerca volvulus Onchocerca volvulus infection volvulosis disease_ontology DOID:11678 onchocerciasis DOID:11678 A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm DOID:3147 ICD10CM:E78.5 MESH:D006949 MESH:D006951 NCI:C34707 NCI:C34709 SNOMEDCT_US_2023_03_01:154739000 SNOMEDCT_US_2023_03_01:3744001 UMLS_CUI:C0020473 UMLS_CUI:C0020476 familial hyperlipoproteinemia hyperlipemia disease_ontology hyperlipidaemia DOID:1168 familial hyperlipidemia DOID:1168 A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness. Ocular Onchocerciasis Ocular onchocerciasis (disorder) river blindness disease_ontology DOID:11680 obsolete ocular onchocerciasis true DOID:11680 A onchocerciasis that involves parasitic infection of the eye by the larvae of Onchocerca volvulus. The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. In severe infection, sclerosing keratitis occurs, making the affected area become opaque leading to blindness. url:http://en.wikipedia.org/wiki/Onchocerciasis Glaucoma associated with systemic syndromes (disorder) disease_ontology DOID:11683 obsolete glaucoma associated with systemic syndromes true DOID:11683 NCI:C27548 SNOMEDCT_US_2023_03_01:201096007 UMLS_CUI:C1321683 disease_ontology DOID:11684 melanoacanthoma DOID:11684 ICD10CM:L82.0 ICD9CM:702.11 SNOMEDCT_US_2023_03_01:442348004 UMLS_CUI:C0376117 disease_ontology DOID:11685 inflamed seborrheic keratosis DOID:11685 ICD10CM:K04.4 ICD9CM:522.4 SNOMEDCT_US_2023_03_01:88071000 UMLS_CUI:C0155934 acute apical periodontitis of pulpal origin disease_ontology DOID:11693 acute apical periodontitis DOID:11693 A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein. ICD10CM:I81 ICD9CM:452 NCI:C78565 SNOMEDCT_US_2023_03_01:155455003 UMLS_CUI:C0155773 disease_ontology DOID:11695 portal vein thrombosis DOID:11695 A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein. url:http://en.wikipedia.org/wiki/Portal_vein_thrombosis chronic hypomanic personality disorder disease_ontology DOID:11696 obsolete chronic hypomanic disorder true DOID:11696 A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe. Tuberculosis of intrathoracic lymph nodes (disorder) Tuberculosis of intrathoracic lymph nodes NOS (disorder) Tuberculosis of intrathoracic lymph nodes, unspecified examination disease_ontology DOID:11699 obsolete intrathoracic lymph node tuberculosis true DOID:11699 A lymph node tuberculosis that is characterized by a peri-hilar or paratracheal lymph adenopathy after the primary infection. The diseased lymph nodes and associated inflammatory edema compress the airways resulting in partial or total airway obstruction. When a caseating lymph node erupts into an airway, aspiration of caseous material results in dense alveolar consolidation of the affected segment/lobe. url:http://ep.bmjjournals.com/cgi/reprint/91/1/ep1 A cardiovascular cancer located_in the heart. DOID:9918 GARD:2619 ICD10CM:C38.0 ICD9CM:164.1 MESH:D006338 NCI:C3081 NCI:C3548 SNOMEDCT_US_2023_03_01:126730001 SNOMEDCT_US_2023_03_01:93825008 UMLS_CUI:C0018809 UMLS_CUI:C0153500 Cardiac tumor Tumour of heart malignant Cardiac tumor malignant neoplasm of heart disease_ontology DOID:117 heart cancer DOID:117 A cardiovascular cancer located_in the heart. url:http://en.wikipedia.org/wiki/Heart_cancer A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. MESH:D017098 SNOMEDCT_US_2023_03_01:29260007 UMLS_CUI:C0162538 Immunoglobulin A deficiency Selective immunoglobulin A deficiency selective IgA immunodeficiency disease_ontology DOID:11701 selective IgA deficiency disease DOID:11701 A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. url:http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. MESH:D004406 SNOMEDCT_US_2023_03_01:127389001 UMLS_CUI:C0013374 disease_ontology DOID:11702 dysgammaglobulinemia MESH:D004406 DOID:11702 A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. url:http://en.wikipedia.org/wiki/Dysgammaglobulinemia disease_ontology DOID:11705 obsolete impaired renal function disease true DOID:11705 MESH:D006954 MIM:144650 NCI:C35645 SNOMEDCT_US_2023_03_01:34349009 UMLS_CUI:C0020481 Fredrickson type V lipaemia familial hyperlipoproteinemia type V familial type 5 hyperlipoproteinemia disease_ontology DOID:1171 OMIM mapping confirmed by DO. [SN]. hyperlipoproteinemia type V DOID:1171 Diabetes in Pregnancy Diabetes mellitus, antepartum pregnancy diabetes disease_ontology DOID:11711 obsolete Pregnancy in Diabetics true DOID:11711 A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy. MESH:D003923 NCI:C34537 SNOMEDCT_US_2023_03_01:408543001 UMLS_CUI:C0011859 lipoatrophic diabetes disease_ontology DOID:11712 lipoatrophic diabetes mellitus DOID:11712 A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy. url:http://en.wikipedia.org/wiki/Lipoatrophic_diabetes A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes. DOID:10182 ICD9CM:250.7 MESH:D003925 NCI:C35610 SNOMEDCT_US_2023_03_01:127014009 UMLS_CUI:C0011871 UMLS_CUI:C0011875 Diabetic vascular disorder diabetic peripheral angiopathy disease_ontology DOID:11713 diabetic angiopathy DOID:11713 A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes. url:https://en.wikipedia.org/wiki/Diabetic_angiopathy A diabetes mellitus that manifests during pregnancy. EFO:0004593 ICD10CM:O24.4 MESH:D016640 NCI:C34942 SNOMEDCT_US_2023_03_01:11687002 UMLS_CUI:C0085207 GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus disease_ontology DOID:11714 gestational diabetes DOID:11714 A diabetes mellitus that manifests during pregnancy. url:https://pubmed.ncbi.nlm.nih.gov/26824237/ GDM A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes. ICD10CM:R73.03 MESH:D011236 NCI:C122685 SNOMEDCT_US_2023_03_01:15777000 UMLS_CUI:C0362046 Prediabetes impaired glucose tolerance prediabetic state disease_ontology DOID:11716 prediabetes syndrome DOID:11716 A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes. url:https://pubmed.ncbi.nlm.nih.gov/26280340/ A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life. ICD10CM:P70.2 ICD9CM:775.1 NCI:C99248 SNOMEDCT_US_2023_03_01:49817004 UMLS_CUI:C0158981 diabetes mellitus syndrome in newborn infant neonatal diabetes disease_ontology DOID:11717 neonatal diabetes mellitus DOID:11717 A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928785/ A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. ICD9CM:305.8 UMLS_CUI:C0154540 disease_ontology DOID:11718 antidepressant type abuse DOID:11718 A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. url:http://en.wikipedia.org/wiki/Antidepressant ICD10CM:G71.09 MESH:D039141 MIM:164300 NCI:C84942 SNOMEDCT_US_2023_03_01:77097004 UMLS_CUI:C0270952 Muscular dystrophy, oculopharyngeal disease_ontology DOID:11719 OMIM mapping confirmed by DO. [SN]. oculopharyngeal muscular dystrophy DOID:11719 DOID:0050527 ICD10CM:E78.1 ICD9CM:272.1 MESH:D006953 MIM:144600 MIM:145750 NCI:C34711 SNOMEDCT_US_2023_03_01:154741004 UMLS_CUI:C0020480 Endogenous hyperlipidaemia Fredrickson type IV Lipidemia Fredrickson type IV hyperlipoproteinemia Fredrickson type IV lipidaemia VLDL hyperlipoproteinemia familial hypertriglyceridemia disease_ontology DOID:1172 OMIM mapping confirmed by DO. [SN]. hyperlipoproteinemia type IV DOID:1172 A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands. ICD10CM:G71.09 MESH:D049310 MIM:PS160500 NCI:C84675 ORDO:399096 ORDO:5448 ORDO:59135 SNOMEDCT_US_2023_03_01:58795000 UMLS_CUI:C0751336 distal muscular dystrophy disease_ontology DOID:11720 Xref MGI. OMIM mapping confirmed by DO. [SN]. distal myopathy DOID:11720 A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands. url:https://rarediseases.org/rare-diseases/distal-myopathy/ A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13. ICD10CM:E74.09 MESH:D006014 MIM:232800 NCI:C118437 SNOMEDCT_US_2023_03_01:89597008 UMLS_CUI:C0017926 Glycogen storage disease 7 Glycogen storage disease, type VII Muscle phosphofructokinase deficiency glycogen storage disease type VII phosphofructokinase myopathy disease_ontology DOID:11721 OMIM mapping confirmed by DO. [SN]. glycogen storage disease VII DOID:11721 A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13. url:https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii/ A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. GARD:8310 ICD10CM:G71.11 ICD9CM:359.21 MESH:D009223 MIM:160900 NCI:C84914 SNOMEDCT_US_2023_03_01:1177122009 UMLS_CUI:C0027126 Dystrophia myotonica Steinert disease congenital myotonic dystrophy myotonic dystrophy of Steinert disease_ontology DOID:11722 OMIM mapping confirmed by DO. [SN]. myotonic dystrophy type 1 DOID:11722 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. url:http://en.wikipedia.org/wiki/Myotonic_dystrophy url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy url:http://omim.org/entry/160900 url:http://www.genome.gov/25521207 url:http://www.ncbi.nlm.nih.gov/books/NBK1165/ A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. GARD:6291 MESH:D020388 MIM:310200 NCI:C75482 SNOMEDCT_US_2023_03_01:155095006 UMLS_CUI:C0013264 Muscular dystrophy, Duchenne disease_ontology DOID:11723 OMIM mapping confirmed by DO. [SN]. Duchenne muscular dystrophy DOID:11723 A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. url:http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy url:http://omim.org/entry/300377 url:http://www.genome.gov/19518854 A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. GARD:6907 ICD10CM:G71.03 MESH:D049288 NCI:C84828 ORDO:263 SNOMEDCT_US_2023_03_01:56096001 UMLS_CUI:C0686353 Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy disease_ontology DOID:11724 Xref MGI. OMIM mapping confirmed by DO. [SN]. limb-girdle muscular dystrophy DOID:11724 A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. url:http://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy url:http://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy url:http://www.ncbi.nlm.nih.gov/books/NBK1408/ A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. GARD:10109 ICD10CM:Q87.19 MESH:D003635 MIM:PS122470 NCI:C75016 ORDO:199 SNOMEDCT_US_2023_03_01:40354009 UMLS_CUI:C0270972 Brachmann de Lange syndrome De Lange syndrome disease_ontology DOID:11725 Xref MGI. OMIM mapping confirmed by DO. [SN]. Cornelia de Lange syndrome DOID:11725 A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. url:http://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome url:http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome url:http://www.omim.org/entry/122470 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/30/viewAbstract A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. GARD:6329 MESH:D020389 MIM:PS310300 NCI:C84685 ORDO:261 SNOMEDCT_US_2023_03_01:129620000 UMLS_CUI:C0410189 EDMD disease_ontology DOID:11726 Xref MGI. OMIM mapping confirmed by DO. [SN]. Emery-Dreifuss muscular dystrophy DOID:11726 A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. url:http://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy url:http://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy EDMD GARD:9941 ICD10CM:G71.02 MESH:D020391 NCI:C84704 SNOMEDCT_US_2023_03_01:56096001 UMLS_CUI:C0238288 Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine disease_ontology DOID:11727 OMIM mapping confirmed by DO. [SN]. facioscapulohumeral muscular dystrophy DOID:11727 A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. DOID:12233 GARD:12073 ICD10CM:A69.2 ICD9CM:088.81 MESH:D008193 MESH:D020852 NCI:C45161 SNOMEDCT_US_2023_03_01:154376000 SNOMEDCT_US_2023_03_01:715507005 UMLS_CUI:C0024198 UMLS_CUI:C0752235 Bannwarth syndrome Bannworth's syndrome Lyme borreliosis Neurological Lyme disease lyme neuroborreliosis neuroborreliosis disease_ontology DOID:11729 Lyme disease DOID:11729 A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. url:http://www.cdc.gov/lyme/transmission/index.html Borreliosis (disorder) Borreliosis, NOS borreliosis disease_ontology DOID:11730 obsolete Borrelia infectious disease true DOID:11730 Syphilitic myocarditis (disorder) disease_ontology DOID:11732 obsolete syphilitic myocarditis true DOID:11732 Aneurysm of aorta, specified as syphilitic Syphilitic aneurysm of aorta (disorder) disease_ontology DOID:11733 obsolete syphilitic aortic aneurysm true DOID:11733 Syphilitic pericarditis (disorder) disease_ontology DOID:11734 obsolete syphilitic pericarditis true DOID:11734 Manic disorder, single episode, in full remission Single manic episode in full remission (disorder) disease_ontology DOID:11735 obsolete single manic episode in full remission true DOID:11735 ICD9CM:521.05 SNOMEDCT_US_2023_03_01:196305005 UMLS_CUI:C0341004 disease_ontology DOID:11736 odontoclasia DOID:11736 A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress. Chlamydial pneumonia (disorder) Pneumonia due to Chlamydia disease_ontology DOID:11741 obsolete Chlamydophila pneumoniae pneumonia true DOID:11741 A Chlamydophila infectious disease that involves Chlamydophila pneumoniae infection, characterized by interstitial infiltrates and respiratory distress. url:http://en.wikipedia.org/wiki/Pneumonia url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/chlamydiapneumonia_t.htm url:http://www.merck.com/mmpe/sec19/ch279/ch279l.html A uterine adnexa cancer that is located_in the parametrium. ICD10CM:C57.3 ICD9CM:183.4 SNOMEDCT_US_2023_03_01:93942003 UMLS_CUI:C0153581 disease_ontology DOID:11746 parametrium malignant neoplasm DOID:11746 A uterine adnexa cancer that is located_in the parametrium. url:https://www.sciencedirect.com/topics/medicine-and-dentistry/parametrium A uterine cancer that is located_in the adnexa. DOID:9596 ICD10CM:C57.4 ICD9CM:183 ICD9CM:183.9 SNOMEDCT_US_2023_03_01:188201008 SNOMEDCT_US_2023_03_01:94126000 UMLS_CUI:C0153577 UMLS_CUI:C0153584 disease_ontology DOID:11747 uterine adnexa cancer DOID:11747 A uterine cancer that is located_in the adnexa. url:https://www.ncbi.nlm.nih.gov/pubmed/6043913 A uterine adnexa cancer that is located_in the round ligament. ICD10CM:C57.2 ICD9CM:183.5 SNOMEDCT_US_2023_03_01:188204000 UMLS_CUI:C0346867 malignant neoplasm of round ligament malignant neoplasm of round ligament of uterus disease_ontology DOID:11748 round ligament malignant neoplasm DOID:11748 A uterine adnexa cancer that is located_in the round ligament. url:https://pmc.ncbi.nlm.nih.gov/articles/PMC4365377/ A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose. ICD10CM:A37.1 ICD9CM:033.1 SNOMEDCT_US_2023_03_01:77116006 UMLS_CUI:C0275742 disease_ontology DOID:11750 Bordetella parapertussis whooping cough DOID:11750 A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose. url:http://en.wikipedia.org/wiki/Pertussis ICD9CM:360.01 SNOMEDCT_US_2023_03_01:193268004 UMLS_CUI:C0154773 disease_ontology DOID:11752 acute endophthalmitis DOID:11752 disease_ontology DOID:11753 obsolete biliary calculus with acute cholecystitis true DOID:11753 An eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body. ICD10CM:H44.32 ICD9CM:360.23 SNOMEDCT_US_2023_03_01:25277000 UMLS_CUI:C0271001 Siderosis of globe disease_ontology DOID:11754 siderosis of eye DOID:11754 An eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body. url:https://www.ncbi.nlm.nih.gov/pubmed/30787536 url:https://www.ncbi.nlm.nih.gov/pubmed/3390063 A common bile duct disease characterized by the presence of at least one gallstone in the common bile duct. MESH:D042883 SNOMEDCT_US_2023_03_01:197397004 UMLS_CUI:C0701818 disease_ontology DOID:11755 choledocholithiasis DOID:11755 A common bile duct disease characterized by the presence of at least one gallstone in the common bile duct. url:https://medlineplus.gov/ency/article/000274.htm url:https://www.ncbi.nlm.nih.gov/books/NBK441961/ DOID:13666 bile duct calculus with acute cholecystitis and obstruction bile duct calculus with acute cholecystitis and obstruction (disorder) bile duct calculus with acute cholecystitis and obstruction NOS (disorder) calculus of bile duct with acute cholecystitis with obstruction (disorder) calculus of bile duct with acute cholecystitis, with obstruction disease_ontology DOID:11756 obsolete calculus of bile duct with acute cholecystitis true DOID:11756 A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells. ICD9CM:280.8 SNOMEDCT_US_2023_03_01:191129007 UMLS_CUI:C0029810 disease_ontology DOID:11758 iron deficiency anemia DOID:11758 A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells. url:https://medlineplus.gov/ency/article/000584.htm url:https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-deficient-erythropoiesis/iron-deficiency-anemia An anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. ICD10CM:D50 MESH:D000747 NCI:C34380 SNOMEDCT_US_2023_03_01:44452003 UMLS_CUI:C0002884 ANEMIA HYPOCHROMIC disease_ontology DOID:11759 hypochromic anemia DOID:11759 An anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. url:https://en.wikipedia.org/wiki/Hypochromic_anemia A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. DOID:1175 DOID:12322 MESH:D001982 SNOMEDCT_US_2023_03_01:41427001 UMLS_CUI:C0006261 disease_ontology DOID:1176 bronchial disease DOID:1176 A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. url:https://www.ncbi.nlm.nih.gov/pubmed/11685087 An osteochondrosis that results_in death and collapse located_in navicular bone of foot. GARD:6842 ICD9CM:732.5 SNOMEDCT_US_2023_03_01:32491009 UMLS_CUI:C0158444 Juvenile osteochondrosis of foot Kohler disease disease_ontology DOID:11760 Kohler's disease DOID:11760 An osteochondrosis that results_in death and collapse located_in navicular bone of foot. url:http://en.wikipedia.org/wiki/K%C3%B6hler_disease ICD9CM:360.41 SNOMEDCT_US_2023_03_01:193291000 UMLS_CUI:C0154788 disease_ontology DOID:11766 blind hypotensive eye DOID:11766 testicular hyperfunction testicular hyperfunction (disorder) disease_ontology DOID:11770 obsolete hypersecretion of testicular hormones true DOID:11770 ICD10CM:H55.03 ICD9CM:379.53 MESH:D009759 SNOMEDCT_US_2023_03_01:39771000 UMLS_CUI:C0271384 Ocular nystagmus Searching eye movements visual deprivation nystagmus disease_ontology DOID:11771 spontaneous ocular nystagmus DOID:11771 ICD10CM:H44.53 ICD9CM:360.44 SNOMEDCT_US_2023_03_01:193288000 UMLS_CUI:C0152458 Leucocoria disease_ontology DOID:11772 leukocoria DOID:11772 Hereditary edema of legs Hereditary edema of legs NOS (disorder) Hereditary edema of legs [dup] (disorder) Hereditary trophedema (disorder) Hereditary trophoedeme disease_ontology DOID:11775 obsolete hereditary trophedema true DOID:11775 A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance. ICD9CM:360.42 SNOMEDCT_US_2023_03_01:193286001 UMLS_CUI:C0154789 blind hypertensive eye disease_ontology DOID:11776 absolute glaucoma DOID:11776 A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669490/ ICD10CM:H52.22 ICD9CM:367.21 SNOMEDCT_US_2023_03_01:68905002 UMLS_CUI:C0152193 disease_ontology DOID:11781 regular astigmatism DOID:11781 A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision. ICD10CM:H52.2 ICD9CM:367.2 MESH:D001251 MIM:603047 SNOMEDCT_US_2023_03_01:155134009 UMLS_CUI:C0004106 disease_ontology DOID:11782 OMIM mapping confirmed by DO. [SN]. astigmatism DOID:11782 A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision. url:http://en.wikipedia.org/wiki/Astigmatism_%28eye%29 ICD9CM:385.24 UMLS_CUI:C0155488 partial loss or necrosis of ear ossicles disease_ontology DOID:11783 necrosis of ear ossicle DOID:11783 ICD9CM:289.52 UMLS_CUI:C1260402 disease_ontology DOID:11786 splenic sequestration DOID:11786 ICD10CM:D73.2 ICD9CM:289.51 SNOMEDCT_US_2023_03_01:191382009 UMLS_CUI:C0398661 disease_ontology DOID:11787 chronic congestive splenomegaly DOID:11787 ICD9CM:371.05 SNOMEDCT_US_2023_03_01:193801004 UMLS_CUI:C0155102 disease_ontology DOID:11793 phthisical cornea DOID:11793 A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease. ICD10CM:J37.0 ICD9CM:476.0 NCI:C26975 SNOMEDCT_US_2023_03_01:155535001 UMLS_CUI:C0155836 disease_ontology DOID:11797 chronic laryngitis DOID:11797 A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease. url:http://en.wikipedia.org/wiki/Laryngitis url:http://www.merck.com/mmhe/sec19/ch222/ch222d.html#sec19-ch222-ch222d-263 A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. MESH:D010490 NCI:C3319 SNOMEDCT_US_2023_03_01:70370001 UMLS_CUI:C0031039 disease_ontology DOID:118 pericardial effusion DOID:118 A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. url:http://en.wikipedia.org/wiki/Pericardial_effusion A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation. ICD10CM:E46 ICD9CM:263.9 MESH:D011502 NCI:C34952 SNOMEDCT_US_2023_03_01:72608005 UMLS_CUI:C0033677 disease_ontology DOID:11801 protein-energy malnutrition DOID:11801 A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation. url:https://en.wikipedia.org/wiki/Protein%E2%80%93energy_malnutrition protein deficiency disease_ontology DOID:11802 obsolete protein deficiency true DOID:11802 Macrodactylia Macrodactylia (fingers) Macrodactylia of fingers (disorder) disease_ontology DOID:11806 obsolete macrodactylia of fingers true DOID:11806 ICD10CM:C67.5 ICD9CM:188.5 SNOMEDCT_US_2023_03_01:188244007 UMLS_CUI:C0153613 malignant neoplasm of urinary bladder neck malignant tumor of bladder neck disease_ontology DOID:11809 bladder neck cancer DOID:11809 metastatic tumor to the urinary bladder secondary malignant neoplasm of bladder (disorder) disease_ontology DOID:11810 obsolete metastatic neoplasm to the bladder true DOID:11810 ICD10CM:C67.4 ICD9CM:188.4 SNOMEDCT_US_2023_03_01:93972009 UMLS_CUI:C0153612 malignant neoplasm of posterior wall of urinary bladder disease_ontology DOID:11811 urinary bladder posterior wall cancer DOID:11811 A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder. NCI:C4669 SNOMEDCT_US_2023_03_01:278046008 UMLS_CUI:C0349666 sarcoma of bladder sarcoma of the urinary bladder disease_ontology DOID:11812 bladder sarcoma DOID:11812 A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder. url:https://my.clevelandclinic.org/health/diseases/16512-genitourinary-sarcomas ICD10CM:C67.0 ICD9CM:188.0 SNOMEDCT_US_2023_03_01:94109006 UMLS_CUI:C0496826 malignant neoplasm of trigone of urinary bladder malignant tumor of trigone of bladder malignant tumor of trigone of urinary bladder disease_ontology DOID:11813 bladder trigone cancer DOID:11813 ICD10CM:C67.3 ICD9CM:188.3 SNOMEDCT_US_2023_03_01:93675008 UMLS_CUI:C0153611 malignant neoplasm of anterior wall of urinary bladder disease_ontology DOID:11814 urinary bladder anterior wall cancer DOID:11814 disease_ontology DOID:11815 obsolete recurrent malignant bladder neoplasm true DOID:11815 ICD10CM:H43.81 ICD9CM:379.21 SNOMEDCT_US_2023_03_01:60189009 UMLS_CUI:C0155366 Vitreous degeneration disease_ontology DOID:11816 vitreous syneresis DOID:11816 GARD:7836 ICD10CM:C67.7 ICD9CM:188.7 SNOMEDCT_US_2023_03_01:94120006 UMLS_CUI:C0153615 malignant tumor of urachus disease_ontology DOID:11817 urachus cancer DOID:11817 ICD10CM:C67.6 ICD9CM:188.6 NCI:C12337 SNOMEDCT_US_2023_03_01:188245008 UMLS_CUI:C0153614 Orifice of the Ureter malignant neoplasm of ureteric orifice of urinary bladder malignant tumor of ureteric orifice disease_ontology DOID:11818 ureteric orifice cancer DOID:11818 A urinary system cancer that is located_in the ureter. ICD10CM:C66 ICD9CM:189.2 MESH:D014516 MIM:191600 NCI:C7543 SNOMEDCT_US_2023_03_01:94121005 UMLS_CUI:C0153619 malignant tumour of ureter malignant ureteral tumor disease_ontology DOID:11819 OMIM mapping confirmed by DO. [SN]. ureter cancer DOID:11819 A urinary system cancer that is located_in the ureter. url:http://en.wikipedia.org/wiki/Ureter_cancer ICD10CM:C67.1 ICD9CM:188.1 NCI:C12332 SNOMEDCT_US_2023_03_01:93678005 UMLS_CUI:C0496827 Superior Surface of bladder malignant neoplasm of apex of urinary bladder malignant neoplasm of dome of urinary bladder malignant tumor of vault of bladder disease_ontology DOID:11820 bladder dome cancer DOID:11820 NCI:C6164 UMLS_CUI:C1332561 Lymphoma of the urinary bladder disease_ontology DOID:11821 bladder lymphoma DOID:11821 An acute kidney failure that is characterized by severe renal vasoconstriction. GARD:6610 ICD10CM:K76.7 ICD9CM:572.4 MESH:D006530 NCI:C113400 SNOMEDCT_US_2023_03_01:51292008 UMLS_CUI:C0019212 disease_ontology DOID:11823 hepatorenal syndrome DOID:11823 An acute kidney failure that is characterized by severe renal vasoconstriction. url:https://www.ncbi.nlm.nih.gov/books/NBK470565/ A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis. GARD:7103 ICD10CM:E78.81 NCI:C27896 ORDO:139436 SNOMEDCT_US_2023_03_01:84241008 UMLS_CUI:C0311284 Lipoid dermatoarthritis disease_ontology DOID:11824 multicentric reticulohistiocytosis DOID:11824 A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis. url:http://en.wikipedia.org/wiki/Multicentric_reticulohistiocytosis url:https://www.ncbi.nlm.nih.gov/pubmed/23130232 disease_ontology DOID:11828 obsolete visual cortex disorder due to vascular disorder true DOID:11828 EFO:0004207 ICD10CM:H44.2 ICD9CM:360.21 MESH:D047728 NCI:C157149 SNOMEDCT_US_2023_03_01:32022003 UMLS_CUI:C0154778 degenerative progressive high myopia pathological myopia progressive high (degenerative) myopia progressive high myopia disease_ontology DOID:11829 degenerative myopia DOID:11829 Nephrotic syndrome with lesion of membranoproliferative glomerulonephritis disease_ontology DOID:1183 obsolete nephrotic syndrome with lesion of membranoproliferative glomerulonephritis true DOID:1183 A refractive error characterized by the inability to see farther objects clearly. ICD10CM:H52.1 ICD9CM:367.1 MESH:D009216 MIM:160700 MIM:255500 MIM:300613 MIM:310460 MIM:603221 MIM:608367 MIM:608474 MIM:608908 MIM:609256 MIM:609257 MIM:609258 MIM:609259 MIM:609994 MIM:609995 MIM:610320 MIM:612554 MIM:612717 MIM:613959 MIM:613969 MIM:614166 MIM:614167 MIM:615420 MIM:615431 MIM:615946 NCI:C102533 SNOMEDCT_US_2023_03_01:155133003 UMLS_CUI:C0027092 near vision near-sightedness short-sightedness disease_ontology DOID:11830 Xref MGI. myopia MESH:D009216 DOID:11830 A refractive error characterized by the inability to see farther objects clearly. url:http://en.wikipedia.org/wiki/Myopia url:http://ghr.nlm.nih.gov/glossary=myopia url:http://www.mayoclinic.org/diseases-conditions/nearsightedness/basics/definition/con-20027548 ICD10CM:H47.61 ICD9CM:377.75 MESH:D019575 NCI:C118707 SNOMEDCT_US_2023_03_01:68574006 UMLS_CUI:C0155320 disease_ontology DOID:11831 cortical blindness DOID:11831 MESH:D012640 NCI:C3980 SNOMEDCT_US_2023_03_01:39194005 UMLS_CUI:C0270824 epilepsy, visual disease_ontology DOID:11832 visual epilepsy DOID:11832 A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities. DOID:0001874 ICD10CM:Q66.89 ICD9CM:754.51 MESH:D003025 MIM:119800 NCI:C84641 SNOMEDCT_US_2023_03_01:33163000 UMLS_CUI:C0009081 Congenital equinovarus Equinovarus deformity of foot congenital clubfoot congenital talipes equinovarus disease_ontology DOID:11836 OMIM mapping confirmed by DO. [SN]. clubfoot DOID:11836 A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities. url:http://en.wikipedia.org/wiki/Club_foot url:https://www.ncbi.nlm.nih.gov/pubmed/17610748 disease_ontology DOID:11837 obsolete malignant neoplasm of scapula and long bones of upper limb true DOID:11837 A sarcoma and malignant neoplasm of penis that is located_in the penis. NCI:C7730 UMLS_CUI:C0238352 sarcoma of penis disease_ontology DOID:11838 penis sarcoma DOID:11838 A sarcoma and malignant neoplasm of penis that is located_in the penis. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020210/ ICD10CM:C60.1 ICD9CM:187.2 SNOMEDCT_US_2023_03_01:93813005 UMLS_CUI:C0153599 malignant neoplasm of glans penis malignant tumor of glans penis malignant tumour of glans penis disease_ontology DOID:11839 glans penis cancer DOID:11839 A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. ICD10CM:N04 ICD9CM:581 MESH:D009404 NCI:C34845 SNOMEDCT_US_2023_03_01:155851004 UMLS_CUI:C0027726 disease_ontology DOID:1184 Xref MGI. nephrotic syndrome DOID:1184 A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. url:https://en.wikipedia.org/wiki/Nephrotic_syndrome url:https://www.niddk.nih.gov/health-information/kidney-disease/nephrotic-syndrome-adults MESH:D003329 NCI:C34515 SNOMEDCT_US_2023_03_01:23687008 UMLS_CUI:C0010073 Coronary Vasospasm Coronary artery spasm disease_ontology DOID:11840 coronary artery vasospasm DOID:11840 GARD:1534 ICD9CM:746.85 SNOMEDCT_US_2023_03_01:28574005 UMLS_CUI:C0158623 Congenital anomaly of coronary artery Coronary artery abnormality Coronary artery anomaly, congenital disease_ontology DOID:11843 coronary artery anomaly DOID:11843 ICD10CM:I22 MESH:D003328 SNOMEDCT_US_2023_03_01:66514008 UMLS_CUI:C0010072 Coronary artery thrombosis disease_ontology DOID:11847 coronary thrombosis DOID:11847 Ciliary body degenerative changes (disorder) degenerative changes of ciliary body (disorder) disease_ontology DOID:11849 obsolete degenerative changes of ciliary body true DOID:11849 ICD9CM:367.81 SNOMEDCT_US_2023_03_01:81519008 UMLS_CUI:C0155000 disease_ontology DOID:11850 transient refractive change DOID:11850 A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. ICD10CM:A30.0 ICD9CM:030.2 SNOMEDCT_US_2023_03_01:14386001 UMLS_CUI:C0021192 Uncharacteristic leprosy disease_ontology DOID:11851 indeterminate leprosy DOID:11851 A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. url:https://rarediseases.org/rare-diseases/leprosy/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875986/ Syphilitic endocarditis of aortic valve (disorder) disease_ontology DOID:11852 obsolete aortic valve syphilitic endocarditis true DOID:11852 ICD10CM:H50.11 ICD9CM:378.11 MESH:D005099 SNOMEDCT_US_2023_03_01:194087008 UMLS_CUI:C0152206 disease_ontology DOID:11853 monocular exotropia DOID:11853 Monocular exotropia with A pattern (disorder) disease_ontology DOID:11854 obsolete monocular exotropia with A pattern true DOID:11854 Intermittent exotropia, monocular Intermittent monocular exotropia (disorder) Monocular intermittent exotropia (disorder) disease_ontology DOID:11855 obsolete intermittent monocular exotropia true DOID:11855 Monocular exotropia with V pattern (disorder) disease_ontology DOID:11856 obsolete monocular exotropia with V pattern true DOID:11856 disease_ontology DOID:11861 obsolete prolonged pregnancy true DOID:11861 disease_ontology DOID:11862 obsolete late pregnancy true DOID:11862 ICD9CM:363.04 SNOMEDCT_US_2023_03_01:56787009 UMLS_CUI:C0339394 disease_ontology DOID:11864 peripheral focal chorioretinitis DOID:11864 disease_ontology DOID:11868 obsolete chronic erythremia true DOID:11868 MESH:D020429 SNOMEDCT_US_2023_03_01:359842002 UMLS_CUI:C0751932 Posterior tibial neuropathy disease_ontology DOID:1187 tibial neuropathy DOID:1187 A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function. GARD:7392 ICD10CM:G31.01 ICD9CM:331.11 MESH:D020774 MIM:172700 NCI:C85008 SNOMEDCT_US_2023_03_01:154998003 UMLS_CUI:C0236642 Dementia in Pick's disease LOBAR ATROPHY OF BRAIN PICK DISEASE OF BRAIN Pick disease disease_ontology DOID:11870 OMIM mapping confirmed by DO. [SN]. Pick's disease MESH:D020774 DOID:11870 A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function. url:https://www.ncbi.nlm.nih.gov/books/NBK562226/ ICD10CM:H16.11 ICD9CM:370.22 SNOMEDCT_US_2023_03_01:2853006 UMLS_CUI:C0155076 disease_ontology DOID:11871 macular keratitis DOID:11871 Septicemia due to Staphylococcus aureus (disorder) disease_ontology DOID:11872 obsolete Staphylococcus aureus septicemia true DOID:11872 disease_ontology DOID:11873 obsolete staphylococcal septicemia true DOID:11873 ICD10CM:H53.61 ICD9CM:368.63 SNOMEDCT_US_2023_03_01:50455002 UMLS_CUI:C0155019 abnormal dark adaptation curve disease_ontology DOID:11874 abnormal threshold of rods DOID:11874 ICD10CM:K12.1 MESH:D013282 SNOMEDCT_US_2023_03_01:196576008 UMLS_CUI:C0038364 Denture sore mouth disease_ontology DOID:11875 denture stomatitis DOID:11875 A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve. ICD10CM:G58.9 MESH:D020422 SNOMEDCT_US_2023_03_01:304595001 UMLS_CUI:C0494491 disease_ontology DOID:1188 mononeuropathy DOID:1188 A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve. url:https://medlineplus.gov/ency/article/000780.htm MESH:D014516 NCI:C3427 SNOMEDCT_US_2023_03_01:126882009 UMLS_CUI:C0041955 neoplasm of ureter ureteral tumor disease_ontology DOID:11885 ureteral benign neoplasm DOID:11885 An ureteral benign neoplasm that derives_from smooth muscle cells. NCI:C6161 UMLS_CUI:C1336875 ureteral leiomyoma disease_ontology DOID:11887 ureter leiomyoma DOID:11887 An ureteral benign neoplasm that derives_from smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/23894911 NCI:C6162 UMLS_CUI:C1336877 ureteral schwannoma disease_ontology DOID:11888 schwannoma of ureter DOID:11888 A female breast cancer that is located_in the nipple and areola. ICD9CM:174.0 SNOMEDCT_US_2023_03_01:188147009 UMLS_CUI:C0024621 malignant neoplasm of nipple and areola of female breast malignant neoplasm of nipple or areola of female breast disease_ontology DOID:11889 female breast nipple and areola cancer DOID:11889 A female breast cancer that is located_in the nipple and areola. url:https://www.ncbi.nlm.nih.gov/pubmed/22647686 A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa. disease_ontology sarcodina DOID:11892 obsolete Amoebozoa infectious disease true DOID:11892 A parasitic protozoa infectious disease that involves infection caused by amoeboid protozoa. url:http://en.wikipedia.org/wiki/Amoebozoa An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body. Amebic skin ulceration Amebic ulcer of skin (disorder) Amoebic skin ulceration amebic ulcer of skin disease_ontology DOID:11893 obsolete cutaneous amebiasis true DOID:11893 An amebiasis that involves infection of the skin caused by the parasite Entamoeba histolytica, resulting in lesions on the body. url:https://www.ncbi.nlm.nih.gov/pubmed/16780468 A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye. Acanthameba keratitis Acanthamoeba keratitis (disorder) disease_ontology DOID:11896 obsolete Acanthamoeba keratitis true DOID:11896 A parasitic protozoa infectious disease that involves infection of the cornea of the eye with Acanthamoeba in people wearing contact lenses. The symptoms include eye pain, eye redness, blurred vision, sensitivity to light, excessive tearing and sensation of something in the eye. url:http://www.cdc.gov/acanthamoeba/disease.html A parasitic stramenopiles infectious disease that involves infection of the intestine with a pathogenic heterokont Blastocystis hominis. The symptoms include watery diarrhea, abdominal pain, perianal pruritus, and excessive flatulence. DOID:0050248 disease_ontology DOID:11897 obsolete Blastocystis hominis infectious disease true DOID:11897 A female reproductive system cancer that is located_in the vagina. DOID:1902 GARD:9348 ICD10CM:C52 ICD9CM:184.0 MESH:D014625 NCI:C3437 NCI:C7410 SNOMEDCT_US_2023_03_01:126921000 SNOMEDCT_US_2023_03_01:188210000 UMLS_CUI:C0042237 UMLS_CUI:C0042258 malignant neoplasm of vagina malignant tumor of vagina malignant vaginal tumor neoplasm of vagina vagina neoplasm vaginal tumor disease_ontology DOID:119 vaginal cancer DOID:119 A female reproductive system cancer that is located_in the vagina. url:http://www.cancer.gov/dictionary?CdrID=523460 An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses. Amebic brain abscess Amebic brain abscess (disorder) amebic abscess of brain disease_ontology DOID:11902 obsolete cerebral amebiasis true DOID:11902 An amebiasis that involves infection of the brain caused by the parasite Entamoeba histolytica resulting in brain abscesses. url:http://emedicine.medscape.com/article/996092-overview url:http://www.ncbi.nlm.nih.gov/sites/entrez/8126521 A vulva cancer that is located_in the labium majus. ICD10CM:C51.0 ICD9CM:184.1 NCI:C7638 SNOMEDCT_US_2023_03_01:93850006 UMLS_CUI:C0496814 malignant neoplasm of labia majora malignant tumor of Labia Majora disease_ontology DOID:11905 labium majus cancer DOID:11905 A vulva cancer that is located_in the labium majus. url:https://pubmed.ncbi.nlm.nih.gov/16006794/ MESH:D004473 SNOMEDCT_US_2023_03_01:762694009 UMLS_CUI:C0013568 disease_ontology DOID:11907 ecthyma DOID:11907 ICD10CM:K31.84 ICD9CM:536.3 MESH:D018589 NCI:C80512 SNOMEDCT_US_2023_03_01:235675006 UMLS_CUI:C0152020 Gastroparalysis Gastroparesis syndrome gastric atonia disease_ontology DOID:11914 gastroparesis DOID:11914 A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze. ICD9CM:110.3 NCI:C34535 SNOMEDCT_US_2023_03_01:59089002 UMLS_CUI:C0011638 Dermatophytosis of groin & perianal area Dhobie itch dermatophytosis of groin and perianal area disease_ontology DOID:11917 tinea cruris DOID:11917 A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze. url:http://en.wikipedia.org/wiki/Tinea_cruris A nervous system cancer that is located in the peripheral nervous system. DOID:3194 MESH:D010524 MESH:D018317 NCI:C3321 NCI:C4972 SNOMEDCT_US_2023_03_01:126980002 SNOMEDCT_US_2023_03_01:189946005 UMLS_CUI:C0031118 UMLS_CUI:C0206727 neoplasm of peripheral nerve nerve sheath neoplasm tumor of PNS disease_ontology DOID:1192 peripheral nervous system neoplasm DOID:1192 A nervous system cancer that is located in the peripheral nervous system. url:http://en.wikipedia.org/wiki/Peripheral_nervous_system A respiratory system cancer that is located_in the trachea. ICD10CM:C33 ICD9CM:162.0 NCI:C9346 SNOMEDCT_US_2023_03_01:187855003 UMLS_CUI:C0153489 disease_ontology DOID:11920 tracheal cancer DOID:11920 A respiratory system cancer that is located_in the trachea. url:http://en.wikipedia.org/wiki/Lung_cancer An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx. GARD:12425 MESH:D006258 NCI:C3077 SNOMEDCT_US_2023_03_01:255055008 UMLS_CUI:C0018671 head and neck neoplasm head and neck tumours head/neck neoplasm tumor of head and neck disease_ontology DOID:11934 head and neck cancer DOID:11934 An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx. url:http://apps.who.int/bookorders/anglais/detart1.jsp?sesslan=1&codlan=1&codcol=70&codcch=9 url:http://en.wikipedia.org/wiki/Head_and_neck_cancer url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck url:http://www.cancer.gov/dictionary?CdrID=257519 disease_ontology DOID:11939 obsolete schizo-affective type schizophrenia subchronic state true DOID:11939 A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area. Leukorrhoea vaginalis - trichomonal Trichomonal leukorrhoea Trichomonal vaginitis &/or vulvovaginitis Trichomonal vaginitis (disorder) Trichomonal vulvovaginitis Trichomonal vulvovaginitis (disorder) vaginal trichomoniasis (disorder) disease_ontology DOID:11943 obsolete Trichomonas vaginitis true DOID:11943 A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area. url:http://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis. Trichomonal prostatitis Trichomonal prostatitis (disorder) disease_ontology DOID:11944 obsolete Trichomonas prostatitis true DOID:11944 A Trichomonas vaginalis trichomoniasis that involves inflammation of the prostate gland caused by Trichomonas vaginalis. url:http://www.dpd.cdc.gov/dpdx/HTML/Trichomoniasis.htm A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color. Trichomonal cystitis (disorder) disease_ontology DOID:11945 obsolete Trichomonas cystitis true DOID:11945 A Trichomonas vaginalis trichomoniasis that involves inflammation of the urinary bladder caused by Trichomonas vaginalis. The symptoms include pain during urination, foul urine odor and abnormal urine color. url:http://www.merck.com/mmpe/sec14/ch194/ch194j.html Aborter - recurrent Habitual aborter Habitual aborter - unspecified (disorder) Habitual aborter NOS (disorder) chronic spontaneous abortion recurrent abortion (disorder) recurrent miscarriage disease_ontology DOID:11946 obsolete habitual abortion true DOID:11946 Major depressive disorder, recurrent episode, in full remission recurrent major depression in complete remission (disorder) recurrent major depressive episodes, in full remission (disorder) disease_ontology DOID:11947 obsolete recurrent major depression in complete remission true DOID:11947 EFO:0004226 GARD:6956 ICD10CM:A81.0 ICD9CM:046.1 MESH:D007562 MIM:123400 NCI:C26802 SNOMEDCT_US_2023_03_01:155061007 UMLS_CUI:C0022336 CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia disease_ontology DOID:11949 OMIM mapping confirmed by DO. [SN]. Creutzfeldt-Jakob disease DOID:11949 CJD NCI:C27025 SNOMEDCT_US_2023_03_01:129611009 UMLS_CUI:C0238309 Ischemic peripheral neuropathy disease_ontology DOID:1195 ischemic neuropathy DOID:1195 DOID:11951 DOID:11953 antepartum congenital cardiovascular disorder of mother postpartum congenital cardiovascular disorder of mother disease_ontology DOID:11950 obsolete Congenital cardiovascular disorder complicating pregnancy, childbirth, or the puerperium true DOID:11950 disease_ontology DOID:11952 obsolete Congenital cardiovascular disorder of mother, with delivery true DOID:11952 Psychosexual Dysfunction with Inhibited Sexual Excitement disease_ontology DOID:11954 obsolete psychosexual dysfunction with inhibited sexual excitement true DOID:11954 disease_ontology DOID:11955 obsolete malnutrition of moderate degree true DOID:11955 DOID:11962 ICD10CM:K20 ICD9CM:530.1 MESH:D004941 NCI:C9224 SNOMEDCT_US_2023_03_01:155673008 UMLS_CUI:C0014868 acute esophagitis disease_ontology DOID:11963 esophagitis DOID:11963 An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions. Histoplasma capsulatum with retinitis (disorder) disease_ontology DOID:11964 obsolete Histoplasma capsulatum retinitis true DOID:11964 An American histoplasmosis that results_in inflammation located_in retina, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of lesions. url:https://www.ncbi.nlm.nih.gov/pubmed/1945308 A vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency. ICD10CM:N95.2 ICD9CM:627.3 SNOMEDCT_US_2023_03_01:156054004 UMLS_CUI:C0156409 Senile vaginitis atrophic vaginitis disease_ontology DOID:11968 postmenopausal atrophic vaginitis DOID:11968 A vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency. url:https://www.ncbi.nlm.nih.gov/pubmed/20003787 disease_ontology DOID:11970 obsolete symptomatic menopausal or female climacteric state true DOID:11970 A dysostosis that results_in abnormal fusing of adjacent bones. MESH:D013580 UMLS_CUI:C0039093 disease_ontology DOID:11971 synostosis DOID:11971 A dysostosis that results_in abnormal fusing of adjacent bones. url:http://en.wikipedia.org/wiki/Synostosis url:http://medical-dictionary.thefreedictionary.com/synostosis GARD:13354 GARD:8502 ICD10CM:Q14.2 ICD9CM:377.23 MESH:C535970 MIM:120430 SNOMEDCT_US_2023_03_01:44295002 UMLS_CUI:C0155299 Coloboma of optic disc Morning glory syndrome disease_ontology DOID:11975 OMIM mapping confirmed by DO. [SN]. coloboma of optic nerve DOID:11975 A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. GARD:943 ICD10CM:A05.1 MESH:D001906 NCI:C84599 SNOMEDCT_US_2023_03_01:154276003 UMLS_CUI:C0006057 Botulism poisoning Food poisoning due to Clostridium botulinum Foodborne botulism Infection due to clostridium botulinum Intoxication with Clostridium botulinum toxin disease_ontology DOID:11976 botulism DOID:11976 A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. url:http://en.wikipedia.org/wiki/Botulism url:https://en.wikipedia.org/wiki/Botulism url:https://www.cdc.gov/botulism/index.html Magnesium disorder disorder of magnesium metabolism disorder of magnesium metabolism (disorder) disorder of magnesium metabolism NOS (disorder) disease_ontology DOID:11977 obsolete disorder of magnesium metabolism true DOID:11977 disease_ontology DOID:11978 obsolete chronic pyelonephritis without lesion of renal medullary necrosis true DOID:11978 ICD9CM:278.01 MESH:D009767 NCI:C34858 SNOMEDCT_US_2023_03_01:389986000 UMLS_CUI:C0028756 Severe obesity disease_ontology DOID:11981 morbid obesity DOID:11981 1 A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity. GARD:5575 ICD10CM:Q87.11 ICD9CM:759.81 MESH:D011218 MIM:176270 NCI:C75463 ORDO:739 SNOMEDCT_US_2023_03_01:205794007 UMLS_CUI:C0032897 Prader Willi syndrome disease_ontology DOID:11983 OMIM mapping confirmed by DO. [SN]. Prader-Willi syndrome DOID:11983 A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity. url:https://ghr.nlm.nih.gov/condition/prader-willi-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1330/ An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. DOID:11986 ICD9CM:425.1 KEGG:05410 MESH:D002312 NCI:C34449 ORDO:217569 SNOMEDCT_US_2023_03_01:389998005 UMLS_CUI:C0007194 hypertrophic obstructive cardiomyopathy disease_ontology DOID:11984 Xref MGI. OMIM mapping confirmed by DO. [SN]. hypertrophic cardiomyopathy DOID:11984 An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. url:http://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy url:http://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747 url:http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ gonococcal infectious disease of anus and rectum gonococcal proctitis disease_ontology DOID:11987 obsolete anorectal gonorrhea true DOID:11987 ICD10CM:H11.12 ICD9CM:372.54 SNOMEDCT_US_2023_03_01:13706005 UMLS_CUI:C0155162 disease_ontology DOID:11988 conjunctival concretion DOID:11988 A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion. ICD10CM:A21.0 ICD9CM:021.0 SNOMEDCT_US_2023_03_01:37722001 UMLS_CUI:C0152941 disease_ontology DOID:11990 ulceroglandular tularemia DOID:11990 A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion. url:http://www.cdc.gov/tularemia/signssymptoms/ An osteosclerosis that results_in numerous bone islands located_in skeleton. GARD:4158 ICD10CM:Q78.8 ICD9CM:756.53 MESH:D010023 NCI:C84985 SNOMEDCT_US_2023_03_01:9147009 UMLS_CUI:C0029455 disease_ontology DOID:11991 osteopoikilosis DOID:11991 An osteosclerosis that results_in numerous bone islands located_in skeleton. url:http://en.wikipedia.org/wiki/Osteopoikilosis ICD10CM:N50.0 ICD9CM:608.3 NCI:C123259 SNOMEDCT_US_2023_03_01:155938008 UMLS_CUI:C0156312 disease_ontology DOID:11994 atrophy of testis DOID:11994 ICD10CM:N44.02 ICD9CM:608.2 MESH:D013086 MIM:187400 NCI:C26885 SNOMEDCT_US_2023_03_01:198046000 UMLS_CUI:C0037856 Torsion of testicle Torsion of testis testicular Torsion disease_ontology DOID:11996 spermatic cord torsion DOID:11996 ICD10CM:N43.4 ICD9CM:608.1 MESH:D013088 NCI:C120909 SNOMEDCT_US_2023_03_01:155936007 UMLS_CUI:C0037859 disease_ontology DOID:11997 spermatocele DOID:11997 A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva. DOID:1244 DOID:1281 ICD10CM:C57 ICD9CM:184 MESH:D005833 NCI:C3053 NCI:C4913 SNOMEDCT_US_2023_03_01:126907002 SNOMEDCT_US_2023_03_01:188207007 UMLS_CUI:C0017416 UMLS_CUI:C0153585 UMLS_CUI:C0699889 female reproductive cancer malignant Gynecologic tumor malignant neoplasm of female genital organ disease_ontology DOID:120 female reproductive organ cancer DOID:120 A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva. url:http://en.wikipedia.org/wiki/Template:Female_genital_neoplasia url:http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm metastatic tumor to the Trachea secondary malignant neoplasm of trachea (disorder) disease_ontology DOID:12000 obsolete secondary malignant neoplasm of trachea true DOID:12000 NCI:C6248 UMLS_CUI:C1336773 Lymphoma of Trachea lymphoma of the trachea disease_ontology DOID:12001 tracheal lymphoma DOID:12001 A sarcoma and malignant tumor of trachea that is located_in the trachea. NCI:C6050 UMLS_CUI:C1336774 sarcoma of the trachea disease_ontology DOID:12002 trachea sarcoma DOID:12002 A sarcoma and malignant tumor of trachea that is located_in the trachea. url:http://en.wikipedia.org/wiki/Lung_cancer A squamous cell carcinoma that is located_in the trachea. NCI:C4448 SNOMEDCT_US_2023_03_01:254620000 UMLS_CUI:C0345946 Tracheal Epidermoid carcinoma disease_ontology DOID:12003 trachea squamous cell carcinoma DOID:12003 A squamous cell carcinoma that is located_in the trachea. url:https://www.ncbi.nlm.nih.gov/pubmed/26066883 NCI:C5122 SNOMEDCT_US_2023_03_01:126971002 UMLS_CUI:C1263897 neoplasm of trigeminal nerve tumor of Trigeminal nerve disease_ontology DOID:1201 trigeminal nerve neoplasm DOID:1201 GARD:9790 ICD10CM:H47.01 ICD9CM:377.41 MESH:D018917 SNOMEDCT_US_2023_03_01:14357004 UMLS_CUI:C0155305 Ischemic optic neuropathy disease_ontology DOID:12010 anterior ischemic optic neuropathy DOID:12010 DOID:12015 ICD10CM:C71.1 ICD9CM:191.1 NCI:C5572 SNOMEDCT_US_2023_03_01:126954003 SNOMEDCT_US_2023_03_01:93807001 UMLS_CUI:C0153635 UMLS_CUI:C1263886 malignant neoplasm of frontal lobe neoplasm of frontal lobe tumor of Frontal Lobe disease_ontology DOID:12016 frontal lobe neoplasm DOID:12016 A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly. Group B Group B streptococcal pneumonia (disorder) Pneumonia due to Streptococcus Group B disease_ontology DOID:12017 obsolete group B streptococcal pneumonia true DOID:12017 A commensal streptococcal infectious disease that is caused by group B streptococci (Streptococcus agalactiae) usually infecting neonates and the elderly. url:http://en.wikipedia.org/wiki/Streptococcus#Group_B url:https://www.ncbi.nlm.nih.gov/pubmed/11462195 A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst. pneumonia due to streptococcus group A disease_ontology DOID:12019 obsolete group A streptococcal pneumonia true DOID:12019 A commensal streptococcal infectious disease that is caused due to the infection by group A streptococci, of which Streptococcus pyogenes is the most important pathogen. The infection results in the development of empyema, pneumothorax, and cyst. url:http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA419&lpg#v=onepage&q=&f=false malignant neoplasm of corpus uteri, excluding isthmus (disorder) disease_ontology DOID:12020 obsolete malignant neoplasm of corpus uteri, except isthmus true DOID:12020 Leukemic reticuloendotheliosis involving intrathoracic lymph nodes Leukemic reticuloendotheliosis of intrathoracic lymph nodes (disorder) Leukemic reticuloendotheliosis of intrathoracic lymph nodes [dup] (disorder) disease_ontology DOID:12021 obsolete leukemic reticuloendotheliosis of intrathoracic lymph nodes true DOID:12021 spontaneous abortion, unspecified, complicated by genital tract and pelvic infection disease_ontology DOID:12022 obsolete spontaneous abortion complicated by genital tract and pelvic infectious disease true DOID:12022 An adrenal adenoma characterized by the over production of aldosterone. GARD:7456 ICD10CM:E26.01 ICD9CM:255.12 MESH:D006929 NCI:C34510 SNOMEDCT_US_2023_03_01:13536004 UMLS_CUI:C1384514 Conn syndrome primary aldosteronism disease_ontology DOID:12028 Conn's syndrome DOID:12028 An adrenal adenoma characterized by the over production of aldosterone. url:http://en.wikipedia.org/wiki/Conn%27s_syndrome A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia. ICD10CM:H44.13 ICD9CM:360.11 MESH:D009879 SNOMEDCT_US_2023_03_01:75315001 UMLS_CUI:C0029077 Sympathetic uveitis disease_ontology DOID:12029 sympathetic ophthalmia DOID:12029 A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia. url:http://eyewiki.aao.org/Sympathetic_Ophthalmia url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3277011/ ICD9CM:292.8 UMLS_CUI:C0154325 disease_ontology DOID:1203 drug-induced mental disorder DOID:1203 An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid. GARD:8577 ICD10CM:H44.11 ICD9CM:360.12 MESH:D015864 NCI:C84989 SNOMEDCT_US_2023_03_01:75614007 UMLS_CUI:C0030343 Diffuse uveitis disease_ontology DOID:12030 panuveitis DOID:12030 An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid. url:https://rarediseases.info.nih.gov/diseases/8577/panuveitis Arthropathy associated with a hypersensitivity reaction (disorder) Arthropathy associated with hypersensitivity reaction disease_ontology DOID:1204 obsolete arthropathy due to hypersensitivity reaction true DOID:1204 Hydrops fetalis - due to isoim Hydrops fetalis due to isoimmunization Hydrops fetalis due to isoimmunization (disorder) Hydrops fetalis due to isoimmunization [dup] (disorder) disease_ontology DOID:12040 obsolete immune hydrops fetalis true DOID:12040 ICD10CM:P57.0 ICD9CM:773.4 NCI:C101270 SNOMEDCT_US_2023_03_01:206433007 UMLS_CUI:C0270204 disease_ontology DOID:12043 kernicterus due to isoimmunization DOID:12043 An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. allergic disease ICD10CM:T78.40 MESH:D006967 NCI:C3114 SNOMEDCT_US_2023_03_01:257550005 UMLS_CUI:C0020517 allergic hypersensitivity disease hypersensitivity hypersensitivity reaction type I disease disease_ontology DOID:1205 allergic disease DOID:1205 An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. url:http://en.wikipedia.org/wiki/Allergy ls:IEDB A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion. Cryptococcal meningitis Cryptococcal meningitis (disorder) disease_ontology DOID:12052 obsolete cryptococcal meningitis true DOID:12052 A cryptococcosis that results_in inflammation located_in meninges, has_material_basis_in Cryptococcus neoformans and has_symptom headache, has_symptom nausea, has_symptom staggering gait, has_symptom dementia, has_symptom blurred vision and has_symptom confusion. url:http://en.wikipedia.org/wiki/Cryptococcosis url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii. GARD:6218 ICD10CM:B45 ICD9CM:117.5 MESH:D003453 NCI:C2967 SNOMEDCT_US_2023_03_01:42386007 UMLS_CUI:C0010414 Busse-Buschke's disease European cryptococcosis cryptococcal infection torula torulosis disease_ontology cryptococcus neoformans infection DOID:12053 cryptococcosis MESH:D003453 DOID:12053 An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii. url:http://en.wikipedia.org/wiki/Cryptococcosis A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species. Meningitis due to trypanosomiasis Trypanosomiasis with meningitis (disorder) trypanosomiasis with meningitis disease_ontology DOID:12054 obsolete Trypanosoma meningitis true DOID:12054 A trypanosomiasis that involves inflammation of the meninges caused due to Trypanosoma species. url:http://www.tropicalmedandhygienejrnl.net/article/0035-9203%2895%2990637-1/abstract ICD10CM:D86.81 ICD9CM:321.4 SNOMEDCT_US_2023_03_01:192673008 UMLS_CUI:C0154648 Meningitis in sarcoidosis disease_ontology DOID:12055 sarcoid meningitis DOID:12055 Non-pyogenic meningitis (disorder) Nonpyogenic meningitis Nonpyogenic meningitis (disorder) disease_ontology DOID:12056 obsolete meningitis with clear cerebrospinal fluid true DOID:12056 DOID:12059 Fetal-maternal hemorrhage, with delivery disease_ontology DOID:12058 obsolete Fetal-maternal hemorrhage affecting management of mother true DOID:12058 A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. GARD:5696 ICD10CM:F84.2 MESH:D015518 MIM:312750 MIM:613454 NCI:C75488 SNOMEDCT_US_2023_03_01:192583003 UMLS_CUI:C0035372 Rett's disorder cerebroatrophic hyperammonemia disease_ontology DOID:1206 OMIM mapping confirmed by DO. [SN]. Rett syndrome DOID:1206 A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. url:http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm url:http://www.ninds.nih.gov/disorders/rett/detail_rett.htm url:https://medlineplus.gov/ency/article/001536.htm Fetal blood loss (disorder) Fetal blood loss NOS (disorder) Fetal blood loss, unspecified (disorder) Fetal haemorrhage disease_ontology DOID:12061 obsolete fetal blood loss true DOID:12061 NCI:C6631 UMLS_CUI:C1334674 Neurofibroma of mediastinum disease_ontology DOID:12064 mediastinum neurofibroma DOID:12064 Ganglioneuroma of mediastinum disease_ontology DOID:12065 obsolete ganglioneuroma of the mediastinum true DOID:12065 DOID:11791 GARD:10930 ICD10CM:K31.82 ICD9CM:537.84 UMLS_CUI:C1135229 Dieulafoy lesion (hemorrhagic) of intestine dieulafoy lesion (hemorrhagic) of stomach and duodenum disease_ontology DOID:12070 Dieulafoy lesion DOID:12070 ICD9CM:537.81 SNOMEDCT_US_2023_03_01:335002 UMLS_CUI:C0152163 disease_ontology DOID:12072 pylorospasm DOID:12072 disease_ontology DOID:12076 obsolete interstitial emphysema and related conditions of newborn true DOID:12076 DOID:10502 DOID:11494 DOID:12080 DOID:12081 DOID:12083 DOID:2091 DOID:9424 ICD9CM:716.41 SNOMEDCT_US_2023_03_01:201988000 UMLS_CUI:C0158007 Transient arthropathy involving forearm Transient arthropathy involving hand Transient arthropathy involving lower leg Transient arthropathy involving multiple sites Transient arthropathy involving pelvic region and thigh Transient arthropathy involving shoulder region Transient arthropathy involving upper arm disease_ontology DOID:12084 transient arthropathy DOID:12084 ICD10CM:H16.44 ICD9CM:370.63 SNOMEDCT_US_2023_03_01:2102007 UMLS_CUI:C0155095 Deep vascularization of cornea disease_ontology DOID:12087 deep corneal vascularisation DOID:12087 An optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, has_symptom painless bilateral progressive decrease in visual acuity and color perception, and has_material_basis_in nuritional deficits, especially of folate and vitamin B, which can be associated with restrictive diets and alcohol abuse. ICD10CM:H46.2 ICD9CM:377.33 SNOMEDCT_US_2023_03_01:82108004 UMLS_CUI:C0155302 disease_ontology DOID:1209 nutritional optic neuropathy DOID:1209 An optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, has_symptom painless bilateral progressive decrease in visual acuity and color perception, and has_material_basis_in nuritional deficits, especially of folate and vitamin B, which can be associated with restrictive diets and alcohol abuse. url:https://www.ncbi.nlm.nih.gov/pubmed/25345287 vitamin A deficiency with corneal xerosis (disorder) disease_ontology DOID:12091 obsolete vitamin A deficiency with corneal xerosis true DOID:12091 disease_ontology DOID:12092 obsolete Galactorrhea associated with childbirth true DOID:12092 A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain. ICD10CM:A25.0 ICD9CM:026.0 MESH:D011906 SNOMEDCT_US_2023_03_01:19044004 UMLS_CUI:C0152062 Spirillary fever disease_ontology Spirillosis DOID:12096 sodoku disease DOID:12096 A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain. url:http://en.wikipedia.org/wiki/Rat_bite_fever url:http://protmed.uoradea.ro/facultate/anale/protectia_mediului/2009/miscellaneous/06.Indries%20Mirela%202.pdf Rat bite fever (disorder) Rat-bite fever Rat-bite fever NOS (disorder) Rat-bite fever, unspecified (disorder) Unspecified rat-bite fever disease_ontology DOID:12097 obsolete rat-bite fever true DOID:12097 GARD:7805 ICD10CM:G50.0 ICD9CM:350.1 MESH:D014277 MIM:190400 SNOMEDCT_US_2023_03_01:155066002 UMLS_CUI:C0040997 Trifacial neuralgia trifocal neuralgia disease_ontology DOID:12098 OMIM mapping confirmed by DO. [LS]. trigeminal neuralgia DOID:12098 A female reproductive system disease that is located_in the vagina. MESH:D014623 NCI:C26910 SNOMEDCT_US_2023_03_01:25658005 UMLS_CUI:C0042251 disease_ontology DOID:121 vaginal disease DOID:121 A female reproductive system disease that is located_in the vagina. url:https://en.wikipedia.org/wiki/Vaginal_disease An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. GARD:7320 ICD10CM:H46 ICD9CM:377.3 MESH:D009902 NCI:C84950 SNOMEDCT_US_2023_03_01:194051001 UMLS_CUI:C0029134 disease_ontology DOID:1210 optic neuritis DOID:1210 An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. url:https://www.mayoclinic.org/diseases-conditions/optic-neuritis/symptoms-causes/syc-20354953 sn:IEDB vitamin A deficiency with corneal ulceration AND xerosis (disorder) vitamin A deficiency with corneal ulceration and xerosis vitamin A deficiency with corneal xerosis and ulcer (disorder) disease_ontology DOID:12104 obsolete vitamin A deficiency with corneal xerosis and ulcer true DOID:12104 ICD9CM:720.81 SNOMEDCT_US_2023_03_01:6963001 UMLS_CUI:C0021396 Inflammatory spondylopathies in disease EC Inflammatory spondylopathies in disease classified elsewhere Inflammatory spondylopathy in disease classified elsewhere disease_ontology DOID:12105 inflammatory spondylopathy DOID:12105 Syphilitic endocarditis of tricuspid valve (disorder) disease_ontology DOID:12106 obsolete tricuspid valve syphilitic endocarditis true DOID:12106 primary retinal cyst (disorder) primary retinal cysts disease_ontology DOID:12107 obsolete primary retinal cyst true DOID:12107 ICD9CM:361.12 SNOMEDCT_US_2023_03_01:65545003 UMLS_CUI:C0344289 disease_ontology DOID:12108 bullous retinoschisis DOID:12108 vitamin A deficiency with xerophthalmic corneal scars (disorder) vitamin A deficiency with xerophthalmic scars of cornea vitamin A deficiency with xerophthalmic scars of cornea (disorder) disease_ontology DOID:12111 obsolete vitamin A deficiency with xerophthalmic corneal scar true DOID:12111 nerve conduction deafness neural hearing loss neural hearing loss (finding) disease_ontology DOID:12113 obsolete nerve deafness true DOID:12113 A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills. Septic sore throat due to streptococcal infection Strept throat Streptococcal angina Streptococcal sore throat Streptococcal sore throat NOS (disorder) disease_ontology DOID:12115 obsolete streptococcal pharyngitis true DOID:12115 A commensal streptococcal infectious disease that involves infection of the pharynx and sometimes the larynx and tonsils. It is caused by Group A Streptococcus bacteria. The common symptoms include fever, sore throat, headache, stomach ache, nausea, or chills. url:http://www.nlm.nih.gov/medlineplus/ency/article/000639.htm A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs. GARD:11894 ICD10CM:J84.02 ICD9CM:516.2 MESH:C562405 MIM:265100 SNOMEDCT_US_2023_03_01:196160008 UMLS_CUI:C0155912 disease_ontology DOID:12117 OMIM mapping confirmed by DO. [SN]. pulmonary alveolar microlithiasis DOID:12117 A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs. url:https://pubmed.ncbi.nlm.nih.gov/27514591/ A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h. DOID:0050330 ICD10CM:J84.03 ICD9CM:516.1 MESH:D000097545 MIM:178550 MIM:235500 ORDO:99931 SNOMEDCT_US_2023_03_01:190848001 UMLS_CUI:C0020807 Idiopathic pulmonary hemosiderosis brown induration brown lung disease_ontology DOID:12118 MESH C536281 obsoleted in 2024.[LS] pulmonary hemosiderosis DOID:12118 A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h. url:http://en.wikipedia.org/wiki/Brown_induration url:http://en.wikipedia.org/wiki/Idiopathic_pulmonary_haemosiderosis url:https://erj.ersjournals.com/content/24/1/162.full An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. GARD:6595 MESH:D006486 SNOMEDCT_US_2023_03_01:39011001 UMLS_CUI:C0019114 haemosiderosis disease_ontology DOID:12119 hemosiderosis DOID:12119 An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. url:http://en.wikipedia.org/wiki/Hemosiderosis A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. ICD10CM:J84.01 ICD9CM:516.0 MESH:D011649 MIM:265120 MIM:300770 MIM:610913 MIM:610921 MIM:614370 NCI:C85037 ORDO:264675 SNOMEDCT_US_2023_03_01:10501004 UMLS_CUI:C0034050 disease_ontology DOID:12120 Xref MGI. pulmonary alveolar proteinosis DOID:12120 A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. url:http://en.wikipedia.org/wiki/Pulmonary_alveolar_proteinosis secondary syphilitic periostitis (disorder) disease_ontology DOID:12121 obsolete secondary syphilitic periostitis true DOID:12121 ICD10CM:J84.10 ICD9CM:515 SNOMEDCT_US_2023_03_01:266368002 UMLS_CUI:C0175999 Post-inflammatory pulmonary fibrosis disease_ontology DOID:12123 postinflammatory pulmonary fibrosis DOID:12123 A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate. ICD10CM:H15.11 ICD9CM:379.01 SNOMEDCT_US_2023_03_01:194141004 UMLS_CUI:C0155351 disease_ontology DOID:12124 episcleritis periodica fugax DOID:12124 A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate. url:https://eyewiki.aao.org/Episcleritis ICD10CM:H16.23 ICD9CM:370.35 SNOMEDCT_US_2023_03_01:193777005 UMLS_CUI:C0155084 disease_ontology DOID:12125 neurotrophic keratoconjunctivitis DOID:12125 An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients. ICD9CM:307.52 MESH:D010842 NCI:C92566 SNOMEDCT_US_2023_03_01:14077003 UMLS_CUI:C0031873 disease_ontology DOID:12128 pica disease DOID:12128 An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients. url:http://en.wikipedia.org/wiki/Pica_%28disorder%29 An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem. ICD10CM:F50.2 MESH:D002032 SNOMEDCT_US_2023_03_01:78004001 UMLS_CUI:C0006370 hyperorexia nervosa disease_ontology DOID:12129 Xref MGI. bulimia nervosa DOID:12129 An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem. url:http://en.wikipedia.org/wiki/Bulimia_nervosa Tympanosclerosis involving tympanic membrane AND ear ossicles (disorder) Tympanosclerosis involving tympanic membrane and ear ossicles disease_ontology DOID:1213 obsolete Tympanosclerosis of tympanic membrane and ossicles true DOID:1213 An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. GARD:7880 ICD10CM:M31.3 ICD9CM:446.4 MESH:D014890 MIM:608710 NCI:C3444 SNOMEDCT_US_2023_03_01:195353004 UMLS_CUI:C3495801 Necrotizing respiratory granulomatosis Wegener granulomatosis, formerly disease_ontology DOID:12132 granulomatosis with polyangiitis DOID:12132 An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. url:https://en.wikipedia.org/wiki/Granulomatosis_with_polyangiitis A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children). Infection by Yersinia enterocolitica (disorder) Yersinia enterocolitis infectious disease by Yersinia enterocolitica intestinal infection due to yersinia enterocolitica disease_ontology DOID:12133 obsolete Yersinia enterocolitica intestinal infectious disease true DOID:12133 A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children). url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/yersinia_g.htm A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. GARD:6591 ICD10CM:D66 ICD9CM:286.0 MESH:D006467 MIM:306700 NCI:C27146 ORDO:98878 SNOMEDCT_US_2023_03_01:28293008 UMLS_CUI:C0019069 Congenital factor VIII disorder Hemophilia A Subhemophilia classic hemophilia classic hemophilia A disease_ontology DOID:12134 OMIM mapping confirmed by DO. [SN]. factor VIII deficiency MESH:D006467 DOID:12134 A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. url:http://en.wikipedia.org/wiki/Hemophilia_A sn:IEDB acquired factor VIII deficiency disease (disorder) disease_ontology DOID:12135 obsolete acquired factor VIII deficiency true DOID:12135 acquired coagulation factor deficiency acquired coagulation factor deficiency (disorder) acquired coagulation factor deficiency NOS (disorder) disease_ontology DOID:12136 obsolete acquired coagulation factor deficiency true DOID:12136 A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. ICD10CM:F34.1 ICD9CM:300.4 MESH:D019263 NCI:C34562 SNOMEDCT_US_2023_03_01:192384008 UMLS_CUI:C0013415 dysthymia disease_ontology DOID:12139 dysthymic disorder DOID:12139 A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. url:http://en.wikipedia.org/wiki/Mood_disorder ICD9CM:385.09 SNOMEDCT_US_2023_03_01:111540000 UMLS_CUI:C0155477 disease_ontology DOID:1214 tympanosclerosis DOID:1214 A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis. DOID:0050016 DOID:0050019 DOID:0050020 GARD:6030 ICD9CM:086.2 KEGG:05142 MESH:D014355 ORDO:3386 SNOMEDCT_US_2023_03_01:77506005 UMLS_CUI:C0041234 Chagas' disease chagas' disease with digestive system involvement chagas' disease with nervous system involvement chagas' disease with other organ involvement disease_ontology American trypanosomiasis DOID:12140 Chagas disease DOID:12140 A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis. url:http://en.wikipedia.org/wiki/Chagas_disease An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion. disease_ontology non-arthropod-borne meningitis due to adenovirus DOID:12141 obsolete adenovirus meningitis true DOID:12141 An adenovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7 and has_symptom fever, has_symptom headache, has_symptom stiff neck, and has_symptom confusion. url:http://emedicine.medscape.com/article/1168529-overview url:http://virology-online.com/viruses/Adenoviruses3.htm url:http://www.cdc.gov/meningitis/about/faq.html ICD9CM:596.54 MESH:D001750 NCI:C79696 SNOMEDCT_US_2023_03_01:192972000 UMLS_CUI:C0005697 Neuropathic bladder neurogenic dysfunction of the urinary bladder neurogenic urinary bladder disorder disease_ontology DOID:12143 neurogenic bladder DOID:12143 ICD9CM:596.52 SNOMEDCT_US_2023_03_01:9009001 UMLS_CUI:C0489967 Low bladder compliance hyperactivity of bladder hypertonic bladder hypertonicity of bladder disease_ontology DOID:12144 low compliance bladder DOID:12144 ICD9CM:596.55 SNOMEDCT_US_2023_03_01:236655005 UMLS_CUI:C0341747 disease_ontology DOID:12145 detrusor sphincter dyssynergia DOID:12145 An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain. DOID:12147 DOID:2774 GARD:207 ICD10CM:B67.7 ICD9CM:122.7 MESH:C536591 SNOMEDCT_US_2023_03_01:21009004 UMLS_CUI:C0152069 Multilocular hydatid alveolococcosis small fox tapeworm disease_ontology echinococcus multilocularis infection DOID:12148 alveolar echinococcosis DOID:12148 An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain. url:http://en.wikipedia.org/wiki/Echinococcosis Tympanosclerosis involving tympanic membrane only Tympanosclerosis involving tympanic membrane only (disorder) disease_ontology DOID:1215 obsolete Tympanosclerosis of tympanic membrane only true DOID:1215 Cholelithiasis AND acute cholecystitis with obstruction (disorder) gallbladder calculus with acute cholecystitis and obstruction (disorder) gallbladder calculus with acute cholecystitis and obstruction NOS (disorder) disease_ontology DOID:12150 obsolete calculus of gallbladder with acute cholecystitis, with obstruction true DOID:12150 disease_ontology DOID:12151 obsolete currently pregnant habitual aborter true DOID:12151 A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in Mammarenavirus choriomeningitidis, which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting. DOID:10662 ICD10CM:A87.2 MESH:D008216 NCI:C174114 SNOMEDCT_US_2023_03_01:192668002 UMLS_CUI:C0024266 LCM Lymphocytic choriomeningitis virus encephalomyelitis Lymphocytic meningitis Lymphocytic meningoencephalitis disease_ontology DOID:12155 lymphocytic choriomeningitis DOID:12155 A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in Mammarenavirus choriomeningitidis, which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting. url:http://en.wikipedia.org/wiki/Lymphocytic_choriomeningitis LCM GARD:5839 ICD10CM:G03 MESH:D001100 NCI:C37913 SNOMEDCT_US_2023_03_01:154986008 UMLS_CUI:C0003708 disease_ontology DOID:12156 arachnoiditis DOID:12156 A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses. ICD10CM:G03.0 MESH:D008582 NCI:C118299 SNOMEDCT_US_2023_03_01:186490006 UMLS_CUI:C0025290 acute aseptic meningitis disease_ontology DOID:12157 aseptic meningitis DOID:12157 A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2728900/ url:https://www.ncbi.nlm.nih.gov/pubmed/23622323 ICD10CM:H35.4 ICD9CM:362.6 NCI:C34919 SNOMEDCT_US_2023_03_01:193393004 UMLS_CUI:C1320640 peripheral degeneration of retina disease_ontology DOID:12161 peripheral retinal degeneration DOID:12161 ICD10CM:H35.45 ICD9CM:362.65 SNOMEDCT_US_2023_03_01:35545005 UMLS_CUI:C0154858 secondary pigmentary degeneration of retina secondary pigmentary retinal degeneration disease_ontology DOID:12162 pseudoretinitis pigmentosa DOID:12162 ICD9CM:362.64 SNOMEDCT_US_2023_03_01:54184008 UMLS_CUI:C0154857 Senile reticular degeneration of retina disease_ontology DOID:12163 senile reticular retinal degeneration DOID:12163 ICD10CM:H35.42 ICD9CM:362.62 SNOMEDCT_US_2023_03_01:37075008 UMLS_CUI:C0154855 Blessig cysts Iwanoff's cysts Microcystoid degeneration of retina Microcystoid retinal degeneration disease_ontology DOID:12164 Blessig's cysts DOID:12164 ICD10CM:H35.41 ICD9CM:362.63 SNOMEDCT_US_2023_03_01:3577000 UMLS_CUI:C0154856 Palisade degeneration of retina disease_ontology DOID:12165 retinal lattice degeneration DOID:12165 ICD10CM:H35.43 ICD9CM:362.61 SNOMEDCT_US_2023_03_01:69134001 UMLS_CUI:C0154854 Paving stone degeneration of retina Paving stone retinal degeneration disease_ontology DOID:12166 cobblestone retinal degeneration DOID:12166 ICD10CM:H35.46 ICD9CM:362.66 SNOMEDCT_US_2023_03_01:193397003 UMLS_CUI:C0154859 disease_ontology DOID:12167 secondary vitreoretinal degeneration DOID:12167 ICD10CM:G56.2 ICD9CM:354.2 SNOMEDCT_US_2023_03_01:55802003 UMLS_CUI:C1288279 Lesion of ulnar nerve disease_ontology DOID:12168 ulnar nerve lesion DOID:12168 A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm. ICD10CM:G56.0 ICD9CM:354.0 MESH:D002349 MIM:PS115430 NCI:C34450 SNOMEDCT_US_2023_03_01:193126005 UMLS_CUI:C0007286 CTS - Carpal tunnel syndrome Median nerve entrapment carpal tunnel median neuropathy disease_ontology DOID:12169 carpal tunnel syndrome DOID:12169 A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm. url:https://en.wikipedia.org/wiki/Carpal_tunnel_syndrome url:https://medlineplus.gov/ency/article/000433.htm url:https://orthoinfo.aaos.org/en/diseases--conditions/carpal-tunnel-syndrome/ A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna. MESH:D005213 SNOMEDCT_US_2023_03_01:69550000 UMLS_CUI:C0015655 disease_ontology DOID:1217 fascioloidiasis DOID:1217 A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna. url:http://en.wikipedia.org/wiki/Fascioloides_magna ICD10CM:G56.3 ICD9CM:354.3 SNOMEDCT_US_2023_03_01:16644004 UMLS_CUI:C0154744 Lesion of radial nerve Radial nerve lesions disease_ontology DOID:12170 radial nerve lesion DOID:12170 MESH:D020425 SNOMEDCT_US_2023_03_01:16644004 UMLS_CUI:C0748226 disease_ontology DOID:12171 radial neuropathy DOID:12171 ICD10CM:E07.1 ICD9CM:246.1 SNOMEDCT_US_2023_03_01:190304001 UMLS_CUI:C0152077 dyshormonogenic goitre disease_ontology DOID:12175 dyshormonogenic goiter DOID:12175 A thyroid gland disease that involves an abnormal enlargement of the thyroid gland. ICD10CM:E04.9 ICD9CM:240.9 MESH:D006042 NCI:C26785 SNOMEDCT_US_2023_03_01:237568003 UMLS_CUI:C0018021 goitre disease_ontology DOID:12176 goiter MESH:D006042 DOID:12176 A thyroid gland disease that involves an abnormal enlargement of the thyroid gland. url:http://www.thyroid.org/patients/patient_brochures/goiter.html An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens. GARD:6140 ICD10CM:D83 ICD9CM:279.06 MESH:D017074 MIM:PS607594 ORDO:1572 SNOMEDCT_US_2023_03_01:191010004 UMLS_CUI:C0009447 CVID acquired agammaglobulinemia acquired hypogammaglobulinemia common variable agammaglobulinemia sporadic hypogammaglobulinemia disease_ontology DOID:12177 Xref MGI. OMIM mapping confirmed by DO. [SN]. common variable immunodeficiency DOID:12177 An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens. url:http://en.wikipedia.org/wiki/Common_variable_immunodeficiency url:http://www.merck.com/mmpe/sec13/ch164/ch164g.html CVID A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly. ICD9CM:110.5 SNOMEDCT_US_2023_03_01:186994008 UMLS_CUI:C0546826 Dermatophytosis of the trunk dermatophytosis of the body disease_ontology DOID:12179 tinea corporis DOID:12179 A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly. url:http://www.nlm.nih.gov/medlineplus/ency/article/000877.htm A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain. ICD10CM:B66.8 MESH:D004451 SNOMEDCT_US_2023_03_01:36607007 UMLS_CUI:C0013514 Infection by Echinochasmus disease_ontology DOID:1218 echinostomiasis DOID:1218 A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain. url:http://www.dpd.cdc.gov/dpdx/HTML/Echinostomiasis.htm fetal macrosomia disease_ontology DOID:12180 obsolete Fetal Macrosomia true DOID:12180 An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. EFO:0004213 ICD10CM:H80.80 ICD9CM:387.8 MIM:PS166800 ORDO:2794 SNOMEDCT_US_2023_11_01:11543004 UMLS_CUI:C0029696 disease_ontology DOID:12185 Xref MGI, ICD10 code updated to H80. otosclerosis MESH:D010040 DOID:12185 An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. url:http://en.wikipedia.org/wiki/Otosclerosis url:http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/middle_ear_and_tympanic_membrane_disorders/otosclerosis.html?qt=otosclerosis&alt=sh disease_ontology DOID:12189 obsolete metastatic tumor to the colon true DOID:12189 A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain. ICD10CM:B66.2 MESH:D004011 SNOMEDCT_US_2023_03_01:8410006 UMLS_CUI:C0012102 disease due to Dicrocoeliidae disease_ontology DOID:1219 dicrocoeliasis DOID:1219 A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain. url:http://www.dpd.cdc.gov/dpdx/HTML/Dicrocoeliasis.htm ICD10CM:C18.6 ICD9CM:153.2 SNOMEDCT_US_2023_03_01:93771007 UMLS_CUI:C0153435 Ca descending colon malignant neoplasm of left colon malignant tumor of descending colon disease_ontology DOID:12190 descending colon cancer DOID:12190 ICD10CM:C18.5 ICD9CM:153.7 SNOMEDCT_US_2023_03_01:94072004 UMLS_CUI:C0153440 Ca splenic flexure - colon malignant neoplasm of splenic flexure malignant tumor of splenic flexure disease_ontology DOID:12191 splenic flexure cancer DOID:12191 ICD10CM:C18.7 ICD9CM:153.3 MESH:D012811 SNOMEDCT_US_2023_03_01:94006002 UMLS_CUI:C0153436 Ca sigmoid colon malignant tumor of sigmoid colon disease_ontology DOID:12192 sigmoid colon cancer DOID:12192 ICD10CM:H16.10 ICD9CM:370.20 SNOMEDCT_US_2023_03_01:27019000 UMLS_CUI:C0155074 disease_ontology DOID:12196 superficial keratitis DOID:12196 ICD10CM:H16.14 ICD9CM:370.21 SNOMEDCT_US_2023_03_01:193767008 UMLS_CUI:C0259799 Punctate keratitis Thygeson superficial punctate keratitis Thygeson's superficial punctate keratitis disease_ontology DOID:12197 punctate epithelial keratoconjunctivitis DOID:12197 A cancer by anatomical entitiy that affects the organs in the abdominal cavity. abdomen neoplasm disease_ontology DOID:122 obsolete abdominal cancer true DOID:122 Catatonic schizophrenia in remission (disorder) Catatonic type schizophrenia, in remission disease_ontology DOID:12204 obsolete catatonic schizophrenia in remission true DOID:12204 A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding. DOID:0050142 GARD:6254 ICD10CM:A90 ICD9CM:061 MESH:D003715 NCI:C34528 SNOMEDCT_US_2023_03_01:38362002 UMLS_CUI:C0011311 Dengue Fever breakbone fever classic dengue disease_ontology classical dengue DOID:12205 dengue disease DOID:12205 A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding. url:https://www.cdc.gov/dengue/about/index.html url:https://www.merriam-webster.com/dictionary/dengue#medicalDictionary url:https://www.ncbi.nlm.nih.gov/books/NBK430732/ A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified. ICD10CM:A91 MESH:D019595 NCI:C34683 SNOMEDCT_US_2023_03_01:20927009 UMLS_CUI:C0019100 DHF disease_ontology Dengue haemorrhagic fever DOID:12206 dengue hemorrhagic fever DOID:12206 A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC88892/pdf/cm000480.pdf url:http://www.nlm.nih.gov/MEDLINEPLUS/ency/article/001373.htm url:https://www.merriam-webster.com/medical/dengue%20hemorrhagic%20fever DHF A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung. disease_ontology DOID:1221 obsolete infiltrative lung tuberculosis true DOID:1221 A pulmonary tuberculosis that is characterized by filling of airspaces with fluid, inflammatory exudates (pus, proteins and immunological substances) or cells (malignant cells and red blood cells) in a region of the lung. url:http://www.aic.cuhk.edu.hk/web8/Very%20BASIC%20CXR%20lungs.htm A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis. Bancroftian filariasis Infection by Wuchereria bancrofti (disorder) Infection due to Wuchereria bancrofti Wuchereria bancrofti infectious disease disease_ontology DOID:12210 obsolete Wuchereria bancrofti filariasis true DOID:12210 A filarial elephantiasis that involves parasitic infection of the lymphatic system by a filarial worm Wuchereria bancrofti, which is transmitted by mosquitoes. The symptoms include lymphedema, fever, chills, skin infections, painful lymph nodes, orchitis and epididymitis. url:http://en.wikipedia.org/wiki/Wuchereria_bancrofti A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis. DOID:13433 MESH:D004605 NCI:C128360 SNOMEDCT_US_2023_03_01:240820001 UMLS_CUI:C0013884 Bancroftian elephantiasis Bancroftian filarial chyluria Lymphatic filariasis elephantiasis of eyelid disease_ontology DOID:12211 filarial elephantiasis DOID:12211 A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis. url:https://www.cdc.gov/parasites/lymphaticfilariasis/index.html url:https://www.who.int/news-room/fact-sheets/detail/lymphatic-filariasis A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. DOID:12595 DOID:12596 ICD10CM:O41.0 ICD9CM:658.0 MESH:D016104 NCI:C92839 SNOMEDCT_US_2023_03_01:157051001 UMLS_CUI:C0079924 Oligohydramnios - delivered antepartum oligohydramnios delivered oligohydramnios disease_ontology DOID:12215 oligohydramnios DOID:12215 A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. url:http://www.merriam-webster.com/medlineplus/oligohydramnios A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies. GARD:3243 ICD10CM:G31.83 ICD9CM:331.82 MESH:D020961 MIM:127750 NCI:C84826 SNOMEDCT_US_2023_03_01:192808003 UMLS_CUI:C0752347 Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type disease_ontology DOID:12217 OMIM mapping confirmed by DO. [SN]. Lewy body dementia DOID:12217 A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies. url:http://en.wikipedia.org/wiki/Dementia_with_Lewy_bodies url:http://www.mayoclinic.org/diseases-conditions/lewy-body-dementia/basics/definition/CON-20025038 A connective tissue disease that is located_in cartilage. ICD10CM:M94.9 MESH:D002357 SNOMEDCT_US_2023_03_01:50927007 UMLS_CUI:C0007302 Cartilage disorder Chondropathy disease_ontology DOID:1222 cartilage disease DOID:1222 A connective tissue disease that is located_in cartilage. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146013/ Synovial, tendon or bursa disorder NOS (disorder) Unspecified disorder of synovium, tendon, and bursa disease_ontology DOID:12221 obsolete Synovial, tendon or bursa disorder true DOID:12221 ICD9CM:727.2 SNOMEDCT_US_2023_03_01:42812006 UMLS_CUI:C0158332 Specific bursitides often of occupational origin disease_ontology DOID:12223 specific bursitis often of occupational origin DOID:12223 disease_ontology DOID:12224 obsolete calcium deposits in tendon and bursa true DOID:12224 ICD10CM:M67.5 ICD9CM:727.83 MESH:D013585 UMLS_CUI:C0878705 disease_ontology DOID:12225 Plica syndrome DOID:12225 Auditory dysfunction (disorder) Hearing disorder Hearing disorder (finding) Hearing problem (finding) disorder of auditory system (disorder) hearing disorder disease_ontology DOID:12226 obsolete hearing disease true DOID:12226 secondary malignant neoplasm of large intestine and rectum (disorder) secondary malignant neoplasm of large intestine or rectum NOS (disorder) disease_ontology DOID:12228 obsolete secondary malignant neoplasm of large intestine and rectum true DOID:12228 ICD10CM:K31.2 ICD9CM:537.6 SNOMEDCT_US_2023_03_01:54051005 UMLS_CUI:C0267183 Hourglass stricture or stenosis of stomach disease_ontology DOID:12234 cascade stomach DOID:12234 A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. DOID:1851 EFO:0004267 GARD:7459 ICD10CM:K74.3 ICD10CM:K74.5 ICD9CM:571.6 MESH:D008105 MIM:PS109720 NCI:C27167 NCI:C51225 ORDO:186 SNOMEDCT_US_2023_03_01:1761006 SNOMEDCT_US_2023_03_01:31712002 UMLS_CUI:C0008312 UMLS_CUI:C0023892 biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis primary biliary cirrhosis disease_ontology DOID:12236 Xref MGI. OMIM mapping confirmed by DO. [SN]. primary biliary cholangitis DOID:12236 A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. url:http://en.wikipedia.org/wiki/Primary_biliary_cirrhosis url:http://www.merckmanuals.com/professional/hepatic_and_biliary_disorders/fibrosis_and_cirrhosis/primary_biliary_cirrhosis_pbc.html?qt=primary%20biliary%20cirrhosis&alt=sh url:https://www.mayoclinic.org/diseases-conditions/primary-biliary-cholangitis-pbc/symptoms-causes/syc-20376874 A biliary tract disease characterized by the flow of bile up into the stomach and/or esophagus. MESH:D001655 UMLS_CUI:C0005403 disease_ontology DOID:12237 bile reflux DOID:12237 A biliary tract disease characterized by the flow of bile up into the stomach and/or esophagus. url:https://en.wikipedia.org/wiki/Biliary_reflux url:https://www.mayoclinic.org/diseases-conditions/bile-reflux/symptoms-causes/syc-20370115 ICD10CM:C44.520 NCI:C6925 SNOMEDCT_US_2023_03_01:255084004 UMLS_CUI:C1412037 Perianal skin squamous cell carcinoma disease_ontology DOID:12239 anal margin squamous cell carcinoma DOID:12239 A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. GARD:871 ICD10CM:D56.1 ICD9CM:282.44 MESH:D017086 MIM:613985 NCI:C34375 ORDO:848 SNOMEDCT_US_2023_03_01:65959000 UMLS_CUI:C0005283 disease_ontology DOID:12241 Xref MGI. OMIM mapping confirmed by DO. [SN]. beta thalassemia MESH:D017086 DOID:12241 A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. url:http://en.wikipedia.org/wiki/Beta_thalassemia url:https://ghr.nlm.nih.gov/condition/beta-thalassemia url:https://pubmed.ncbi.nlm.nih.gov/31030806/ url:https://www.ncbi.nlm.nih.gov/books/NBK1426/ url:https://www.ncbi.nlm.nih.gov/pubmed/10395635 A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. Histoplasma capsulatum endocarditis Histoplasma capsulatum with endocarditis (disorder) Histoplasmosis with endocarditis (disorder) disease_ontology DOID:12245 obsolete histoplasmosis endocarditis true DOID:12245 A histoplasmosis endocarditis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii or has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. url:http://emedicine.medscape.com/article/299054-overview ICD9CM:115.91 SNOMEDCT_US_2023_03_01:187057005 UMLS_CUI:C0153277 Histoplasmosis with meningitis disease_ontology DOID:12246 histoplasmosis meningitis DOID:12246 Aldosterone deficiency (disorder) hypoaldosteronism disease_ontology DOID:12251 obsolete hypoaldosteronism true DOID:12251 An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland. disease_ontology DOID:12252 obsolete Cushing's syndrome true DOID:12252 An adrenal gland hyperfunction that is caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland. url:http://www.britannica.com/EBchecked/topic/147320/Cushing-syndrome NCI:C6810 SNOMEDCT_US_2023_03_01:277664004 UMLS_CUI:C0349644 lymphoma of the testis malignant lymphoma of testis disease_ontology DOID:12253 testicular lymphoma DOID:12253 metastatic neoplasm to the testis secondary malignant neoplasm of testis (disorder) disease_ontology DOID:12254 obsolete metastatic tumor to the testis true DOID:12254 Congenital Adrenal hyperplasia Congenital adrenal hyperplasia (disorder) Congenital adrenal hyperplasia, NOS congenital adrenal hyperplasia disease_ontology DOID:12255 obsolete congenital adrenal hyperplasia true DOID:12255 disease_ontology DOID:12256 obsolete adrenogenital disease true DOID:12256 ICD10CM:E27.5 ICD9CM:255.6 SNOMEDCT_US_2023_03_01:111565003 UMLS_CUI:C0154206 disease_ontology DOID:12257 medulloadrenal hyperfunction DOID:12257 acquired factor IX deficiency disease (disorder) disease_ontology DOID:12258 obsolete acquired factor IX deficiency true DOID:12258 A hemophilia that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. GARD:8732 ICD10CM:D67 ICD9CM:286.1 MESH:D002836 MIM:306900 NCI:C26721 SNOMEDCT_US_2023_03_01:41788008 UMLS_CUI:C0008533 Congenital factor IX deficiency Congenital factor IX disorder deficiency, functional factor IX factor IX deficiency disease_ontology DOID:12259 OMIM mapping confirmed by DO. [SN]. hemophilia B DOID:12259 A hemophilia that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. url:http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm ICD10CM:N70.1 ICD9CM:614.1 SNOMEDCT_US_2023_03_01:198142001 UMLS_CUI:C0156328 chronic salpingitis and oophoritis chronic salpingitis/oophoritis disease_ontology DOID:12265 chronic salpingo-oophoritis DOID:12265 disease_ontology DOID:12268 obsolete eclampsia with delivery true DOID:12268 disease_ontology DOID:12269 obsolete Toxemia with convulsions complicating pregnancy, childbirth or the puerperium true DOID:12269 ICD10CM:D70 ICD9CM:288.0 MESH:D009503 SNOMEDCT_US_2023_03_01:191336001 UMLS_CUI:C0027947 disease_ontology DOID:1227 neutropenia DOID:1227 An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. GARD:1433 ICD10CM:Q13.0 MESH:D003103 MIM:120200 MIM:120300 MIM:216820 NCI:C98877 ORDO:194 ORDO:98945 SNOMEDCT_US_2023_03_01:93390002 UMLS_CUI:C0009363 coloboma of eye coloboma of macula congenital ocular coloboma disease_ontology DOID:12270 Xref MGI. OMIM mapping confirmed by DO. [SN]. coloboma DOID:12270 An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. url:http://en.wikipedia.org/wiki/Coloboma url:http://ghr.nlm.nih.gov/condition/coloboma An iris disease that is characterized by a complete or partial absence of the colored part of the eye. GARD:5816 ICD10CM:Q13.1 ICD9CM:743.45 MESH:D015783 MIM:PS106210 NCI:C84563 ORDO:250923 SNOMEDCT_US_2023_03_01:69278003 UMLS_CUI:C0003076 Aplasia of iris isolated aniridia disease_ontology DOID:12271 aniridia GARD:5816 ICD10CM:Q13.1 ICD9CM:743.45 MESH:D015783 MIM:PS106210 NCI:C84563 ORDO:250923 UMLS_CUI:C0003076 DOID:12271 An iris disease that is characterized by a complete or partial absence of the colored part of the eye. url:https://medlineplus.gov/genetics/condition/aniridia/ ICD10CM:H52.31 ICD9CM:367.31 MESH:D015858 SNOMEDCT_US_2023_03_01:3289004 UMLS_CUI:C0003081 disease_ontology DOID:12273 anisometropia MESH:D015858 DOID:12273 Anisometropia and aniseikonia (disorder) Anisometropia or aniseikonia NOS (disorder) disease_ontology DOID:12274 obsolete anisometropia and aniseikonia true DOID:12274 A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin. ICD10CM:A36.3 ICD9CM:032.85 NCI:C34544 SNOMEDCT_US_2023_03_01:18901009 UMLS_CUI:C0012555 disease_ontology DOID:12275 cutaneous diphtheria DOID:12275 A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin. url:http://en.wikipedia.org/wiki/Diphtheria url:http://www.merck.com/mmpe/sec14/ch172/ch172c.html url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A1746 ICD10CM:C62.0 ICD9CM:186.0 SNOMEDCT_US_2023_03_01:188219004 UMLS_CUI:C0153595 malignant neoplasm of retained testis malignant neoplasm of undescended testis malignant tumor of retained testis malignant tumour of retained testis malignant tumour of undescended testis disease_ontology DOID:12276 malignant tumor of undescended testis DOID:12276 disease_ontology DOID:1228 obsolete paranoid type schizophrenia in remission true DOID:1228 ICD10CM:I80.1 ICD9CM:451.11 SNOMEDCT_US_2023_03_01:195410000 UMLS_CUI:C0265066 Phlebitis and thrombophlebitis of femoral vein Thrombophlebitis of deep femoral vein Thrombophlebitis of the femoral vein disease_ontology DOID:12282 femoral vein thrombophlebitis DOID:12282 disease_ontology DOID:12284 obsolete maternal pyrexia in labor true DOID:12284 NCI:C9277 UMLS_CUI:C1336711 disease_ontology DOID:12286 testicular leukemia DOID:12286 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthonairovirus haemorrhagiae, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine. ICD10CM:A98.0 ICD9CM:065.0 MESH:D006479 NCI:C34682 SNOMEDCT_US_2023_03_01:43489008 UMLS_CUI:C0019099 CHF Congo virus Congo-Crimean Hemorrhagic Fever Crimean hemorrhagic fever disease_ontology DOID:12287 Crimean-Congo hemorrhagic fever DOID:12287 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthonairovirus haemorrhagiae, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/cchf.htm url:http://www.who.int/mediacentre/factsheets/fs208/en/ A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening. DOID:11238 DOID:1230 ICD10CM:F20.0 ICD9CM:295.3 ICD9CM:295.32 MESH:D012563 NCI:C35006 SNOMEDCT_US_2023_03_01:154865007 SNOMEDCT_US_2023_03_01:191553009 UMLS_CUI:C0036349 UMLS_CUI:C0270398 Paranoid type schizophrenia Paraphrenia - late Paraphrenic schizophrenia chronic paranoid schizophrenia paranoid type schizophrenia subchronic state disease_ontology DOID:1229 paranoid schizophrenia DOID:1229 A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening. url:http://en.wikipedia.org/wiki/Paranoid_schizophrenia url:http://www.nlm.nih.gov/medlineplus/ency/article/000936.htm disease_ontology DOID:12292 obsolete recurrent malignant endocervical neoplasm true DOID:12292 A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. ICD10CM:F32.89 ICD9CM:296.82 SNOMEDCT_US_2023_03_01:277538003 UMLS_CUI:C0154437 Atypical depression disease_ontology DOID:12294 atypical depressive disorder DOID:12294 A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. url:http://en.wikipedia.org/wiki/Mood_disorder An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. GARD:7862 ICD10CM:H20.82 ICD9CM:364.24 MESH:D014607 NCI:C85218 SNOMEDCT_US_2023_03_01:44923005 UMLS_CUI:C0042170 Harada's disease Vogt-Koyanagi syndrome uveomeningoencephalitic syndrome disease_ontology DOID:12297 Vogt-Koyanagi-Harada disease DOID:12297 An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. url:http://en.wikipedia.org/wiki/Vogt%E2%80%93Koyanagi%E2%80%93Harada_syndrome ls:IEDB ICD9CM:155.1 SNOMEDCT_US_2023_03_01:187777008 UMLS_CUI:C0546835 Ca intrahepatic bile ducts malignant neoplasm of intrahepatic bile ducts malignant neoplasm of intrahepatic biliary passages malignant neoplasm of intrahepatic gall duct disease_ontology DOID:12298 intrahepatic gall duct cancer DOID:12298 Naevus spilus Speckled lentiginous naevus nevus spilus (disorder) disease_ontology DOID:12301 obsolete speckled lentiginous nevus true DOID:12301 A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils. Faucial Diphtheria Faucial diphtheria Faucial diphtheria (disorder) disease_ontology DOID:12302 obsolete diphtheritic membranous angina true DOID:12302 A diphtheria that involves a bluish white membrane formation on the faucial pillars, uvula, soft palate and tonsils. url:http://www.nature.com/icb/journal/v17/n4/pdf/icb193934a.pdf url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2052735/pdf/brmedj03773-0009.pdf ICD10CM:H11.13 ICD9CM:372.55 SNOMEDCT_US_2023_03_01:267645009 UMLS_CUI:C0155163 disease_ontology DOID:12304 conjunctival pigmentation DOID:12304 ICD10CM:Q82.3 MESH:D007184 MIM:308300 NCI:C84787 SNOMEDCT_US_2023_03_01:205567005 UMLS_CUI:C0021171 Incontinentia pigmenti Incontinentia pigmenti syndrome disease_ontology DOID:12305 OMIM mapping confirmed by DO. [SN]. Bloch-Sulzberger syndrome DOID:12305 An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. EFO:0004208 GARD:10751 ICD10CM:L80 ICD9CM:709.01 MESH:D014820 MIM:193200 NCI:C26915 SNOMEDCT_US_2023_03_01:156437000 UMLS_CUI:C0042900 disease_ontology DOID:12306 OMIM mapping confirmed by DO. [LS]. vitiligo DOID:12306 An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. url:http://en.wikipedia.org/wiki/Vitiligo ls:IEDB ICD10CM:H18.01 ICD9CM:371.11 SNOMEDCT_US_2023_03_01:18377001 UMLS_CUI:C0155104 Anterior corneal pigmentations disease_ontology DOID:12307 anterior corneal pigmentation DOID:12307 A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. GARD:6289 ICD10CM:E80.6 MESH:D007566 MIM:237500 NCI:C34741 SNOMEDCT_US_2023_03_01:44553005 UMLS_CUI:C0022350 Dubin Johnson syndrome chronic idiopathic jaundice disease_ontology DOID:12308 OMIM mapping confirmed by DO. [SN]. Dubin-Johnson syndrome DOID:12308 A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. url:http://en.wikipedia.org/wiki/Dubin-Johnson_syndrome ICD10CM:D47.01 MESH:D014582 NCI:C3433 SNOMEDCT_US_2023_03_01:205566001 UMLS_CUI:C0042111 UP/MPCM disease_ontology DOID:12309 OMIM mapping confirmed by DO. [LS]. urticaria pigmentosa MESH:D014582 DOID:12309 UP/MPCM chronic Schizophrenia chronic schizophrenia (disorder) disease_ontology DOID:1231 Due to nomenclature revisions chronic schizophrenia has been replaced by schizophrenia. obsolete chronic schizophrenia true DOID:1231 ICD10CM:H18.06 ICD9CM:371.12 SNOMEDCT_US_2023_03_01:55031000 UMLS_CUI:C0155105 Stromal corneal pigmentations disease_ontology DOID:12311 stromal corneal pigmentation DOID:12311 An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea. ICD10CM:H18.53 ICD9CM:371.53 MESH:D003317 NCI:C34651 SNOMEDCT_US_2023_03_01:45283008 UMLS_CUI:C0018179 disease_ontology DOID:12318 granular corneal dystrophy DOID:12318 An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea. url:https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm disease_ontology DOID:1232 obsolete paranoid type schizophrenia subchronic state with acute exacerbation true DOID:1232 A chronic asthma that is characterized by chronic nonproductive cough without shortness of breath. ICD10CM:J45.991 ICD9CM:493.82 SNOMEDCT_US_2023_03_01:409663006 UMLS_CUI:C0694548 disease_ontology DOID:12323 cough variant asthma DOID:12323 A chronic asthma that is characterized by chronic nonproductive cough without shortness of breath. url:https://www.ncbi.nlm.nih.gov/pubmed/19272144 Trans-sexualism with homosexual history Transsexuality with homosexual history (disorder) disease_ontology DOID:12324 obsolete transsexuality with homosexual history true DOID:12324 ICD10CM:I27.1 ICD9CM:416.1 SNOMEDCT_US_2023_03_01:194886003 UMLS_CUI:C0152102 disease_ontology DOID:12325 kyphoscoliotic heart disease DOID:12325 ICD9CM:416.8 SNOMEDCT_US_2023_03_01:194887007 UMLS_CUI:C0155673 disease_ontology DOID:12326 chronic pulmonary heart disease DOID:12326 A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation. ICD10CM:E41 ICD9CM:261 MESH:D011502 SNOMEDCT_US_2023_03_01:154730001 UMLS_CUI:C0086588 Nutritional atrophy Nutritional marasmus disease_ontology DOID:12328 marasmus DOID:12328 A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation. url:https://www.jpedhc.org/article/S0891-5245(96)90071-1/pdf ICD10CM:F64.1 ICD9CM:302.3 MESH:D014190 NCI:C94359 SNOMEDCT_US_2023_03_01:472948001 UMLS_CUI:C0040774 Dual-role transvestism Fetishistic transvestism Transvestic fetishism cross dresser disease_ontology DOID:1233 transvestism DOID:1233 MESH:D006398 SNOMEDCT_US_2023_03_01:66259004 UMLS_CUI:C0018931 Hematocele male hematocele disease_ontology DOID:12332 hematocele of tunica vaginalis testis DOID:12332 ICD9CM:608.85 SNOMEDCT_US_2023_03_01:198064007 UMLS_CUI:C0156316 Stricture of male genital organs disease_ontology DOID:12333 male genital organ stricture DOID:12333 ICD10CM:N50.1 ICD9CM:608.83 SNOMEDCT_US_2023_03_01:198057005 UMLS_CUI:C0042374 vascular disorder of male genital organs disease_ontology DOID:12335 male genital organ vascular disease DOID:12335 ICD10CM:N46 ICD9CM:606 MESH:D007248 SNOMEDCT_US_2023_03_01:155924001 UMLS_CUI:C0021364 disease_ontology DOID:12336 male infertility DOID:12336 ICD10CM:I86.1 ICD9CM:456.4 MESH:D014646 SNOMEDCT_US_2023_03_01:195480007 UMLS_CUI:C0042341 Scrotal varices disease_ontology DOID:12337 varicocele DOID:12337 disease_ontology DOID:12338 obsolete redundant prepuce and phimosis true DOID:12338 NCI:C7353 UMLS_CUI:C1335779 disease_ontology DOID:12339 retroperitoneal lymphoma DOID:12339 A sexual health disorder that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as. DOID:10919 ICD10CM:F64.2 ICD9CM:302.50 ICD9CM:302.6 SNOMEDCT_US_2023_03_01:191782007 SNOMEDCT_US_2023_03_01:5095008 UMLS_CUI:C0040630 UMLS_CUI:C0236802 gender dysphoria gender identify disorder transsexualism disease_ontology DOID:1234 gender incongruence DOID:1234 A sexual health disorder that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as. url:http://www.nlm.nih.gov/medlineplus/ency/article/001527.htm A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space. NCI:C4832 SNOMEDCT_US_2023_03_01:307219002 UMLS_CUI:C0585129 disease_ontology DOID:12341 retroperitoneal sarcoma DOID:12341 A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space. url:http://en.wikipedia.org/wiki/Retroperitoneal_space url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1665230/ NCI:C7352 UMLS_CUI:C0948749 carcinoma of Retroperitoneum disease_ontology carcinoma of the retroperitoneum DOID:12342 retroperitoneum carcinoma DOID:12342 disease_ontology hyperkinetic heart disease DOID:12346 obsolete hyperkinetic heart syndrome true DOID:12346 An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. DOID:14708 GARD:1017 ICD10CM:Q78.0 ICD9CM:756.51 MESH:D010013 MIM:PS166200 NCI:C26837 ORDO:666 SNOMEDCT_US_2023_03_01:254109004 UMLS_CUI:C0029434 Lobstein's syndrome Osteopsathyrosis Vrolik's disease brittle bone disease disease_ontology Fragilitas ossium DOID:12347 Xref MGI. OMIM mapping confirmed by DO. [SN]. osteogenesis imperfecta DOID:12347 An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. url:http://en.wikipedia.org/wiki/Osteogenesis_imperfecta url:http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta url:http://orthoinfo.aaos.org/topic.cfm?topic=a00051 url:http://osteogenesisimperfecta.org/ url:http://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/ url:http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm ICD10CM:H44.44 ICD9CM:360.31 SNOMEDCT_US_2023_03_01:2251002 UMLS_CUI:C0154782 primary hypotony of eye disease_ontology DOID:12349 primary eye hypotony DOID:12349 ICD10CM:F65.0 ICD9CM:302.81 MESH:D005329 NCI:C94353 SNOMEDCT_US_2023_03_01:192513009 UMLS_CUI:C0015957 disease_ontology DOID:1235 fetishism DOID:1235 DOID:12350 ICD9CM:571.1 NCI:C34352 SNOMEDCT_US_2023_03_01:9953008 UMLS_CUI:C0001306 acute alcoholic hepatitis acute alcoholic liver disease disease_ontology DOID:12351 alcoholic hepatitis DOID:12351 ICD10CM:N41.3 ICD9CM:601.3 SNOMEDCT_US_2023_03_01:67685000 UMLS_CUI:C0156291 disease_ontology DOID:12355 prostatocystitis DOID:12355 disease_ontology DOID:12356 obsolete bacterial prostatitis true DOID:12356 A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur. ICD9CM:386.35 SNOMEDCT_US_2023_03_01:34243007 UMLS_CUI:C0155508 Epidemic vertigo disease_ontology DOID:12357 viral labyrinthitis DOID:12357 A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur. url:http://books.google.com/books?id=uCDyjzqAL3wC&pg=PA69&lpg#v=onepage&q=&f=false A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. GARD:10812 ICD10CM:H69.0 ICD9CM:381.7 SNOMEDCT_US_2023_03_01:30280005 UMLS_CUI:C0155434 disease_ontology DOID:12358 patulous eustachian tube DOID:12358 A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. url:http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA53&lpg#v=onepage&q=&f=false ICD9CM:376.2 SNOMEDCT_US_2023_03_01:53061005 UMLS_CUI:C0155264 disease_ontology DOID:12359 endocrine exophthalmos DOID:12359 ICD10CM:H05.21 ICD9CM:376.36 SNOMEDCT_US_2023_03_01:48747004 UMLS_CUI:C0155272 Lateral displacement of globe disease_ontology DOID:12360 lateral displacement of eye DOID:12360 An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. EFO:0004237 ICD10CM:E05.0 MESH:D006111 MIM:275000 NCI:C3071 SNOMEDCT_US_2023_03_01:154655004 UMLS_CUI:C0018213 Grave's disease Graves disease exophthalmic goiter disease_ontology Basedow's disease DOID:12361 Xref MGI. OMIM mapping confirmed by DO. [SN]. Graves' disease DOID:12361 An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. url:http://en.wikipedia.org/wiki/Graves_disease ICD9CM:376.21 SNOMEDCT_US_2023_03_01:19885005 UMLS_CUI:C0155265 disease_ontology DOID:12362 thyrotoxic exophthalmos DOID:12362 ICD10CM:H05.25 ICD9CM:376.34 SNOMEDCT_US_2023_03_01:49774006 UMLS_CUI:C0155270 Intermittent exophthalmos disease_ontology DOID:12363 intermittent proptosis DOID:12363 ICD10CM:H05.26 ICD9CM:376.35 SNOMEDCT_US_2023_03_01:2284002 UMLS_CUI:C0155271 disease_ontology DOID:12364 pulsating exophthalmos DOID:12364 A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. DOID:12552 EFO:0001068 GARD:6961 ICD10CM:B54 ICD9CM:084 MESH:D008288 NCI:C34797 ORDO:673 SNOMEDCT_US_2023_03_01:154374002 UMLS_CUI:C0024530 induced malaria disease_ontology DOID:12365 Xref MGI. malaria DOID:12365 A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. url:http://en.wikipedia.org/wiki/Malaria url:https://www.merriam-webster.com/dictionary/malaria#medicalDictionary A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening. ICD10CM:N81.0 ICD9CM:618.03 SNOMEDCT_US_2023_03_01:12068006 UMLS_CUI:C0238502 Urethrocele disease_ontology DOID:12369 prolapse of urethra DOID:12369 A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening. url:https://en.wikipedia.org/wiki/Urethrocele ICD10CM:H18.4 ICD9CM:371.4 SNOMEDCT_US_2023_03_01:111521006 UMLS_CUI:C0155118 disease_ontology DOID:1237 corneal degeneration DOID:1237 A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses. ICD10CM:J18.0 ICD9CM:485 MESH:D001996 NCI:C26710 SNOMEDCT_US_2023_03_01:155551009 UMLS_CUI:C0006285 Chest infection - bronchopneumonia bronchial pneumonia lobular pneumonia disease_ontology DOID:12375 bronchopneumonia DOID:12375 A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses. url:https://www.merriam-webster.com/dictionary/bronchopneumonia#medicalDictionary A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13. DOID:13161 ICD9CM:335.11 MESH:D014897 MIM:253400 NCI:C118847 SNOMEDCT_US_2023_03_01:54280009 UMLS_CUI:C0152109 Kugelberg-Welander disease SMA3 Spinal Muscular Atrophy Type 3 Type III Spinal Muscular Atrophy disease_ontology DOID:12376 OMIM mapping confirmed by DO. [SN]. juvenile spinal muscular atrophy DOID:12376 A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13. url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy SMA3 A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. GARD:7674 ICD10CM:G12.9 ICD9CM:335.1 MESH:D009134 NCI:C85075 SNOMEDCT_US_2023_03_01:5262007 UMLS_CUI:C0026847 disease_ontology DOID:12377 spinal muscular atrophy DOID:12377 A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. url:http://en.wikipedia.org/wiki/Spinal_muscular_atrophy url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy url:https://www.genome.gov/Genetic-Disorders/Spinal-Muscular-Atrophy url:https://www.ncbi.nlm.nih.gov/pubmed/26022173 disease_ontology DOID:12378 obsolete predominant psychomotor disturbance true DOID:12378 disease_ontology DOID:12379 obsolete mixed disorder as reaction to stress true DOID:12379 disease_ontology DOID:1238 obsolete acute erythremia and erythroleukemia in remission true DOID:1238 disease_ontology DOID:12380 obsolete predominant disturbance of consciousness true DOID:12380 MESH:D017029 SNOMEDCT_US_2023_03_01:307358009 UMLS_CUI:C0085417 Complex partial epileptic seizure epilepsy, psychomotor psychomotor epilepsy disease_ontology DOID:12382 complex partial epilepsy DOID:12382 An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood. ICD9CM:009.2 MESH:D004403 SNOMEDCT_US_2023_03_01:154268000 UMLS_CUI:C0013369 Infectious diarrhea disease_ontology DOID:12384 dysentery DOID:12384 An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea url:http://en.wikipedia.org/wiki/Dysentery url:http://www.who.int/topics/dysentery/en/ url:https://www.merriam-webster.com/dictionary/dysentery#medicalDictionary A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces. DOID:11378 DOID:12950 DOID:2041 DOID:924 DOID:925 GARD:4818 ICD10CM:A03 ICD10CM:A03.0 ICD10CM:A03.1 ICD10CM:A03.2 ICD9CM:004 ICD9CM:004.0 ICD9CM:004.1 ICD9CM:004.2 KEGG:05131 MESH:D004405 NCI:C157978 SNOMEDCT_US_2023_03_01:111817006 SNOMEDCT_US_2023_03_01:34335000 SNOMEDCT_US_2023_03_01:55760004 SNOMEDCT_US_2023_03_01:66301008 UMLS_CUI:C0013371 UMLS_CUI:C0302358 UMLS_CUI:C0302359 UMLS_CUI:C0302360 Shigella boydii infectious disease Shigella flexneri infectious disease Shigella gastroenteritis Shigella sonnei infectious disease bacillary dysentery disease_ontology DOID:12385 shigellosis DOID:12385 A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces. url:http://www.merck.com/mmpe/sec14/ch173/ch173q.html?qt=shigellosis&alt=sh A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath. GARD:809 ICD10CM:A07.0 ICD9CM:007.0 MESH:D001447 NCI:C84583 SNOMEDCT_US_2023_03_01:57725006 UMLS_CUI:C0004692 disease_ontology DOID:12386 balantidiasis MESH:D001447 DOID:12386 A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath. url:https://www.ncbi.nlm.nih.gov/pubmed/14760781 A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). GARD:7178 ICD10CM:N25.1 ICD9CM:588.1 MESH:D018500 NCI:C84919 ORDO:223 SNOMEDCT_US_2023_03_01:123294004 UMLS_CUI:C0162283 disease_ontology vasopressin-resistant diabetes insipidus DOID:12387 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. nephrogenic diabetes insipidus DOID:12387 A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). url:http://en.wikipedia.org/wiki/Nephrogenic_diabetes_insipidus url:http://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus url:https://medlineplus.gov/ency/article/000511.htm A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13. MESH:D020790 MIM:125700 NCI:C84933 ORDO:30925 SNOMEDCT_US_2023_03_01:267393007 UMLS_CUI:C0687720 Pituitary diabetes insipidus Vasopressin deficiency vasopressin defective diabetes insipidus disease_ontology DOID:12388 OMIM mapping confirmed by DO. [SN]. neurohypophyseal diabetes insipidus DOID:12388 A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13. url:https://pubmed.ncbi.nlm.nih.gov/15070970/ disease_ontology DOID:1239 obsolete acute erythremia and erythroleukemia true DOID:1239 Leukemic reticuloendotheliosis involving lymph nodes of head, face, and neck Leukemic reticuloendotheliosis of lymph nodes of head, face and neck (disorder) Leukemic reticuloendotheliosis of lymph nodes of head, face and/or neck (disorder) disease_ontology DOID:12392 obsolete leukemic reticuloendotheliosis involving lymph nodes of head, face and neck true DOID:12392 ICD9CM:374.03 SNOMEDCT_US_2023_03_01:20828000 UMLS_CUI:C0155190 disease_ontology DOID:12395 spastic entropion DOID:12395 Entropion and trichiasis of eyelid (disorder) Entropion or trichiasis of eyelid NOS (disorder) disease_ontology DOID:12396 obsolete entropion and trichiasis of eyelid true DOID:12396 DOID:14446 ICD9CM:374.00 MESH:D004774 SNOMEDCT_US_2023_03_01:246821008 UMLS_CUI:C0014390 disease_ontology DOID:12397 entropion DOID:12397 An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. ICD10CM:F63.0 ICD9CM:312.31 MESH:D005715 MIM:606349 NCI:C94335 SNOMEDCT_US_2023_03_01:18085000 UMLS_CUI:C0030662 Compulsive gambling disease_ontology DOID:12399 OMIM mapping confirmed by DO. [SN]. pathological gambling DOID:12399 An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004711/ A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. DOID:9145 ICD10CM:C95.90 ICD9CM:208 ICDO:9800/3 MESH:D007938 NCI:C3161 SNOMEDCT_US_2023_03_01:255049003 UMLS_CUI:C0023418 disease_ontology DOID:1240 leukemia DOID:1240 A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. url:http://en.wikipedia.org/wiki/Leukemia url:http://www.cancer.gov/dictionary?CdrID=45343 An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen. ICD10CM:F63.2 ICD9CM:312.32 MESH:D007174 NCI:C94333 SNOMEDCT_US_2023_03_01:69361009 UMLS_CUI:C0022734 Pathological stealing disease_ontology DOID:12400 kleptomania DOID:12400 An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen. url:https://en.wikipedia.org/wiki/Kleptomania An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. DOID:9404 ICD10CM:F60.3 ICD10CM:F63.81 ICD9CM:301.3 ICD9CM:312.34 MESH:D007174 NCI:C94332 SNOMEDCT_US_2023_03_01:192096007 SNOMEDCT_US_2023_03_01:268757006 UMLS_CUI:C0021776 UMLS_CUI:C0152183 explosive personality disorder disease_ontology DOID:12401 intermittent explosive disorder DOID:12401 An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. url:https://en.wikipedia.org/wiki/Intermittent_explosive_disorder An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive. ICD10CM:F63.1 ICD9CM:312.33 MESH:D005391 NCI:C94334 SNOMEDCT_US_2023_03_01:600009 UMLS_CUI:C0016142 Pathological firesetting firesetting behavior disease_ontology DOID:12402 pyromania DOID:12402 An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive. url:https://en.wikipedia.org/wiki/Pyromania A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot. ICD10CM:B35.3 ICD9CM:110.4 MESH:D014008 SNOMEDCT_US_2023_03_01:186993002 UMLS_CUI:C0040259 Athlete's foot Dermatophytosis of foot disease_ontology ringworm of foot DOID:12403 tinea pedis DOID:12403 A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot. url:https://www.merriam-webster.com/dictionary/athlete%27s%20foot#medicalDictionary A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin. Dermatophytosis-tinea/ringworm Microsporic tinea, NOS ringworm disease_ontology DOID:12404 obsolete tinea true DOID:12404 A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair, and located_in nail, has_material_basis_in Epidermophyton, has_material_basis_in Microsporum, or has_material_basis_in Trichophyton, which invade the dead keratin and has_symptom itchy patches, and has_symptom red rash on the skin. url:http://emedicine.medscape.com/article/787217-overview ICD10CM:H44.82 ICD9CM:360.81 SNOMEDCT_US_2023_03_01:20842008 UMLS_CUI:C0154806 Luxation of eye disease_ontology DOID:1241 luxation of globe DOID:1241 Psychogenic dysmenorrhea Psychogenic dysmenorrhea (finding) Psychogenic dysmenorrhoea disease_ontology DOID:12417 obsolete psychogenic dysmenorrhea true DOID:12417 An eye disease that involves the globe of the eye. ICD10CM:H44.39 ICD9CM:360.29 SNOMEDCT_US_2023_03_01:194638007 UMLS_CUI:C0154780 disease_ontology DOID:1242 globe disease DOID:1242 An eye disease that involves the globe of the eye. url:https://en.wikipedia.org/wiki/Globe_(human_eye) ICD9CM:246.0 SNOMEDCT_US_2023_03_01:190303007 UMLS_CUI:C0701822 disorder of thyrocalcitonin secretion disease_ontology DOID:12424 thyrocalcitonin secretion disease DOID:12424 A vulva cancer that is located_in the labium minora. ICD10CM:C51.1 ICD9CM:184.2 NCI:C7637 SNOMEDCT_US_2023_03_01:93851005 UMLS_CUI:C0496815 malignant neoplasm of labia minora malignant neoplasm of labium minus malignant tumor of Labia Minora disease_ontology DOID:1243 labia minora cancer DOID:1243 A vulva cancer that is located_in the labium minora. url:https://www.ncbi.nlm.nih.gov/pubmed/13103721 url:https://www.ncbi.nlm.nih.gov/pubmed/24113413 ICD9CM:378.81 SNOMEDCT_US_2023_03_01:1534008 UMLS_CUI:C0702143 Palsy of conjugate gaze disease_ontology DOID:12445 conjugate gaze palsy DOID:12445 disease_ontology DOID:12448 obsolete hematologic pregnancy complication true DOID:12448 A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. GARD:5836 ICD10CM:D61.9 ICD9CM:284.9 MESH:D000741 MIM:609135 NCI:C2870 SNOMEDCT_US_2023_03_01:154807001 UMLS_CUI:C0002874 disease_ontology DOID:12449 OMIM mapping confirmed by DO. [SN]. aplastic anemia DOID:12449 A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. url:http://en.wikipedia.org/wiki/Aplastic_anemia url:http://www.nhlbi.nih.gov/health/health-topics/topics/aplastic/ A female reproductive organ cancer that is located_in the vulva. DOID:1282 GARD:9349 ICD10CM:C51 ICD9CM:184.4 MESH:D014846 NCI:C3443 NCI:C7502 SNOMEDCT_US_2023_03_01:126922007 SNOMEDCT_US_2023_03_01:94143002 UMLS_CUI:C0042995 UMLS_CUI:C0375071 Ca vulva Vulvar tumor malignant Vulvar tumor malignant neoplasm of vulva malignant tumor of vulva neoplasm of vulva vulval cancer vulval neoplasm vulvar neoplasm disease_ontology DOID:1245 vulva cancer DOID:1245 A female reproductive organ cancer that is located_in the vulva. url:https://en.wikipedia.org/wiki/Vulvar_cancer An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets. ICD10CM:D61.81 ICD9CM:284.1 MESH:D010198 NCI:C34889 SNOMEDCT_US_2023_03_01:127034005 UMLS_CUI:C0030312 disease_ontology DOID:12450 pancytopenia MESH:D010198 DOID:12450 An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets. url:https://en.wikipedia.org/wiki/Pancytopenia MESH:D013436 SNOMEDCT_US_2023_03_01:32117000 UMLS_CUI:C0038732 disease_ontology DOID:12451 sulfhemoglobinemia DOID:12451 ICD10CM:N25.81 ICD9CM:588.81 SNOMEDCT_US_2023_03_01:19034001 UMLS_CUI:C0271847 hyperparathyroidism due to renal insufficiency disease_ontology DOID:12465 secondary hyperparathyroidism of renal origin DOID:12465 MESH:D006962 NCI:C113335 SNOMEDCT_US_2023_03_01:91478007 UMLS_CUI:C0020503 disease_ontology DOID:12466 secondary hyperparathyroidism DOID:12466 A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding. DOID:13997 DOID:2212 DOID:9474 ICD10CM:D68.9 ICD9CM:286 MESH:D001778 NCI:C2902 SNOMEDCT_US_2023_03_01:64779008 UMLS_CUI:C0005779 coagulation protein disease postpartum coagulation defect postpartum coagulation defect with delivery inherited blood coagulation disease disease_ontology DOID:1247 blood coagulation disease DOID:1247 A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding. url:https://www.cedars-sinai.edu/Patients/Health-Conditions/Coagulation-System-Disorders.aspx A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species. ICD10CM:B81.1 ICD9CM:127.5 MESH:D017189 SNOMEDCT_US_2023_03_01:52979002 UMLS_CUI:C0006897 Capillaria infection disease_ontology DOID:12474 capillariasis DOID:12474 A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species. url:https://en.wikipedia.org/wiki/Capillariasis ICD9CM:726.61 UMLS_CUI:C0158314 disease_ontology DOID:12475 pes anserinus tendinitis or bursitis DOID:12475 SNOMEDCT_US_2023_03_01:359610006 UMLS_CUI:C0155169 hyperEMIA eye hyperemia of conjunctiva disease_ontology DOID:1248 ocular hyperemia DOID:1248 Conjunctival vascular disorder and cysts (disorder) disease_ontology DOID:1249 obsolete Conjunctival vascular disorder and cysts true DOID:1249 ICD10CM:G52.2 ICD9CM:352.3 MESH:D020421 NCI:C27591 SNOMEDCT_US_2023_03_01:73765005 UMLS_CUI:C0152179 Vagus nerve disorder disorder of pneumogastric [10th] nerve disorder of vagal nerve disorder of vagus nerve disease_ontology DOID:12491 Vagus nerve disease DOID:12491 A vaginal benign neoplasm that is a benign tumor of smooth muscle cells. NCI:C6373 UMLS_CUI:C1336939 leiomyoma of vagina disease_ontology DOID:125 vagina leiomyoma DOID:125 A vaginal benign neoplasm that is a benign tumor of smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/25672089 A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve). GARD:5906 ICD10CM:G51.0 ICD9CM:351.0 MESH:D020330 SNOMEDCT_US_2023_03_01:193093009 UMLS_CUI:C0376175 Bell palsy Bell's (facial) palsy disease_ontology DOID:12506 Bell's palsy DOID:12506 A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve). url:http://en.wikipedia.org/wiki/Bell%27s_palsy disease_ontology DOID:12508 obsolete simple type schizophrenia chronic state with acute exacerbation true DOID:12508 An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling. ICD9CM:016.4 SNOMEDCT_US_2023_03_01:83652003 UMLS_CUI:C0152814 disease_ontology DOID:1251 tuberculous epididymitis DOID:1251 An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling. url:http://www.nature.com/aja/journal/v7/n3/abs/aja200560a.html An ischemia that is characterized by restriction in blood supply to the retina. ICD10CM:H35.82 ICD9CM:362.84 SNOMEDCT_US_2023_03_01:193427006 UMLS_CUI:C0162291 disease_ontology DOID:12510 retinal ischemia DOID:12510 An ischemia that is characterized by restriction in blood supply to the retina. url:http://www.med.umich.edu/1libr/Ophthalmology/Retina/RetinalIschemia.pdf url:https://en.wikipedia.org/wiki/Ocular_ischemic_syndrome MESH:D012167 NCI:C50732 SNOMEDCT_US_2023_03_01:40024006 UMLS_CUI:C0035321 Retinal break Retinal dialysis Retinal tear disease_ontology DOID:12514 retinal perforation DOID:12514 A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation. GARD:10720 MESH:D014257 NCI:C128399 SNOMEDCT_US_2023_03_01:60570001 UMLS_CUI:C0040954 Infection by Trichuris trichura Trichuriasis infection Whipworm disease trichuris trichiura infection disease_ontology DOID:1252 trichuriasis DOID:1252 A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation. url:http://en.wikipedia.org/wiki/Trichuriasis url:http://www.dpd.cdc.gov/dpdx/HTML/Trichuriasis.htm An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes. ICD10CM:J67.1 ICD9CM:495.1 MESH:D011009 NCI:C34409 SNOMEDCT_US_2023_03_01:67242002 UMLS_CUI:C0004681 sugar cane worker pneumonitis disease_ontology DOID:12522 bagassosis DOID:12522 An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes. url:http://www.merriam-webster.com/medical/bagassosis ICD10CM:G57.6 ICD9CM:355.6 SNOMEDCT_US_2023_03_01:193148004 UMLS_CUI:C0154752 Lesion of plantar nerve disease_ontology DOID:12524 plantar nerve lesion DOID:12524 Meralgia paraesthetica Meralgia paresthetica Meralgia paresthetica (disorder) disease_ontology DOID:12525 obsolete Lateral cutaneous femoral nerve of thigh compression or syndrome true DOID:12525 GARD:7733 ICD10CM:G57.5 ICD9CM:355.5 MESH:D013641 NCI:C85183 SNOMEDCT_US_2023_03_01:155077008 UMLS_CUI:C0039319 disease_ontology DOID:12526 tarsal tunnel syndrome DOID:12526 ICD10CM:G57.3 ICD9CM:355.3 SNOMEDCT_US_2023_03_01:399107008 UMLS_CUI:C0270909 disease_ontology DOID:12527 common peroneal nerve lesion DOID:12527 ICD10CM:G57.0 ICD9CM:355.0 MESH:D020426 SNOMEDCT_US_2023_03_01:52585001 UMLS_CUI:C0154748 disease_ontology DOID:12528 lesion of sciatic nerve DOID:12528 SNOMEDCT_US_2023_03_01:359842002 UMLS_CUI:C0154751 disease_ontology DOID:12529 tibial nerve palsy DOID:12529 A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands. enoplida infectious disease disease_ontology DOID:1253 obsolete Enoplea infectious disease true DOID:1253 A Nematoda infectious disease that involves infection by parasitic worms of the class Enoplea, characterized by no body annules, no elaborate amphids, and five or more esophageal glands. url:http://en.wikipedia.org/wiki/Enoplia url:http://plpnemweb.ucdavis.edu/NEMAPLEX/Taxadata/Enoplia.htm A hemophilia that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. GARD:7867 ICD10CM:D68.0 ICD9CM:286.4 MESH:D014842 NCI:C68677 SNOMEDCT_US_2023_03_01:11093006 UMLS_CUI:C0042974 vascular hemophilia vascular pseudohemophilia von Willebrand disease von Willebrand disorder von Willebrand's-Jurgens' disease von Willebrand-Jrgens disease disease_ontology DOID:12531 OMIM mapping confirmed by DO. [SN]. von Willebrand's disease DOID:12531 A hemophilia that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. url:http://en.wikipedia.org/wiki/Von_Willebrand_disease url:http://ghr.nlm.nih.gov/condition/von-willebrand-disease ICD9CM:724.71 SNOMEDCT_US_2023_03_01:202809009 UMLS_CUI:C0158295 Coccygeal hypermobility syndrome hypermobility of the coccyx disease_ontology DOID:12537 hypermobility of coccyx DOID:12537 venereal disease of pharynx due to Chlamydia trachomatis disease_ontology DOID:12538 obsolete Chlamydia trachomatis pharyngitis true DOID:12538 Chlamydial infection of anus and rectum (disorder) Venereal disease of the anus and rectum due to Chlamydia trachomatis disease_ontology DOID:12539 obsolete Chlamydia trachomatis proctitis true DOID:12539 A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia. ICD10CM:B81.2 ICD9CM:127.6 MESH:D014253 SNOMEDCT_US_2023_03_01:33710003 UMLS_CUI:C0040948 Infection by Trichostrongylus Infection by Trichostrongylus species Trichostrongyliasis disease_ontology DOID:1254 trichostrongylosis MESH:D014253 DOID:1254 A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia. url:http://www.dpd.cdc.gov/DPDx/HTML/Trichostrongylosis.htm disease_ontology DOID:12541 obsolete catatonic type schizophrenia subchronic state true DOID:12541 disease_ontology DOID:12542 obsolete catatonic type schizophrenia subchronic state with acute exacerbation true DOID:12542 disease_ontology DOID:12543 obsolete catatonic type schizophrenia chronic state with acute exacerbation true DOID:12543 ICD10CM:H73.82 ICD9CM:384.82 SNOMEDCT_US_2023_03_01:194323000 UMLS_CUI:C0155471 disease_ontology DOID:12546 atrophic nonflaccid tympanic membrane DOID:12546 A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. DOID:12547 MESH:D006506 NCI:C3096 SNOMEDCT_US_2023_03_01:40468003 UMLS_CUI:C0019159 Viral hepatitis, type A disease_ontology Viral hepatitis A DOID:12549 hepatitis A DOID:12549 A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. url:http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf url:https://www.cdc.gov/hepatitis-a/ url:https://www.ncbi.nlm.nih.gov/books/NBK459290/ A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea. MESH:D014252 UMLS_CUI:C0040947 disease_ontology DOID:1255 trichostrongyloidiasis DOID:1255 A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea. url:http://en.wikipedia.org/wiki/Strongylida ICD10CM:K72.91 MESH:D006501 SNOMEDCT_US_2023_03_01:197332007 UMLS_CUI:C0019147 Hepatocerebral intoxication disease_ontology DOID:12550 hepatic coma DOID:12550 Septicemia due to E. Coli (disorder) Septicemia due to escherichia coli Septicemia due to escherichia coli [E. coli] disease_ontology DOID:12551 obsolete Escherichia coli septicemia true DOID:12551 A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. GARD:6588 ICD10CM:D59.3 ICD9CM:283.11 MESH:D006463 NCI:C75545 ORDO:2134 SNOMEDCT_US_2023_03_01:123308008 UMLS_CUI:C0019061 haemolytic-uraemic syndrome hemolytic uremic syndrome disease_ontology DOID:12554 Xref MGI. hemolytic-uremic syndrome DOID:12554 A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. url:https://en.wikipedia.org/wiki/Hemolytic-uremic_syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1367/ url:https://www.ncbi.nlm.nih.gov/pubmed/15728781 disease_ontology DOID:12555 obsolete acute renal failure with lesion of renal cortical necrosis true DOID:12555 An acute kidney failure that is characterized by necrosis of epithelial tubule cells. ICD10CM:N17.0 MESH:D007683 NCI:C34749 SNOMEDCT_US_2023_03_01:23697004 UMLS_CUI:C0022672 ATN - acute tubular necrosis acute renal Failure with tubular necrosis acute renal failure with lesion of tubular necrosis acute tubular necrosis acute tubule necrosis disease_ontology DOID:12556 acute kidney tubular necrosis DOID:12556 An acute kidney failure that is characterized by necrosis of epithelial tubule cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1904420/ Duane retraction syndrome is a strabismus characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. ICD10CM:H50.81 ICD9CM:378.71 MESH:D004370 MIM:126800 NCI:C84678 ORDO:233 SNOMEDCT_US_2023_03_01:60318001 UMLS_CUI:C0013261 Duane's syndrome Stilling-Turk-Duane syndrome disease_ontology DOID:12557 OMIM mapping confirmed by DO. [SN]. Duane retraction syndrome DOID:12557 Duane retraction syndrome is a strabismus characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. url:https://www.genome.gov/Genetic-Disorders/Duane-Syndrome GARD:4503 ICD10CM:H49.4 ICD9CM:378.72 MESH:D017246 MIM:PS157640 SNOMEDCT_US_2023_03_01:194126004 UMLS_CUI:C0162674 progressive external ophthalmoplegia disease_ontology DOID:12558 chronic progressive external ophthalmoplegia DOID:12558 An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. ICD9CM:733.02 MIM:259750 SNOMEDCT_US_2023_03_01:3345002 UMLS_CUI:C0158447 Idiopathic osteoporosis juvenile osteoporosis disease_ontology DOID:12559 idiopathic juvenile osteoporosis DOID:12559 An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. url:http://www.niams.nih.gov/Health_Info/Bone/Bone_Health/Juvenile/juvenile_osteoporosis.asp#b url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=85193 A vulvar disease that is characterized by the presence of ulcers. ICD10CM:N77.0 ICD9CM:616.51 SNOMEDCT_US_2023_03_01:198230004 UMLS_CUI:C0156340 disease_ontology DOID:12566 ulceration of vulva DOID:12566 A vulvar disease that is characterized by the presence of ulcers. url:https://www.dermnetnz.org/topics/differential-diagnosis-of-vulval-ulcers/ A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. MESH:D060705 Mathematics disorder disorder of arithmetical skills disease_ontology DOID:12568 dyscalculia DOID:12568 A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. url:http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death. DOID:0050017 DOID:0050018 Cardiovascular Trypanosomiasis Chagas' cardiomyopathy Chagas' disease cardiomyopathy Chagas' disease with heart involvement Chagas' disease with heart involvement (disorder) acute chagas' disease with heart involvement chronic chagas' disease with heart involvement disease_ontology DOID:12569 obsolete Chagas cardiomyopathy true DOID:12569 A Chagas disease that involves deterioration of the function of the myocardium caused due to Trypanosoma cruzi infection, which leads to heart rhythm abnormalities and may result in sudden death. url:http://en.wikipedia.org/wiki/Chagas_disease DOID:1256 DOID:12946 DOID:2259 Transient hypertension of pregnancy, with delivery antepartum transient hypertension of pregnancy postpartum transient hypertension of pregnancy disease_ontology DOID:1257 obsolete Transient hypertension of pregnancy true DOID:1257 A phacogenic glaucoma that is characterized by acute onset of open-angle glaucoma secondary to a leaking mature or hypermature cataract and has_symptom chronic progressive vision loss with acute onset of pain, redness, and blurry vision. Phacolytic glaucomas are caused by direct obstruction of aqueous outflow pathways from leaking cataractous lens proteins. ICD9CM:365.51 SNOMEDCT_US_2023_03_01:32893002 UMLS_CUI:C0152137 disease_ontology DOID:12570 phacolytic glaucoma DOID:12570 A phacogenic glaucoma that is characterized by acute onset of open-angle glaucoma secondary to a leaking mature or hypermature cataract and has_symptom chronic progressive vision loss with acute onset of pain, redness, and blurry vision. Phacolytic glaucomas are caused by direct obstruction of aqueous outflow pathways from leaking cataractous lens proteins. url:https://pubmed.ncbi.nlm.nih.gov/30950286/ A glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and has_symptom progressive decreased vision, especially decreased peripheral vision. Phacogenic glaucoma can be caused by cataracts, trauma to the eye, or age-related damage that obstructs aqueous outflow, leading to inappropriately increased intraocular pressure and eventual optic nerve atrophy with associated vision loss. ICD9CM:365.59 SNOMEDCT_US_2023_03_01:84333006 UMLS_CUI:C0154959 disease_ontology DOID:12571 phacogenic glaucoma DOID:12571 A glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and has_symptom progressive decreased vision, especially decreased peripheral vision. Phacogenic glaucoma can be caused by cataracts, trauma to the eye, or age-related damage that obstructs aqueous outflow, leading to inappropriately increased intraocular pressure and eventual optic nerve atrophy with associated vision loss. url:https://eyewiki.aao.org/Lens_Induced_Glaucomas ICD10CM:P72.1 ICD9CM:775.3 NCI:C114906 SNOMEDCT_US_2023_03_01:13795004 UMLS_CUI:C0158983 disease_ontology DOID:12573 neonatal thyrotoxicosis DOID:12573 GARD:4457 MESH:D015866 NCI:C35111 SNOMEDCT_US_2023_03_01:46627006 UMLS_CUI:C0042167 Uveitis, posterior disease_ontology DOID:12574 posterior uveitis DOID:12574 MESH:D014524 NCI:C79804 SNOMEDCT_US_2023_03_01:95588004 UMLS_CUI:C0041972 Obstruction of urethra disease_ontology DOID:12577 urethral obstruction DOID:12577 A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat. GARD:6213 ICD10CM:Q93.4 ICD9CM:758.31 MESH:D003410 MIM:123450 NCI:C34518 SNOMEDCT_US_2023_03_01:70173007 UMLS_CUI:C0010314 5p deletion syndrome 5p partial monosomy syndrome chromosome 5 short arm deletion syndrome chromosome 5p deletion syndrome disease_ontology DOID:12580 OMIM mapping confirmed by DO. [SN]. Cri-Du-Chat syndrome DOID:12580 A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat. url:https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome url:https://www.genome.gov/Genetic-Disorders/Cri-du-Chat ICD10CM:M70.2 ICD9CM:726.33 SNOMEDCT_US_2023_03_01:425940002 UMLS_CUI:C0263962 Bursitis of elbow Bursitis of elbow region Capped elbow Elbow bursitis Miner's elbow Miners' elbow Shoe boil disease_ontology DOID:12581 olecranon bursitis DOID:12581 disease_ontology DOID:12582 obsolete enthesopathy of elbow true DOID:12582 A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. ICD10CM:Q93.81 ICD9CM:758.32 MESH:D004062 MIM:192430 SNOMEDCT_US_2023_03_01:205642004 UMLS_CUI:C0220704 Shprintzen syndrome VCF-Velocardiofacial syndrome disease_ontology DOID:12583 OMIM mapping confirmed by DO. [LS]. velocardiofacial syndrome DOID:12583 A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. url:https://www.genome.gov/Genetic-Disorders/Velocardiofacial-Syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/19243607 Diabetes mellitus during pregnancy - baby delivered (disorder) disease_ontology DOID:12584 obsolete Diabetes mellitus of mother, with delivery true DOID:12584 A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus. GARD:4462 ICD10CM:Q60.6 NCI:C40435 SNOMEDCT_US_2023_03_01:41962002 UMLS_CUI:C0178426 Potter sequence Potter syndrome disease_ontology DOID:12594 Potter's syndrome DOID:12594 A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus. url:http://en.wikipedia.org/wiki/Potter_Syndrome url:https://en.wikipedia.org/wiki/Potter_sequence url:https://rarediseases.info.nih.gov/diseases/4462/potter-syndrome MESH:D010249 SNOMEDCT_US_2023_03_01:280483007 UMLS_CUI:C0030455 pelvic cellulitis disease_ontology DOID:1260 parametritis DOID:1260 A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream. DOID:12621 ICD10CM:C95.00 ICD9CM:208.0 ICDO:9801/3 MIM:308960 NCI:C9300 SNOMEDCT_US_2023_03_01:24072005 UMLS_CUI:C0085669 UMLS_CUI:C1378511 Stem cell Leukemia Stem cell leukaemia disease_ontology DOID:12603 acute leukemia DOID:12603 A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream. url:http://en.wikipedia.org/wiki/Acute_leukemia url:http://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf url:http://www.merck.com/mmpe/sec11/ch142/ch142b.html secondary malignant neoplasm of adrenal gland secondary malignant neoplasm of adrenal gland (disorder) disease_ontology DOID:12604 obsolete secondary malignant neoplasm of suprarenal gland true DOID:12604 metastatic tumor to the Adrenals disease_ontology DOID:12605 obsolete metastasis to adrenals true DOID:12605 A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst. DOID:12607 Staphylococcus aureus pneumonia pneumonia due to staphylococcus aureus disease_ontology DOID:12608 obsolete staphylococcal pneumonia true DOID:12608 A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst. url:http://www.ncbi.nlm.nih.gov/sites/entrez/13542104 disease_ontology DOID:1261 obsolete AIDS-related pelvic inflammatory disease true DOID:1261 disease_ontology DOID:12610 obsolete adrenal hemorrhage of fetus or newborn true DOID:12610 disease_ontology DOID:12612 obsolete gastrointestinal hemorrhage of fetus or newborn true DOID:12612 An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene. Cervicofacial actinomycotic infection Lumpy jaw disease_ontology DOID:12633 obsolete cervicofacial actinomycosis true DOID:12633 An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene. url:http://emedicine.medscape.com/article/211587-overview url:http://www.scipub.org/fulltext/ajid/ajid43204-208.pdf An actinomycosis that involves invasion and infiltration located_in brain, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of brain abscess. disease_ontology DOID:12634 obsolete cerebral actinomycosis true DOID:12634 A prolapse of the female genital organ that is characterized by an isolated central defect and herniation of the posterior perineum in patients without diffuse vaginal prolapse. ICD10CM:N81.81 ICD9CM:618.05 UMLS_CUI:C1456251 disease_ontology DOID:12637 perineocele DOID:12637 A prolapse of the female genital organ that is characterized by an isolated central defect and herniation of the posterior perineum in patients without diffuse vaginal prolapse. url:https://www.ncbi.nlm.nih.gov/pubmed/16442600 A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. ICD10CM:Q40.0 ICD9CM:750.5 MESH:D046248 MIM:179010 MIM:300711 MIM:610260 MIM:612017 MIM:612525 NCI:C98952 SNOMEDCT_US_2023_03_01:48644003 UMLS_CUI:C0700639 congenital hypertrophic pyloric stenosis congenital or infantile stricture of pylorus disease_ontology DOID:12638 Xref MGI. hypertrophic pyloric stenosis DOID:12638 A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. url:http://en.wikipedia.org/wiki/Pyloric_stenosis ICD10CM:K31.1 MESH:D011707 NCI:C34966 SNOMEDCT_US_2023_03_01:367403001 UMLS_CUI:C0034194 disease_ontology DOID:12639 pyloric stenosis DOID:12639 ICD10CM:Q40.1 ICD9CM:750.6 SNOMEDCT_US_2023_03_01:47028006 UMLS_CUI:C0158674 Congenital hiatus hernia disease_ontology DOID:12641 displacement of cardia through esophageal hiatus DOID:12641 ICD10CM:K44 MESH:D006551 MIM:142400 NCI:C98945 SNOMEDCT_US_2023_03_01:236053002 SNOMEDCT_US_2023_03_01:3662000 SNOMEDCT_US_2023_03_01:84089009 UMLS_CUI:C0267725 UMLS_CUI:C0376710 UMLS_CUI:C3489393 Diaphragmatic - hiatus -hernia hiatal hernia disease_ontology DOID:12642 OMIM mapping confirmed by DO. [SN]. hiatus hernia DOID:12642 disease_ontology DOID:12647 obsolete Congenital or acquired abnormality of vulva, with delivery true DOID:12647 An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs. disease_ontology DOID:1265 obsolete genitourinary cancer true DOID:1265 An organ system cancer located_in the genitourinary system that is characterized by uncontrolled cellular proliferation in reproductive and urinary organs. url:http://en.wikipedia.org/wiki/Genitourinary_system url:http://en.wikipedia.org/wiki/Urogenital_neoplasm disease_ontology DOID:12651 obsolete disorder of optic chiasm associated with inflammatory disorder true DOID:12651 ICD10CM:H93.3 ICD9CM:388.5 MESH:D000160 NCI:C27207 SNOMEDCT_US_2023_03_01:77949003 UMLS_CUI:C0001163 acoustic nerve disease disease_ontology DOID:12657 vestibulocochlear nerve disease DOID:12657 GARD:701 ICD10CM:K03.5 ICD9CM:521.6 MESH:D020254 MIM:157950 SNOMEDCT_US_2023_03_01:14901003 UMLS_CUI:C0155930 Ankylosis of teeth Ankylosis of tooth disease_ontology DOID:12661 OMIM mapping confirmed by DO. [LS]. tooth ankylosis DOID:12661 A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis. GARD:7323 ICD10CM:B41 ICD9CM:116.1 MESH:D010229 NCI:C34891 SNOMEDCT_US_2023_03_01:59925007 UMLS_CUI:C0030409 Mucocutaneous-lymphangitic paracoccidioidomycosis paracoccidioidal mycosis disease_ontology DOID:12662 paracoccidioidomycosis DOID:12662 A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis. url:http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/ A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. DOID:13067 GARD:5931 ICD10CM:B40 ICD9CM:116.0 MESH:D001759 NCI:C34428 SNOMEDCT_US_2023_03_01:266217003 UMLS_CUI:C0005716 Blastomyces Dermatitidis Infection Blastomycotic infection Chicago disease Gilchrist's disease Infection by Blastomyces dermatitidis North American blastomycosis disease_ontology DOID:12663 blastomycosis DOID:12663 A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. url:http://en.wikipedia.org/wiki/Blastomycosis DOID:12671 ICD10CM:H53.30 ICD9CM:368.30 NCI:C34422 SNOMEDCT_US_2023_03_01:83275001 UMLS_CUI:C0005461 simultaneous visual perception without fusion disease_ontology DOID:12667 binocular vision disease DOID:12667 ICD10CM:H53.31 ICD9CM:368.34 SNOMEDCT_US_2023_03_01:79195003 UMLS_CUI:C0155010 disease_ontology DOID:12668 abnormal retinal correspondence DOID:12668 Fusion with defective stereopsis (disorder) disease_ontology DOID:12670 obsolete fusion with defective stereopsis true DOID:12670 ICD10CM:E83.52 ICD9CM:275.42 MESH:D006934 SNOMEDCT_US_2023_03_01:154752005 UMLS_CUI:C0020437 disease_ontology DOID:12678 hypercalcemia DOID:12678 GARD:7177 MESH:D009397 NCI:C84918 SNOMEDCT_US_2023_03_01:154752005 UMLS_CUI:C0027709 disease_ontology DOID:12679 nephrocalcinosis DOID:12679 A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts. ICD9CM:335.23 MESH:D020828 NCI:C129934 SNOMEDCT_US_2023_03_01:7379000 UMLS_CUI:C0033790 pseudobulbar paralysis disease_ontology DOID:12680 pseudobulbar palsy DOID:12680 A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts. url:https://en.wikipedia.org/wiki/Corticobulbar_tract url:https://en.wikipedia.org/wiki/Pseudobulbar_palsy A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent. ICD10CM:H81.2 ICD9CM:386.12 MESH:D020338 SNOMEDCT_US_2023_03_01:232293008 UMLS_CUI:C0751908 Epidemic neurolabyrinthitis Vestibular neuritis disease_ontology DOID:12683 vestibular neuronitis DOID:12683 A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent. url:http://en.wikipedia.org/wiki/Vestibular_neuritis url:https://www.ncbi.nlm.nih.gov/pubmed/16448876 A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe. ICD10CM:F80.2 ICD9CM:315.32 NCI:C92563 SNOMEDCT_US_2023_03_01:25766007 UMLS_CUI:C0236827 disease_ontology DOID:12685 mixed receptive-expressive language disorder DOID:12685 A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe. url:http://en.wikipedia.org/wiki/Mixed_receptive-expressive_language_disorder GARD:223 MESH:D009464 NCI:C3276 SNOMEDCT_US_2023_03_01:269643009 UMLS_CUI:C0027859 Vestibular Neurilemmoma Vestibular schwannoma disease_ontology DOID:12689 acoustic neuroma DOID:12689 tuberculosis of thyroid gland disease_ontology DOID:1269 obsolete thyroid gland tuberculosis true DOID:1269 DOID:12695 DOID:12696 hyperemesis gravidarum with metabolic disturbance - delivered (disorder) hyperemesis gravidarum with metabolic disturbance, antepartum hyperemesis gravidarum with metabolic disturbance, delivered disease_ontology DOID:12694 obsolete hyperemesis gravidarum with metabolic disturbance true DOID:12694 A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes. GARD:6919 ICD10CM:G83.5 ICD9CM:344.81 MESH:D000080422 SNOMEDCT_US_2023_03_01:38023001 UMLS_CUI:C0023944 Locked in syndrome Locked-in state disease_ontology DOID:12697 locked-in syndrome DOID:12697 A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes. url:http://rarediseases.org/rare-diseases/locked-in-syndrome/ A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels. ICD10CM:N62 MESH:D006177 NCI:C3073 SNOMEDCT_US_2023_03_01:155963008 UMLS_CUI:C0018418 disease_ontology DOID:12698 gynecomastia DOID:12698 A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels. url:https://my.clevelandclinic.org/health/diseases/16227-enlarged-male-breast-tissue-gynecomastia url:https://www.mayoclinic.org/diseases-conditions/gynecomastia/symptoms-causes/syc-20351793 A cell type benign neoplasm that is a benign tumor of smooth muscle cells. ICDO:8890/0 MESH:D007889 NCI:C3157 SNOMEDCT_US_2023_03_01:1162890002 UMLS_CUI:C0023267 leiomyomatous neoplasm leiomyomatous tumor disease_ontology DOID:127 leiomyoma DOID:127 A cell type benign neoplasm that is a benign tumor of smooth muscle cells. url:http://en.wikipedia.org/wiki/Cancer url:http://en.wikipedia.org/wiki/Leiomyoma A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. GARD:6626 ICD10CM:I78.0 ICD9CM:448.0 MESH:D013683 MIM:187300 MIM:600376 MIM:615506 NCI:C35064 ORDO:774 SNOMEDCT_US_2023_03_01:266324004 UMLS_CUI:C0039445 Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease disease_ontology DOID:1270 Xref MGI. OMIM mapping confirmed by DO. [SN]. hereditary hemorrhagic telangiectasia DOID:1270 A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. url:http://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia url:http://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia url:http://www.ncbi.nlm.nih.gov/books/NBK1351/ An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. DOID:12699 ICD10CM:E22.1 MESH:D002640 MESH:D006966 SNOMEDCT_US_2023_03_01:190468001 SNOMEDCT_US_2023_03_01:85039006 UMLS_CUI:C0008043 UMLS_CUI:C0020514 Chiari-Frommel syndrome Pregnancy-related A-G syndrome hyperprolactinaemia disease_ontology DOID:12700 hyperprolactinemia DOID:12700 An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. url:http://en.wikipedia.org/wiki/Hyperprolactinemia disease_ontology DOID:12702 obsolete Rotator cuff shoulder syndrome and allied disorder true DOID:12702 An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. GARD:5862 MESH:D001260 MIM:208900 NCI:C2887 SNOMEDCT_US_2023_03_01:68504005 UMLS_CUI:C0004135 Boder-Sedgwick syndrome Louis Bar syndrome disease_ontology DOID:12704 OMIM mapping confirmed by DO. [SN]. ataxia telangiectasia MESH:D001260 DOID:12704 An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. url:https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia DOID:0050555 GARD:6468 ICD10CM:G11.11 ICD9CM:334.0 MESH:D005621 NCI:C84718 SNOMEDCT_US_2023_03_01:155011003 UMLS_CUI:C0016719 Friedreich's ataxia Friedreich's tabes disease_ontology DOID:12705 Xref MGI. Friedreich ataxia MESH:D005621 DOID:12705 GARD:9256 MESH:D002527 MIM:213400 SNOMEDCT_US_2023_03_01:41009006 UMLS_CUI:C0007761 Dyssynergia cerebellaris myoclonica progressive cerebellar tremor disease_ontology DOID:12707 OMIM mapping confirmed by DO. [SN]. myoclonic cerebellar dyssynergia DOID:12707 A vascular disease that is located_in the capillaries. ICD10CM:I78 ICD9CM:448 SNOMEDCT_US_2023_03_01:58729003 UMLS_CUI:C0155765 disease of capillaries disease_ontology DOID:1271 capillary disease DOID:1271 A vascular disease that is located_in the capillaries. url:http://en.wikipedia.org/wiki/Capillary#Pathophysiology An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. pulmonary African histoplasmosis (disorder) disease_ontology DOID:12710 obsolete Histoplasma duboisii pneumonia true DOID:12710 An African histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. url:http://www.doctorfungus.org/Mycoses/human/histo/histoplamosis_d.htm url:http://www.jstor.org/stable/pdfplus/4547765.pdf url:http://www.springerlink.com/content/dl7677h135470438/fulltext.pdf A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair. ICD10CM:B36.3 ICD9CM:111.3 MESH:D010854 SNOMEDCT_US_2023_03_01:266218008 SNOMEDCT_US_2023_03_01:33666009 UMLS_CUI:C0031898 UMLS_CUI:C0153249 disease_ontology DOID:12711 Adding additional UMLS CUI. UMLS has piedra, black piedra and white piedra combined. DO has these as distinct diseases. black piedra DOID:12711 A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair. url:http://en.wikipedia.org/wiki/Black_piedra A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). GARD:206 ICD10CM:Q61.5 MIM:PS256100 NCI:C123200 ORDO:655 SNOMEDCT_US_2023_03_01:204958008 UMLS_CUI:C0687120 medullary cystic disease medullary cystic kidney disease_ontology DOID:12712 Xref MGI. OMIM mapping confirmed by DO. [SN]. nephronophthisis DOID:12712 A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/ Medullary Sponge kidney Medullary sponge kidney (disorder) Sponge kidney disease_ontology DOID:12713 obsolete medullary sponge kidney true DOID:12713 A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2. GARD:1301 ICD10CM:Q77.6 ICD9CM:756.55 MESH:D004613 MIM:225500 NCI:C84684 SNOMEDCT_US_2023_03_01:62501005 UMLS_CUI:C0013903 Chondroectodermal dysplasia mesoectodermal dysplasia disease_ontology DOID:12714 OMIM mapping confirmed by DO. [SN]. Ellis-Van Creveld syndrome DOID:12714 A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2. url:https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/10700184 Infective Myositis Infective myositis Infective myositis (disorder) disease_ontology DOID:12715 obsolete infectious myositis true DOID:12715 A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. DOID:11395 DOID:13859 ICD10CM:P22.0 MESH:D006819 MIM:267450 SNOMEDCT_US_2023_03_01:26168007 UMLS_CUI:C0020192 HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn disease_ontology DOID:12716 newborn respiratory distress syndrome DOID:12716 A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. url:https://www.merriam-webster.com/dictionary/respiratory%20distress%20syndrome#medicalDictionary A chronic salpingitis that is caused by gonorrhea. ICD9CM:098.37 SNOMEDCT_US_2023_03_01:53529004 UMLS_CUI:C0153208 Gonococcal salpingitis disease_ontology DOID:12718 chronic gonococcal salpingitis DOID:12718 A chronic salpingitis that is caused by gonorrhea. url:https://www.ncbi.nlm.nih.gov/pubmed/14846362 MESH:D013684 NCI:C28194 SNOMEDCT_US_2023_03_01:112641009 UMLS_CUI:C0039446 telangiectasia disease_ontology DOID:1272 telangiectasis DOID:1272 An atherosclerosis of the cerebral vasculature. ICD10CM:I67.2 ICD9CM:437.0 MESH:D002537 NCI:C34459 SNOMEDCT_US_2023_03_01:266258005 UMLS_CUI:C0007775 disease_ontology DOID:12720 cerebral atherosclerosis DOID:12720 An atherosclerosis of the cerebral vasculature. url:https://www.ncbi.nlm.nih.gov/books/NBK218744/ An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain. GARD:10756 ICD9CM:756.56 MESH:D010009 ORDO:251 SNOMEDCT_US_2023_03_01:59708000 UMLS_CUI:C0026760 polyepiphyseal dysplasia disease_ontology DOID:12721 Xref MGI. multiple epiphyseal dysplasia DOID:12721 An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain. url:http://en.wikipedia.org/wiki/Multiple_epiphyseal_dysplasia url:http://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia malignant neoplasm of liver, specified as secondary metastasis to liver metastatic tumor to the Liver secondary malignant neoplasm of liver (disorder) disease_ontology DOID:12722 obsolete liver metastasis true DOID:12722 disease_ontology DOID:12723 obsolete lung carcinoma metastatic to the liver true DOID:12723 disease_ontology DOID:12724 obsolete breast arcinoma metastatic to the liver true DOID:12724 DOID:12728 DOID:12729 DOID:12730 Retroverted and incarcerated gravid uterus, delivered Retroverted incarcerated gravid uterus - delivered Retroverted incarcerated gravid uterus - delivered (disorder) antepartum retroverted and incarcerated gravid uterus postpartum retroverted and incarcerated gravid uterus disease_ontology DOID:12727 obsolete retroverted incarcerated gravid uterus true DOID:12727 A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress. MESH:D018357 NCI:C3354 SNOMEDCT_US_2025_05_01:55735004 UMLS_CUI:C0035235 RSV respiratory syncytial virus disease_ontology DOID:1273 respiratory syncytial virus infectious disease MESH:D018357 NCI:C3354 UMLS_CUI:C0035235 DOID:1273 ICD10CM:B97.4 ICD10CM:J12.1 ICD10CM:J20.5 ICD10CM:J21.0 ICD9CM:079.6 ICD9CM:466.11 ICD9CM:480.1 A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress. url:https://medlineplus.gov/respiratorysyncytialvirusinfections.html url:https://www.lung.org/lung-health-diseases/lung-disease-lookup/rsv url:https://www.merckmanuals.com/professional/pediatrics/respiratory-disorders-in-young-children/respiratory-syncytial-virus-rsv-and-human-metapneumovirus-infections RSV GARD:7339 ICD10CM:H30.2 ICD9CM:363.21 MESH:D015868 MIM:606177 NCI:C34903 SNOMEDCT_US_2023_03_01:193452008 UMLS_CUI:C0030593 Posterior cyclitis disease_ontology DOID:12731 OMIM mapping confirmed by DO. [SN]. pars planitis DOID:12731 MESH:D015867 NCI:C35110 SNOMEDCT_US_2023_03_01:314429009 UMLS_CUI:C0042166 chronic cyclitis peripheral uveoretinitis disease_ontology DOID:12732 intermediate uveitis DOID:12732 ICD10CM:K03.4 ICD9CM:521.5 MESH:D006936 SNOMEDCT_US_2023_03_01:78537008 UMLS_CUI:C0020441 Cementation hyperplasia disease_ontology DOID:12733 hypercementosis DOID:12733 A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abdominal wall. ICD10CM:N83.4 ICD9CM:620.4 UMLS_CUI:C0495094 disease_ontology DOID:12735 hernia of ovary and fallopian tube DOID:12735 A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abdominal wall. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3327571/ A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways. disease_ontology DOID:12739 obsolete bronchial tuberculosis true DOID:12739 A pulmonary tuberculosis which involves inflammation of bronchi resulting in irregular circumferential bronchial wall thickening that leads to narrowed or even obstructed airways. url:http://books.google.com/books?id=zOiDtdtyOQEC&pg=PA494&lpg#v=onepage&q=&f=false A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions. disease_ontology DOID:1275 obsolete Pneumovirus infectious disease true DOID:1275 A Paramyxoviridae infectious disease that results_in infection in cattle and humans, has_material_basis_in Pneumovirus, which is transmitted_by contact with the respiratory secretions. url:http://expasy.org/viralzone/all_by_species/90.html A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue. GARD:9528 ICD10CM:A07.4 ICD9CM:007.5 MESH:D021866 SNOMEDCT_US_2023_03_01:240372001 UMLS_CUI:C0343398 disease_ontology DOID:12750 cyclosporiasis DOID:12750 A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue. url:https://www.cdc.gov/parasites/cyclosporiasis/index.html ICD10CM:H18.72 ICD9CM:371.73 SNOMEDCT_US_2023_03_01:193849005 UMLS_CUI:C0152440 disease_ontology DOID:12753 corneal staphyloma DOID:12753 ICD9CM:190.7 NCI:C3567 SNOMEDCT_US_2023_03_01:93852003 UMLS_CUI:C0153631 malignant neoplasm of lacrimal duct malignant tumor of lacrimal duct disease_ontology DOID:12756 lacrimal duct cancer DOID:12756 malignant neoplasm of eyeball excluding conjunctiva, cornea, retina and choroid (disorder) malignant neoplasm of eyeball, except conjunctiva, cornea, retina, and choroid disease_ontology DOID:12758 obsolete malignant neoplasm of eyeball, except conjunctiva, cornea, retina and choroid true DOID:12758 DOID:12760 ICD10CM:C69.3 ICD9CM:190.6 MESH:D002830 NCI:C2949 NCI:C3566 SNOMEDCT_US_2023_03_01:127001008 SNOMEDCT_US_2023_03_01:93755007 UMLS_CUI:C0008523 UMLS_CUI:C0153630 Choroidal tumor choroid neoplasm malignant tumor of choroid malignant tumor of the Choroid neoplasm of choroid disease_ontology DOID:12759 choroid cancer DOID:12759 A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet. Kaposi's sarcoma Classical type disease_ontology DOID:12763 obsolete classic Kaposi's sarcoma true DOID:12763 A Kaposi's sarcoma that located_in older men of Italian or Eastern European Jewish origin. Kaposi's sarcoma results_in slow-growing lesions on the legs and feet. url:http://www.cancer.gov/cancertopics/pdq/treatment/kaposis/Patient/page2 A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as 'hot potato voice' may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common. Peritonsillar abscess Peritonsillar abscess (disorder) Quinsy disease_ontology DOID:12765 obsolete peritonsillar abscess true DOID:12765 A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as 'hot potato voice' may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common. url:http://en.wikipedia.org/wiki/Peritonsillar_abscess A Kaposi's sarcoma that is located_in black Africans. disease_ontology DOID:12773 obsolete endemic African Kaposi's sarcoma true DOID:12773 A Kaposi's sarcoma that is located_in black Africans. url:http://www.ingentaconnect.com/content/bsc/ced/2001/00000026/00000003/art00009 url:http://www.wrongdiagnosis.com/k/kaposi_sarcoma_endemic_african_form/intro.htm A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes. recurrent Multiple Hemorrhagic sarcoma disease_ontology DOID:12779 obsolete recurrent Kaposi's sarcoma true DOID:12779 A Kaposi's sarcoma that derives_from the tissue that lines the lymph vessels under the skin or in mucous membranes. url:http://www.yourcancertoday.com/Cancers/Sarcoma-Kaposi-s/116 GARD:7777 MESH:D020333 NCI:C85193 SNOMEDCT_US_2023_03_01:75111000 UMLS_CUI:C0040381 disease_ontology DOID:1278 tolosa-hunt syndrome DOID:1278 ICD9CM:374.14 SNOMEDCT_US_2023_03_01:28914006 UMLS_CUI:C0155196 disease_ontology DOID:12782 cicatricial ectropion DOID:12782 A migraine that is characterized by migraine headaches that are not accompanied by an aura. ICD10CM:G43.0 ICD9CM:346.1 MESH:D020326 MIM:607501 NCI:C117004 SNOMEDCT_US_2023_03_01:56097005 UMLS_CUI:C0338480 common migraine disease_ontology DOID:12783 Xref MGI. migraine without aura DOID:12783 A migraine that is characterized by migraine headaches that are not accompanied by an aura. url:http://en.wikipedia.org/wiki/Migraine Diabetes mellitus juvenile type, not stated as uncontrolled, with neurological manifestations Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with neurological manifestations disease_ontology DOID:12784 obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with neurological manifestations true DOID:12784 ICD9CM:357.2 MESH:D003929 SNOMEDCT_US_2023_03_01:49455004 UMLS_CUI:C0271680 Diabetes mellitus with polyneuropathy Polyneuropathy in diabetes disease_ontology DOID:12785 diabetic polyneuropathy DOID:12785 GARD:7061 GARD:7237 ICD9CM:378.9 MESH:D015835 SNOMEDCT_US_2023_03_01:45030009 UMLS_CUI:C0028850 disorder of eye movements eye movement disorder disease_ontology DOID:1279 ocular motility disease DOID:1279 Posterior synechiae (disorder) Posterior synechiae of iris disease_ontology DOID:12796 obsolete Posterior synechiae true DOID:12796 A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. ICD10CM:F16.1 ICD9CM:305.3 SNOMEDCT_US_2023_03_01:74851005 UMLS_CUI:C0018526 disease_ontology DOID:12797 hallucinogen abuse DOID:12797 A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. url:http://en.wikipedia.org/wiki/Hallucinogen A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. DOID:14716 GARD:7065 ICD10CM:E76.3 ICD9CM:277.5 MESH:D009083 MIM:PS607014 NCI:C61259 ORDO:79213 SNOMEDCT_US_2023_03_01:267452003 UMLS_CUI:C0026703 disease_ontology DOID:12798 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. mucopolysaccharidosis DOID:12798 A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis url:https://www.merriam-webster.com/medical/mucopolysaccharidosis#medicalDictionary A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. GARD:6675 ICD10CM:E76.1 MESH:D016532 MIM:309900 NCI:C61260 SNOMEDCT_US_2023_03_01:190936000 UMLS_CUI:C0026705 Hunter syndrome Hunter's syndrome MPS II - Hunter syndrome Mucopolysaccharidosis, MPS-II deficiency of iduronate-2-sulphatase disease_ontology DOID:12799 OMIM mapping submitted by NeuroDevNet. [LS]. mucopolysaccharidosis II DOID:12799 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. url:http://en.wikipedia.org/wiki/Hunter_syndrome disease_ontology DOID:128 obsolete vaginal soft tissue tumor true DOID:128 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. GARD:7095 MESH:D009087 MIM:253200 NCI:C61264 SNOMEDCT_US_2023_03_01:69463008 UMLS_CUI:C0026709 MPS VI - Maroteaux-Lamy syndrome Maroteaux - Lamy syndrome Maroteaux-Lamy syndrome arylsulfatase B deficiency deficiency of N-acetylgalactosamine-4-sulfatase disease_ontology DOID:12800 OMIM mapping confirmed by DO. [SN]. mucopolysaccharidosis VI DOID:12800 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. url:http://en.wikipedia.org/wiki/Maroteaux-Lamy_syndrome A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. DOID:14729 DOID:14788 MESH:D009084 MIM:252940 NCI:C61262 ORDO:581 SNOMEDCT_US_2023_03_01:190936000 UMLS_CUI:C0026706 Mucopolysaccharidosis, MPS-III N-sulphoglucosamine sulphohydrolase deficiency Sanfilippo's syndrome heparan sulfate sulfatase deficiency naglu deficiency disease_ontology DOID:12801 OMIM mapping confirmed by DO. [SN]. mucopolysaccharidosis III DOID:12801 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. url:http://en.wikipedia.org/wiki/Sanfilippo_syndrome A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. GARD:10335 ICD10CM:E76.0 MESH:D008059 NCI:C85053 SNOMEDCT_US_2023_03_01:267453008 UMLS_CUI:C0023786 Hurler syndrome Hurler-Scheie syndrome Lipochondrodystrophy MPS I - Hurler syndrome Mucopolysaccharidosis, MPS-I Mucopolysaccharidosis, type 1 iduronidase deficiency disease disease_ontology DOID:12802 mucopolysaccharidosis I DOID:12802 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. ICD10CM:E76.29 MESH:D016538 MIM:253220 NCI:C84903 SNOMEDCT_US_2023_03_01:43916004 UMLS_CUI:C0085132 MPS VII - Sly syndrome Sly syndrome beta-glucuronidase deficiency deficiency of beta-glucuronidase mucopolysaccharidosis VII disease_ontology DOID:12803 OMIM mapping confirmed by DO. [SN]. mucopolysaccharidosis type VII DOID:12803 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis_VII url:https://www.ncbi.nlm.nih.gov/books/NBK598990/ A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. DOID:0050808 DOID:14767 ICD10CM:E76.219 MESH:D009085 NCI:C61263 SNOMEDCT_US_2023_03_01:378007 UMLS_CUI:C0026707 Mucopolysaccharidosis, MPS-IV deficiency of N-acetylgalactosamine-6-sulphatase deficiency of chondroitinsulphatase galactosamine-6-sulfatase deficiency Osteochondrodystrophy chondroosteodystrophy disease_ontology DOID:12804 OMIM mapping confirmed by DO. [SN]. mucopolysaccharidosis IV DOID:12804 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. url:http://en.wikipedia.org/wiki/Morquio_syndrome ICD10CM:H04.03 ICD9CM:375.03 SNOMEDCT_US_2023_03_01:4839005 UMLS_CUI:C1300133 chronic enlargement of lacrimal gland disease_ontology DOID:12809 chronic lacrimal gland enlargement DOID:12809 A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain. intestinal infectious disease due to clostridium difficile disease_ontology DOID:12819 obsolete Clostridium difficile intestinal infectious disease true DOID:12819 A commensal bacterial infectious disease that involves infection of the intestine by the bacterium Clostridium difficile, which causes diarrhea, pseudomembranous colitis, toxic megacolon, intestinal perforation and sepsis. The symptoms include fever, loss of appetite, nausea and abdominal pain. url:http://www.cdc.gov/ncidod/dhqp/pdf/infDis/Cdiff_CCJM02_06.pdf A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall. ICD10CM:K46 ICD9CM:618.6 MESH:D006547 SNOMEDCT_US_2023_03_01:47671001 UMLS_CUI:C0205792 vaginal enterocele disease_ontology DOID:1283 enterocele DOID:1283 A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall. url:https://www.ncbi.nlm.nih.gov/pubmed/8202302 ICD10CM:G82.5 ICD9CM:344.00 MESH:D011782 NCI:C50721 SNOMEDCT_US_2023_03_01:11538006 UMLS_CUI:C0034372 tetraplegia disease_ontology DOID:12835 quadriplegia DOID:12835 ICD9CM:374.01 SNOMEDCT_US_2023_03_01:55408009 UMLS_CUI:C0155188 Involutional entropion disease_ontology DOID:12836 senile entropion DOID:12836 MESH:D013958 NCI:C112836 SNOMEDCT_US_2023_03_01:190262002 UMLS_CUI:C0040127 Thyrotoxic crisis disease_ontology DOID:12837 thyroid crisis DOID:12837 disease_ontology DOID:12838 obsolete secondary thyroid hyperplasia true DOID:12838 DOID:12943 DOID:12944 Thyrotoxicosis from ectopic thyroid nodule NOS (disorder) Thyrotoxicosis from ectopic thyroid nodule with crisis (disorder) Thyrotoxicosis from ectopic thyroid nodule with mention of thyrotoxic crisis or storm Thyrotoxicosis from ectopic thyroid nodule with no crisis (disorder) Thyrotoxicosis from ectopic thyroid nodule without mention of thyrotoxic crisis or storm hyperthyroidism due to ectopic thyroid nodule (disorder) thyrotoxicosis from ectopic thyroid nodule with crisis thyrotoxicosis from ectopic thyroid nodule with no crisis disease_ontology DOID:12839 obsolete thyrotoxicosis from ectopic thyroid nodule true DOID:12839 A female reproductive system disease that is characterized by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening. ICD9CM:618.8 UMLS_CUI:C0029801 disease_ontology DOID:1284 prolapse of female genital organ DOID:1284 A female reproductive system disease that is characterized by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening. url:https://www.aafp.org/afp/2010/0501/p1111.html An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine. Ancylostomiasis due to Ancylostoma ceylonicum (disorder) Ancylostomiasis due to ancylostoma ceylanicum disease_ontology DOID:12840 obsolete Ancylostoma ceylanicum ancylostomiasis true DOID:12840 An ancylostomiasis that involves parasitic infection of animals and humans by Ancylostoma ceylanicum larvae, which invade percutaneously and migrate to the intestine. url:http://emedicine.medscape.com/article/996361-overview A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition. GARD:9742 ICD10CM:B76.0 MESH:D000724 NCI:C35805 SNOMEDCT_US_2023_03_01:85807000 UMLS_CUI:C0002831 disease_ontology DOID:12841 ancylostomiasis MESH:D000724 DOID:12841 A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition. url:http://en.wikipedia.org/wiki/Ancylostomiasis An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. GARD:6554 ICD10CM:G61.0 MESH:D020275 MIM:139393 NCI:C116345 SNOMEDCT_US_2023_03_01:155082001 UMLS_CUI:C0018378 Infectious neuronitis Post-infectious polyneuritis Postinfectious polyneuritis acute infective polyneuritis acute inflammatory demyelinating polyradiculopathy acute postinfectious polyneuropathy disease_ontology DOID:12842 OMIM mapping confirmed by DO. [SN]. Guillain-Barre syndrome DOID:12842 An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. url:http://www.ninds.nih.gov/disorders/gbs/gbs.htm Polyneuritis (disorder) multiple peripheral neuritis polyneuritis disease_ontology DOID:12843 obsolete polyneuritis true DOID:12843 An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. EFO:0003758 ICD10CM:F84.0 ICD9CM:299.0 MESH:D001321 MIM:209850 NCI:C97161 ORDO:106 SNOMEDCT_US_2023_03_01:38763009 UMLS_CUI:C0004352 Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism disease_ontology DOID:12849 Xref MGI. OMIM mapping confirmed by DO. [SN]. autistic disorder DOID:12849 An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. url:http://en.wikipedia.org/wiki/Autism url:http://www.neurodevnet.ca MESH:D012002 SNOMEDCT_US_2023_03_01:5964004 UMLS_CUI:C0034882 disease_ontology DOID:1285 rectal disease DOID:1285 disease_ontology DOID:12852 obsolete adhesions of drum head to incus true DOID:12852 disease_ontology DOID:12853 obsolete adhesions of drum head to promontorium true DOID:12853 disease_ontology DOID:12854 obsolete adhesions of drum head to stapes true DOID:12854 ICD10CM:M76.6 SNOMEDCT_US_2023_03_01:202879008 UMLS_CUI:C0149846 Achilles bursitis or tendinitis Capped hock Haglund's deformity Haglund's disease disease_ontology DOID:12857 Achilles bursitis DOID:12857 A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. GARD:6677 ICD10CM:G10 ICD9CM:333.4 KEGG:05016 MESH:D006816 MIM:143100 NCI:C82342 SNOMEDCT_US_2023_03_01:58756001 UMLS_CUI:C0020179 HD Huntington disease Huntington's chorea disease_ontology DOID:12858 Huntington's disease DOID:12858 A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. url:http://en.wikipedia.org/wiki/Huntington_disease url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=118&Disease_Disease_Search_diseaseGroup=huntington&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Huntington-disease&title=Huntington-disease&search=Disease_Search_Simple HD A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. ICD10CM:G25.5 MIM:118700 MIM:215450 ORDO:1429 chorea hereditary chorea disease_ontology DOID:12859 Xref MGI. choreatic disease DOID:12859 A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. url:http://en.wikipedia.org/wiki/Chorea url:http://www.ncbi.nlm.nih.gov/mesh?term=Choreatic%20Disorders Non-neoplastic nevus Non-neoplastic nevus (disorder) Non-neoplastic nevus NOS (disorder) Non-neoplastic nevus of skin (disorder) Non-neoplastic nevus of skin (disorder) [Ambiguous] nevus, non-neoplastic disease_ontology DOID:12860 obsolete non-neoplastic nevus of skin true DOID:12860 Senile naevus Senile nevus Senile nevus (disorder) disease_ontology DOID:12863 obsolete senile nevus true DOID:12863 Acrosyringeal nevus Acrosyringeal nevus (disorder) disease_ontology DOID:12864 obsolete acrosyringeal nevus true DOID:12864 A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. DOID:73 ICD9CM:429.2 MESH:D002318 NCI:C2931 SNOMEDCT_US_2023_03_01:266275004 UMLS_CUI:C0007222 disease of subdivision of hemolymphoid system disease_ontology DOID:1287 cardiovascular system disease DOID:1287 A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. url:http://en.wikipedia.org/wiki/Circulatory_system Exudative cyst of pars plana Exudative cyst of pars plana (disorder) disease_ontology DOID:12879 obsolete Pars plana exudative cyst true DOID:12879 Idiopathic urticaria (disorder) disease_ontology DOID:12881 obsolete idiopathic urticaria true DOID:12881 A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness. ICD10CM:F45.21 ICD9CM:300.7 MESH:D006998 NCI:C9493 SNOMEDCT_US_2023_03_01:18193002 UMLS_CUI:C0020604 Hypochondria Hypochondriacal disorder hypochondriacal neurosis disease_ontology DOID:12883 hypochondriasis DOID:12883 A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness. url:http://en.wikipedia.org/wiki/Hypochondriasis An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum. Ornithosis with pneumonia Ornithosis with pneumonia (disorder) louisiana pneumonia disease_ontology DOID:12888 obsolete Chlamydophila psittaci pneumonia true DOID:12888 An ornithosis involving Chlamydophila psittaci infection, contracted by inhaling dust from the feathers or the waste of infected birds. The symptoms include fever, chills, fatigue, and loss of appetite. A cough develops, which is initially dry but later brings up greenish sputum. url:http://en.wikipedia.org/wiki/Ornithosis url:http://www.merck.com/mmhe/sec04/ch042/ch042b.html#SB_42_03 A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. GARD:3668 ICD10CM:G61.0 MESH:D019846 NCI:C116958 SNOMEDCT_US_2023_03_01:1767005 UMLS_CUI:C0393799 Fisher's syndrome Miller-Fisher variant of Guillain-Barre syndrome disease_ontology DOID:12889 Miller Fisher syndrome DOID:12889 A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. url:http://en.wikipedia.org/wiki/Miller_Fisher_syndrome#Classification A central nervous system disease that results in the progressive deterioration of function or structure of neurons. DOID:4874 ICD10CM:G31.9 MESH:D019636 NCI:C27090 SNOMEDCT_US_2023_03_01:362975008 UMLS_CUI:C0524851 UMLS_CUI:C1285162 degenerative disease disease_ontology DOID:1289 neurodegenerative disease DOID:1289 A central nervous system disease that results in the progressive deterioration of function or structure of neurons. url:http://en.wikipedia.org/wiki/Degenerative_disease url:http://en.wikipedia.org/wiki/Neurodegeneration An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. DOID:416 GARD:10252 ICD10CM:M35.0 ICD9CM:710.2 MESH:D012859 MIM:270150 NCI:C26883 NCI:C70647 SNOMEDCT_US_2023_03_01:267875002 SNOMEDCT_US_2023_03_01:83901003 UMLS_CUI:C0086981 UMLS_CUI:C1527336 Sicca syndrome Sjogren syndrome xerodermosteosis disease_ontology DOID:12894 OMIM mapping confirmed by DO. [LS]. Sjogren's syndrome DOID:12894 An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. url:http://en.wikipedia.org/wiki/Sj%C3%B6gren%27s_syndrome ls:IEDB GARD:8444 MESH:D007638 SNOMEDCT_US_2023_03_01:78946008 UMLS_CUI:C0022575 KCS disease_ontology DOID:12895 keratoconjunctivitis sicca DOID:12895 KCS MESH:D013364 UMLS_CUI:C0038557 disease_ontology DOID:12897 submandibular gland disease DOID:12897 ICD10CM:K11.8 NCI:C3949 SNOMEDCT_US_2023_03_01:45517002 UMLS_CUI:C0266995 Godwin tumor disease_ontology DOID:12899 benign lymphoepithelial lesion of salivary gland DOID:12899 An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection. GARD:7043 ICD10CM:K11.8 MESH:D008882 NCI:C34819 SNOMEDCT_US_2023_03_01:7826003 UMLS_CUI:C0026103 IgG4-related dacryoadenitis and sialadenitis Mikulicz's disease disease_ontology DOID:12900 Mikulicz disease DOID:12900 An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection. url:https://rarediseases.org/rare-diseases/mikulicz-syndrome/ ICD10CM:K11.8 MESH:D012797 SNOMEDCT_US_2023_03_01:109769000 UMLS_CUI:C0037033 disease_ontology DOID:12901 necrotizing sialometaplasia DOID:12901 ICD10CM:K11.6 ICD9CM:527.6 NCI:C27649 SNOMEDCT_US_2023_03_01:196508008 UMLS_CUI:C0026686 Mucous retention cyst of salivary gland Ranula Salivary Cyst Salivary gland mucocele disease_ontology DOID:12904 mucocele of salivary gland DOID:12904 ICD10CM:K11.5 ICD9CM:527.5 MESH:D015494 SNOMEDCT_US_2023_03_01:155656006 UMLS_CUI:C0036091 Salivary gland Stone Sialolith Stone of salivary gland or duct disease_ontology DOID:12905 sialolithiasis DOID:12905 Sickle cell-hemoglobin C disease with crisis (disorder) disease_ontology DOID:12910 obsolete sickle-cell/Hb-C disease with crisis true DOID:12910 ICD10CM:I73.1 ICD9CM:443.1 MESH:D013919 MIM:211480 NCI:C35070 SNOMEDCT_US_2023_03_01:195298008 UMLS_CUI:C0040021 Buerger's disease Presenile gangrene disease_ontology DOID:12918 OMIM mapping confirmed by DO. [LS]. thromboangiitis obliterans DOID:12918 A malaria characterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously. ICD10CM:B53.0 ICD9CM:084.3 SNOMEDCT_US_2023_03_01:19341001 UMLS_CUI:C0152072 Malariaby Plasmodium ovale Ovale malaria disease_ontology DOID:12919 Plasmodium ovale malaria DOID:12919 A malaria characterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously. url:https://www.merriam-webster.com/medical/ovale%20malaria Schizophrenic syndrome of childhood NOS childhood Schizophrenia childhood schizophrenia childhood schizophrenia NOS childhood schizophrenia NOS (disorder) disease_ontology DOID:12921 obsolete childhood schizophrenia true DOID:12921 acute schizophrenic episode acute schizophrenic episode (disorder) acute schizophrenic episode, unspecified state disease_ontology DOID:12922 obsolete acute undifferentiated schizophrenia true DOID:12922 Unspecified schizophrenia, chronic state chronic undifferentiated schizophrenia (disorder) disease_ontology DOID:12923 obsolete chronic undifferentiated schizophrenia true DOID:12923 A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful. GARD:2883 MESH:D007000 UMLS_CUI:C0020607 disease_ontology DOID:12926 hypodermyiasis DOID:12926 A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful. url:http://en.wikipedia.org/wiki/Dermatobia_hominis url:http://en.wikipedia.org/wiki/Hypodermyiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage. MESH:D012610 UMLS_CUI:C0036465 disease_ontology DOID:12927 screw worm infectious disease DOID:12927 A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage. url:http://en.wikipedia.org/wiki/Chrysomya_bezziana url:http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm Nutritional and metabolic cardiomyopathies (disorder) Nutritional and metabolic cardiomyopathy NOS Nutritional and metabolic cardiomyopathy NOS (disorder) disease_ontology DOID:12928 obsolete nutritional cardiomyopathy true DOID:12928 An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. GARD:2121 GARD:6336 ICD10CM:I42.4 ICD9CM:425.3 MESH:D004695 MIM:226000 NCI:C98922 SNOMEDCT_US_2023_03_01:65457005 UMLS_CUI:C0014117 Elastomyofibrosis disease_ontology DOID:12929 OMIM mapping confirmed by DO. [SN]. endocardial fibroelastosis MESH:D004695 DOID:12929 An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. url:http://en.wikipedia.org/wiki/Endocardial_fibroelastosis url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/219/viewAbstract A vulva carcinoma that is located_in the labia minora. NCI:C9364 UMLS_CUI:C1334357 Labia Minora cancer disease_ontology carcinoma of labia minora DOID:1293 labia minora carcinoma DOID:1293 A vulva carcinoma that is located_in the labia minora. url:https://www.ncbi.nlm.nih.gov/pubmed/13733610 An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. EFO:0000407 GARD:221 ICD10CM:I42.0 KEGG:05414 MESH:D002311 MIM:PS115200 NCI:C84673 ORDO:217604 SNOMEDCT_US_2023_03_01:74368002 UMLS_CUI:C0007193 primary dilated cardiomyopathy disease_ontology Congestive cardiomyopathy Familial dilated cardiomyopathy Idiopathic dilation cardiomyopathy DOID:12930 Xref MGI. OMIM mapping confirmed by DO. [LS]. dilated cardiomyopathy DOID:12930 An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. url:http://en.wikipedia.org/wiki/Dilated_cardiomyopathy Familial dilated cardiomyopathy MESH:C536231 Idiopathic dilation cardiomyopathy MESH:C536277 GARD:6340 ICD9CM:425.0 MESH:D004719 NCI:C34585 SNOMEDCT_US_2023_03_01:111507009 UMLS_CUI:C0553980 African endomyocardial fibrosis Becker's disease Endomyocardial sclerosis obscure African cardiomyopathy disease_ontology DOID:12932 endomyocardial fibrosis DOID:12932 GARD:6817 ICD10CM:H49.81 MESH:D007625 MIM:530000 NCI:C84798 SNOMEDCT_US_2023_03_01:25792000 UMLS_CUI:C0022541 disease_ontology DOID:12934 OMIM mapping confirmed by DO. [SN]. Kearns-Sayre syndrome DOID:12934 ICD10CM:I42.6 ICD9CM:425.5 MESH:D002310 NCI:C53653 SNOMEDCT_US_2023_03_01:83521008 UMLS_CUI:C0007192 Alcohol-induced heart muscle disease Dilated cardiomyopathy secondary to alcohol disease_ontology DOID:12935 alcoholic cardiomyopathy DOID:12935 secondary cardiomyopathy (disorder) secondary cardiomyopathy NOS secondary cardiomyopathy NOS (disorder) secondary cardiomyopathy, unspecified disease_ontology DOID:12936 obsolete secondary cardiomyopathy true DOID:12936 A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C4866 UMLS_CUI:C0677055 Vulvar carcinoma disease_ontology carcinoma of vulva DOID:1294 vulva carcinoma DOID:1294 A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://www.cancer.gov/cancertopics/types/vulvar ICD10CM:H02.23 ICD9CM:374.21 MESH:D000092164 SNOMEDCT_US_2023_03_01:193938000 UMLS_CUI:C0155197 disease_ontology DOID:12958 paralytic lagophthalmos DOID:12958 ICD10CM:H02.2 ICD9CM:374.2 MESH:D000092164 SNOMEDCT_US_2023_03_01:193936001 UMLS_CUI:C0152226 disease_ontology DOID:12959 lagophthalmos DOID:12959 A synostosis that results_in craniosynostosis and syndactyly. DOID:0080004 ICD9CM:755.55 MESH:D000168 MIM:101200 NCI:C34348 SNOMEDCT_US_2023_03_01:63661009 UMLS_CUI:C1510455 Apert syndrome disease_ontology DOID:12960 OMIM mapping confirmed by DO. [SN]. acrocephalosyndactylia MESH:D000168 DOID:12960 A synostosis that results_in craniosynostosis and syndactyly. url:http://en.wikipedia.org/wiki/Acrocephalosyndactylia A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. GARD:7412 ICD10CM:Q79.8 MESH:D011045 MIM:173800 NCI:C85017 SNOMEDCT_US_2023_03_01:205524002 UMLS_CUI:C0032357 Poland anomaly Poland's syndactyly disease_ontology DOID:12961 OMIM mapping confirmed by DO. [SN]. Poland syndrome DOID:12961 A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. url:https://pubmed.ncbi.nlm.nih.gov/25831684 url:https://www.genome.gov/Genetic-Disorders/Poland-Anomaly A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal. disease_ontology DOID:12965 subleukemic leukemia DOID:12965 A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal. url:http://medical-dictionary.thefreedictionary.com/subleukemic+leukemia A leukemia located_in the central nervous system. NCI:C5440 UMLS_CUI:C1332884 Leukemia of the CNS disease_ontology DOID:12969 central nervous system leukemia DOID:12969 A leukemia located_in the central nervous system. url:http://www.springerlink.com/content/gl61tx644217n938/ A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. GARD:6639 ICD10CM:D58.0 ICD9CM:282.0 MESH:D013103 NCI:C97074 ORDO:822 SNOMEDCT_US_2023_03_01:154795009 UMLS_CUI:C0037889 Congenital spherocytic hemolytic anemia Minkowski Chauffard syndrome spherocytic anemia disease_ontology DOID:12971 Xref MGI. hereditary spherocytosis DOID:12971 A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. url:http://en.wikipedia.org/wiki/Hereditary_spherocytosis url:https://research.nhgri.nih.gov/RBCmembrane/ ICD9CM:202.46 SNOMEDCT_US_2023_03_01:188650008 UMLS_CUI:C0153831 Leukemic reticuloendotheliosis involving intrapelvic lymph nodes Leukemic reticuloendotheliosis of intrapelvic lymph nodes disease_ontology DOID:12972 intrapelvic lymph node leukemic reticuloendotheliosis DOID:12972 metastasis to intrapelvic lymph node secondary and unspecified malignant neoplasm of intrapelvic lymph nodes secondary and unspecified malignant neoplasm of intrapelvic lymph nodes (disorder) secondary and unspecified malignant neoplasm of intrapelvic lymph nodes NOS (disorder) secondary malignant neoplasm of intrapelvic lymph nodes (disorder) disease_ontology DOID:12973 obsolete secondary malignant neoplasm of intrapelvic lymph node true DOID:12973 A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. ICD10CM:B51 ICD9CM:084.1 MESH:D016780 NCI:C34800 SNOMEDCT_US_2023_03_01:27052006 UMLS_CUI:C0024537 Malaria by Plasmodium vivax Vivax Malaria disease_ontology DOID:12978 Plasmodium vivax malaria DOID:12978 A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. url:https://www.merriam-webster.com/dictionary/vivax%20malaria#medicalDictionary disease_ontology DOID:12983 obsolete transient disorder of initiating or maintaining sleep true DOID:12983 NCI:C5831 SNOMEDCT_US_2023_03_01:126976007 UMLS_CUI:C1263901 Vagus nerve tumors neoplasm of vagus nerve disease_ontology DOID:12984 vagus nerve neoplasm DOID:12984 Functional disorder of polymorphonuclear neutrophils (disorder) disease_ontology DOID:12985 obsolete functional disorder of polymorphonuclear neutrophils true DOID:12985 MESH:D018921 NCI:C4062 SNOMEDCT_US_2023_03_01:30419000 UMLS_CUI:C0282548 disease_ontology DOID:12986 leukostasis DOID:12986 A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood. ICD10CM:D70 MESH:D000380 SNOMEDCT_US_2023_03_01:154830007 UMLS_CUI:C0001824 Granulocytopenic disorder Granulopenia granulocytopenia disease_ontology DOID:12987 agranulocytosis MESH:D000380 DOID:12987 A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood. url:https://en.wikipedia.org/wiki/Agranulocytosis A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. EFO:0004216 ICD10CM:F91 ICD9CM:312.9 MESH:D019955 NCI:C89329 SNOMEDCT_US_2023_03_01:430909002 UMLS_CUI:C0149654 disease_ontology DOID:12995 conduct disorder DOID:12995 A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. url:http://en.wikipedia.org/wiki/Conduct_disorder url:http://www.nmha.org/go/conduct-disorder ICD10CM:H04.32 ICD9CM:375.32 SNOMEDCT_US_2023_03_01:193986007 UMLS_CUI:C0155237 Dacryocystitis - acute disease_ontology DOID:12996 acute dacryocystitis DOID:12996 ICD10CM:H04.31 ICD9CM:375.33 SNOMEDCT_US_2023_03_01:193988008 UMLS_CUI:C0155238 disease_ontology DOID:12997 Phlegmonous dacryocystitis DOID:12997 disease_ontology DOID:130 obsolete female genitalia nevus true DOID:130 MESH:D016893 NCI:C95804 SNOMEDCT_US_2023_03_01:195181000 UMLS_CUI:C0007282 Carotid artery stenosis Stenosis, carotid artery disease_ontology DOID:13001 carotid stenosis DOID:13001 ICD9CM:435.2 MESH:D013349 NCI:C35044 SNOMEDCT_US_2023_03_01:15258001 UMLS_CUI:C0038531 Subclavian artery stenosis subclavian steal phenomenon subclavian steal steno-occlusive disease disease_ontology DOID:13002 subclavian steal syndrome DOID:13002 ICD10CM:G45.0 ICD9CM:435.3 MESH:D014715 SNOMEDCT_US_2023_03_01:195196001 UMLS_CUI:C0042568 Vertebro-basilar insufficiency Vertebrobasilar arterial insufficiency Vertebrobasilar artery syndrome disease_ontology DOID:13003 vertebrobasilar insufficiency MESH:D014715 DOID:13003 ICD9CM:202.63 SNOMEDCT_US_2023_03_01:188664008 UMLS_CUI:C0153844 Mast cell malignancy of intra-abdominal lymph nodes malignant mast cell tumors involving intra-abdominal lymph nodes disease_ontology DOID:13005 intra-abdominal lymph node mast cell malignancy DOID:13005 A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material. DOID:1330 DOID:1337 DOID:14084 DOID:1892 DOID:2872 DOID:995 Hemorrhagic Fever Mite-Born Hemorrhagic Fever Mite-borne hemorrhagic fever (disorder) Mosquito-borne haemorrhagic fever Mosquito-borne hemorrhagic fever Mosquito-borne hemorrhagic fever (disorder) Rodent-borne hemorrhagic fever (disorder) Unspecified viral haemorrhagic fever Unspecified viral hemorrhagic fever (disorder) Viral Hemorrhagic Fever Viral hemorrhagic fever (disorder) arbovirus hemorrhagic fever hemorrhagic fever mite-borne hemorrhagic fever mosquito-borne hemorrhagic fever rodent-borne hemorrhagic fever tick-borne hemorrhagic fever viral hemorrhagic fever disease_ontology DOID:1301 obsolete RNA virus infectious disease true DOID:1301 A viral infectious disease that results_in infection, has_material_basis_in RNA viruses, which have RNA as their genetic material. url:http://en.wikipedia.org/wiki/RNA_viruses ICD10CM:B30.0 ICD9CM:077.1 NCI:C34590 SNOMEDCT_US_2023_03_01:60548004 UMLS_CUI:C0014493 EKC Epidemic keratoconjunctivitis disease_ontology DOID:13014 shipyard eye DOID:13014 EKC A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain. Cryptococcal Gastroenteritis Cryptococcal gastroenteritis (disorder) disease_ontology DOID:13019 obsolete cryptococcal gastroenteritis true DOID:13019 A cryptococcosis that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Filobasidiella neoformans and has_symptom gastointestinal bleeding, has_symptom diarrhea and has_symptom abdominal pain. url:http://smj.sma.org.sg/4911/4911cr4.pdf url:http://www.cfsph.iastate.edu/Factsheets/pdfs/cryptococcosis.pdf A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing. Cryptococcal Pneumonia disease_ontology DOID:13020 obsolete pulmonary cryptococcosis true DOID:13020 A cryptococcosis that results_in inflammation located_in lungs, has_material_basis_in Cryptococcus neoformans which results_in_formation_of nodular lesions and results_in_formation_of lobar consolidation in the lungs of the immunocompetent patient and has_symptom cough, has_symptom chest pain and has_symptom difficulty breathing. url:http://en.wikipedia.org/wiki/Cryptococcosis url:http://www.merck.com/mmhe/sec17/ch197/ch197f.html?qt=pulmonary%20cryptococcosis&alt=sh url:https://www.merriam-webster.com/dictionary/cryptococcosis#medicalDictionary url:https://www.ncbi.nlm.nih.gov/pubmed/17312037 A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV. disease_ontology DOID:13021 obsolete AIDS-related cryptococcosis true DOID:13021 A cryptococcosis that is_a disease associated with AIDS has_material_basis_in Cryptococcus neoformans which results_in a systemic infection in individuals with HIV. url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 Haemoglobin S trait Hb-S trait Sickle cell trait (disorder) Sickle-cell trait disease_ontology DOID:13023 obsolete sickle cell trait true DOID:13023 GARD:5695 ICD10CM:H35.1 ICD9CM:362.21 MESH:D012178 NCI:C34982 SNOMEDCT_US_2023_03_01:155110004 UMLS_CUI:C0035344 Retrolental fibroplasia premature retinopathy disease_ontology DOID:13025 retinopathy of prematurity DOID:13025 A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions. ICD10CM:B48.0 ICD9CM:116.2 MESH:D060368 SNOMEDCT_US_2023_03_01:47306003 UMLS_CUI:C0152066 Cutaneous lobomycosis infection by Loboa loboi disease_ontology Cutaneous blastomycosis DOID:13026 lobomycosis DOID:13026 A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions. url:http://www.cdc.gov/EID/content/15/8/1301.htm url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Lobomycosis/index.html An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories. GARD:8172 ICD10CM:G45.4 ICD9CM:437.7 MESH:D020236 NCI:C85198 SNOMEDCT_US_2023_03_01:366963000 UMLS_CUI:C0338591 disease_ontology DOID:13027 transient global amnesia DOID:13027 An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories. url:http://en.wikipedia.org/wiki/Transient_global_amnesia ICD10CM:N47.6 ICD9CM:607.1 SNOMEDCT_US_2023_03_01:198020004 UMLS_CUI:C0004691 disease_ontology DOID:13031 balanoposthitis DOID:13031 A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin. Trichomonal balanoposthitis (disorder) Trichomonal balanoposthitis [Ambiguous] Trichomonas Balanoposthitis trichomonal balanoposthitis disease_ontology DOID:13032 obsolete Trichomonas balanoposthitis true DOID:13032 A Trichomonas vaginalis trichomoniasis that involves inflammation of the foreskin and glans in uncircumcised males caused by Trichomonas vaginalis resulting in redness of foreskin or penis, rash on the head of penis, foul-smelling discharge, and painful penis and foreskin. url:http://emedicine.medscape.com/article/230617-overview ICD10CM:N48.1 MESH:D001446 NCI:C26705 SNOMEDCT_US_2023_03_01:155928003 UMLS_CUI:C0004690 disease_ontology DOID:13033 balanitis DOID:13033 A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse. ICD10CM:A68 ICD9CM:087 MESH:D012061 SNOMEDCT_US_2023_03_01:186820006 UMLS_CUI:C0035021 disease_ontology DOID:13034 relapsing fever DOID:13034 A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse. url:http://www.cdc.gov/ncidod/dvbid/RelapsingFever/index.html A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. ICD10CM:A68.0 ICD9CM:087.0 MESH:D012061 NCI:C128426 SNOMEDCT_US_2023_03_01:14683004 UMLS_CUI:C0152061 Relapsing fever, louse-borne disease_ontology DOID:13035 louse-borne relapsing fever DOID:13035 A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. url:https://www.ncbi.nlm.nih.gov/pubmed/30869050 A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. ICD10CM:A68.1 ICD9CM:087.1 NCI:C34976 SNOMEDCT_US_2023_03_01:10301003 UMLS_CUI:C0035022 Relapsing fever, tick-borne soft tick relapsing fever disease_ontology DOID:13036 tick-borne relapsing fever DOID:13036 A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. url:http://en.wikipedia.org/wiki/Relapsing_fever ICD10CM:H02.22 ICD9CM:374.22 SNOMEDCT_US_2023_03_01:193939008 UMLS_CUI:C0155198 disease_ontology DOID:13037 mechanical lagophthalmos DOID:13037 ICD10CM:H02.21 ICD9CM:374.23 MESH:D000092164 SNOMEDCT_US_2023_03_01:193940005 UMLS_CUI:C0155199 disease_ontology DOID:13038 cicatricial lagophthalmos DOID:13038 Syphilitic optic atrophy (disorder) disease_ontology DOID:13040 obsolete syphilitic optic atrophy true DOID:13040 ICD10CM:P29.3 ICD9CM:747.83 MESH:D010547 MIM:265380 NCI:C85006 SNOMEDCT_US_2023_03_01:35604006 UMLS_CUI:C0031190 Fetal circulation Persistent fetal circulation Persistent foetal circulation congenital alveolar capillary dysplasia with misalignment of pulmonary veins persistent foetal circulation syndrome persistent pulmonary hypertension of the newborn disease_ontology DOID:13042 OMIM mapping confirmed by DO. [SN]. persistent fetal circulation syndrome DOID:13042 A sphenoid sinusitis which lasts for less than 4 weeks. ICD10CM:J01.3 ICD9CM:461.3 SNOMEDCT_US_2023_03_01:77919000 UMLS_CUI:C0155807 Sphenoidal sinus -acute disease_ontology DOID:13046 acute sphenoidal sinusitis DOID:13046 A sphenoid sinusitis which lasts for less than 4 weeks. url:http://en.wikipedia.org/wiki/sinusitis An ancylostomiasis that is characterized by skin manifestations (cutaneous larva migrans) occuring due to migrating larvae of Ancylostoma braziliense in the upper epidermis. It is marked by the presence of erythematous, serpiginous and pruritic cutaneous eruptions. Ancylostomiasis due to Ancylostoma Braziliense Ancylostomiasis due to Ancylostoma braziliense (disorder) Ancylostomiasis due to ancylostoma braziliense disease_ontology DOID:13047 obsolete Ancylostoma braziliense ancylostomiasis true DOID:13047 An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia. Ancylostomiasis due to Ancylostoma Duodenale Ancylostomiasis due to Ancylostoma duodenale Ancylostomiasis due to Ancylostoma duodenale (disorder) disease_ontology DOID:13049 obsolete Ancylostoma duodenale ancylostomiasis true DOID:13049 An ancylostomiasis that involves parasitic infection of the small intestine in humans, cats and dogs by the nematode Ancylostoma duodenale. The symptoms include abdominal pain, loss of appetite, geophagy and anemia. url:http://en.wikipedia.org/wiki/Ancylostoma_duodenale A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems. AIDS Dementia HIV associated cognitive and motor complex HIV-associated dementia acquired immune deficiency syndrome dementia complex disease_ontology DOID:1305 obsolete AIDS dementia complex true DOID:1305 A HIV encephalopathy that results_in infection in adults located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems. url:http://en.wikipedia.org/wiki/AIDS_dementia_complex An ovarian cyst that arises from the accumulation of fluid in the follicle after an oocyte has been release. ICD9CM:620.1 UMLS_CUI:C0156361 disease_ontology DOID:13050 corpus luteum cyst DOID:13050 An ovarian cyst that arises from the accumulation of fluid in the follicle after an oocyte has been release. url:https://www.mayoclinic.org/diseases-conditions/ovarian-cysts/multimedia/corpus-luteum-cyst/img-20007971 An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change. AIDS Encephalopathy Human immunodefiency virus encephalopathy disease_ontology DOID:1306 obsolete HIV encephalopathy true DOID:1306 An acquired immunodeficiency syndrome that results_in infection located_in brain, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, and has_symptom behavioral change. url:http://emedicine.medscape.com/article/1166894-overview A glaucoma characterized by elevated intraocular pressure secondary to ocular trauma, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Traumatic glaucoma is caused by ocular trauma that affects aqueous outflow, such as trauma that leads to inflammation or deposition of proteins in the trabecular network, that changes the anterior chamber angle, or that causes chronic inflammation. ICD9CM:365.65 SNOMEDCT_US_2023_03_01:68241007 UMLS_CUI:C0339594 Glaucoma associated with ocular trauma disease_ontology DOID:13060 traumatic glaucoma DOID:13060 A glaucoma characterized by elevated intraocular pressure secondary to ocular trauma, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Traumatic glaucoma is caused by ocular trauma that affects aqueous outflow, such as trauma that leads to inflammation or deposition of proteins in the trabecular network, that changes the anterior chamber angle, or that causes chronic inflammation. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741166/ Major depressive disorder, recurrent episode, moderate degree Moderate recurrent major depression (disorder) recurrent depressive disorder, current episode moderate (disorder) disease_ontology DOID:13063 obsolete moderate recurrent major depression true DOID:13063 ICD10CM:N25.0 ICD9CM:588.0 MESH:D012080 NCI:C114827 SNOMEDCT_US_2023_03_01:266617009 UMLS_CUI:C0035086 renal rickets disease_ontology DOID:13068 renal osteodystrophy DOID:13068 A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. ICD9CM:290.8 UMLS_CUI:C0154319 disease_ontology DOID:1307 dementia DOID:1307 A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. url:http://www.nlm.nih.gov/medlineplus/ency/article/000739.htm ICD9CM:701.1 NCI:C34746 SNOMEDCT_US_2023_03_01:20637002 UMLS_CUI:C0022581 Keratoderma - acquired Keratoderma, acquired acquired keratoderma disease_ontology DOID:13072 acquired hyperkeratosis DOID:13072 A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. DOID:10462 DOID:11399 DOID:11761 DOID:12844 DOID:12845 DOID:12846 DOID:12847 DOID:12848 DOID:13119 DOID:9412 DOID:9690 DOID:9691 ICD9CM:681.9 UMLS_CUI:C0007644 Dermatophytic onychia Dermatophytosis of nail Onychomycosis due to dermatophyte cellulitis and abscess of buttock cellulitis and abscess of face cellulitis and abscess of finger cellulitis and abscess of finger and toe cellulitis and abscess of gluteal region cellulitis and abscess of trunk cellulitis and abscess of upper arm and forearm dermatophytic onychomycosis disease_ontology cellulitis and abscess DOID:13074 tinea unguium DOID:13074 A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. url:http://en.wikipedia.org/wiki/Nail_disease url:http://en.wikipedia.org/wiki/Onychomycosis An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation. disease_ontology DOID:13076 obsolete abdominal actinomycosis true DOID:13076 An actinomycosis that involves invasion and infiltration located_in large intestine, located_in greater omentum, or located_in abdominal wall, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus or has_material_basis_in Actinomyces meyeri, which produce a characteristic granulomatous inflammatory response, with pus production and has_symptom abscess formation. url:http://www.ncbi.nlm.nih.gov/sites/entrez/14616714 An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules. disease_ontology DOID:13077 obsolete cutaneous actinomycosis true DOID:13077 An actinomycosis that results_in infection located_in skin, has_material_basis_in Actinomyces israelii, which invades the soft tissue resulting in the formation of abnormal channels leading to the skin surface (external sinus tracts) that discharge pale yellow sulfur granules. url:http://dermatology.cdlib.org/113/case_reports/actinomycosis/fazeli.html url:http://en.wikipedia.org/wiki/Cutaneous_actinomycosis A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules. ICD10CM:B47 MESH:D008271 NCI:C85505 SNOMEDCT_US_2023_03_01:410039003 UMLS_CUI:C0024449 Madura foot Maduromycosis, mycotic Mycotic mycetoma eumycetoma maduromycosis disease_ontology DOID:13078 eumycotic mycetoma DOID:13078 A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules. url:http://en.wikipedia.org/wiki/Maduromycosis url:http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Mycetoma/index.html A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss. AIDS-like syndrome acquired immune deficiency syndrome (& [ARC]) disease_ontology DOID:1308 obsolete AIDS related complex true DOID:1308 A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss. url:http://chestofbooks.com/health/natural-cure/Ross-Horne/Health-and-Survival-in-the-21st-Century/AIDS-Related-Complex-ARC.html url:http://www.medterms.com/script/main/art.asp?articlekey=10924 An autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated with systemic lupus erythematosus, rheumatic fever, and ligamentous laxity. ICD10CM:M12.0 ICD9CM:714.4 SNOMEDCT_US_2023_03_01:84801008 UMLS_CUI:C0152084 Jaccoud syndrome disease_ontology DOID:13080 Jaccoud's syndrome DOID:13080 An autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated with systemic lupus erythematosus, rheumatic fever, and ligamentous laxity. url:https://ard.bmj.com/content/57/9/540 url:https://radiopaedia.org/articles/jaccoud-arthropathy NCI:C8540 SNOMEDCT_US_2023_03_01:93473009 UMLS_CUI:C0685200 Angioma of the Subcutaneous tissue Subcutaneous haemangioma Subcutaneous hemangioma disease_ontology DOID:13081 hemangioma of subcutaneous tissue DOID:13081 A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. ICD10CM:I45.6 ICD9CM:426.81 MESH:D008151 MIM:108950 ORDO:844 SNOMEDCT_US_2023_03_01:55475008 UMLS_CUI:C0024054 atrial tachyarrhythmia with short PR interval syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias disease_ontology DOID:13087 Lown-Ganong-Levine syndrome DOID:13087 A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. url:http://en.wikipedia.org/wiki/Lown-Ganong-Levine_syndrome GARD:10285 ICD10CM:P91.2 ICD9CM:779.7 MESH:D007969 NCI:C99013 SNOMEDCT_US_2023_03_01:230769007 UMLS_CUI:C0023529 disease_ontology DOID:13088 periventricular leukomalacia DOID:13088 MESH:D020765 UMLS_CUI:C0752138 disease_ontology DOID:13089 intracranial arterial disease DOID:13089 ICD10CM:H34.23 ICD9CM:362.32 MESH:D015356 NCI:C34436 SNOMEDCT_US_2023_03_01:50821009 UMLS_CUI:C0006123 Arterial retinal branch occlusion retinal arterial branch occlusion disease_ontology DOID:13094 branch retinal artery occlusion DOID:13094 MESH:D014715 UMLS_CUI:C0042560 Vertebral artery syndrome disease_ontology DOID:13095 vertebral artery insufficiency DOID:13095 An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11. GARD:7664 MESH:D018860 MIM:182410 SNOMEDCT_US_2023_03_01:716745004 UMLS_CUI:C0282492 Idiopathic livedo reticularis with systemic involvement disease_ontology DOID:13096 Sneddon syndrome DOID:13096 An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11. url:https://pubmed.ncbi.nlm.nih.gov/25075847/ MESH:D002537 UMLS_CUI:C0007771 disease_ontology DOID:13097 intracranial arteriosclerosis DOID:13097 A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. ICD10CM:H34.1 ICD9CM:362.31 MESH:D015356 NCI:C34456 SNOMEDCT_US_2023_03_01:38742007 UMLS_CUI:C0007688 disease_ontology DOID:13098 central retinal artery occlusion DOID:13098 A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. url:http://en.wikipedia.org/wiki/Central_retinal_artery_occlusion A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. GARD:7064 ICD10CM:I67.5 ICD9CM:437.5 MESH:D009072 MIM:252350 MIM:300845 MIM:607151 MIM:608796 MIM:614042 MIM:615750 NCI:C84895 ORDO:2573 ORDO:280679 ORDO:401945 SNOMEDCT_US_2023_03_01:69116000 UMLS_CUI:C0026654 progressive intracranial arterial occlusion disease_ontology DOID:13099 Xref MGI. OMIM mapping confirmed by DO. [SN]. Moyamoya disease MESH:D009072 DOID:13099 A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. url:http://en.wikipedia.org/wiki/Moyamoya_disease MESH:D020301 UMLS_CUI:C0751895 disease_ontology DOID:13100 intracranial vasospasm DOID:13100 A bladder benign neoplasm that derives_from smooth muscle cells. NCI:C6178 UMLS_CUI:C1332560 leiomyoma of the urinary bladder disease_ontology DOID:13109 bladder leiomyoma DOID:13109 A bladder benign neoplasm that derives_from smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532898/ A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (greater than 3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia. AIDS nephropathy AIDS-Related nephropathy AIDS-associated nephropathy disease_ontology DOID:1311 obsolete HIV-associated nephropathy true DOID:1311 A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (greater than 3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia. url:http://emedicine.medscape.com/article/246031-overview NCI:C39834 UMLS_CUI:C1511199 disease_ontology DOID:13110 bladder squamous papilloma DOID:13110 ICD9CM:374.02 SNOMEDCT_US_2023_03_01:38683003 UMLS_CUI:C0155189 disease_ontology DOID:13112 mechanical entropion DOID:13112 ICD9CM:374.04 SNOMEDCT_US_2023_03_01:67383002 UMLS_CUI:C0155191 disease_ontology DOID:13113 cicatricial entropion DOID:13113 A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate. DOID:11398 DOID:9689 ICD10CM:L03.0 MESH:D010304 NCI:C79702 SNOMEDCT_US_2023_03_01:267830000 UMLS_CUI:C0030578 Infected nailfold Onychia and paronychia of finger Onychia and paronychia of toe fungal nail infection disease_ontology paronychia inflammation DOID:13117 paronychia DOID:13117 A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate. url:http://en.wikipedia.org/wiki/Paronychia DOID:3945 EFO:0004236 GARD:6517 MESH:D005923 MIM:PS603278 NCI:C37308 SNOMEDCT_US_2023_03_01:25821008 UMLS_CUI:C0017668 FGS FSGS focal glomerular sclerosis focal glomerulosclerosis disease_ontology DOID:1312 Xref MGI. OMIM mapping confirmed by DO. [SN]. focal segmental glomerulosclerosis DOID:1312 FGS FSGS A nutritional deficiency disease that is characterized by inadequate protein intake. DOID:13121 deficiency anemia ICD10CM:D53.0 ICD9CM:281.4 SNOMEDCT_US_2023_03_01:85746008 UMLS_CUI:C0154290 Anemia due to protein deficiency protein-deficiency anaemia disease_ontology DOID:13120 protein-deficiency anemia DOID:13120 A nutritional deficiency disease that is characterized by inadequate protein intake. url:https://link.springer.com/chapter/10.1007/978-1-4615-7308-1_21 DOID:13120 ICD9CM:281.9 SNOMEDCT_US_2023_03_01:191125001 UMLS_CUI:C0041782 deficiency anemias disease_ontology DOID:13121 redundant parent term[LS]. obsolete deficiency anemia true DOID:13121 ICD9CM:098.53 SNOMEDCT_US_2023_03_01:186929006 UMLS_CUI:C0153219 disease_ontology DOID:13127 gonococcal spondylitis DOID:13127 A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption. DOID:13130 DOID:13131 DOID:13132 ICD9CM:642.50 UMLS_CUI:C0156669 Severe pre-eclampsia, with delivery antepartum severe pre-eclampsia postpartum severe pre-eclampsia severe preeclampsia disease_ontology DOID:13129 severe pre-eclampsia DOID:13129 A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption. url:https://www.ncbi.nlm.nih.gov/pubmed/25373431 url:https://www.ncbi.nlm.nih.gov/pubmed/28793357 An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. Human immunodeficiency virus infection wasting syndrome disease_ontology AIDS wasting syndrome DOID:1313 obsolete HIV wasting syndrome true DOID:1313 An acquired immunodeficiency syndrome that results_in involuntary loss of more than 10% of body weight, plus more than 30 days of either diarrhea, or weakness and fever, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. url:http://en.wikipedia.org/wiki/AIDS_wasting_syndrome url:http://www.aidsinfonet.org/fact_sheets/view/519 A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. GARD:8528 ICD10CM:O14.2 MESH:D017359 NCI:C84750 SNOMEDCT_US_2023_03_01:95605009 UMLS_CUI:C0162739 disease_ontology DOID:13133 HELLP syndrome DOID:13133 A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. url:https://www.ncbi.nlm.nih.gov/pubmed/24400024 url:https://www.ncbi.nlm.nih.gov/pubmed/25879992 A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll. ICD10CM:H00.01 ICD9CM:373.11 SNOMEDCT_US_2023_03_01:1489008 UMLS_CUI:C0019919 external stye disease_ontology DOID:13134 hordeolum externum DOID:13134 A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll. url:http://en.wikipedia.org/wiki/Stye ICD9CM:376.22 SNOMEDCT_US_2023_03_01:69763009 UMLS_CUI:C0152135 disease_ontology DOID:13135 exophthalmic ophthalmoplegia DOID:13135 A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13. GARD:7883 ICD10CM:G12.0 ICD9CM:335.0 MESH:D014897 MIM:253300 NCI:C98670 SNOMEDCT_US_2023_03_01:64383006 UMLS_CUI:C0043116 HMN (Hereditary motor Neuropathy) Proximal type I SMA1 Spinal muscular atrophy 1 hereditary motor neuropathy proximal type I infantile muscular atrophy progressive muscular atrophy of infancy disease_ontology DOID:13137 OMIM mapping confirmed by DO. [SN]. Werdnig-Hoffmann disease DOID:13137 A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13. url:https://www.ncbi.nlm.nih.gov/pubmed/?term=10700541 SMA1 ICD9CM:580.0 SNOMEDCT_US_2023_03_01:197579006 UMLS_CUI:C0341692 acute glomerulonephritis with lesion of proliferative glomerulonephritis disease_ontology DOID:13138 acute proliferative glomerulonephritis DOID:13138 NCI:C128143 SNOMEDCT_US_2023_03_01:45406000 UMLS_CUI:C0403416 disease_ontology DOID:13139 crescentic glomerulonephritis DOID:13139 Wasting disease Wasting disease (context-dependent category) Wasting disease (disorder) Wasting disease, NOS disease_ontology DOID:1314 obsolete wasting syndrome true DOID:1314 A uveitis characterized by inflammation and pus formation of the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid, and has_symptom pain, blurry vision, and eye redness. Suppurative uveitis is typically caused by infection, especially by bacterial infection post-operatively or post-traumatically. MESH:D015829 UMLS_CUI:C0042168 disease_ontology DOID:13140 suppurative uveitis DOID:13140 A uveitis characterized by inflammation and pus formation of the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid, and has_symptom pain, blurry vision, and eye redness. Suppurative uveitis is typically caused by infection, especially by bacterial infection post-operatively or post-traumatically. url:https://www.djo.org.in/articles/26/4/uveitis-classification1.html url:https://www.slideshare.net/Jihajie/uveitis-56740528 An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid. ICD10CM:H20.9 MESH:D014605 NCI:C26909 SNOMEDCT_US_2023_03_01:267719008 UMLS_CUI:C0042164 disease_ontology DOID:13141 uveitis DOID:13141 An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid. url:https://www.mayoclinic.org/diseases-conditions/uveitis/symptoms-causes/syc-20378734 ICD9CM:405.1 NCI:C3658 SNOMEDCT_US_2023_03_01:44111003 UMLS_CUI:C0155620 disease_ontology DOID:13143 benign secondary hypertension DOID:13143 A benign secondary hypertension that is characterized by chronic elevated blood pressure in the arteries supplying blood to the kidneys and has_material_basis_in renal artery stenosis. ICD9CM:405.11 UMLS_CUI:C0155621 disease_ontology DOID:13145 benign renovascular hypertension DOID:13145 A benign secondary hypertension that is characterized by chronic elevated blood pressure in the arteries supplying blood to the kidneys and has_material_basis_in renal artery stenosis. url:https://medlineplus.gov/ency/article/000204.htm A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain. ICD10CM:B37.81 ICD9CM:112.84 NCI:C27027 SNOMEDCT_US_2023_03_01:20639004 UMLS_CUI:C0239295 Candida Esophagitis Candidal esophagitis Candidiasis of the esophagus esophageal moniliasis esophageal thrush disease_ontology DOID:13146 esophageal candidiasis DOID:13146 A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain. url:http://en.wikipedia.org/wiki/Esophageal_candidiasis NCI:C27107 SNOMEDCT_US_2023_03_01:235602008 UMLS_CUI:C0341109 disease_ontology DOID:13147 fungal esophagitis DOID:13147 A cystitis characterized by a sudden onset or severe symptoms. ICD10CM:N30.0 ICD9CM:595.0 NCI:C26934 SNOMEDCT_US_2023_03_01:197833009 UMLS_CUI:C0149523 disease_ontology DOID:13148 acute cystitis DOID:13148 A cystitis characterized by a sudden onset or severe symptoms. url:http://en.wikipedia.org/wiki/Urinary_tract_infection A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred). Tuberculous Fibrosis of lung Tuberculous fibrosis of lung (disorder) Tuberculous fibrosis of lung, unspecified examination disease_ontology DOID:13149 obsolete tuberculous lung fibrosis true DOID:13149 A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred). url:http://www.nhlbi.nih.gov/health/dci/Diseases/ipf/ipf_whatis.html Sensory disorder of eyelid Sensory disorder of eyelid (disorder) disease_ontology DOID:13157 obsolete sensory disorder of eyelid true DOID:13157 A squamous cell carcinoma that is located_in the scrotum. NCI:C4643 SNOMEDCT_US_2023_03_01:276860003 UMLS_CUI:C0349551 Scrotal squamous cell carcinoma disease_ontology DOID:13159 scrotum squamous cell carcinoma DOID:13159 A squamous cell carcinoma that is located_in the scrotum. url:https://www.ncbi.nlm.nih.gov/pubmed/26113906 NCI:C7361 UMLS_CUI:C1331544 melanoma of scrotum disease_ontology DOID:13160 scrotum melanoma DOID:13160 A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing. Pertussis pneumonia Pneumonia in whooping cough disease_ontology DOID:13164 obsolete Bordetella pertussis pneumonia true DOID:13164 A commensal Alcaligenaceae infectious disease that is caused by the bacterium Bordetella pertussis resulting in difficulty breathing. url:http://en.wikipedia.org/wiki/Pertussis url:http://www.merck.com/mmhe/sec23/ch272/ch272g.html?qt=pertussis%20pneumonia&alt=sh An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever. Pneumonia in aspergillosis disease_ontology DOID:13165 obsolete Aspergillus pneumonia true DOID:13165 An aspergillosis that involves infection of the lung with Aspergillus, which causes pneumonia in people with an impaired immune system. The symptoms include wheezing, coughing and fever. url:http://www.merck.com/mmhe/sec04/ch051/ch051d.html url:http://www.ncbi.nlm.nih.gov/sites/entrez/15735246 An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever. GARD:602 ICD10CM:B44.81 ICD9CM:518.6 MESH:D001229 MIM:103920 NCI:C84547 SNOMEDCT_US_2023_03_01:37981002 UMLS_CUI:C0004031 pulmonary aspergillus disease disease_ontology DOID:13166 OMIM mapping confirmed by DO. [SN]. allergic bronchopulmonary aspergillosis DOID:13166 An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever. url:http://www.merck.com/mmhe/sec04/ch051/ch051d.html url:http://www.nlm.nih.gov/medlineplus/ency/article/000070.htm ls:IEDB ICD10CM:C60.0 ICD9CM:187.1 SNOMEDCT_US_2023_03_01:93805009 UMLS_CUI:C0153598 malignant neoplasm of foreskin malignant tumor of foreskin disease_ontology DOID:13168 prepuce cancer DOID:13168 ICD10CM:C63.1 ICD9CM:187.6 NCI:C3559 SNOMEDCT_US_2023_03_01:94065000 UMLS_CUI:C0153603 Spermatic cord Ca malignant tumor of spermatic cord malignant tumor of the Spermatic Cord disease_ontology DOID:13169 spermatic cord cancer DOID:13169 ICD10CM:H55.04 ICD9CM:379.55 MESH:D009759 SNOMEDCT_US_2023_03_01:9520006 UMLS_CUI:C0155380 disease_ontology DOID:13174 dissociated nystagmus DOID:13174 disease_ontology Tuberculosis of female genital organs DOID:13175 obsolete female genital tuberculosis true DOID:13175 disease_ontology DOID:13177 obsolete chronic erythremia in remission true DOID:13177 MESH:D045723 UMLS_CUI:C0917875 disease_ontology DOID:13185 esophageal diverticulosis DOID:13185 MESH:D004931 NCI:C34811 SNOMEDCT_US_2023_03_01:70667005 UMLS_CUI:C0025164 disease_ontology DOID:13186 megaesophagus DOID:13186 An arthritis that has_material_basis_in uric acid crystal deposits located_in joint. DOID:14144 EFO:0004274 ICD10CM:M10 ICD9CM:274 ICD9CM:274.0 MESH:D006073 MESH:D015210 NCI:C34650 SNOMEDCT_US_2023_03_01:201661008 SNOMEDCT_US_2023_03_01:90560007 UMLS_CUI:C0003868 UMLS_CUI:C0018099 Articular gout Gouty arthropathy gouty arthritis disease_ontology DOID:13189 gout DOID:13189 An arthritis that has_material_basis_in uric acid crystal deposits located_in joint. url:http://en.wikipedia.org/wiki/Gout url:http://www.mayoclinic.com/health/gout/DS00090 url:http://www.nlm.nih.gov/medlineplus/ency/article/000422.htm A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. DOID:2125 DOID:2126 DOID:3543 DOID:6649 DOID:911 ICD10CM:C71 ICD9CM:191 ICD9CM:239.6 MESH:D001932 NCI:C170814 NCI:C2907 NCI:C3568 NCI:C5115 NCI:C7710 SNOMEDCT_US_2023_03_01:126952004 SNOMEDCT_US_2023_03_01:428061005 SNOMEDCT_US_2023_03_01:93727008 UMLS_CUI:C0006118 UMLS_CUI:C0153633 UMLS_CUI:C0220624 UMLS_CUI:C0750974 UMLS_CUI:C0750979 UMLS_CUI:C1334557 BT - Brain tumour adult brain tumor adult malignant brain neoplasm brain neoplasm brain neoplasm, adult malignant brain tumour malignant primary brain neoplasm malignant primary brain tumor malignant tumor of Brain malignant tumor of adult brain neoplasm of brain primary brain neoplasm primary brain tumor primary malignant neoplasm of brain tumor of the Brain disease_ontology DOID:1319 brain cancer DOID:1319 A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. url:http://www.cancer.gov/dictionary?CdrID=387264 pulmonary congestion and hypostasis (disorder) pulmonary congestion and hypostasis NOS (disorder) disease_ontology DOID:13192 obsolete pulmonary congestion and hypostasis true DOID:13192 Non-toxic nodular Goiter Non-toxic nodular goiter (disorder) Non-toxic nodular goiter NOS (disorder) Non-toxic nodular goitre Nontoxic nodular goiter Nontoxic nodular goiter NOS Nontoxic nodular goitre NOS Unspecified nontoxic nodular goiter disease_ontology DOID:13194 obsolete non-toxic nodular goiter true DOID:13194 ICD10CM:E04.9 NCI:C35271 SNOMEDCT_US_2023_03_01:267369002 UMLS_CUI:C0221777 Goiter, non-toxic Goitre, non-toxic Nodule-thyroid, non tox Non-toxic goitre Non-toxic simple goitre disease_ontology DOID:13195 nontoxic goiter DOID:13195 MESH:D047268 SNOMEDCT_US_2023_03_01:75667007 UMLS_CUI:C0271760 disease_ontology DOID:13196 lingual goiter DOID:13196 MESH:D006044 NCI:C131437 SNOMEDCT_US_2023_03_01:237570007 UMLS_CUI:C0018023 Goiter, nodular nodular goitre disease_ontology DOID:13197 nodular goiter DOID:13197 A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency. ICD10CM:E01.2 ICD9CM:240.0 MESH:D006043 NCI:C35023 SNOMEDCT_US_2023_03_01:271949009 UMLS_CUI:C0018022 Iodine-deficiency-related endemic goitre simple goitre disease_ontology DOID:13198 endemic goiter DOID:13198 A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency. url:https://medicalguidelines.msf.org/viewport/CG/english/endemic-goitre-and-iodine-deficiency-18482487.html MESH:D006045 SNOMEDCT_US_2023_03_01:66392007 UMLS_CUI:C0018024 Retrosternal thyroid goiter Retrosternal thyroid goitre substernal goitre disease_ontology DOID:13200 substernal goiter DOID:13200 Syphilitic iridocyclitis (secondary) secondary syphilitic iridocyclitis (disorder) disease_ontology DOID:13202 obsolete secondary syphilitic iridocyclitis true DOID:13202 DOID:13220 DOID:13225 ICD10CM:N40 ICD9CM:600.1 UMLS_CUI:C0748012 disease_ontology DOID:13206 nodular prostate DOID:13206 ICD9CM:362.02 NCI:C84457 SNOMEDCT_US_2023_03_01:154679002 UMLS_CUI:C0154830 PDR disease_ontology DOID:13207 proliferative diabetic retinopathy DOID:13207 PDR ICD9CM:362.03 NCI:C35668 SNOMEDCT_US_2023_03_01:390834004 UMLS_CUI:C0004606 Non proliferative diabetic retinopathy Non-Proliferative Diabetic Retinopathy disease_ontology DOID:13208 background diabetic retinopathy DOID:13208 ICD9CM:426.51 SNOMEDCT_US_2023_03_01:46319007 UMLS_CUI:C0155704 Right bundle branch block with left posterior fascicular block disease_ontology DOID:13209 right bundle branch block DOID:13209 secondary malignant neoplasm of brain and spinal cord (disorder) secondary malignant neoplasm of brain or spinal cord NOS (disorder) disease_ontology DOID:13211 obsolete secondary malignant neoplasm of brain and spinal cord true DOID:13211 metastasis to skin metastatic skin carcinoma metastatic tumor to the skin secondary malignant neoplasm of skin secondary malignant neoplasm of skin (disorder) secondary malignant neoplasm of skin NOS (disorder) disease_ontology DOID:13212 obsolete metastasis to skin true DOID:13212 metastatic tumor to the breast secondary malignant neoplasm of breast secondary malignant neoplasm of female breast (disorder) disease_ontology DOID:13213 obsolete metastatic cancer to the breast true DOID:13213 ICD10CM:H35.34 ICD9CM:362.54 SNOMEDCT_US_2023_03_01:193388002 UMLS_CUI:C1261331 Macular cyst or hole Macular cyst, hole, or pseudohole of retina Macular pseudohole retinal cyst disease_ontology DOID:13214 hole retinal cyst DOID:13214 Trans-sexualism with heterosexual history Transsexuality with heterosexual history (disorder) disease_ontology DOID:13219 obsolete transsexuality with heterosexual history true DOID:13219 An uterine fibroid that is located adjacent to the lining of the uterus. ICD10CM:D25.0 ICD9CM:218.0 SNOMEDCT_US_2023_03_01:95279007 UMLS_CUI:C0153993 Submucous leiomyoma of uterus disease_ontology DOID:13222 submucous uterine fibroid DOID:13222 An uterine fibroid that is located adjacent to the lining of the uterus. url:https://www.ncbi.nlm.nih.gov/pubmed/25177608 An uterine benign neoplasm derived from the smooth muscle layer of the uterus. EFO:0000731 ICD10CM:D25 ICD9CM:218 MESH:D007889 MIM:150699 NCI:C3434 SNOMEDCT_US_2023_03_01:44598004 UMLS_CUI:C0042133 Plexiform leiomyoma UTERUS FIBROMA leiomyoma of Corpus Uteri uterine leiomyoma disease_ontology DOID:13223 OMIM mapping confirmed by DO. [LS]. uterine fibroid DOID:13223 An uterine benign neoplasm derived from the smooth muscle layer of the uterus. url:http://en.wikipedia.org/wiki/Uterine_fibroid url:http://www.nlm.nih.gov/medlineplus/uterinefibroids.html disease_ontology DOID:13224 obsolete introverted personality true DOID:13224 A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear. ICD10CM:A21.1 ICD9CM:021.3 SNOMEDCT_US_2023_03_01:73363000 UMLS_CUI:C0152944 disease_ontology DOID:13226 oculoglandular tularemia DOID:13226 A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear. url:http://www.cdc.gov/tularemia/signssymptoms/ ICD9CM:362.77 UMLS_CUI:C0154866 retinal dystrophies primarily involving Bruch membrane disease_ontology DOID:13227 retinal dystrophies primarily involving Bruch's membrane DOID:13227 malignant neoplasm of trachea, bronchus and lung (disorder) malignant neoplasm of trachea, bronchus, and lung disease_ontology DOID:1323 obsolete malignant neoplasm of trachea, bronchus and lung true DOID:1323 disease_ontology DOID:13232 obsolete Diffuse cholesteatosis of middle ear and mastoid true DOID:13232 A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain. ICD10CM:A25.1 ICD9CM:026.1 SNOMEDCT_US_2023_03_01:52138004 UMLS_CUI:C0152063 Streptobacillary fever disease_ontology Streptobacillary rat-bite fever Streptobacillosis DOID:13238 Haverhill fever DOID:13238 A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain. url:https://en.wikipedia.org/wiki/Haverhill_fever ICD9CM:521.41 UMLS_CUI:C1456167 disease_ontology DOID:13239 internal pathological resorption DOID:13239 A respiratory system cancer that is located_in the lung. DOID:13075 DOID:1322 DOID:9881 ICD10CM:C34.1 ICD10CM:C34.2 ICD10CM:C34.3 ICD9CM:162.3 ICD9CM:162.4 ICD9CM:162.5 ICD9CM:162.8 MIM:211980 MIM:608935 MIM:612571 MIM:612593 MIM:614210 SNOMEDCT_US_2023_03_01:187860004 SNOMEDCT_US_2023_03_01:187864008 SNOMEDCT_US_2023_03_01:187868006 SNOMEDCT_US_2023_03_01:187874006 UMLS_CUI:C0024624 UMLS_CUI:C0153491 UMLS_CUI:C0153492 UMLS_CUI:C0153493 disease_ontology lung neoplasm DOID:1324 lung cancer DOID:1324 A respiratory system cancer that is located_in the lung. url:http://en.wikipedia.org/wiki/Lung_cancer ICD10CM:K03.3 ICD9CM:521.4 MESH:D014091 SNOMEDCT_US_2023_03_01:70931000 UMLS_CUI:C0040451 disease_ontology DOID:13240 tooth resorption MESH:D014091 DOID:13240 A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. EFO:0003780 GARD:848 ICD10CM:M35.2 ICD9CM:136.1 MESH:D001528 MIM:109650 NCI:C34416 SNOMEDCT_US_2023_03_01:310701003 UMLS_CUI:C0004943 Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex disease_ontology Behcet's syndrome DOID:13241 OMIM mapping confirmed by DO. [SN]. Behcet's disease DOID:13241 A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. url:http://en.wikipedia.org/wiki/Beh%C3%A7et%27s_disease url:http://www.nlm.nih.gov/medlineplus/behcetssyndrome.html NCI:C3241 SNOMEDCT_US_2023_03_01:53773002 UMLS_CUI:C0026684 Appendicele Mucocele disease_ontology DOID:13248 mucocele of appendix DOID:13248 MESH:D011006 SNOMEDCT_US_2023_03_01:17465007 UMLS_CUI:C0032266 disease_ontology DOID:13249 pneumatosis cystoides intestinalis DOID:13249 A respiratory system cancer that is located_in the bronchus. ICD10CM:C34 ICD9CM:162.9 SNOMEDCT_US_2023_03_01:187875007 UMLS_CUI:C0348343 malignant neoplasm of bronchus and lung malignant neoplasm of bronchus or lung disease_ontology DOID:1325 bronchus cancer DOID:1325 A respiratory system cancer that is located_in the bronchus. url:http://en.wikipedia.org/wiki/Bronchus A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. DOID:0050006 ICD9CM:009.2 MESH:D004403 SNOMEDCT_US_2023_03_01:154268000 UMLS_CUI:C0013369 disease_ontology diarrhea of presumed infectious origin diarrhoea DOID:13250 diarrhea is both a disease and a symptom [ms] diarrhea DOID:13250 A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. url:http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12. disease_ontology DOID:13251 obsolete HIV enteropathy true DOID:13251 A Human immunodeficiency virus infectious disease that results_in infection characterized by chronic diarrhea lasting longer than 1 month, without an identified infectious cause after thorough evaluation, in an HIV-positive individual, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. It is observed that HIV-infected individuals have histologic abnormalities of the gastrointestinal mucosa, malabsorption, and lymphocyte depletion causing diarrhea, increased gastrointestinal inflammation, increased intestinal permeability, and malabsorption of bile acid and vitamin B12. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777614/pdf/nihms-156875.pdf MESH:D008641 UMLS_CUI:C0025472 disease_ontology DOID:13252 mesenteric vascular occlusion DOID:13252 disease_ontology DOID:13253 obsolete jejunal disease true DOID:13253 A colonic disease characterized by the formation and inflammation of diverticula within the colon wall. DOID:10757 MESH:D004239 SNOMEDCT_US_2023_03_01:111359004 UMLS_CUI:C0012814 colonic diverticular disease disease_ontology DOID:13254 diverticulitis of colon DOID:13254 A colonic disease characterized by the formation and inflammation of diverticula within the colon wall. url:https://en.wikipedia.org/wiki/Diverticulitis An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. Histoplasma duboisii with endocarditis (disorder) disease_ontology DOID:13257 obsolete Histoplasma duboisii endocarditis true DOID:13257 An African histoplasmosis that results_in inflammation located_in endocardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom murmurs, has_symptom peripheral edema, has_symptom pulmonary rales, has_symptom petechia and has_symptom skin lesions. url:http://emedicine.medscape.com/article/299054-overview A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. DOID:3054 GARD:9564 ICD10CM:A01.0 ICD9CM:002.0 MESH:D014435 NCI:C35089 SNOMEDCT_US_2023_03_01:186091002 UMLS_CUI:C0041466 Typhoid disease_ontology DOID:13258 typhoid fever DOID:13258 A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. url:http://www.merriam-webster.com/medlineplus/typhoid%20fever Drug-induced hallucinatory state Drug-induced hallucinosis (disorder) Drug-induced psychotic disorder with hallucinations disease_ontology DOID:13262 obsolete hallucinatory state induced by drug true DOID:13262 An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. GARD:10353 ICD10CM:E80.20 ICD9CM:277.1 MESH:D011164 NCI:C97096 SNOMEDCT_US_2023_03_01:190912004 UMLS_CUI:C0032708 Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism disease_ontology DOID:13268 porphyria DOID:13268 An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. url:http://en.wikipedia.org/wiki/Porphyria#Subtypes url:https://www.genome.gov/Genetic-Disorders/Porphyria GARD:6619 ICD10CM:E80.29 MESH:D046349 MIM:121300 NCI:C84759 SNOMEDCT_US_2023_03_01:7425008 UMLS_CUI:C0162531 Coproporphyrinogen oxidase deficiency hereditary coproporphyria porphyria disease_ontology DOID:13269 OMIM mapping confirmed by DO. [SN]. hereditary coproporphyria DOID:13269 An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. GARD:4527 ICD10CM:E80.0 MESH:D046351 MIM:177000 MIM:300752 NCI:C84698 ORDO:79278 SNOMEDCT_US_2023_03_01:51022005 UMLS_CUI:C0162568 EPP Protoporphyria disease_ontology DOID:13270 Xref MGI. OMIM mapping confirmed by DO. [SN]. erythropoietic protoporphyria DOID:13270 An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. url:http://en.wikipedia.org/wiki/Erythropoietic_protoporphyria EPP GARD:4446 ICD10CM:E80.0 MESH:D017092 MIM:263700 NCI:C84697 SNOMEDCT_US_2023_03_01:67312003 UMLS_CUI:C0162530 Erythropoietic porphyria disease_ontology DOID:13271 OMIM mapping confirmed by DO. [SN]. cutaneous porphyria DOID:13271 A bacterial pneumonia involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis. ICD10CM:J15.0 ICD9CM:482.0 MESH:D007710 Pneumonia due to Klebsiella pneumoniae Pneumonia due to Klebsiella pneumoniae (disorder) disease_ontology DOID:13272 Klebsiella pneumonia DOID:13272 A bacterial pneumonia involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis. url:http://en.wikipedia.org/wiki/Klebsiella_pneumonia url:https://www.ncbi.nlm.nih.gov/pubmed/1555037 A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages. Pneumonia due to Escherichia coli (disorder) Pneumonia due to escherichia coli Pneumonia due to escherichia coli [E. coli] pneumonia due to escherichia coli disease_ontology DOID:13273 obsolete Escherichia coli pneumonia true DOID:13273 A commensal Escherichia coli infectious disease that is caused by Escherichia coli. The disease results from proliferation of aspirated organisms in terminal airways, usually at multiple sites in the lung. Multifocal area of consolidation result and terminal airways and alveoli are filled with proteinaceous fluid, fibrin, neutrophils, and macrophages. url:http://books.google.com/books?id=kD9VZ267wDEC&pg=PA314&lpg#v=onepage&q=&f=false A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms. Enzootic pneumonia of calves (disorder) disease_ontology DOID:13274 obsolete enzootic pneumonia of calves true DOID:13274 A bovine respiratory disease complex which is an infectious disease in calves involving stress and possibly an initial respiratory viral infection followed by a secondary bacterial infection of the lower respiratory tract. Mycoplasmal and bacterial agents including Pasteurella multocida, Mannheimia haemolytica, and Mycoplasma bovis represent the most frequently isolated pathogenic organisms. url:http://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121207.htm A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema. Rickettsial pneumonia (disorder) disease_ontology DOID:13275 obsolete rickettsial pneumonia true DOID:13275 A rickettsiosis that is caused by the genus Rickettsia. This infection results in pleural effusions and pulmonary edema. url:http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg#v=onepage&q=&f=false A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat. ICD10CM:J15.7 ICD9CM:483.0 MESH:D011019 Mycoplasma pneumonia Mycoplasmal pneumonia Pneumonia due to Eaton's agent Pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae (disorder) cold agglutinin positive pneumonia disease_ontology DOID:13276 Mycoplasma pneumoniae pneumonia DOID:13276 A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat. url:http://en.wikipedia.org/wiki/Pneumonia url:http://www.nlm.nih.gov/medlineplus/ency/article/000082.htm url:https://www.ncbi.nlm.nih.gov/pubmed/20632053 A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough. mycoplasmal pneumonia of swine disease_ontology DOID:13277 obsolete Mycoplasma hyopneumoniae pneumonia true DOID:13277 A mycoplasmal pneumonia that is a contagious infection of pigs caused my Mycoplasma hyopneumoniae resulting in lung lesions and chronic cough. url:http://books.google.com/books?id=Ye48iZa98r0C&pg=PA194&lpg#v=onepage&q=&f=false A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation. Salmonella pneumonia (disorder) disease_ontology DOID:13278 obsolete Salmonella pneumonia true DOID:13278 A Salmonella infectious disease that is caused by Gram-negative bacteria of genus Salmonella which is rare in adults, although more common in children in the tropics. This infection is complicated by suppuration with lung abscess or empyema formation. url:http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA422&lpg#v=onepage&q=&f=false A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus (Phlebovirus riftense), which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites. ICD10CM:A92.4 MESH:D012295 NCI:C128419 ORDO:319251 SNOMEDCT_US_2025_05_01:402917003 UMLS_CUI:C0035613 disease_ontology DOID:1328 Rift Valley fever ICD10CM:A92.4 MESH:D012295 NCI:C128419 ORDO:319251 UMLS_CUI:C0035613 DOID:1328 A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus (Phlebovirus riftense), which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites. url:http://www.who.int/mediacentre/factsheets/fs207/en/ url:https://pmc.ncbi.nlm.nih.gov/articles/PMC8009587/ url:https://www.who.int/news-room/fact-sheets/detail/rift-valley-fever A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting. ICD9CM:014.8 UMLS_CUI:C0152724 tuberculosis of intestine disease_ontology DOID:13282 intestinal tuberculosis DOID:13282 A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting. url:http://smj.sma.org.sg/5006/5006pe1.pdf An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever. Enteroinvasive Escherichia coli gastrointestinal tract infection Enteroinvasive Escherichia coli gastrointestinal tract infection (disorder) intestinal infectious disease due to enteroinvasive E. coli disease_ontology DOID:13285 obsolete enteroinvasive Escherichia coli infectious disease true DOID:13285 An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever. url:http://www.textbookofbacteriology.net/e.coli_4.html ICD9CM:377.22 SNOMEDCT_US_2023_03_01:19148004 UMLS_CUI:C0155298 Crater-like optic disc holes disease_ontology DOID:13295 crater-like holes of optic disc DOID:13295 A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin. NCI:C40255 UMLS_CUI:C1519926 vaginal Muellerian papilloma disease_ontology DOID:133 vaginal Mullerian papilloma DOID:133 A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin. url:https://www.ncbi.nlm.nih.gov/pubmed/26948653 An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. GARD:7610 ICD10CM:M42.0 ICD9CM:732.0 MESH:D012544 MIM:181440 NCI:C34999 SNOMEDCT_US_2023_03_01:53406005 UMLS_CUI:C0036310 Juvenile osteochondritis of the spine Juvenile osteochondrosis of Scheurermann Juvenile osteochondrosis of spine Scheuermann's kyphosis Sherman's Disease Scheuermann disease disease_ontology DOID:13300 OMIM mapping confirmed by DO. [SN]. Scheuermann's disease DOID:13300 An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. url:http://en.wikipedia.org/wiki/Scheuermann%27s_disease url:https://www.merriam-webster.com/medical/Scheuermann%27s%20disease A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy. Anterior nasal diphtheria Anterior nasal diphtheria (disorder) disease_ontology DOID:13305 obsolete anterior nasal diphtheria true DOID:13305 A diphtheria that is characterized by a mucopurulent nasal discharge (containing both mucus and pus) which may become blood-tinged. A white membrane usually forms on the nasal septum. The disease is usually fairly mild because of apparent poor systemic absorption of toxin in this location, and it can be terminated rapidly by antitoxin and antibiotic therapy. url:http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/dip.pdf A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. ICD10CM:A36.85 ICD9CM:032.84 SNOMEDCT_US_2023_03_01:197847008 UMLS_CUI:C0152954 disease_ontology DOID:13306 diphtheritic cystitis DOID:13306 A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. url:http://books.google.com/books?id=qpCgt_azaBcC&pg=PA191&lpg=PA191&dq#v=onepage&q=&f=false url:https://www.ncbi.nlm.nih.gov/pubmed/18889690 A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane. Conjunctival diphtheria Conjunctival diphtheria (disorder) Pseudomembranous Diphtheritic Conjunctivitis disease_ontology DOID:13307 obsolete pseudomembranous diphtheritic conjunctivitis true DOID:13307 A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane. url:http://books.google.com/books?id=dOdhR9EytYcC&pg=PA104&lpg=PA104&dq#v=onepage&q=&f=false A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae. Diphtheritic myocarditis (disorder) disease_ontology DOID:13308 obsolete diphtheritic myocarditis true DOID:13308 A myocarditis characterized by dilated cardiomyopathy and a variety of types of dysrhythmia and conduction disturbances. It is caused by Corynebacterium diphtheriae. url:http://www.journals.uchicago.edu/doi/abs/10.1086/344176 A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic bullneck apprearance. Nasopharyngeal Diphtheria Nasopharyngeal diphtheria (disorder) disease_ontology DOID:13309 obsolete nasopharyngeal diphtheria true DOID:13309 A diphtheria that involves membrane formation from the faucial tonsil areas over the pharyngeal wall and into the nasopharynx. Severe disease may cause marked edema of the submandibular areas and the anterior neck along with lymphadenopathy, giving a characteristic bullneck apprearance. url:http://www.jstor.org/stable/3417440?seq=2 A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. ICD10CM:A36.89 ICD9CM:032.83 SNOMEDCT_US_2023_03_01:13596001 UMLS_CUI:C0152953 disease_ontology DOID:13310 diphtheritic peritonitis DOID:13310 A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. url:http://books.google.com/books?id=PRvTKedFeN8C&pg=PA505&lpg=PA505&dq#v=onepage&q=&f=false NCI:C5717 UMLS_CUI:C1335310 disease_ontology DOID:13313 pancreatic mucinous ductal ectasia DOID:13313 disease_ontology DOID:13315 obsolete relapsing pancreatitis true DOID:13315 A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. ICD10CM:K86.81 MESH:D010188 NCI:C84316 SNOMEDCT_US_2023_03_01:47367009 UMLS_CUI:C0267963 EPI disease_ontology DOID:13316 exocrine pancreatic insufficiency DOID:13316 A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. url:https://www.ncbi.nlm.nih.gov/books/NBK555926/ EPI A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. DOID:9996 ICD10CM:E16.9 MESH:D046768 MIM:PS256450 NCI:C4375 SNOMEDCT_US_2023_03_01:42681006 UMLS_CUI:C0027773 Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy disease_ontology DOID:13317 OMIM mapping confirmed by DO. [SN]. hyperinsulinemic hypoglycemia DOID:13317 A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. url:http://en.wikipedia.org/wiki/Hyperinsulinemic_hypoglycemia Mast cell malignancy of lymph nodes of inguinal region and lower limb (disorder) malignant mast cell tumors involving lymph nodes of inguinal region and lower limb disease_ontology DOID:13319 obsolete lower limb lymph node mast cell malignancy true DOID:13319 A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors. disease_ontology DOID:1332 obsolete Bunyaviridae infectious disease true DOID:1332 A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Bunyaviridae viruses, which are transmitted_by arthropod vectors. url:http://en.wikipedia.org/wiki/Bunyaviridae ICD10CM:H10.43 ICD9CM:372.12 SNOMEDCT_US_2023_03_01:39429002 UMLS_CUI:C0155147 disease_ontology DOID:13326 chronic follicular conjunctivitis DOID:13326 A borderline glaucoma characterized by an anatomically narrow anterior chamber angle with or without additional clinical features and risk factors associated with high likelihood of developing glaucomatous optic atrophy in the future. These additional features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy. ICD9CM:365.02 UMLS_CUI:C0154941 disease_ontology DOID:13327 anatomical narrow angle borderline glaucoma DOID:13327 A borderline glaucoma characterized by an anatomically narrow anterior chamber angle with or without additional clinical features and risk factors associated with high likelihood of developing glaucomatous optic atrophy in the future. These additional features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055310/ A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus. ICD9CM:366.41 SNOMEDCT_US_2023_03_01:43959009 UMLS_CUI:C0011876 Cataract - diabetic disease_ontology DOID:13328 diabetic cataract DOID:13328 A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus. url:https://www.ncbi.nlm.nih.gov/pubmed/23479523 ICD10CM:H46.3 ICD9CM:377.34 MESH:D000081028 SNOMEDCT_US_2023_03_01:194053003 UMLS_CUI:C0155303 disease_ontology DOID:13329 toxic optic neuropathy DOID:13329 A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue. disease_ontology DOID:1333 obsolete african horse sickness true DOID:1333 A viral infectious disease that results_in infection in horses, mules, donkeys and zebras located_in lung, has_material_basis_in African horsesickness virus, which is transmitted_by biting midge, Culicoides imicola, transmitted_by Culex mosquito, transmitted_by Anopheles mosquito, transmitted_by Aedes mosquito, transmitted_by Hyalomma tick, and transmitted_by Rhipicephalus tick. The infection has_symptom tachypnea, has_symptom forced expiration, has_symptom profuse sweating, has_symptom spasmodic coughing, and has_symptom ecchymoses on the tongue. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/african_horse_sickness.pdf ICD10CM:K14.3 ICD9CM:529.3 SNOMEDCT_US_2023_03_01:6971002 UMLS_CUI:C0392494 Tongue papillary hypertrophy disease_ontology DOID:13333 hypertrophy of tongue papillae DOID:13333 A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice. Hepatitis due to toxoplasmosis Toxoplasma hepatitis (disorder) disease_ontology DOID:13335 obsolete Toxoplasma hepatitis true DOID:13335 A toxoplasmosis that involves inflammation of the liver caused by the protozoan Toxoplasma gondii, which results in jaundice. url:https://www.ncbi.nlm.nih.gov/pubmed/7111119 A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur. GARD:10326 ICD10CM:P37.1 MESH:D014125 NCI:C50503 ORDO:858 SNOMEDCT_US_2023_03_01:268875000 UMLS_CUI:C0040560 Toxoplasmosis - congen. disease_ontology DOID:13336 congenital toxoplasmosis DOID:13336 A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur. url:http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh url:http://www.who.int/bulletin/volumes/91/7/12-111732.pdf A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain. Myocarditis due to acquired toxoplasmosis (disorder) Myocarditis due to toxoplasmosis Toxoplasma myocarditis (disorder) disease_ontology DOID:13338 obsolete Toxoplasma myocarditis true DOID:13338 A toxoplasmosis that involves infection of the heart with Toxoplasma gondii resulting in shortness of breath and constricting chest pain. url:http://ukpmc.ac.uk/picrender.cgi?artid=1030799&blobtype=pdf A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses. Reoviridae disease disease due to Orthoreovirus disease due to Reoviridae (disorder) disease due to Reovirus (disorder) disease_ontology DOID:1334 obsolete Reoviridae infectious disease true DOID:1334 A dsRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Reoviridae viruses. url:http://www.expasy.org/viralzone/all_by_species/104.html ICD9CM:372.15 SNOMEDCT_US_2023_03_01:13816006 UMLS_CUI:C0155148 disease_ontology DOID:13341 parasitic conjunctivitis DOID:13341 A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales. Pneumonitis due to toxoplasmosis Toxoplasma pneumonitis (disorder) disease_ontology DOID:13342 obsolete Toxoplasma pneumonia true DOID:13342 A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales. url:http://books.google.com/books?id=L1t_iG3t_C0C&pg=PA460&lpg#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/sites/entrez/8519364 A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness. DOID:13337 DOID:13340 Chorioretinitis due to toxoplasmosis Conjunctivitis due to acquired toxoplasmosis (disorder) Conjunctivitis due to toxoplasmosis Ocular toxoplasmosis (disorder) Toxoplasma chorioretinitis Toxoplasma conjunctivitis Toxoplasmosis chorioretinitis (disorder) ocular toxoplasmosis disease_ontology DOID:13343 obsolete ocular toxoplasmosis true DOID:13343 A toxoplasmosis that results from reactivation of congenital toxoplasmosis, but rarely with acquired infection. Focal necrotizing retinitis and a secondary granulomatous inflammation of the choroid occur. The symptoms include conjunctivitis, ocular pain, blurred vision, and blindness. url:http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh ICD10CM:C32.3 ICD9CM:161.3 SNOMEDCT_US_2023_03_01:109370001 UMLS_CUI:C0153486 malignant neoplasm of laryngeal cartilage malignant neoplasm of laryngeal cartilages malignant tumor of laryngeal cartilage disease_ontology DOID:13348 laryngeal cartilage cancer DOID:13348 A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue. disease_ontology Soremuzzle DOID:1335 obsolete bluetongue true DOID:1335 A viral infectious disease that results_in infection in ruminants, has_material_basis_in Bluetongue virus, which is transmitted_by Culicoides imicola midge. The infection has_symptom fever, has_symptom excessive salivation, has_symptom swelling of the face and tongue, and has_symptom cyanosis of the tongue. url:http://en.wikipedia.org/wiki/Bluetongue_disease Gender identity disorder of childhood (disorder) disease_ontology DOID:13350 obsolete gender identity disorder in children true DOID:13350 ICD10CM:F65.4 ICD9CM:302.2 MESH:D010378 NCI:C94355 SNOMEDCT_US_2023_03_01:192516001 UMLS_CUI:C0030764 Paedophilia disease_ontology DOID:13351 pedophilia DOID:13351 A sexual health disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. ICD9CM:302.0 SNOMEDCT_US_2023_03_01:52813007 UMLS_CUI:C0233880 disease_ontology DOID:13352 ego-dystonic sexual orientation DOID:13352 A sexual health disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. url:http://en.wikipedia.org/wiki/Ego-dystonic_sexual_orientation ICD10CM:H16.32 ICD9CM:370.52 SNOMEDCT_US_2023_03_01:193785001 UMLS_CUI:C0155089 disease_ontology DOID:13353 diffuse interstitial keratitis DOID:13353 ICD9CM:374.11 SNOMEDCT_US_2023_03_01:71659009 UMLS_CUI:C0155193 Involutional ectropion disease_ontology DOID:13356 senile ectropion DOID:13356 A chondromalacia that is characterized by well-localized pain when the patella is grated against the femoral condyles or when the knee is actively extended with the patella manually displaced distally. This occurs when the posterior articular surface of the patella starts losing its density when in a healthy state and becomes softer with subsequent tearing, fissuring, and erosion of the hyaline cartilage. ICD10CM:M22.4 ICD9CM:717.7 MESH:D046789 MIM:168900 SNOMEDCT_US_2023_03_01:156521009 UMLS_CUI:C0008475 Chondromalacia of patella softening of articular cartilage of patella disease_ontology DOID:13357 OMIM mapping confirmed by DO. [SN]. chondromalacia patellae DOID:13357 A chondromalacia that is characterized by well-localized pain when the patella is grated against the femoral condyles or when the knee is actively extended with the patella manually displaced distally. This occurs when the posterior articular surface of the patella starts losing its density when in a healthy state and becomes softer with subsequent tearing, fissuring, and erosion of the hyaline cartilage. url:https://www.ncbi.nlm.nih.gov/books/NBK459195 A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. DOID:14696 GARD:6322 ICD10CM:Q79.6 ICD9CM:756.83 MESH:D004535 MIM:PS130000 NCI:C34568 SNOMEDCT_US_2023_03_01:268352002 UMLS_CUI:C0013720 Cutis hyperelastica elastic skin disease_ontology DOID:13359 OMIM mapping confirmed by DO. [LS]. OMIM mapping by NeuroDevNet. [LS]. Ehlers-Danlos syndrome DOID:13359 A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. url:http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome url:http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome url:http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706 url:http://www.merriam-webster.com/medlineplus/ehlers-Danlos url:http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html url:https://www.ehlers-danlos.com/what-is-eds/ url:https://www.ncbi.nlm.nih.gov/pubmed/23711271 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration. Nairobi sheep virus disease (disorder) Nairobi sheep virus gastroenteritis disease_ontology DOID:1336 obsolete Nairobi sheep disease true DOID:1336 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine of sheep and goats, has_material_basis_in Nairobi sheep disease virus, which is transmitted_by Rhipicephalus appendiculatus ticks. The infection has_symptom fever, has_symptom leukopenia, has_symptom rapid respiration, has_symptom anorexia, has_symptom profound depression, has_symptom diarrhea, and has_symptom dehydration. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/nairobi_sheep_disease.pdf Nephrotic syndrome with Lesion of Proliferative Glomerulonephritis disease_ontology DOID:13361 obsolete nephrotic syndrome with lesion of proliferative glomerulonephritis true DOID:13361 MESH:D021081 UMLS_CUI:C0236811 disease_ontology DOID:13364 obsolete chronobiology disease true DOID:13364 A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process. ICD9CM:315.09 UMLS_CUI:C0154631 disease_ontology DOID:13365 reading disorder DOID:13365 A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process. url:http://en.wikipedia.org/wiki/Reading_disability url:https://en.wikipedia.org/wiki/Learning_disability A movement disease that is of unknown etiology characterized by progressive rigidity. GARD:5023 ICD10CM:G25.82 ICD9CM:333.91 MESH:D016750 MIM:184850 NCI:C85170 SNOMEDCT_US_2023_03_01:5217008 UMLS_CUI:C0085292 Stiff-man syndrome stiff man syndrome disease_ontology DOID:13366 Stiff-Person syndrome DOID:13366 A movement disease that is of unknown etiology characterized by progressive rigidity. url:http://en.wikipedia.org/wiki/Stiff_person_syndrome ls:IEDB A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. SNOMEDCT_US_2023_03_01:58950002 UMLS_CUI:C1279621 Deep seated dermatophytosis Granuloma trichophyticum Majocchi's granuloma disease_ontology DOID:13368 tinea profunda DOID:13368 A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. url:https://www.sciencedirect.com/topics/pharmacology-toxicology-and-pharmaceutical-science/tinea A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling. ICD10CM:B35.2 ICD9CM:110.2 MESH:C000656824 SNOMEDCT_US_2023_03_01:48971001 UMLS_CUI:C0153246 Dermatophytosis of hand Tinea manus disease_ontology DOID:13369 tinea manuum DOID:13369 A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling. url:http://en.wikipedia.org/wiki/Tinea_manuum A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy. ICD10CM:A75.3 ICD9CM:081.2 MESH:D012612 SNOMEDCT_US_2023_03_01:73911003 UMLS_CUI:C0036472 Japanese river fever Kedani fever Scrub mite-borne typhus Tsutsugamushi Tsutsugamushi disease disease_ontology Chigger-borne rickettsiosis Chigger-borne typhus Mite-borne rickettsiosis Mite-borne typhus Scrub (mite-borne) typhus Tropical typhus Tsutsugamushi fever Typhus fever due to Rickettsia tsutsugamushi DOID:13371 scrub typhus DOID:13371 A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy. url:http://en.wikipedia.org/wiki/Scrub_typhus 1 1 A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. GARD:5784 ICD10CM:E88.01 ICD9CM:273.4 MESH:D019896 MIM:613490 NCI:C84397 SNOMEDCT_US_2023_03_01:30188007 UMLS_CUI:C0221757 AAT deficiency disease_ontology DOID:13372 OMIM mapping confirmed by DO. [SN]. alpha 1-antitrypsin deficiency MESH:D019896 DOID:13372 A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. url:http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency url:http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm url:https://alpha1.org/what-is-alpha1/ url:https://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. GARD:6445 ICD10CM:M61.1 ICD9CM:728.11 MESH:D009221 MIM:135100 NCI:C3040 ORDO:337 SNOMEDCT_US_2023_03_01:82725007 UMLS_CUI:C0016037 Stone Man Syndrome myositis ossificans progressiva progressive myositis ossificans progressive ossifying myositis disease_ontology DOID:13374 OMIM mapping confirmed by DO. [SN]. fibrodysplasia ossificans progressiva DOID:13374 A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. url:http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva url:http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/ url:https://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia-ossificans-progressiva A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head. ICD9CM:446.5 MESH:D013700 MIM:187360 NCI:C35065 ORDO:397 SNOMEDCT_US_2023_03_01:195354005 UMLS_CUI:C0039483 Horton's disease giant cell arteritis disease_ontology DOID:13375 OMIM mapping confirmed by DO. [LS]. temporal arteritis DOID:13375 A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head. url:https://www.mayoclinic.org/diseases-conditions/giant-cell-arteritis/symptoms-causes/syc-20372758 Congenital aortic valve insufficiency (disorder) Congenital aortic valve insufficiency NOS (disorder) Congenital aortic valve insufficiency, unspecified (disorder) Congenital bicuspid aortic valve insufficiency Congenital insufficiency of aortic valve Congenital insufficiency of aortic valve (disorder) disease_ontology DOID:13376 obsolete congenital aortic insufficiency true DOID:13376 A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities. EFO:0004246 GARD:6816 ICD10CM:M30.3 ICD9CM:446.1 MESH:D009080 MIM:611775 NCI:C34825 SNOMEDCT_US_2023_03_01:75053002 UMLS_CUI:C0026691 Kawasaki's disease MLNS acute febrile MCLS acute febrile mucocutaneous lymph node syndrome mucocutaneous lymph node syndrome disease_ontology DOID:13378 OMIM mapping confirmed by DO. [SN]. Kawasaki disease DOID:13378 A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities. url:http://en.wikipedia.org/wiki/Kawasaki_disease MLNS A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. GARD:1999 ICD10CM:D64.4 MESH:D000742 MIM:PS224120 NCI:C84646 ORDO:85 SNOMEDCT_US_2023_03_01:191272005 UMLS_CUI:C0002876 congenital dyshaematopoietic anaemia disease_ontology DOID:1338 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital dyserythropoietic anemia DOID:1338 A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. url:http://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia url:http://www.ncbi.nlm.nih.gov/books/NBK5313/ disease_ontology DOID:13380 obsolete acute pyelonephritis with lesion of renal medullary necrosis true DOID:13380 A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors. GARD:12671 ICD10CM:D51.0 ICD9CM:281.0 MESH:D000752 MIM:170900 NCI:C2871 SNOMEDCT_US_2023_03_01:191139001 UMLS_CUI:C0002892 ANEMIA PERNICIOUS Addison's anaemia Biermer's anaemia Biermer's anemia pernicious anaemia disease_ontology DOID:13381 OMIM mapping confirmed by DO. [SN]. pernicious anemia DOID:13381 A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors. url:https://medlineplus.gov/ency/article/000569.htm url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3441227/ A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. ICD10CM:D53.1 MESH:D000749 MIM:261100 MIM:613839 NCI:C34382 SNOMEDCT_US_2023_03_01:191138009 UMLS_CUI:C0002888 Grasbeck-Imerslund syndrome Imerslund-Grasbeck syndrome MGA1 Norwegian type RH-MGA1 megaloblastic anaemia recessive hereditary megaloblastic anaemia 1 recessive hereditary megaloblastic anemia 1 disease_ontology IGS DOID:13382 Xref MGI. megaloblastic anemia DOID:13382 A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. url:http://en.wikipedia.org/wiki/Megaloblastic_anemia RH-MGA1 IGS An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. ICD10CM:A22.2 ICD9CM:022.2 MESH:C571911 SNOMEDCT_US_2023_03_01:186302005 UMLS_CUI:C0152945 disease_ontology DOID:13386 gastrointestinal anthrax DOID:13386 An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. url:http://www.springerlink.com/content/g3575hwr232l4411/ url:https://en.wikipedia.org/wiki/Anthrax#Gastrointestinal malignant neoplasm of upper limb malignant neoplasm of upper limb NOS (disorder) malignant neoplasm of upper limb, NOS malignant tumor of upper limb (disorder) disease_ontology DOID:13387 obsolete upper limb cancer true DOID:13387 A vulva carcinoma that is located_in the labia majora. NCI:C9363 UMLS_CUI:C1334356 Labia Majora cancer disease_ontology carcinoma of labia majora DOID:13389 labia majora carcinoma DOID:13389 A vulva carcinoma that is located_in the labia majora. url:https://www.ncbi.nlm.nih.gov/pubmed/27917514 A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. GARD:6274 ICD10CM:D61.01 MESH:D029503 MIM:PS105650 NCI:C61236 ORDO:124 Blackfan - Diamond syndrome chronic constitutional pure red cell anaemia disease_ontology DOID:1339 Xref MGI. OMIM mapping confirmed by DO. [SN]. Diamond-Blackfan anemia DOID:1339 A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. url:http://en.wikipedia.org/wiki/Diamond%E2%80%93Blackfan_anemia url:http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia url:http://www.cdc.gov/ncbddd/dba/ url:http://www.omim.org/entry/105650 disease_ontology DOID:13397 obsolete atypical manic disorder true DOID:13397 disease_ontology DOID:13398 obsolete open angle with borderline glaucoma findings true DOID:13398 A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. ICD10CM:H53.5 ICD9CM:368.5 MESH:D003117 NCI:C3891 SNOMEDCT_US_2023_03_01:193683001 UMLS_CUI:C0242225 BLINDNESS COLOR Colour blindness Colour vision deficiency disease_ontology DOID:13399 color blindness DOID:13399 A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. url:http://en.wikipedia.org/wiki/Color_blindness A vaginal cancer that has_material_basis_in glandular tissue. NCI:C40250 UMLS_CUI:C1519921 disease_ontology DOID:134 vaginal glandular tumor DOID:134 A vaginal cancer that has_material_basis_in glandular tissue. url:https://www.mayoclinic.org/diseases-conditions/vaginal-cancer/symptoms-causes/syc-20352447 A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. GARD:7504 MESH:D012010 NCI:C34974 SNOMEDCT_US_2023_03_01:191252000 UMLS_CUI:C0034902 Red cell hypoplasia primary red cell aplasia pure red cell aplasia disease_ontology DOID:1340 pure red-cell aplasia DOID:1340 A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142432/ MESH:D000793 MIM:607140 UMLS_CUI:C0002982 disease_ontology DOID:13401 OMIM mapping confirmed by DO. [SN]. angioid streaks DOID:13401 ICD10CM:D86.3 NCI:C34996 SNOMEDCT_US_2023_03_01:55941000 UMLS_CUI:C0036203 Cutaneous sarcoid cutaneous sarcoidosis disease_ontology DOID:13402 skin sarcoidosis DOID:13402 A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system. NCI:C35441 SNOMEDCT_US_2023_03_01:111936002 UMLS_CUI:C0398676 cerebral sarcoidosis disease_ontology DOID:13403 neurosarcoidosis DOID:13403 A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975794/ A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve. ICD10CM:D86.89 MESH:D014608 SNOMEDCT_US_2023_03_01:31541009 UMLS_CUI:C0042171 Heerfordt's syndrome disease_ontology DOID:13404 uveoparotid fever DOID:13404 A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739221/ A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle. NCI:C35589 SNOMEDCT_US_2023_03_01:75403004 UMLS_CUI:C0392077 disease_ontology DOID:13405 cardiac sarcoidosis DOID:13405 A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731586/ A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction. ICD10CM:D86.0 MEDDRA:10037430 MESH:D017565 NCI:C34997 SNOMEDCT_US_2023_03_01:187230004 UMLS_CUI:C0036205 lung Sarcoidosis disease_ontology DOID:13406 pulmonary sarcoidosis DOID:13406 A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction. url:https://www.atsjournals.org/doi/full/10.1164/rccm.201006-0865CI NCI:C35807 UMLS_CUI:C1334067 disease_ontology DOID:13407 hypercalcemic sarcoidosis DOID:13407 metastatic tumor to the Pleura secondary malignant neoplasm of pleura secondary malignant neoplasm of pleura (disorder) disease_ontology DOID:13408 obsolete metastasis to pleura true DOID:13408 ICD10CM:K83.2 ICD9CM:576.3 NCI:C78528 SNOMEDCT_US_2023_03_01:37439003 UMLS_CUI:C0156218 disease_ontology DOID:13409 perforation of bile duct DOID:13409 Congenital anemia Congenital anemia (disorder) disease_ontology DOID:1341 obsolete congenital anemia true DOID:1341 A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood. GARD:10452 ICD10CM:K76.82 ICD9CM:572.2 MESH:D006501 NCI:C79596 SNOMEDCT_US_2023_03_01:197332007 UMLS_CUI:C0019151 Portal-systemic encephalopathy disease_ontology DOID:13413 hepatic encephalopathy DOID:13413 A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood. url:https://en.wikipedia.org/wiki/Hepatic_encephalopathy Diabetes mellitus juvenile type, not stated as uncontrolled, with peripheral circulatory disorder Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with peripheral circulatory disorder disease_ontology DOID:13416 obsolete diabetes mellitus insulin dependent type, not stated as uncontrolled, with peripheral circulatory disorder true DOID:13416 An agnosia that is a loss of the ability to recognize text. DOID:4427 ICD9CM:315.01 MESH:D004410 MESH:D004411 SNOMEDCT_US_2023_03_01:9236007 UMLS_CUI:C0002018 UMLS_CUI:C0013388 Aphemesthaesia acquired dyslexia disease_ontology DOID:13417 alexia DOID:13417 An agnosia that is a loss of the ability to recognize text. url:http://en.wikipedia.org/wiki/Agnosia url:http://en.wikipedia.org/wiki/Alexia_%28disorder%29 ICD9CM:564.81 MESH:D055496 SNOMEDCT_US_2023_03_01:425671009 UMLS_CUI:C0695242 disease_ontology DOID:13419 neurogenic bowel DOID:13419 An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life. DOID:13639 ICD10CM:D61.0 ICD10CM:D61.01 ICD9CM:284.0 MESH:D029502 SNOMEDCT_US_2023_03_01:191236003 SNOMEDCT_US_2023_03_01:267523003 UMLS_CUI:C0702159 UMLS_CUI:C0949116 congenital aplastic anaemia congenital aplastic anemia congenital hypoplastic anaemia disease_ontology Constitutional aplastic anaemia DOID:1342 congenital hypoplastic anemia DOID:1342 An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life. url:https://en.wikipedia.org/wiki/Congenital_hypoplastic_anemia DOID:2863 ICD10CM:N34.2 ICD9CM:597.80 MESH:D014526 NCI:C26904 SNOMEDCT_US_2023_03_01:154388003 SNOMEDCT_US_2023_03_01:31822004 UMLS_CUI:C0041976 UMLS_CUI:C0311389 Non-Gonococcal Urethritis Nongonococcal urethritis disease_ontology DOID:1343 urethritis DOID:1343 A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. The infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face. GARD:5905 MESH:D014211 SNOMEDCT_US_2023_03_01:186978001 UMLS_CUI:C0004945 Njovera Nonvenereal endemic syphilis disease_ontology DOID:13431 bejel DOID:13431 A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. The infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face. url:http://en.wikipedia.org/wiki/Bejel url:http://www.merckmanuals.com/home/sec17/ch190/ch190d.html A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs. GARD:9536 ICD10CM:A24.0 ICD9CM:024 MESH:D005896 NCI:C34638 SNOMEDCT_US_2023_03_01:4639008 UMLS_CUI:C0017589 Farcy pipes Infection due to Pseudomonas mallei disease_ontology DOID:13444 glanders DOID:13444 A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs. url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/glanders/ ICD10CM:I65.1 ICD9CM:433.0 SNOMEDCT_US_2023_03_01:78658006 UMLS_CUI:C0265098 disease_ontology DOID:13446 basilar artery occlusion DOID:13446 ICD10CM:H18.02 ICD9CM:371.16 SNOMEDCT_US_2023_03_01:21328003 UMLS_CUI:C0155108 Argentous corneal deposits Argyrosis of cornea disease_ontology DOID:13447 corneal argyrosis DOID:13447 ICD10CM:H18.05 ICD9CM:371.13 SNOMEDCT_US_2023_03_01:11293004 UMLS_CUI:C0155106 Posterior corneal pigmentations disease_ontology DOID:13448 posterior corneal pigmentation DOID:13448 A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules. DOID:13981 GARD:9525 ICD10CM:B38 ICD9CM:114 MESH:D003047 NCI:C84642 SNOMEDCT_US_2023_03_01:266218008 UMLS_CUI:C0009186 primary extrapulmonary coccidioidomycosis disease_ontology DOID:13450 coccidioidomycosis DOID:13450 A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules. url:http://www.merck.com/mmhe/sec17/ch197/ch197e.html GARD:12911 ICD10CM:H15.0 ICD9CM:379.00 MESH:D015423 NCI:C119046 SNOMEDCT_US_2023_03_01:155201000 UMLS_CUI:C0036416 disease_ontology DOID:13452 scleritis DOID:13452 ICD10CM:A54.49 ICD9CM:098.52 SNOMEDCT_US_2023_03_01:186928003 UMLS_CUI:C0153218 disease_ontology DOID:13453 gonococcal bursitis DOID:13453 ICD9CM:098.51 SNOMEDCT_US_2023_03_01:186927008 UMLS_CUI:C0343714 Gonococcal synovitis &/or tenosynovitis Gonococcal synovitis and tenosynovitis Gonococcal synovitis or tenosynovitis disease_ontology DOID:13454 gonococcal synovitis DOID:13454 A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions. DOID:13458 Hepatitis in secondary syphilis (disorder) Syphilis of liver (disorder) secondary syphilis of liver secondary syphilis of liver (disorder) secondary syphilitic hepatitis disease_ontology DOID:13459 obsolete secondary syphilitic hepatitis true DOID:13459 A secondary syphilis that involves infection of the liver by the spirochete Treponema pallidum, which results in the formation of hepatic lesions. url:http://www.merck.com/mmpe/sec14/ch194/ch194i.html?qt=syphilis&alt=sh ICD10CM:N36.42 ICD9CM:599.82 SNOMEDCT_US_2023_03_01:16031000119101 UMLS_CUI:C0375381 Intrinsic (urethral) sphincter deficiency [ISD] disease_ontology DOID:13461 urethral intrinsic sphincter deficiency DOID:13461 Genital syphilis Genital syphilis (primary) primary genital syphilis (disorder) primary genital syphilis (disorder) [Ambiguous] disease_ontology DOID:13468 obsolete primary genital syphilis true DOID:13468 secondary syphilis of skin and mucous membrane (disorder) secondary syphilis of skin or mucous membranes secondary syphilis of skin or mucus membranes NOS (disorder) disease_ontology DOID:13469 obsolete secondary cutaneous syphilis true DOID:13469 A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum. primary anal syphilis (disorder) disease_ontology DOID:13470 obsolete primary anal syphilis true DOID:13470 A primary syphilis that is characterized by occurence of painless sores on the anus, which is caused by the spirochete Treponema pallidum. url:http://www.cdc.gov/std/syphilis/STDFact-Syphilis.htm url:http://www.merck.com/mmpe/sec14/ch194/ch194i.html?qt=syphilis&alt=sh Adenopathy due to secondary syphilis secondary syphilitic adenopathy (disorder) secondary syphilitic lymphadenitis disease_ontology DOID:13471 obsolete secondary syphilitic lymphadenitis true DOID:13471 A progressive peripheral pterygium that is characterized by progressive fleshy outpouching of conjunctival growth that has grown to involve the visual axis and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Central pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Central pterygiums progress from pinguecula. ICD10CM:H11.02 ICD9CM:372.43 SNOMEDCT_US_2023_03_01:193882008 UMLS_CUI:C0155156 disease_ontology DOID:13473 central pterygium DOID:13473 A progressive peripheral pterygium that is characterized by progressive fleshy outpouching of conjunctival growth that has grown to involve the visual axis and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Central pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Central pterygiums progress from pinguecula. url:https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/ A conjunctival pterygium that is characterized by progressive (as opposed to quiescent) fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Progressive peripheral pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Progressive peripheral pterygiums progress from pinguecula. ICD9CM:372.42 SNOMEDCT_US_2023_03_01:193881001 UMLS_CUI:C0155155 disease_ontology DOID:13474 progressive peripheral pterygium DOID:13474 A conjunctival pterygium that is characterized by progressive (as opposed to quiescent) fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Progressive peripheral pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Progressive peripheral pterygiums progress from pinguecula. url:https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/ ICD10CM:C32.1 ICD9CM:161.1 NCI:C3545 SNOMEDCT_US_2023_03_01:187842004 UMLS_CUI:C0153484 Ca larynx - supraglottis malignant Supraglottic tumor malignant neoplasm of extrinsic larynx malignant neoplasm of supraglottis malignant tumor of supraglottis supraglottis disease_ontology DOID:13476 supraglottis cancer DOID:13476 A balantitis characterized by white plaques or patches on genitals. ICD9CM:607.81 NCI:C3523 SNOMEDCT_US_2023_03_01:198028006 UMLS_CUI:C0152460 Penile Lichen Sclerosus disease_ontology DOID:13477 balanitis xerotica obliterans MESH:D052798 DOID:13477 A balantitis characterized by white plaques or patches on genitals. url:https://www.ncbi.nlm.nih.gov/pubmed/24295833 disease_ontology DOID:13480 obsolete paranoid type schizophrenia chronic state with acute exacerbation true DOID:13480 An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. GARD:85 ICD10CM:Q77.1 MESH:D013796 MIM:187600 MIM:187601 MIM:273680 NCI:C85187 ORDO:1860 ORDO:2655 ORDO:93274 ORDO:93275 SNOMEDCT_US_2023_03_01:29352008 UMLS_CUI:C0039743 disease_ontology DOID:13481 Xref MGI. OMIM mapping confirmed by DO. [LS]. thanatophoric dysplasia MESH:D013796 DOID:13481 An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. url:http://en.wikipedia.org/wiki/Thanatophoric_dysplasia url:http://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues. GARD:7475 MESH:D016715 MIM:176920 NCI:C85032 SNOMEDCT_US_2023_03_01:394527003 UMLS_CUI:C0085261 Wiedemann's syndrome disease_ontology DOID:13482 OMIM mapping confirmed by DO. [SN]. Proteus syndrome DOID:13482 A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues. url:https://ghr.nlm.nih.gov/condition/proteus-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK99495/ disease_ontology DOID:13484 obsolete disorganized type schizophrenia chronic state true DOID:13484 A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. GARD:6040 ICD10CM:F84.3 ICD9CM:299.1 NCI:C97164 SNOMEDCT_US_2023_03_01:71961003 UMLS_CUI:C0236791 Disintegrative psychosis Heller's syndrome Symbiotic psychosis disease_ontology DOID:13487 childhood disintegrative disease DOID:13487 A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. url:http://en.wikipedia.org/wiki/Heller%27s_syndrome url:http://www.patient.co.uk/doctor/Heller%27s-Syndrome.htm ICD9CM:386.01 SNOMEDCT_US_2023_03_01:194348002 UMLS_CUI:C0155496 Cochleovestibular active Mnire's disease active Meniere's disease, cochleovestibular active cochleovestibular Meniere disease disease_ontology DOID:13490 active cochleovestibular Meniere's disease DOID:13490 ICD9CM:386.03 SNOMEDCT_US_2023_03_01:194350005 UMLS_CUI:C0155498 Vestibular active Mnire's disease active Meniere's disease, vestibular active vestibular Meniere disease disease_ontology DOID:13491 active vestibular Meniere's disease DOID:13491 ICD9CM:386.02 SNOMEDCT_US_2023_03_01:194349005 UMLS_CUI:C0155497 Cochlear active Mnire's disease active Meniere's disease, cochlear active cochlear Meniere disease disease_ontology DOID:13492 active cochlear Meniere's disease DOID:13492 ICD10CM:N34.3 ICD9CM:597.81 SNOMEDCT_US_2023_03_01:31273004 UMLS_CUI:C0156279 disease_ontology DOID:13498 urethral syndrome DOID:13498 ICD10CM:C17.1 ICD9CM:152.1 MESH:D007580 NCI:C170919 SNOMEDCT_US_2023_03_01:93846004 UMLS_CUI:C0153427 malignant neoplasm of jejunum malignant tumor of jejunum disease_ontology DOID:13499 jejunal cancer DOID:13499 A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. NCI:C40275 UMLS_CUI:C1511106 disease_ontology DOID:135 benign vaginal carcinosarcoma DOID:135 A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. url:https://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5 MESH:D010255 NCI:C7488 SNOMEDCT_US_2023_03_01:126675008 UMLS_CUI:C0030470 neoplasm of accessory sinus tumor of Accessory sinus disease_ontology DOID:1350 paranasal sinus benign neoplasm DOID:1350 MESH:D014064 NCI:C35075 SNOMEDCT_US_2023_03_01:81934005 UMLS_CUI:C0040414 Overgrowth of filiform papillae disease_ontology DOID:13500 hairy tongue DOID:13500 A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s). GARD:8549 ICD10CM:Q87.0 MESH:D020331 MIM:157900 NCI:C84893 SNOMEDCT_US_2023_03_01:89444000 UMLS_CUI:C0221060 Mobius syndrome Moebius congenital oculofacial paralysis Oromandibular-limb hypogenesis spectrum disease_ontology DOID:13501 OMIM mapping confirmed by DO. [SN]. Moebius syndrome DOID:13501 A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s). url:https://pubmed.ncbi.nlm.nih.gov/33474647/ url:https://www.ncbi.nlm.nih.gov/articles/PMC4082742/ ICD10CM:N30.3 ICD9CM:595.3 NCI:C123175 SNOMEDCT_US_2023_03_01:155885003 UMLS_CUI:C1261278 disease_ontology DOID:13507 trigonitis DOID:13507 ICD9CM:362.36 UMLS_CUI:C0154842 Venous tributary (branch) occlusion of retina Venous tributary branch occlusion of retina disease_ontology DOID:13514 venous tributary occlusion of retina DOID:13514 1 A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. GARD:7830 ICD10CM:Q85.1 ICD9CM:759.5 MESH:D014402 MIM:PS191100 NCI:C3424 SNOMEDCT_US_2023_03_01:157033002 UMLS_CUI:C0041341 Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis complex Tuberous sclerosis syndrome cerebral sclerosis disease_ontology DOID:13515 OMIM mapping confirmed by DO. [LS]. tuberous sclerosis DOID:13515 A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. url:https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#synonyms DOID:13885 DOID:14206 DOID:14207 DOID:14208 DOID:14209 DOID:14211 DOID:14212 disease_ontology DOID:13518 obsolete stiffness of joint true DOID:13518 MESH:D010254 NCI:C26843 SNOMEDCT_US_2023_03_01:7393007 UMLS_CUI:C0030469 disorder of nasal sinus disease_ontology DOID:1352 paranasal sinus disease DOID:1352 ICD10CM:P39.0 ICD9CM:771.5 SNOMEDCT_US_2023_03_01:3468005 UMLS_CUI:C0158948 disease_ontology DOID:13520 neonatal infective mastitis DOID:13520 A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion. ICD10CM:A33 ICD9CM:771.3 NCI:C116814 SNOMEDCT_US_2023_03_01:43424001 UMLS_CUI:C0343312 neonatal tetanus disease_ontology DOID:13521 tetanus neonatorum DOID:13521 A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion. url:https://en.wikipedia.org/wiki/Neonatal_tetanus A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis. GARD:3283 ICD10CM:B74.3 ICD9CM:125.2 MESH:D008118 NCI:C34784 SNOMEDCT_US_2023_03_01:44250009 UMLS_CUI:C0023968 disease_ontology DOID:13523 loiasis DOID:13523 A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis. url:http://en.wikipedia.org/wiki/Loiasis A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly. Candidal endocarditis (disorder) disease_ontology DOID:13526 obsolete candidal endocarditis true DOID:13526 A candidiasis that results_in inflammation located_in endocardium, has_material_basis_in Candida, which favors previously damaged or prosthetic heart valves. The source is often an intravascular catheter or contaminated equipment used for illicit intravenous drug injection. The illness has_symptom fever, has_symptom murmur, has_symptom congestive heart failure, has_symptom anemia, and has_symptom splenomegaly. url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ url:http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4 A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis. Candidal otitis externa (disorder) Candidal: [otitis externa] or [otomycosis] otomycosis in moniliasis disease_ontology DOID:13527 obsolete candidal otitis externa true DOID:13527 A candidiasis that involves fungal infection of the outer ear canal caused by Candida species. The symptoms include discharge, tinnitus, pruritus, and a feeling of fullness in the ear resulting in scratching and further damage to the epidermis. url:http://en.wikipedia.org/wiki/Moniliasis url:http://en.wikipedia.org/wiki/Otomycosis url:http://www.aafp.org/afp/2001/0301/p927.html url:http://www.blackwellpublishing.com/eccmid14/abstract.asp?id=14641 A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration. gastrointestinal candidiasis (disorder) intestinal moniliasis disease_ontology DOID:13528 obsolete candidal enteritis true DOID:13528 A candidiasis that involves infection of the small intestine caused by Candida species, resulting in ulceration. url:http://emedicine.medscape.com/article/213853-overview url:http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/index.html An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. GARD:4155 ICD10CM:Q78.2 ICD9CM:756.52 MESH:D010022 MIM:PS259700 MIM:PS607634 NCI:C26840 ORDO:667 SNOMEDCT_US_2023_03_01:205500005 UMLS_CUI:C0029454 Albers-Schonberg disease marble bone disease_ontology DOID:13533 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. osteopetrosis DOID:13533 An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. url:http://en.wikipedia.org/wiki/Osteopetrosis A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. ICD9CM:386.33 SNOMEDCT_US_2023_03_01:24817009 UMLS_CUI:C0155506 Suppurative labyrinthitis bacterial labyrinthitis disease_ontology acute suppurative labyrinthitis DOID:13534 purulent labyrinthitis DOID:13534 A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. url:http://www.merck.com/mmpe/sec08/ch086/ch086g.html?qt=irritation%20and%20swelling%20of%20the%20inner%20ear.&alt=sh Mast cell malignancy of intrapelvic lymph nodes (disorder) malignant mast cell tumors involving intrapelvic lymph nodes disease_ontology DOID:13535 obsolete intrapelvic lymph node mast cell malignancy true DOID:13535 NCI:C4552 SNOMEDCT_US_2023_03_01:255008003 UMLS_CUI:C0346366 Corneal Epidermoid carcinoma disease_ontology DOID:13538 cornea squamous cell carcinoma DOID:13538 A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. ICD10CM:E21.3 ICD9CM:252.0 MESH:D006961 MIM:145000 MIM:145001 MIM:610071 NCI:C48259 ORDO:99879 SNOMEDCT_US_2023_03_01:190451000 UMLS_CUI:C0020502 disease_ontology DOID:13543 Xref MGI. hyperparathyroidism DOID:13543 A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. url:http://en.wikipedia.org/wiki/Hyperparathyroidism url:http://ghr.nlm.nih.gov/glossary=hyperparathyroidism An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision. ICD10CM:H40.12 ICD9CM:365.12 MESH:D057066 SNOMEDCT_US_2023_03_01:155124000 UMLS_CUI:C0152136 Normal tension glaucoma disease_ontology DOID:13544 low tension glaucoma DOID:13544 An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision. url:https://eyewiki.aao.org/Primary_Open-Angle_Glaucoma ICD10CM:G21 ICD9CM:332.1 MESH:D010302 NCI:C34899 SNOMEDCT_US_2023_03_01:230292008 UMLS_CUI:C0030569 Symptomatic parkinsonism disorder presenting primarily with parkinsonism secondary parkinsonism disease_ontology DOID:13548 secondary Parkinson disease DOID:13548 A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. Interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. Interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow. ICD10CM:H40.23 ICD9CM:365.21 SNOMEDCT_US_2023_03_01:65460003 UMLS_CUI:C0154945 Angle-closure glaucoma, subacute Intermittent angle-closure glaucoma Prodromal angle closure glaucoma disease_ontology DOID:13549 interval angle-closure glaucoma DOID:13549 A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. Interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. Interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow. url:https://en.wikipedia.org/wiki/Glaucoma url:https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma url:https://www.merckmanuals.com/professional/eye-disorders/glaucoma/angle-closure-glaucoma NCI:C6068 UMLS_CUI:C1335339 Lymphoma of Accessory sinus lymphoma of paranasal sinus disease_ontology DOID:1355 paranasal sinus lymphoma DOID:1355 A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis. MESH:D015812 NCI:C34639 SNOMEDCT_US_2023_03_01:270882001 UMLS_CUI:C0017605 ACG - Angle-closure glaucoma Angle Closure Glaucoma Closed angle glaucoma Narrow cleft glaucoma primary open-angle glaucoma with narrow angles disease_ontology DOID:13550 angle-closure glaucoma DOID:13550 A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis. url:https://en.wikipedia.org/wiki/Glaucoma url:https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma disease_ontology DOID:13554 obsolete gonococcal peritonitis true DOID:13554 Gonococcal infection of pharynx Gonorrhea of pharynx (disorder) gonococcal pharyngitis disease_ontology DOID:13555 obsolete pharyngeal gonorrhea true DOID:13555 Gonococcal blennorrhagica Gonococcal keratosis (blennorrhagica) Gonococcal keratosis (disorder) disease_ontology DOID:13556 obsolete gonococcal keratosis true DOID:13556 Gonococcal Urethritis Gonococcal urethritis (disorder) disease_ontology DOID:13558 obsolete gonococcal urethritis true DOID:13558 disease_ontology DOID:1356 obsolete lymphoma by site true DOID:1356 An uterine fibroid that is located adjacent to the outside of the uterus. ICD10CM:D25.2 ICD9CM:218.2 SNOMEDCT_US_2023_03_01:95280005 UMLS_CUI:C0153995 subserous leiomyoma of uterus disease_ontology DOID:13560 subserous uterine fibroid DOID:13560 An uterine fibroid that is located adjacent to the outside of the uterus. url:https://www.ncbi.nlm.nih.gov/pubmed/22583728 ICD10CM:H47.32 ICD9CM:377.21 MESH:D015594 SNOMEDCT_US_2023_03_01:33629003 UMLS_CUI:C0029128 Drusen of optic disc optic nerve head drusen disease_ontology DOID:13561 optic disk drusen DOID:13561 Glaucoma associated with pupillary block (disorder) secondary angle-closure glaucoma with pupil block disease_ontology DOID:13562 obsolete glaucoma associated with pupillary block true DOID:13562 An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. GARD:5856 ICD10CM:B44 ICD9CM:117.3 MESH:D001228 NCI:C2886 SNOMEDCT_US_2023_03_01:266218008 UMLS_CUI:C0004030 Infection due to Aspergillus disease_ontology DOID:13564 aspergillosis MESH:D001228 DOID:13564 An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. url:http://www.mayoclinic.com/print/aspergillosis/DS00950/METHOD=print&DSECTION=all An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion. MESH:D020953 UMLS_CUI:C0752342 disease_ontology DOID:13565 neuroaspergillosis MESH:D020953 DOID:13565 An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion. url:https://www.merriam-webster.com/dictionary/aspergillosis#medicalDictionary url:https://www.ncbi.nlm.nih.gov/pubmed/17377359 ICD9CM:726.62 SNOMEDCT_US_2023_03_01:202869006 UMLS_CUI:C0158315 disease_ontology DOID:13566 tibial collateral ligament bursitis DOID:13566 DOID:2372 ICD10CM:C31.0 ICD9CM:160.2 NCI:C3540 NCI:C9332 SNOMEDCT_US_2023_03_01:93889000 UMLS_CUI:C0153476 UMLS_CUI:C0740487 malignant neoplasm of antrum malignant tumor of the maxillary sinus disease_ontology DOID:1357 maxillary sinus cancer DOID:1357 disease_ontology DOID:13573 obsolete schizo-affective type schizophrenia chronic state with acute exacerbation true DOID:13573 A senile cataract that is characterized by opacification of the lens cortex, caused by dehydration of lens fibers, and is related to aging. ICD9CM:366.15 SNOMEDCT_US_2023_03_01:193588001 UMLS_CUI:C0154980 disease_ontology DOID:13574 cortical senile cataract DOID:13574 A senile cataract that is characterized by opacification of the lens cortex, caused by dehydration of lens fibers, and is related to aging. url:https://en.wikipedia.org/wiki/Cataract ICD9CM:252.02 UMLS_CUI:C1456268 disease_ontology DOID:13575 non-renal secondary hyperparathyroidism DOID:13575 A neonatal anemia that is characterized by an increased number of arteriovenous anastomoses deep in the placenta. These capillary connections occur in the cotyledon portion of the placenta. Unidirectional flow can occur in these arteriovenous anastomoses and result in shunting of blood towards one twin and away from the other when the arteriovenous anastomoses are unbalanced. ICD10CM:O43.02 MESH:D005330 NCI:C113824 SNOMEDCT_US_2023_03_01:13404009 UMLS_CUI:C2909036 Fetal blood loss from fetal hemorrhage into co-twin Fetal hemorrhage into co-twin Twin to twin transfusion Twin-to-twin blood transfer disease_ontology DOID:13576 twin-to-twin transfusion syndrome DOID:13576 A neonatal anemia that is characterized by an increased number of arteriovenous anastomoses deep in the placenta. These capillary connections occur in the cotyledon portion of the placenta. Unidirectional flow can occur in these arteriovenous anastomoses and result in shunting of blood towards one twin and away from the other when the arteriovenous anastomoses are unbalanced. url:https://www.nationwidechildrens.org/conditions/twin-to-twin-transfusion-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK563133/ Ascorbic acid (vitamin C) deficiency Ascorbic acid defic. Ascorbic acid deficiency Ascorbic acid deficiency (disorder) deficiency of ascorbic acid (disorder) deficiency of vitamin C vitamin C deficiency disease_ontology DOID:13577 obsolete ascorbic acid deficiency true DOID:13577 A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone. ICD10CM:E40 ICD9CM:260 MESH:D007732 SNOMEDCT_US_2023_03_01:154730001 UMLS_CUI:C0022806 Kwashiokor Nutritional edema with dyspigmentation of skin and hair Nutritional oedema with dyspigmentation of skin and/or hair disease_ontology DOID:13579 kwashiorkor DOID:13579 A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone. url:https://www.ncbi.nlm.nih.gov/books/NBK507876/ MESH:D008444 NCI:C3219 SNOMEDCT_US_2023_03_01:126676009 UMLS_CUI:C0024958 neoplasm of maxillary sinus tumor of Maxillofacial sinus disease_ontology DOID:1358 maxillary sinus benign neoplasm DOID:1358 A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum. ICD10CM:K83.1 ICD9CM:576.2 MESH:D002779 NCI:C83006 SNOMEDCT_US_2023_03_01:33688009 UMLS_CUI:C0008370 Obstruction of bile duct bile occlusion disease_ontology DOID:13580 cholestasis DOID:13580 A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum. url:https://en.wikipedia.org/wiki/Cholestasis Magnesium deficiency Magnesium deficiency (disorder) magnesium deficiency disease_ontology DOID:13581 obsolete magnesium deficiency true DOID:13581 K deficiency potassium deficiency disease_ontology DOID:13582 obsolete potassium deficiency true DOID:13582 disorder of fetal nutrition (disorder) disease_ontology DOID:13583 obsolete fetal nutrition disorder true DOID:13583 ICD10CM:M27.3 ICD9CM:526.5 MESH:D004368 SNOMEDCT_US_2023_03_01:251331003 UMLS_CUI:C0013240 Alveolitis of jaw Dry socket Dry tooth socket disease_ontology DOID:13585 alveolar periostitis DOID:13585 A uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year. ICD10CM:N97.2 ICD9CM:628.3 SNOMEDCT_US_2023_03_01:156063002 UMLS_CUI:C0156416 Infertility, female, of uterine origin disease_ontology DOID:13589 female infertility of uterine origin DOID:13589 A uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year. url:https://en.wikipedia.org/wiki/Female_infertility A pre-eclampsia characterized by the presence of seizures. DOID:13592 GARD:6316 ICD10CM:O15 MESH:D004461 NCI:C87167 SNOMEDCT_US_2023_03_01:156111007 UMLS_CUI:C0013537 Eclampsia in puerperium Eclampsia, postpartum Postpartum eclampsia disease_ontology DOID:13593 eclampsia DOID:13593 A pre-eclampsia characterized by the presence of seizures. url:http://ghr.nlm.nih.gov/condition/preeclampsia url:https://www.ncbi.nlm.nih.gov/pubmed/24400024 A vaginal carcinoma that has_material_basis_in connective tissue. DOID:1904 DOID:6172 NCI:C40274 NCI:C40276 NCI:C40278 UMLS_CUI:C1512974 UMLS_CUI:C1519918 UMLS_CUI:C1519924 malignant vaginal mixed epithelial and mesenchymal tumor vaginal malignant mixed Mullerian tumor vaginal malignant mixed mesodermal (mullerian) tumor vaginal mixed epithelial and mesenchymal tumor disease_ontology DOID:136 vaginal carcinosarcoma DOID:136 A vaginal carcinoma that has_material_basis_in connective tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/12588439 ICD10CM:C31.2 ICD9CM:160.4 NCI:C3542 SNOMEDCT_US_2023_03_01:93808006 UMLS_CUI:C0153478 malignant neoplasm of frontal sinus malignant tumor of frontal sinus malignant tumor of the Frontal sinus disease_ontology DOID:1360 frontal sinus cancer DOID:1360 An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea. Enteropathogenic Escherichia coli gastrointestinal tract infection Enteropathogenic Escherichia coli gastrointestinal tract infection (disorder) intestinal infection due to enteropathogenic E. coli disease_ontology DOID:13601 obsolete enteropathogenic Escherichia coli infectious disease true DOID:13601 An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteropathogenic Escherichia coli (EPEC), which has a plasmid-encoded protein referred to as EPEC adherence factor that enables localized adherence of bacteria to intestinal cells and a non fimbrial adhesin designated intimin, which is an outer membrane protein that mediates the final stages of adherence. EPEC induce a profuse watery (sometimes bloody) diarrhea. url:http://www.textbookofbacteriology.net/e.coli_4.html disease_ontology DOID:13602 obsolete acute schizophrenic episode subchronic state true DOID:13602 A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction. MESH:D041781 NCI:C34742 SNOMEDCT_US_2023_03_01:59848001 UMLS_CUI:C0022354 Cholestatic Jaundice Cholestatic jaundice syndrome Obstructive hyperbilirubinemia disease_ontology DOID:13603 obstructive jaundice DOID:13603 A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction. url:https://en.wikipedia.org/wiki/Jaundice disease_ontology DOID:13604 obsolete acute schizophrenic episode chronic state with acute exacerbation true DOID:13604 disease_ontology DOID:13605 obsolete acute schizophrenic episode chronic state true DOID:13605 A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. GARD:12010 ICD10CM:Q44.2 ICD9CM:751.61 MESH:D001656 MIM:210500 NCI:C34421 ORDO:30391 SNOMEDCT_US_2023_03_01:77480004 UMLS_CUI:C0005411 Atresia of bile duct Congenital biliary atresia biliary atresia, congenital disease_ontology DOID:13608 biliary atresia DOID:13608 A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. url:http://en.wikipedia.org/wiki/Biliary_atresia url:http://www.nlm.nih.gov/medlineplus/ency/article/000215.htm NCI:C4419 SNOMEDCT_US_2023_03_01:126678005 UMLS_CUI:C0345672 neoplasm of frontal sinus tumor of the Frontal sinus disease_ontology DOID:1361 frontal sinus benign neoplasm DOID:1361 A cholestasis resulting from causes located_in bile ducts outside the liver. MESH:D001651 NCI:C34420 SNOMEDCT_US_2023_03_01:20719006 UMLS_CUI:C0005398 extrahepatic biliary Stasis extrahepatic obstructive biliary disease disease_ontology DOID:13619 extrahepatic cholestasis DOID:13619 A cholestasis resulting from causes located_in bile ducts outside the liver. url:https://medlineplus.gov/ency/article/000215.htm A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus. NCI:C6849 UMLS_CUI:C1335342 sarcoma of Accessory sinus disease_ontology DOID:1362 paranasal sinus sarcoma DOID:1362 A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus. url:http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient ICD10CM:Q21.12 MESH:D054092 NCI:C34619 SNOMEDCT_US_2023_03_01:268316001 UMLS_CUI:C0016522 Atrial septal defect within oval fossa Defect, Patent or persistent, ostium secundum Ostium secundum type atrial septal defect Persistent ostium secundum foramen ovale patent disease_ontology DOID:13620 patent foramen ovale DOID:13620 A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever. DOID:13621 MESH:D002169 SNOMEDCT_US_2023_03_01:86500004 UMLS_CUI:C0006818 disease_ontology DOID:13622 campylobacteriosis DOID:13622 A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever. url:http://en.wikipedia.org/wiki/Campylobacteriosis url:https://www.health.ny.gov/diseases/communicable/campylobacteriosis/fact_sheet.htm A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea. Staphylococcal enterocolitis (disorder) intestinal infection due to staphylococcus disease_ontology DOID:13623 obsolete staphylococcal enterocolitis true DOID:13623 A staphylococcal infectious disease that involves infection of the intestine caused by staphylococci, which produce toxins. The symptoms include diarrhea, abdominal pain, vomiting and nausea. url:http://www.merck.com/mmpe/sec14/ch171/ch171c.html?qt=staphylococcus&alt=sh#S14_CH171_T001 ICD10CM:H16.13 ICD9CM:370.24 NCI:C118750 SNOMEDCT_US_2023_03_01:1714005 UMLS_CUI:C0155078 disease_ontology DOID:13626 photokeratitis DOID:13626 A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. ICD10CM:D55.0 MESH:D005236 NCI:C34607 SNOMEDCT_US_2023_03_01:154801000 UMLS_CUI:C0015702 disease_ontology DOID:13628 favism DOID:13628 A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. url:http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency ICD9CM:521.32 UMLS_CUI:C1456162 disease_ontology DOID:13629 dentine erosion DOID:13629 ICD10CM:C31.1 ICD9CM:160.3 NCI:C3541 SNOMEDCT_US_2023_03_01:363426009 UMLS_CUI:C0153477 malignant neoplasm of ethmoidal sinus malignant tumor of ethmoid sinus malignant tumor of ethmoidal sinus disease_ontology DOID:1363 ethmoid sinus cancer DOID:1363 A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. GARD:6425 ICD10CM:D61.09 MESH:D005199 MIM:PS227650 NCI:C62505 ORDO:84 SNOMEDCT_US_2023_03_01:30575002 UMLS_CUI:C0015625 Fanconi anaemia Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anaemia Fanconi's anemia disease_ontology DOID:13636 Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. Fanconi anemia DOID:13636 A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. url:http://en.wikipedia.org/wiki/Fanconi_anemia url:http://ghr.nlm.nih.gov/condition/fanconi-anemia NCI:C4416 SNOMEDCT_US_2023_03_01:126677000 UMLS_CUI:C0345668 neoplasm of ethmoidal sinus tumor of ethmoidal sinus disease_ontology DOID:1364 ethmoidal sinus benign neoplasm DOID:1364 A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures. EFO:0004235 ICD9CM:365.52 MESH:D017889 MIM:177650 NCI:C129025 SNOMEDCT_US_2023_03_01:111514006 UMLS_CUI:C0206368 Pseudoexfoliation glaucoma Pseudoexfoliation syndrome disease_ontology DOID:13641 OMIM mapping confirmed by DO. [SN]. exfoliation syndrome MESH:D017889 DOID:13641 A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157521/ Pneumococcal septicemia (disorder) Pneumococcal septicemia [Streptococcus pneumoniae septicemia] Septicaemia due to streptococcus pneumoniae Septicemia due to streptococcus pneumoniae (disorder) Streptococcus pneumoniae septicemia disease_ontology DOID:13643 obsolete pneumococcal septicemia true DOID:13643 Streptococcal septicemia (disorder) Streptococcal septicemia, unspecified (disorder) disease_ontology DOID:13644 obsolete streptococcal septicemia true DOID:13644 DOID:13647 disease_ontology DOID:13648 obsolete paranoid state true DOID:13648 ICD9CM:357.1 SNOMEDCT_US_2023_03_01:193177003 UMLS_CUI:C0154759 disease_ontology DOID:13649 polyneuropathy in collagen vascular disease DOID:13649 DOID:13851 DOID:14229 DOID:14273 DOID:14281 DOID:7102 DOID:9932 Joint disorder NOS, of ankle and foot (disorder) Joint disorder NOS, of multiple sites Joint disorder NOS, of multiple sites (disorder) Joint disorder NOS, of shoulder region Joint disorder NOS, of shoulder region (disorder) Joint disorder NOS, of the forearm Joint disorder NOS, of the forearm (disorder) Joint disorder NOS, of the lower leg Joint disorder NOS, of the lower leg (disorder) Joint disorder NOS, of the pelvic region and thigh Joint disorder NOS, of the pelvic region and thigh (disorder) Joint disorder NOS, of the upper arm Joint disorder NOS, of the upper arm (disorder) Unspecified disorder of ankle and foot joint Unspecified disorder of forearm joint Unspecified disorder of joint of pelvic region and thigh Unspecified disorder of joint of shoulder region Unspecified disorder of lower leg joint Unspecified disorder of upper arm joint Unspecified joint disorder of multiple sites disease_ontology DOID:13650 obsolete joint disorder true DOID:13650 ICD10CM:H04.52 ICD9CM:375.51 SNOMEDCT_US_2023_03_01:28244003 UMLS_CUI:C0155243 disease_ontology DOID:13651 eversion of lacrimal punctum DOID:13651 ICD10CM:H04.56 ICD9CM:375.52 SNOMEDCT_US_2023_03_01:74783009 UMLS_CUI:C0155244 disease_ontology DOID:13653 stenosis of lacrimal punctum DOID:13653 ICD10CM:H04.54 ICD9CM:375.53 SNOMEDCT_US_2023_03_01:81345003 UMLS_CUI:C0155245 Stenosis of lacrimal canaliculi disease_ontology DOID:13654 stenosis of lacrimal passage DOID:13654 ICD10CM:H04.55 ICD9CM:375.56 SNOMEDCT_US_2023_03_01:90056003 UMLS_CUI:C0155248 Stenosis of nasolacrimal duct, acquired Tear duct - acquired stenosis acquired nasolacrimal duct stenosis acquired stenosis of nasolacrimal duct disease_ontology DOID:13655 acquired tear duct stenosis DOID:13655 ICD9CM:251.5 SNOMEDCT_US_2023_03_01:47344007 UMLS_CUI:C0000774 disease_ontology DOID:13656 gastrin secretion abnormality DOID:13656 ICD9CM:598.01 UMLS_CUI:C0156282 disease_ontology DOID:13658 infective urethral stricture DOID:13658 ICD10CM:K62.6 ICD9CM:569.41 SNOMEDCT_US_2023_03_01:197227009 UMLS_CUI:C0400832 anal and rectal ulcer disease_ontology DOID:13662 ulcer of anus and rectum DOID:13662 A purulent acute otitis media with no perforation of the tympanic membrane. acute suppurative otitis media without spontaneous rupture of ear drum acute suppurative otitis media without spontaneous rupture of ear drum (disorder) disease_ontology DOID:13663 obsolete acute suppurative otitis media with tympanic membrane intact true DOID:13663 ICD10CM:G04.02 MESH:D004673 SNOMEDCT_US_2023_03_01:31367003 UMLS_CUI:C0751101 Encephalitis following immunization procedures Postvaccinal encephalomyelitis disease_ontology DOID:13664 post-vaccinal encephalitis DOID:13664 Meningococcal encephalitis (disorder) disease_ontology DOID:13668 obsolete meningococcal encephalitis true DOID:13668 Hypocalcemia and/or hypomagnesemia of newborn (disorder) disease_ontology DOID:13670 obsolete hypocalcemia and hypomagnesemia of newborn true DOID:13670 ICD10CM:H15.03 ICD9CM:379.07 SNOMEDCT_US_2023_03_01:194144007 UMLS_CUI:C0155357 disease_ontology DOID:13676 posterior scleritis DOID:13676 A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis. GARD:7606 MESH:D020083 NCI:C119049 SNOMEDCT_US_2023_03_01:60684003 UMLS_CUI:C0263859 Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome disease_ontology DOID:13677 SAPHO syndrome DOID:13677 A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis. url:https://www.ncbi.nlm.nih.gov/articles/PMC8802951/ disease_ontology DOID:13679 obsolete simple type schizophrenia subchronic state true DOID:13679 disease_ontology DOID:13680 obsolete simple type schizophrenia subchronic state with acute exacerbation true DOID:13680 disease_ontology DOID:13681 obsolete simple type schizophrenia in remission true DOID:13681 disease_ontology DOID:13682 obsolete simple type schizophrenia chronic state true DOID:13682 ICD10CM:K31.5 ICD9CM:537.2 SNOMEDCT_US_2023_03_01:52232007 UMLS_CUI:C0156087 disease_ontology DOID:13687 chronic duodenal ileus DOID:13687 ICD10CM:N42.0 ICD9CM:602.0 NCI:C26936 SNOMEDCT_US_2023_03_01:155934005 UMLS_CUI:C0149525 Prostatic lithiasis Prostatic stone Stone of prostate calculus of prostate disease_ontology DOID:13689 prostate calculus DOID:13689 An acute cystitis that is caused by gonorrhea. ICD9CM:098.11 SNOMEDCT_US_2023_03_01:24868007 UMLS_CUI:C0153191 Gonococcal cystitis acute gonorrhea of bladder disease_ontology DOID:13690 acute gonococcal cystitis DOID:13690 An acute cystitis that is caused by gonorrhea. url:https://www.aafp.org/pubs/afp/issues/2012/1115/p931.html A dermoid cyst that is located_in the skin. NCI:C4632 SNOMEDCT_US_2023_03_01:154630005 UMLS_CUI:C0349502 skin Dermoid disease_ontology DOID:13691 dermoid cyst of skin DOID:13691 A dermoid cyst that is located_in the skin. url:https://www.ncbi.nlm.nih.gov/pubmed/23488469 Ureteric disease disorder of ureter (disorder) disease_ontology DOID:13693 obsolete disorder of ureter true DOID:13693 disease_ontology DOID:13694 obsolete unilateral vesicoureteral reflux with reflux nephropathy true DOID:13694 disease_ontology DOID:13695 obsolete bilateral vesicoureteral reflux with reflux nephropathy true DOID:13695 disease_ontology DOID:13696 obsolete vesicoureteral reflux with reflux nephropathy true DOID:13696 A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. NCI:C6374 UMLS_CUI:C1336943 squamous papilloma of vagina disease_ontology DOID:137 vaginal squamous papilloma DOID:137 A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6374 disease_ontology DOID:13702 obsolete postpartum benign essential hypertension true DOID:13702 ICD10CM:F52.4 ICD9CM:302.75 MESH:D061686 NCI:C94349 SNOMEDCT_US_2023_03_01:123302009 UMLS_CUI:C0033038 disease_ontology DOID:13709 premature ejaculation DOID:13709 An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium. NCI:C27250 UMLS_CUI:C1336902 uterine corpus adenomatoid tumour uterine corpus localised epithelial Mesothelioma uterine corpus localized epithelial Mesothelioma disease_ontology DOID:1371 uterine corpus adenomatoid tumor DOID:1371 An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917104/ A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation. ICD10CM:K00.3 ICD9CM:520.3 MESH:D009050 NCI:C85059 SNOMEDCT_US_2023_03_01:30265004 UMLS_CUI:C0026618 Intrinsic enamel discolouration of fluorosis Mottled teeth Mottling of enamel disease_ontology DOID:13711 dental fluorosis DOID:13711 A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation. url:https://pubmed.ncbi.nlm.nih.gov/21701193/ A tooth disease that is characterized by complete absence of permanent teeth. GARD:5818 ICD10CM:K00.0 ICD9CM:520.0 MESH:D000848 MIM:206780 NCI:C172328 SNOMEDCT_US_2023_03_01:234951001 UMLS_CUI:C0399352 Complete absence of teeth Developmental absence of tooth Total anodontia of permanent and deciduous teeth disease_ontology DOID:13714 anodontia MESH:D000848 DOID:13714 A tooth disease that is characterized by complete absence of permanent teeth. url:https://rarediseases.info.nih.gov/diseases/5818/index A senile cataract that is characterized by full white or brunescent opacification of the lens of the eye such that the red reflex is obscured. It is a later stage of senile cataracts and is caused by a multifactorial etiology related to aging. SNOMEDCT_US_2023_03_01:193590000 UMLS_CUI:C0152257 Total or mature cataract Total, mature senile cataract disease_ontology DOID:13717 mature cataract DOID:13717 A senile cataract that is characterized by full white or brunescent opacification of the lens of the eye such that the red reflex is obscured. It is a later stage of senile cataracts and is caused by a multifactorial etiology related to aging. url:https://en.wikipedia.org/wiki/Cataract A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei. Infection by Schistosoma Mattheii Infection by Schistosoma mattheii (disorder) disease_ontology DOID:13720 obsolete Schistosoma mattheei infectious disease true DOID:13720 A schistosomiasis that involves parasitic infection of domestic animals by Schistosoma mattheei. url:http://en.wikipedia.org/wiki/Schistosomiasis A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure. MESH:D020818 SNOMEDCT_US_2023_03_01:1177012000 UMLS_CUI:C0752191 disease_ontology DOID:13722 neuroschistosomiasis DOID:13722 A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure. url:https://www.ajtmh.org/view/journals/tpmd/76/5/article-p964.xml url:https://www.ncbi.nlm.nih.gov/pubmed/16138195 url:https://wwwnc.cdc.gov/eid/article/12/9/06-0113_article A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis. Infection by Schistosoma Bovis Infection by Schistosoma bovis (disorder) disease_ontology DOID:13723 obsolete Schistosoma bovis infectious disease true DOID:13723 A schistosomiasis that involves parasitic infection of domestic animals caused by a trematode fluke Schistosoma bovis. url:http://www.ncbi.nlm.nih.gov/sites/entrez/10333324 A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing. GARD:10406 ICD10CM:E54 MESH:D012614 MIM:240400 NCI:C35010 SNOMEDCT_US_2023_03_01:267493006 UMLS_CUI:C0036474 disease_ontology DOID:13724 OMIM mapping confirmed by DO. [SN]. scurvy DOID:13724 A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing. url:https://medlineplus.gov/ency/article/000355.htm url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567249/ A thiamine deficiency disease that is characterized by being severe and chronic. GARD:9948 ICD10CM:E51.1 ICD9CM:265.0 MESH:D001602 NCI:C34418 SNOMEDCT_US_2023_03_01:267491008 UMLS_CUI:C0005122 disease_ontology DOID:13725 beriberi MESH:D001602 DOID:13725 A thiamine deficiency disease that is characterized by being severe and chronic. url:https://en.wikipedia.org/wiki/Thiamine_deficiency url:https://medlineplus.gov/ency/article/000339.htm url:https://rarediseases.info.nih.gov/diseases/9948/beriberi An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma. ICDO:8930/0 NCI:C4262 SNOMEDCT_US_2023_03_01:189810002 UMLS_CUI:C0334485 disease_ontology DOID:1373 endometrial stromal nodule DOID:1373 An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma. url:http://www.pathologyoutlines.com/topic/uterusstromalnodule.html url:https://www.ncbi.nlm.nih.gov/pubmed/26221551 disease_ontology DOID:13730 malignant renovascular hypertension DOID:13730 ICD9CM:405.0 SNOMEDCT_US_2023_03_01:89242004 UMLS_CUI:C0155617 disease_ontology DOID:13731 malignant secondary hypertension DOID:13731 ICD9CM:360.02 MESH:D010202 SNOMEDCT_US_2023_03_01:33382000 UMLS_CUI:C0030332 disease_ontology DOID:13732 panophthalmitis DOID:13732 A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV. disease_ontology DOID:13734 obsolete AIDS-related Pneumocystis jirovecii pneumonia true DOID:13734 A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV. url:http://www.nlm.nih.gov/medlineplus/ency/article/000671.htm A uterine disease that is characterized by inflammation. ICD10CM:N71.9 ICD9CM:615.9 SNOMEDCT_US_2023_03_01:28783002 UMLS_CUI:C0269047 Inflammatory disease of the uterus disease_ontology DOID:13736 uterine inflammatory disease DOID:13736 A uterine disease that is characterized by inflammation. url:https://www.ncbi.nlm.nih.gov/pubmed/25153777 ICD10CM:K76.3 ICD9CM:573.4 MESH:D000081011 SNOMEDCT_US_2023_03_01:17890003 UMLS_CUI:C0151731 infarct of liver disease_ontology DOID:13738 hepatic infarction DOID:13738 ICD10CM:K76.1 ICD9CM:573.0 SNOMEDCT_US_2023_03_01:34736002 UMLS_CUI:C0156195 chronic passive congestion of liver disease_ontology DOID:13739 nutmeg liver DOID:13739 NCI:C5145 UMLS_CUI:C1336047 disease_ontology DOID:13742 neurofibroma of spinal cord DOID:13742 A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord. NCI:C4619 SNOMEDCT_US_2023_03_01:189017000 UMLS_CUI:C0347446 Lipoma of spinal cord disease_ontology DOID:13743 spinal cord lipoma DOID:13743 A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord. url:http://neurosurgery.ucla.edu/spinal-cord-lipomas-lipomyelomeningoceles ICD10CM:P39.3 ICD9CM:771.82 SNOMEDCT_US_2023_03_01:12301009 UMLS_CUI:C0235815 urinary tract infection of newborn disease_ontology DOID:1375 neonatal urinary tract infectious disease DOID:1375 An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. Histoplasma duboisii with meningitis (disorder) disease_ontology DOID:13753 obsolete Histoplasma duboisii meningitis true DOID:13753 An African histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. url:http://www.springerlink.com/content/x0p18824442np761/fulltext.pdf An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. Histoplasma capsulatum with meningitis (disorder) disease_ontology DOID:13754 obsolete Histoplasma capsulatum meningitis true DOID:13754 An American histoplasmosis that results_in inflammation located_in meninges, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and results_in_formation_of focal mass lesions, has_symptom headache, has_symptom confusion, has_symptom decreased level of consciousness, has_symptom cranial nerve deficits, and has_symptom seizures. url:http://www.springerlink.com/content/x0p18824442np761/fulltext.pdf An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. Histoplasma duboisii with pericarditis (disorder) disease_ontology DOID:13755 obsolete Histoplasma duboisii pericarditis true DOID:13755 An African histoplasmosis that results_in inflammation located_in pericardium, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom pleural effusions, has_symptom chest pain and has_symptom cough. url:http://emedicine.medscape.com/article/299054-overview url:https://www.ncbi.nlm.nih.gov/pubmed/16924162 ICD10CM:H04.22 ICD9CM:375.22 SNOMEDCT_US_2023_03_01:85042000 UMLS_CUI:C0155234 disease_ontology DOID:13756 epiphora due to insufficient drainage DOID:13756 ICD10CM:H04.2 ICD9CM:375.2 MESH:D007766 NCI:C50552 SNOMEDCT_US_2023_03_01:49393005 UMLS_CUI:C0152227 Epiphora Excessive tear production Watering eye disease_ontology DOID:13757 excessive tearing DOID:13757 disease_ontology DOID:1376 obsolete perinatal infectious disease true DOID:1376 A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin. ICD10CM:B85.3 ICD9CM:132.2 NCI:C35777 SNOMEDCT_US_2023_03_01:71011005 UMLS_CUI:C0030759 Infestation by Phthirus pubis Pediculosis Pubis Pediculus pubis Phthiriasis pubis Phthirus pubis Phthirus/pediculus pubis - pubic lice - crabs crabs disease_ontology DOID:13760 Pthirus pubis infestation DOID:13760 A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin. url:http://www.cdc.gov/lice/pubic/disease.html A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss. disease_ontology DOID:13762 obsolete bovine trypanosomiasis true DOID:13762 A trypanosomiasis that involves infection of cattle caused by Trypanosoma vivax, which is transmitted by tsetse flies. The symptoms include fever, anemia, abortion, loss of appetite, lethargy, and progressive weight loss. url:http://www.ncbi.nlm.nih.gov/sites/entrez/16965857 A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs. Covering disease Infection by Trypanosoma equiperdum (disorder) disease_ontology DOID:13763 obsolete dourine true DOID:13763 A trypanosomiasis that is a chronic, sexually transmitted disease of horses and other equids, caused by the protozoan parasite Trypanosoma equiperdum, which is characterized by swelling of the genitalia, cutaneous plaques and neurological signs. url:http://en.wikipedia.org/wiki/Dourine url:http://www.cfsph.iastate.edu/Factsheets/pdfs/dourine.pdf A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop. ICD10CM:B66.1 ICD9CM:121.1 MESH:D003003 SNOMEDCT_US_2023_03_01:11938002 UMLS_CUI:C0009021 Oriental liver fluke disease disease_ontology DOID:13767 clonorchiasis DOID:13767 A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop. url:http://en.wikipedia.org/wiki/Clonorchiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Clonorchiasis.htm A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and cholangiocarcinoma. GARD:9746 ICD10CM:B66.0 ICD9CM:121.0 MESH:D009889 SNOMEDCT_US_2023_03_01:187124006 UMLS_CUI:C0029106 Infection by Opisthorchis disease_ontology DOID:13768 opisthorchiasis DOID:13768 A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and cholangiocarcinoma. url:http://en.wikipedia.org/wiki/Opisthorchiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. GARD:5740 ICD10CM:E27.1 MESH:D000224 MIM:103230 MIM:240200 NCI:C26689 SNOMEDCT_US_2023_03_01:363732003 UMLS_CUI:C0001403 Addison disease Addison disease, chronic adrenal insufficiency HYPOADRENOCORTICISM, FAMILIAL primary adrenocortical insufficiency primary hypoadrenalism disease_ontology DOID:13774 Addison's disease DOID:13774 An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. url:http://en.wikipedia.org/wiki/Addison%27s_disease A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot. ICD10CM:B07.0 ICD9CM:078.12 NCI:C26913 SNOMEDCT_US_2023_03_01:154363006 UMLS_CUI:C0042548 Verruca plantaris disease_ontology DOID:13775 plantar wart DOID:13775 A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot. url:http://en.wikipedia.org/wiki/Plantar_wart A primary immunodeficiency disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body. GARD:6357 MESH:D004819 MIM:PS226400 NCI:C126877 ORDO:302 SNOMEDCT_US_2023_03_01:19138001 UMLS_CUI:C0014522 disease_ontology DOID:13777 OMIM mapping confirmed by DO. [SN]. epidermodysplasia verruciformis MESH:D004819 DOID:13777 A primary immunodeficiency disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body. url:http://en.wikipedia.org/wiki/Epidermodysplasia_verruciformis A primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted by sexual contact. The infection has symptom painful and soft ulcers. GARD:9522 ICD10CM:A57 ICD9CM:099.0 MESH:D002602 SNOMEDCT_US_2023_03_01:154391003 UMLS_CUI:C0007947 Ulcus molle, skin disease_ontology DOID:13778 chancroid DOID:13778 A primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted by sexual contact. The infection has symptom painful and soft ulcers. url:http://en.wikipedia.org/wiki/Chancroid disease_ontology DOID:1378 obsolete uterine corpus mixed epithelial and mesenchymal tumor true DOID:1378 ICD10CM:M35.7 ICD9CM:728.5 SNOMEDCT_US_2023_03_01:85551004 UMLS_CUI:C0152093 benign joint hypermobility disease_ontology DOID:13781 hypermobility syndrome DOID:13781 ICD10CM:H15.82 ICD9CM:379.14 SNOMEDCT_US_2023_03_01:21946002 UMLS_CUI:C0155362 Anterior staphyloma, localised Anterior staphyloma, localized localised anterior staphyloma disease_ontology DOID:13787 localized anterior staphyloma DOID:13787 ICD10CM:H15.81 ICD9CM:379.13 SNOMEDCT_US_2023_03_01:82146006 UMLS_CUI:C0155361 disease_ontology DOID:13788 equatorial staphyloma DOID:13788 ICD10CM:H15.83 ICD9CM:379.12 SNOMEDCT_US_2023_03_01:87819007 UMLS_CUI:C0155360 disease_ontology DOID:13789 staphyloma posticum DOID:13789 ICD10CM:H73.0 ICD9CM:384.00 SNOMEDCT_US_2023_03_01:297009 UMLS_CUI:C0155460 acute myringitis disease_ontology DOID:13790 acute tympanitis DOID:13790 A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection. ICD10CM:H73.01 ICD9CM:384.01 SNOMEDCT_US_2023_03_01:33528003 UMLS_CUI:C0155461 Bullous myringitis disease_ontology DOID:13791 myringitis bullosa hemorrhagica DOID:13791 A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection. url:https://www.nlm.nih.gov/medlineplus/ency/article/001369.htm ICD10CM:H15.01 ICD9CM:379.03 SNOMEDCT_US_2023_03_01:63454000 UMLS_CUI:C0155353 disease_ontology DOID:13794 anterior scleritis DOID:13794 A female breast cancer that is located_in the center of the breast. ICD10CM:C50.11 ICD9CM:174.1 SNOMEDCT_US_2023_03_01:188151006 UMLS_CUI:C0153549 malignant neoplasm of central part of female breast malignant neoplasm of central portion of female breast disease_ontology DOID:13799 female breast central part cancer DOID:13799 A female breast cancer that is located_in the center of the breast. url:https://www.ncbi.nlm.nih.gov/pubmed/26060127 A vaginal cancer that has_material_basis_in squamous tissue. NCI:C40242 UMLS_CUI:C1519931 disease_ontology DOID:138 vaginal squamous tumor DOID:138 A vaginal cancer that has_material_basis_in squamous tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/23057430 A uterine cancer that is located_in tissues lining the uterus. DOID:5654 EFO:0004230 GARD:11981 ICD10CM:C54.1 KEGG:05213 MESH:D016889 MIM:608089 NCI:C27815 NCI:C3012 SNOMEDCT_US_2023_03_01:123844007 SNOMEDCT_US_2023_03_01:188192002 UMLS_CUI:C0007103 UMLS_CUI:C0014170 endometrial Ca endometrial neoplasm malignant endometrial neoplasm malignant neoplasm of endometrium neoplasm of endometrium primary malignant neoplasm of endometrium tumor of Endometrium disease_ontology DOID:1380 endometrial cancer DOID:1380 A uterine cancer that is located_in tissues lining the uterus. url:http://www.cancer.gov/dictionary?CdrID=444987 A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus. GARD:6777 ICD10CM:A74.0 ICD9CM:077.0 MESH:D003235 SNOMEDCT_US_2023_03_01:111840005 UMLS_CUI:C0009770 Chlamydial conjunctivitis Inclusion blennorrhoea adult inclusion conjunctivitis inclusion blenorrhea disease_ontology Paratrachoma DOID:13800 inclusion conjunctivitis DOID:13800 A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus. url:https://www.visualdx.com/visualdx/diagnosis/inclusion+conjunctivitis?diagnosisId=54853&moduleId=101 A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or 7, serotypes of Mastadenovirus blackbeardi, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache. ICD9CM:077.2 MESH:D000258 NCI:C34924 SNOMEDCT_US_2023_03_01:70385007 UMLS_CUI:C0031351 Adenoviral pharyngoconjunctivitis pharyngo-conjunctival fever disease_ontology DOID:13801 pharyngoconjunctival fever DOID:13801 A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or 7, serotypes of Mastadenovirus blackbeardi, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache. url:http://en.wikipedia.org/wiki/Pharyngoconjunctival_fever ICD10CM:E78.49 MESH:D006950 MIM:144250 NCI:C35637 SNOMEDCT_US_2023_03_01:48190005 UMLS_CUI:C0020474 familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia disease_ontology DOID:13809 OMIM mapping confirmed by DO. [SN]. familial combined hyperlipidemia DOID:13809 A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla. GARD:6462 ICD10CM:L75.2 ICD9CM:705.82 MESH:D005588 NCI:C84716 SNOMEDCT_US_2023_03_01:254682006 UMLS_CUI:C0016632 Fox Fordyce disease disease_ontology DOID:1381 Fox-Fordyce disease DOID:1381 A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla. url:https://www.ncbi.nlm.nih.gov/articles/PMC4746034/ A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. GARD:10416 ICD10CM:E78.01 MESH:D006938 MIM:143890 NCI:C34704 ORDO:406 SNOMEDCT_US_2023_03_01:190772003 UMLS_CUI:C0020445 Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia disease_ontology DOID:13810 Xref MGI. OMIM mapping confirmed by DO. [SN]. familial hypercholesterolemia DOID:13810 A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. url:http://en.wikipedia.org/wiki/Familial_hypercholesterolemia A uterine disease that is characterized by the inability of the uterus to return to its pre-gestational size after pregnancy. ICD9CM:621.1 SNOMEDCT_US_2023_03_01:53518003 UMLS_CUI:C0156370 disease_ontology DOID:13811 chronic subinvolution of uterus DOID:13811 A uterine disease that is characterized by the inability of the uterus to return to its pre-gestational size after pregnancy. url:https://www.ncbi.nlm.nih.gov/pubmed/18856846 A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure. SNOMEDCT_US_2023_03_01:301789000 UMLS_CUI:C0241593 Band of uterus Intrauterine adhesions Intrauterine synechiae disease_ontology DOID:13812 adhesions of uterus DOID:13812 A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure. url:https://www.ncbi.nlm.nih.gov/pubmed/26700995 A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve). ICD10CM:G52.3 ICD9CM:352.5 MESH:D020437 NCI:C26954 SNOMEDCT_US_2023_03_01:24777009 UMLS_CUI:C0152181 disorder of 12th nerve disorder of XII nerve disorder of hypoglossal [12th] nerve disorder of hypoglossal nerve disease_ontology DOID:13814 hypoglossal nerve disease DOID:13814 A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve). url:https://www.merckmanuals.com/home/brain,-spinal-cord,-and-nerve-disorders/cranial-nerve-disorders/hypoglossal-nerve-disorders disease_ontology DOID:13817 obsolete single episode manic disease moderate degree true DOID:13817 disease_ontology DOID:13818 obsolete single episode manic disorder mild degree true DOID:13818 A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. GARD:9545 ICD10CM:A55 ICD9CM:099.1 MESH:D008219 NCI:C26822 SNOMEDCT_US_2023_03_01:266213004 UMLS_CUI:C0024286 Climatic or tropical bubo Durand-Nicolas-Favre disease Lymphogranuloma inguinale Poradenitis inguinale Strumous bubo disease_ontology DOID:13819 lymphogranuloma venereum DOID:13819 A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. url:http://en.wikipedia.org/wiki/Lymphogranuloma_venereum A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts. ICD10CM:L74.3 MESH:D008883 NCI:C34820 SNOMEDCT_US_2023_03_01:63951004 UMLS_CUI:C0026113 eccrine miliaria heat rash sweat rash disease_ontology DOID:1382 miliaria DOID:1382 A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts. url:http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html url:https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html url:https://www.ncbi.nlm.nih.gov/books/NBK537176/ url:https://www.ncbi.nlm.nih.gov/pubmed/30725861 Congenital pneumonia (disorder) Congenital pneumonia NOS (disorder) disease_ontology DOID:13820 obsolete congenital pneumonia true DOID:13820 A cataract resulting from hypocalcemia. ICD9CM:366.42 NCI:C35068 SNOMEDCT_US_2023_03_01:193607003 UMLS_CUI:C0039613 Hypocalcaemic cataract disease_ontology DOID:13822 tetanic cataract DOID:13822 A cataract resulting from hypocalcemia. url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35068 ICD9CM:373.6 SNOMEDCT_US_2023_03_01:193922006 UMLS_CUI:C0155183 Parasitic infestation of eyelid disease_ontology DOID:13823 parasitic eyelid infestation DOID:13823 ICD10CM:H01.02 ICD9CM:373.02 SNOMEDCT_US_2023_03_01:58912008 UMLS_CUI:C0155174 disease_ontology DOID:13825 squamous blepharitis DOID:13825 A skin disease located_in the sweat glands. ICD10CM:L74.9 ICD9CM:705.9 MESH:D013543 SNOMEDCT_US_2023_03_01:88232005 UMLS_CUI:C0038986 disease_ontology DOID:1383 sweat gland disease DOID:1383 A skin disease located_in the sweat glands. url:https://meshb.nlm.nih.gov/record/ui?ui=D013543 url:https://www.ncbi.nlm.nih.gov/pubmed/9448199 GARD:7342 ICD10CM:Q25.0 ICD9CM:747.0 MESH:D004374 MIM:607411 NCI:C84492 SNOMEDCT_US_2023_03_01:156928009 UMLS_CUI:C0013274 Patent ductus Botalli disease_ontology ductus arteriosus, Patent DOID:13832 OMIM mapping confirmed by DO. [SN]. patent ductus arteriosus DOID:13832 disease_ontology DOID:13837 obsolete convergence excess or spasm true DOID:13837 ICD10CM:G25.9 ICD9CM:333.90 SNOMEDCT_US_2023_03_01:192866001 UMLS_CUI:C0477355 disease_ontology DOID:13839 extrapyramidal and movement disease DOID:13839 DOID:12004 Chlamydial infection of lower genitourinary tract (disorder) Chlamydial urethritis (disorder) NGU due to Chlamydia trachomatis Nongonococcal urethritis due to Chlamydia trachomatis (disorder) disease_ontology DOID:1384 obsolete Chlamydia trachomatis urethritis true DOID:1384 Suppressed lactation - delivered (disorder) Suppressed lactation, with delivery, with or without mention of antepartum condition disease_ontology DOID:13844 obsolete suppressed lactation - delivered true DOID:13844 disease_ontology DOID:13845 obsolete suppressed lactation true DOID:13845 Hallux varus (acquired) Hallux varus - acquired acquired hallux varus (disorder) disease_ontology DOID:13850 obsolete acquired hallux varus true DOID:13850 A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS. GARD:5 ICD10CM:E78.6 MESH:D000012 MIM:200100 NCI:C84525 SNOMEDCT_US_2023_03_01:83123000 UMLS_CUI:C0000744 familial hypobetalipoproteinemia microsomal triglyceride transfer protein deficiency disease disease_ontology DOID:1386 OMIM mapping confirmed by DO. [SN]. abetalipoproteinemia MESH:D000012 DOID:1386 A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS. url:http://en.wikipedia.org/wiki/Abetalipoproteinemia A scleritis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Scleroperikeratitis may progress to sclerosing keratitis, which occurs when the inflammation leads to opacification of the anterior corneal stroma and subsequent vision loss. Scleroperikeratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. ICD10CM:H15.04 ICD9CM:379.05 SNOMEDCT_US_2023_03_01:42574005 UMLS_CUI:C0155355 Scleritis with corneal involvement disease_ontology DOID:13861 scleroperikeratitis DOID:13861 A scleritis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Scleroperikeratitis may progress to sclerosing keratitis, which occurs when the inflammation leads to opacification of the anterior corneal stroma and subsequent vision loss. Scleroperikeratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. url:https://www.wikidata.org/wiki/Q18554619 A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening further optic nerve damage and visual field loss. Acute closed-angle glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights. Acute closed-angle glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow. ICD10CM:H40.21 ICD9CM:365.22 SNOMEDCT_US_2023_03_01:30041005 UMLS_CUI:C0154946 acute angle-closure glaucoma disease_ontology DOID:13862 acute closed-angle glaucoma DOID:13862 A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening further optic nerve damage and visual field loss. Acute closed-angle glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights. Acute closed-angle glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow. url:https://en.wikipedia.org/wiki/Glaucoma url:https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma ICD10CM:H49.1 ICD9CM:378.53 MESH:D020432 NCI:C180994 SNOMEDCT_US_2023_03_01:246781001 SNOMEDCT_US_2023_03_01:67883005 UMLS_CUI:C0271375 UMLS_CUI:C0423092 UMLS_CUI:C0751939 Superior oblique muscle innervation disorder Trochlear nerve disorder disorder of trochlear nerve disease_ontology DOID:13864 trochlear nerve disease DOID:13864 MESH:D005156 SNOMEDCT_US_2023_03_01:4151000119102 UMLS_CUI:C0015467 disease_ontology DOID:13865 facial neuralgia DOID:13865 ICD10CM:G52.7 ICD9CM:352.6 SNOMEDCT_US_2023_03_01:78152008 UMLS_CUI:C0154733 Multiple cranial nerve palsies disease_ontology DOID:13866 multiple cranial nerve palsy DOID:13866 A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. ICD9CM:386.32 SNOMEDCT_US_2023_03_01:194364005 UMLS_CUI:C0155505 Circumscribed labyrinthitis disease_ontology DOID:13867 focal labyrinthitis DOID:13867 A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. url:http://books.google.com/books?id=K6IRAAAAYAAJ&pg=PA934&lpg#v=onepage&q=&f=false ICD10CM:F52.0 ICD9CM:302.71 MESH:D020018 NCI:C94337 SNOMEDCT_US_2023_03_01:78889008 UMLS_CUI:C0020594 Lack or loss of sexual desire disease_ontology DOID:13868 hypoactive sexual desire disorder DOID:13868 disease_ontology DOID:13869 obsolete psychosexual dysfunction with male orgasmic disease true DOID:13869 A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood. GARD:8394 ICD10CM:E78.6 ICD9CM:272.5 MESH:D007009 SNOMEDCT_US_2023_03_01:363140000 UMLS_CUI:C0020623 Hypolipoproteinaemia disease_ontology Lipoprotein deficiencies DOID:1387 hypolipoproteinemia DOID:1387 A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood. url:https://en.wikipedia.org/wiki/Hypolipoproteinemia url:https://rarediseases.info.nih.gov/diseases/8394/hypolipoproteinemia A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31. GARD:7731 ICD10CM:E78.6 MESH:D013631 MIM:205400 NCI:C85182 SNOMEDCT_US_2023_03_01:190783007 UMLS_CUI:C0039292 familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency disease_ontology DOID:1388 OMIM mapping confirmed by DO. [LS]. Tangier disease MESH:D013631 DOID:1388 A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31. url:https://pubmed.ncbi.nlm.nih.gov/10431236/ ICD10CM:I49.5 MESH:D012804 MIM:163800 MIM:608567 NCI:C62244 ORDO:166282 SNOMEDCT_US_2023_03_01:266307005 UMLS_CUI:C0037052 sinus node infection disease_ontology DOID:13884 Xref MGI. sick sinus syndrome MESH:D012804 DOID:13884 Residual schizophrenia, chronic state chronic residual schizophrenia (disorder) disease_ontology DOID:13887 obsolete residual chronic schizophrenia true DOID:13887 A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain. ICD10CM:A69.22 MESH:D011115 NCI:C26951 SNOMEDCT_US_2023_03_01:193166009 UMLS_CUI:C0152025 disease_ontology DOID:1389 polyneuropathy DOID:1389 A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain. url:https://en.wikipedia.org/wiki/Polyneuropathy url:https://www.virginiamason.org/polyneuropathy An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen. ICD10CM:J67.2 ICD9CM:495.2 MESH:D001716 NCI:C34425 SNOMEDCT_US_2023_03_01:69339004 UMLS_CUI:C0005592 Avian hypersensitivity Pneumonitis Bird-fancier's lung Bird-fanciers' lung bird breeder's lung bird fancier lung pigeon breeder's lung poultry worker's lung disease_ontology DOID:13891 bird fancier's lung DOID:13891 An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1841781/pdf/brmedj02140-0025.pdf ICDO:8052/0 MESH:D010212 NCI:C3712 SNOMEDCT_US_2023_03_01:63451008 UMLS_CUI:C0205874 Epidermoid papilloma disease_ontology DOID:139 squamous cell papilloma DOID:139 A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats. MESH:D006995 SNOMEDCT_US_2023_03_01:190786004 UMLS_CUI:C0020597 Hypo-beta-lipoproteinemia disease_ontology DOID:1390 hypobetalipoproteinemia DOID:1390 A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats. url:https://en.wikipedia.org/wiki/Hypobetalipoproteinemia url:https://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia url:https://www.ncbi.nlm.nih.gov/pubmed/15818469 A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft. ICD10CM:B36.2 ICD9CM:111.2 MESH:D010854 SNOMEDCT_US_2023_03_01:266218008 SNOMEDCT_US_2023_03_01:35586003 UMLS_CUI:C0031898 UMLS_CUI:C0040249 Tinea blanca disease_ontology DOID:13902 Adding additional UMLS CUI. UMLS has piedra, black piedra and white piedra combined. DO has these as distinct diseases. white piedra DOID:13902 A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft. url:https://pubmed.ncbi.nlm.nih.gov/35118127/ malignant Pleural Effusion malignant pleural effusion neoplastic pleural effusion (disorder) disease_ontology DOID:13906 obsolete malignant pleural effusion true DOID:13906 ICD9CM:368.52 MESH:D003117 MIM:303800 ORDO:319698 SNOMEDCT_US_2023_03_01:246674000 UMLS_CUI:C0155016 Deutan defect Deuteranopia Reduced red-green discrimination disease_ontology DOID:13909 Xref MGI. red-green color blindness DOID:13909 ICD10CM:E78.6 MESH:D007863 MIM:245900 NCI:C84813 SNOMEDCT_US_2023_03_01:238091006 UMLS_CUI:C0023195 LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency disease_ontology DOID:1391 OMIM mapping confirmed by DO. [SN]. Norum disease DOID:1391 ICD9CM:368.51 MESH:D003117 MIM:303900 SNOMEDCT_US_2023_03_01:51445007 UMLS_CUI:C0155015 Protan defect Protanopia disease_ontology DOID:13910 red color blindness DOID:13910 A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. ICD10CM:H53.51 ICD9CM:368.54 MESH:D003117 NCI:C84528 ORDO:49382 SNOMEDCT_US_2023_03_01:56852002 UMLS_CUI:C0152200 ACHM Monochromatism disease_ontology DOID:13911 achromatopsia DOID:13911 A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. url:http://en.wikipedia.org/wiki/Achromatopsia url:http://www.ncbi.nlm.nih.gov/books/NBK1418/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=49382 url:http://www.sciencedirect.com/science/article/pii/S0161642009010008 ACHM ICD10CM:H53.52 ICD9CM:368.55 MESH:D003117 NCI:C118712 SNOMEDCT_US_2023_03_01:71676008 UMLS_CUI:C0155018 acquired color vision deficiencies acquired color vision deficiency acquired colour blindness acquired colour vision deficiencies acquired colour vision deficiency disease_ontology DOID:13912 acquired color blindness DOID:13912 ICD9CM:353.1 SNOMEDCT_US_2023_03_01:4062006 UMLS_CUI:C0154735 Lumbosacral plexus lesions disease_ontology DOID:13913 lumbosacral plexus lesion DOID:13913 A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin. ICD10CM:F45.0 ICD9CM:300.81 MESH:D013001 SNOMEDCT_US_2023_03_01:60368009 UMLS_CUI:C0520482 Briquet's disorder Somatisation disorder disease_ontology Polysomatising disorder DOID:13918 somatization disorder DOID:13918 A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin. url:http://en.wikipedia.org/wiki/Somatization_disorder ICD10CM:H52.21 ICD9CM:367.22 SNOMEDCT_US_2023_03_01:47099006 UMLS_CUI:C0152194 disease_ontology DOID:13919 irregular astigmatism DOID:13919 ICD9CM:377.24 MESH:C562401 MIM:177800 SNOMEDCT_US_2023_03_01:57138009 UMLS_CUI:C0155300 disease_ontology DOID:1392 OMIM mapping confirmed by DO. [SN]. pseudopapilledema DOID:1392 NCI:C27106 SNOMEDCT_US_2023_03_01:235601001 UMLS_CUI:C0341108 disease_ontology DOID:13921 bacterial esophagitis DOID:13921 An esophagitis characterized by inflammation involving eosinophils located_in esophagus. EFO:0004232 ICD10CM:K20.0 ICD9CM:530.13 MESH:D057765 MIM:610247 MIM:613412 NCI:C27105 ORDO:73247 SNOMEDCT_US_2023_03_01:235599003 UMLS_CUI:C0341106 disease_ontology DOID:13922 Xref MGI. OMIM mapping confirmed by DO. [SN]. eosinophilic esophagitis DOID:13922 An esophagitis characterized by inflammation involving eosinophils located_in esophagus. url:http://en.wikipedia.org/wiki/Eosinophilic_esophagitis acute paranoid reaction disease_ontology DOID:13923 obsolete acute psychogenic paranoid psychosis true DOID:13923 DOID:2274 GARD:5736 ICD10CM:A69.1 ICD9CM:101 MESH:D005892 NCI:C34637 SNOMEDCT_US_2023_03_01:171847006 SNOMEDCT_US_2023_03_01:707792000 UMLS_CUI:C0017575 UMLS_CUI:C1527368 ANUG Angina - Vincents Vincent angina Vincent's angina Vincent's angina - pharyngitis Vincent's disease Vincent's infection, any site acute necrotising ulcerative gingivitis acute necrotising ulcerative gingivostomatitis acute necrotizing ulcerative gingivitis acute necrotizing ulcerative gingivostomatitis acute ulceromembranous gingivitis early acute necrotising gingivitis trench mouth disease_ontology DOID:13924 necrotizing ulcerative gingivitis DOID:13924 ANUG MESH:D007767 NCI:C34757 SNOMEDCT_US_2023_03_01:95769009 UMLS_CUI:C0022906 Blocked lacrimal canaliculus Obstruction of lacrimal canaliculus Obstruction of lacrimal ducts disease_ontology DOID:13929 lacrimal duct obstruction DOID:13929 An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image. ICD10CM:H47.9 NCI:C35342 SNOMEDCT_US_2023_03_01:54767005 UMLS_CUI:C0155287 disease_ontology DOID:1393 visual pathway disease DOID:1393 An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35342 ICD10CM:G51.0 MESH:D005158 NCI:C26769 SNOMEDCT_US_2023_03_01:90039006 UMLS_CUI:C0015469 Facial Palsy disease_ontology DOID:13934 facial paralysis DOID:13934 A female reproductive system disease that is characterized by the absence of menstruation. ICD10CM:N91.2 ICD9CM:626.0 MESH:D000568 NCI:C61443 SNOMEDCT_US_2023_03_01:156034000 UMLS_CUI:C0002453 absence of menstruation amenia disease_ontology DOID:13938 amenorrhea MESH:D000568 DOID:13938 A female reproductive system disease that is characterized by the absence of menstruation. url:https://www.ncbi.nlm.nih.gov/pubmed/23939500 A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer. ICD9CM:120.0 MESH:D012553 NCI:C39294 SNOMEDCT_US_2023_03_01:60979006 UMLS_CUI:C0276926 Schistosoma Hematobium Infection Schistosoma haematobium Schistosoma hematobium infectious disease Schistosomiasis due to schistosoma haematobium Schistosomiasis of bladder Vesical schistosomiasis bladder Schistosomiasis cystitis with bilharziasis disease_ontology Schistosoma haematobium infection DOID:1394 urinary schistosomiasis DOID:1394 A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer. url:http://en.wikipedia.org/wiki/Schistosoma_haematobium url:http://www.dpd.cdc.gov/dpdx/HTML/Schistosomiasis.htm A peripheral vertigo that is characterized by episodic vertigo followed by gait imbalance and oscillopsia with profound bilateral vestibular loss despite normal hearing. GARD:5915 ICD9CM:386.11 MESH:D065635 MIM:193007 MIM:613106 SNOMEDCT_US_2023_03_01:111541001 UMLS_CUI:C0155502 benign paroxysmal positional nystagmus benign recurrent vertigo disease_ontology DOID:13941 Xref MGI. OMIM mapping confirmed by DO. [SN]. benign paroxysmal positional vertigo DOID:13941 A peripheral vertigo that is characterized by episodic vertigo followed by gait imbalance and oscillopsia with profound bilateral vestibular loss despite normal hearing. url:https://pubmed.ncbi.nlm.nih.gov/8290084/ ICD9CM:098.17 SNOMEDCT_US_2023_03_01:45377007 UMLS_CUI:C0275654 Gonococcal salpingitis, specified as acute disease_ontology DOID:13942 acute gonococcal salpingitis DOID:13942 ICD9CM:098.12 SNOMEDCT_US_2023_03_01:111806005 UMLS_CUI:C0153192 Gonococcal prostatitis disease_ontology DOID:13943 acute gonococcal prostatitis DOID:13943 A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment. GARD:1049 ICD10CM:I67.850 MESH:D046589 MIM:600142 MIM:PS125310 NCI:C84606 ORDO:136 SNOMEDCT_US_2023_03_01:390723008 UMLS_CUI:C0751587 cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy hereditary multi-infarct dementia disease_ontology DOID:13945 CADASIL DOID:13945 A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment. url:https://www.ncbi.nlm.nih.gov/pubmed/10476042 url:https://www.ncbi.nlm.nih.gov/pubmed/8878478 ICD10CM:N32.0 ICD9CM:596.0 MESH:D001748 NCI:C79541 SNOMEDCT_US_2023_03_01:197859007 UMLS_CUI:C0005694 Obstruction of bladder neck or vesicourethral orifice disease_ontology DOID:13948 bladder neck obstruction DOID:13948 GARD:6787 MESH:D018856 NCI:C27189 SNOMEDCT_US_2023_03_01:197834003 UMLS_CUI:C0282488 ulcerative cystitis disease_ontology DOID:13949 interstitial cystitis DOID:13949 A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria. GARD:9687 ICD9CM:120.8 SNOMEDCT_US_2023_03_01:187116001 UMLS_CUI:C0029827 disease_ontology DOID:1395 schistosomiasis DOID:1395 A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria. url:http://www.nlm.nih.gov/medlineplus/ency/article/001321.htm url:https://www.merriam-webster.com/dictionary/schistosomiasis#medicalDictionary An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures. NCI:C40164 UMLS_CUI:C1519850 disease_ontology DOID:13951 uterine corpus epithelioid leiomyoma DOID:13951 An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures. url:http://www.pathologyoutlines.com/topic/uterusleiomyomavariants.html#epithelioid A uterine fibroid that is characterized by the presence of intramural tearing. NCI:C40172 UMLS_CUI:C1519847 disease_ontology DOID:13953 uterine corpus dissecting leiomyoma DOID:13953 A uterine fibroid that is characterized by the presence of intramural tearing. url:http://www.turkjpath.org/text.php3?doi=10.5146/tjpath.2011.01085 url:https://www.ncbi.nlm.nih.gov/pubmed/23370645 disease_ontology DOID:13954 obsolete mitotically active variant uterine corpus leiomyoma true DOID:13954 An uterine fibroid that is located within the myometrium. ICD10CM:D25.1 ICD9CM:218.1 SNOMEDCT_US_2023_03_01:93616000 UMLS_CUI:C0153994 Intramural leiomyoma of uterus disease_ontology DOID:13955 uterus interstitial leiomyoma DOID:13955 An uterine fibroid that is located within the myometrium. url:http://www.pathologyoutlines.com/topic/uterusleiomyomamyxoid.html An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity. NCI:C40166 UMLS_CUI:C1519860 disease_ontology DOID:13956 uterine corpus myxoid leiomyoma DOID:13956 An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity. url:http://www.pathologyoutlines.com/topic/uterusleiomyomamyxoid.html An uterine fibroid that is characterized by the presence of adipocytes. NCI:C40168 UMLS_CUI:C1519856 disease_ontology DOID:13957 uterine corpus lipoleiomyoma DOID:13957 An uterine fibroid that is characterized by the presence of adipocytes. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299967/ An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells. NCI:C40167 UMLS_CUI:C1519853 uterine Corpus Symplastic leiomyoma disease_ontology DOID:13958 uterine corpus bizarre leiomyoma DOID:13958 An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells. url:http://www.pathologyoutlines.com/topic/softtissuebizarreleiomyoma.html Focal retinitis and retinochoroiditis, peripheral peripheral focal retinitis AND retinochoroiditis (disorder) disease_ontology DOID:13962 obsolete peripheral focal retinitis and retinochoroiditis true DOID:13962 A senile cataract that is characterized by opacification of the lens nucleus and caused by changes related to aging. ICD9CM:366.16 SNOMEDCT_US_2023_03_01:193589009 UMLS_CUI:C0271166 Senile nuclear cataract Senile nuclear sclerosis disease_ontology DOID:13963 nuclear senile cataract DOID:13963 A senile cataract that is characterized by opacification of the lens nucleus and caused by changes related to aging. url:https://en.wikipedia.org/wiki/Cataract A senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. It is the late stage of senile cataracts and is caused by a multifactorial etiology related to aging. ICD9CM:366.18 SNOMEDCT_US_2023_03_01:247065006 UMLS_CUI:C0152258 hypermature cataract disease_ontology DOID:13964 Morgagni cataract DOID:13964 A senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. It is the late stage of senile cataracts and is caused by a multifactorial etiology related to aging. url:https://eyewiki.aao.org/Morgagnian_Cataract disease_ontology DOID:13969 obsolete schizo-affective type schizophrenia subchronic state with acute exacerbation true DOID:13969 ICD10CM:H05.1 ICD9CM:376.1 SNOMEDCT_US_2023_03_01:44729001 UMLS_CUI:C0155261 chronic inflammation of orbit disease_ontology DOID:1397 chronic orbital inflammation DOID:1397 disease_ontology DOID:13970 obsolete schizo-affective type schizophrenia chronic state true DOID:13970 A female breast cancer that is located_in the lower-outer qudrant of the breast. ICD10CM:C50.51 ICD9CM:174.5 SNOMEDCT_US_2023_03_01:188155002 UMLS_CUI:C0153553 malignant neoplasm of lower-outer quadrant of female breast disease_ontology DOID:13972 female breast lower-outer quadrant cancer DOID:13972 A female breast cancer that is located_in the lower-outer qudrant of the breast. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/ metastatic tumor to the Brainstem disease_ontology DOID:13975 obsolete metastatic tumor to the brain stem true DOID:13975 ICD9CM:530.11 MESH:D004942 SNOMEDCT_US_2023_03_01:57643001 UMLS_CUI:C0014869 Peptic reflux disease Reflux oesophagitis reflux esophagitis disease_ontology DOID:13976 peptic esophagitis DOID:13976 A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules. DOID:13978 chronic pulmonary coccidioidomycosis desert fever disease_ontology DOID:13979 obsolete primary pulmonary coccidioidomycosis true DOID:13979 A coccidioidomycosis that results_in pneumonia located_in lungs, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom pleuritic chest pain, has_symptom respiratory failure, has_symptom pleural effusion, and results_in_formation_of pulmonary nodules. url:http://emedicine.medscape.com/article/297976-overview A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. DOID:11681 DOID:13509 DOID:1396 DOID:1494 DOID:2114 DOID:2293 DOID:2922 DOID:3564 DOID:4191 DOID:886 DOID:948 DOID:9639 DOID:9644 ICD10CM:H44.12 ICD9CM:360.13 NCI:C34587 SNOMEDCT_US_2023_03_01:57100005 UMLS_CUI:C0014238 Ectoparasitic disease parasitemia disease_ontology DOID:1398 parasitic infectious disease DOID:1398 A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4071 A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus. disease_ontology DOID:13980 obsolete coccidioidal meningitis true DOID:13980 A coccidioidomycosis that results_in inflammation located_in meninges, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom headache, has_symptom alterations in sensorium, and has_symptom obstructing hydrocephalus. url:http://emedicine.medscape.com/article/297976-overview ICD9CM:375.13 SNOMEDCT_US_2023_03_01:193978007 UMLS_CUI:C0155229 disease_ontology DOID:1399 primary lacrimal atrophy DOID:1399 An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. GARD:6118 ICD10CM:Q74.0 MESH:D002973 MIM:119600 MIM:216330 NCI:C75020 ORDO:1452 SNOMEDCT_US_2023_03_01:65976001 UMLS_CUI:C0008928 Marie-Sainton Disease cleidocranial dysostosis disease_ontology DOID:13994 Xref MGI. OMIM mapping confirmed by DO. [SN]. cleidocranial dysplasia DOID:13994 An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. url:http://en.wikipedia.org/wiki/Cleidocranial_dysostosis url:http://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia url:http://www.healthline.com/galecontent/cleidocranial-dysplasia-1 url:http://www.nlm.nih.gov/medlineplus/ency/article/001589.htm url:https://www.faces-cranio.org/cleidocranial disease_ontology DOID:13995 obsolete secondary malignant neoplasm to the small Intestine true DOID:13995 NCI:C4007 SNOMEDCT_US_2023_03_01:449074003 UMLS_CUI:C0278805 small intestinal Lymphoma disease_ontology DOID:13996 small intestine lymphoma DOID:13996 ICD10CM:H10.53 ICD9CM:372.22 SNOMEDCT_US_2023_03_01:193872007 UMLS_CUI:C0155150 disease_ontology DOID:13999 contact blepharoconjunctivitis DOID:13999 An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye. ICD10CM:H04 ICD9CM:375 MESH:D007766 NCI:C26809 SNOMEDCT_US_2023_03_01:267740009 UMLS_CUI:C0022904 disease_ontology DOID:1400 lacrimal apparatus disease DOID:1400 An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26809 ICD10CM:H21.1 ICD9CM:364.42 SNOMEDCT_US_2023_03_01:51995000 UMLS_CUI:C0154916 disease_ontology DOID:14000 rubeosis iridis DOID:14000 Diabetes mellitus juvenile type, uncontrolled, with peripheral circulatory disorder Diabetes mellitus type I [juvenile type], uncontrolled, with peripheral circulatory disorder disease_ontology DOID:14001 obsolete diabetes mellitus insulin dependent type, uncontrolled, with peripheral circulatory disorder true DOID:14001 An aortic aneurysm that is located_in the thoracic aorta. EFO:0004282 MESH:D017545 MIM:132900 MIM:607086 MIM:607087 MIM:611788 MIM:613780 MIM:615436 NCI:C27001 ORDO:91387 SNOMEDCT_US_2023_03_01:155421001 UMLS_CUI:C0162872 disease_ontology DOID:14004 Xref MGI. OMIM mapping confirmed by DO. [SN]. thoracic aortic aneurysm DOID:14004 An aortic aneurysm that is located_in the thoracic aorta. url:http://en.wikipedia.org/wiki/Aortic_aneurysm url:http://en.wikipedia.org/wiki/Thoracic_aortic_aneurysm ICD9CM:442.83 SNOMEDCT_US_2023_03_01:70405009 UMLS_CUI:C0155747 disease_ontology DOID:14006 splenic artery aneurysm DOID:14006 ICD10CM:K70.3 ICD9CM:571.2 MESH:D008104 NCI:C34782 SNOMEDCT_US_2023_03_01:420054005 UMLS_CUI:C0023891 Alcoholic Cirrhosis Alcoholic cirrhosis of liver Laennec's cirrhosis Laennec's cirrhosis, alcoholic Portal cirrhosis disease_ontology DOID:14018 alcoholic liver cirrhosis DOID:14018 A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly. ICD10CM:A23.3 ICD9CM:023.3 SNOMEDCT_US_2023_03_01:428174001 UMLS_CUI:C0494040 disease_ontology DOID:14019 Brucella canis brucellosis DOID:14019 A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly. url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm url:https://www.ncbi.nlm.nih.gov/pubmed/1172954 DOID:1401 Failure of lactation - delivered Failure of lactation - delivered (disorder) Failure of lactation, with delivery, with or without mention of antepartum condition disease_ontology DOID:1402 obsolete agalactia true DOID:1402 A cartilage disease that is characterized by localized tenderness and non-suppurative swelling, typically associated with the 2nd or 3rd costal cartilages unilaterally caused by inflammation of one or more of the costal cartilages and that has symptom anterior chest pain. ICD10CM:M94.0 ICD9CM:733.6 MESH:D013991 SNOMEDCT_US_2023_03_01:156848001 UMLS_CUI:C0040213 Costalchondritis Costochondral junction syndrome Costochondritis Slipping rib syndrome Tietze's disease disease_ontology Tietze syndrome DOID:14021 Tietze's syndrome DOID:14021 A cartilage disease that is characterized by localized tenderness and non-suppurative swelling, typically associated with the 2nd or 3rd costal cartilages unilaterally caused by inflammation of one or more of the costal cartilages and that has symptom anterior chest pain. url:https://en.wikipedia.org/wiki/Tietze_syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK564363/ url:https://www.ucsfhealth.org/medical-tests/slipping-rib-syndrome ICD10CM:M89.0 ICD9CM:733.7 SNOMEDCT_US_2023_03_01:203490000 UMLS_CUI:C0205930 disease_ontology DOID:14022 algoneurodystrophy DOID:14022 A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis_in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines. ICD10CM:D52 ICD9CM:281.2 SNOMEDCT_US_2023_03_01:85649008 UMLS_CUI:C0151482 Folate deficiency anaemia Folate deficiency anemia Folate-deficiency anaemia Folate-deficiency anemia Folate-deficient megaloblastic anaemia folic acid deficiency anaemia disease_ontology DOID:14026 folic acid deficiency anemia DOID:14026 A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis_in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines. url:https://medlineplus.gov/ency/article/000551.htm SNOMEDCT_US_2023_03_01:93948004 UMLS_CUI:C0153495 primary malignant neoplasm of parietal pleura disease_ontology DOID:14032 malignant parietal pleura tumor DOID:14032 SNOMEDCT_US_2023_03_01:94140004 UMLS_CUI:C0153496 primary malignant neoplasm of visceral pleura disease_ontology DOID:14033 malignant visceral pleura tumor DOID:14033 An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. ICD9CM:747.22 SNOMEDCT_US_2023_03_01:204431007 UMLS_CUI:C0345010 Atresia and stenosis of aorta Congenital atresia and stenosis of aorta disease_ontology DOID:14037 aorta atresia DOID:14037 An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. url:https://www.ncbi.nlm.nih.gov/pubmed/25956755 (Sexual precocity NOS) or (puberty - precocious) Precocious puberty Precocious puberty (disorder) Precocious sexual development (disorder) Precocious true puberty Premature puberty Sexual precocity NOS precocious puberty disease_ontology DOID:14038 obsolete precocious puberty true DOID:14038 A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation. GARD:7411 MESH:D016878 NCI:C80303 SNOMEDCT_US_2023_03_01:79268002 UMLS_CUI:C0085404 disease_ontology DOID:14039 POEMS syndrome DOID:14039 A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation. url:https://rarediseases.info.nih.gov/diseases/7411/poems-syndrome ICD10CM:H40.24 ICD9CM:365.24 SNOMEDCT_US_2023_03_01:55129006 UMLS_CUI:C0154948 Residual stage of angle-closure glaucoma disease_ontology DOID:1404 residual stage angle-closure glaucoma DOID:1404 An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. ICD10CM:E31.0 MESH:D016884 NCI:C84576 SNOMEDCT_US_2023_03_01:41864002 UMLS_CUI:C0085409 Autoimmune polyglandular failure Lloyd's syndrome autoimmune polyendocrinopathy disease_ontology DOID:14040 autoimmune polyendocrine syndrome DOID:14040 An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. url:https://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome sn:IEDB disease_ontology DOID:14041 obsolete endocrine tuberculosis true DOID:14041 A bipolar disorder that is characterized by at least one manic or mixed episode. ICD9CM:296.50 SNOMEDCT_US_2023_03_01:49468007 UMLS_CUI:C0236773 disease_ontology DOID:14042 bipolar I disorder DOID:14042 A bipolar disorder that is characterized by at least one manic or mixed episode. url:http://en.wikipedia.org/wiki/Bipolar_I ICD9CM:775.2 MESH:D020941 SNOMEDCT_US_2023_03_01:82178003 UMLS_CUI:C0158982 disease_ontology DOID:14043 neonatal myasthenia gravis DOID:14043 acute Rheumatic Pericarditis acute Rheumatic fever with pericarditis acute rheumatic pericarditis acute rheumatic pericarditis (disorder) disease_ontology DOID:14044 obsolete rheumatic pericarditis true DOID:14044 Infant of a diabetic mother syndrome syndrome of infant of diabetic mother (disorder) disease_ontology DOID:14045 obsolete syndrome of infant of a diabetic mother true DOID:14045 A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Curvularia hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals. GARD:12803 MESH:D060446 Infection by dematiacious fungi phaehyphomycosis disease_ontology DOID:14049 phaeohyphomycosis DOID:14049 A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Curvularia hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals. url:http://www.thelancet.com/journals/laninf/article/PIIS1473-3099%2809%2970131-8/abstract url:https://drfungus.org/knowledge-base/phaeohyphomycosis/ url:https://www.adelaide.edu.au/mycology/mycoses/subcutaneous-mycoses#phaeohyphomycosis An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. ICD10CM:H40.2 ICD9CM:365.2 SNOMEDCT_US_2023_03_01:193544008 UMLS_CUI:C0017606 primary Angle Closure Glaucoma disease_ontology DOID:1405 primary angle-closure glaucoma DOID:1405 An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. url:https://en.wikipedia.org/wiki/Glaucoma url:https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma DOID:14057 Endocarditis-RH chronic Rheumatic disease of endocardium, valve unspecified Rheumatic endocarditis (disorder) Rheumatic endocarditis NOS Rheumatic endocarditis NOS (disorder) acute Rheumatic Endocarditis acute rheumatic endocarditis acute rheumatic endocarditis (disorder) rheumatic endocarditis disease_ontology DOID:14056 obsolete rheumatic endocarditis true DOID:14056 A female reproductive organ cancer that is located_in the paraurethral glands. ICD10CM:C68.1 ICD9CM:189.4 SNOMEDCT_US_2023_03_01:93944002 UMLS_CUI:C0153621 malignant tumor of paraurethral gland malignant tumor of the Paraurethral gland disease_ontology DOID:14059 paraurethral gland cancer DOID:14059 A female reproductive organ cancer that is located_in the paraurethral glands. url:https://www.ncbi.nlm.nih.gov/pubmed/5874817 MESH:D007500 NCI:C50621 SNOMEDCT_US_2023_03_01:65074000 UMLS_CUI:C0022081 disease_ontology DOID:1406 iritis DOID:1406 disease_ontology DOID:14063 obsolete acute glomerulonephritis with lesion of rapidly progressive glomerulonephritis true DOID:14063 NCI:C35443 SNOMEDCT_US_2023_03_01:68544003 UMLS_CUI:C0403414 Post-Streptococcal Glomerulonephritis disease_ontology DOID:14064 acute poststreptococcal glomerulonephritis DOID:14064 NCI:C35587 SNOMEDCT_US_2023_03_01:197585004 UMLS_CUI:C0341689 acute Diffuse Glomerulonephritis disease_ontology DOID:14066 acute diffuse nephritis DOID:14066 A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. ICD10CM:B50 ICD9CM:084.0 MESH:D016778 NCI:C34798 SNOMEDCT_US_2023_03_01:62676009 UMLS_CUI:C0024535 Malaria fever, subtertian falciparum malaria malignant tertian fever disease_ontology DOID:14067 Plasmodium falciparum malaria DOID:14067 A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. url:https://www.merriam-webster.com/dictionary/falciparum%20malaria#medicalDictionary A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. ICD9CM:084.8 MESH:D001742 NCI:C34426 SNOMEDCT_US_2023_03_01:56625005 UMLS_CUI:C0005681 Black water fever Hemoglobinuric, malaria Malarial Hemoglobinuria disease_ontology DOID:14068 blackwater fever DOID:14068 A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. url:http://en.wikipedia.org/wiki/Blackwater_fever url:https://www.merriam-webster.com/dictionary/blackwater%20fever#medicalDictionary A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species. ICD10CM:B50.0 MESH:D016779 NCI:C128373 SNOMEDCT_US_2023_03_01:53622003 UMLS_CUI:C0024534 Malarial encephalitis disease_ontology DOID:14069 cerebral malaria DOID:14069 A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species. url:http://en.wikipedia.org/wiki/Malaria GARD:10941 MESH:D014606 NCI:C35109 SNOMEDCT_US_2023_03_01:193500005 UMLS_CUI:C0042165 disease_ontology DOID:1407 anterior uveitis DOID:1407 ICD9CM:379.54 SNOMEDCT_US_2023_03_01:46888001 UMLS_CUI:C0155379 Nystagmus associated with disorder of the vestibular system disease_ontology DOID:14070 vestibular nystagmus DOID:14070 disease_ontology DOID:14072 obsolete neoplastic pregnancy complications true DOID:14072 ICD10CM:G51.1 ICD9CM:351.1 MESH:D005155 SNOMEDCT_US_2023_03_01:155071009 UMLS_CUI:C0017407 disease_ontology DOID:14075 geniculate ganglionitis DOID:14075 A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3. GARD:2790 ICD10CM:E26.02 ICD9CM:255.11 MESH:C563177 MIM:103900 NCI:C127161 SNOMEDCT_US_2023_03_01:703232003 UMLS_CUI:C3838731 GRA GRS familial hyperaldosteronism type I glucocorticoid-suppressible hyperaldosteronism disease_ontology DOID:14080 OMIM mapping confirmed by DO. [SN]. glucocorticoid-remediable aldosteronism DOID:14080 A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3. url:https://pubmed.ncbi.nlm.nih.gov/10852446/ url:https://pubmed.ncbi.nlm.nih.gov/1731223/ GRA GRS A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. ICD9CM:386.34 SNOMEDCT_US_2023_03_01:3344003 UMLS_CUI:C0155507 disease_ontology DOID:14081 toxic labyrinthitis DOID:14081 A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. url:http://books.google.com/books?id=FB0Asxq2KSQC&pg=PA120&lpg#v=onepage&q=&f=false url:https://www.ncbi.nlm.nih.gov/pubmed/16448876 A bone inflammation disease that results_in inflammation located_in epicondyle. DOID:14162 ICD10CM:M77.1 ICD9CM:726.32 MESH:D013716 NCI:C34589 NCI:C35067 SNOMEDCT_US_2023_03_01:156659008 SNOMEDCT_US_2023_03_01:268088003 UMLS_CUI:C0014488 UMLS_CUI:C0039516 Lateral epicondylitis andrel epicondylitis archer's elbow golfer's elbow hockey elbow medial epicondylitis disease_ontology shooter's elbow tennis elbow DOID:14087 epicondylitis DOID:14087 A bone inflammation disease that results_in inflammation located_in epicondyle. url:http://en.wikipedia.org/wiki/Epicondylitis ICD9CM:521.08 MESH:D017213 SNOMEDCT_US_2023_03_01:30512007 UMLS_CUI:C0162644 Cementum caries Dental caries of root surface disease_ontology DOID:14089 root caries DOID:14089 Heartwater (disorder) disease_ontology DOID:14090 obsolete heartwater disease true DOID:14090 An atherosclerosis of the renal artery. ICD10CM:I70.1 ICD9CM:440.1 SNOMEDCT_US_2023_03_01:45281005 UMLS_CUI:C0155734 Atherosclerosis of renal artery renal atherosclerosis disease_ontology DOID:14092 renal artery atheroma DOID:14092 An atherosclerosis of the renal artery. url:https://www.ncbi.nlm.nih.gov/books/NBK218744/ A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. DOID:0050039 DOID:0050040 DOID:0050044 DOID:0050045 ICD10CM:A77.1 ICD9CM:082.1 MESH:D001907 SNOMEDCT_US_2023_03_01:186779000 UMLS_CUI:C0006060 African tick typhus Rickettsia conorii spotted fever South African tick-bite fever kenya tick typhus marseilles fever disease_ontology Boutonneuse disease Conor and Bruch's disease Kenya fever Kenyan tick typhus Mediterranean spotted fever Mediterranean tick fever DOID:14095 boutonneuse fever DOID:14095 A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. url:http://en.wikipedia.org/wiki/Boutonneuse_fever url:http://www.cdc.gov/otherspottedfever/index.html ICD9CM:606.8 SNOMEDCT_US_2023_03_01:198011008 UMLS_CUI:C0021360 Infertility due to extratesticular causes disease_ontology DOID:14096 infertility due to extratesticular cause DOID:14096 ICD9CM:537.0 SNOMEDCT_US_2023_03_01:13483000 UMLS_CUI:C0700588 acquired hypertrophic pyloric stenosis adult hypertrophic pyloric stenosis disease_ontology DOID:14099 acquired gastric outlet stenosis DOID:14099 ICD10CM:M65.4 ICD9CM:727.04 MESH:D053684 SNOMEDCT_US_2023_03_01:202905002 UMLS_CUI:C0149870 Radial styloid tenosynovitis Tenosynovitis, de Quervain's disease_ontology DOID:14107 De Quervain disease DOID:14107 disease_ontology DOID:14108 obsolete syphilitic peritonitis true DOID:14108 A large intestine cancer that is located_in the anus. DOID:12240 GARD:9300 ICD10CM:C21.0 ICD10CM:C21.1 ICD9CM:154.2 ICD9CM:154.3 NCI:C7379 SNOMEDCT_US_2023_03_01:93669004 SNOMEDCT_US_2023_03_01:93676009 UMLS_CUI:C0153445 UMLS_CUI:C0153446 anal cancer malignant anal tumor disease_ontology DOID:14110 anus cancer DOID:14110 A large intestine cancer that is located_in the anus. url:http://en.wikipedia.org/wiki/Anus ICD10CM:K14.2 ICD9CM:529.2 SNOMEDCT_US_2023_03_01:7522008 UMLS_CUI:C0155963 Persistent tuberculum impar disease_ontology DOID:14111 median rhomboid glossitis DOID:14111 Congenital adhesions of tongue Congenital adhesions of tongue (disorder) adhesions,tongue-congenital disease_ontology DOID:14114 obsolete congenital adhesion of tongue true DOID:14114 A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities. ICD10CM:A48.3 ICD9CM:040.82 MESH:D012772 NCI:C35498 SNOMEDCT_US_2023_03_01:18504008 UMLS_CUI:C0600327 TSS toxic shock disease_ontology DOID:14115 toxic shock syndrome DOID:14115 A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities. url:http://en.wikipedia.org/wiki/Toxic_shock_syndrome TSS DOID:3137 GARD:6957 MESH:D008069 MIM:151800 NCI:C4392 SNOMEDCT_US_2023_03_01:238902007 SNOMEDCT_US_2023_03_01:65245004 UMLS_CUI:C0023804 UMLS_CUI:C0028253 LIPODYSTROPHY, CEPHALOTHORACIC LIPOMATOSIS, FAMILIAL BENIGN CERVICAL Launois-Bensaude's lipomatosis Madelung's neck cervical Symmetrical Lipomatosis multiple symmetrical lipomatosis disease_ontology DOID:14116 OMIM mapping confirmed by DO. [SN]. multiple symmetric lipomatosis DOID:14116 LDL hyperlipoproteinemia Pure hypercholesterolaemia Pure hypercholesterolemia Pure hypercholesterolemia (disorder) Pure hypercholesterolemia NOS (disorder) hyperlipidemia, group A (disorder) disease_ontology DOID:14117 obsolete group A hyperlipidemia true DOID:14117 A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. GARD:12241 ICD10CM:E78.3 ICD9CM:272.3 MESH:D008072 MIM:238600 NCI:C84771 ORDO:309015 SNOMEDCT_US_2023_03_01:34171006 UMLS_CUI:C0023817 Fredrickson type I hyperlipoproteinemia Fredrickson type I lipaemia familial LPL deficiency familial hyperlipoproteinemia type I hypercholesterinaemic xanthomatosis hyperchylomicronemia mixed hyperglyceridemia disease_ontology DOID:14118 OMIM mapping confirmed by DO. [SN]. familial lipoprotein lipase deficiency DOID:14118 A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. url:https://pubmed.ncbi.nlm.nih.gov/35415234/ url:https://rarediseases.org/rare-diseases/familial-lipoprotein-lipase-deficiency/ A urinary system disease which consists of the presence of bacteria in urine. ICD10CM:R82.71 MEDDRA:10004056 MESH:D001437 SNOMEDCT_US_2023_03_01:61373006 UMLS_CUI:C0004659 disease_ontology DOID:1412 bacteriuria DOID:1412 A urinary system disease which consists of the presence of bacteria in urine. url:http://en.wikipedia.org/wiki/Bacteriuria MESH:D018438 UMLS_CUI:C0242645 disease_ontology DOID:14121 blue toe syndrome DOID:14121 NCI:C5826 SNOMEDCT_US_2023_03_01:126972009 UMLS_CUI:C1263898 VIth Cranial nerve tumors neoplasm of abducens nerve disease_ontology DOID:14125 abducens nerve neoplasm DOID:14125 A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the anterolateral vaginal walls. ICD10CM:N81.12 ICD9CM:618.02 SNOMEDCT_US_2023_03_01:441891001 UMLS_CUI:C2711750 disease_ontology DOID:14130 lateral cystocele DOID:14130 A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the anterolateral vaginal walls. url:https://www.ncbi.nlm.nih.gov/pubmed/26337427 A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the midline anterior vaginal wall. ICD10CM:N81.11 ICD9CM:618.01 SNOMEDCT_US_2023_03_01:423633003 UMLS_CUI:C1456248 disease_ontology DOID:14131 midline cystocele DOID:14131 A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the midline anterior vaginal wall. url:https://www.ncbi.nlm.nih.gov/pubmed/26337427 A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery. ICD9CM:620.6 SNOMEDCT_US_2023_03_01:69186005 UMLS_CUI:C0152079 Broad ligament laceration syndrome disease_ontology DOID:14133 Masters-Allen syndrome DOID:14133 A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery. url:https://www.ajog.org/article/S0002-9378(05)02620-7/abstract NCI:C5601 SNOMEDCT_US_2023_03_01:1153356005 UMLS_CUI:C1332268 Lymphoma of anus disease_ontology DOID:14139 anus lymphoma DOID:14139 An ovarian disease that is characterized by irregular or absent ovulation. ICD9CM:256.3 SNOMEDCT_US_2023_03_01:267399006 UMLS_CUI:C0029697 disease_ontology DOID:1414 ovarian dysfunction DOID:1414 An ovarian disease that is characterized by irregular or absent ovulation. url:https://www.ncbi.nlm.nih.gov/pubmed/26132932 ICD9CM:521.33 UMLS_CUI:C1456163 disease_ontology DOID:14140 pulp erosion DOID:14140 NCI:C4639 SNOMEDCT_US_2023_03_01:276821000 UMLS_CUI:C0349538 anal melanoma malignant melanoma of anus disease_ontology DOID:14145 malignant anus melanoma DOID:14145 An ureteral disease this is characterized by the formation of stoney concentrations in the ureter. ICD10CM:N20.1 ICD9CM:592.1 MESH:D053039 NCI:C114696 SNOMEDCT_US_2023_03_01:31054009 UMLS_CUI:C0041952 Ureteric calculus Ureteric stone calculus of ureter disease_ontology DOID:14146 ureterolithiasis DOID:14146 An ureteral disease this is characterized by the formation of stoney concentrations in the ureter. url:https://www.jucm.com/ureterolithiasis-leaving-stone-unturned/ url:https://www.ncbi.nlm.nih.gov/pubmed/28513524 GARD:6556 MESH:D015799 MIM:258870 NCI:C84744 SNOMEDCT_US_2023_03_01:314467007 UMLS_CUI:C0018425 Gyrate atrophy of the choroid and/or retina Ornithinemia with gyrate atrophy gyrate atrophy of the retina disease_ontology DOID:1415 OMIM mapping by NeuroDevNet. [LS]. gyrate atrophy DOID:1415 A spinal cancer that is located_in the spinal cord and derives_from lymphocytes. NCI:C5157 UMLS_CUI:C1336044 Lymphoma of the Spinal Cord disease_ontology spinal cord cancer DOID:14150 spinal cord lymphoma DOID:14150 A spinal cancer that is located_in the spinal cord and derives_from lymphocytes. url:http://www.virtualmedicalcentre.com/diseases.asp?did=583 NCI:C5158 UMLS_CUI:C1336045 melanoma of the Spinal Cord disease_ontology DOID:14151 spinal cord melanoma DOID:14151 NCI:C5152 UMLS_CUI:C1336049 sarcoma of the Spinal Cord disease_ontology DOID:14152 spinal cord sarcoma DOID:14152 ICD9CM:377.32 SNOMEDCT_US_2023_03_01:51604006 UMLS_CUI:C0155301 Retrobulbar neuritis disease_ontology DOID:14155 acute retrobulbar neuritis DOID:14155 disease_ontology DOID:14157 obsolete malnutrition of mild degree true DOID:14157 ICD10CM:G91.1 ICD9CM:331.4 MESH:D006849 NCI:C116347 SNOMEDCT_US_2023_03_01:230746009 UMLS_CUI:C0549423 disease_ontology DOID:14159 obstructive hydrocephalus DOID:14159 secondary malignant neoplasm of anus (disorder) disease_ontology DOID:14163 obsolete metastatic malignant tumor to the anus true DOID:14163 ICD9CM:386.52 SNOMEDCT_US_2023_03_01:194373002 UMLS_CUI:C0155516 hyperactive bilateral labyrinthine dysfunction hyperactive labyrinth, bilateral disease_ontology DOID:14165 bilateral hyperactive labyrinth DOID:14165 An uveal disease that is located_in the choroid. ICD10CM:H31.9 ICD9CM:363.9 MESH:D015862 NCI:C34468 SNOMEDCT_US_2023_03_01:193480005 UMLS_CUI:C0008521 disease_ontology DOID:1417 choroid disease DOID:1417 An uveal disease that is located_in the choroid. url:https://www.vagelos.columbia.edu/departments-centers/ophthalmology/education/digital-reference-ophthalmology/vitreous-and-retina/retina-choroid-disorders ICD10CM:I09.81 ICD9CM:398.91 SNOMEDCT_US_2023_03_01:82523003 UMLS_CUI:C0155582 Congestive rheumatic heart failure Rheumatic heart failure disease_ontology DOID:14172 rheumatic congestive heart failure DOID:14172 ICDO:9506/1 MESH:D018306 NCI:C3791 SNOMEDCT_US_2023_03_01:302832007 UMLS_CUI:C0206719 Neurolipocytoma disease_ontology DOID:14174 central neurocytoma DOID:14174 GARD:7855 ICD10CM:Q85.83 MESH:D006623 MIM:193300 NCI:C3105 SNOMEDCT_US_2023_03_01:46659004 UMLS_CUI:C0019562 Hippel Lindau syndrome von Hippel-Lindau syndrome disease_ontology DOID:14175 OMIM mapping confirmed by DO. [LS]. von Hippel-Lindau disease DOID:14175 A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions. GARD:10371 ICD10CM:D80.3 MESH:D017099 NCI:C27142 SNOMEDCT_US_2023_03_01:190981001 UMLS_CUI:C0162539 Immunoglobin G subclass deficiency Selective IgG Immunodeficiency Selective Immunoglobulin G Subclass deficiency Selective deficiency of IgG Selective immunoglobulin G deficiency disease_ontology DOID:14176 selective IgG deficiency disease DOID:14176 A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions. url:https://www.ncbi.nlm.nih.gov/pubmed/26846287 ICD9CM:279.04 SNOMEDCT_US_2023_03_01:190983003 UMLS_CUI:C1457897 Congenital hypogammaglobulinaemia disease_ontology DOID:14177 congenital hypogammaglobulinemia DOID:14177 disease_ontology DOID:14178 obsolete immunodeficiency with increased IgM true DOID:14178 An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. MESH:C537409 MIM:300755 NCI:C3822 ORDO:47 SNOMEDCT_US_2023_03_01:65880007 UMLS_CUI:C0221026 BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia disease_ontology DOID:14179 OMIM mapping confirmed by DO. [SN]. X-linked agammaglobulinemia DOID:14179 An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. url:http://en.wikipedia.org/wiki/X-linked_agammaglobulinemia url:http://www.nlm.nih.gov/medlineplus/ency/article/001307.htm ICD10CM:M75.3 ICD9CM:726.11 SNOMEDCT_US_2023_03_01:239957000 UMLS_CUI:C0158303 disease_ontology DOID:14181 calcific tendinitis DOID:14181 disease_ontology DOID:14182 obsolete metastatic tumor to the choroid true DOID:14182 ICD10CM:G62.1 ICD9CM:357.5 MESH:D020269 NCI:C26926 SNOMEDCT_US_2023_03_01:7916009 UMLS_CUI:C0085677 Alcohol-related polyneuropathy Alcoholic polyneuropathy disease_ontology DOID:14183 alcoholic neuropathy MESH:D020269 DOID:14183 ICD10CM:G62.0 ICD9CM:357.6 SNOMEDCT_US_2023_03_01:7339009 UMLS_CUI:C0154762 disease_ontology DOID:14184 polyneuropathy due to drug DOID:14184 A connective tissue disease characterized by restriction of both active and passive range of motion located_in the scapulohumeral joint and has_symptom pain and has_symptom restricted range of motion. ICD10CM:M75.0 ICD9CM:726.0 MESH:D002062 SNOMEDCT_US_2023_03_01:156664007 UMLS_CUI:C0311223 Adhesive capsulitis of shoulder adhesions-capsulitis,shoulder disease_ontology DOID:14188 frozen shoulder DOID:14188 A connective tissue disease characterized by restriction of both active and passive range of motion located_in the scapulohumeral joint and has_symptom pain and has_symptom restricted range of motion. url:https://www.mayoclinic.org/diseases-conditions/frozen-shoulder/symptoms-causes/syc-20372684 disease_ontology DOID:1419 obsolete residual schizophrenia subchronic state with acute exacerbation true DOID:1419 Induced psychotic disorder Shared paranoid disorder Shared psychotic disorder disease_ontology DOID:14190 obsolete shared paranoid disease true DOID:14190 Paranoid state, simple disease_ontology DOID:14191 obsolete simple paranoid state true DOID:14191 ICD9CM:726.12 SNOMEDCT_US_2023_03_01:202840002 UMLS_CUI:C0158304 disease_ontology DOID:14192 bicipital tenosynovitis DOID:14192 ICD10CM:H27.13 ICD9CM:379.34 SNOMEDCT_US_2023_03_01:194161005 UMLS_CUI:C0155373 disease_ontology DOID:14199 posterior dislocation of lens DOID:14199 Diplopia (disorder) Double vision diplopia disease_ontology DOID:14200 obsolete diplopia true DOID:14200 adult onset dermatomyositis disease_ontology DOID:14202 adult dermatomyositis DOID:14202 ICD10CM:M33.0 MESH:D003882 NCI:C27576 SNOMEDCT_US_2023_03_01:1212005 UMLS_CUI:C0263666 Juvenile dermatomyositis childhood Dermatomyositis disease_ontology DOID:14203 childhood type dermatomyositis DOID:14203 A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12. DOID:14763 GARD:6734 ICD10CM:E83.39 MESH:C562440 MESH:D007014 NCI:C26798 ORDO:436 SNOMEDCT_US_2023_03_01:30174008 SNOMEDCT_US_2023_03_01:70848009 UMLS_CUI:C0020630 UMLS_CUI:C0220743 deficiency of alkaline phosphatase disease_ontology DOID:14213 OMIM mapping confirmed by DO. [SN]. hypophosphatasia DOID:14213 A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12. url:https://ghr.nlm.nih.gov/condition/hypophosphatasia disease_ontology DOID:14215 obsolete hyperamylasemia true DOID:14215 A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. GARD:19 MESH:D054067 MIM:274270 NCI:C84672 SNOMEDCT_US_2023_03_01:238016000 UMLS_CUI:C1959620 UMLS_CUI:C3495551 Dihydrouracil Dehydrogenase deficiency familial pyrimidinaemia thymine-uracilurea disease_ontology DOID:14218 dihydropyrimidine dehydrogenase deficiency DOID:14218 A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. url:http://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine. GARD:7552 ICD10CM:N25.89 MESH:D000141 MIM:179830 MIM:267200 MIM:602722 NCI:C28129 SNOMEDCT_US_2023_03_01:1776003 UMLS_CUI:C0001126 disease_ontology DOID:14219 Xref MGI. renal tubular acidosis DOID:14219 A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine. url:http://en.wikipedia.org/wiki/Renal_tubular_acidosis url:http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/renal_tubular_acidosis_rta.html An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events. EFO:0000195 GARD:9226 ICD10CM:E88.81 ICD9CM:277.7 MESH:D024821 MIM:605552 NCI:C84442 SNOMEDCT_US_2023_03_01:190394009 UMLS_CUI:C0524620 dysmetabolic syndrome X metabolic syndrome X disease_ontology DOID:14221 OMIM mapping confirmed by DO. [SN]. abdominal obesity-metabolic syndrome 1 DOID:14221 An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events. url:https://en.wikipedia.org/wiki/Metabolic_syndrome A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions. GARD:7231 ICD10CM:E70.29 MESH:D009794 NCI:C84938 SNOMEDCT_US_2023_03_01:21924005 UMLS_CUI:C0028817 disease_ontology DOID:14223 ochronosis DOID:14223 A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions. url:https://en.wikipedia.org/wiki/Ochronosis url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681189/ NCI:C35314 SNOMEDCT_US_2023_03_01:81089005 UMLS_CUI:C0264324 Calcification of trachea disease_ontology DOID:14224 tracheal calcification DOID:14224 A frontal sinusitis which lasts for less than 4 weeks. ICD10CM:J01.1 ICD9CM:461.1 SNOMEDCT_US_2023_03_01:155500003 UMLS_CUI:C0155805 disease_ontology DOID:14225 acute frontal sinusitis DOID:14225 A frontal sinusitis which lasts for less than 4 weeks. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html A male infertility disease characterized by the absence of any measurable level of sperm in semen. EFO:0000279 ICD10CM:N46.0 ICD9CM:606.0 MESH:D053713 NCI:C80076 ORDO:217034 SNOMEDCT_US_2023_03_01:145008007 UMLS_CUI:C0004509 disease_ontology DOID:14227 Xref MGI. azoospermia MESH:D053713 DOID:14227 A male infertility disease characterized by the absence of any measurable level of sperm in semen. url:http://en.wikipedia.org/wiki/Azoospermia url:http://ghr.nlm.nih.gov/glossary=azoospermia A male fertility issue defined as a low sperm concentration in the ejaculate. ICD10CM:N46.1 ICD9CM:606.1 MESH:D009845 NCI:C34860 UMLS_CUI:C0028960 disease_ontology DOID:14228 oligospermia DOID:14228 A male fertility issue defined as a low sperm concentration in the ejaculate. url:https://en.wikipedia.org/wiki/Oligospermia A scleral disease that is characterized by a painless severe necrotizing scleritis where the sclera is white, avascular, and thin. The choroid can become exposed leading to infarction and necrosis of related areas; the sclera can also thin such that the dark uvea protrudes through the front of the eye, forming a staphyloma which has_symptom loss of vision and appearance of a dark bulge. Scleromalacia perforans is usually caused by a rare complication of autoimmune disease like rheumatoid arthritis. ICD10CM:H15.05 ICD9CM:379.04 SNOMEDCT_US_2023_03_01:26664005 UMLS_CUI:C0155354 disease_ontology DOID:14230 scleromalacia perforans DOID:14230 A scleral disease that is characterized by a painless severe necrotizing scleritis where the sclera is white, avascular, and thin. The choroid can become exposed leading to infarction and necrosis of related areas; the sclera can also thin such that the dark uvea protrudes through the front of the eye, forming a staphyloma which has_symptom loss of vision and appearance of a dark bulge. Scleromalacia perforans is usually caused by a rare complication of autoimmune disease like rheumatoid arthritis. url:https://eyewiki.aao.org/Scleritis url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987604/ ICD10CM:H05.81 ICD9CM:376.81 SNOMEDCT_US_2023_03_01:31021007 UMLS_CUI:C0155285 disease_ontology DOID:14233 orbital cyst DOID:14233 A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting. DOID:0050071 ICD9CM:021.1 ICD9CM:021.8 SNOMEDCT_US_2023_03_01:186292001 SNOMEDCT_US_2023_03_01:186298002 UMLS_CUI:C0029835 UMLS_CUI:C0152942 Enteric tularemia intestinal tularaemia disease_ontology DOID:14239 gastrointestinal tularemia DOID:14239 A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting. url:https://www.cdc.gov/tularemia/index.html A perichondritis of auricle which is persistent and long-lasting. ICD9CM:380.02 SNOMEDCT_US_2023_03_01:194195009 UMLS_CUI:C0155391 chronic pinna perichondritis disease_ontology DOID:14243 chronic perichondritis of pinna DOID:14243 A perichondritis of auricle which is persistent and long-lasting. url:http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm ICD10CM:H04.21 ICD9CM:375.21 SNOMEDCT_US_2023_03_01:193984005 UMLS_CUI:C0155233 disease_ontology DOID:14244 epiphora due to excess lacrimation DOID:14244 ICD10CM:H35.35 ICD9CM:362.53 SNOMEDCT_US_2023_03_01:14046000 UMLS_CUI:C0154850 Cystoid macular degeneration of retina disease_ontology DOID:14245 cystoid macular retinal degeneration DOID:14245 A suppurative otitis media which is persistent and long-lasting. ICD10CM:H66.3 ICD9CM:382.3 NCI:C128386 SNOMEDCT_US_2023_03_01:38394007 UMLS_CUI:C0271454 chronic suppurative otitis media disease_ontology DOID:14247 chronic purulent otitis media DOID:14247 A suppurative otitis media which is persistent and long-lasting. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. ICD10CM:H66.2 ICD9CM:382.2 SNOMEDCT_US_2023_03_01:41954005 UMLS_CUI:C0155441 chronic atticoantral suppurative otitis media disease_ontology DOID:14248 chronic atticoantral disease DOID:14248 A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. url:http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA114&lpg#v=onepage&q=&f=false NCI:C35666 SNOMEDCT_US_2023_03_01:266627003 UMLS_CUI:C0034223 Ureter abscess disease_ontology DOID:1425 pyoureter DOID:1425 A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. GARD:10247 ICD10CM:Q90 ICD9CM:758.0 MESH:D004314 MIM:190685 NCI:C2993 ORDO:870 SNOMEDCT_US_2023_03_01:41040004 UMLS_CUI:C0013080 Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome disease_ontology DOID:14250 OMIM mapping confirmed by DO. [SN]. Down syndrome DOID:14250 A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. url:http://en.wikipedia.org/wiki/Down_syndrome url:http://ghr.nlm.nih.gov/condition/down-syndrome url:http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx url:http://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome url:https://research.nhgri.nih.gov/atlas/condition/trisomy-21 ICD10CM:H35.51 ICD9CM:362.73 SNOMEDCT_US_2023_03_01:79556007 UMLS_CUI:C0154863 Vitreoretinal dystrophies disease_ontology DOID:14251 vitreoretinal dystrophy DOID:14251 ICD10CM:H35.54 ICD9CM:362.76 UMLS_CUI:C0154865 disease_ontology DOID:14252 dystrophies primarily involving the retinal pigment epithelium DOID:14252 ICD9CM:362.71 UMLS_CUI:C0154861 disease_ontology DOID:14253 retinal dystrophy in systemic or cerebroretinal lipidoses DOID:14253 A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain. GARD:436 ICD10CM:M06.1 MESH:D016706 SNOMEDCT_US_2023_03_01:239920006 UMLS_CUI:C0085253 adult onset Still's disease adult-onset Still disease disease_ontology DOID:14256 adult-onset Still's disease DOID:14256 A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain. url:http://en.wikipedia.org/wiki/Adult-onset_Still%27s_disease url:http://www.mayoclinic.com/health/adult-stills-disease/DS00792 url:http://www.nlm.nih.gov/medlineplus/ency/article/000450.htm url:http://www.thedoctorwillseeyounow.com/content/arthritis/art1928.html url:https://www.aiarthritis.org/stillsdisease Leukemic reticuloendotheliosis involving lymph nodes of inguinal region and lower limb Leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb (disorder) Leukemic reticuloendotheliosis of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology DOID:14258 obsolete leukemic reticuloendotheliosis of lymph nodes of inguinal region and lower limb true DOID:14258 A urinary system disease that is located_in the ureter. MESH:D014515 NCI:C27148 SNOMEDCT_US_2023_03_01:128073008 UMLS_CUI:C0403608 disease_ontology DOID:1426 ureteral disease DOID:1426 A urinary system disease that is located_in the ureter. url:http://www.nlm.nih.gov/medlineplus/ureteraldisorders.html A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. GARD:6464 ICD10CM:Q99.2 ICD9CM:759.83 MESH:D005600 MIM:300624 NCI:C84717 ORDO:908 SNOMEDCT_US_2023_03_01:390007001 UMLS_CUI:C0016667 FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME MARTIN-BELL SYNDROME disease_ontology DOID:14261 OMIM mapping confirmed by DO. [SN]. fragile X syndrome DOID:14261 A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. url:http://en.wikipedia.org/wiki/Fragile_X_syndrome url:http://omim.org/entry/300624 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908 A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes. ICD10CM:B37.9 ICD9CM:112.0 MESH:D002180 NCI:C28137 SNOMEDCT_US_2023_03_01:187006006 UMLS_CUI:C0006849 Candidiasis of mouth Oral moniliasis Thrush, oral thrush disease_ontology DOID:14262 oral candidiasis DOID:14262 A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes. url:http://en.wikipedia.org/wiki/Oral_candidiasis Convulsions in newborn Convulsions in the newborn (disorder) Seizures in newborn disease_ontology DOID:14263 obsolete fits in newborn true DOID:14263 A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion. MESH:D020936 MIM:121200 MIM:121201 MIM:269720 NCI:C84593 ORDO:1949 SNOMEDCT_US_2023_03_01:38281008 UMLS_CUI:C0270851 benign familial neonatal seizures benign neonatal convulsions disease_ontology DOID:14264 Xref MGI. benign neonatal seizures DOID:14264 A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion. url:http://en.wikipedia.org/wiki/Benign_familial_neonatal_epilepsy url:http://www.ncbi.nlm.nih.gov/books/NBK32534/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140927 A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur. DOID:11210 MESH:D011665 NCI:C62436 SNOMEDCT_US_2023_03_01:91434003 UMLS_CUI:C0034088 Pulmonic insufficiency Pulmonic valve regurgitation pulmonary incompetence pulmonary incompetence, non-rheumatic pulmonary insufficiency following trauma and surgery pulmonary regurg. pulmonary regurgitation disease_ontology DOID:14265 Replacing outdated UMLS CUI. pulmonary valve insufficiency MESH:D011665 DOID:14265 A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur. url:http://en.wikipedia.org/wiki/pulmonary_insufficiency EFO:0004268 ICD10CM:K83.09 MESH:D015209 SNOMEDCT_US_2023_03_01:4032000 UMLS_CUI:C0008313 fibrosing cholangitis disease_ontology DOID:14268 sclerosing cholangitis DOID:14268 ICD10CM:K83.09 NCI:C35336 SNOMEDCT_US_2023_03_01:197437002 UMLS_CUI:C0267924 disease_ontology DOID:14269 suppurative cholangitis DOID:14269 Unspecified disorder of pancreatic internal secretion disorder of pancreatic internal secretion (disorder) disease_ontology DOID:1427 obsolete disorder of pancreatic internal secretion true DOID:1427 ICD10CM:K83.09 NCI:C35372 SNOMEDCT_US_2023_03_01:26918003 UMLS_CUI:C0311273 disease_ontology DOID:14270 ascending cholangitis DOID:14270 NCI:C35334 SNOMEDCT_US_2023_03_01:6215006 UMLS_CUI:C0267917 disease_ontology DOID:14271 acute cholangitis DOID:14271 NCI:C34916 SNOMEDCT_US_2023_03_01:111373008 UMLS_CUI:C0031052 disease_ontology DOID:14272 pericholangitis DOID:14272 A vulvar disease that is characterized by the presence of atrophy and associated with decreased estrogenization. ICD10CM:N90.5 ICD9CM:624.1 SNOMEDCT_US_2023_03_01:82614005 UMLS_CUI:C0156393 Atrophy of vulva disease_ontology DOID:14275 atrophic vulva DOID:14275 A vulvar disease that is characterized by the presence of atrophy and associated with decreased estrogenization. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2800285/ ICD10CM:M75.4 MESH:D019534 SNOMEDCT_US_2023_03_01:128498000 UMLS_CUI:C0376685 Impingement syndrome of shoulder region Subacromial impingement disease_ontology DOID:14276 shoulder impingement syndrome DOID:14276 Arthropathy NOS, of the hand (disorder) Joint disorder NOS, of the hand (disorder) Unspecified disorder of hand joint disease_ontology DOID:14278 obsolete arthropathy of the hand true DOID:14278 A pancreas disease that is located_in the endocrine component of the pancreas, consisting of islet cells (islets of Langerhans) that create and release important hormones directly into the bloodstream. ICD10CM:E16 ICD9CM:251 SNOMEDCT_US_2023_03_01:190427005 UMLS_CUI:C0154189 disease_ontology DOID:1428 endocrine pancreas disease DOID:1428 A pancreas disease that is located_in the endocrine component of the pancreas, consisting of islet cells (islets of Langerhans) that create and release important hormones directly into the bloodstream. url:https://columbiasurgery.org/pancreas/pancreas-and-its-functions ICD10CM:M89.4 MESH:D010004 MIM:259100 NCI:C85023 SNOMEDCT_US_2023_03_01:88220006 UMLS_CUI:C0029411 Pachydermoperiostosis of nail Pachydermoperiostosis syndrome disease_ontology DOID:14283 OMIM mapping confirmed by DO. [SN]. primary hypertrophic osteoarthropathy DOID:14283 MESH:D046788 UMLS_CUI:C0877149 disease_ontology DOID:14284 patellofemoral pain syndrome DOID:14284 ICD10CM:M14.6 ICD9CM:713.5 MESH:D001177 SNOMEDCT_US_2023_03_01:156514009 UMLS_CUI:C0003892 Arthropathy associated with neurological disorder Charcot's arthropathy Neuropathic arthropathy disease_ontology Charcot's joint DOID:14286 neurogenic arthropathy DOID:14286 An anterior scleritis that is characterized by painful inflammation and tender nodule formation of the anterior sclera and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. ICD10CM:H15.02 ICD9CM:379.06 SNOMEDCT_US_2023_03_01:91612009 UMLS_CUI:C0155356 disease_ontology DOID:14287 brawny scleritis DOID:14287 An anterior scleritis that is characterized by painful inflammation and tender nodule formation of the anterior sclera and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. url:https://en.wikipedia.org/wiki/Scleritis url:https://www.aao.org/eye-health/diseases/what-is-scleritis A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. GARD:6313 ICD10CM:Q22.5 ICD9CM:746.2 MESH:D004437 MIM:224700 NCI:C84681 SNOMEDCT_US_2023_03_01:1796006 UMLS_CUI:C0013481 Ebstein's anomaly Ebstein's anomaly of common atrioventricular valve Ebstein's anomaly of right atrioventricular valve Ebstein's anomaly of tricuspid valve disease_ontology DOID:14289 OMIM mapping confirmed by DO. [SN]. Ebstein anomaly DOID:14289 A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. url:http://en.wikipedia.org/wiki/Ebstein_anomaly A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. GARD:1100 MESH:D044542 MIM:PS151100 NCI:C84820 ORDO:500 SNOMEDCT_US_2023_03_01:111306001 UMLS_CUI:C0175704 Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Generalized lentiginosis Gorlin syndrome II LEOPARD syndrome Lentiginosis profusa syndrome Moynahan syndrome Multiple lentigines syndrome Progressive cardiomyopathic lentiginosis disease_ontology DOID:14291 OMIM mapping confirmed by DO. [SN]. Noonan syndrome with multiple lentigines DOID:14291 A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. url:https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance url:https://rarediseases.info.nih.gov/diseases/1100/leopard-syndrome A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching. ICD10CM:N90.4 ICD9CM:624.0 NCI:C34565 SNOMEDCT_US_2023_03_01:198378001 UMLS_CUI:C0013426 Dystrophy of vulva disease_ontology DOID:14292 vulvar dystrophy DOID:14292 A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching. url:https://www.ncbi.nlm.nih.gov/pubmed/1449423 A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula. MESH:D004654 NCI:C34575 SNOMEDCT_US_2023_03_01:186184002 UMLS_CUI:C0014014 disease_ontology DOID:14305 tuberculous empyema DOID:14305 A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula. url:http://erj.ersjournals.com/cgi/reprint/10/4/942 url:https://www.merriam-webster.com/dictionary/empyema#medicalDictionary MESH:D000796 NCI:C7393 SNOMEDCT_US_2023_03_01:254791004 UMLS_CUI:C0002989 Angiolymphoid Cutaneous hyperplasia epithelioid hemangioma of skin disease_ontology DOID:14308 skin epithelioid hemangioma DOID:14308 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever. DOID:11749 DOID:2330 calcivirus enteritis norwalk virus enteritis small round virus enteritis disease_ontology DOID:14311 obsolete Norovirus gastroenteritis true DOID:14311 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Norovirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom vomiting, has_symptom watery diarrhea, has_symptom abdominal cramps, has_symptom nausea, and has_symptom fever. url:http://www.cdc.gov/ncidod/dvrd/revb/gastro/norovirus-factsheet.htm Non-toxic uninodular goiter (disorder) Non-toxic uninodular goiter (disorder) [Ambiguous] Non-toxic uninodular goitre disease_ontology DOID:14312 obsolete nontoxic uninodular goiter true DOID:14312 Nodule of the Thyroid gland Thyroid nodule Thyroid nodule (disorder) disease_ontology DOID:14313 obsolete thyroid nodule true DOID:14313 A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria. MESH:D011001 SNOMEDCT_US_2023_03_01:60485005 UMLS_CUI:C0032241 disease_ontology DOID:14319 pleuropneumonia DOID:14319 A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria. url:http://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=pleural%20pneumonia&alt=sh url:https://www.merriam-webster.com/dictionary/pleuropneumonia#medicalDictionary An eye disease characterized by a lack or loss of vision. ICD10CM:H54 ICD9CM:369 SNOMEDCT_US_2023_03_01:193698004 UMLS_CUI:C0155020 vision impairment vision loss visual impairment disease_ontology DOID:1432 blindness DOID:1432 An eye disease characterized by a lack or loss of vision. url:https://en.wikipedia.org/wiki/Visual_impairment url:https://nei.nih.gov/eyedata/blind url:https://www.cdc.gov/healthcommunication/toolstemplates/entertainmented/tips/Blindness.html An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation. ICD10CM:F41.1 ICD9CM:300.02 NCI:C92622 SNOMEDCT_US_2023_03_01:192401002 UMLS_CUI:C0270549 disease_ontology DOID:14320 generalized anxiety disorder DOID:14320 An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation. url:http://en.wikipedia.org/wiki/Anxiety_disorder A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. GARD:6975 ICD10CM:Q87.4 ICD9CM:759.82 MESH:D008382 MIM:154700 NCI:C34807 SNOMEDCT_US_2023_03_01:19346006 UMLS_CUI:C0024796 Marfan's syndrome disease_ontology DOID:14323 OMIM mapping confirmed by DO. [SN]. Marfan syndrome MESH:D008382 DOID:14323 A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. url:https://ghr.nlm.nih.gov/condition/marfan-syndrome#inheritance url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34807 url:https://rarediseases.org/rare-diseases/marfan-syndrome/ A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals. ICD10CM:B52 ICD9CM:084.2 NCI:C34799 SNOMEDCT_US_2023_03_01:27618009 UMLS_CUI:C0024536 Malaria by Plasmodium malariae Quartan Malaria disease_ontology DOID:14324 Plasmodium malariae malaria DOID:14324 A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals. url:https://www.merriam-webster.com/medical/malariae%20malaria A malaria that involves infection with more than one species of Plasmodium at the same time. ICD9CM:084.5 SNOMEDCT_US_2023_03_01:21070001 UMLS_CUI:C0153121 Malaria fever by more than one parasite malaria by more than one parasite disease_ontology DOID:14325 mixed malaria DOID:14325 A malaria that involves infection with more than one species of Plasmodium at the same time. url:https://www.ncbi.nlm.nih.gov/pubmed/15105024 A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia. Avian malaria (disorder) disease_ontology DOID:14326 obsolete avian malaria true DOID:14326 A malaria characterized as a vector-borne infectious disease of birds caused by protozoan parasites Plasmodium relictum, Plasmodium anasum or Plasmodium gallinaceum, which are transmitted by Culex quinquefasciatus mosquitoes, causing anemia. url:http://en.wikipedia.org/wiki/Avian_malaria Gonococcal pericarditis (disorder) disease_ontology DOID:14327 obsolete gonococcal pericarditis true DOID:14327 A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. GARD:10251 ICD10CM:G20 ICD9CM:332 KEGG:05012 MESH:D010300 MIM:PS168600 NCI:C26845 ORDO:2828 SNOMEDCT_US_2023_03_01:49049000 UMLS_CUI:C0030567 Parkinson disease paralysis agitans disease_ontology DOID:14330 Xref MGI. OMIM mapping confirmed by DO. [SN]. Parkinson's disease DOID:14330 A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. url:http://en.wikipedia.org/wiki/Parkinson%27s_disease url:https://pubmed.ncbi.nlm.nih.gov/26474316/ url:https://www.ncbi.nlm.nih.gov/articles/PMC5877503/ ICD10CM:G21.3 MESH:D010301 NCI:C34898 SNOMEDCT_US_2023_03_01:192828004 UMLS_CUI:C0030568 postencephalitic parkinsonism disease_ontology DOID:14332 postencephalitic Parkinson disease DOID:14332 An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen. ICD10CM:E28.0 ICD9CM:256.0 NCI:C113344 SNOMEDCT_US_2023_03_01:190533004 UMLS_CUI:C0154209 hyperestrogenism disease_ontology DOID:14336 estrogen excess DOID:14336 An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen. url:https://en.wikipedia.org/wiki/Hyperestrogenism A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias. Pneumonia due to Pseudomonas Pneumonia due to Pseudomonas (disorder) disease_ontology DOID:14338 obsolete Pseudomonal pneumonia true DOID:14338 A Pseudomonas infectious disease that is caused by a Gram-negative bacterium Pseudomonas aeruginosa resulting in pulmonary edema. This bacterium releases immunogenic bacterial components that can gain access to airway epithelium and immune cells in the lung thus causing airway inflammation. P. aeruginosa is the common cause of hospital acquired and ventilator-associated pneumonias. url:http://en.wikipedia.org/wiki/Pseudomonas_aeruginosa url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2425928/pdf/postmedj00237-0064.pdf Paraphrenia Paraphrenia (disorder) disease_ontology DOID:14339 obsolete paraphrenia true DOID:14339 ICD10CM:E06.0 MESH:D013969 NCI:C129724 SNOMEDCT_US_2023_03_01:3511005 UMLS_CUI:C0040150 Infectious thyroiditis acute suppurative thyroiditis disease_ontology DOID:14350 suppurative thyroiditis DOID:14350 ICD10CM:E06.5 NCI:C35827 SNOMEDCT_US_2023_03_01:190298005 UMLS_CUI:C0154162 Riedel fibrosing thyroiditis disease_ontology DOID:14351 Riedel's fibrosing thyroiditis DOID:14351 ICD10CM:E06.0 ICD9CM:245.0 SNOMEDCT_US_2023_03_01:154665005 UMLS_CUI:C0001360 disease_ontology DOID:14353 acute thyroiditis DOID:14353 ICD10CM:H18.71 ICD9CM:371.71 SNOMEDCT_US_2023_03_01:14748007 UMLS_CUI:C0155135 disease_ontology DOID:1436 corneal ectasia DOID:1436 A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. Infection by Opisthorchis viverrini (disorder) Opisthorchis Viverrini Infection disease_ontology DOID:14360 obsolete Opisthorchis viverrini infectious disease true DOID:14360 A opisthorchiasis that involves parasitic infection of the liver, biliary ducts, pancreas and pancreatic ducts by Opisthorchis viverrini. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma. url:http://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm Congenital syphilitic meningitis (disorder) disease_ontology DOID:14363 obsolete congenital syphilitic meningitis true DOID:14363 An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. DOID:1668 ICD10CM:E71.41 ICD9CM:277.81 MESH:C536778 MIM:212140 NCI:C98864 SNOMEDCT_US_2023_03_01:21764004 UMLS_CUI:C0342788 carnitine transporter deficiency carnitine uptake defect deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect disease_ontology DOID:14365 OMIM mapping confirmed by DO. [SN]. systemic primary carnitine deficiency disease DOID:14365 An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. url:http://en.wikipedia.org/wiki/Carnitine_deficiency A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching. NCI:C34855 SNOMEDCT_US_2023_03_01:128870005 UMLS_CUI:C0028425 Crusted scabies disease_ontology DOID:14374 norwegian scabies DOID:14374 A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching. url:http://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm A cerebrum cancer that is located_in the parietal lobe. DOID:14383 ICD10CM:C71.3 ICD9CM:191.3 NCI:C5573 SNOMEDCT_US_2023_03_01:126956001 SNOMEDCT_US_2023_03_01:93946000 UMLS_CUI:C0153637 UMLS_CUI:C1263888 malignant neoplasm of parietal lobe tumor of Parietal Lobe disease_ontology DOID:14384 parietal lobe neoplasm DOID:14384 A cerebrum cancer that is located_in the parietal lobe. url:http://en.wikipedia.org/wiki/Parietal_lobe ICD10CM:R82.81 MESH:D011776 NCI:C119028 SNOMEDCT_US_2023_03_01:4800001 UMLS_CUI:C0034359 Pus cells in urine disease_ontology DOID:1439 pyuria DOID:1439 A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations. ICD10CM:I82.1 ICD9CM:453.1 SNOMEDCT_US_2023_03_01:155491005 UMLS_CUI:C0152250 disease_ontology DOID:14392 thrombophlebitis migrans DOID:14392 A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations. url:http://en.wikipedia.org/wiki/Thrombophlebitis A dysentery that involves protozoan infection. ICD10CM:A07.8 ICD9CM:007.8 SNOMEDCT_US_2023_03_01:186127007 UMLS_CUI:C0152507 disease_ontology DOID:14397 protozoal dysentery DOID:14397 A dysentery that involves protozoan infection. url:http://en.wikipedia.org/wiki/Dysentery An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. GARD:6801 MESH:D017827 MIM:109150 NCI:C84830 ORDO:98757 SNOMEDCT_US_2023_03_01:91952008 UMLS_CUI:C0024408 Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3 disease_ontology DOID:1440 OMIM mapping confirmed by DO. [SN]. Machado-Joseph disease MESH:D017827 DOID:1440 An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. url:http://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease MJD SCA3 A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues. GARD:1084 MESH:D019559 NCI:C62578 ORDO:188 SNOMEDCT_US_2023_03_01:87730004 UMLS_CUI:C0343084 disease_ontology DOID:14400 capillary leak syndrome MESH:D019559 DOID:14400 A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5481509/ Cutis Marmorata Cutis marmorata (disorder) disease_ontology DOID:14401 obsolete cutis marmorata true DOID:14401 ICD10CM:G62.81 ICD9CM:357.82 MESH:D011115 SNOMEDCT_US_2023_03_01:230594005 UMLS_CUI:C0393851 disease_ontology DOID:14402 critical illness polyneuropathy DOID:14402 A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance. DOID:2478 MESH:D020754 MIM:PS164400 NCI:C82341 ORDO:94 SNOMEDCT_US_2023_03_01:129609000 UMLS_CUI:C0087012 spinocerebellar ataxia disease_ontology DOID:1441 autosomal dominant cerebellar ataxia DOID:1441 A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance. url:http://www.ncbi.nlm.nih.gov/books/NBK1138/ url:http://www.ncbi.nlm.nih.gov/books/NBK22234/ ICD9CM:386.56 SNOMEDCT_US_2023_03_01:2058001 UMLS_CUI:C0155520 Bilateral loss of labyrinthine reactivity Loss of labyrinthine reactivity, bilateral disease_ontology DOID:14413 labyrinthine bilateral reactive loss DOID:14413 An osteochondrosis that results_in death and fracture located_in hip joint. DOID:14561 GARD:6874 ICD10CM:M91.2 MESH:D007873 MIM:150600 NCI:C34766 SNOMEDCT_US_2023_03_01:15739006 SNOMEDCT_US_2023_03_01:270545000 UMLS_CUI:C0022441 UMLS_CUI:C0023234 Calve - Perthes' disease Coxa plana Juvenile osteochond-hip/pelvis Juvenile osteochondrosis of hip and/or pelvis Perthe's disease Perthes disease juvenile osteochondrosis of hip and pelvis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia disease_ontology Legg-Calve-Perthes symptom DOID:14415 OMIM mapping confirmed by DO. [SN]. Legg-Calve-Perthes disease DOID:14415 An osteochondrosis that results_in death and fracture located_in hip joint. url:http://en.wikipedia.org/wiki/Legg%E2%80%93Calv%C3%A9%E2%80%93Perthes_syndrome A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection. GARD:6286 ICD10CM:B72 ICD9CM:125.7 MESH:D004320 NCI:C84677 SNOMEDCT_US_2023_03_01:48874008 UMLS_CUI:C0013100 Dracontiasis Infection by Dracunculus medinensis disease_ontology DOID:14418 dracunculiasis DOID:14418 A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection. url:http://en.wikipedia.org/wiki/Dracunculiasis url:http://www.dpd.cdc.gov/dpdx/HTML/Dracunculiasis.htm A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease. Filariasis ozzardi infection Mansonella Ozzardi Infection Ozzardian filariasis (disorder) disease_ontology DOID:14419 obsolete Mansonella ozzardi infectious disease true DOID:14419 A mansonelliasis that involves parasitic infection by the nematode Mansonella ozzardi, which resides in the subcutaneous tissues causing arthralgias, headaches, fever, pulmonary symptoms, adenopathy, hepatomegaly, and pruritus. Both midges and blackflies transmit the disease. url:http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm disease_ontology DOID:1442 obsolete Alpers syndrome true DOID:1442 A filarial elephantiasis that involves parasitic infection by the nematode Brugia malayi, which inhabits the lymphatics. The symptoms include fever, lymphadenitis, lymphangitis, lymphedema, and secondary bacterial infection. disease_ontology DOID:14421 obsolete Brugia malayi filariasis true DOID:14421 A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis. ICD9CM:125.4 MESH:D004154 NCI:C34540 SNOMEDCT_US_2023_03_01:15629006 UMLS_CUI:C0012517 Infection by Dipetalonema Infection by Dipetalonema perstans dipetalonema infectious disease disease_ontology DOID:14422 dipetalonemiasis DOID:14422 A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis. url:http://books.google.com/books?id=OBZbR4vpg0YC&pg=PA158&lpg#v=onepage&q&f=false GARD:6519 ICD10CM:G52.1 ICD9CM:352.1 MESH:D020435 SNOMEDCT_US_2023_03_01:43763009 UMLS_CUI:C0154731 disease_ontology DOID:14423 glossopharyngeal neuralgia DOID:14423 metastasis to intra-abdominal lymph node secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes (disorder) secondary and unspecified malignant neoplasm of intra-abdominal lymph nodes NOS (disorder) secondary malignant neoplasm of intra-abdominal lymph nodes (disorder) disease_ontology DOID:14425 obsolete secondary malignant neoplasm of intra-abdominal lymph node true DOID:14425 metastasis to intrathoracic lymph node secondary and unspecified malignant neoplasm of intrathoracic lymph nodes secondary and unspecified malignant neoplasm of intrathoracic lymph nodes (disorder) secondary and unspecified malignant neoplasm of intrathoracic lymph nodes NOS (disorder) secondary malignant neoplasm of intrathoracic lymph nodes (disorder) disease_ontology DOID:14426 obsolete secondary malignant neoplasm of intrathoracic lymph node true DOID:14426 ICD9CM:251.4 SNOMEDCT_US_2023_03_01:11178005 UMLS_CUI:C0154191 Glucagon secretion abnormality disease_ontology DOID:14427 abnormality of glucagon secretion DOID:14427 A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue. GARD:6019 ICD9CM:331.9 SNOMEDCT_US_2023_03_01:52522001 UMLS_CUI:C0154671 Brain degeneration disease_ontology DOID:1443 cerebral degeneration DOID:1443 A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue. url:https://en.wikipedia.org/wiki/Neurodegeneration An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge. Verotoxigenic Escherichia coli gastrointestinal tract infection Verotoxigenic Escherichia coli gastrointestinal tract infection (disorder) intestinal infection due to enterohemorrhagic E. coli disease_ontology DOID:14433 obsolete enterohemorrhagic Escherichia coli infectious disease true DOID:14433 An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterohemorrhagic Escherichia coli (EHEC), which cause hemorrhagic colitis or bloody diarrhea that can progress to hemolytic uremic syndrome. EHEC are considered to be moderately invasive and are characterized by the production of verotoxin or Shiga toxins. The infection results in copious bloody discharge. url:http://www.textbookofbacteriology.net/e.coli_4.html An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever. Enterotoxigenic Escherichia coli gastrointestinal tract infection Enterotoxigenic Escherichia coli gastrointestinal tract infection (disorder) intestinal infection due to enterotoxigenic E. coli disease_ontology DOID:14434 obsolete enterotoxigenic Escherichia coli infectious disease true DOID:14434 An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enterotoxigenic Escherichia coli (ETEC), which are non-invasive and produce heat-labile enterotoxin (LT) or heat stable toxin (ST). The bacteria colonize the GI tract by means of a fimbrial adhesin. The symptoms include diarrhea without fever. url:http://www.textbookofbacteriology.net/e.coli_4.html A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. ICD10CM:H66.1 ICD9CM:382.1 SNOMEDCT_US_2023_03_01:87665008 UMLS_CUI:C0155440 disease_ontology DOID:14435 chronic tubotympanic suppurative otitis media DOID:14435 A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. url:http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA101&lpg#v=onepage&q=&f=false A physical urticaria induced by sweating. ICD10CM:L50.5 ICD9CM:708.5 SNOMEDCT_US_2023_03_01:73098005 UMLS_CUI:C0152230 disease_ontology DOID:14443 cholinergic urticaria DOID:14443 A physical urticaria induced by sweating. url:http://en.wikipedia.org/wiki/Cholinergic_urticaria url:http://www.dermnetnz.org/reactions/urticaria.html A deep keratitis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea with opacification of the corneal stroma and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Sclerosing keratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. ICD10CM:H16.33 ICD9CM:370.54 SNOMEDCT_US_2023_03_01:27886001 UMLS_CUI:C0155090 Sclerokeratitis disease_ontology DOID:14444 sclerosing keratitis DOID:14444 A deep keratitis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea with opacification of the corneal stroma and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Sclerosing keratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. url:https://www.aao.org/eye-health/diseases/what-is-scleritis A primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Chronic closed-angle glaucoma has_symptom progressive loss of peripheral vision, decreased vision, and occasionally headaches. Chronic closed-angle glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. ICD10CM:H40.22 ICD9CM:365.23 SNOMEDCT_US_2023_03_01:33647009 UMLS_CUI:C0154947 Anatomical narrow angle glaucoma chronic angle-closure glaucoma chronic narrow angle glaucoma disease_ontology DOID:14445 chronic closed-angle glaucoma DOID:14445 A primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Chronic closed-angle glaucoma has_symptom progressive loss of peripheral vision, decreased vision, and occasionally headaches. Chronic closed-angle glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. url:https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. GARD:2538 ICD9CM:758.6 MESH:D006059 NCI:C61420 SNOMEDCT_US_2023_03_01:268356004 UMLS_CUI:C0018051 Gonadal dysgenesis syndrome disease_ontology DOID:14447 gonadal dysgenesis DOID:14447 A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. url:http://en.wikipedia.org/wiki/Gonadal_dysgenesis A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. MESH:D006061 MIM:PS400044 NCI:C120198 UMLS_CUI:C0018054 46 XY gonadal dysgenesis 46,XY sex reversal Pure gonadal dysgenesis 46,XY Swyer syndrome disease_ontology DOID:14448 The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS]. 46,XY complete gonadal dysgenesis DOID:14448 A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. url:http://en.wikipedia.org/wiki/XY_gonadal_dysgenesis url:https://ghr.nlm.nih.gov/condition/swyer-syndrome#synonyms A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis. MESH:D006060 NCI:C120199 SNOMEDCT_US_2023_03_01:205682006 UMLS_CUI:C0018055 disease_ontology DOID:14449 mixed gonadal dysgenesis DOID:14449 A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis. url:https://www.pathologyoutlines.com/topic/ovarynontumormixedgonadaldysgenesis.html A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female. MESH:D023961 MIM:PS233300 NCI:C120197 ORDO:243 UMLS_CUI:C0949595 ovarian dysgenesis disease_ontology DOID:14450 OMIM mapping confirmed by DO. [LS]. 46 XX gonadal dysgenesis DOID:14450 A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female. url:http://en.wikipedia.org/wiki/XX_gonadal_dysgenesis url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=243 GARD:195 ICD10CM:G72.3 MESH:D020513 MIM:170500 NCI:C123429 ORDO:682 SNOMEDCT_US_2023_03_01:304737009 UMLS_CUI:C0238357 familial hyperkalemic periodic paralysis disease_ontology DOID:14451 OMIM mapping confirmed by DO. [SN]. hyperkalemic periodic paralysis DOID:14451 GARD:5557 GARD:6729 ICD10CM:G72.3 MESH:D020514 MIM:170400 MIM:613345 NCI:C84775 ORDO:681 SNOMEDCT_US_2023_03_01:240093008 UMLS_CUI:C0238358 Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis disease_ontology DOID:14452 OMIM mapping confirmed by DO. [SN]. hypokalemic periodic paralysis DOID:14452 An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness. GARD:6427 ICD10CM:J67.0 ICD9CM:495.0 MESH:D005203 NCI:C34605 SNOMEDCT_US_2023_03_01:155581001 UMLS_CUI:C0015634 Farmers lung farmer lung disease_ontology DOID:14453 farmer's lung DOID:14453 An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness. url:http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf url:http://www.merriam-webster.com/dictionary/farmer%27s%20lung A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain. ICD10CM:A23.0 ICD9CM:023.0 SNOMEDCT_US_2023_03_01:186305007 UMLS_CUI:C0302362 disease_ontology DOID:14456 Brucella melitensis brucellosis DOID:14456 A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain. url:http://www.bmj.com/cgi/reprint/1/5644/612.pdf A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia. ICD10CM:A23.1 ICD9CM:023.1 MESH:D002007 SNOMEDCT_US_2023_03_01:427795000 UMLS_CUI:C0302363 disease_ontology DOID:14457 Brucella abortus brucellosis DOID:14457 A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia. url:http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm url:http://www.ncbi.nlm.nih.gov/sites/entrez/10790142 NCI:C6245 SNOMEDCT_US_2023_03_01:121951000119101 UMLS_CUI:C1335128 Angioma of the orbit disease_ontology DOID:14459 hemangioma of orbit DOID:14459 NCI:C4546 SNOMEDCT_US_2023_03_01:254998002 UMLS_CUI:C0346352 Cavernous Angioma of orbit disease_ontology DOID:14463 cavernous hemangioma of orbit DOID:14463 A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers. GARD:7195 ICD10CM:G21.0 ICD9CM:333.92 MESH:D009459 NCI:C94829 ORDO:94093 SNOMEDCT_US_2023_03_01:15244003 UMLS_CUI:C0027849 disease_ontology DOID:14464 neuroleptic malignant syndrome DOID:14464 A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers. url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12561 disease_ontology DOID:14467 obsolete drug-induced persisting amnestic disease true DOID:14467 A viral infectious disease that results in infection located in lung, has_material_basis_in Orthohantavirus sinnombreense, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Orthohantavirus nigrorivense, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Orthohantavirus bayoui, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Orthohantavirus negraense, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Orthohantavirus andesense, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications. GARD:69 ICD10CM:B33.4 MESH:D018804 NCI:C84747 ORDO:319247 SNOMEDCT_US_2023_03_01:120639003 UMLS_CUI:C0243025 HPS disease_ontology DOID:14472 hantavirus pulmonary syndrome ICD9CM:079.81 ICD9CM:480.8 GARD:69 ICD10CM:B33.4 MESH:D018804 NCI:C84747 ORDO:319247 UMLS_CUI:C0243025 DOID:14472 A viral infectious disease that results in infection located in lung, has_material_basis_in Orthohantavirus sinnombreense, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Orthohantavirus nigrorivense, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Orthohantavirus bayoui, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Orthohantavirus negraense, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Orthohantavirus andesense, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications. url:http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false url:http://www.cdc.gov/ncidod/diseases/hanta/hps/noframes/generalinfoindex.htm url:http://www.ncbi.nlm.nih.gov/sites/entrez/10742726 url:https://www.merriam-webster.com/medical/hantavirus%20pulmonary%20syndrome HPS An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells. Pneumonia due to adenovirus disease_ontology DOID:14473 obsolete adenovirus pneumonia true DOID:14473 An adenovirus infectious disease described as the infection of the lungs by adenoviruses (1,2, 3 and 7) especially in infants and children. In mild form of infection, findings of interstitial inflammatory cell infiltration may predominate, and nuclear inclusion bodies, most prominent in alveolar lining cells, may be identified in infected cells. url:http://en.wikipedia.org/wiki/Adenovirus_infection url:http://virology-online.com/viruses/Adenoviruses3.htm A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium. Pneumonia due to respiratory syncytial virus (disorder) disease_ontology DOID:14474 obsolete respiratory syncytial virus pneumonia true DOID:14474 A respiratory syncytial virus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The disease is characterized by occasional multinucleated syncytial giant cells, hyperplasia of alveolar epithelial cells, epithelial necrosis of bronchioles and bronchi, papillary epithelial hyperplasia, and an inflammatory infiltrate composed of lymphocytes and macrophages in the peribronchial space and interstitium. url:http://books.google.com/books?id=12k1sTIyp1kC&pg=PA117&lpg#v=onepage&q=&f=false url:http://www.cdc.gov/RSV/ url:http://www.merck.com/mmhe/sec23/ch273/ch273i.htm A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever. Parainfluenza virus pneumonia (disorder) disease_ontology DOID:14475 obsolete parainfluenzal pneumonia true DOID:14475 A viral infectious disease that results_in inflammation located_in lung, has_material_basis_in Human parainfluenza virus 3, which is transmitted_by contact with the respiratory secretions of an infected person. The infection leads to the formation of multinucleated giant cells derived from the respiratory epithelium. The infection has_symptom shortness of breath, has_symptom cough, and has_symptom fever. url:http://books.google.com/books?id=nWtVT4n0yM8C&pg=RA1-PA452&lpg#v=onepage&q=&f=false url:http://www.springerlink.com/content/d3540088547u2n43/fulltext.pdf A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure. SARS-associated coronavirus pneumonia disease_ontology DOID:14476 obsolete SARS coronavirus pneumonia true DOID:14476 A severe acute respiratory syndrome that results_in infection located_in lungs, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom myalgia, has_symptom lethargy, has_symptom cough, has_symptom sore throat, has_symptom shortness of breath, and other breathing difficulties which may lead to death as a result of respiratory failure. url:http://en.wikipedia.org/wiki/SARS url:http://www.doh.gov.ph/sars/may16.pdf A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies. Cytomegaloviral pneumonia (disorder) disease_ontology DOID:14477 obsolete Cytomegalovirus pneumonia true DOID:14477 A Cytomegalovirus infectious disease that results_in inflammation, located_in lung, has_material_basis_in Human herpesvirus 5, a member of a group of herpes-type viruses especially in people who have a suppressed immune system and has_symptom cough, has_symptom fatigue, has_symptom shortness of breath, and has_symptom hypoxemia. Cytomegalovirus infection can be demonstrated microscopically by the detection of intranuclear inclusion bodies. url:http://www.nlm.nih.gov/medlineplus/ency/article/000664.htm A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis. ICD10CM:O26.4 MESH:D006559 NCI:C85003 SNOMEDCT_US_2023_03_01:86081009 UMLS_CUI:C0019343 Gestational herpes herpes gestationis disease_ontology DOID:14482 pemphigoid gestationis DOID:14482 A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3062810/ MESH:D020150 SNOMEDCT_US_2023_03_01:25113000 UMLS_CUI:C0264746 disease_ontology DOID:14483 chorea gravidarum DOID:14483 A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation. GARD:7692 ICD10CM:B42 ICD9CM:117.1 MESH:D013174 SNOMEDCT_US_2023_03_01:266218008 UMLS_CUI:C0038034 disease_ontology DOID:14484 sporotrichosis DOID:14484 A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation. url:https://www.health.ny.gov/diseases/communicable/sporotrichosis/fact_sheet.htm NCI:C6175 UMLS_CUI:C1336876 lymphoma of ureter disease_ontology DOID:14489 ureteral lymphoma DOID:14489 metastatic neoplasm to the Ureter secondary malignant neoplasm of ureter (disorder) disease_ontology DOID:14490 obsolete metastasis to the ureter true DOID:14490 NCI:C9356 UMLS_CUI:C0854921 regional Ureteric carcinoma regional malignant ureteral tumor disease_ontology DOID:14491 regional ureteric cancer DOID:14491 Ureter metastatic malignant neoplasm disease_ontology DOID:14492 obsolete metastatic neoplasm of ureter true DOID:14492 ICD10CM:K91.1 MESH:D004377 NCI:C2994 SNOMEDCT_US_2023_03_01:155785007 UMLS_CUI:C0013288 Dumping (jejunal) syndrome Jejunal syndrome disease_ontology DOID:14495 dumping syndrome DOID:14495 A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life. GARD:7899 ICD10CM:E75.5 MESH:D015223 MIM:620151 NCI:C61271 ORDO:75233 SNOMEDCT_US_2023_03_01:82500001 UMLS_CUI:C0043208 Acid esterase deficiency Acid lipase deficiency Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease Xanthomatosis, familial acute infantile lysosomal acid lipase deficiency complete LAL deficiency complete LIPA deficiency complete cholesterol ester hydrolase deficiency complete lysosomal acid lipase deficiency disease_ontology DOID:14497 Wolman disease ICD10CM:E75.5 MIM:620151 ORDO:75233 DOID:14497 A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life. url:https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/ url:https://www.ncbi.nlm.nih.gov/books/NBK395569/ GARD:3268 MESH:D008065 MIM:247100 NCI:C84829 SNOMEDCT_US_2023_03_01:38692000 UMLS_CUI:C0023795 Lipid proteinosis URBACH-WIETHE DISEASE disease_ontology DOID:14498 OMIM mapping confirmed by DO. [SN]. lipoid proteinosis DOID:14498 A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. GARD:6400 ICD10CM:E75.21 MESH:D000795 MIM:301500 NCI:C84701 SNOMEDCT_US_2023_03_01:16652001 UMLS_CUI:C0002986 Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum Fabry Disease, Cardiac Variant Fabry's disease alpha galactosidase deficiency deficiency of melibiase disease_ontology DOID:14499 OMIM mapping confirmed by DO. [SN]. Fabry disease DOID:14499 A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. url:https://ghr.nlm.nih.gov/condition/fabry-disease disease_ontology DOID:145 obsolete papilledema associated with retinal disorder true DOID:145 GARD:6473 ICD10CM:E77.1 MESH:D005645 MIM:230000 NCI:C61274 SNOMEDCT_US_2023_03_01:64716005 UMLS_CUI:C0016788 A-fucosidase deficiency alpha fucosidase deficiency disease_ontology DOID:14500 OMIM mapping confirmed by DO. [SN]. fucosidosis DOID:14500 A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11. GARD:7654 MESH:D016111 MIM:270200 NCI:C85070 ORDO:816 SNOMEDCT_US_2023_03_01:111303009 UMLS_CUI:C0037231 FALDH deficiency SLS Sjogren Larsson syndrome Sjogren-Larsson's syndrome fatty acid alcohol oxidoreductase deficiency disease_ontology DOID:14501 OMIM mapping confirmed by DO. [LS]. Sjogren-Larsson syndrome DOID:14501 A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11. url:https://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome url:https://www.omim.org/entry/270200 SLS A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen. GARD:12099 MESH:D015217 MIM:278000 ORDO:75234 SNOMEDCT_US_2023_03_01:57218003 UMLS_CUI:C0008384 CESD partial LAL deficiency partial LIPA deficiency partial cholesterol ester hydrolase deficiency partial lysosomal acid lipase deficiency disease_ontology DOID:14502 cholesterol ester storage disease GARD:12099 MESH:D015217 MIM:278000 ORDO:75234 DOID:14502 A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen. url:https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/ url:https://www.ncbi.nlm.nih.gov/books/NBK395569/ CESD GARD:10739 ICD10CM:E75.4 MESH:D009472 MIM:PS256730 NCI:C61257 ORDO:216 ORDO:79262 SNOMEDCT_US_2023_03_01:42012007 UMLS_CUI:C0027877 hereditary ceroid lipofuscinosis disease_ontology DOID:14503 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. neuronal ceroid lipofuscinosis DOID:14503 A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. DOID:0050442 DOID:0050443 DOID:14770 GARD:13334 ICD10CM:E75.24 MESH:D009542 NCI:C61269 SNOMEDCT_US_2023_03_01:58459009 UMLS_CUI:C0028064 Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis disease_ontology DOID:14504 OMIM mapping confirmed by DO. [SN]. Niemann-Pick disease DOID:14504 A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. url:https://en.wikipedia.org/wiki/Niemann-Pick_disease url:https://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease ICD10CM:H18.46 ICD9CM:371.48 SNOMEDCT_US_2023_03_01:89182000 UMLS_CUI:C0155123 peripheral degenerations of cornea disease_ontology DOID:14507 peripheral degeneration of cornea DOID:14507 A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. DOID:14511 ICD10CM:B37.2 ICD9CM:112.3 SNOMEDCT_US_2023_03_01:187014000 UMLS_CUI:C0006842 candidiasis of skin candidiasis of skin and nails disease_ontology DOID:14512 candidal paronychia DOID:14512 A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884921/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323378/ A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. GARD:5528 MESH:D017624 MIM:194072 NCI:C3718 SNOMEDCT_US_2023_03_01:715215007 UMLS_CUI:C0206115 11p partial monosomy syndrome Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome chromosome 11p13 deletion syndrome disease_ontology DOID:14515 OMIM mapping confirmed by DO. [LS]. WAGR syndrome DOID:14515 A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. url:http://en.wikipedia.org/wiki/WAGR_syndrome disease_ontology DOID:14518 obsolete Idiopathic cysts of iris and ciliary body true DOID:14518 An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever. Enteritis due to adenovirus adenoviral enteritis disease_ontology DOID:14520 obsolete adenovirus gastroenteritis true DOID:14520 An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever. url:http://digestive.niddk.nih.gov/ddiseases/pubs/viralgastroenteritis/ url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2544764/pdf/bmj00269-0005b.pdf cutaneous breast cancer disease_ontology DOID:14521 obsolete cutaneous breast cancer true DOID:14521 ICD10CM:H34.21 ICD9CM:362.33 NCI:C35192 SNOMEDCT_US_2023_03_01:776009 UMLS_CUI:C0154839 Retinal partial arterial occlusion partial retinal arterial occlusion disease_ontology DOID:14522 partial arterial retinal occlusion DOID:14522 An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response. ICD10CM:H57.01 ICD9CM:379.45 SNOMEDCT_US_2023_03_01:21011008 UMLS_CUI:C0155375 Argyll Robertson phenomenon or pupil, nonsyphilitic Argyll Robertson pupil, atypical Atypical Argyll-Robertson pupil disease_ontology DOID:14523 Argyll Robertson pupil DOID:14523 An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response. url:https://www.ncbi.nlm.nih.gov/pubmed/10863169 ICD9CM:331.2 SNOMEDCT_US_2023_03_01:267687006 UMLS_CUI:C0154669 Senile brain degen. disease_ontology DOID:14524 senile degeneration of brain DOID:14524 A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use. GARD:7570 ICD10CM:G93.7 ICD9CM:331.81 MESH:D012202 NCI:C34983 SNOMEDCT_US_2023_03_01:74351001 UMLS_CUI:C0035400 Reye's syndrome disease_ontology DOID:14525 Reye syndrome DOID:14525 A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use. url:https://en.wikipedia.org/wiki/Reye_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/2680560 ICD10CM:K03.3 ICD9CM:521.42 SNOMEDCT_US_2023_03_01:41918006 UMLS_CUI:C0266878 disease_ontology DOID:14529 external pathological resorption DOID:14529 ICD10CM:K14.4 ICD9CM:529.4 SNOMEDCT_US_2023_03_01:196586009 UMLS_CUI:C0155964 Atrophy of tongue papillae Glossitis, Hunter's Hunter's glossitis smooth atrophic tongue disease_ontology DOID:1453 atrophic glossitis DOID:1453 Syringomyelia and syringobulbia (disorder) disease_ontology DOID:14530 obsolete syringomyelia and syringobulbia true DOID:14530 NCI:C5367 UMLS_CUI:C1334569 MPNST of Heart disease_ontology DOID:14534 malignant cardiac peripheral nerve sheath neoplasm DOID:14534 NCI:C5371 SNOMEDCT_US_2023_03_01:866080006 UMLS_CUI:C1334566 malignant cardiac germ cell tumour malignant germ cell tumor of the Heart malignant germ cell tumour of the Heart disease_ontology DOID:14535 malignant cardiac germ cell tumor DOID:14535 metastatic tumor to the Heart secondary malignant neoplasm of heart (disorder) disease_ontology DOID:14539 obsolete metastasis to heart true DOID:14539 disease_ontology DOID:14542 obsolete macular or paramacular focal retinitis and retinochoroiditis true DOID:14542 A rete testis neoplasm that derives_from epithelial cells of glandular origin. NCI:C8955 UMLS_CUI:C0863024 adenocarcinoma of the rete testis disease_ontology adenocarcinoma of rete testis DOID:14544 rete testis adenocarcinoma DOID:14544 A rete testis neoplasm that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A male reproductive organ cancer that derives_from epithelial cells of glandular origin. NCI:C39906 UMLS_CUI:C1519233 disease_ontology DOID:14545 seminal vesicle adenocarcinoma DOID:14545 A male reproductive organ cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma ICD10CM:C31.3 ICD9CM:160.5 NCI:C3543 SNOMEDCT_US_2023_03_01:94067008 UMLS_CUI:C0153479 malignant tumor of Sphenoidal sinus malignant tumor of sphenoid sinus disease_ontology DOID:14546 sphenoidal sinus cancer DOID:14546 A squamous cell carcinoma that is located_in the sphenoid sinus. NCI:C6066 SNOMEDCT_US_2023_03_01:1255660002 UMLS_CUI:C1336039 Epidermoid carcinoma of the Sphenoidal sinus disease_ontology DOID:14547 sphenoid sinus squamous cell carcinoma DOID:14547 A squamous cell carcinoma that is located_in the sphenoid sinus. url:https://www.ncbi.nlm.nih.gov/pubmed/25748513 ICD9CM:365.03 SNOMEDCT_US_2023_03_01:302895007 UMLS_CUI:C0339572 Borderline glaucoma steroid responder Steroid responders borderline glaucoma disease_ontology DOID:14548 steroid-induced glaucoma - borderline DOID:14548 Tympanosclerosis involving tympanic membrane, ear ossicles, and middle ear Tympanosclerosis of tympanic membrane, ossicles and middle ear (disorder) disease_ontology DOID:14549 obsolete Tympanosclerosis involving tympanic membrane, ear ossicles and middle ear true DOID:14549 An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface. GARD:6493 ICD10CM:K14.1 ICD9CM:529.1 MESH:D005929 MIM:137400 NCI:C84588 SNOMEDCT_US_2023_03_01:59032001 UMLS_CUI:C0017677 Glossitis areata exfoliativa Pityriasis linguae benign migratory glossitis disease_ontology DOID:1455 OMIM mapping confirmed by DO. [SN]. geographic tongue DOID:1455 An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface. url:http://en.wikipedia.org/wiki/Geographic_tongue MESH:D012391 UMLS_CUI:C0035851 disease_ontology DOID:14550 root resorption DOID:14550 ICD10CM:H47.14 ICD9CM:377.04 MESH:D009901 SNOMEDCT_US_2023_03_01:87764000 UMLS_CUI:C0152112 disease_ontology DOID:14555 Foster-Kennedy syndrome DOID:14555 A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. ICD10CM:I27.0 ICD9CM:416.0 MIM:178600 MIM:265400 MIM:615342 MIM:615343 MIM:615344 ORDO:422 SNOMEDCT_US_2023_03_01:26174007 UMLS_CUI:C0152171 Idiopathic pulmonary arterial hypertension disease_ontology DOID:14557 Xref MGI. OMIM mapping confirmed by DO. [SN]. primary pulmonary hypertension DOID:14557 A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. url:http://en.wikipedia.org/wiki/Pulmonary_hypertension url:http://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension Non-toxic multinodular goiter (disorder) Non-toxic multinodular goitre disease_ontology DOID:14558 obsolete nontoxic multinodular goiter true DOID:14558 ICD9CM:320.81 UMLS_CUI:C0375197 disease_ontology DOID:14559 anaerobic meningitis DOID:14559 ICD10CM:K14.0 ICD9CM:529.0 MESH:D005928 NCI:C112199 SNOMEDCT_US_2023_03_01:155666003 UMLS_CUI:C0017675 disease_ontology DOID:1456 glossitis DOID:1456 A disease that is characterized by abnormally rapid cell division. neoplasm DOID:0000818 cell process disease neoplasm disease_ontology DOID:14566 disease of cellular proliferation DOID:14566 A disease that is characterized by abnormally rapid cell division. url:http://en.wikipedia.org/w/index.php?title=Cell_proliferation ICD10CM:E89.0 ICD9CM:244.0 SNOMEDCT_US_2023_03_01:27059002 UMLS_CUI:C0154157 Post-surgical hypothyroidism Postoperative hypothyroidism disease_ontology DOID:1458 postsurgical hypothyroidism DOID:1458 A thyroid gland disease which involves an underproduction of thyroid hormone. DOID:11630 EFO:0004705 ICD10CM:E03.9 ICD9CM:244.9 MESH:D007037 NCI:C26800 SNOMEDCT_US_2023_03_01:267465007 UMLS_CUI:C0020676 Thyroid deficiency Thyroid insufficiency disease_ontology DOID:1459 hypothyroidism DOID:1459 A thyroid gland disease which involves an underproduction of thyroid hormone. url:https://medlineplus.gov/hypothyroidism.html GARD:7318 ICD10CM:H47.1 ICD9CM:377.0 MESH:D010211 NCI:C3307 SNOMEDCT_US_2023_03_01:423488006 UMLS_CUI:C0030353 disease_ontology DOID:146 papilledema DOID:146 disease_ontology DOID:1460 atheroembolism of kidney DOID:1460 A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream. ICD10CM:I75 ICD9CM:445 MESH:D017700 SNOMEDCT_US_2023_03_01:10690002 UMLS_CUI:C0149649 atheroembolism cholesterol crystal embolism purple toe syndrome trash foot warfarin blue toe syndrome disease_ontology DOID:1461 cholesterol embolism DOID:1461 A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream. url:http://en.wikipedia.org/wiki/Cholesterol_embolism Salmonella septicemia (disorder) disease_ontology DOID:1465 obsolete Salmonella septicemia true DOID:1465 ICD10CM:N41.9 ICD9CM:601.9 MESH:D011472 NCI:C26866 SNOMEDCT_US_2023_03_01:155907007 UMLS_CUI:C0033581 disease_ontology DOID:14654 prostatitis DOID:14654 DOID:9469 localized Salmonella infectious disease disease_ontology DOID:1466 obsolete Salmonella infectious disease true DOID:1466 A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. GARD:2015 GARD:5724 MESH:C538179 MIM:101800 MIM:614613 ORDO:950 SNOMEDCT_US_2023_03_01:66758006 UMLS_CUI:C0220659 disease_ontology DOID:14669 OMIM mapping confirmed by DO. [SN]. acrodysostosis DOID:14669 A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. url:http://children.webmd.com/acrodysostosis url:http://en.wikipedia.org/wiki/Acrodysostosis url:http://www.nlm.nih.gov/medlineplus/ency/article/001248.htm A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. ICD9CM:386.31 SNOMEDCT_US_2023_03_01:41674001 UMLS_CUI:C0155504 acute serous labyrinthitis disease_ontology DOID:1467 serous labyrinthitis DOID:1467 A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. url:http://books.google.com/books?id=QRgynJASsi8C&pg=PA221&lpg#v=onepage&q=&f=false A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia. GARD:897 MESH:C537632 MIM:239800 ORDO:2213 SNOMEDCT_US_2023_03_01:721836009 UMLS_CUI:C0220742 Bixler Christian Gorlin syndrome Bixler syndrome Bixler-Christian-Gorlin syndrome HMC syndrome Hypertelorism-Microtia-Clefting Syndrome Hypertelorism-microtia-facial clefting syndrome disease_ontology DOID:14670 OMIM mapping confirmed by DO. [SN]. hypertelorism, microtia, facial clefting syndrome DOID:14670 A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia. url:https://www.ncbi.nlm.nih.gov/pubmed/11152141 An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21. GARD:3013 MEDDRA:10028210 MESH:C562441 MIM:243150 ORDO:2300 SNOMEDCT_US_2023_03_01:95472001 UMLS_CUI:C0220744 GIDID Multiple gastrointestinal atresias familial intestinal polyatresia syndrome gastrointestinal defects and immunodeficiency syndrome disease_ontology DOID:14671 OMIM mapping confirmed by DO. [SN]. multiple intestinal atresia DOID:14671 An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21. url:https://www.ncbi.nlm.nih.gov/pubmed/23423984 GIDID disease_ontology DOID:14676 OMIM mapping confirmed by DO. [SN]. obsolete congenital contricting bands true DOID:14676 A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. GARD:5443 ICD10CM:Q87.2 MESH:C536534 MIM:192350 MIM:276950 SNOMEDCT_US_2023_03_01:205830006 UMLS_CUI:C0220708 disease_ontology VATER syndrome DOID:14679 OMIM mapping confirmed by DO. [LS]. VACTERL association DOID:14679 A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. url:http://en.wikipedia.org/wiki/VACTERL_association url:http://ghr.nlm.nih.gov/condition/vacterl-association url:http://www.cincinnatichildrens.org/health/v/vacterl/ An otitis interna which involves inflammation of the labyrinths. ICD10CM:H83.0 ICD9CM:386.3 MESH:D007762 SNOMEDCT_US_2023_03_01:155239008 UMLS_CUI:C0022893 disease_ontology DOID:1468 labyrinthitis DOID:1468 An otitis interna which involves inflammation of the labyrinths. url:https://www.merriam-webster.com/medical/labyrinthitis VASCULITIS, HEREDITARY INFLAMMATORY, WITH PERSISTENT NODULES disease_ontology DOID:14680 obsolete hereditary inflammatory vasculitis true DOID:14680 A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. GARD:4870 ICD10CM:Q87.19 MESH:D056730 MIM:180860 NCI:C85068 SNOMEDCT_US_2023_03_01:15069006 UMLS_CUI:C0175693 Silver Russell Dwarfism disease_ontology DOID:14681 OMIM mapping confirmed by DO. [LS]. Silver-Russell syndrome DOID:14681 A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. url:https://ghr.nlm.nih.gov/condition/russell-silver-syndrome url:https://rarediseases.org/rare-diseases/russell-silver-syndrome/ GARD:6992 MESH:C536036 MIM:155050 SNOMEDCT_US_2023_03_01:715985008 UMLS_CUI:C0220692 binder type maxillonasal dysplasia disease_ontology DOID:14683 OMIM mapping confirmed by DO. [SN]. Binder syndrome DOID:14683 An eye disease characterized by abnormalities of the front part of the eye, the anterior segment. GARD:5701 ICD10CM:Q13.81 MESH:C535679 MIM:PS180500 NCI:C131001 ORDO:782 SNOMEDCT_US_2023_03_01:47507006 UMLS_CUI:C0265341 Anomaly, Rieger's Axenfeld syndrome RGS - Rieger syndrome Rieger's anomaly disease_ontology Hagedoom syndrome DOID:14686 Xref MGI. OMIM mapping confirmed by DO. [SN]. Axenfeld-Rieger syndrome DOID:14686 An eye disease characterized by abnormalities of the front part of the eye, the anterior segment. url:http://en.wikipedia.org/wiki/Axenfeld_syndrome url:http://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. GARD:6275 ICD10CM:Q77.5 MESH:C536170 MIM:222600 NCI:C156311 SNOMEDCT_US_2023_03_01:58561002 UMLS_CUI:C0220726 disease_ontology DOID:14687 OMIM mapping confirmed by DO. [SN]. diastrophic dysplasia DOID:14687 An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. url:http://en.wikipedia.org/wiki/Diastrophic_dysplasia url:http://ghr.nlm.nih.gov/condition/diastrophic-dysplasia url:http://www.ncbi.nlm.nih.gov/books/NBK22219/ Major depressive disorder, single episode in full remission Single major depressive episode, in full remission (disorder) disease_ontology DOID:1469 obsolete single major depressive episode in full remission true DOID:1469 DOID:4366 GARD:5683 ICD10CM:E78.72 MESH:D019082 MIM:270400 NCI:C85071 SNOMEDCT_US_2023_03_01:43929004 UMLS_CUI:C0175694 Rutledge lethal multiple congenital anomaly syndrome Smith-Opitz-Inborn syndrome disease_ontology DOID:14692 OMIM mapping confirmed by DO. [LS]. Smith-Lemli-Opitz syndrome DOID:14692 An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12. GARD:2056 MESH:D004476 MIM:129500 SNOMEDCT_US_2023_03_01:54209007 UMLS_CUI:C0162361 Clouston's hidrotic ectodermal dysplasia Clouston's syndrome Hidrotic ectodermal dysplasia syndrome ectodermal dysplasia 2, Clouston type hidrotic ectodermal dysplasia disease_ontology DOID:14693 OMIM mapping confirmed by DO. [SN]. Clouston syndrome DOID:14693 An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12. url:https://pubmed.ncbi.nlm.nih.gov/8845850/ A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. GARD:80 MESH:C535880 MIM:243800 ORDO:2315 SNOMEDCT_US_2023_03_01:75979009 UMLS_CUI:C0175692 JBS disease_ontology DOID:14694 OMIM mapping confirmed by DO. [SN]. Johanson-Blizzard syndrome DOID:14694 A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. url:http://en.wikipedia.org/wiki/Johanson-Blizzard_syndrome JBS A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. GARD:2422 ICD10CM:E74.29 MESH:D005693 MIM:230200 NCI:C114767 SNOMEDCT_US_2023_03_01:124302001 UMLS_CUI:C0268155 Galactosemia II disease_ontology DOID:14695 OMIM mapping confirmed by DO. [SN]. galactokinase deficiency DOID:14695 A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. url:http://en.wikipedia.org/wiki/Galactokinase_deficiency A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other. ICD10CM:Q87.2 MESH:C536940 MIM:274000 NCI:C99038 ORDO:3320 SNOMEDCT_US_2023_03_01:85589009 UMLS_CUI:C0175703 Radial aplasia-thrombocytopenia syndrome Thrombocytopenia with absent radii (TAR) syndrome disease_ontology DOID:14699 OMIM mapping confirmed by DO. [LS]. thrombocytopenia-absent radius syndrome DOID:14699 A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other. url:https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK23758/ A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality. DOID:10614 DOID:2240 DOID:2241 DOID:7580 EFO:0003761 ICD10CM:F32 ICD10CM:F33.9 ICD9CM:296.2 ICD9CM:296.3 MIM:608520 MIM:608691 NCI:C34796 SNOMEDCT_US_2023_03_01:268621008 SNOMEDCT_US_2023_03_01:36923009 UMLS_CUI:C0024517 UMLS_CUI:C0154409 clinical depression major depression recurrent major depression single major depressive episode unipolar depression disease_ontology DOID:1470 Xref MGI. major depressive disorder DOID:1470 A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality. url:http://en.wikipedia.org/wiki/Major_depressive_disorder url:https://pubmed.ncbi.nlm.nih.gov/30333763 An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy. DOID:14706 GARD:467 ICD10CM:E71.121 MESH:D056693 MIM:606054 NCI:C85030 SNOMEDCT_US_2023_03_01:69080001 UMLS_CUI:C0268579 UMLS_CUI:C2717876 GLYCINEMIA, KETOTIC KETOTIC HYPERGLYCINEMIA ketotic II glycinemia ketotic glycinemia propionic aciduria propionyl-CoA carboxylase deficiency disease_ontology DOID:14701 OMIM mapping confirmed by DO. [SN]. propionic acidemia DOID:14701 An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy. url:http://en.wikipedia.org/wiki/Propionic_acidemia A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. GARD:10147 MEDDRA:10071135 MESH:D019280 NCI:C98983 SNOMEDCT_US_2023_03_01:290006 UMLS_CUI:C0265234 Branchio-Oto-renal syndrome Branchio-otorenal dysplasia Melnick-Fraser syndrome branchiootorenal dysplasia disease_ontology DOID:14702 OMIM mapping confirmed by DO. [SN]. branchiootorenal syndrome DOID:14702 A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. url:https://www.ncbi.nlm.nih.gov/pubmed/263442 An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. GARD:7380 MESH:D000168 MIM:101600 NCI:C99100 ORDO:710 SNOMEDCT_US_2023_03_01:70410008 UMLS_CUI:C0220658 acrocephalosyndactylia type V disease_ontology DOID:14705 OMIM mapping confirmed by DO. [SN]. Pfeiffer syndrome DOID:14705 An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. url:http://en.wikipedia.org/wiki/Pfeiffer_syndrome url:http://ghr.nlm.nih.gov/condition/pfeiffer-syndrome url:http://www.healthline.com/galecontent/pfeiffer-syndrome url:https://www.faces-cranio.org/pfeiffer A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. GARD:2317 MESH:C537923 MIM:300321 MIM:300406 MIM:300422 MIM:300581 MIM:305450 ORDO:323 ORDO:93932 SNOMEDCT_US_2023_03_01:49984004 UMLS_CUI:C0220769 Keller syndrome Opitz-Kaveggia syndrome disease_ontology DOID:14711 Xref MGI. OMIM mapping confirmed by DO. [SN]. FG syndrome DOID:14711 A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. url:http://en.wikipedia.org/wiki/FG_syndrome url:http://ghr.nlm.nih.gov/condition/fg-syndrome A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. GARD:101 ICD10CM:G71.22 MESH:D020914 NCI:C84648 ORDO:595 ORDO:596 ORDO:69186 ORDO:69189 SNOMEDCT_US_2023_03_01:193223007 UMLS_CUI:C0175709 myotubular myopathy disease_ontology DOID:14717 Xref MGI. centronuclear myopathy DOID:14717 A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. url:http://en.wikipedia.org/wiki/Centronuclear_myopathy url:http://ghr.nlm.nih.gov/condition/centronuclear-myopathy An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34. MESH:C536194 MIM:130000 NCI:C125696 SNOMEDCT_US_2023_03_01:83470009 UMLS_CUI:C0268335 Ehlers-Danlos syndrome, type 1 type I Ehlers-Danlos syndrome disease_ontology DOID:14720 OMIM mapping confirmed by DO. [LS]. Ehlers-Danlos syndrome classic type 1 DOID:14720 An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34. url:https://pubmed.ncbi.nlm.nih.gov/28306229/ An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomiting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones. GARD:872 MESH:C535818 MIM:203750 ORDO:134 SNOMEDCT_US_2023_03_01:238067002 UMLS_CUI:C1533628 2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency alpha-methylacetoaceticaciduria peroxisomal thiolase deficiency disease_ontology DOID:14723 OMIM mapping confirmed by DO. [SN]. beta-ketothiolase deficiency DOID:14723 An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomiting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones. url:https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency#statistics A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene. MESH:C537323 MIM:156580 UMLS_CUI:C0220693 disease_ontology DOID:14725 OMIM mapping confirmed by DO. [SN]. autosomal dominant microcephaly DOID:14725 A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene. url:https://www.ncbi.nlm.nih.gov/pubmed/3236353 disease_ontology DOID:14727 obsolete dominant cogenital severe sensorineural deafness true DOID:14727 A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36. GARD:5545 GARD:7878 MESH:C562443 MIM:277590 UMLS_CUI:C0220765 WEAVER-LIKE SYNDROME Weaver-Williams syndrome disease_ontology DOID:14731 OMIM mapping confirmed by DO. [LS]. Weaver syndrome DOID:14731 A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36. url:https://ghr.nlm.nih.gov/condition/weaver-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/30793471 An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes. GARD:5979 MESH:D054179 MIM:PS106100 NCI:C84758 ORDO:91378 SNOMEDCT_US_2023_03_01:82966003 UMLS_CUI:C0019243 HANE Hereditary angioneurotic edema disease_ontology DOID:14735 OMIM mapping confirmed by DO. [SN]. hereditary angioedema MESH:D054179 MIM:PS106100 ORDO:91378 DOID:14735 An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes. url:https://medlineplus.gov/genetics/condition/hereditary-angioedema/ HANE A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton. GARD:1578 MESH:C536456 MIM:304110 ORDO:1520 SNOMEDCT_US_2023_03_01:715421009 UMLS_CUI:C0220767 CFND CFNS craniofrontonasal dysostosis craniofrontonasal dysplasia disease_ontology DOID:14737 OMIM mapping confirmed by DO. [SN]. craniofrontonasal syndrome DOID:14737 A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton. url:https://www.omim.org/entry/304110 url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1520 CFND CFNS disease_ontology DOID:14739 obsolete progressive high-tone neural deafness true DOID:14739 A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. ICD10CM:K05.2 MESH:D010520 MIM:170650 MIM:608526 SNOMEDCT_US_2023_03_01:449908004 UMLS_CUI:C0031106 juvenile periodontitis disease_ontology DOID:1474 OMIM mapping confirmed by DO. [SN]. aggressive periodontitis MESH:D010520 DOID:1474 A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. url:http://en.wikipedia.org/wiki/Aggressive_periodontitis A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). DOID:0050552 GARD:7802 MESH:C536820 MIM:190350 NCI:C75109 ORDO:77258 SNOMEDCT_US_2023_03_01:239016009 UMLS_CUI:C0432233 trichorhinophalangeal syndrome type 1 type I trichorhinophalangeal syndrome disease_ontology Trichorhinophalangeal dysplasia type I DOID:14743 OMIM mapping confirmed by DO. [LS]. trichorhinophalangeal syndrome type I DOID:14743 A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). url:https://medlineplus.gov/genetics/condition/trichorhinophalangeal-syndrome-type-i/ A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria. GARD:4235 MESH:C562446 MIM:309510 ORDO:94083 UMLS_CUI:C0220775 X-linked Russell-Silver syndrome disease_ontology DOID:14744 OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS]. Partington syndrome DOID:14744 A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria. url:http://ghr.nlm.nih.gov/condition/partington-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/23622180 A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. GARD:10091 ICD10CM:Q87.3 MESH:D058495 MIM:PS117550 NCI:C75019 ORDO:821 SNOMEDCT_US_2023_03_01:75968004 UMLS_CUI:C0175695 cerebral gigantism disease_ontology DOID:14748 Xref MGI. Sotos syndrome DOID:14748 A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. url:http://en.wikipedia.org/wiki/Cerebral_gigantism url:https://research.nhgri.nih.gov/atlas/condition/sotos-syndrome An organic acidemia that involves an accumulation of methylmalonic acid in the blood. DOID:14782 DOID:14802 GARD:7033 MESH:C537358 methylmalonic aciduria disease_ontology DOID:14749 OMIM mapping confirmed by DO. [SN]. methylmalonic acidemia DOID:14749 An organic acidemia that involves an accumulation of methylmalonic acid in the blood. url:http://ghr.nlm.nih.gov/condition/methylmalonic-acidemia A benign vascular tumor that is composed of dilated lymphatic channels. GARD:9789 ICD10CM:D18.1 ICD9CM:228.1 ICDO:9170/0 MESH:D008202 NCI:C8965 SNOMEDCT_US_2023_03_01:154625006 UMLS_CUI:C0024221 Congenital lymphangioma benign lymphangioma disease_ontology DOID:1475 lymphangioma DOID:1475 A benign vascular tumor that is composed of dilated lymphatic channels. url:https://en.wikipedia.org/wiki/Lymphangioma An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. GARD:465 ICD10CM:E71.110 MESH:C538167 MIM:243500 NCI:C98964 SNOMEDCT_US_2023_03_01:87827003 UMLS_CUI:C0268575 Isovaleryl-CoA dehydrogenase deficiency isovaleric acid CoA dehydrogenase deficiency isovaleric aciduria disease_ontology DOID:14753 OMIM mapping confirmed by DO. [SN]. isovaleric acidemia DOID:14753 An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. url:http://en.wikipedia.org/wiki/Isovaleric_acidemia An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. GARD:5843 MESH:D056807 MIM:207900 NCI:C84569 SNOMEDCT_US_2023_03_01:41013004 UMLS_CUI:C0268547 Argininosuccinate lyase deficiency argininosuccinic acidemia arginosuccinase deficiency deficiency of argininosuccinate lyase disease_ontology DOID:14755 OMIM mapping confirmed by DO. [SN]. argininosuccinic aciduria DOID:14755 An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. url:http://en.wikipedia.org/wiki/Argininosuccinic_aciduria An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. GARD:2082 MIM:130050 NCI:C125699 ORDO:286 Ehlers-Danlos syndrome type 4 Ehlers-Danlos syndrome type IV autosomal dominant type IV Ehlers-Danlos syndrome disease_ontology DOID:14756 vascular type Ehlers-Danlos syndrome DOID:14756 An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. url:https://pubmed.ncbi.nlm.nih.gov/21637106/ An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity. GARD:2081 ICD10CM:Q79.62 MESH:C536196 MIM:130020 NCI:C125698 SNOMEDCT_US_2023_03_01:30652003 UMLS_CUI:C0268337 Ehlers-Danlos syndrome, type 3 type III Ehlers-Danlos syndrome disease_ontology DOID:14757 OMIM mapping confirmed by DO. [LS]. Ehlers-Danlos syndrome hypermobility type DOID:14757 An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity. url:https://pubmed.ncbi.nlm.nih.gov/28306229/ An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. SNOMEDCT_US_2023_03_01:70610001 UMLS_CUI:C0268340 Ehlers-Danlos syndrome, recessive type 4 disease_ontology DOID:14759 autosomal recessive type IV Ehlers-Danlos syndrome DOID:14759 An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. url:https://pubmed.ncbi.nlm.nih.gov/28306229/ An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. DOID:9251 GARD:6550 MESH:C537300 MIM:175700 NCI:C35255 SNOMEDCT_US_2023_03_01:32985001 UMLS_CUI:C0265306 polysyndactyly with peculiars skull shape disease_ontology DOID:14761 OMIM mapping confirmed by DO. [SN]. Greig cephalopolysyndactyly syndrome DOID:14761 An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. url:http://en.wikipedia.org/wiki/Greig_cephalopolysyndactyly_syndrome url:http://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. MIM:186400 SNOMEDCT_US_2023_03_01:62628008 UMLS_CUI:C0175700 Multiple synostosis syndrome SYNOSTOSES, TARSAL, CARPAL AND DIGITAL disease_ontology DOID:14762 OMIM mapping confirmed by DO. [LS]. calcaneonavicular coalition DOID:14762 A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. url:http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities. GARD:6860 MESH:C580241 MIM:150250 dominant larsen syndrome disease_ontology DOID:14764 OMIM mapping confirmed by DO. [SN]. Larsen syndrome DOID:14764 A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities. url:http://en.wikipedia.org/wiki/Larsen_syndrome url:https://ghr.nlm.nih.gov/condition/larsen-syndrome A renal disease that is characterized by the failure of one or both kidneys to develop. GARD:9228 MESH:C563261 MIM:191830 ORDO:93108 hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia disease_ontology DOID:14766 renal agenesis DOID:14766 A renal disease that is characterized by the failure of one or both kidneys to develop. url:https://en.wikipedia.org/wiki/Renal_agenesis An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. GARD:7598 MESH:D000168 MIM:101400 MIM:180750 NCI:C75034 ORDO:794 SNOMEDCT_US_2023_03_01:390726000 UMLS_CUI:C0175699 disease_ontology acrocephalosyndactyly type III DOID:14768 OMIM mapping confirmed by DO. [SN]. Saethre-Chotzen syndrome DOID:14768 An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. url:http://children.webmd.com/saethre-chotzen-syndrome url:http://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome url:http://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome url:http://www.healthline.com/galecontent/saethre-chotzen-syndrome url:https://www.faces-cranio.org/saethre-chotzen An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3. DOID:0080022 MESH:C535916 MIM:250250 NCI:C61245 SNOMEDCT_US_2023_03_01:234421004 UMLS_CUI:C0220748 CHH McKusick type metaphyseal chondrodysplasia Metaphyseal chondrodysplasia, McKusick type disease_ontology DOID:14773 OMIM mapping confirmed by DO. [SN]. cartilage-hair hypoplasia DOID:14773 An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3. url:https://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia url:https://www.ncbi.nlm.nih.gov/pubmed/11207361 CHH An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24. GARD:1019 MESH:C536198 MIM:229200 NCI:C125700 SNOMEDCT_US_2023_03_01:25606004 UMLS_CUI:C0268342 type VIB Ehlers-Danlos syndrome disease_ontology DOID:14775 OMIM mapping confirmed by DO. [LS]. brittle cornea syndrome 1 DOID:14775 An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24. url:https://pubmed.ncbi.nlm.nih.gov/28306229/ GARD:2159 MESH:D020936 ORDO:1949 SNOMEDCT_US_2023_03_01:279953009 UMLS_CUI:C0220669 familial neonatal seizures disease_ontology DOID:14777 benign familial neonatal epilepsy DOID:14777 A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in the FOXL2 gene on chromosome 3q22.3. MESH:C562419 MIM:110100 SNOMEDCT_US_2023_03_01:79833006 UMLS_CUI:C0220663 disease_ontology Blepharophimosis, ptosis, epicanthus inversus syndrome DOID:14778 OMIM mapping confirmed by DO. [SN]. blepharophimosis, ptosis, and epicanthus inversus syndrome DOID:14778 A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in the FOXL2 gene on chromosome 3q22.3. url:https://www.ncbi.nlm.nih.gov/pubmed/11175783 A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. GARD:82 MESH:C537015 MIM:148050 ORDO:2332 SNOMEDCT_US_2023_03_01:711156009 UMLS_CUI:C0220687 disease_ontology DOID:14780 OMIM mapping confirmed by DO. [SN]. KBG syndrome DOID:14780 A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=KBG%20Syndrome url:https://www.kbgfoundation.com/home.html A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. DOID:12708 MESH:D009849 NCI:C84947 SNOMEDCT_US_2023_03_01:67761004 UMLS_CUI:C0028968 Dejerine-Thomas syndrome Thomas' syndrome WADIA-SWAMI SYNDROME disease_ontology DOID:14784 OMIM mapping confirmed by DO. [SN]. olivopontocerebellar atrophy DOID:14784 A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. url:http://www.ninds.nih.gov/disorders/opca/opca.htm disease_ontology DOID:14787 OMIM mapping confirmed by DO. [SN]. obsolete Fryns syndrome true DOID:14787 A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. DOID:0080025 GARD:4987 MESH:C535788 MIM:183900 Late Spondyloepiphyseal Dysplasia disease_ontology DOID:14789 OMIM mapping confirmed by DO. [SN]. spondyloepiphyseal dysplasia congenita DOID:14789 A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. url:https://pubmed.ncbi.nlm.nih.gov/1971141/ A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. GARD:634 MESH:D057130 MIM:PS204000 NCI:C129075 ORDO:65 SNOMEDCT_US_2023_03_01:193413001 UMLS_CUI:C0339527 LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease disease_ontology DOID:14791 Xref MGI. OMIM mapping confirmed by DO. [SN]. Leber congenital amaurosis DOID:14791 A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. url:http://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis LCA An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). DOID:0050446 DOID:0050447 GARD:76 MESH:D053358 NCI:C84562 ORDO:238468 SNOMEDCT_US_2023_03_01:239007005 UMLS_CUI:C0162359 disease_ontology DOID:14793 OMIM mapping confirmed by DO. [SN]. hypohidrotic ectodermal dysplasia DOID:14793 An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). url:http://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia url:http://www.ncbi.nlm.nih.gov/books/NBK1112/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468 A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. GARD:6290 ICD10CM:Q87.19 MEDDRA:10059589 MESH:C535718 MIM:223370 NCI:C125591 SNOMEDCT_US_2023_03_01:2593002 UMLS_CUI:C0175691 Dubowitz's syndrome disease_ontology DOID:14796 OMIM mapping confirmed by DO. [SN]. Dubowitz syndrome DOID:14796 A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. url:http://en.wikipedia.org/wiki/Dubowitz_syndrome An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. GARD:916 MIM:188700 MIM:259200 SNOMEDCT_US_2023_03_01:880067009 UMLS_CUI:C0220757 Blount disease familial infantile type osteochondrosis deformans tibiae disease_ontology DOID:14798 OMIM mapping confirmed by DO. [SN]. Blount's disease DOID:14798 An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. url:http://en.wikipedia.org/wiki/Blount%27s_disease url:http://www.e-radiography.net/radpath/b/blountsdisease.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/001584.htm url:http://www.wheelessonline.com/ortho/blounts_disease A periodontal disease that is located_in the gums. MESH:D005882 NCI:C173795 SNOMEDCT_US_2023_03_01:18718003 UMLS_CUI:C0017563 gum disease disease_ontology DOID:1483 gingival disease DOID:1483 A periodontal disease that is located_in the gums. url:https://www.nidcr.nih.gov/health-info/gum-disease/more-info 1 1 A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs. DOID:12447 DOID:13383 DOID:14395 DOID:1484 GARD:6233 ICD10CM:E84 ICD9CM:277.0 MESH:D003550 MIM:219700 NCI:C2975 ORDO:586 SNOMEDCT_US_2023_03_01:85809002 UMLS_CUI:C0010674 CF mucoviscidosis disease_ontology DOID:1485 OMIM mapping confirmed by DO. [SN]. cystic fibrosis MESH:D003550 DOID:1485 A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs. url:http://en.wikipedia.org/wiki/Cystic_fibrosis url:http://ghr.nlm.nih.gov/condition/cystic-fibrosis url:http://www.nhlbi.nih.gov/health/health-topics/topics/cf/ url:https://www.genome.gov/Genetic-Disorders/Cystic-Fibrosis CF Syphilitic chorioretinitis (secondary) secondary syphilitic chorioretinitis (disorder) disease_ontology DOID:1486 obsolete secondary syphilitic chorioretinitis true DOID:1486 Syphilitic uveitis unspecified (disorder) Syphilitic uveitis, unspecified Uveitis due to secondary syphilis Uveitis due to secondary syphilis (disorder) secondary syphilitic uveitis (disorder) secondary syphilitic uveitis NOS (disorder) disease_ontology DOID:1487 obsolete secondary syphilitic uveitis true DOID:1487 disease_ontology DOID:1491 obsolete corneal anesthesia and hypoesthesia true DOID:1491 A sensory system disease that is located_in the eye or the adnexa of the eye. ICD10CM:H35.00 ICD9CM:362.10 UMLS_CUI:C0004608 disease_ontology DOID:1492 obsolete eye and adnexa disease true DOID:1492 A sensory system disease that is located_in the eye or the adnexa of the eye. url:http://en.wikipedia.org/wiki/Category:Diseases_of_the_eye_and_adnexa An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected. DOID:13256 DOID:13708 DOID:14154 DOID:1493 ICD10CM:B67.4 ICD9CM:122.4 SNOMEDCT_US_2023_03_01:75006000 UMLS_CUI:C0152068 Echinococcus granulosus infection Echinococcus granulosus infection of lung Echinococcus granulosus infection of thyroid Liver echinococcus granulosus Thyroid echinococcus granulosus echinococcus granulosus echinococcus granulosus infectious disease echinococcus granulosus infectious disease of liver echinococcus granulosus infectious disease of thyroid lung echinococcus granulosus unilocular echinococcosis unilocular hydatid disease disease_ontology DOID:1495 cystic echinococcosis DOID:1495 An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected. url:http://www.who.int/mediacentre/factsheets/fs377/en/ A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. DOID:12149 DOID:2783 ICD10CM:B67 ICD9CM:122 MESH:D004443 NCI:C84682 SNOMEDCT_US_2023_03_01:154414008 UMLS_CUI:C0013502 Echinococcosis of liver echinococcal disease hepatic echinococcosis hydatid disease hydatidosis liver echinococcus pulmonary echinococcosis disease_ontology DOID:1496 echinococcosis DOID:1496 A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. url:http://en.wikipedia.org/wiki/Echinococcosis url:https://www.merriam-webster.com/dictionary/echinococcosis#medicalDictionary A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. GARD:6043 ICD10CM:A00 ICD9CM:001 MESH:D002771 SNOMEDCT_US_2023_03_01:186087007 UMLS_CUI:C0008354 Cholera - Vibrio cholerae Cholera due to Vibrio cholerae Vibrio cholerae disease_ontology DOID:1498 cholera MESH:D002771 DOID:1498 A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/#what url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html Infection due to non-cholerae vibrio vibriosis disease_ontology DOID:1499 obsolete Vibrio infectious disease true DOID:1499 A disease of anatomical entity that is located_in reproductive system organs. DOID:6309 NCI:C27613 UMLS_CUI:C1335037 genital system disease disease_ontology DOID:15 reproductive system disease DOID:15 A disease of anatomical entity that is located_in reproductive system organs. url:http://en.wikipedia.org/wiki/Reproductive_system A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. ICD10CM:F99 MESH:D001523 NCI:C2893 SNOMEDCT_US_2023_03_01:74732009 UMLS_CUI:C0004936 disease_ontology DOID:150 disease of mental health DOID:150 A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. url:http://en.wikipedia.org/wiki/Mental_disorder An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. DOID:1507 ICD10CM:B37 ICD9CM:112 MESH:D002177 NCI:C26711 SNOMEDCT_US_2023_03_01:154403005 UMLS_CUI:C0006840 Disseminated candidiasis systemic candidiasis disease_ontology DOID:1508 candidiasis DOID:1508 An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. url:http://en.wikipedia.org/wiki/Candidiasis A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction. ICD10CM:F60.6 ICD9CM:301.82 MESH:D010554 NCI:C92636 SNOMEDCT_US_2023_03_01:191771004 UMLS_CUI:C0004444 anxious personality disorder disease_ontology DOID:1509 avoidant personality disorder DOID:1509 A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction. url:http://en.wikipedia.org/wiki/Avoidant_personality_disorder A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. ICD9CM:301.8 SNOMEDCT_US_2023_03_01:191770003 UMLS_CUI:C0029707 character disorder disease_ontology DOID:1510 personality disorder DOID:1510 A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. url:http://www.nlm.nih.gov/medlineplus/personalitydisorders.html disease_ontology DOID:1511 obsolete residual schizophrenia chronic state with acute exacerbation true DOID:1511 A chronic cervicitis that is caused by gonorrhea. ICD9CM:098.35 SNOMEDCT_US_2023_03_01:76802005 UMLS_CUI:C0153206 Gonococcal cervicitis, chronic chronic gonococcal cervicitis disease_ontology DOID:1512 chronic gonorrhea of cervix DOID:1512 A chronic cervicitis that is caused by gonorrhea. url:https://en.wikipedia.org/wiki/Gonorrhea A cervicitis that is present for weeks or more. NCI:C27057 SNOMEDCT_US_2023_03_01:198210003 UMLS_CUI:C0269062 disease_ontology DOID:1513 chronic cervicitis DOID:1513 A cervicitis that is present for weeks or more. url:https://www.ncbi.nlm.nih.gov/pubmed/27243142 Syphilitic endocarditis of mitral valve (disorder) disease_ontology DOID:1515 obsolete mitral valve syphilitic endocarditis true DOID:1515 Syphilitic endocarditis (disorder) disease_ontology DOID:1516 obsolete syphilitic endocarditis true DOID:1516 An intestinal benign neoplasm that is located_in the cecum. MESH:D002430 NCI:C4433 SNOMEDCT_US_2023_03_01:126839008 UMLS_CUI:C0007528 cecum neoplasm neoplasm of caecum disease_ontology DOID:1517 cecal benign neoplasm DOID:1517 An intestinal benign neoplasm that is located_in the cecum. url:http://en.wikipedia.org/wiki/Cecum An intestinal disease located_in the cecum. MESH:D002429 SNOMEDCT_US_2023_03_01:128525008 UMLS_CUI:C0007527 disorder of cecum disease_ontology DOID:1518 cecal disease DOID:1518 An intestinal disease located_in the cecum. url:https://en.wikipedia.org/wiki/Cecum A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C3491 SNOMEDCT_US_2023_03_01:269538009 UMLS_CUI:C0149640 Caecum carcinoma Cecal cancer carcinoma of cecum disease_ontology DOID:1519 cecum carcinoma DOID:1519 A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C4910 SNOMEDCT_US_2023_03_01:154454005 UMLS_CUI:C0699790 Colonic carcinoma carcinoma of colon disease_ontology DOID:1520 OMIM mapping confirmed by DO. [SN]. colon carcinoma DOID:1520 A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A large intestine cancer that is located_in the cecum. ICD10CM:C18.0 ICD9CM:153.4 MESH:D002430 NCI:C9329 SNOMEDCT_US_2023_03_01:93736007 UMLS_CUI:C0153437 malignant neoplasm of caecum malignant tumor of the cecum disease_ontology DOID:1521 cecum cancer DOID:1521 A large intestine cancer that is located_in the cecum. url:http://en.wikipedia.org/wiki/Cecum NCI:C5515 UMLS_CUI:C1332867 Cecal Lymphoma disease_ontology DOID:1522 cecum lymphoma DOID:1522 NCI:C4793 SNOMEDCT_US_2023_03_01:133751000119102 UMLS_CUI:C0519037 Colonic Lymphoma disease_ontology DOID:1523 colon lymphoma DOID:1523 ICD10CM:M35.6 MESH:D010201 SNOMEDCT_US_2023_03_01:203120002 UMLS_CUI:C0030328 Relapsing febrile nodular nonsuppurative panniculitis Weber - Christian disease Weber-Christian disease nodular non-suppurative febrile panniculitis disease_ontology DOID:1525 nodular nonsuppurative panniculitis DOID:1525 A skin disease that is characterized by inflammation of subcutaneous adipose tissue. ICD10CM:M79.3 ICD9CM:729.30 MESH:D015434 NCI:C112112 SNOMEDCT_US_2023_03_01:268122002 UMLS_CUI:C0030326 disease_ontology DOID:1526 panniculitis DOID:1526 A skin disease that is characterized by inflammation of subcutaneous adipose tissue. url:https://en.wikipedia.org/wiki/Panniculitis disease_ontology DOID:1528 obsolete penile non-neoplastic disease true DOID:1528 ICD10CM:N48.8 ICD9CM:607.8 SNOMEDCT_US_2023_03_01:198558008 UMLS_CUI:C0029785 disease_ontology DOID:1529 penile disease DOID:1529 A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue. Fibroepithelial neoplasm (morphologic abnormality) Fibroepithelial neoplasm NOS (morphologic abnormality) Fibroepithelial tumor Fibroepithelial tumor (qualifier value) disease_ontology DOID:153 obsolete fibroepithelial neoplasm true DOID:153 A mixed neoplasm that consist of epithelial tissue, and stromal or mesenchymal tissue. url:http://en.wikipedia.org/wiki/Fibroepithelial_neoplasm disease_ontology DOID:1530 obsolete male non-neoplastic reproductive system disease true DOID:1530 A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism. DOID:1531 MESH:D010995 NCI:C26859 SNOMEDCT_US_2023_03_01:88075009 UMLS_CUI:C0032226 disorder of pleura non-neoplastic pleural disease disease_ontology DOID:1532 pleural disease DOID:1532 A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism. url:http://en.wikipedia.org/wiki/Pleural_disease A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue. DOID:1905 MESH:D018198 NCI:C3729 NCI:C6930 SNOMEDCT_US_2023_03_01:8145008 UMLS_CUI:C0206625 UMLS_CUI:C1368354 malignant mixed cancer malignant mixed neoplasm mixed tumor mixed tumor, malignant disease_ontology malignant mixed tumor mixed neoplasm DOID:154 mixed cell type cancer DOID:154 A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue. url:http://medical-dictionary.thefreedictionary.com/mixed+neoplasm An endocrine gland cancer located_in the parathyroid glands located in the neck. DOID:11006 DOID:1541 GARD:7329 ICD10CM:C75.0 ICD9CM:194.1 MESH:D010282 MIM:608266 NCI:C3313 NCI:C4906 NCI:C9322 SNOMEDCT_US_2023_03_01:127020005 SNOMEDCT_US_2023_03_01:255037004 SNOMEDCT_US_2023_03_01:363481002 UMLS_CUI:C0030521 UMLS_CUI:C0153653 UMLS_CUI:C0687150 Parathyroid gland neoplasm carcinoma of Parathyroid gland malignant neoplasm of parathyroid gland malignant neoplasm of the Parathyroid malignant tumor of parathyroid gland neoplasm of parathyroid gland parathyroid gland cancer parathyroid neoplasm disease_ontology parathyroid gland adenocarcinoma DOID:1540 OMIM mapping confirmed by DO. [SN]. parathyroid carcinoma DOID:1540 An endocrine gland cancer located_in the parathyroid glands located in the neck. url:http://en.wikipedia.org/wiki/Parathyroid_gland A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx. NCI:C6077 UMLS_CUI:C1334927 carcinoma of the neck disease_ontology carcinoma of neck DOID:1542 head and neck carcinoma DOID:1542 A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx. url:http://en.wikipedia.org/wiki/Head_and_neck_cancer url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.09e&code=C35850&ns=NCI_Thesaurus&key=153772862&b=1&n=null url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck metastatic tumor of Parathyroid disease_ontology DOID:1543 obsolete metastatic neoplasm of parathyroid true DOID:1543 disease_ontology DOID:155 obsolete glandular and epithelial neoplasm true DOID:155 DOID:1549 Diabetes mellitus in the pueperium - baby delivered during previous episode of care (disorder) Diabetes mellitus, postpartum disease_ontology DOID:1550 obsolete gestational diabetes complicating pregnancy, childbirth, or the puerperium true DOID:1550 A physical urticaria that is characterized by itching, reddish skin and swelling within minutes of local exposure to dermal vibration and that has_material_basis_in heterozygous mutation in the ADGRE2 gene on chromosome 19p13. GARD:9806 ICD10CM:L50.4 ICD9CM:708.4 MESH:D000094482 MIM:125630 SNOMEDCT_US_2023_03_01:51247001 UMLS_CUI:C0157743 disease_ontology DOID:1554 vibratory urticaria DOID:1554 A physical urticaria that is characterized by itching, reddish skin and swelling within minutes of local exposure to dermal vibration and that has_material_basis_in heterozygous mutation in the ADGRE2 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/26841242/ A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis. ICD9CM:708.8 SNOMEDCT_US_2023_03_01:267817001 UMLS_CUI:C0029839 disease_ontology DOID:1555 urticaria DOID:1555 A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis. url:http://en.wikipedia.org/wiki/Urticaria A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls. ICD10CM:T78.41 ICD9CM:995.21 MESH:D001183 NCI:C34400 SNOMEDCT_US_2023_03_01:402413008 UMLS_CUI:C0003907 Arthus phenomenon Arthus type urticaria disease_ontology DOID:1556 arthus reaction DOID:1556 A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls. url:https://en.wikipedia.org/wiki/Arthus_reaction A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury. MESH:D007105 UMLS_CUI:C0020951 immune complex disease disease_ontology DOID:1557 hypersensitivity reaction type III disease DOID:1557 A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury. url:https://en.wikipedia.org/wiki/Type_III_hypersensitivity A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues. ICD10CM:T78.3 MESH:D000799 NCI:C112175 SNOMEDCT_US_2023_03_01:41291007 UMLS_CUI:C0002994 Angioneurotic oedema Quincke's edema angioneurotic edema giant urticaria disease_ontology DOID:1558 angioedema DOID:1558 A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues. url:http://en.wikipedia.org/wiki/Angioedema url:https://www.ncbi.nlm.nih.gov/books/NBK430889/ A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. ICD10CM:F09 MESH:D019965 NCI:C34870 SNOMEDCT_US_2023_03_01:111479008 UMLS_CUI:C0029227 cognitive disease disease_ontology Organic Mental disorder DOID:1561 cognitive disorder DOID:1561 A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. url:http://en.wikipedia.org/wiki/Cognitive_disorder A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. GARD:1319 ICD10CM:B43.9 ICD9CM:117.2 MESH:D002862 SNOMEDCT_US_2023_03_01:187079000 UMLS_CUI:C0008582 Chromomycosis Mossy foot disease disease_ontology DOID:1562 chromoblastomycosis DOID:1562 A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4005 A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes. ICD9CM:111.9 MESH:D003881 SNOMEDCT_US_2023_03_01:47382004 UMLS_CUI:C0011630 disease_ontology DOID:1563 dermatomycosis DOID:1563 A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4004 A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body. ICD10CM:B49 ICD9CM:110-118.99 MESH:D009181 NCI:C3245 SNOMEDCT_US_2023_03_01:154393000 UMLS_CUI:C0026946 mycosis disease_ontology mycoses DOID:1564 fungal infectious disease DOID:1564 A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body. url:http://en.wikipedia.org/wiki/Mycoses DOID:1567 calculus of gallbladder and bile duct with acute and chronic cholecystitis, with obstruction disease_ontology DOID:1568 obsolete calculus of gallbladder and bile duct with acute and chronic cholecystitis true DOID:1568 ICD9CM:374.12 SNOMEDCT_US_2023_03_01:45020000 UMLS_CUI:C0155194 disease_ontology DOID:1569 mechanical ectropion DOID:1569 A carcinoma that derives_from the cells that line an organ. DOID:3806 epithelial skin tumor epithelial tumor (qualifier value) skin Epithelium tumor tumor of surface epithelium (disorder) disease_ontology epithelial neoplasm DOID:157 obsolete epithelial carcinoma true DOID:157 A carcinoma that derives_from the cells that line an organ. url:http://www.cancer.gov/dictionary/?CdrID=46422 ICD10CM:H02.1 ICD9CM:374.1 MESH:D004483 SNOMEDCT_US_2023_03_01:155178000 UMLS_CUI:C0013592 Ectropion of eyelid Everted margin disease_ontology DOID:1570 ectropion DOID:1570 ICD9CM:374.13 SNOMEDCT_US_2023_03_01:80846000 UMLS_CUI:C0155195 disease_ontology DOID:1571 spastic ectropion DOID:1571 ICD10CM:G91.2 MESH:D006850 MIM:236690 SNOMEDCT_US_2023_03_01:30753002 UMLS_CUI:C0020258 Low pressure hydrocephalus disease_ontology DOID:1572 OMIM mapping confirmed by DO. [SN]. normal pressure hydrocephalus DOID:1572 ICD10CM:G91.0 ICD9CM:331.3 MESH:D006849 NCI:C34501 SNOMEDCT_US_2023_03_01:59013007 UMLS_CUI:C0009451 disease_ontology DOID:1573 communicating hydrocephalus DOID:1573 A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. ICD10CM:F10.1 ICD9CM:305.0 MESH:D000437 NCI:C20701 SNOMEDCT_US_2023_03_01:15167005 UMLS_CUI:C0085762 Ethanol abuse alcohol abuse disease_ontology DOID:1574 alcohol use disorder DOID:1574 A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. url:http://en.wikipedia.org/wiki/Alcohol_abuse url:https://www.niaaa.nih.gov/alcohol-health/overview-alcohol-consumption/alcohol-use-disorders A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue. disease_ontology DOID:1575 rheumatic disease DOID:1575 A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue. url:http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp MESH:D045745 SNOMEDCT_US_2023_03_01:128459005 UMLS_CUI:C0748540 Limited cutaneous systemic sclerosis systemic sclerosis, limited disease_ontology DOID:1577 limited scleroderma DOID:1577 ICD10CM:M34.81 ICD9CM:517.2 SNOMEDCT_US_2023_03_01:196133001 UMLS_CUI:C0339904 lung disease with systemic sclerosis lung involvement in systemic sclerosis disease_ontology DOID:1578 pulmonary systemic sclerosis DOID:1578 A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. DOID:3226 ICD10CM:J98 ICD9CM:519 SNOMEDCT_US_2023_03_01:155603009 UMLS_CUI:C0029582 disease_ontology DOID:1579 respiratory system disease DOID:1579 A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. url:http://en.wikipedia.org/wiki/File:Respiratory_system_complete_en.svg url:https://www.merriam-webster.com/dictionary/respiratory%20system#medicalDictionary MESH:D045743 NCI:C116791 SNOMEDCT_US_2023_03_01:128460000 UMLS_CUI:C1258104 diffuse systemic sclerosis systemic sclerosis, diffuse disease_ontology DOID:1580 diffuse scleroderma DOID:1580 A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia. ICD10CM:A15.5 ICD9CM:012.3 MESH:D014387 NCI:C26895 SNOMEDCT_US_2023_03_01:70341005 UMLS_CUI:C0041315 disease_ontology DOID:1583 laryngeal tuberculosis DOID:1583 A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia. url:http://www.cdc.gov/mmwr/PDF/rr/rr5417.pdf url:http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16749607 url:http://www.springerlink.com/content/58281g77v7054641/fulltext.pdf A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph. ICD9CM:517.3 MESH:D056586 NCI:C138179 SNOMEDCT_US_2023_03_01:372146004 UMLS_CUI:C0742343 acute chest syndrome in sickle cell disease disease_ontology DOID:1584 acute chest syndrome MESH:D056586 DOID:1584 A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph. url:http://en.wikipedia.org/wiki/Acute_chest_syndrome Rheumatic pneumonia (disorder) disease_ontology DOID:1585 obsolete rheumatic pneumonia true DOID:1585 A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever. DOID:1006 DOID:1007 GARD:5699 ICD10CM:I00 ICD10CM:I00-I02 ICD9CM:390 ICD9CM:390-392.99 MESH:D012213 NCI:C34984 SNOMEDCT_US_2023_03_01:155265007 SNOMEDCT_US_2023_03_01:274095001 UMLS_CUI:C0035436 UMLS_CUI:C0264743 ACUTE RHEUMATIC FEVER RhF - Rheumatic fever disease_ontology DOID:1586 rheumatic fever MESH:D012213 DOID:1586 A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever. url:https://en.wikipedia.org/wiki/Rheumatic_fever url:https://medlineplus.gov/ency/article/003940.htm NCI:C3991 SNOMEDCT_US_2023_03_01:2897005 UMLS_CUI:C0272286 Auto-immune thrombocytopenia Immune thrombocytopenia Thrombocytopenia Due to Immune Destruction disease_ontology DOID:1587 thrombocytopenia due to platelet alloimmunization DOID:1587 A blood platelet disease that is characterized by low a platelet count in the blood. ICD10CM:D69.6 ICD9CM:287.5 MESH:D013921 MIM:188000 MIM:273900 MIM:300367 MIM:313900 MIM:612004 ORDO:852 SNOMEDCT_US_2023_03_01:165556002 UMLS_CUI:C0040034 disease_ontology DOID:1588 Xref MGI. thrombocytopenia DOID:1588 A blood platelet disease that is characterized by low a platelet count in the blood. url:http://en.wikipedia.org/wiki/Thrombocytopenia url:http://ghr.nlm.nih.gov/glossary=thrombocytopenia url:http://www.merckmanuals.com/professional/hematology_and_oncology/thrombocytopenia_and_platelet_dysfunction/overview_of_platelet_disorders.html Mesothelial neoplasm (morphologic abnormality) Mesothelial neoplasm NOS (morphologic abnormality) Mesothelial tumor Mesothelial tumor morphology (qualifier value) disease_ontology DOID:159 obsolete mesothelial neoplasm true DOID:159 ICD10CM:I15.0 MESH:D006978 NCI:C85044 SNOMEDCT_US_2023_03_01:123799005 UMLS_CUI:C0020545 disease_ontology DOID:1591 renovascular hypertension DOID:1591 secondary malignant neoplasm of retroperitoneum and peritoneum (disorder) secondary malignant neoplasm of retroperitoneum or peritoneum NOS (disorder) disease_ontology DOID:1592 obsolete secondary malignant neoplasm of retroperitoneum and peritoneum true DOID:1592 metastatic neoplasm to the Peritoneum secondary malignant neoplasm of the peritoneum (disorder) disease_ontology DOID:1593 obsolete metastasis to the peritoneum true DOID:1593 A major depressive disorder characterized by near-complete absence of pleasure. DOID:2848 DOID:6340 MESH:D003866 MIM:608516 NCI:C34532 NCI:C35094 SNOMEDCT_US_2023_03_01:191599006 UMLS_CUI:C0011573 UMLS_CUI:C0041696 endogenous depression major depressive disorder with melancholic features melancholia disease_ontology DOID:1595 OMIM mapping confirmed by DO. [LS]. melancholic depression DOID:1595 A major depressive disorder characterized by near-complete absence of pleasure. url:https://pubmed.ncbi.nlm.nih.gov/15596079/ A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function. DOID:14672 ICD10CM:F33.9 MESH:D003863 NCI:C2982 SNOMEDCT_US_2023_03_01:41006004 UMLS_CUI:C0011570 mental depression disease_ontology depression DOID:1596 depressive disorder UMLS_CUI:C0011570 MESH:D003866 NCI:C2982 SNOMEDCT_US_2023_02_28:35489007 DOID:1596 A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function. url:https://my.clevelandclinic.org/health/diseases/9290-depression url:https://pubmed.ncbi.nlm.nih.gov/31550874/ Major depressive disorder, single episode, mild degree Mild major depression, single episode (disorder) Single major depressive episode, mild (disorder) disease_ontology DOID:1597 obsolete single episode mild major depression true DOID:1597 Major depressive disorder, single episode, moderate degree Moderate major depression, single episode (disorder) Single major depressive episode, moderate (disorder) disease_ontology DOID:1599 obsolete single episode moderate major depression true DOID:1599 A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. disease_ontology DOID:16 integumentary system disease DOID:16 A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. url:http://en.wikipedia.org/wiki/Integumentary_system A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes. DOID:1600 DOID:9941 ICD10CM:I88.1 ICD10CM:L04 ICD9CM:289.1 ICD9CM:683 MESH:D008199 NCI:C26821 NCI:C26966 NCI:C26978 SNOMEDCT_US_2023_03_01:154836001 SNOMEDCT_US_2023_03_01:156318008 SNOMEDCT_US_2023_03_01:19471005 UMLS_CUI:C0024205 UMLS_CUI:C0154304 UMLS_CUI:C0157705 Adenitis Inflammation of lymph node acute adenitis acute lymphadenitis chronic Lymphadenitis chronic adenitis disease_ontology DOID:1602 This doid includes the acute and chronic forms.[LS] lymphadenitis DOID:1602 A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes. url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/lymphadenitis A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma. ICD10CM:E15 ICD9CM:251.0 NCI:C181765 SNOMEDCT_US_2023_03_01:267476006 UMLS_CUI:C0020617 disease_ontology DOID:1607 hypoglycemic coma DOID:1607 A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma. url:https://en.wikipedia.org/wiki/Hypoglycemia url:https://www.mayoclinic.org/diseases-conditions/diabetic-coma/symptoms-causes/syc-20371475 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1838950/ A skin disease characterized_by growth of keratin on the skin or mucous membranes. MESH:D007642 NCI:C34747 SNOMEDCT_US_2023_03_01:254666005 UMLS_CUI:C0022593 disease_ontology DOID:161 keratosis DOID:161 A skin disease characterized_by growth of keratin on the skin or mucous membranes. url:https://en.wikipedia.org/wiki/Keratosis An organ system cancer that originates in the mammary gland. DOID:1648 DOID:4241 ICD10CM:C50 MESH:D001943 MIM:114480 NCI:C9335 SNOMEDCT_US_2023_03_01:254837009 UMLS_CUI:C0006142 breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer disease_ontology mammary neoplasm DOID:1612 Xref MGI. OMIM mapping confirmed by DO. [SN]. breast cancer DOID:1612 An organ system cancer that originates in the mammary gland. url:http://en.wikipedia.org/wiki/Breast_cancer url:http://en.wikipedia.org/wiki/Mammary url:http://www.cancer.gov/cancertopics/types/breast url:http://www.nlm.nih.gov/medlineplus/breastcancer.html url:https://www.genome.gov/Genetic-Disorders/Breast-Cancer A breast cancer that occurs in males. DOID:9796 GARD:9312 MESH:D018567 SNOMEDCT_US_2023_03_01:126937006 UMLS_CUI:C0242788 malignant neoplasm of male breast neoplasm of male breast disease_ontology DOID:1614 male breast cancer DOID:1614 A breast cancer that occurs in males. url:https://www.ncbi.nlm.nih.gov/pubmed/24131976 A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit). NCI:C5193 UMLS_CUI:C1332492 disease_ontology DOID:1616 benign eccrine breast spiradenoma DOID:1616 A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit). url:https://www.ncbi.nlm.nih.gov/pubmed/25284865/ url:https://www.ncbi.nlm.nih.gov/pubmed/26236527/ A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. DOID:2684 DOID:2693 DOID:7226 ICD10CM:D24 MESH:D018226 NCI:C3744 NCI:C4276 NCI:C5194 SNOMEDCT_US_2023_03_01:254847007 SNOMEDCT_US_2023_03_01:269640007 SNOMEDCT_US_2023_03_01:65877006 UMLS_CUI:C0178421 UMLS_CUI:C0206650 UMLS_CUI:C0346158 UMLS_CUI:C1333137 Complex Fibroadenoma of breast Fibroadenoma of breast Juvenile fibroadenoma cellular Fibroadenoma fibroadenoma juvenile fibroadenoma of breast disease_ontology DOID:1618 breast fibroadenoma DOID:1618 A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. url:http://en.wikipedia.org/wiki/Fibroadenoma url:http://www.nlm.nih.gov/medlineplus/ency/article/007216.htm A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. ICD10CM:C80.1 ICD9CM:199 ICDO:8000/3 MESH:D009369 NCI:C9305 SNOMEDCT_US_2023_03_01:269513004 UMLS_CUI:C0006826 malignant neoplasm malignant tumor primary cancer disease_ontology DOID:162 Updating out dated UMLS CUI. cancer DOID:162 A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. url:http://en.wikipedia.org/wiki/cancer url:https://www.merriam-webster.com/dictionary/cancer#medicalDictionary disease_ontology DOID:1620 obsolete breast fibroepithelial tumor true DOID:1620 A breast benign neoplasm that has_material_basis_in smooth muscle cells. NCI:C40399 UMLS_CUI:C1511317 disease_ontology DOID:1623 breast leiomyoma DOID:1623 A breast benign neoplasm that has_material_basis_in smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094828/ disease_ontology DOID:1624 obsolete breast soft tissue tumor true DOID:1624 A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures. NCI:C40382 SNOMEDCT_US_2023_03_01:269640007 UMLS_CUI:C1328385 Ademoma - breast disease_ontology DOID:1625 breast adenoma DOID:1625 A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures. url:https://www.ncbi.nlm.nih.gov/pubmed/949710 An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue. NCI:C3863 SNOMEDCT_US_2023_03_01:254848002 UMLS_CUI:C0238034 duct papilloma of breast papilloma of the breast disease_ontology DOID:1626 breast duct papilloma DOID:1626 An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue. url:https://en.wikipedia.org/wiki/Intraductal_papilloma ICDO:8503/0 MESH:D018300 NCI:C3785 SNOMEDCT_US_2023_03_01:5244003 UMLS_CUI:C0206713 ductal papilloma disease_ontology DOID:1627 intraductal papilloma DOID:1627 An intraductal breast benign neoplasm that is characterized by fingerlike growth projections. NCI:C36090 UMLS_CUI:C1334252 disease_ontology DOID:1628 intraductal papillary breast neoplasm DOID:1628 An intraductal breast benign neoplasm that is characterized by fingerlike growth projections. url:https://www.ncbi.nlm.nih.gov/pubmed/22336153 A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation. NCI:C40397 UMLS_CUI:C1511320 disease_ontology DOID:1629 breast myofibroblastoma DOID:1629 A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation. url:http://www.pathologyoutlines.com/topic/breastmyofibroblastoma.html url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199680/ Mucoepidermoid neoplasm (morphologic abnormality) Mucoepidermoid neoplasm (morphology) Mucoepidermoid neoplasm NOS (morphologic abnormality) Mucoepidermoid tumor [obs] disease_ontology DOID:163 obsolete mucoepidermoid tumor true DOID:163 A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast. DOID:1633 DOID:2608 ICD10CM:D48.6 MESH:D003557 NCI:C2977 NCI:C4274 NCI:C5196 SNOMEDCT_US_2023_03_01:16566002 SNOMEDCT_US_2023_03_01:71232009 SNOMEDCT_US_2023_03_01:720344007 UMLS_CUI:C0010701 UMLS_CUI:C0334501 UMLS_CUI:C1332533 Cystosarcoma phyllodes Phyllodes neoplasm benign Phyllodes neoplasm benign Phyllodes neoplasm of the breast benign cystosarcoma phyllodes disease_ontology DOID:1631 benign breast phyllodes tumor DOID:1631 A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast. url:https://en.wikipedia.org/wiki/Phyllodes_tumor disease_ontology DOID:1634 obsolete breast papillomatosis true DOID:1634 A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia. NCI:C40381 UMLS_CUI:C1511284 disease_ontology DOID:1637 breast angiomatosis DOID:1637 A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia. url:https://www.ncbi.nlm.nih.gov/pubmed/23488550 An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord. DOID:0050121 DOID:0050122 DOID:10094 DOID:1640 ICD9CM:013.2 MESH:D016862 SNOMEDCT_US_2023_03_01:40769007 UMLS_CUI:C0085388 intracranial tuberculoma tuberculoma of brain tuberculosis of meninges and central nervous system tuberculous abscess of brain disease_ontology DOID:1638 central nervous system tuberculosis DOID:1638 An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord. url:https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf An extrapulmonary tuberculosis that results in formation of lesions located in bone. ICD10CM:A18.0 ICD9CM:015.9 MESH:D014394 SNOMEDCT_US_2023_03_01:154287006 UMLS_CUI:C0041324 osteoarticular tuberculosis disease_ontology DOID:1639 skeletal tuberculosis DOID:1639 An extrapulmonary tuberculosis that results in formation of lesions located in bone. url:http://en.wikipedia.org/wiki/Bone_Tuberculosis cystic, mucinous and serous neoplasm (morphologic abnormality) cystic, mucinous and serous tumor (qualifier value) disease_ontology DOID:164 obsolete cystic, mucinous, and serous neoplasm true DOID:164 A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells. NCI:C5144 UMLS_CUI:C1332477 benign Adenomyoepithelioma of the breast disease_ontology DOID:1641 benign breast adenomyoepithelioma DOID:1641 A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells. url:https://www.ncbi.nlm.nih.gov/pubmed/23627458 A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells. DOID:6640 NCI:C5143 NCI:C6899 UMLS_CUI:C1334564 UMLS_CUI:C1510795 breast Adenomyoepithelioma with malignant Change malignant adenomyoepithelioma of breast disease_ontology adenomyoepithelioma of the breast DOID:1642 breast adenomyoepithelioma DOID:1642 A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells. url:http://www.ajronline.org/cgi/content/full/180/3/799 A female breast cancer that is located_in the upper-inner quadrant of the breast. ICD9CM:174.2 SNOMEDCT_US_2023_03_01:188152004 UMLS_CUI:C0153550 malignant neoplasm of upper-inner quadrant of female breast disease_ontology DOID:1647 female breast upper-inner quadrant cancer DOID:1647 A female breast cancer that is located_in the upper-inner quadrant of the breast. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/ A female breast cancer that is located_in the lower-inner quadrant of the breast. ICD10CM:C50.31 ICD9CM:174.3 SNOMEDCT_US_2023_03_01:188153009 UMLS_CUI:C0153551 malignant neoplasm of lower-inner quadrant of female breast disease_ontology DOID:1649 female breast lower-inner quadrant cancer DOID:1649 A female breast cancer that is located_in the lower-inner quadrant of the breast. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/ A female breast cancer that is located_in the breast tissue extending into the axilla. ICD10CM:C50.61 ICD9CM:174.6 SNOMEDCT_US_2023_03_01:93685009 UMLS_CUI:C0153554 malignant neoplasm of axillary tail of female breast disease_ontology DOID:1650 female breast axillary tail cancer DOID:1650 A female breast cancer that is located_in the breast tissue extending into the axilla. url:https://en.wikipedia.org/wiki/Tail_of_Spence url:https://www.ncbi.nlm.nih.gov/pubmed/24004816, A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. GARD:7853 ICD10CM:Q21.0 ICD9CM:745.4 MESH:D006345 MIM:614429 MIM:614431 MIM:614432 NCI:C84506 ORDO:1480 SNOMEDCT_US_2023_03_01:156914003 UMLS_CUI:C0018818 Interventricular septal defect Ventricular septal abnormality disease_ontology DOID:1657 Xref MGI. ventricular septal defect DOID:1657 A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. url:http://en.wikipedia.org/wiki/Ventricular_septal_defect url:http://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/ventricular_septal_defect_vsd.html A brain cancer that is located in the supratentorial region. DOID:1658 ICD10CM:C71.0 MESH:D015173 NCI:C3397 NCI:C4964 UMLS_CUI:C0038874 UMLS_CUI:C0751589 Brain neoplasm, Supratentorial malignant Supratentorial tumor disease_ontology DOID:1659 supratentorial cancer DOID:1659 A brain cancer that is located in the supratentorial region. url:http://en.wikipedia.org/wiki/Tentorium_cerebelli ICDO:9363/0 MESH:D017600 NCI:C3717 SNOMEDCT_US_2023_03_01:1513001 UMLS_CUI:C0206094 Infantile Melanotic neuroectodermal neoplasm Melanotic neuroectodermal tumor of infancy Melanotic neuroectodermal tumour of infancy Pigmented neuroectodermal tumour of infancy melanotic neuroectodermal tumour disease_ontology DOID:166 melanotic neuroectodermal tumor DOID:166 DOID:1663 GARD:12017 NCI:C4659 NCI:C6767 SNOMEDCT_US_2023_03_01:277508009 UMLS_CUI:C0349621 UMLS_CUI:C1334612 Pineal Region germ cell tumor malignant Pineal Parenchymal germ cell tumor pineal germ cell tumor disease_ontology DOID:1660 malignant pineal area germ cell neoplasm DOID:1660 disease_ontology DOID:1661 obsolete malignant intracranial germ cell neoplasm true DOID:1661 A pineal gland neoplasm located_in the brain. GARD:9369 ICDO:9362/3 MESH:D010871 NCI:C9344 SNOMEDCT_US_2023_03_01:31671006 UMLS_CUI:C0205898 Pineal PNET disease_ontology DOID:1664 pineoblastoma DOID:1664 A pineal gland neoplasm located_in the brain. url:http://en.wikipedia.org/wiki/Pinealoblastoma url:https://www.ncbi.nlm.nih.gov/pubmed/28327927 An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord. embryonal tumor of the CNS disease_ontology embryonal neoplasm of CNS DOID:1665 obsolete central nervous system embryonal cancer true DOID:1665 An embryonal cancer that are masses of rapidly growing cells that originates in embryonic (fetal) tissue in the brain and spinal cord. url:http://www.cancer.gov/cancertopics/childCNSembryonal Enthesopathy of hip region Enthesopathy of hip region (disorder) Enthesopathy of the hip region Enthesopathy of the hip region (disorder) Hip enthesopathy NOS (disorder) Hip enthesopathy, unspecified (disorder) disease_ontology DOID:1666 obsolete hip enthesopathy true DOID:1666 disease_ontology DOID:1667 obsolete peripheral enthesopathy true DOID:1667 DOID:12407 DOID:12810 DOID:12982 DOID:1669 DOID:1671 DOID:7354 DOID:8473 DOID:8522 ICD9CM:711.2 NCI:C35225 SNOMEDCT_US_2023_03_01:62918002 UMLS_CUI:C0157770 Arthropathy in Behcet's syndrome involving ankle and foot Arthropathy in Behcet's syndrome involving forearm Arthropathy in Behcet's syndrome involving hand Arthropathy in Behcet's syndrome involving lower leg Arthropathy in Behcet's syndrome involving multiple sites Arthropathy in Behcet's syndrome involving pelvic region and thigh Arthropathy in Behcet's syndrome involving shoulder region Arthropathy in Behcet's syndrome involving upper arm Behcet syndrome arthropathy disease_ontology DOID:1670 Behcet's syndrome arthropathy DOID:1670 A pneumothorax that is characterized by a pneumothorax in which the pressure of intrapleural gas exceeds atmospheric pressure resulting in acute onset chest pain and shortness of breath. ICD10CM:J93.0 ICD9CM:512.0 SNOMEDCT_US_2023_03_01:76537003 UMLS_CUI:C0155907 disease_ontology DOID:1672 spontaneous tension pneumothorax DOID:1672 A pneumothorax that is characterized by a pneumothorax in which the pressure of intrapleural gas exceeds atmospheric pressure resulting in acute onset chest pain and shortness of breath. url:https://www.ncbi.nlm.nih.gov/pubmed/29961427 A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall. ICD10CM:J93.1 SNOMEDCT_US_2023_03_01:196103008 UMLS_CUI:C0029850 disease_ontology DOID:1673 pneumothorax MESH:D011030 DOID:1673 A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall. url:https://en.wikipedia.org/wiki/Pneumothorax url:https://medlineplus.gov/ency/article/000087.htm DOID:1676 DOID:2167 ICD9CM:641.0 SNOMEDCT_US_2023_03_01:198897009 UMLS_CUI:C0156617 disease_ontology DOID:1677 low implantation of placenta DOID:1677 A chronic cystitis characterized by unpleasant sensation related to the bladder and lower urinary tract in the absence of identifiable causes and has_symptom pain, has_symptom pressure, has_symptom discomfort, has_symptom dysuria, and/or has_symptom urinary frequency. ICD10CM:N30.1 ICD9CM:595.1 MESH:D018856 SNOMEDCT_US_2023_03_01:44497007 UMLS_CUI:C0600040 disease_ontology DOID:1678 chronic interstitial cystitis DOID:1678 A chronic cystitis characterized by unpleasant sensation related to the bladder and lower urinary tract in the absence of identifiable causes and has_symptom pain, has_symptom pressure, has_symptom discomfort, has_symptom dysuria, and/or has_symptom urinary frequency. url:https://en.wikipedia.org/wiki/Interstitial_cystitis url:https://www.mayoclinic.org/diseases-conditions/interstitial-cystitis/symptoms-causes/syc-20354357 A bladder disease that is characterized by inflammation of the bladder. ICD10CM:N30 ICD9CM:595 MESH:D003556 NCI:C26738 SNOMEDCT_US_2023_03_01:38822007 UMLS_CUI:C0010692 disease_ontology DOID:1679 cystitis DOID:1679 A bladder disease that is characterized by inflammation of the bladder. url:https://www.mayoclinic.org/diseases-conditions/cystitis/symptoms-causes/syc-20371306 ICD10CM:N30.2 ICD9CM:595.2 SNOMEDCT_US_2023_03_01:197839008 UMLS_CUI:C0156268 disease_ontology DOID:1680 chronic cystitis DOID:1680 ICD10CM:Q21.9 MESH:D006343 NCI:C84482 SNOMEDCT_US_2023_03_01:204290008 UMLS_CUI:C0018816 Cardiac septal defects Congenital septal defect of heart septal defect disease_ontology DOID:1681 heart septal defect DOID:1681 A heart disease that is characterized by problems with the heart's structure that are present at birth. ICD10CM:Q24.9 ICD9CM:746.9 MESH:D006330 NCI:C34666 SNOMEDCT_US_2023_03_01:268315002 UMLS_CUI:C0018798 Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect disease_ontology Heart-congenital defect DOID:1682 OMIM mapping confirmed by DO. [SN]. congenital heart disease DOID:1682 A heart disease that is characterized by problems with the heart's structure that are present at birth. url:https://www.nhlbi.nih.gov/health/congenital-heart-defects disease_ontology DOID:1685 obsolete glaucoma associated with vascular disorder true DOID:1685 An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. ICD10CM:H40 ICD9CM:365 MESH:D005901 NCI:C26782 SNOMEDCT_US_2023_03_01:155120009 UMLS_CUI:C0017601 disease_ontology DOID:1686 glaucoma DOID:1686 An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. url:https://en.wikipedia.org/wiki/Glaucoma url:https://www.aao.org/eye-health/diseases/what-is-glaucoma A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases. MESH:D015355 SNOMEDCT_US_2023_03_01:193564003 UMLS_CUI:C0017609 secondary angle-closure glaucoma with rubeosis disease_ontology DOID:1687 neovascular glaucoma DOID:1687 A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases. url:https://journalretinavitreous.biomedcentral.com/articles/10.1186/s40942-016-0051-x An endocrine gland cancer that has_material_basis_in neuroendocrine cells. ICD10CM:D3A.8 ICD9CM:209-209.99 ICDO:8240/3 MESH:D018358 NCI:C3809 SNOMEDCT_US_2023_03_01:55937004 UMLS_CUI:C0206754 neuroendocrine neoplasm disease_ontology DOID:169 neuroendocrine tumor DOID:169 An endocrine gland cancer that has_material_basis_in neuroendocrine cells. url:http://en.wikipedia.org/wiki/Neuroendocrine_cell url:http://en.wikipedia.org/wiki/Neuroendocrine_tumor url:http://www.cancer.gov/dictionary?CdrID=44904 (Congenital ichthyosiform erythroderma) or (alligator skin) or (ichthyosis congenita NOS) Congenital ichthyosis of skin (disorder) Congenital ichthyosis, unspecified (disorder) Ichthyosis congenita Ichthyosis congenita NOS (disorder) ichthyosis congenita disease_ontology DOID:1695 obsolete congenital ichthyosis true DOID:1695 A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. MESH:D007057 ORDO:79354 ichthyoses non-syndromic ichthyosis disease_ontology DOID:1697 ichthyosis DOID:1697 A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. url:http://www.dermnetnz.org/topics/ichthyosis/ url:https://en.wikipedia.org/wiki/Ichthyosis url:https://www.ncbi.nlm.nih.gov/books/NBK1420/ DOID:1696 disease_ontology DOID:1699 obsolete congenital ichthyosiform erythroderma true DOID:1699 A disease of anatomical entity that occurs in the muscular and/or skeletal system. MESH:D009140 NCI:C107377 SNOMEDCT_US_2023_03_01:268047003 UMLS_CUI:C0026857 disease_ontology DOID:17 musculoskeletal system disease DOID:17 A disease of anatomical entity that occurs in the muscular and/or skeletal system. url:http://en.wikipedia.org/wiki/Human_musculoskeletal_system#Diseases_and_disorders An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system. DOID:10009 ICD10CM:C75.9 ICD9CM:194.9 MESH:D004701 NCI:C3010 NCI:C3575 SNOMEDCT_US_2023_03_01:127015005 SNOMEDCT_US_2023_03_01:93780007 UMLS_CUI:C0014132 UMLS_CUI:C0153658 Endocrine tumor endocrine neoplasm malignant Endocrine tumor malignant neoplasm of endocrine gland malignant tumour of endocrine gland neoplasm of endocrine gland neoplasm of endocrine system disease_ontology DOID:170 endocrine gland cancer DOID:170 An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system. url:http://en.wikipedia.org/wiki/Endocrine_system An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22. GARD:7904 ICD10CM:Q80.1 MESH:D016114 MIM:308100 NCI:C84779 SNOMEDCT_US_2023_03_01:72523005 UMLS_CUI:C0079588 X-linked ichthyosis with steryl-sulphatase deficiency X-linked placental steryl-sulphatase deficiency X-linked recessive ichthyosis disease_ontology DOID:1700 OMIM mapping confirmed by DO. [LS]. X-linked ichthyosis DOID:1700 An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22. url:https://rarediseases.info.nih.gov/diseases/7904/disease url:https://www.omim.org/entry/308100 A lipid metabolism disorder that involves defects in steroid metabolism. MESH:D043202 UMLS_CUI:C1257809 disease_ontology DOID:1701 steroid inherited metabolic disorder DOID:1701 A lipid metabolism disorder that involves defects in steroid metabolism. url:http://en.wikipedia.org/wiki/Inborn_error_of_steroid_metabolism url:http://www.genome.jp/dbget-bin/www_bget?pathway+hsa00140 An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface. GARD:6752 ICD10CM:Q80.0 MESH:D016112 MIM:146700 NCI:C84778 SNOMEDCT_US_2023_03_01:205551004 UMLS_CUI:C0079584 Dominant congenital ichthyosiform erythroderma disease_ontology DOID:1702 OMIM mapping confirmed by DO. [SN]. ichthyosis vulgaris DOID:1702 An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface. url:https://www.mayoclinic.org/diseases-conditions/ichthyosis-vulgaris/symptoms-causes/syc-20373754 GARD:7578 ICD10CM:C91.1 NCI:C35424 SNOMEDCT_US_2023_03_01:277550009 UMLS_CUI:C0349631 Richter syndrome disease_ontology DOID:1703 Richter's syndrome DOID:1703 DOID:0050027 DOID:0050031 DOID:0050033 DOID:10243 flea-borne rickettsiosis mite-borne rickettsiosis rickettsiosis tick-borne rickettsiosis disease_ontology rickettsia infection DOID:1709 obsolete rickettsiosis true DOID:1709 MESH:D017599 SNOMEDCT_US_2023_03_01:73676002 UMLS_CUI:C0206093 primitive Neuroectodermal neoplasm disease_ontology DOID:171 neuroectodermal tumor DOID:171 An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening. DOID:12034 DOID:1711 GARD:5830 ICD10CM:I06.0 ICD10CM:Q23.0 ICD9CM:395.0 ICD9CM:746.3 MESH:D001024 NCI:C50462 SNOMEDCT_US_2023_03_01:155282009 SNOMEDCT_US_2023_03_01:18546004 SNOMEDCT_US_2023_03_01:60573004 UMLS_CUI:C0003507 UMLS_CUI:C0152417 UMLS_CUI:C0155567 Aortic stenosis Rheumatic aortic stenosis rheumatic aortic valve stenosis disease_ontology DOID:1712 Xref MGI. OMIM mapping confirmed by DO. [SN]. aortic valve stenosis MESH:D001024 DOID:1712 An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening. url:http://en.wikipedia.org/wiki/Aortic_valve_stenosis url:https://rarediseases.info.nih.gov/diseases/5830/aortic-valve-stenosis ICD10CM:G25.83 ICD9CM:333.93 SNOMEDCT_US_2023_03_01:446995005 UMLS_CUI:C0375200 disease_ontology DOID:1713 benign shuddering attacks DOID:1713 ICDO:8084/0 MESH:D049309 NCI:C97041 SNOMEDCT_US_2023_03_01:65540008 UMLS_CUI:C0333992 Pale (Clear cell) acanthoma disease_ontology DOID:172 clear cell acanthoma DOID:172 DOID:10297 DOID:11480 DOID:12880 DOID:13836 DOID:1723 DOID:9780 DOID:9781 DOID:9782 DOID:9783 ICD10CM:K26 ICD9CM:532 MESH:D004381 NCI:C26755 SNOMEDCT_US_2023_03_01:155691003 SNOMEDCT_US_2023_03_01:39755000 UMLS_CUI:C0010474 UMLS_CUI:C0013295 Curling Ulcer Curling's ulcers Stress Ulcer disease_ontology DOID:1724 Adding UMLS CUI for Curling Ulcer C0013295. duodenal ulcer DOID:1724 An organ system cancer that is located in the peritoneum. ICD10CM:C48.1 ICD9CM:158.8 SNOMEDCT_US_2023_03_01:187808008 UMLS_CUI:C0153466 disease_ontology cancer of peritoneum peritoneal neoplasm DOID:1725 peritoneum cancer DOID:1725 An organ system cancer that is located in the peritoneum. url:http://en.wikipedia.org/wiki/Peritoneal_cancer ICD10CM:H34.82 NCI:C35341 SNOMEDCT_US_2023_03_01:65593009 UMLS_CUI:C0271080 Partial Retinal Vein Occlusion Partial occlusion of retinal vein disease_ontology DOID:1726 partial of retinal vein occlusion DOID:1726 MESH:D012170 NCI:C34981 SNOMEDCT_US_2023_03_01:46085004 UMLS_CUI:C0035328 Occlusion, of retinal vein disease_ontology DOID:1727 retinal vein occlusion DOID:1727 ICD10CM:H34 ICD9CM:362.3 NCI:C34980 SNOMEDCT_US_2023_03_01:267717005 UMLS_CUI:C0035326 Retinal vasc. occlusion disease_ontology DOID:1729 retinal vascular occlusion DOID:1729 NCI:C6796 UMLS_CUI:C1333371 Eccrine tumor eccrine skin neoplasm disease_ontology DOID:173 eccrine sweat gland neoplasm DOID:173 A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. Histoplasmosis with pneumonia (disorder) Pneumonia with histoplasmosis (disorder) disease_ontology DOID:1730 obsolete histoplasmosis pneumonia true DOID:1730 A pneumonia that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum or Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. url:http://www.doctorfungus.org/Mycoses/human/histo/histoplamosis_d.htm url:http://www.jstor.org/stable/pdfplus/4547765.pdf url:http://www.springerlink.com/content/dl7677h135470438/fulltext.pdf A primary systemic mycosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. DOID:351 ICD10CM:B39 ICD9CM:115 MESH:C538362 MESH:D006660 NCI:C34977 NCI:C77201 SNOMEDCT_US_2023_03_01:266218008 UMLS_CUI:C0019655 UMLS_CUI:C0035288 disease_ontology DOID:1731 histoplasmosis DOID:1731 A primary systemic mycosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. url:http://www.cdc.gov/niosh/hi97146.html A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection. DOID:1732 GARD:6219 ICD10CM:A07.2 ICD9CM:007.4 MESH:D003457 NCI:C128408 SNOMEDCT_US_2023_03_01:186126003 UMLS_CUI:C0010418 Cryptosporidial gastroenteritis Infection by Cryptosporidium intestinal cryptosporidiosis disease_ontology DOID:1733 cryptosporidiosis DOID:1733 A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection. url:http://www.dpd.cdc.gov/DPDx/HTML/Cryptosporidiosis.htm A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting. DOID:1497 disease_ontology DOID:1734 obsolete viral gastroenteritis true DOID:1734 A gastroenteritis that involves inflammation of the stomach and intestines caused by viruses. The symptoms include abdominal cramps and pain, fever, watery diarrhea, loss of appetite, nausea, and vomiting. url:http://www.merck.com/mmhe/sec09/ch122/ch122a.html#MMHE_122_T1 MESH:D004379 NCI:C2995 SNOMEDCT_US_2023_03_01:126833009 UMLS_CUI:C0013291 neoplasm of duodenum neoplasm of the duodenum disease_ontology DOID:1737 duodenal benign neoplasm DOID:1737 A small intestine benign neoplasm that is located_in the small intestine. NCI:C7725 SNOMEDCT_US_2023_03_01:424279009 UMLS_CUI:C0238197 leiomyoma, small Bowel disease_ontology DOID:1738 small intestine leiomyoma DOID:1738 A small intestine benign neoplasm that is located_in the small intestine. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1869141/ GARD:8604 MESH:D049309 NCI:C7419 UMLS_CUI:C0846967 disease_ontology DOID:174 acanthoma MESH:D049309 DOID:174 disease_ontology DOID:1741 obsolete drug-induced psychotic disease with delusion true DOID:1741 ICD9CM:292.1 MESH:D011605 SNOMEDCT_US_2023_03_01:191498001 UMLS_CUI:C0033937 Drug-induced psychosis Drug-induced psychotic disorder disease_ontology DOID:1742 drug psychosis DOID:1742 Lymphatic vessel tumor (morphologic abnormality) Lymphatic vessel tumor (qualifier value) Lymphatic vessel tumor NOS (morphologic abnormality) neoplasm of the Lymphatic Vessel disease_ontology DOID:1744 obsolete malignant lymphatic vessel tumor true DOID:1744 A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane. NCI:C4549 SNOMEDCT_US_2023_03_01:255003007 UMLS_CUI:C0346359 Conjunctival Epidermoid carcinoma invasive squamous cell carcinoma of the conjunctiva ocular surface squamous neoplasia squamous cell carcinoma of conjunctiva disease_ontology DOID:1748 conjunctival squamous cell carcinoma DOID:1748 A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane. url:https://www.ncbi.nlm.nih.gov/pubmed/19883851 url:https://www.ncbi.nlm.nih.gov/pubmed/27584160 A carcinoma that derives_from squamous epithelial cells. DOID:5512 EFO:0000707 GARD:1091 ICDO:8070/3 MESH:D002294 MESH:D018307 NCI:C2929 SNOMEDCT_US_2023_03_01:1255006006 SNOMEDCT_US_2023_03_01:154605007 UMLS_CUI:C0007137 UMLS_CUI:C0751688 epidermoid carcinoma malignant squamous cell tumor squamous carcinoma squamous cell Epithelioma squamous cell cancer disease_ontology DOID:1749 squamous cell carcinoma DOID:1749 A carcinoma that derives_from squamous epithelial cells. url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma A cardiovascular cancer that is located_in blood vessels. DOID:3339 DOID:5454 DOID:5548 DOID:7019 DOID:7020 DOID:7392 MESH:D019043 NCI:C5348 NCI:C5380 NCI:C5383 NCI:C5388 NCI:C7390 SNOMEDCT_US_2023_03_01:126737003 SNOMEDCT_US_2023_03_01:93817006 UMLS_CUI:C0282607 UMLS_CUI:C0346845 UMLS_CUI:C1290407 UMLS_CUI:C1334616 UMLS_CUI:C1334617 UMLS_CUI:C1334630 UMLS_CUI:C1335753 Blood vessel tumor Blood vessel tumors Blood vessel tumour disorder Haemangiomatous tumour blood vessel neoplasm leiomyosarcoma of the renal Vein malignant great vessel tumor malignant tumor of pulmonary Vein malignant tumor of pulmonary artery malignant vascular neoplasm malignant vascular tumor neoplasm of great vessel pulmonary artery malignant neoplasm pulmonary vein malignant neoplasm renal vein leiomyosarcoma vascular tissue neoplasm vascular tumors disease_ontology DOID:175 vascular cancer DOID:175 A cardiovascular cancer that is located_in blood vessels. url:http://en.wikipedia.org/wiki/Vascular NCI:C4550 SNOMEDCT_US_2023_03_01:255004001 UMLS_CUI:C0346360 Conjunctival melanoma malignant melanoma of conjunctiva disease_ontology DOID:1751 malignant conjunctival melanoma DOID:1751 An ocular cancer that has_material_basis_in melanocytes and is located_in the eye. GARD:7236 GARD:8621 eye melanoma intraocular melanoma melanoma of eye disease_ontology DOID:1752 ocular melanoma DOID:1752 An ocular cancer that has_material_basis_in melanocytes and is located_in the eye. url:http://www.cancer.gov/dictionary?CdrID=269467 A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. MESH:D008946 NCI:C50654 SNOMEDCT_US_2023_03_01:79619009 UMLS_CUI:C0026269 Mitral stenosis disease_ontology DOID:1754 mitral valve stenosis DOID:1754 A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. url:http://en.wikipedia.org/wiki/Mitral_valve_stenosis A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve. ICD10CM:G51 ICD9CM:351 MESH:D005155 NCI:C27594 SNOMEDCT_US_2023_03_01:90039006 UMLS_CUI:C0015464 disease_ontology DOID:1756 facial nerve disease DOID:1756 A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve. url:https://ent.uci.edu/more-at-uc-irvine/conditions/facial-nerve-disorders.asp MESH:D005150 MIM:141300 NCI:C84703 SNOMEDCT_US_2023_03_01:29868009 UMLS_CUI:C0015458 PARRY-ROMBERG SYNDROME disease_ontology DOID:1757 OMIM mapping confirmed by DO. [SN]. facial hemiatrophy DOID:1757 An American histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. disease_ontology DOID:1758 obsolete Histoplasma capsulatum pneumonia true DOID:1758 An American histoplasmosis that results_in inflammation located_in lung, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted_by airborne spores and has_symptom mediastinal lymphadenopathy, has_symptom cough and has_symptom chest pain. url:http://www.springerlink.com/content/dl7677h135470438/fulltext.pdf A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted by airborne spores and has symptom nonproductive cough, has symptom headache, has symptom loss of appetite and has symptom muscle pains. ICD10CM:B39.4 ICD9CM:115.0 MESH:D006660 SNOMEDCT_US_2023_03_01:187036002 UMLS_CUI:C0153261 disease_ontology DOID:1759 American histoplasmosis DOID:1759 A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted by airborne spores and has symptom nonproductive cough, has symptom headache, has symptom loss of appetite and has symptom muscle pains. url:http://www.ncbi.nlm.nih.gov/sites/entrez/16940867 An organ system cancer that located_in the heart and blood vessels. NCI:C4784 SNOMEDCT_US_2023_03_01:721573003 UMLS_CUI:C0497243 Cardiovascular tumors cardiovascular neoplasm disease_ontology DOID:176 cardiovascular cancer DOID:176 An organ system cancer that located_in the heart and blood vessels. url:http://www.cancer.gov/dictionary?CdrID=44005 url:https://www.ncbi.nlm.nih.gov/books/NBK537144/ NCI:C5827 SNOMEDCT_US_2023_03_01:126973004 UMLS_CUI:C1263899 neoplasm of facial nerve tumor of Facial nerve disease_ontology DOID:1760 facial nerve neoplasm DOID:1760 GARD:7010 ICD10CM:G51.2 MESH:D008556 MIM:155900 NCI:C84886 SNOMEDCT_US_2023_03_01:2511001 UMLS_CUI:C0025235 Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal Melkersson's syndrome disease_ontology DOID:1761 OMIM mapping confirmed by DO. [SN]. Melkersson-Rosenthal syndrome DOID:1761 A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa. ICD10CM:K13.0 MESH:D002613 NCI:C79545 SNOMEDCT_US_2023_03_01:155664000 UMLS_CUI:C0007971 disease_ontology DOID:1762 cheilitis MESH:D002613 DOID:1762 A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa. url:http://en.wikipedia.org/wiki/Cheilitis A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness. ICD9CM:300.16 SNOMEDCT_US_2023_03_01:430751001 UMLS_CUI:C0015481 Munchausen syndrome disease_ontology DOID:1766 factitious disorder DOID:1766 A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness. url:http://en.wikipedia.org/wiki/Factitious_disorder url:http://my.clevelandclinic.org/disorders/factitious_disorders/hic_an_overview_of_factitious_disorders.aspx A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause. GARD:6191 ICD10CM:F44 ICD9CM:300.11 MESH:D003291 SNOMEDCT_US_2023_03_01:20734000 UMLS_CUI:C0009946 Conversion Hysterical Neurosis Conversion hysteria or reaction Hysterical neurosis, conversion type disease_ontology DOID:1768 conversion disorder DOID:1768 A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause. url:http://en.wikipedia.org/wiki/Conversion_disorder ICD10CM:K59.31 MESH:D008532 SNOMEDCT_US_2023_03_01:28536002 UMLS_CUI:C0025162 disease_ontology DOID:1770 toxic megacolon DOID:1770 ICD9CM:386.55 SNOMEDCT_US_2023_03_01:43000004 UMLS_CUI:C0155519 Loss of labyrinthine reactivity, unilateral Unilateral loss of labyrinthine reactivity disease_ontology DOID:1776 labyrinthine unilateral reactive loss DOID:1776 ICD9CM:386.51 SNOMEDCT_US_2023_03_01:194372007 UMLS_CUI:C0155515 hyperactive labyrinth, unilateral hyperactive unilateral labyrinthine dysfunction disease_ontology DOID:1777 unilateral hyperactive labyrinth DOID:1777 A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart. DOID:0000405 DOID:2403 DOID:2869 DOID:324 DOID:325 DOID:45 ICD10CM:I72.9 ICD9CM:442.9 MESH:D000783 MESH:D014652 MESH:D020758 MESH:D020760 NCI:C26693 NCI:C35117 SNOMEDCT_US_2023_03_01:27550009 SNOMEDCT_US_2023_03_01:371029002 SNOMEDCT_US_2023_03_01:432119003 UMLS_CUI:C0002940 UMLS_CUI:C0042373 UMLS_CUI:C0752127 UMLS_CUI:C0752130 vascular tissue disease disease_ontology DOID:178 vascular disease DOID:178 A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart. url:http://en.wikipedia.org/wiki/Vascular_disease An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage. DOID:10008 ICD10CM:C73 ICD9CM:193 KEGG:05216 MESH:D013964 NCI:C3414 NCI:C7510 SNOMEDCT_US_2023_03_01:127018007 SNOMEDCT_US_2023_03_01:94098005 UMLS_CUI:C0007115 UMLS_CUI:C0040136 Thyroid gland neoplasm malignant neoplasm of thyroid gland malignant tumour of thyroid gland neoplasm of thyroid gland thyroid gland cancer thyroid neoplasm disease_ontology DOID:1781 thyroid cancer DOID:1781 An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage. url:http://en.wikipedia.org/wiki/Thyroid_gland url:https://pubmed.ncbi.nlm.nih.gov/35288841/ An endocrine gland cancer located_in the pituitary gland located at the base of the brain. DOID:5671 GARD:9371 ICD10CM:C75.1 MESH:D010911 NCI:C3330 NCI:C4769 SNOMEDCT_US_2023_03_01:127024001 SNOMEDCT_US_2023_03_01:93964007 UMLS_CUI:C0032019 UMLS_CUI:C0496842 Pituitary gland neoplasm malignant Pituitary neoplasm malignant tumor of pituitary gland neoplasm of pituitary gland pituitary gland cancer pituitary neoplasm disease_ontology DOID:1785 pituitary cancer DOID:1785 An endocrine gland cancer located_in the pituitary gland located at the base of the brain. url:http://en.wikipedia.org/wiki/Pituitary_gland ICDO:8671/0 MESH:D000314 NCI:C2860 SNOMEDCT_US_2023_03_01:54292009 UMLS_CUI:C0001630 Adrenal Rest neoplasm disease_ontology DOID:1786 adrenal rest tumor MESH:D000314 DOID:1786 A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. MESH:D010493 NCI:C34915 SNOMEDCT_US_2023_03_01:3238004 UMLS_CUI:C0031046 disease_ontology DOID:1787 pericarditis DOID:1787 A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. url:http://en.wikipedia.org/wiki/Pericarditis A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum. DOID:0050874 DOID:7954 ICD10CM:C45.1 NCI:C8704 NCI:C9350 SNOMEDCT_US_2023_03_01:187806007 UMLS_CUI:C0346109 UMLS_CUI:C0854886 Advanced malignant Mesothelioma of Peritoneum advanced malignant peritoneal mesothelioma malignant mesothelioma of peritoneum disease_ontology DOID:1788 peritoneal mesothelioma DOID:1788 A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum. url:http://en.wikipedia.org/wiki/Mesothelioma NCI:C7633 UMLS_CUI:C1377610 Mesothelioma of Peritoneum disease_ontology DOID:1789 benign peritoneal mesothelioma DOID:1789 A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. DOID:4487 DOID:6965 DOID:7434 MESH:D000086002 MIM:156240 NCI:C27926 NCI:C4456 NCI:C7865 NCI:C8420 SNOMEDCT_US_2023_03_01:109378008 UMLS_CUI:C0278752 UMLS_CUI:C0345967 UMLS_CUI:C0392400 UMLS_CUI:C1332338 Diffuse malignant Mesothelioma advanced malignant mesothelioma asbestos-related malignant mesothelioma malignant tumor of Mesothelium disease_ontology DOID:1790 OMIM mapping confirmed by DO. [SN]. malignant mesothelioma DOID:1790 A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. url:http://cancergenome.nih.gov/cancersselected/Mesothelioma url:http://www.cancer.gov/dictionary?CdrID=44323 url:http://www.merriam-webster.com/medlineplus/mesothelioma url:https://en.wikipedia.org/wiki/Mesothelioma A peritoneum cancer that is located_in the inside of the abdomen. NCI:C40022 UMLS_CUI:C1514428 primary peritoneal carcinoma disease_ontology DOID:1791 peritoneal carcinoma DOID:1791 A peritoneum cancer that is located_in the inside of the abdomen. url:https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/peritoneal-cancer.html NCI:C5714 UMLS_CUI:C1335307 Lymphoma of pancreas disease_ontology DOID:1792 pancreas lymphoma DOID:1792 An endocrine gland cancer located_in the pancreas. DOID:14356 DOID:1797 DOID:3588 DOID:9859 GARD:9364 ICD10CM:C25.0 ICD10CM:C25.1 ICD10CM:C25.2 ICD9CM:157.0 ICD9CM:157.1 ICD9CM:157.2 ICD9CM:157.8 KEGG:05212 MESH:D010190 NCI:C3305 ORDO:1333 ORDO:217074 SNOMEDCT_US_2023_03_01:126859007 SNOMEDCT_US_2023_03_01:187796007 SNOMEDCT_US_2023_03_01:93715005 SNOMEDCT_US_2023_03_01:93823001 SNOMEDCT_US_2023_03_01:94082003 UMLS_CUI:C0030297 UMLS_CUI:C0153458 UMLS_CUI:C0153459 UMLS_CUI:C0153460 UMLS_CUI:C0153463 Ca body of pancreas Ca head of pancreas Ca tail of pancreas malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of tail of pancreas pancreas neoplasm pancreatic neoplasm pancreatic tumor disease_ontology DOID:1793 Xref MGI. pancreatic cancer DOID:1793 An endocrine gland cancer located_in the pancreas. url:http://en.wikipedia.org/wiki/Pancreatic A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue. DOID:1794 NCI:C7430 SNOMEDCT_US_2023_03_01:255088001 UMLS_CUI:C0346648 malignant neoplasm of the Exocrine pancreas malignant tumor of exocrine pancreas malignant tumour of exocrine pancreas disease_ontology DOID:1795 malignant exocrine pancreas neoplasm DOID:1795 A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7430 A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin. NCI:C5715 UMLS_CUI:C1096346 sarcoma of pancreas disease_ontology DOID:1796 pancreas sarcoma DOID:1796 A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin. url:https://brief.land/rro/articles/5126.html An islet cell tumor that has_material_basis_in epithelial cells. GARD:13034 ICD10CM:C25.4 ICD9CM:157.4 MESH:D018273 NCI:C3770 SNOMEDCT_US_2023_03_01:254612002 UMLS_CUI:C1328479 Islet cell carcinoma carcinoma of endocrine pancreas malignant neoplasm of islets of Langerhans pancreatic neuroendocrine carcinoma disease_ontology DOID:1798 pancreatic endocrine carcinoma DOID:1798 An islet cell tumor that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A pancreatic cancer that is located_in the pancreatic islet cells. DOID:10165 ICD10CM:C25.4 ICD10CM:D13.7 MESH:D007516 SNOMEDCT_US_2023_03_01:254611009 SNOMEDCT_US_2023_03_01:261713004 UMLS_CUI:C0242363 UMLS_CUI:C0496784 Islet cell neoplasm endocrine pancreas cancer islet cell tumour malignant pancreatic Endocrine tumor malignant pancreatic Endocrine tumour malignant tumor of endocrine pancreas malignant tumour of endocrine pancreas pancreatic Endocrine neoplasm disease_ontology DOID:1799 islet cell tumor DOID:1799 A pancreatic cancer that is located_in the pancreatic islet cells. url:http://en.wikipedia.org/wiki/Islets_of_Langerhans url:http://en.wikipedia.org/wiki/Neuroendocrine_tumor A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. DOID:579 NCI:C27599 UMLS_CUI:C1335051 Non-neoplastic urinary tract disease urinary tract disease disease_ontology DOID:18 urinary system disease DOID:18 A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. url:http://en.wikipedia.org/wiki/Urinary_system A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma. ICDO:9262/0 MESH:D018214 NCI:C8422 SNOMEDCT_US_2023_03_01:189896007 UMLS_CUI:C0206640 Fibro-osteoma disease_ontology peripheral ossifying fibroma DOID:180 ossifying fibroma DOID:180 A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma. url:http://en.wikipedia.org/wiki/Ossifying_fibroma A carcinoma that derives_from neuroendocrine cells. ICDO:8246/3 MESH:D018278 NCI:C3773 SNOMEDCT_US_2023_03_01:55937004 UMLS_CUI:C0206695 disease_ontology DOID:1800 neuroendocrine carcinoma DOID:1800 A carcinoma that derives_from neuroendocrine cells. url:https://www.mayoclinic.org/diseases-conditions/neuroendocrine-tumors/symptoms-causes/syc-20354132 metastatic tumor to the pancreas secondary malignant neoplasm of pancreas (disorder) disease_ontology DOID:1801 obsolete secondary malignant neoplasm to the pancreas true DOID:1801 ICD9CM:355.9 MESH:D020422 SNOMEDCT_US_2023_03_01:32595002 UMLS_CUI:C0235880 disease_ontology DOID:1802 mononeuritis DOID:1802 MESH:D009443 NCI:C116381 SNOMEDCT_US_2023_03_01:247378004 UMLS_CUI:C0027813 peripheral neuritis disease_ontology DOID:1803 neuritis DOID:1803 A coxsackie carditis that results_in inflammation located_in pericardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom acute chest pain, has_symptom disturbance of heart rate, and has_symptom dyspnea. disease_ontology DOID:1804 obsolete coxsackie pericarditis true DOID:1804 A coxsackie carditis that results_in inflammation located_in pericardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom acute chest pain, has_symptom disturbance of heart rate, and has_symptom dyspnea. url:http://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_ An Enterovirus infectious disease that results_in inflammation located_in heart, has_material_basis_in Human enterovirus B, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. Enterovirus heart infection (disorder) disease_ontology DOID:1805 obsolete coxsackie carditis true DOID:1805 An Enterovirus infectious disease that results_in inflammation located_in heart, has_material_basis_in Human enterovirus B, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. url:http://books.google.com/books?id=VbjFQiz8aR0C&pg=RA1-PA1614&lpg#v= url:http://ccdm.unboundmedicine.com/ccdm/ub/view/Communicable-Diseases/460229/all/coxsackievirus_carditis_ A coxsackie carditis that results_in inflammation located_in endocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. disease_ontology DOID:1806 obsolete coxsackie endocarditis true DOID:1806 A coxsackie carditis that results_in inflammation located_in endocardium, has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. url:http://books.google.com/books?id=c-dKGQ0uSioC&pg=PA200&lpg#v=onepage&q&f=false ICD10CM:G90.5 ICD9CM:337.2 MESH:D012019 MIM:604335 NCI:C85042 SNOMEDCT_US_2023_03_01:203492008 UMLS_CUI:C0034931 disease_ontology DOID:1811 OMIM mapping confirmed by DO. [SN]. reflex sympathetic dystrophy DOID:1811 A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. MESH:D002114 NCI:C3672 SNOMEDCT_US_2023_03_01:237881004 UMLS_CUI:C0006663 Pathologically calcified structure pathologic calcification disease_ontology DOID:182 calcinosis DOID:182 A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. url:http://en.wikipedia.org/wiki/Calcinosis ICD10CM:H04.15 ICD9CM:375.14 SNOMEDCT_US_2023_03_01:193979004 UMLS_CUI:C0339121 disease_ontology DOID:1822 secondary lacrimal atrophy DOID:1822 Epileptic absence status Epileptic twilight state Petit mal status (disorder) Petit mal status, epileptic disease_ontology DOID:1823 obsolete petit mal status true DOID:1823 GARD:10191 MESH:D013226 NCI:C85079 SNOMEDCT_US_2023_03_01:155039002 UMLS_CUI:C0038220 Grand mal status disease_ontology DOID:1824 status epilepticus DOID:1824 A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. MESH:D004832 NCI:C3023 SNOMEDCT_US_2023_03_01:163596002 UMLS_CUI:C0014553 petit mal seizure pyknolepsy disease_ontology absence seizure DOID:1825 childhood absence epilepsy DOID:1825 A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. url:http://en.wikipedia.org/wiki/Childhood_absence_epilepsy A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. EFO:0000474 ICD10CM:G40 ICD9CM:345.9 MESH:D004827 NCI:C3020 SNOMEDCT_US_2023_03_01:267698007 UMLS_CUI:C0014544 epilepsy syndrome epileptic syndrome disease_ontology DOID:1826 epilepsy ICD10CM:G40 ICD10CM:G40.9 ICD10CM:G40.909 DOID:1826 A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. url:http://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false url:http://www.merriam-webster.com/medlineplus/epilepsy url:https://www.ilae.org/guidelines/definition-and-classification/ilae-classification-of-the-epilepsies-2017 An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. MESH:D004829 MIM:600669 NCI:C3021 SNOMEDCT_US_2023_03_01:155043003 UMLS_CUI:C0014548 idiopathic generalized epilepsy disease_ontology DOID:1827 Xref MGI. generalized epilepsy DOID:1827 An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. url:http://en.wikipedia.org/wiki/Epilepsy url:http://en.wikipedia.org/wiki/Generalized_epilepsy ICD9CM:598.8 UMLS_CUI:C0029752 disease_ontology DOID:1829 urethral stricture MESH:D14525 DOID:1829 DOID:13012 DOID:1831 Mild hyperemesis gravidarum, antepartum Mild hyperemesis gravidarum, delivered disease_ontology DOID:1832 obsolete Mild hyperemesis gravidarum true DOID:1832 GARD:7056 ICD10CM:G58.7 ICD9CM:354.5 MESH:D020422 NCI:C70938 SNOMEDCT_US_2023_03_01:30292005 UMLS_CUI:C0151295 disease_ontology DOID:1835 mononeuritis multiplex DOID:1835 A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus. ICD9CM:250.1 MESH:D016883 MIM:612227 NCI:C50530 SNOMEDCT_US_2023_03_01:154671004 UMLS_CUI:C0011880 DIABETES MELLITUS, KETOSIS-PRONE ketosis-prone diabetes mellitus disease_ontology DOID:1837 OMIM mapping confirmed by DO. [SN]. diabetic ketoacidosis DOID:1837 A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus. url:https://medlineplus.gov/ency/article/000320.htm url:https://www.mayoclinic.org/diseases-conditions/diabetic-ketoacidosis/symptoms-causes/syc-20371551 GARD:1521 MESH:D007706 MIM:309400 NCI:C75486 SNOMEDCT_US_2023_03_01:59178007 UMLS_CUI:C0022716 COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome disease_ontology DOID:1838 OMIM mapping confirmed by DO. [SN]. Menkes disease DOID:1838 A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. DOID:3348 MESH:D001859 NCI:C9343 SNOMEDCT_US_2023_03_01:126537000 UMLS_CUI:C0005967 CA - bone cancer bone neoplasm bone tumour malignant bone neoplasm malignant bone tumour malignant neoplasm of bone malignant osseous tumor neoplasm of bone osseous tumor disease_ontology DOID:184 bone cancer DOID:184 A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/bone url:http://www.cancer.gov/cancertopics/types/bone ICD9CM:354.9 SNOMEDCT_US_2023_03_01:58850003 UMLS_CUI:C0154746 Mononeuritis upper limb disease_ontology DOID:1844 mononeuritis of upper limb DOID:1844 A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida. disease_ontology DOID:1845 obsolete Strongylida infectious disease true DOID:1845 A Rhabditida infectious disease that involves parasitic infection of gastrointestinal tracts of ruminants, horses, cats, dogs, swine and humans by nematodes belonging to the suborder Strongylida. url:http://en.wikipedia.org/wiki/Strongylida A drug dependence that involves the continued use of cannabis despite problems related to use of the substance. ICD10CM:F12.2 ICD9CM:304.3 MESH:D002189 NCI:C34445 SNOMEDCT_US_2023_03_01:268766005 UMLS_CUI:C0006870 disease_ontology DOID:1849 cannabis dependence DOID:1849 A drug dependence that involves the continued use of cannabis despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Cannabis_dependence A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver. GARD:10214 MESH:D002780 NCI:C84400 ORDO:284385 SNOMEDCT_US_2023_03_01:4637005 UMLS_CUI:C0008372 neonatal intrahepatic cholestasis disease_ontology DOID:1852 Xref MGI. intrahepatic cholestasis DOID:1852 A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver. url:https://medlineplus.gov/ency/article/000215.htm A bone disease characterized by replacement of bone in the jaws with fibrous tissue leading to facial swelling that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3. GARD:6036 ICD10CM:M27.8 MESH:D002636 MIM:118400 NCI:C84630 SNOMEDCT_US_2023_03_01:76098004 UMLS_CUI:C0008029 disease_ontology DOID:1856 OMIM mapping confirmed by DO. [SN]. cherubism DOID:1856 A bone disease characterized by replacement of bone in the jaws with fibrous tissue leading to facial swelling that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3. url:https://www.ncbi.nlm.nih.gov/pubmed/10364528 url:https://www.ncbi.nlm.nih.gov/pubmed/11381256 A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis. DOID:11345 GARD:6995 ICD10CM:Q78.1 ICD9CM:756.54 MESH:D005359 MIM:174800 NCI:C34610 SNOMEDCT_US_2023_03_01:205508003 UMLS_CUI:C0016065 fibrous dysplasia of bone osteitis fibrosa disseminata polyostotic fibrous dysplasia disease_ontology DOID:1858 OMIM mapping confirmed by DO. [SN]. McCune Albright syndrome MESH:D005359 DOID:1858 A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis. url:http://en.wikipedia.org/wiki/McCune%E2%80%93Albright_syndrome url:http://ghr.nlm.nih.gov/condition/mccune-albright-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK537092/ A bone cancer and jaw disease that is located in the jaw and results in a swollen jaw, results in numbness or a tingling sensation in jaw, and results in an abnormal growth of the jaw bone. MESH:D007573 SNOMEDCT_US_2023_03_01:126634001 UMLS_CUI:C0022364 neoplasm of jaw disease_ontology jaw neoplasm DOID:1862 jaw cancer DOID:1862 A bone cancer and jaw disease that is located in the jaw and results in a swollen jaw, results in numbness or a tingling sensation in jaw, and results in an abnormal growth of the jaw bone. url:https://www.mayoclinic.org/diseases-conditions/jaw-tumors-cysts/symptoms-causes/syc-20350973 MESH:D012888 NCI:C3375 SNOMEDCT_US_2023_03_01:126538005 UMLS_CUI:C0037305 disease_ontology DOID:1863 skull cancer DOID:1863 ICD10CM:M27.1 ICD9CM:526.3 MESH:D006101 NCI:C173930 SNOMEDCT_US_2023_03_01:15350006 UMLS_CUI:C0162375 central giant cell (reparative) granuloma central giant cell granuloma central giant cell reparative granuloma of jaw disease_ontology DOID:1866 giant cell reparative granuloma DOID:1866 ICD10CM:I09.2 ICD9CM:393 SNOMEDCT_US_2023_03_01:194719006 UMLS_CUI:C0155561 disease_ontology DOID:1869 chronic rheumatic pericarditis DOID:1869 disease_ontology DOID:1873 obsolete abortion complicated by metabolic disorder true DOID:1873 A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity. EFO:0004234 NCI:C3133 Sexual impotence erectile dysfunction disease_ontology DOID:1875 impotence DOID:1875 A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity. url:https://www.mayoclinic.org/diseases-conditions/erectile-dysfunction/symptoms-causes/syc-20355776 A male reproductive system disease that is characterized by disturbances in sexual desire or performance. ICD10CM:F52.9 NCI:C3347 SNOMEDCT_US_2023_03_01:39894007 UMLS_CUI:C0549622 disease_ontology DOID:1876 sexual dysfunction DOID:1876 A male reproductive system disease that is characterized by disturbances in sexual desire or performance. url:https://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction A heart septal defect located_in in the septum that separates the two atria of the heart. ICD10CM:Q21.1 MESH:D006344 MIM:PS108800 NCI:C84473 ORDO:1478 SNOMEDCT_US_2023_03_01:156915002 UMLS_CUI:C0018817 atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect disease_ontology DOID:1882 Xref MGI. atrial heart septal defect DOID:1882 A heart septal defect located_in in the septum that separates the two atria of the heart. url:https://en.wikipedia.org/wiki/Atrial_septal_defect A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepacivirus hominis, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. DOID:12430 DOID:12432 DOID:2049 EFO:0003047 ICD10CM:B19.20 ICD9CM:070.7 MESH:D006526 NCI:C3098 SNOMEDCT_US_2023_03_01:154349000 UMLS_CUI:C0019196 NANBH Viral hepatitis C chronic hepatitis C hepatitis C infection hepatitis nonA nonB disease_ontology DOID:1883 hepatitis C DOID:1883 A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepacivirus hominis, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. url:http://www.cdc.gov/hepatitis/HCV/index.htm url:http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf url:http://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf url:https://www.cdc.gov/hepatitis-c/about/index.html NANBH A hepatitis that involves viral infection causing inflammation of the liver. DOID:12548 DOID:1331 DOID:1885 MESH:D006524 UMLS_CUI:C0019194 Viral hepatitis with hepatic coma animal viral hepatitis human viral hepatitis disease_ontology DOID:1884 viral hepatitis DOID:1884 A hepatitis that involves viral infection causing inflammation of the liver. url:http://www.cdc.gov/HEPATITIS/ A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors. disease_ontology DOID:1886 obsolete Flaviviridae infectious disease true DOID:1886 A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Flaviviridae viruses, which are transmitted_by arthropod vectors. url:http://en.wikipedia.org/wiki/Flaviviridae A cranial nerve disease that is located_in the optic nerve. MESH:D009901 NCI:C79698 SNOMEDCT_US_2023_03_01:77157004 UMLS_CUI:C0029132 disorder of the second nerve optic nerve disorder optic neuropathy disease_ontology DOID:1891 optic nerve disease DOID:1891 A cranial nerve disease that is located_in the optic nerve. url:http://www.academy.org.uk/lectures/barnard3.htm url:http://www.nature.com/eye/journal/v18/n11/full/6701575a.html ICD10CM:H01.13 ICD9CM:373.31 SNOMEDCT_US_2023_03_01:36259009 UMLS_CUI:C0155177 disease_ontology DOID:1893 eczematous dermatitis of eyelid DOID:1893 ICD10CM:H01.1 ICD9CM:373.3 SNOMEDCT_US_2023_03_01:111524003 UMLS_CUI:C0155176 Non-infected eyelid dermatoses disease_ontology DOID:1894 noninfectious dermatoses of eyelid DOID:1894 A noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and has_material_basis_in a type IV hypersenstivity reaction to an allergen or irritant. ICD9CM:373.32 SNOMEDCT_US_2023_03_01:402249007 UMLS_CUI:C0155178 Contact and allergic dermatitis of eyelid disease_ontology DOID:1895 allergic contact dermatitis of eyelid DOID:1895 A noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and has_material_basis_in a type IV hypersenstivity reaction to an allergen or irritant. url:https://en.wikipedia.org/wiki/Allergic_contact_dermatitis MESH:D012811 SNOMEDCT_US_2023_03_01:254581007 UMLS_CUI:C0037073 neoplasm of sigmoid colon tumor of sigmoid colon disease_ontology DOID:1896 sigmoid neoplasm DOID:1896 MESH:D012810 UMLS_CUI:C0037072 disease_ontology DOID:1897 sigmoid disease DOID:1897 A vaginal cancer that has_material_basis_in connective tissue. NCI:C7737 UMLS_CUI:C0238519 sarcoma of the vagina disease_ontology DOID:1901 vagina sarcoma DOID:1901 A vaginal cancer that has_material_basis_in connective tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/21816677 NCI:C5576 SNOMEDCT_US_2023_03_01:404014008 UMLS_CUI:C1275254 malignant fibrous histiocytoma of skin vaginal melanoma disease_ontology DOID:1906 malignant skin fibrous histiocytoma DOID:1906 ICDO:8830/3 MESH:D051677 NCI:C4247 SNOMEDCT_US_2023_03_01:34360000 UMLS_CUI:C0334463 Fibroxanthosarcoma MFH disease_ontology DOID:1907 malignant fibrous histiocytoma DOID:1907 MFH disease_ontology DOID:1908 obsolete cutaneous fibrohistiocytic neoplasm true DOID:1908 A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye. EFO:0000756 ICDO:8720/3 KEGG:05218 MESH:D008545 NCI:C3224 SNOMEDCT_US_2023_03_01:2092003 UMLS_CUI:C0025202 Naevocarcinoma malignant melanoma disease_ontology DOID:1909 melanoma MESH:D008545 DOID:1909 A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye. url:http://en.wikipedia.org/wiki/Melanoma url:https://www.ncbi.nlm.nih.gov/pubmed/22123420 A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac. NCI:C6379 UMLS_CUI:C1336945 vaginal Yolk Sac neoplasm vaginal endodermal sinus neoplasm disease_ontology DOID:1910 vaginal yolk sac tumor DOID:1910 A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac. url:https://www.ncbi.nlm.nih.gov/pubmed/30814243 A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo. ICDO:9071/3 MESH:D018240 NCI:C3011 SNOMEDCT_US_2023_03_01:74409009 UMLS_CUI:C0014145 Hepatoid yolk sac tumour Yolk Sac neoplasm Yolk sac tumour endodermal sinus tumour infantile embryonal carcinoma yolk sac tumor disease_ontology DOID:1911 endodermal sinus tumor DOID:1911 A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo. url:http://en.wikipedia.org/wiki/Endodermal_sinus_tumor url:http://en.wikipedia.org/wiki/Germ_cell_tumor url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=876 url:https://www.cincinnatichildrens.org/health/y/yolk-sac/ secondary malignant neoplasm of vagina (disorder) secondary tumor to the vagina disease_ontology DOID:1912 obsolete metastasis to vagina true DOID:1912 Alternating exotropia with A pattern (disorder) disease_ontology DOID:1913 obsolete alternating exotropia with A pattern true DOID:1913 A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26. ICD10CM:E79.1 MESH:D007926 MIM:300322 NCI:C61255 SNOMEDCT_US_2023_03_01:190918000 UMLS_CUI:C0023374 Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency HPRT1 deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency disease_ontology DOID:1919 OMIM mapping confirmed by DO. [SN]. Lesch-Nyhan syndrome DOID:1919 A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26. url:https://pubmed.ncbi.nlm.nih.gov/31182398/ A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. DOID:12293 ICDO:8590/1 MESH:D018312 NCI:C3794 SNOMEDCT_US_2023_03_01:253028001 UMLS_CUI:C0206724 Sex Cord-Stromal neoplasm Sex cord stromal tumour Specialized gonadal neoplasm Specialized gonadal tumor Specialized gonadal tumour sex cord-gonadal stromal tumour disease_ontology DOID:192 sex cord-gonadal stromal tumor DOID:192 A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. url:http://en.wikipedia.org/wiki/Sex_cord-gonadal_stromal_tumour An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. MESH:D033461 NCI:C3961 SNOMEDCT_US_2023_03_01:271198001 UMLS_CUI:C0740394 Blood urate raized uricacidemia disease_ontology DOID:1920 hyperuricemia DOID:1920 An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. url:http://en.wikipedia.org/wiki/Hyperuricemia A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men. GARD:8705 ICD10CM:Q98.0 ICD9CM:758.7 MESH:D007713 NCI:C34752 SNOMEDCT_US_2023_03_01:405770005 UMLS_CUI:C0022735 47, XXY Hypogonadotropic Hypogonadism Klinefelter's syndrome XXY syndrome XXY trisomy disease_ontology DOID:1921 No OMIM mapping, confirmed by DO. [LS]. Klinefelter syndrome DOID:1921 A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men. url:https://ghr.nlm.nih.gov/condition/klinefelter-syndrome url:https://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome disease_ontology DOID:1922 obsolete endocrine syndrome true DOID:1922 A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex. MESH:D012734 UMLS_CUI:C0036875 sex development disorder sex differentiation disease disease_ontology DOID:1923 disorder of sexual development DOID:1923 A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976999/ A gonadal disease that is characterized by diminished functional activity of the gonads. MESH:D007006 MIM:241100 NCI:C9227 SNOMEDCT_US_2023_03_01:48130008 UMLS_CUI:C0020619 disease_ontology DOID:1924 hypogonadism DOID:1924 A gonadal disease that is characterized by diminished functional activity of the gonads. url:https://en.wikipedia.org/wiki/Hypogonadism An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. GARD:6124 MESH:C536436 MIM:PS135900 NCI:C35321 ORDO:1465 SNOMEDCT_US_2023_03_01:10007009 UMLS_CUI:C0265338 Dwarfism-Onychodysplasia Fifth Digit Syndrome Short Stature-Onychodysplasia. disease_ontology DOID:1925 OMIM mapping confirmed by DO. [SN]. Coffin-Siris syndrome DOID:1925 An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. url:http://en.wikipedia.org/wiki/Coffin%E2%80%93Siris_syndrome url:http://ghr.nlm.nih.gov/condition/coffin-siris-syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1465 A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. GARD:8233 ICD10CM:E75.22 MESH:D005776 NCI:C61268 ORDO:355 SNOMEDCT_US_2023_03_01:190794006 UMLS_CUI:C0017205 Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis disease_ontology DOID:1926 Xref MGI. OMIM mapping confirmed by DO. [SN]. Gaucher's disease DOID:1926 A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. url:http://en.wikipedia.org/wiki/Gaucher%27s_disease url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. GARD:7672 ICD10CM:E75.3 MESH:D013106 NCI:C117254 SNOMEDCT_US_2023_03_01:58459009 UMLS_CUI:C0037899 sphingolipidoses disease_ontology DOID:1927 sphingolipidosis DOID:1927 A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. url:https://en.wikipedia.org/wiki/Sphingolipidoses url:https://www.ncbi.nlm.nih.gov/pubmed/28857617 A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. ICD10CM:Q93.82 MESH:D018980 MIM:194050 NCI:C85232 SNOMEDCT_US_2023_03_01:63247009 UMLS_CUI:C0175702 Fanconi Schlesinger syndrome WBS disease_ontology DOID:1928 OMIM mapping confirmed by DO. [LS]. Williams-Beuren syndrome DOID:1928 A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. url:https://ghr.nlm.nih.gov/condition/williams-syndrome url:https://research.nhgri.nih.gov/atlas/condition/williams-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1249/ WBS An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart. GARD:743 ICD10CM:Q25.3 MESH:D021921 MIM:185500 NCI:C85176 SNOMEDCT_US_2023_03_01:204436002 UMLS_CUI:C0003499 Supra-valvular aortic stenosis disease_ontology DOID:1929 supravalvular aortic stenosis DOID:1929 An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart. url:https://ghr.nlm.nih.gov/condition/supravalvular-aortic-stenosis url:https://rarediseases.info.nih.gov/diseases/743/supravalvular-aortic-stenosis An organ system cancer that is manifested in the reproductive organs. DOID:1900 NCI:C3674 UMLS_CUI:C0178830 Reproductive tumor malignant reproductive system neoplasm disease_ontology cancer of reproductive system DOID:193 reproductive organ cancer DOID:193 An organ system cancer that is manifested in the reproductive organs. url:http://en.wikipedia.org/wiki/Reproductive_system#Examples_of_cancers A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2. GARD:12635 MEDDRA:10056710 MESH:D007849 MIM:245800 NCI:C34760 ORDO:2377 SNOMEDCT_US_2023_03_01:232059000 UMLS_CUI:C0023138 LNMS disease_ontology Laurence-Moon-Biedl syndrome DOID:1930 OMIM mapping confirmed by DO. [SN]. Laurence-Moon syndrome DOID:1930 A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2. url:https://www.ncbi.nlm.nih.gov/pubmed/25480986 LNMS A brain disease located_in the hypothalamus. MESH:D007027 SNOMEDCT_US_2023_03_01:88108008 UMLS_CUI:C0020655 disease_ontology DOID:1931 hypothalamic disease DOID:1931 A brain disease located_in the hypothalamus. url:https://en.wikipedia.org/wiki/Hypothalamic_disease url:https://medlineplus.gov/ency/article/002380.htm 1 1 A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. GARD:5810 ICD10CM:Q93.51 MESH:D017204 MIM:105830 NCI:C75462 SNOMEDCT_US_2023_03_01:76880004 UMLS_CUI:C0162635 happy puppet syndrome puppetlike syndrome disease_ontology DOID:1932 OMIM mapping confirmed by DO. [SN]. Angelman syndrome MESH:D017204 DOID:1932 A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. url:https://en.wikipedia.org/wiki/Angelman_syndrome url:https://ghr.nlm.nih.gov/condition/angelman-syndrome#genes url:https://research.nhgri.nih.gov/atlas/condition/angelman-syndrome A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. GARD:7593 ICD10CM:Q87.2 MESH:D012415 MIM:180849 MIM:610543 MIM:613684 NCI:C75466 ORDO:783 SNOMEDCT_US_2023_03_01:157032007 UMLS_CUI:C0035934 Broad Thumb-Hallux syndrome Rubinstein syndrome proximal chromosome 16p13.3 deletion syndrome disease_ontology DOID:1933 Xref MGI. OMIM mapping confirmed by DO. [SN]. Rubinstein-Taybi syndrome DOID:1933 A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. url:http://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome url:http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome url:https://research.nhgri.nih.gov/atlas/condition/rubinstein-taybi-syndrome A bone development disease that results in defective ossification of bone. MESH:D004413 NCI:C34560 SNOMEDCT_US_2023_03_01:109420003 UMLS_CUI:C0013393 disease_ontology DOID:1934 dysostosis DOID:1934 A bone development disease that results in defective ossification of bone. url:http://en.wikipedia.org/wiki/Dysostosis url:http://medical-dictionary.thefreedictionary.com/dysostosis A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. GARD:6866 ICD10CM:Q87.89 MESH:D020788 MIM:PS209900 NCI:C118632 ORDO:110 SNOMEDCT_US_2023_03_01:5619004 UMLS_CUI:C0752166 disease_ontology DOID:1935 OMIM mapping confirmed by DO. [SN]. Bardet-Biedl syndrome DOID:1935 A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. url:http://en.wikipedia.org/wiki/Bardet-Biedl_syndrome url:http://en.wikipedia.org/wiki/Ciliopathy url:http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries. EFO:0003914 ICD10CM:I70 ICD9CM:440 MESH:D050197 NCI:C35768 SNOMEDCT_US_2023_03_01:155414001 UMLS_CUI:C0004153 disease_ontology DOID:1936 atherosclerosis MESH:D050197 DOID:1936 An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries. url:https://www.mayoclinic.org/diseases-conditions/arteriosclerosis-atherosclerosis/symptoms-causes/syc-20350569 url:https://www.ncbi.nlm.nih.gov/books/NBK507799/ disease_ontology DOID:1938 obsolete primary Bacillaceae infectious disease true DOID:1938 disease_ontology DOID:194 obsolete gonadal tissue neoplasm true DOID:194 Alternating intermittent exotropia (disorder) Intermittent alternating exotropia (disorder) Intermittent exotropia, alternating disease_ontology DOID:1941 obsolete intermittent alternating exotropia true DOID:1941 ICD10CM:H50.3 ICD9CM:378.2 SNOMEDCT_US_2023_03_01:74025007 UMLS_CUI:C0152210 Intermittent heterotropia disease_ontology DOID:1942 intermittent squint DOID:1942 ICD10CM:L65.0 ICD9CM:704.02 NCI:C112200 SNOMEDCT_US_2023_03_01:201147004 UMLS_CUI:C0263518 disease_ontology DOID:1943 telogen effluvium DOID:1943 A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively. DOID:10996 ICD10CM:A59 ICD9CM:131 MEDDRA:10044620 MESH:D014245 NCI:C35720 SNOMEDCT_US_2023_03_01:56335008 UMLS_CUI:C0040921 disease_ontology trichomonas infection DOID:1947 trichomoniasis DOID:1947 A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively. url:http://en.wikipedia.org/wiki/Trichomoniasis A cholangitis that is characterized by an inflammation that is located in the gallbladder. DOID:1948 DOID:2829 DOID:9438 GARD:30 ICD10CM:K81 ICD9CM:575.10 MESH:D002764 MIM:600803 NCI:C34465 SNOMEDCT_US_2023_03_01:76581006 UMLS_CUI:C0008325 acute and chronic cholecystitis acute cholecystitis acute on chronic cholecystitis chronic cholecystitis disease_ontology DOID:1949 OMIM mapping confirmed by DO. [SN]. cholecystitis DOID:1949 A cholangitis that is characterized by an inflammation that is located in the gallbladder. url:http://en.wikipedia.org/wiki/Cholecystitis url:https://www.merriam-webster.com/dictionary/cholecystitis#medicalDictionary disease_ontology DOID:195 obsolete reproductive endocrine cancer true DOID:195 benign hypertensive heart disease (disorder) benign hypertensive heart disease NOS (disorder) disease_ontology DOID:1954 obsolete benign hypertensive heart disease true DOID:1954 acinar cell neoplasm acinar cell neoplasm (morphologic abnormality) acinar cell neoplasm NOS (morphologic abnormality) acinar cell tumor (morphologic abnormality) disease_ontology DOID:196 obsolete acinar cell tumor true DOID:196 A female reproductive system disease that is located_in the fallopian tube. MESH:D005184 NCI:C26771 SNOMEDCT_US_2023_03_01:128134005 UMLS_CUI:C0015556 disease_ontology DOID:1962 fallopian tube disease DOID:1962 A female reproductive system disease that is located_in the fallopian tube. url:https://www.ncbi.nlm.nih.gov/pubmed/21415195 A fallopian tube cancer that is located_in the fallopian tube. MESH:D005185 NCI:C3867 SNOMEDCT_US_2023_03_01:276870001 UMLS_CUI:C0238122 cancer of the fallopian tube carcinoma of fallopian tube fallopian tube Ca disease_ontology DOID:1963 fallopian tube carcinoma DOID:1963 A fallopian tube cancer that is located_in the fallopian tube. url:http://www.cancer.gov/dictionary/?CdrID=45687 A female reproductive organ cancer that is located_in fallopian tube. DOID:1961 GARD:9162 ICD10CM:C57.0 ICD9CM:183.2 MESH:D005185 NCI:C3032 NCI:C7480 SNOMEDCT_US_2023_03_01:126916003 SNOMEDCT_US_2023_03_01:93794008 UMLS_CUI:C0015558 UMLS_CUI:C0153579 fallopian tube neoplasm malignant neoplasm of uterine tube malignant tumor of fallopian tube malignant tumour of fallopian tube neoplasm of fallopian tube tumor of the fallopian tube tumor, fallopian tube, malignant disease_ontology DOID:1964 fallopian tube cancer DOID:1964 A female reproductive organ cancer that is located_in fallopian tube. url:http://en.wikipedia.org/wiki/Fallopian_tube_cancer A fallopian tube cancer that dervies_from smooth muscle cells. NCI:C40128 UMLS_CUI:C1517116 disease_ontology DOID:1965 fallopian tube leiomyosarcoma DOID:1965 A fallopian tube cancer that dervies_from smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/20191300 disease_ontology DOID:1966 obsolete fallopian tube soft tissue neoplasm true DOID:1966 A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis. GARD:6880 ICDO:8890/3 MESH:D007890 NCI:C3158 SNOMEDCT_US_2023_03_01:443719001 UMLS_CUI:C0023269 Leiomyosarcomas disease_ontology DOID:1967 leiomyosarcoma DOID:1967 A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis. url:http://www.cancer.gov/dictionary/?CdrID=46027 A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. DOID:1968 ICD10CM:G80 MESH:D002547 NCI:C34460 SNOMEDCT_US_2023_03_01:155024003 UMLS_CUI:C0007789 infantile cerebral palsy disease_ontology DOID:1969 cerebral palsy DOID:1969 A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. url:http://en.wikipedia.org/wiki/Cerebral_palsy url:http://www.brainandspinalcord.org/cerebral-palsy/index.html url:http://www.cerebralpalsy.org/what-is-cerebral-palsy/ glandular cell Epithelium neoplasm disease_ontology DOID:197 obsolete glandular cell epithelial neoplasm true DOID:197 A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. NCI:C40124 UMLS_CUI:C1517117 fallopian tube malignant mixed Mullerian tumor fallopian tube malignant mixed mesodermal (mullerian) tumor disease_ontology DOID:1970 fallopian tube carcinosarcoma DOID:1970 A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. url:http://en.wikipedia.org/wiki/Carcinosarcoma A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. NCI:C40125 UMLS_CUI:C1517121 fallopian tube mullerian adenosarcoma disease_ontology DOID:1973 fallopian tube adenosarcoma DOID:1973 A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/24557435 A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. ICDO:8933/3 MESH:D018195 NCI:C9474 SNOMEDCT_US_2023_03_01:189804002 UMLS_CUI:C0001442 mullerian Adenosarcoma disease_ontology DOID:1974 adenosarcoma MESH:D018195 DOID:1974 A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. url:http://en.wikipedia.org/wiki/Adenosarcoma An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells. NCI:C6452 SNOMEDCT_US_2023_03_01:447137005 UMLS_CUI:C1336744 Thymolipoma disease_ontology DOID:1975 thymus lipoma DOID:1975 An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells. url:https://www.ncbi.nlm.nih.gov/pubmed/24736228 Lipoma of mediastinum disease_ontology DOID:1977 obsolete lipoma of the mediastinum true DOID:1977 Focal choroiditis and chorioretinitis, juxtapapillary Juxtapapillary focal choroiditis AND chorioretinitis (disorder) disease_ontology DOID:1978 obsolete juxtapapillary focal choroiditis and chorioretinitis true DOID:1978 ICD10CM:H30.0 ICD9CM:363.0 SNOMEDCT_US_2023_03_01:15847003 UMLS_CUI:C0154870 disease_ontology DOID:1979 focal chorioretinitis DOID:1979 Mesonephric neoplasm Mesonephric neoplasm (morphology) Mesonephric tumor (morphologic abnormality) Wolffian duct tumour disease_ontology DOID:198 obsolete mesonephric tumor true DOID:198 A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses. disease_ontology DOID:1982 obsolete Rhabdoviridae infectious disease true DOID:1982 A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Rhabdoviridae viruses. url:http://en.wikipedia.org/wiki/Rhabdoviridae A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses. disease_ontology DOID:1983 obsolete Mononegavirales infectious disease true DOID:1983 A (-)ssRNA virus infectious disease that results_in infection in humans, has_material_basis_in Mononegavirales viruses. url:http://en.wikipedia.org/wiki/Mononegavirales An intestinal benign neoplasm located_in the rectum. MESH:D012004 NCI:C3350 SNOMEDCT_US_2023_03_01:126847008 UMLS_CUI:C0034885 Rectal tumor neoplasm of rectum rectum neoplasm disease_ontology DOID:1984 rectal benign neoplasm DOID:1984 An intestinal benign neoplasm located_in the rectum. url:https://www.ncbi.nlm.nih.gov/books/NBK6994/ disease_ontology DOID:1986 obsolete perinatal disease true DOID:1986 fetus disorder disease_ontology DOID:1987 obsolete fetal disease true DOID:1987 NCI:C5553 UMLS_CUI:C1335685 Lymphoma of rectum disease_ontology DOID:1988 rectum lymphoma DOID:1988 metastatic tumor to the rectum disease_ontology DOID:1990 obsolete metastasis to the rectum true DOID:1990 metastatic tumor to the large Intestine secondary malignant neoplasm of large intestine (disorder) disease_ontology DOID:1991 obsolete metastases to large Intestine true DOID:1991 NCI:C4640 SNOMEDCT_US_2023_03_01:276822007 UMLS_CUI:C0349539 malignant melanoma of rectum melanoma of rectum disease_ontology DOID:1992 rectum malignant melanoma DOID:1992 A colorectal cancer that is located_in the rectum. DOID:1989 ICD10CM:C20 ICD9CM:154.1 MESH:D012004 NCI:C7418 NCI:C9382 SNOMEDCT_US_2023_03_01:254582000 SNOMEDCT_US_2023_03_01:93984006 UMLS_CUI:C0007113 UMLS_CUI:C0949022 carcinoma of rectum carcinoma of the rectum malignant Rectal tumor malignant neoplasm of rectum malignant rectum tumor malignant tumor of rectum rectal cancer disease_ontology cancer of rectum DOID:1993 rectum cancer DOID:1993 A colorectal cancer that is located_in the rectum. url:http://www.cancer.gov/dictionary?CdrID=529764 A sarcoma and malignant tumor of rectum that is located_in the rectum. NCI:C5548 UMLS_CUI:C1335688 sarcoma of rectum disease_ontology DOID:1995 rectum sarcoma DOID:1995 A sarcoma and malignant tumor of rectum that is located_in the rectum. url:https://www.ncbi.nlm.nih.gov/pubmed/23712252 A rectum cancer that derives_from epithelial cells of glandular origin. NCI:C9383 SNOMEDCT_US_2023_03_01:254582000 UMLS_CUI:C0149978 Rectal adenocarcinoma disease_ontology DOID:1996 rectum adenocarcinoma DOID:1996 A rectum cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma MESH:D008185 SNOMEDCT_US_2023_03_01:204319006 UMLS_CUI:C0024164 Lutembacher syndrome Lutembacher's anomaly disease_ontology DOID:1998 Lutembacher's syndrome DOID:1998 A otosalpingitis which is persistent and long-lasting. ICD10CM:H68.02 ICD9CM:381.52 SNOMEDCT_US_2023_03_01:194269002 UMLS_CUI:C0155430 chronic eustachian tube salpingitis disease_ontology DOID:1999 chronic eustachian salpingitis DOID:1999 A otosalpingitis which is persistent and long-lasting. url:http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false MESH:D005870 NCI:C3055 SNOMEDCT_US_2023_03_01:443790001 UMLS_CUI:C0017525 disease_ontology DOID:200 benign giant cell tumor DOID:200 A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube. ICD10CM:H68.0 ICD9CM:381.5 SNOMEDCT_US_2023_03_01:194266009 UMLS_CUI:C0155428 Eustachian salpingitis Eustachian tube salpingitis disease_ontology DOID:2000 otosalpingitis DOID:2000 A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube. url:http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false A nervous system benign neoplasm that is characterized as a nerve tissue tumor. ICDO:9570/0 MESH:D009463 NCI:C3275 SNOMEDCT_US_2023_03_01:443892003 UMLS_CUI:C0027858 disease_ontology DOID:2001 neuroma DOID:2001 A nervous system benign neoplasm that is characterized as a nerve tissue tumor. url:http://en.wikipedia.org/wiki/Neuroma A pulmonary tuberculosis involving inflammation that causes extensive thickening of the walls of the trachea with luminal narrowing. Isolated tracheal or bronchial tuberculosis (disorder) Isolated tracheal or bronchial tuberculosis NOS (disorder) Isolated tracheal or bronchial tuberculosis, unspecified examination disease_ontology DOID:2005 obsolete tracheal tuberculosis true DOID:2005 A pulmonary tuberculosis involving inflammation that causes extensive thickening of the walls of the trachea with luminal narrowing. url:http://ats.ctsnetjournals.org/cgi/content/full/82/5/1900 ICD9CM:362.56 MESH:D019773 NCI:C175882 SNOMEDCT_US_2023_03_01:193391002 UMLS_CUI:C0339543 Macular puckering of retina Macular retinal puckering cellophane maculopathy disease_ontology DOID:2006 preretinal fibrosis DOID:2006 ICD10CM:H35.3 ICD9CM:362.5 SNOMEDCT_US_2023_03_01:193384000 UMLS_CUI:C0339436 degeneration of macula and posterior pole of retina degeneration of macula or posterior pole disease_ontology DOID:2007 degeneration of macula and posterior pole DOID:2007 A musculoskeletal system cancer that is located_in connective tissue. MESH:D009372 SNOMEDCT_US_2023_03_01:126598008 UMLS_CUI:C0027656 Tumour of connective tissue connective tissue neoplasm mesenchymal tissue malignant neoplasm neoplasm of connective tissues disease_ontology DOID:201 connective tissue cancer DOID:201 A musculoskeletal system cancer that is located_in connective tissue. url:http://en.wikipedia.org/wiki/Connective_tissue Impaired mobility of ear ossicles, except malleus (disorder) Impaired mobility of other ear ossicles disease_ontology DOID:2010 obsolete impaired mobility of ear ossicles except malleus true DOID:2010 A T cell deficiency that results from the disfunction or underdevelopment of the thymus. ICD10CM:D81.4 ICD9CM:279.13 MIM:242700 ORDO:83471 SNOMEDCT_US_2023_03_01:55602000 UMLS_CUI:C0152094 Nezelof's syndrome T-cell immunodeficiency with thymic aplasia TIDTA thymic aplasia thymic dysplasia with normal immunoglobulins disease_ontology DOID:2012 OMIM mapping confirmed by DO. [SN]. Nezelof syndrome DOID:2012 A T cell deficiency that results from the disfunction or underdevelopment of the thymus. url:https://en.wikipedia.org/wiki/Nezelof_syndrome url:https://meshb.nlm.nih.gov/record/ui?ui=C536288 TIDTA disease_ontology DOID:2014 obsolete perinatal digestive system disorder true DOID:2014 ICD10CM:E16.1 MESH:D006946 SNOMEDCT_US_2023_03_01:154694003 UMLS_CUI:C0020459 hyperinsulinemia disease_ontology DOID:2018 hyperinsulinism DOID:2018 A female reproductive organ cancer that is located_in the placenta. DOID:2023 ICD10CM:C58 ICD9CM:181 NCI:C3555 SNOMEDCT_US_2023_03_01:188187004 UMLS_CUI:C0153572 Placental tumors malignant Placental tumor malignant neoplasm of placenta neoplasm of placenta placental cancer primary malignant neoplasm of placenta disease_ontology DOID:2021 placenta cancer DOID:2021 A female reproductive organ cancer that is located_in the placenta. url:https://www.medstarcancer.org/conditions/gynecologic-cancer/placenta-cancer/ url:https://www.ncbi.nlm.nih.gov/pubmed/26156670, metastatic tumor to the Placenta disease_ontology DOID:2022 obsolete metastatic neoplasm to the placenta true DOID:2022 A gestational choriocarcinoma that is located_in the placenta. NCI:C8893 SNOMEDCT_US_2023_03_01:448401007 UMLS_CUI:C0855173 Choriocarcinoma of the Placenta disease_ontology DOID:2024 placental choriocarcinoma DOID:2024 A gestational choriocarcinoma that is located_in the placenta. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577684/ A choriocarcinoma that develops in the presence of a preceding gestational event. NCI:C4646 SNOMEDCT_US_2023_03_01:1884006 UMLS_CUI:C0349557 Gestational chorionepithelioma Molar pregnancy with choriocarcinoma disease_ontology DOID:2025 gestational choriocarcinoma DOID:2025 A choriocarcinoma that develops in the presence of a preceding gestational event. url:https://en.wikipedia.org/wiki/Gestational_choriocarcinoma disease_ontology DOID:2027 obsolete fetal or neonatal hemorrhage true DOID:2027 A hyperostosis that involves formation of new bone on the surface of preexisting bone. ICD10CM:M27.8 ICD9CM:726.91 MESH:D005096 NCI:C3029 SNOMEDCT_US_2023_03_01:80400009 UMLS_CUI:C1442903 bone spur bony outgrowth orbital exostosis osteophyte swimmer's exostosis disease_ontology DOID:203 exostosis DOID:203 A hyperostosis that involves formation of new bone on the surface of preexisting bone. url:http://en.wikipedia.org/wiki/Exostosis url:http://medical-dictionary.thefreedictionary.com/exostosis A cognitive disorder that involves an excessive, irrational dread of everyday situations. DOID:12884 ICD10CM:F41.9 MESH:D001008 MIM:607834 NCI:C2878 SNOMEDCT_US_2023_03_01:65673007 UMLS_CUI:C0003469 anxiety anxiety state disease_ontology DOID:2030 anxiety disorder DOID:2030 A cognitive disorder that involves an excessive, irrational dread of everyday situations. url:http://www.nimh.nih.gov/health/topics/anxiety-disorders/index.shtml A specific developmental disorder that involves specific developmental disorders of speech and language. ICD10CM:F80.9 MESH:D003147 NCI:C2958 SNOMEDCT_US_2023_03_01:74825008 UMLS_CUI:C0009460 disease_ontology DOID:2033 communication disorder DOID:2033 A specific developmental disorder that involves specific developmental disorders of speech and language. url:http://en.wikipedia.org/wiki/Communication_disorder A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system. MESH:D004678 NCI:C98920 SNOMEDCT_US_2023_03_01:58762006 UMLS_CUI:C0014068 disease_ontology DOID:2034 encephalomalacia DOID:2034 A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system. url:https://en.wikipedia.org/wiki/Cerebral_softening disease_ontology DOID:2038 obsolete urogenital abnormality true DOID:2038 A connective tissue disease characterized by damage of tissues located_in the entheses, the site of insertion of tendons or ligaments into bones or joint capsules, with symptoms of pain, swelling and inflammation. ICD10CM:M77.9 ICD9CM:726.90 MESH:D000070676 SNOMEDCT_US_2023_03_01:278525009 UMLS_CUI:C0242490 disease_ontology DOID:204 enthesopathy MESH:D000070676 DOID:204 A connective tissue disease characterized by damage of tissues located_in the entheses, the site of insertion of tendons or ligaments into bones or joint capsules, with symptoms of pain, swelling and inflammation. url:https://en.wikipedia.org/wiki/Enthesopathy url:https://www.orthomedctr.com/enthesopathy.php A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice. DOID:12591 DOID:12592 DOID:2042 EFO:0004197 MESH:D006509 NCI:C3097 SNOMEDCT_US_2023_03_01:66071002 UMLS_CUI:C0019163 chronic hepatitis B hepatitis B infection disease_ontology Serum hepatitis DOID:2043 hepatitis B DOID:2043 A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice. url:http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf url:https://www.cdc.gov/hepatitis-b/ url:https://www.ncbi.nlm.nih.gov/books/NBK555945/ MESH:D056487 SNOMEDCT_US_2023_03_01:235889003 UMLS_CUI:C0524912 Drug-induced chronic hepatitis disease_ontology DOID:2044 drug-induced hepatitis DOID:2044 A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus (Orthohepadnavirus hominoidei). The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma. Hepatitis delta virus, also known as Hepatitis D virus, is not a single viral species but a group of viruses from the genus Deltavirus including Deltavirus italiense, Deltavirus japanense, Deltavirus peruense, Deltavirus taiwanense, Deltavirus togense, Deltavirus carense, Deltavirus cameroonense, Deltavirus senegalense. DOID:2046 MESH:D003699 SNOMEDCT_US_2023_03_01:424460009 UMLS_CUI:C0011226 delta hepatitis disease_ontology DOID:2047 hepatitis D DOID:2047 A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus (Orthohepadnavirus hominoidei). The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma. Hepatitis delta virus, also known as Hepatitis D virus, is not a single viral species but a group of viruses from the genus Deltavirus including Deltavirus italiense, Deltavirus japanense, Deltavirus peruense, Deltavirus taiwanense, Deltavirus togense, Deltavirus carense, Deltavirus cameroonense, Deltavirus senegalense. url:https://en.wikipedia.org/wiki/Hepatitis_D url:https://www.cdc.gov/hepatitis-d/about/index.html url:https://www.ncbi.nlm.nih.gov/books/NBK470436/ url:https://www.who.int/news-room/fact-sheets/detail/hepatitis-d An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells. DOID:4745 GARD:5871 ICD9CM:571.42 MESH:D019693 NCI:C27778 SNOMEDCT_US_2023_03_01:16098491000119109 UMLS_CUI:C0241910 UMLS_CUI:C1332355 Autoimmune chronic active hepatitis autoimmune hepatitis with centrilobular necrosis disease_ontology DOID:2048 autoimmune hepatitis DOID:2048 An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells. url:http://en.wikipedia.org/wiki/Autoimmune_hepatitis sn:IEDB A bone remodeling disease that results in an abnormal growth of located in bone. ICD10CM:M89.3 MESH:D015576 NCI:C34712 SNOMEDCT_US_2023_03_01:13814009 UMLS_CUI:C0020492 bone hypertrophy hypertrophy of bone disease_ontology DOID:205 hyperostosis DOID:205 A bone remodeling disease that results in an abnormal growth of located in bone. url:http://en.wikipedia.org/wiki/Hyperostosis A maxillary sinusitis which lasts for less than 4 weeks. ICD10CM:J01.0 ICD9CM:461.0 SNOMEDCT_US_2023_03_01:155499007 UMLS_CUI:C0155804 acute antritis disease_ontology DOID:2050 acute maxillary sinusitis DOID:2050 A maxillary sinusitis which lasts for less than 4 weeks. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache. ICD10CM:J32.0 MESH:D015523 NCI:C34809 SNOMEDCT_US_2023_03_01:275484005 UMLS_CUI:C0024959 disease_ontology DOID:2051 maxillary sinusitis DOID:2051 A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html NCI:C27549 UMLS_CUI:C1335666 disease_ontology DOID:2053 reactive cutaneous fibrous lesion DOID:2053 An anxiety disorder which results from a traumatic experience that results in psychological trauma. ICD10CM:F43.1 ICD9CM:309.81 MESH:D013313 NCI:C3389 SNOMEDCT_US_2023_03_01:192415000 UMLS_CUI:C0038436 PTSD traumatic neurosis disease_ontology DOID:2055 post-traumatic stress disorder DOID:2055 An anxiety disorder which results from a traumatic experience that results in psychological trauma. url:http://en.wikipedia.org/wiki/Post-traumatic_stress_disorder PTSD A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp. DOID:2056 GARD:12313 MESH:D002178 MIM:114580 MIM:212050 MIM:607644 MIM:613108 MIM:613956 MIM:614162 MIM:615527 MIM:616445 NCI:C34444 ORDO:1334 SNOMEDCT_US_2023_03_01:234568006 UMLS_CUI:C0006845 disease_ontology DOID:2058 chronic mucocutaneous candidiasis DOID:2058 A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp. url:http://www.merck.com/mmpe/sec13/ch164/ch164f.html?qt=Chronic%20mucocutaneous%20candidiasis&alt=sh A female reproductive system disease that is located_in the vulva. MESH:D014845 NCI:C27631 SNOMEDCT_US_2023_03_01:5089007 UMLS_CUI:C0042994 disease_ontology DOID:2059 vulvar disease DOID:2059 A female reproductive system disease that is located_in the vulva. url:https://en.wikipedia.org/wiki/Vulvar_disease An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth. ICD10CM:Q78.6 MESH:D005097 MIM:133700 MIM:133701 MIM:600209 NCI:C5183 ORDO:321 SNOMEDCT_US_2023_03_01:254044004 UMLS_CUI:C0015306 Multiple congenital exostosis Multiple exostosis syndromes Osteochondromatosis syndrome hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 multiple ostechondromas disease_ontology DOID:206 OMIM mapping confirmed by DO. [SN]. hereditary multiple exostoses DOID:206 An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth. url:http://atlasgeneticsoncology.org/Kprones/HeredMultExostosID10061.html url:http://en.wikipedia.org/wiki/Hereditary_multiple_exostoses url:http://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses url:http://www.mheresearchfoundation.org/ url:http://www.wheelessonline.com/ortho/multiple_cartilaginous_exostoses_hereditary_exostosis A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells. NCI:C40312 UMLS_CUI:C1520091 disease_ontology DOID:2060 vulvar nodular hidradenoma DOID:2060 A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells. url:http://www.pathologyoutlines.com/topic/skintumornonmelanocyticeccrineacrospiroma.html disease_ontology Eccrine nodular hidradenoma DOID:2061 nodular hidradenoma DOID:2061 disease_ontology DOID:2062 obsolete vulvar tumor of skin appendage origin true DOID:2062 A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching. NCI:C40311 UMLS_CUI:C1520099 disease_ontology DOID:2064 vulvar syringoma DOID:2064 A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching. url:https://en.wikipedia.org/wiki/Syringoma url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588787/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190724/ GARD:10547 ICDO:8407/0 MESH:D018252 MIM:186600 NCI:C3761 SNOMEDCT_US_2023_03_01:189051001 UMLS_CUI:C0206673 disease_ontology DOID:2065 syringoma DOID:2065 A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis. NCI:C8596 SNOMEDCT_US_2023_03_01:402841001 UMLS_CUI:C1274281 Fordyce angiokeratoma of vulva disease_ontology DOID:2066 vulvar angiokeratoma DOID:2066 A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228019/ NCI:C6434 UMLS_CUI:C0220616 Bartholin gland neoplasm tumor of Bartholin's gland disease_ontology DOID:2068 Bartholin's gland benign neoplasm DOID:2068 disease_ontology DOID:2069 obsolete vulvar acquired melanocytic nevus true DOID:2069 disease_ontology DOID:2070 obsolete vulvar melanocytic neoplasm true DOID:2070 NCI:C6376 UMLS_CUI:C1336982 disease_ontology DOID:2071 vulvar squamous papilloma DOID:2071 A vulva cancer that has_material_basis_in squamous tissue. NCI:C40283 UMLS_CUI:C1520097 disease_ontology DOID:2072 vulvar squamous tumor DOID:2072 A vulva cancer that has_material_basis_in squamous tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/24342664 ICD10CM:P78.0 ICD9CM:777.6 SNOMEDCT_US_2023_03_01:206526009 UMLS_CUI:C0159006 disease_ontology DOID:2073 perinatal intestinal perforation DOID:2073 ICD9CM:569.83 MESH:D007416 NCI:C39611 SNOMEDCT_US_2023_03_01:56905009 UMLS_CUI:C0021845 Perforation of intestine disease_ontology DOID:2074 intestinal perforation DOID:2074 A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. NCI:C40301 UMLS_CUI:C1510791 disease_ontology adenoma of minor vestibular glands DOID:2075 minor vestibular glands adenoma DOID:2075 A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. url:http://atlasgeneticsoncology.org/Tumors/VulVaginaCarcID5274.html url:https://www.ncbi.nlm.nih.gov/pubmed/14714720 A vulva cancer that has_material_basis_in glandular tissue. NCI:C40292 UMLS_CUI:C1520082 disease_ontology DOID:2076 vulvar glandular tumor DOID:2076 A vulva cancer that has_material_basis_in glandular tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/24342664 disease_ontology DOID:2077 obsolete vulvar congenital melanocytic nevus true DOID:2077 NCI:C40302 UMLS_CUI:C1511091 disease_ontology DOID:2078 chondroid syringoma of the vulva DOID:2078 NCI:C4474 SNOMEDCT_US_2023_03_01:254720009 UMLS_CUI:C0346026 Eccrine mixed tumor Eccrine mixed tumour eccrine mixed tumour of skin mixed Eccrine neoplasm of the skin disease_ontology DOID:2079 eccrine mixed tumor of skin DOID:2079 Familiar neoplastic syndrome disease_ontology DOID:208 obsolete hereditary neoplastic syndrome true DOID:208 A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus. NCI:C40314 UMLS_CUI:C1520100 disease_ontology DOID:2080 vulvar trichoepithelioma DOID:2080 A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236999/ disease_ontology DOID:2083 obsolete vulvar soft tissue tumor true DOID:2083 disease_ontology DOID:2085 obsolete vulvar blue nevus true DOID:2085 Blue naevus Blue nevus (morphologic abnormality) Blue nevus NOS (morphologic abnormality) Blue nevus of skin (disorder) Blue skin nevus disease_ontology DOID:2086 obsolete blue nevus true DOID:2086 ICD10CM:K59.02 ICD9CM:564.02 UMLS_CUI:C0949134 disease_ontology DOID:2088 reviewed 10/2022 & determined to be a symptom obsolete outlet dysfunction constipation true DOID:2088 A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces. ICD10CM:K59.0 ICD9CM:564.0 MESH:D003248 NCI:C37930 SNOMEDCT_US_2022_03_01:363693003 UMLS_CUI:C0009806 disease_ontology DOID:2089 reviewed 10/2022 & determined to be a symptom obsolete constipation true DOID:2089 A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces. url:https://en.wikipedia.org/wiki/Constipation url:https://www.ncbi.nlm.nih.gov/pubmed/19647687 ICD10CM:M12.8 ICD9CM:716.4 NCI:C35761 SNOMEDCT_US_2023_03_01:66191007 UMLS_CUI:C0152083 disease_ontology DOID:2092 transient arthritis DOID:2092 A vulva cancer that has_material_basis_in melanocytes. NCI:C40329 SNOMEDCT_US_2023_03_01:254896002 UMLS_CUI:C0241989 malignant melanoma of vulva disease_ontology DOID:2093 vulvar melanoma DOID:2093 A vulva cancer that has_material_basis_in melanocytes. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514586/ disease_ontology DOID:2094 obsolete vulvar sweat gland cancer true DOID:2094 ICD10CM:C44 NCI:C4810 SNOMEDCT_US_2023_03_01:255095005 UMLS_CUI:C1321904 malignant neoplasm of sweat gland malignant tumor of the Sweat gland disease_ontology DOID:2095 sweat gland cancer DOID:2095 A vulva cancer that has_material_basis_in connective tissue. NCI:C40317 SNOMEDCT_US_2023_03_01:254897006 UMLS_CUI:C0238525 sarcoma of vulva disease_ontology DOID:2096 vulvar sarcoma DOID:2096 A vulva cancer that has_material_basis_in connective tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/25816393 A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features. NCI:C4027 SNOMEDCT_US_2023_03_01:254898001 UMLS_CUI:C1275217 Paget's disease of vulva Vulvar Paget's disease vulval Paget disease disease_ontology DOID:2097 vulval Paget's disease DOID:2097 A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features. url:https://www.ncbi.nlm.nih.gov/pubmed/26971063 A vulva carcinoma that derives_from epithelial cells of glandular origin. NCI:C6380 UMLS_CUI:C1336975 adenocarcinoma of Vulva disease_ontology adenocarcinoma of the vulva DOID:2098 vulva adenocarcinoma DOID:2098 A vulva carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma Extramammary Paget's disease (morphologic abnormality) Paget's disease, extramammary, excluding Paget's disease of bone (morphologic abnormality) extramammary Paget disease disease_ontology DOID:2099 OMIM mapping confirmed by DO. [SN]. obsolete extramammary Paget's disease true DOID:2099 An exostosis that results_in an abnormal growth located_in calcaneus. ICD10CM:M77.3 ICD9CM:726.73 MESH:D036982 SNOMEDCT_US_2023_03_01:156663001 UMLS_CUI:C0158322 disease_ontology Calcaneal spur DOID:210 heel spur DOID:210 An exostosis that results_in an abnormal growth located_in calcaneus. url:http://en.wikipedia.org/wiki/Calcaneal_spur url:http://www.medterms.com/script/main/art.asp?articlekey=7094 disease_ontology DOID:2100 obsolete vulvar metastasis true DOID:2100 A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue. NCI:C4052 SNOMEDCT_US_2023_03_01:254895003 UMLS_CUI:C0280856 Vulvar Epidermoid carcinoma vulvar squamous cell carcinoma disease_ontology squamous cell carcinoma of vulva DOID:2101 vulva squamous cell carcinoma DOID:2101 A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma url:http://en.wikipedia.org/wiki/Vulvar_cancer#Squamous_cell_carcinoma A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres. DOID:0080100 GARD:12301 ICD9CM:359.22 MESH:D009224 NCI:C84912 ORDO:614 UMLS_CUI:C0027127 Batten Turner congenital myopathy Thomsen and Becker disease disease_ontology DOID:2106 OMIM mapping confirmed by DO. [SN]. myotonia congenita DOID:2106 A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres. url:http://rarediseases.org/rare-diseases/myotonia-congenita/ url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=614 url:https://medlineplus.gov/genetics/condition/myotonia-congenita/ An immune system disease that is related to the transplantation of cells, tissues and/or whole organs from one individual to another. disease_ontology DOID:2108 obsolete transplant-related disease true DOID:2108 An immune system disease that is related to the transplantation of cells, tissues and/or whole organs from one individual to another. ls:IEDB disease_ontology DOID:211 obsolete Ankle or tarsus enthesopathy true DOID:211 A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss. DOID:4891 ICD10CM:A07.3 MESH:D021865 NCI:C4076 SNOMEDCT_US_2023_03_01:73034009 UMLS_CUI:C0311386 Infection by Isospora belli and Isospora hominis Isosporosis isosporiasis disease_ontology DOID:2112 cystoisosporiasis DOID:2112 A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss. url:http://www.dpd.cdc.gov/DPDx/HTML/Cystoisosporiasis.htm A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection. MESH:D003048 NCI:C34493 SNOMEDCT_US_2023_03_01:186125004 UMLS_CUI:C0009187 disease_ontology intestinal coccidiosis DOID:2113 coccidiosis DOID:2113 A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection. url:http://en.wikipedia.org/wiki/Coccidiosis A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. DOID:6026 ICD9CM:279.03 SNOMEDCT_US_2023_03_01:190982008 UMLS_CUI:C0154276 B cell (antibody) deficiencies Immunoglobulin heavy chain deficiency immunoglobulin heavy chain deletion disease_ontology DOID:2115 B cell deficiency DOID:2115 A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2601718/pdf/nihms57213.pdf url:http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#WhatisPrimaryImmunodeficiency A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23. GARD:6457 MESH:D005489 MIM:305600 NCI:C84715 ORDO:2092 SNOMEDCT_US_2023_03_01:205573006 UMLS_CUI:C0016395 FDH FODH Goltz syndrome Goltz-Gorlin syndrome disease_ontology DOID:2120 OMIM mapping confirmed by DO. [SN]. focal dermal hypoplasia DOID:2120 A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23. url:https://rarediseases.info.nih.gov/diseases/6457/disease FDH FODH A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. GARD:6317 ICD9CM:757.31 MESH:D004476 MIM:PS305100 NCI:C84683 ORDO:79373 SNOMEDCT_US_2023_03_01:8654005 UMLS_CUI:C0013575 Congenital ectodermal defect Congenital ectodermal dysplasia disease_ontology DOID:2121 ectodermal dysplasia DOID:2121 A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. url:https://en.wikipedia.org/wiki/Ectodermal_dysplasia url:https://medlineplus.gov/ency/article/001469.htm A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing. ICD10CM:A21.2 ICD9CM:021.2 SNOMEDCT_US_2023_03_01:186297007 UMLS_CUI:C0339946 Pneumonic tularaemia bronchopneumonic tularemia pulmonary tularemia disease_ontology DOID:2122 pneumonic tularemia DOID:2122 A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing. url:http://www.cdc.gov/tularemia/signssymptoms/ A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted by dog tick bite (Dermacentor variabilis), transmitted by deer flies (Chrysops sp) or transmitted by contact with infected animal tissues. GARD:396 ICD9CM:021.8 SNOMEDCT_US_2023_03_01:186298002 UMLS_CUI:C0029835 disease_ontology DOID:2123 tularemia DOID:2123 A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted by dog tick bite (Dermacentor variabilis), transmitted by deer flies (Chrysops sp) or transmitted by contact with infected animal tissues. url:http://www.cdc.gov/tularemia/index.html DOID:1320 intracranial central nervous system tumors intracranial tumor (disorder) intracranial tumors, malignant malignant intracranial neoplasm disease_ontology DOID:2124 obsolete intracranial neoplasm true DOID:2124 A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells. NCI:C6284 UMLS_CUI:C1332606 germinoma of the brain intracranial germinoma disease_ontology DOID:2127 brain germinoma DOID:2127 A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells. url:https://en.wikipedia.org/wiki/Germinoma disease_ontology DOID:2128 obsolete intracranial germinoma true DOID:2128 A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. ICDO:9508/3 NCI:C6906 ORDO:99966 SNOMEDCT_US_2023_03_01:128792003 UMLS_CUI:C1266184 AT/RT ATRT Atypical teratoid/rhabdoid tumor Atypical teratoid/rhabdoid tumour Rhabdoid tumor of the CNS Rhabdoid tumour of the CNS atypical teratoid rhabdoid tumour disease_ontology DOID:2129 atypical teratoid rhabdoid tumor DOID:2129 MIM:609322 A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. url:http://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor AT/RT ATRT malignant pediatric tumor of CNS disease_ontology DOID:2131 obsolete childhood malignant central nervous system neoplasm true DOID:2131 A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm. NCI:C5154 UMLS_CUI:C1332607 sarcoma of the brain disease_ontology DOID:2132 brain sarcoma DOID:2132 A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm. url:https://www.ncbi.nlm.nih.gov/pubmed/12170093 A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm. NCI:C5153 UMLS_CUI:C1332892 sarcoma of the CNS disease_ontology DOID:2133 central nervous system sarcoma DOID:2133 A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm. url:https://en.wikipedia.org/wiki/Sarcoma url:https://www.ncbi.nlm.nih.gov/pubmed/12170093 DOID:2134 ICD10CM:C71.2 ICD9CM:191.2 NCI:C5567 SNOMEDCT_US_2023_03_01:126955002 SNOMEDCT_US_2023_03_01:94086000 UMLS_CUI:C0153636 UMLS_CUI:C1263887 malignant neoplasm of temporal lobe neoplasm of temporal lobe tumor of Temporal Lobe disease_ontology DOID:2135 temporal lobe neoplasm DOID:2135 SNOMEDCT_US_2023_03_01:126884005 UMLS_CUI:C0341766 neoplasm of paraurethral glands tumor of the Paraurethral gland disease_ontology DOID:2139 paraurethral gland neoplasm DOID:2139 ICD10CM:K03.8 ICD9CM:521.8 SNOMEDCT_US_2023_03_01:197505001 UMLS_CUI:C0029770 disease_ontology DOID:214 teeth hard tissue disease DOID:214 NCI:C5061 UMLS_CUI:C1519826 disease_ontology DOID:2140 urethral urothelial papilloma DOID:2140 An urethral benign neoplasm that derives_from smooth muscle cells. NCI:C6171 UMLS_CUI:C1336888 leiomyoma of the urethra disease_ontology DOID:2142 urethra leiomyoma DOID:2142 An urethral benign neoplasm that derives_from smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141528/ An ovarian cancer that derives_from mesothelial tissue. NCI:C40444 UMLS_CUI:C1518721 disease_ontology DOID:2143 ovarian malignant mesothelioma DOID:2143 An ovarian cancer that derives_from mesothelial tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/8764743 An ovarian cancer that is characterized by cystic structure. NCI:C3843 UMLS_CUI:C0235770 disease_ontology DOID:2145 malignant ovarian cyst DOID:2145 An ovarian cancer that is characterized by cystic structure. url:https://www.ncbi.nlm.nih.gov/pubmed/23627408 An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. NCI:C8267 SNOMEDCT_US_2023_03_01:423627007 UMLS_CUI:C0280746 sarcoma of Ovary disease_ontology DOID:2146 ovary sarcoma DOID:2146 An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. url:https://www.ncbi.nlm.nih.gov/pubmed/21740740 soft tissue tumor of Ovary disease_ontology DOID:2147 obsolete ovary soft tissue neoplasm true DOID:2147 An urogenital tuberculosis that results_in inflammtion located_in ovary. ICD10CM:A18.17 ICD9CM:016.6 SNOMEDCT_US_2023_03_01:186242002 UMLS_CUI:C0152828 disease_ontology DOID:2148 tuberculous oophoritis DOID:2148 An urogenital tuberculosis that results_in inflammtion located_in ovary. url:https://www1.cgmh.org.tw/intr/intr5/c6700/OBGYN/f/web/Oophoritis/index.htm An extrapulmonary tuberculosis that is located_in urogenital system. ICD10CM:A18.1 ICD9CM:016 MESH:D014401 SNOMEDCT_US_2023_03_01:4445009 UMLS_CUI:C0041333 disease_ontology Genitourinary tuberculosis DOID:2149 urogenital tuberculosis DOID:2149 An extrapulmonary tuberculosis that is located_in urogenital system. url:http://en.wikipedia.org/wiki/Urogenital_tuberculosis An ovarian cancer that arises_from lymphocytes. NCI:C40021 UMLS_CUI:C1518720 disease_ontology DOID:2150 ovarian lymphoma DOID:2150 An ovarian cancer that arises_from lymphocytes. url:https://www.ncbi.nlm.nih.gov/pubmed/23905454 An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary. NCI:C40026 UMLS_CUI:C1518236 disease_ontology DOID:2151 malignant ovarian surface epithelial-stromal neoplasm DOID:2151 An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary. url:https://www.sciencedirect.com/science/article/pii/0046817791902054 An ovarian cancer that is derives_from ovarian surface epithelium. NCI:C4381 SNOMEDCT_US_2023_03_01:237057005 UMLS_CUI:C0341823 Ovarian Surface epithelial-Stromal tumor disease_ontology DOID:2152 ovary epithelial cancer DOID:2152 An ovarian cancer that is derives_from ovarian surface epithelium. url:http://en.wikipedia.org/wiki/Ovarian_cancer url:http://en.wikipedia.org/wiki/Surface_epithelial-stromal_tumor A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries. NCI:C40443 UMLS_CUI:C1518746 disease_ontology ovarian Wilms' tumor DOID:2153 ovarian Wilms' cancer DOID:2153 A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries. url:https://www.ncbi.nlm.nih.gov/pubmed/18260155 A kidney cancer that affects the kidneys and typically occuring in children. DOID:5177 DOID:5180 ICDO:8960/3 MESH:D009396 MIM:194070 NCI:C27730 NCI:C3267 NCI:C6180 SNOMEDCT_US_2023_03_01:25081006 UMLS_CUI:C0027708 UMLS_CUI:C1332219 UMLS_CUI:C1333015 adult nephroblastoma disease_ontology Wilms' tumor DOID:2154 OMIM mapping confirmed by DO. [SN]. nephroblastoma DOID:2154 A kidney cancer that affects the kidneys and typically occuring in children. url:http://en.wikipedia.org/wiki/Wilms%27_tumor MESH:C562841 NCI:C4514 SNOMEDCT_US_2023_03_01:254869000 UMLS_CUI:C0346180 malignant Ovarian germ cell tumor malignant germ cell tumor of ovary disease_ontology DOID:2155 malignant ovarian germ cell neoplasm DOID:2155 An ovarian cancer that originates in the germ (egg) cells of the ovary. GARD:9330 MIM:603737 NCI:C3873 SNOMEDCT_US_2023_03_01:237059008 UMLS_CUI:C0238324 germ cell neoplasm of Ovary germ cell tumor of ovary disease_ontology ovarian germ cell tumor DOID:2156 OMIM mapping confirmed by DO. [SN]. ovarian germ cell cancer DOID:2156 An ovarian cancer that originates in the germ (egg) cells of the ovary. url:http://www.cancer.gov/cancertopics/pdq/treatment/ovarian-germ-cell/Patient metastasis to lung metastatic tumor to the lung secondary malignant neoplasm of lung secondary malignant neoplasm of lung (disorder) disease_ontology DOID:2158 obsolete lung metastasis true DOID:2158 A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel. DOID:10785 DOID:10870 DOID:11913 EFO:0003819 ICD10CM:K02 ICD10CM:K02.6 ICD9CM:521.0 ICD9CM:521.07 MESH:D003731 NCI:C52593 SNOMEDCT_US_2023_03_01:155632007 UMLS_CUI:C0011334 UMLS_CUI:C1456145 Dental caries extending into pulp Dental caries of smooth surface Dental caries pit and fissure disease_ontology DOID:216 dental caries DOID:216 A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel. url:https://www.nidcr.nih.gov/health-info/tooth-decay DOID:4728 NCI:C27102 SNOMEDCT_US_2023_03_01:232340005 UMLS_CUI:C0339820 disease_ontology DOID:2163 nasal cavity disease DOID:2163 ICD9CM:521.01 SNOMEDCT_US_2023_03_01:80353004 UMLS_CUI:C0266853 Dental caries limited to enamel primary dental caries simple dental cavity disease_ontology DOID:217 enamel caries DOID:217 A vaginal disease that is characterized by inflammation of the vagina. DOID:10769 ICD9CM:616.1 MESH:D014627 NCI:C26911 SNOMEDCT_US_2023_03_01:198212006 SNOMEDCT_US_2023_03_01:393596009 UMLS_CUI:C0042267 UMLS_CUI:C0042268 disease_ontology DOID:2170 vaginitis DOID:2170 A vaginal disease that is characterized by inflammation of the vagina. url:https://www.ncbi.nlm.nih.gov/pubmed/21524046 malignant neoplasm of the eyelid malignant tumor of eyelid (disorder) disease_ontology DOID:2172 obsolete malignant eyelid tumor true DOID:2172 MESH:D005142 NCI:C3031 SNOMEDCT_US_2023_03_01:278697001 UMLS_CUI:C0015424 tumor of the eyelid disease_ontology DOID:2173 eyelid benign neoplasm DOID:2173 A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye. DOID:9985 ICD9CM:190.8 MESH:D005134 NCI:C3030 SNOMEDCT_US_2023_03_01:126995000 SNOMEDCT_US_2023_03_01:188277006 UMLS_CUI:C0015414 UMLS_CUI:C0153632 Ocular tumor eye neoplasm malignant eye neoplasm neoplasm of eye neoplasm of eye proper disease_ontology DOID:2174 ocular cancer DOID:2174 A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye. url:http://en.wikipedia.org/wiki/Eye url:http://en.wikipedia.org/wiki/Eye_neoplasm DOID:11083 DOID:11225 DOID:11534 DOID:13284 DOID:13537 DOID:13688 DOID:2175 DOID:2380 ICD9CM:680.9 UMLS_CUI:C0007079 Carbuncle and furuncle of buttock Carbuncle and furuncle of face carbuncle and furuncle of any part of face except eye carbuncle and furuncle of foot carbuncle and furuncle of gluteal region carbuncle and furuncle of hand carbuncle and furuncle of leg except foot carbuncle and furuncle of neck carbuncle and furuncle of trunk carbuncle and furuncle of upper arm and forearm disease_ontology DOID:2176 carbuncle DOID:2176 DOID:11640 DOID:11641 DOID:12099 DOID:12100 DOID:12496 DOID:12497 DOID:12648 DOID:12649 DOID:12947 DOID:12948 DOID:12949 DOID:9624 DOID:9625 DOID:9627 DOID:9628 DOID:9629 Asymptomatic bacteriuria antepartum Asymptomatic bacteriuria in pregnancy, with delivery Asymptomatic bacteriuria postpartum Gonorrhea + pregnancy Infectious and parasitic conditions in the mother classifiable elsewhere, but complicating pregnancy, childbirth, or the puerperium Syphilis + pregnancy Syphilis complicating pregnancy, childbirth, or the puerperium antepartum gonorrhea antepartum malaria antepartum syphilis gonorrhea complicating pregnancy, childbirth, or the puerperium gonorrhea of mother with delivery malaria complicating pregnancy, childbirth, or the puerperium malaria of mother with delivery postpartum gonorrhea postpartum malaria postpartum syphilis syphilis of mother, complicating pregnancy, with delivery disease_ontology DOID:2177 obsolete complications mainly related to pregnancy true DOID:2177 Diabetes mellitus juvenile type, uncontrolled, with ophthalmic manifestations Diabetes mellitus type I [juvenile type], uncontrolled, with ophthalmic manifestations disease_ontology DOID:2179 obsolete diabetes mellitus insulin dependent type, uncontrolled, with ophthalmic manifestations true DOID:2179 ICD10CM:C18.2 ICD9CM:153.6 SNOMEDCT_US_2023_03_01:93683002 UMLS_CUI:C0153439 Ca ascending colon malignant neoplasm of right colon malignant tumor of ascending colon disease_ontology DOID:218 ascending colon cancer DOID:218 disease_ontology DOID:2180 obsolete diabetic oculopathy true DOID:2180 ICD10CM:E89.1 ICD9CM:251.3 SNOMEDCT_US_2023_03_01:190437000 UMLS_CUI:C0154190 Postsurgical hypoinsulinemia disease_ontology DOID:2181 post-surgical hypoinsulinemia DOID:2181 DOID:14733 (Macroencephaly) or (megalencephaly) or (enlarged brain) or (macrocephaly) Cole-Hughes syndrome MACROCEPHALY, benign familial Macrocephaly (disorder) megacephaly disease_ontology DOID:2186 obsolete macrocephaly true DOID:2186 A dental enamel hypoplasia characterized by abnormal enamel formation. GARD:5791 ICD10CM:K00.5 MESH:D000567 MIM:PS104500 ORDO:88661 SNOMEDCT_US_2023_03_01:78494001 UMLS_CUI:C0002452 disease_ontology DOID:2187 Xref MGI. amelogenesis imperfecta DOID:2187 A dental enamel hypoplasia characterized by abnormal enamel formation. url:http://en.wikipedia.org/wiki/Amelogenesis_imperfecta url:http://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/501/viewAbstract A colorectal cancer that is located_in the colon. ICD10CM:C18 ICD9CM:153 MESH:D003110 NCI:C9242 SNOMEDCT_US_2023_03_01:363406005 UMLS_CUI:C0007102 disease_ontology DOID:219 colon cancer DOID:219 A colorectal cancer that is located_in the colon. url:http://www.cancer.gov/dictionary?CdrID=44237 url:https://www.genome.gov/Genetic-Disorders/Colon-Cancer A perichondritis of auricle with a sudden onset and a short course. ICD9CM:380.01 SNOMEDCT_US_2023_03_01:45855004 UMLS_CUI:C0155390 disease_ontology DOID:221 acute perichondritis of pinna DOID:221 A perichondritis of auricle with a sudden onset and a short course. url:http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor. GARD:10766 MESH:D005177 MIM:613225 MIM:613235 NCI:C98941 SNOMEDCT_US_2023_03_01:50189006 UMLS_CUI:C0015530 Factor XIII deficiency disease Hereditary factor XIII deficiency disease deficiency, Laki-Lorand factor disease_ontology DOID:2211 OMIM mapping confirmed by DO. [SN]. factor XIII deficiency DOID:2211 A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor. url:http://omim.org/entry/613225 url:http://omim.org/entry/613235 url:https://ghr.nlm.nih.gov/condition/factor-xiii-deficiency#inheritance disease_ontology DOID:2212 obsolete coagulation protein disease true DOID:2212 ICD10CM:D69.9 ICD9CM:287.9 MESH:D006474 SNOMEDCT_US_2023_03_01:268884000 UMLS_CUI:C0019087 Hemorrhagic diathesis disease_ontology DOID:2213 hemorrhagic disease DOID:2213 MESH:D025861 ORDO:98429 UMLS_CUI:C0852077 disease_ontology DOID:2214 obsolete inherited blood coagulation disease true DOID:2214 A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade. GARD:2238 ICD10CM:D68.2 MESH:D005168 MIM:227500 NCI:C131631 ORDO:327 SNOMEDCT_US_2023_03_01:154820003 UMLS_CUI:C0015503 deficiency, stable disease_ontology DOID:2215 factor VII deficiency MIM:227500 ORDO:327 DOID:2215 A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade. url:http://omim.org/entry/227500 url:https://ghr.nlm.nih.gov/condition/factor-vii-deficiency#genes GARD:2237 ICD10CM:D68.2 MESH:D005166 MIM:227400 NCI:C98938 SNOMEDCT_US_2023_03_01:191284007 UMLS_CUI:C0015499 Hereditary hypoproaccelerinaemia Labile factor deficiency Proaccelerin deficiency deficiency, labile disease_ontology DOID:2216 OMIM mapping confirmed by DO. [SN]. factor V deficiency DOID:2216 A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib. MESH:D001606 MIM:231200 NCI:C84595 ORDO:274 SNOMEDCT_US_2023_03_01:54569005 UMLS_CUI:C0005129 Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier disease_ontology DOID:2217 OMIM mapping confirmed by DO. [SN]. Bernard-Soulier syndrome DOID:2217 A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib. url:https://www.ncbi.nlm.nih.gov/pubmed/10706630 url:https://www.ncbi.nlm.nih.gov/pubmed/8481514 url:https://www.ncbi.nlm.nih.gov/pubmed/8703016 url:https://www.ncbi.nlm.nih.gov/pubmed/9616133 A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction. MESH:D001791 NCI:C131634 SNOMEDCT_US_2023_03_01:22716005 UMLS_CUI:C0005818 Thrombocytopathy platelet disorder disease_ontology DOID:2218 blood platelet disease DOID:2218 A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction. url:https://www.merckmanuals.com/home/blood-disorders/platelet-disorders/overview-of-platelet-disorders A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32. GARD:2478 ICD10CM:D69.1 MESH:D013915 MIM:273800 NCI:C61249 ORDO:849 SNOMEDCT_US_2023_03_01:32942005 UMLS_CUI:C0040015 BDPLT2 Glanzmann thrombasthenia Glycoprotein IIb/IIIa defect Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia of Glanzmann and Naegeli disease_ontology DOID:2219 OMIM mapping confirmed by DO. [LS]. Glanzmann's thrombasthenia DOID:2219 A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32. url:https://www.ncbi.nlm.nih.gov/pubmed/16463284 url:https://www.ncbi.nlm.nih.gov/pubmed/2014236 url:https://www.ncbi.nlm.nih.gov/pubmed/9160670 BDPLT2 An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. ICD10CM:H61.0 ICD9CM:380.00 SNOMEDCT_US_2023_03_01:155210008 UMLS_CUI:C0155389 Perichondritis and chondritis of pinna Perichondritis of pinna disease_ontology DOID:222 perichondritis of auricle DOID:222 An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. url:http://www.merck.com/mmhe/sec19/ch219/ch219d.html?qt=perichondritis&alt=sh url:http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood. GARD:6404 MESH:D005171 MIM:227600 NCI:C131632 ORDO:328 SNOMEDCT_US_2023_03_01:76642003 UMLS_CUI:C0015519 disease, Stuart-Prower disease_ontology DOID:2222 factor X deficiency MIM:227600 ORDO:328 DOID:2222 A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood. url:https://rarediseases.org/rare-diseases/factor-x-deficiency/ GARD:5034 MESH:D010981 MIM:185050 SNOMEDCT_US_2023_03_01:234474009 UMLS_CUI:C0032197 Dense body defect Platelet dense granule deficiency Platelet storage pool defect disease_ontology DOID:2223 platelet storage pool deficiency DOID:2223 A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets. GARD:6594 ICD10CM:D47.3 ICD9CM:238.71 ICDO:9962/3 MESH:D013920 MIM:187950 MIM:601977 MIM:614521 NCI:C3407 ORDO:3318 ORDO:71493 SNOMEDCT_US_2023_03_01:234499005 UMLS_CUI:C0040028 Essential thrombocythaemia familial thrombocytosis hemorrhagic thrombocythemia hereditary thrombocythemia primary Thrombocytosis disease_ontology DOID:2224 Xref MGI. OMIM mapping confirmed by DO. [SN]. essential thrombocythemia DOID:2224 A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets. url:http://www.webmd.com/a-to-z-guides/thrombocythemia-essential NCI:C7066 UMLS_CUI:C1334687 disease_ontology DOID:2225 A legacy term, obsoleted. obsolete megakaryocytic tumor true DOID:2225 A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood. DOID:6002 ICD10CM:D47.1 ICDO:9960/3 NCI:C4345 SNOMEDCT_US_2023_03_01:115248004 UMLS_CUI:C1292778 CMPD CMPD, U chronic myeloproliferative disease disease_ontology DOID:2226 myeloproliferative neoplasm DOID:2226 A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood. url:http://www.bloodjournal.org/content/114/5/937.long url:http://www.cancer.gov/cancertopics/types/myeloproliferative CMPD CMPD, U disease_ontology DOID:2227 obsolete malignant neoplasm of lymphatic and hemopoietic tissue true DOID:2227 A blood platelet disease that is characterized by the presence of high platelet counts in the blood. ICD10CM:D75.83 MESH:D013922 NCI:C35530 SNOMEDCT_US_2023_03_01:165557006 UMLS_CUI:C0836924 Thrombocythaemia disease_ontology DOID:2228 thrombocytosis DOID:2228 A blood platelet disease that is characterized by the presence of high platelet counts in the blood. url:http://en.wikipedia.org/wiki/Thrombocytosis url:http://my.clevelandclinic.org/disorders/thrombocytosis/hic_thrombocytosis.aspx A hemophilia that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2. GARD:9670 ICD10CM:D68.1 ICD9CM:286.2 MESH:D005173 MIM:612416 NCI:C84705 SNOMEDCT_US_2023_03_01:49762007 UMLS_CUI:C0015523 Congenital factor XI deficiency Hereditary factor XI deficiency disease Rosenthal's disease hemophilia C plasma thromboplastin antecedent deficiency disease_ontology DOID:2229 OMIM mapping confirmed by DO. [SN]. factor XI deficiency DOID:2229 A hemophilia that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2. url:https://ghr.nlm.nih.gov/condition/factor-xi-deficiency url:https://www.omim.org/entry/612416 ICD9CM:435.0 MESH:D014715 NCI:C34413 SNOMEDCT_US_2023_03_01:195197005 UMLS_CUI:C0004812 Basilar artery syndrome disease_ontology DOID:223 basilar artery insufficiency DOID:223 Haemophilia Hemophilia (disorder) Hemophilia NOS hemophilia disease_ontology DOID:2230 obsolete hemophilia true DOID:2230 A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33. GARD:6558 MESH:D005175 MIM:234000 NCI:C131740 ORDO:330 SNOMEDCT_US_2023_03_01:46981006 UMLS_CUI:C0015526 Factor XII deficiency disease Hageman Factor deficiency deficiency, Hageman disease_ontology DOID:2231 OMIM mapping confirmed by DO. [SN]. factor XII deficiency DOID:2231 A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33. url:http://omim.org/entry/234000 url:https://rarediseases.org/rare-diseases/factor-xii-deficiency/ disease_ontology DOID:2232 obsolete coagulation factor deficiency true DOID:2232 disease_ontology DOID:2233 obsolete partial epilepsy with impairment of consciousness true DOID:2233 An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. MESH:D004828 NCI:C122812 SNOMEDCT_US_2023_03_01:230381009 UMLS_CUI:C0014547 localisation-related epilepsy partial epilepsy disease_ontology DOID:2234 focal epilepsy DOID:2234 An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. url:http://en.wikipedia.org/wiki/Epilepsy url:http://en.wikipedia.org/wiki/Focal_epilepsy url:http://www.aafp.org/afp/2001/0701/p91.html A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11. MESH:C562724 MIM:613679 NCI:C26799 ORDO:325 SNOMEDCT_US_2023_03_01:33297000 UMLS_CUI:C0272317 Congenital factor II deficiency Hereditary factor II deficiency disease hypoprothrombinemia disease_ontology Factor II deficiency DOID:2235 OMIM mapping confirmed by DO. [SN]. prothrombin deficiency DOID:2235 A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11. url:https://ghr.nlm.nih.gov/condition/prothrombin-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/30306070 url:https://www.omim.org/entry/613679 url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=325 A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I). GARD:5761 MESH:D000347 MIM:202400 NCI:C98130 SNOMEDCT_US_2023_03_01:278504009 UMLS_CUI:C0001733 Factor I deficiency Fibrinogen deficiency disease_ontology DOID:2236 OMIM mapping confirmed by DO. [SN]. congenital afibrinogenemia DOID:2236 A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I). url:https://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia#synonyms DOID:12352 DOID:14551 DOID:1706 DOID:1707 DOID:2238 ICD10CM:K73.9 ICD9CM:570 ICD9CM:571.4 ICD9CM:571.41 MESH:D006521 NCI:C82978 SNOMEDCT_US_2023_03_01:155813004 SNOMEDCT_US_2023_03_01:197268000 SNOMEDCT_US_2023_03_01:266539002 UMLS_CUI:C0001308 UMLS_CUI:C0019189 UMLS_CUI:C0149519 acute and subacute liver necrosis acute hepatitis acute/subac. necrosis of liver animal hepatitis chronic hepatitis chronic persistent hepatitis disease_ontology DOID:2237 hepatitis DOID:2237 NCI:C27015 SNOMEDCT_US_2023_03_01:86514004 UMLS_CUI:C0235369 disease_ontology DOID:2239 granulomatous hepatitis DOID:2239 A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death. DOID:2315 ICD10CM:G45.9 MESH:D002546 NCI:C50781 SNOMEDCT_US_2023_03_01:195196001 UMLS_CUI:C0007787 TIA TIA - Transient ischaemic attack Transient cerebral ischaemia Transient ischemic attacks transient ischemic attack disease_ontology DOID:224 transient cerebral ischemia DOID:224 A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death. url:https://en.wikipedia.org/wiki/Transient_ischemic_attack TIA Major depressive disorder, recurrent episode, mild degree Mild recurrent major depression (disorder) recurrent major depressive episodes, mild (disorder) disease_ontology DOID:2242 obsolete mild recurrent major depression true DOID:2242 A bone structure disease that involves degeneration between vertebra located_in vertebral column. DOID:8708 DOID:8709 DOID:8888 DOID:8905 DOID:9949 ICD10CM:M47 ICD9CM:721.9 MESH:D055009 MIM:184300 SNOMEDCT_US_2023_03_01:8847002 UMLS_CUI:C0038019 Lumbar spondylosis with myelopathy Spondylogenic compression of lumbar spinal cord Spondylogenic compression of thoracic spinal cord Thoracic or lumbar spondylosis with myelopathy lumbosacral spondylosis without myelopathy spondylosis with myelopathy disease_ontology DOID:2247 spondylosis DOID:2247 A bone structure disease that involves degeneration between vertebra located_in vertebral column. url:http://en.wikipedia.org/wiki/Spondylosis url:http://www.mayoclinic.com/health/cervical-spondylosis/DS00697 url:http://www.nlm.nih.gov/medlineplus/ency/article/000436.htm url:http://www.spine-health.com/conditions/back-pain/spondylosis-what-it-actually-means url:https://www.spineuniverse.com/conditions/spondylosis/spondylosis A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. MESH:D013577 NCI:C28193 SNOMEDCT_US_2023_03_01:64572001 UMLS_CUI:C0039082 disease_ontology DOID:225 syndrome DOID:225 A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. url:https://www.merriam-webster.com/dictionary/syndrome#medicalDictionary ICD10CM:N88.4 ICD9CM:622.6 SNOMEDCT_US_2023_03_01:35863000 UMLS_CUI:C0020561 disease_ontology DOID:2251 hypertrophic elongation of cervix DOID:2251 An uterine disease that is located_in the cervix. MESH:D002577 NCI:C40241 SNOMEDCT_US_2023_03_01:63339007 UMLS_CUI:C0007867 disease_ontology DOID:2253 cervix disease DOID:2253 An uterine disease that is located_in the cervix. url:https://www.mdedge.com/obgmanagement/article/136739/gynecology/2017-update-cervical-disease disease_ontology DOID:2255 obsolete short rib-polydactyly syndrome true DOID:2255 A bone development disease that results_in defective development of cartilage or bone. DOID:1764 ICD10CM:Q78.9 ICD9CM:756.4 MESH:D010009 NCI:C34466 NCI:C84978 SNOMEDCT_US_2023_03_01:205510001 SNOMEDCT_US_2023_03_01:67988000 UMLS_CUI:C0008449 UMLS_CUI:C0029422 Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia disease_ontology DOID:2256 osteochondrodysplasia DOID:2256 A bone development disease that results_in defective development of cartilage or bone. url:http://en.wikipedia.org/wiki/Osteochondrodysplasia Spirochetes infectious disease disease_ontology DOID:2257 Was annotated with alternate_id: DOID:0060034 (last included in release 2023-08-08) but has been removed because the IRI was inadvertently reused for a new disease (starting with release v2022-11-30) and the original disease for the IRI only existed in the ontology for 2 days (2010-06-08 to 10) while the ontology was still in the alpha phase of development [JAB]. obsolete primary Spirochaetales infectious disease true DOID:2257 Treponema infection Treponemal disease Treponemal infection Treponemal infectious disease disease_ontology DOID:2265 obsolete Treponema infectious disease true DOID:2265 An arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself. ICD10CM:M24.6 ICD9CM:718.5 MESH:D000844 NCI:C171941 SNOMEDCT_US_2023_03_01:36504009 UMLS_CUI:C0003090 disease_ontology DOID:227 ankylosis MESH:D000844 DOID:227 An arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself. url:http://en.wikipedia.org/wiki/Ankylosis A candidiasis that involves fungal infection of the oropharynx in immunocompromised patients caused by Candida species resulting in formation of white plaques on the buccal mucosa, tongue, gums, palate, or pharynx. The symptoms include burning or dryness of the mouth, loss of taste, and pain on swallowing. Oropharyngeal Candidiasis oropharyngeal thrush disease_ontology DOID:2271 obsolete oropharyngeal candidiasis true DOID:2271 A candidiasis that involves fungal infection of the oropharynx in immunocompromised patients caused by Candida species resulting in formation of white plaques on the buccal mucosa, tongue, gums, palate, or pharynx. The symptoms include burning or dryness of the mouth, loss of taste, and pain on swallowing. url:http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge. ICD10CM:B37.3 ICD9CM:112.1 MESH:D002181 NCI:C2914 SNOMEDCT_US_2023_03_01:154404004 UMLS_CUI:C0700345 Candidal cervix Candidal vulvovaginitis Candidiasis of vulva and vagina Monilial vulvovaginitis disease_ontology DOID:2272 vulvovaginal candidiasis DOID:2272 A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge. url:http://en.wikipedia.org/wiki/Vulvovaginal_candidiasis A female reproductive system disease that is characterized by inflammation of the vagina and vulva. ICD10CM:N76.0 MESH:D014848 NCI:C35131 SNOMEDCT_US_2023_03_01:155981006 UMLS_CUI:C0042998 Vulvo-vaginitis disease_ontology DOID:2273 vulvovaginitis DOID:2273 A female reproductive system disease that is characterized by inflammation of the vagina and vulva. url:https://www.ncbi.nlm.nih.gov/pubmed/26001874 An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever. DOID:10455 DOID:11586 DOID:11588 DOID:938 DOID:939 ICD10CM:J02 ICD9CM:462 ICD9CM:472 ICD9CM:478.20 MESH:D010608 MESH:D010612 NCI:C26850 NCI:C26851 NCI:C34355 SNOMEDCT_US_2023_03_01:195654001 SNOMEDCT_US_2023_03_01:195763009 SNOMEDCT_US_2023_03_01:37616004 SNOMEDCT_US_2023_03_01:75860007 UMLS_CUI:C0001344 UMLS_CUI:C0031345 UMLS_CUI:C0031350 UMLS_CUI:C0155824 Inflamed throat Persistent sore throat Pharyngeal disorder Pharyngitis - acute Sore throat - chronic acute pharyngitis acute sore throat chronic pharyn/nasopharyngitis chronic pharyngitis chronic pharyngitis and nasopharyngitis chronic sore throat disease_ontology pharyngeal disease DOID:2275 pharyngitis DOID:2275 An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever. url:http://en.wikipedia.org/wiki/Pharyngitis url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A5016 An endocrine system disease that is located_in the gonads. MESH:D006058 NCI:C26786 UMLS_CUI:C0018050 disease_ontology DOID:2277 gonadal disease DOID:2277 An endocrine system disease that is located_in the gonads. url:https://www.nature.com/subjects/gonadal-disorders disease_ontology DOID:2279 obsolete joint derangement true DOID:2279 A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation. GARD:6658 ICD10CM:L73.2 MESH:D017497 MIM:142690 MIM:613736 MIM:613737 NCI:C128429 SNOMEDCT_US_2023_03_01:201204008 UMLS_CUI:C0162836 Acne inversa, familial disease_ontology DOID:2280 OMIM mapping confirmed by DO. [SN]. hidradenitis suppurativa DOID:2280 A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402905/ A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain. ICD9CM:705.83 MESH:D016575 NCI:C112190 SNOMEDCT_US_2023_03_01:267866004 UMLS_CUI:C0085160 Hydradenitis disease_ontology DOID:2282 hidradenitis DOID:2282 A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C112190 NCI:C27012 UMLS_CUI:C0235270 disease_ontology DOID:2283 keratopathy DOID:2283 ICDO:9171/0 NCI:C27509 SNOMEDCT_US_2023_03_01:445492005 UMLS_CUI:C1333176 disease_ontology cutaneous lymphangioma DOID:2286 capillary lymphangioma DOID:2286 A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes. ICD9CM:629.9 MESH:D005831 SNOMEDCT_US_2023_03_01:38233001 UMLS_CUI:C0017411 disease_ontology DOID:229 female reproductive system disease DOID:229 A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes. url:http://en.wikipedia.org/wiki/Female_reproductive_system url:http://en.wikipedia.org/wiki/Reproductive_system_disease A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly. DOID:11348 GARD:7881 ICD10CM:A27 ICD10CM:A27.0 ICD9CM:100 ICD9CM:100.0 MESH:D007922 MESH:D014895 NCI:C84825 SNOMEDCT_US_2023_03_01:154391003 SNOMEDCT_US_2023_03_01:398067003 UMLS_CUI:C0023364 UMLS_CUI:C0043102 Fort Bragg fever Leptospirosis icterohaemorrhagica Rat Catcher's Yellows Weil's disease nanukayami fever spirochetal jaundice disease_ontology DOID:2297 leptospirosis DOID:2297 A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly. url:http://en.wikipedia.org/wiki/Leptospirosis A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. ICD10CM:G12.23 ICD9CM:335.24 MESH:D016472 MIM:611637 NCI:C129933 ORDO:35689 SNOMEDCT_US_2023_03_01:81211007 UMLS_CUI:C0154682 adult-onset primary lateral sclerosis primary lateral sclerosis disease_ontology DOID:230 Xref MGI. lateral sclerosis DOID:230 A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. url:http://en.wikipedia.org/wiki/Primary_lateral_sclerosis url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/645/viewAbstract A bone structure disease that involves a defect located_in lumbar vertebral column. ICD10CM:M43.0 MESH:D013169 NCI:C35034 SNOMEDCT_US_2023_03_01:203688008 UMLS_CUI:C0038018 disease_ontology DOID:2300 spondylolysis DOID:2300 A bone structure disease that involves a defect located_in lumbar vertebral column. url:http://en.wikipedia.org/wiki/Spondylolysis url:http://my.clevelandclinic.org/disorders/back_pain/hic_spondylolysis.aspx url:http://orthoinfo.aaos.org/topic.cfm?topic=a00053 url:http://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm ICD9CM:602.2 SNOMEDCT_US_2023_03_01:29524003 UMLS_CUI:C0156296 disease_ontology DOID:2301 atrophy of prostate DOID:2301 A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking. ICD10CM:F98.4 ICD9CM:307.3 MESH:D019956 SNOMEDCT_US_2023_03_01:5507002 UMLS_CUI:C0038273 Stereotyped repetitive movements Stereotypy habit disorder disease_ontology DOID:2303 stereotypic movement disorder DOID:2303 A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking. url:https://www.psychologytoday.com/us/conditions/stereotypic-movement-disorder A neurodegenerative disease that is located_in the motor neurons. ICD10CM:G12.2 ICD9CM:335.2 MESH:D016472 SNOMEDCT_US_2023_03_01:37340000 UMLS_CUI:C0085084 disease_ontology DOID:231 motor neuron disease DOID:231 A neurodegenerative disease that is located_in the motor neurons. url:http://en.wikipedia.org/wiki/Motor_neuron_disease An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy. GARD:7210 ICD10CM:A43 MESH:D009617 NCI:C171147 SNOMEDCT_US_2023_03_01:29227009 UMLS_CUI:C0028242 Nocardia infectious disease disease_ontology DOID:2312 nocardiosis DOID:2312 An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy. url:http://en.wikipedia.org/wiki/Nocardiosis Actinomycetales infection disease_ontology DOID:2313 obsolete primary Actinomycetales infectious disease true DOID:2313 An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley. ICD10CM:J67.4 ICD9CM:495.4 SNOMEDCT_US_2023_03_01:25897000 UMLS_CUI:C0155888 Malt workers' lung Malt-workers' lung alveolitis due to aspergillus clavatus malt worker lung disease_ontology DOID:2314 malt worker's lung DOID:2314 An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley. url:http://en.wikipedia.org/wiki/hypersensitivity_pneumonitis url:http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/five/000061759.htm An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand. MESH:D002545 SNOMEDCT_US_2023_03_01:193049009 UMLS_CUI:C0007786 Ischaemic encephalopathy Ischemic encephalopathy cerebral ischemia disease_ontology DOID:2316 brain ischemia DOID:2316 An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand. url:https://en.wikipedia.org/wiki/Brain_ischemia url:https://www.columbianeurosurgery.org/conditions/cerebral-ischemia/ A lung disease that is characterized by narrowing of pulmonary airways. MESH:D008173 UMLS_CUI:C0600260 respiratory airway obstruction disease_ontology DOID:2320 obstructive lung disease DOID:2320 A lung disease that is characterized by narrowing of pulmonary airways. url:https://lunginstitute.com/blog/the-difference-between-obstructive-and-restrictive-lung-disease/ disease_ontology DOID:2321 doid/symp duplicate - moved to Symptom Ontology obsolete dyspepsia true DOID:2321 disease_ontology DOID:2323 obsolete prostate non-neoplastic disease true DOID:2323 An Enterovirus infectious disease that results_in inflammation located_in meningeal cluster, has_material_basis_in Human enterovirus B, which is transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, and has_symptom neck pain. Coxsackie meningitis (disorder) Coxsackie viral meningitis Meningitis due to coxsackie virus disease_ontology DOID:2324 obsolete coxsackie meningitis true DOID:2324 An Enterovirus infectious disease that results_in inflammation located_in meningeal cluster, has_material_basis_in Human enterovirus B, which is transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom headache, and has_symptom neck pain. url:http://emedicine.medscape.com/article/215241-overview url:http://kidshealth.org/parent/infections/bacterial_viral/coxsackie.html# disease_ontology DOID:2325 obsolete enterovirus meningitis true DOID:2325 A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen. DOID:4094 DOID:5269 ICD10CM:K52.9 MESH:D005759 NCI:C34632 SNOMEDCT_US_2023_03_01:154278002 UMLS_CUI:C0017160 cholera morbus infectious colitis, enteritis and gastroenteritis disease_ontology DOID:2326 gastroenteritis MESH:D005759 DOID:2326 A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen. url:http://www.merck.com/mmhe/sec09/ch122/ch122a.html A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting. NCI:C27184 SNOMEDCT_US_2023_03_01:285344007 UMLS_CUI:C0563238 disease_ontology DOID:2327 viral gastritis DOID:2327 A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting. url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human astrovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom watery diarrhea, has_symptom nausea, has_symptom abdominal pain, has_symptom vomiting, and has_symptom fever. disease_ontology DOID:2328 obsolete astrovirus gastroenteritis true DOID:2328 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human astrovirus, which is transmitted_by ingestion of contaminated food. The infection has_symptom watery diarrhea, has_symptom nausea, has_symptom abdominal pain, has_symptom vomiting, and has_symptom fever. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2376536/pdf/tacca00082-0119.pdf A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain. Enteritis due to rotavirus (disorder) rotavirus enteritis disease_ontology DOID:2329 obsolete Rotavirus gastroenteritis true DOID:2329 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain. url:http://www.cdc.gov/ncidod/dvrd/revb/gastro/faq.htm url:http://www.cdc.gov/rotavirus/about_rotavirus.htm Tuberculosis of eye Tuberculosis of eye (disorder) Tuberculosis of eye NOS (disorder) Tuberculosis of eye, unspecified examination disease_ontology DOID:233 obsolete ocular tuberculosis true DOID:233 A carcinoma that is able to grow at sites distant from the primary site of origin. carcinoma, metastatic (morphologic abnormality) carcinoma, metastatic, NOS (morphologic abnormality) metastatic carcinoma disease_ontology DOID:2334 obsolete metastatic carcinoma true DOID:2334 A carcinoma that is able to grow at sites distant from the primary site of origin. url:http://en.wikipedia.org/wiki/Metastatic_carcinoma A jaw cancer and mandibular disease that affects your lower jawbone. DOID:12408 ICD10CM:C41.1 ICD9CM:170.1 MESH:D008339 NCI:C35178 SNOMEDCT_US_2023_03_01:126551000 SNOMEDCT_US_2023_03_01:448668007 UMLS_CUI:C0024694 UMLS_CUI:C0153511 malignant neoplasm of inferior maxilla malignant neoplasm of lower Jaw bone mandible cancer neoplasm of mandible disease_ontology malignant neoplasm of mandible mandibular neoplasm DOID:2338 mandibular cancer DOID:2338 A jaw cancer and mandibular disease that affects your lower jawbone. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C35178 A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. GARD:6206 ICD10CM:Q75.1 MESH:D003394 MIM:123500 NCI:C84653 SNOMEDCT_US_2023_03_01:28861008 UMLS_CUI:C0010273 Craniofacial Dysostosis disease_ontology Crouzon's disease DOID:2339 OMIM mapping confirmed by DO. [SN]. Crouzon syndrome DOID:2339 A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. url:http://en.wikipedia.org/wiki/Crouzon_syndrome url:http://ghr.nlm.nih.gov/condition/crouzon-syndrome url:https://www.faces-cranio.org/crouzon A colon carcinoma that derives_from epithelial cells of glandular origin. MESH:D003110 NCI:C4349 SNOMEDCT_US_2023_03_01:255082000 UMLS_CUI:C0338106 Colonic adenocarcinoma adenocarcinoma of colon disease_ontology adenocarcinoma of the colon DOID:234 colon adenocarcinoma DOID:234 A colon carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A synostosis that results_in premature fusion located_in skull. GARD:6209 ICD10CM:Q75.0 MESH:D003398 MIM:182212 MIM:600593 NCI:C84655 ORDO:1531 SNOMEDCT_US_2023_03_01:205414007 UMLS_CUI:C0010278 Premature closure of cranial sutures disease_ontology DOID:2340 Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. craniosynostosis DOID:2340 A synostosis that results_in premature fusion located_in skull. url:http://en.wikipedia.org/wiki/Craniosynostosis url:http://www.mayoclinic.com/health/craniosynostosis/DS00959 url:http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm url:http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm ICD10CM:D89.0 ICD9CM:273.0 NCI:C35885 SNOMEDCT_US_2023_03_01:190808009 UMLS_CUI:C0154254 disease_ontology DOID:2344 polyclonal hypergammaglobulinemia DOID:2344 An inherited metabolic disorder that involves plasma protein metabolism malfunction. ICD9CM:273.8 SNOMEDCT_US_2023_03_01:190822009 UMLS_CUI:C0029594 disease_ontology DOID:2345 plasma protein metabolism disease DOID:2345 An inherited metabolic disorder that involves plasma protein metabolism malfunction. url:http://en.wikipedia.org/wiki/Blood_protein ICD9CM:273.1 SNOMEDCT_US_2023_03_01:190812003 UMLS_CUI:C0026471 Monoclonal paraproteinaemia disease_ontology DOID:2346 monoclonal paraproteinemia DOID:2346 An atherosclerosis that is not localized. ICD10CM:I70.91 ICD9CM:440.9 NCI:C35767 SNOMEDCT_US_2023_03_01:367108003 UMLS_CUI:C0017327 Generalised atherosclerosis disease_ontology DOID:2347 generalized atherosclerosis DOID:2347 An atherosclerosis that is not localized. url:https://www.ncbi.nlm.nih.gov/books/NBK218744/ An arteriosclerosis that results in cardiovascular disease. NCI:C34403 Cardiovascular arteriosclerosis disease_ontology DOID:2348 arteriosclerotic cardiovascular disease DOID:2348 An arteriosclerosis that results in cardiovascular disease. url:https://www.ncbi.nlm.nih.gov/books/NBK218744/ An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. ICD10CM:I70 MESH:D001161 NCI:C34398 SNOMEDCT_US_2023_03_01:195251000 UMLS_CUI:C0003850 Arteriosclerotic vascular disease disease_ontology DOID:2349 arteriosclerosis DOID:2349 An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. url:http://en.wikipedia.org/wiki/Arteriosclerosis An intestinal benign neoplasm that is located_in the colon. MESH:D003110 NCI:C2953 SNOMEDCT_US_2023_03_01:126838000 UMLS_CUI:C0009375 Colonic Mass Colonic tumor colon neoplasm neoplasm of colon disease_ontology DOID:235 colonic benign neoplasm DOID:235 An intestinal benign neoplasm that is located_in the colon. url:http://en.wikipedia.org/wiki/Benign_tumor Iron overload (disorder) disease_ontology DOID:2350 obsolete iron overload true DOID:2350 ICD10CM:E83.1 ICD9CM:275.0 MESH:D019189 SNOMEDCT_US_2023_03_01:30913008 UMLS_CUI:C0012715 disorder of iron metabolism iron disorder disease_ontology DOID:2351 iron metabolism disease DOID:2351 A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. ICD10CM:E83.11 MESH:D006432 MIM:231100 MIM:PS235200 NCI:C82892 ORDO:139498 SNOMEDCT_US_2023_03_01:86781004 UMLS_CUI:C0018995 Haemochromatosis diabetes bronze iron storage disorder disease_ontology DOID:2352 Xref MGI. hemochromatosis DOID:2352 A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. url:http://en.wikipedia.org/wiki/HFE_hereditary_haemochromatosis url:http://ghr.nlm.nih.gov/condition/hemochromatosis url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/13/viewAbstract An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas. ICD10CM:D61.82 MESH:D000750 SNOMEDCT_US_2023_03_01:2694001 UMLS_CUI:C0002890 ANEMIA LEUKOERYTHROBLASTIC Anemia, leukoerythroblastic Leukoerythroblastosis disease_ontology myelophthisis DOID:2354 myelophthisic anemia DOID:2354 An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas. url:http://en.wikipedia.org/wiki/Myelophthisic_anemia A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. EFO:0004272 ICD10CM:D64.9 ICD9CM:285.9 MESH:D000740 NCI:C2869 SNOMEDCT_US_2023_03_01:64593003 UMLS_CUI:C0002871 anaemia disease_ontology DOID:2355 PRISM. anemia MESH:D000740 DOID:2355 A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. url:http://en.wikipedia.org/wiki/Anemia url:http://www.nhlbi.nih.gov/health/health-topics/topics/anemia/ An anemia that is characterized by the production of abnormally large red blood cells and mean corpuscular volume (MCV) (more than 100 fL). MESH:D000748 NCI:C34381 SNOMEDCT_US_2023_03_01:83414005 UMLS_CUI:C0002886 ANEMIA MACROCYTIC Macrocytic anaemia disease_ontology DOID:2361 macrocytic anemia DOID:2361 An anemia that is characterized by the production of abnormally large red blood cells and mean corpuscular volume (MCV) (more than 100 fL). url:https://my.clevelandclinic.org/health/diseases/23017-macrocytic-anemia A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis. DOID:12820 DOID:2363 DOID:2720 ICD10CM:I87.0 ICD9CM:459.1 MESH:D011186 SNOMEDCT_US_2023_03_01:155460004 UMLS_CUI:C0032807 Postphlebetic syndrome with inflammation Postphlebetic syndrome with ulcer Postphlebetic syndrome with ulcer and inflammation postphlebitic syndrome venous stress disorder disease_ontology DOID:2364 post-thrombotic syndrome DOID:2364 A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis. url:http://en.wikipedia.org/wiki/Post-thrombotic_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/21239797 A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus (Orthoflavivirus nilense), which is transmitted_by Culex, Aedes, or Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis. GARD:9959 ICD10CM:A92.31 ICD9CM:066.41 MESH:D014901 SNOMEDCT_US_2023_03_01:392662004 UMLS_CUI:C0751583 West Nile Fever with encephalitis West Nile fever encephalitis disease_ontology DOID:2365 West Nile encephalitis DOID:2365 A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus (Orthoflavivirus nilense), which is transmitted_by Culex, Aedes, or Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis. url:https://pmc.ncbi.nlm.nih.gov/articles/PMC1125772/ url:https://www.cdc.gov/west-nile-virus/hcp/clinical-signs/ A viral infectious disease that results_in infection, has_material_basis_in West Nile virus (Orthoflavivirus nilense), which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting. ICD10CM:A92.3 ICD9CM:066.4 MESH:D014901 SNOMEDCT_US_2023_03_01:12381007 UMLS_CUI:C0043124 disease_ontology DOID:2366 West Nile fever DOID:2366 A viral infectious disease that results_in infection, has_material_basis_in West Nile virus (Orthoflavivirus nilense), which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting. url:http://www.cfsph.iastate.edu/FastFacts/pdfs/west_nile_fever_F.pdf url:https://en.wikipedia.org/wiki/West_Nile_fever url:https://www.cdc.gov/west-nile-virus/about/ MESH:D019150 NCI:C161542 SNOMEDCT_US_2023_03_01:230365004 UMLS_CUI:C0338473 disease_ontology DOID:2367 neuroaxonal dystrophy DOID:2367 A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides. GARD:12510 ICD10CM:E75.10 MESH:D005733 ORDO:309144 SNOMEDCT_US_2023_03_01:50967008 UMLS_CUI:C0017083 disease_ontology DOID:2368 gangliosidosis DOID:2368 A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides. url:https://en.wikipedia.org/wiki/Gangliosidosis Diabetes mellitus juvenile type, not stated as uncontrolled, with renal manifestations Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with renal manifestations disease_ontology DOID:2369 obsolete diabetes mellitus insulin dependent type not stated as uncontrolled with renal manifestations true DOID:2369 adhesions and disruptions of iris and ciliary body (disorder) adhesions and disruptions of iris and ciliary body NOS (disorder) disease_ontology DOID:237 obsolete adhesions and disruptions of iris and ciliary body true DOID:237 disease_ontology DOID:2370 obsolete diabetic nephropathy true DOID:2370 A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present. GARD:6621 ICD10CM:D58.1 ICD9CM:282.1 MESH:D004612 MIM:130600 MIM:611804 NCI:C35882 ORDO:288 SNOMEDCT_US_2023_03_01:154801000 UMLS_CUI:C0013902 Congenital elliptocytosis ovalocytosis disease_ontology DOID:2373 Xref MGI. OMIM mapping confirmed by DO. [SN]. hereditary elliptocytosis DOID:2373 A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present. url:http://en.wikipedia.org/wiki/Hereditary_elliptocytosis url:http://www.merckmanuals.com/professional/hematology_and_oncology/anemias_caused_by_hemolysis/hereditary_spherocytosis_and_hereditary_elliptocytosis.html url:https://research.nhgri.nih.gov/RBCmembrane/ chronic progressive multiple sclerosis (disorder) disease_ontology DOID:2376 This term is being deleted, as it is a deprecated term, no longer used in clinical practice. [LS] obsolete chronic progressive multiple sclerosis true DOID:2376 A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. GARD:10255 ICD10CM:G35 ICD9CM:340 MESH:D009103 MIM:612594 MIM:612595 MIM:612596 NCI:C3243 SNOMEDCT_US_2023_03_01:155023009 UMLS_CUI:C0026769 Generalized multiple sclerosis insular sclerosis disease_ontology DOID:2377 OMIM mapping confirmed by DO. [LS]. multiple sclerosis MESH:D009103 DOID:2377 A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. url:http://en.wikipedia.org/wiki/Multiple_sclerosis url:https://ghr.nlm.nih.gov/condition/multiple-sclerosis A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles. EFO:0003929 MESH:D020529 NCI:C165675 SNOMEDCT_US_2023_03_01:426373005 UMLS_CUI:C0751967 RRMS Relapsing-remitting MS disease_ontology DOID:2378 relapsing-remitting multiple sclerosis DOID:2378 A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles. url:http://www.mayoclinic.org/multiple-sclerosis/types.html RRMS MESH:D011681 SNOMEDCT_US_2023_03_01:68633000 UMLS_CUI:C0034124 Pupillary disorder disease_ontology DOID:238 pupil disease DOID:238 A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor. DOID:0050005 Cholera due to Vibrio cholerae El Tor (disorder) Cholera due to Vibrio cholerae el tor Vibrio cholerae 01 biovar cholerae cholera Vibrio cholerae O1 biovar eltor cholera Vibrio cholerae biovar El Tor cholera Vibrio cholerae el tor cholera cholera due to Vibrio cholerae 01 biovar cholerae disease_ontology Cholera due to Vibrio cholerae 01, biovar el tor DOID:2381 obsolete Vibrio cholerae O1 biovar El Tor cholera true DOID:2381 A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor. url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html#agent A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction. GARD:6830 ICD10CM:P57 MESH:D007647 NCI:C84799 SNOMEDCT_US_2023_03_01:157135006 UMLS_CUI:C0022610 bilirubin encephalopathy disease_ontology DOID:2382 kernicterus DOID:2382 A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction. url:https://en.wikipedia.org/wiki/Kernicterus url:https://www.nlm.nih.gov/medlineplus/ency/article/007309.htm A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant. ICD10CM:P59.9 MESH:D007567 NCI:C99246 SNOMEDCT_US_2023_03_01:299968002 UMLS_CUI:C0022353 neonatal hyperbilirubinemia neonatal icterus disease_ontology DOID:2383 neonatal jaundice DOID:2383 A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant. url:http://en.wikipedia.org/wiki/Neonatal_jaundice url:http://www.nlm.nih.gov/medlineplus/ency/article/001559.htm A brain disease that is characterized by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1). ICD10CM:E51.2 MESH:D014899 SNOMEDCT_US_2023_03_01:190627001 UMLS_CUI:C0043121 Wernicke's disease Wernicke's encephalopathy disease_ontology DOID:2384 Wernicke encephalopathy DOID:2384 A brain disease that is characterized by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1). url:https://en.wikipedia.org/wiki/Wernicke%27s_encephalopathy Thiamin deficiency (disorder) Thiamine deficiency Thiamine deficiency, unspecified Thiamine deficiency, unspecified (disorder) thiamine deficiency vitamin B1 deficiency disease_ontology DOID:2385 obsolete thiamine deficiency true DOID:2385 ICD9CM:593.81 NCI:C35338 SNOMEDCT_US_2023_03_01:16934004 UMLS_CUI:C0268790 renal vascular disease vascular disorder of kidney disease_ontology DOID:2388 renal artery disease DOID:2388 Fibromuscular dysplasia (morphologic abnormality) Fibromuscular hyperplasia of arteries NOS (disorder) Fibromuscular hyperplasia of artery Fibromuscular hyperplasia of artery (disorder) Fibromuscular hyperplasia of artery [Ambiguous] disease_ontology DOID:2389 obsolete fibromuscular dysplasia true DOID:2389 coredialysis disease_ontology DOID:239 obsolete iridodialysis true DOID:239 NCI:C39860 SNOMEDCT_US_2023_03_01:72815004 UMLS_CUI:C0268837 disease_ontology cystitis glandularis DOID:2392 glandular cystitis DOID:2392 A female reproductive organ cancer that is located_in the ovary. DOID:0060070 DOID:2144 DOID:9595 GARD:7295 ICD10CM:C56 ICD9CM:183.0 MESH:D010051 MIM:167000 MIM:607893 NCI:C4984 NCI:C7431 ORDO:213500 ORDO:213517 SNOMEDCT_US_2023_03_01:123843001 SNOMEDCT_US_2023_03_01:372117006 SNOMEDCT_US_2023_03_01:93934004 UMLS_CUI:C0919267 UMLS_CUI:C1140680 UMLS_CUI:C1299247 malignant Ovarian tumor malignant tumour of ovary ovarian neoplasm ovary neoplasm primary ovarian cancer tumor of the Ovary disease_ontology DOID:2394 Xref MGI. OMIM mapping confirmed by DO. [SN]. ovarian cancer DOID:2394 A female reproductive organ cancer that is located_in the ovary. url:http://www.cancer.gov/dictionary?CdrID=445074 Clear cell tumor of ovary (disorder) disease_ontology DOID:2399 obsolete ovarian clear cell neoplasm true DOID:2399 MESH:D007499 NCI:C34737 SNOMEDCT_US_2023_03_01:85478004 UMLS_CUI:C0022078 disease_ontology DOID:240 iris disease DOID:240 A vulva cancer that is located_in the clitoris. DOID:2400 ICD10CM:C51.2 ICD9CM:184.3 NCI:C3557 NCI:C9362 SNOMEDCT_US_2023_03_01:93758009 UMLS_CUI:C0153589 UMLS_CUI:C1333070 Clitoral Ca carcinoma of Clitoris clitoral cancer malignant neoplasm of clitoris malignant tumor of Clitoris disease_ontology DOID:2401 clitoris cancer DOID:2401 A vulva cancer that is located_in the clitoris. url:https://scialert.net/fulltext/?doi=ijcr.2008.110.126 Lymphangiectases (disorder) Lymphangiectasis (morphologic abnormality) disease_ontology DOID:2402 obsolete lymphangiectasis true DOID:2402 A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed. ICD10CM:B48.1 ICD9CM:117.0 MESH:D012227 SNOMEDCT_US_2023_03_01:18140003 UMLS_CUI:C0035469 Infection by Rhinosporidium seeberi disease_ontology DOID:2409 rhinosporidiosis DOID:2409 A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed. url:https://www.sciencedirect.com/science/article/abs/pii/S2213219817305093?via%3Dihub NCI:C5617 SNOMEDCT_US_2023_03_01:254763007 UMLS_CUI:C0346060 granular cell neoplasm of the skin granular cell tumor of skin granular cell tumour of skin skin granular cell tumour disease_ontology DOID:2410 skin granular cell tumor DOID:2410 GARD:9618 ICDO:9580/0 MESH:D016586 NCI:C3474 SNOMEDCT_US_2023_03_01:12169001 UMLS_CUI:C0085167 neoplasm of granular cell disease_ontology DOID:2411 granular cell tumor DOID:2411 neural tumor of the skin skin tumor of neural origin (disorder) disease_ontology DOID:2412 obsolete skin tumor of neural origin true DOID:2412 Pigmented spindle cell naevus of Reed Spitz (spindle cell) nevus epithelioid and spindle cell nevus (disorder) disease_ontology DOID:2413 obsolete epithelioid and spindle cell nevus true DOID:2413 DOID:191 DOID:2418 DOID:5901 Magnocellular nevus Magnocellular nevus (morphologic abnormality) Naevus - benign benign melanocytic naevus benign melanocytic naevus of skin benign melanocytic nevus benign melanoma benign nevus of skin cutaneous melanocytic neoplasm melanocytic neoplasm melanocytic neoplasm (disorder) melanocytic neoplasm of skin melanocytic tumor of skin (disorder) melanocytoma disease_ontology DOID:2415 obsolete benign skin melanocytic nevus true DOID:2415 Sutton's naevus disease_ontology DOID:2417 obsolete melanocytic nevus true DOID:2417 Cutaneous fibrous tissue neoplasm fibrous tissue tumor of skin (disorder) disease_ontology DOID:2421 obsolete skin fibrous tissue neoplasm true DOID:2421 HALO NEVI HN Halo nevus (disorder) Halo nevus (morphologic abnormality) disease_ontology DOID:2423 OMIM mapping confirmed by DO. [SN]. obsolete halo nevus true DOID:2423 Dermal cellular nevus (disorder) Dermal nevus Intradermal nevus (morphologic abnormality) disease_ontology DOID:2424 obsolete intradermal nevus true DOID:2424 NCI:C4481 SNOMEDCT_US_2023_03_01:254766004 UMLS_CUI:C0346063 Ganglioneuroma of skin disease_ontology DOID:2425 cutaneous ganglioneuroma DOID:2425 A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells. GARD:10638 ICDO:9492/0 MESH:D005729 NCI:C6934 SNOMEDCT_US_2021_09_01:128919000 gangliocytoma of central nervous system disease_ontology DOID:2426 gangliocytoma DOID:2426 A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells. url:https://link.springer.com/chapter/10.1007/978-1-4419-1062-2_18 url:https://radiopaedia.org/articles/gangliocytoma url:https://rarediseases.info.nih.gov/diseases/10638/gangliocytoma NCI:C4491 SNOMEDCT_US_2023_03_01:254795008 UMLS_CUI:C0346083 Glomus skin neoplasm Glomus tumor of skin Glomus tumour of skin skin glomus tumour disease_ontology DOID:2430 skin glomus tumor DOID:2430 A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body. ICDO:8711/0 MESH:D005918 NCI:C3060 SNOMEDCT_US_2023_03_01:189193002 UMLS_CUI:C0017653 Glomus neoplasm Glomus tumour disease_ontology DOID:2431 glomus tumor DOID:2431 A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body. url:https://en.wikipedia.org/wiki/Glomus_tumor NCI:C4463 SNOMEDCT_US_2023_03_01:126489007 UMLS_CUI:C0345988 neoplasm of skin with adnexal differentiation neoplasm of the skin Appendage skin appendage tumour disease_ontology DOID:2433 epidermal appendage tumor DOID:2433 Junctional melanocytic nevus of skin (disorder) Junctional nevus (morphologic abnormality) Junctional nevus of the skin disease_ontology DOID:2434 obsolete intraepidermal nevus true DOID:2434 NCI:C6750 SNOMEDCT_US_2023_03_01:403970001 UMLS_CUI:C1275226 Cutaneous Glomangioma Glomangioma of skin disease_ontology DOID:2435 skin glomangioma DOID:2435 A benign perivascular tumor that is a morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions. ICDO:8712/0 MESH:D005918 MIM:138000 NCI:C4222 ORDO:83454 SNOMEDCT_US_2023_03_01:7429002 UMLS_CUI:C0334421 Glomuvenous Malformation disease_ontology DOID:2436 glomangioma DOID:2436 A benign perivascular tumor that is a morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions. url:https://pubmed.ncbi.nlm.nih.gov/21163162/ Compound nevus (morphologic abnormality) Compound nevus of skin (disorder) compound nevus disease_ontology DOID:2437 obsolete skin compound nevus true DOID:2437 NCI:C4475 SNOMEDCT_US_2023_03_01:254735005 UMLS_CUI:C0346041 dermis tumour neoplasm of Dermis tumor of dermis tumour of dermis disease_ontology DOID:2438 dermis tumor DOID:2438 A squamous cell carcinoma that is located_in the frontal sinus. NCI:C6067 SNOMEDCT_US_2023_03_01:1260048003 UMLS_CUI:C1333646 Epidermoid carcinoma of the Frontal sinus disease_ontology DOID:2441 frontal sinus squamous cell carcinoma DOID:2441 A squamous cell carcinoma that is located_in the frontal sinus. url:https://www.ncbi.nlm.nih.gov/pubmed/22169549 MESH:D006964 SNOMEDCT_US_2023_03_01:10649000 UMLS_CUI:C0020506 disease_ontology DOID:2444 hyperpituitarism MESH:D006964 DOID:2444 Anterior pituitary hyperfunction Pituitary gigantism disease_ontology DOID:2446 obsolete gigantism true DOID:2446 A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb. GARD:5725 MESH:D000172 NCI:C84533 SNOMEDCT_US_2023_03_01:154698000 UMLS_CUI:C0001206 disease_ontology DOID:2449 acromegaly DOID:2449 A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb. url:http://en.wikipedia.org/wiki/Acromegaly url:http://www.mayoclinic.com/health/acromegaly/DS00478 url:http://www.nlm.nih.gov/medlineplus/ency/article/000321.htm ICD10CM:H34.81 ICD9CM:362.35 MESH:D012170 NCI:C118859 SNOMEDCT_US_2023_03_01:193378003 UMLS_CUI:C0154841 disease_ontology DOID:2450 central retinal vein occlusion DOID:2450 A thrombophilia that is characterized by increased risk of developing abnormal blood clots. GARD:4524 ICD10CM:D68.59 MESH:D018455 NCI:C99026 SNOMEDCT_US_2023_03_01:1563006 UMLS_CUI:C0242666 Protein S deficiency disease disease_ontology DOID:2451 protein S deficiency DOID:2451 A thrombophilia that is characterized by increased risk of developing abnormal blood clots. url:https://medlineplus.gov/genetics/condition/protein-s-deficiency/ A blood coagulation disease that is characterized by an increased tendency to form clots. ICD10CM:D68.59 MESH:D019851 MIM:PS188050 NCI:C84479 SNOMEDCT_US_2023_03_01:191302007 UMLS_CUI:C0398623 hypercoagulability state disease_ontology DOID:2452 OMIM mapping confirmed by DO. [LS]. thrombophilia MESH:D019851 DOID:2452 A blood coagulation disease that is characterized by an increased tendency to form clots. url:https://en.wikipedia.org/wiki/Thrombophilia url:https://www.nhs.uk/conditions/thrombophilia/ A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area. ICD10CM:H10.52 ICD9CM:372.21 SNOMEDCT_US_2023_03_01:193871000 UMLS_CUI:C0155149 disease_ontology DOID:2455 angular blepharoconjunctivitis DOID:2455 A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area. url:https://www.ncbi.nlm.nih.gov/books/NBK558902/ A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis. ICD10CM:H10.5 ICD9CM:372.2 NCI:C34430 SNOMEDCT_US_2023_03_01:155164001 UMLS_CUI:C0005743 disease_ontology DOID:2456 blepharoconjunctivitis DOID:2456 A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis. url:http://en.wikipedia.org/wiki/Conjunctivitis GARD:8445 MESH:D003233 NCI:C34507 SNOMEDCT_US_2023_03_01:231857004 UMLS_CUI:C0009769 disease_ontology DOID:2457 giant papillary conjunctivitis DOID:2457 NCI:C35616 SNOMEDCT_US_2023_03_01:416878008 UMLS_CUI:C0854165 disease_ontology DOID:2458 papillary conjunctivitis DOID:2458 ICD10CM:H27.12 ICD9CM:379.33 SNOMEDCT_US_2023_03_01:194160006 UMLS_CUI:C0155372 disease_ontology DOID:2460 anterior dislocation of lens DOID:2460 NCI:C35170 SNOMEDCT_US_2023_03_01:57534004 UMLS_CUI:C0154833 retina circulation disorder disease_ontology DOID:2462 retinal vascular disease DOID:2462 Psychogenic confusion Psychogenic twilight state disease_ontology DOID:2467 obsolete reactive confusion true DOID:2467 A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. EFO:0000677 ICD9CM:298.8 UMLS_CUI:C0029516 mental or behavioural disorder disease_ontology DOID:2468 psychotic disorder DOID:2468 A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. url:http://www.nlm.nih.gov/medlineplus/psychoticdisorders.html Erysipelas in swine disease_ontology DOID:2469 obsolete swine erysipelas true DOID:2469 Erysipeloid (disorder) Erysipelothrix disease (disorder) Seal finger (disorder) disease_ontology DOID:2470 obsolete Erysipelothrix infectious disease true DOID:2470 Infection due to E. rhusiopathiae Infection due to Erysipelothrix rhusiopathiae disease_ontology DOID:2471 obsolete Erysipelothrix rhusiopathiae infectious disease true DOID:2471 A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices. DOID:0050137 ICD9CM:118 SNOMEDCT_US_2023_03_01:78999002 UMLS_CUI:C0029119 Opportunistic mycoses opportunistic systemic mycoses disease_ontology DOID:2473 opportunistic mycosis DOID:2473 A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices. url:http://www.mycology.adelaide.edu.au/Mycoses/ url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006 GARD:7854 ICD10CM:H10.44 ICD9CM:372.13 MESH:D003233 NCI:C34508 SNOMEDCT_US_2023_03_01:193867003 UMLS_CUI:C0009773 disease_ontology DOID:2474 vernal conjunctivitis DOID:2474 ICD10CM:H10.4 ICD9CM:372.1 NCI:C35197 SNOMEDCT_US_2023_03_01:155163007 UMLS_CUI:C0155145 disease_ontology DOID:2475 chronic conjunctivitis DOID:2475 A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. GARD:6637 ICD10CM:G11.4 ICD9CM:334.1 MESH:D015419 MIM:PS303350 NCI:C140267 SNOMEDCT_US_2023_03_01:267692008 UMLS_CUI:C0037773 French settlement disease Strumpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis disease_ontology DOID:2476 Xref MGI. hereditary spastic paraplegia DOID:2476 A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. url:http://en.wikipedia.org/wiki/Familial_spastic_paraplegia A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves. ICD10CM:G60.0 MESH:D015417 NCI:C75467 SNOMEDCT_US_2023_03_01:128202008 UMLS_CUI:C0027888 HSMN HSMN - Hereditary sensory and motor neuropathy Hereditary motor and sensory neuropathy Peripheral Motor Neuropathy neuropathic muscular atrophy disease_ontology DOID:2477 motor peripheral neuropathy DOID:2477 A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves. url:https://www.ninds.nih.gov/health-information/disorders/peripheral-neuropathy HSMN A brain disease that is characterized by vertigo caused by hemorrhagic insult, ischemic insult or mass lesion of the cerebellum, the vestibular nuclei, and the brainstem, has_symptom dizziness, has_symptom nausea, has_symptom vomiting and has_symptom difficulty walking. ICD10CM:H81.4 ICD9CM:386.2 MESH:D014717 SNOMEDCT_US_2023_03_01:20425006 UMLS_CUI:C0155503 Vertigo of central origin central vestibular vertigo disease_ontology DOID:2479 central nervous system origin vertigo DOID:2479 A brain disease that is characterized by vertigo caused by hemorrhagic insult, ischemic insult or mass lesion of the cerebellum, the vestibular nuclei, and the brainstem, has_symptom dizziness, has_symptom nausea, has_symptom vomiting and has_symptom difficulty walking. url:https://www.ncbi.nlm.nih.gov/pubmed/26643594 A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea. DOID:246 MESH:D014134 NCI:C3419 NCI:C6049 SNOMEDCT_US_2023_03_01:126703006 UMLS_CUI:C0040582 UMLS_CUI:C1336772 leiomyoma of the Trachea disease_ontology DOID:248 trachea leiomyoma DOID:248 A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea. url:https://www.ncbi.nlm.nih.gov/pubmed/26026331 disease_ontology DOID:2481 obsolete infantile epileptic encephalopathy true DOID:2481 ICD9CM:275.3 MESH:D010760 NCI:C97095 SNOMEDCT_US_2023_03_01:190858002 UMLS_CUI:C0031707 Phosphorus disorder disorder of phosphorus metabolism phosphorus metabolism disorder disease_ontology DOID:2485 phosphorus metabolism disease DOID:2485 hypercholesteremia disease_ontology hypercholesterolaemia DOID:2487 obsolete hypercholesterolemia true DOID:2487 ICD9CM:742 SNOMEDCT_US_2023_03_01:204018008 UMLS_CUI:C0158538 congenital neurologic anomaly disease_ontology DOID:2490 congenital nervous system abnormality DOID:2490 A neuropathy that involves damage to nerves of the peripheral nervous system. DOID:10596 ICD9CM:356.2 MESH:D009477 NCI:C3501 SNOMEDCT_US_2023_03_01:193163001 SNOMEDCT_US_2023_03_01:95662005 UMLS_CUI:C0151313 UMLS_CUI:C0699739 peripheral Sensory Neuropathy sensory neuropathy disease_ontology DOID:2491 sensory peripheral neuropathy DOID:2491 A neuropathy that involves damage to nerves of the peripheral nervous system. url:https://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061 ls:IEDB Hereditary peripheral neuropathy (disorder) Hereditary peripheral neuropathy NOS (disorder) disease_ontology DOID:2492 obsolete hereditary peripheral neuropathy true DOID:2492 MESH:D020252 NCI:C84724 SNOMEDCT_US_2023_03_01:412795008 UMLS_CUI:C0267211 Watermelon stomach disease_ontology DOID:2493 gastric antral vascular ectasia DOID:2493 A vascular disease that is characterized as a small vascular malformation of the gut. DOID:12071 MESH:D016888 SNOMEDCT_US_2023_03_01:71072006 UMLS_CUI:C0085411 angiodysplasia of stomach and duodenum with hemorrhage disease_ontology DOID:2494 angiodysplasia MESH:D016888 DOID:2494 A vascular disease that is characterized as a small vascular malformation of the gut. url:http://en.wikipedia.org/wiki/Angiodysplasia NCI:C4390 SNOMEDCT_US_2023_03_01:5050001 UMLS_CUI:C0343082 Senile hemangioma Senile naevus of skin disease_ontology DOID:2495 senile angioma DOID:2495 ICD9CM:521.31 SNOMEDCT_US_2023_03_01:234977009 UMLS_CUI:C0399400 disease_ontology DOID:2497 enamel erosion DOID:2497 DOID:11509 DOID:12687 ICD10CM:K03.2 ICD9CM:521.3 MESH:D014077 SNOMEDCT_US_2023_03_01:82212003 UMLS_CUI:C0040436 generalized erosion localized erosion disease_ontology DOID:2498 tooth erosion DOID:2498 chronic Encephalopathy chronic brain damage chronic brain syndrome (disorder) disease_ontology DOID:250 obsolete chronic brain damage true DOID:250 A vulvovaginal candidiasis that involves fungal infection of the vaginal mucous membranes by Candida albicans in AIDS patients. disease_ontology DOID:2503 obsolete AIDS-related vulvovaginal candidiasis true DOID:2503 A vulvovaginal candidiasis that involves fungal infection of the vaginal mucous membranes by Candida albicans in AIDS patients. url:http://en.wikipedia.org/wiki/Vulvovaginal_candidiasis A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body. DOID:13377 GARD:7730 ICD10CM:M31.4 ICD9CM:446.7 MESH:D001015 MESH:D013625 MIM:207600 NCI:C34391 NCI:C35062 SNOMEDCT_US_2023_03_01:359789008 SNOMEDCT_US_2023_03_01:42153001 UMLS_CUI:C0003490 UMLS_CUI:C0039263 Aortic arch arteritis Idiopathic aortitis Takayasu arteritis Takayasu's disease aortic arch syndrome disease_ontology DOID:2508 OMIM mapping confirmed by DO. [SN]. Takayasu's arteritis DOID:2508 A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body. url:http://www.nlm.nih.gov/medlineplus/ency/article/001250.htm ICD9CM:291.89 UMLS_CUI:C1456283 disease_ontology DOID:251 alcohol-induced mental disorder DOID:251 An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior. MESH:D020232 NCI:C84802 SNOMEDCT_US_2023_03_01:10651001 UMLS_CUI:C0270707 Klver-Bucy syndrome disease_ontology DOID:2510 Kluver-Bucy syndrome DOID:2510 An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior. url:http://en.wikipedia.org/wiki/Kl%C3%BCver%E2%80%93Bucy_syndrome url:http://www.ninds.nih.gov/disorders/kluver_bucy/kluver_bucy.htm A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities. GARD:7166 MEDDRA:10062804 MESH:D001478 MIM:PS109400 NCI:C2892 ORDO:377 SNOMEDCT_US_2023_03_01:69408002 UMLS_CUI:C0004779 Gorlin syndrome NBCCS basal cell nevus syndrome disease_ontology DOID:2512 OMIM mapping confirmed by DO. [SN]. nevoid basal cell carcinoma syndrome DOID:2512 A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities. url:https://medlineplus.gov/genetics/condition/gorlin-syndrome/ url:https://pubmed.ncbi.nlm.nih.gov/11932998/ NBCCS A skin carcinoma affecting basal cells. DOID:4275 DOID:4276 EFO:0004193 ICDO:8090/3 KEGG:05217 MESH:D018295 NCI:C156767 NCI:C3784 NCI:C7586 SNOMEDCT_US_2023_03_01:127570002 SNOMEDCT_US_2023_03_01:154507009 SNOMEDCT_US_2023_03_01:252995000 UMLS_CUI:C0007117 UMLS_CUI:C0206710 UMLS_CUI:C1368295 Basal cell cancer Basal cell carcinoma of skin Basal cell neoplasm Basal cell tumor Epithelioma basal cell Rodent ulcer malignant Basal cell neoplasm malignant basal cell tumor disease_ontology DOID:2513 Xref MGI. basal cell carcinoma DOID:2513 A skin carcinoma affecting basal cells. url:http://en.wikipedia.org/wiki/Basal-cell_carcinoma Meningococcal optic neuritis (disorder) disease_ontology DOID:2514 obsolete meningococcal optic neuritis true DOID:2514 disease_ontology DOID:2515 obsolete meningococcal infectious disease true DOID:2515 NCI:C5432 SNOMEDCT_US_2023_03_01:445513004 UMLS_CUI:C1334237 intracranial Cavernoma disease_ontology DOID:2516 intracranial cavernous angioma DOID:2516 ICD10CM:D18.02 ICD9CM:228.02 NCI:C3633 SNOMEDCT_US_2023_03_01:93468003 UMLS_CUI:C0154050 Angioma of intracranial Structure hemangioma of intracranial structure hemangioma of intracranial structures disease_ontology DOID:2517 intracranial structure hemangioma DOID:2517 ICD10CM:N45.2 MESH:D009920 NCI:C97145 SNOMEDCT_US_2023_03_01:367112009 UMLS_CUI:C0029191 Inflammation of testis Orchititis disease_ontology DOID:2518 orchitis DOID:2518 MESH:D013733 NCI:C26890 SNOMEDCT_US_2023_03_01:236763001 UMLS_CUI:C0039584 disorder of testis testis disorder disease_ontology DOID:2519 testicular disease DOID:2519 An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal. ICD9CM:291.9 MESH:D011604 SNOMEDCT_US_2023_03_01:154852003 UMLS_CUI:C0033936 Alcoholic psychoses disease_ontology DOID:252 alcoholic psychosis DOID:252 An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal. url:https://www.ncbi.nlm.nih.gov/books/NBK459134/ url:https://www.ncbi.nlm.nih.gov/pubmed/22611692 DOID:2523 DOID:2813 DOID:2865 abnormal glucose tolerance of mother with delivery antepartum abnormal glucose tolerance of mother postpartum abnormal glucose tolerance of mother disease_ontology DOID:2524 obsolete abnormal glucose tolerance in mother complicating pregnancy childbirth and/or puerperium true DOID:2524 A prostate carcinoma that derives_from epithelial cells of glandular origin. NCI:C2919 SNOMEDCT_US_2023_03_01:399490008 UMLS_CUI:C0007112 disease_ontology DOID:2526 prostate adenocarcinoma DOID:2526 A prostate carcinoma that derives_from epithelial cells of glandular origin. url:http://cancergenome.nih.gov/cancersselected/prostatecancer url:http://en.wikipedia.org/wiki/Adenocarcinoma url:http://en.wikipedia.org/wiki/Prostate_cancer A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation. MESH:D009401 SNOMEDCT_US_2023_03_01:90708001 UMLS_CUI:C0027720 disease_ontology DOID:2527 nephrosis DOID:2527 A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation. url:https://en.wikipedia.org/wiki/Nephrosis A myeloma and spenic disease that is located_in the bone marrow that results_in the marrow being replaced by fibrous (scar) tissue and has_symptom abdominal fullness related to an enlarged spleen, has_symptom bone pain, has_symptom bruising, has_symptom easy bleeding, has_symptom fatigue, has_symptom increased susceptibility to infection, has_symptom pallor, has_symtom shortness of breath while doing physical work. Myeloid metaplasia (morphologic abnormality) disease_ontology DOID:2528 obsolete myeloid metaplasia true DOID:2528 A myeloma and spenic disease that is located_in the bone marrow that results_in the marrow being replaced by fibrous (scar) tissue and has_symptom abdominal fullness related to an enlarged spleen, has_symptom bone pain, has_symptom bruising, has_symptom easy bleeding, has_symptom fatigue, has_symptom increased susceptibility to infection, has_symptom pallor, has_symtom shortness of breath while doing physical work. url:https://health.google.com/health/ref/Primary+myelofibrosis DOID:0000815 ICD10CM:D73 ICD9CM:289.50 MESH:D013158 NCI:C35823 SNOMEDCT_US_2023_03_01:51244008 UMLS_CUI:C0037997 Dyssplenism Spleen disease disease_ontology DOID:2529 splenic disease DOID:2529 ICD10CM:D73.3 NCI:C35347 SNOMEDCT_US_2023_03_01:82053000 UMLS_CUI:C0272412 disease_ontology DOID:2530 splenic abscess DOID:2530 An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. DOID:1034 DOID:2532 MESH:D019337 NCI:C27134 SNOMEDCT_US_2023_03_01:414388001 UMLS_CUI:C0376544 Hematologic malignancy Hematologic neoplasm Hematological tumors blood cancer hematopoietic and lymphoid system tumor hematopoietic cancer hematopoietic neoplasm hematopoietic tumors malignant hematopoietic neoplasm disease_ontology DOID:2531 hematologic cancer DOID:2531 An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. url:http://en.wikipedia.org/wiki/Blood_cancer url:http://www.cancer.gov/dictionary/?CdrID=45708 GARD:9973 ICD10CM:D73.5 MESH:D013159 SNOMEDCT_US_2023_03_01:22996003 UMLS_CUI:C0037998 Splenic infarct disease_ontology DOID:2533 splenic infarction DOID:2533 ICD10CM:G61.81 ICD9CM:357.81 MESH:D020277 NCI:C84636 SNOMEDCT_US_2023_03_01:128209004 UMLS_CUI:C0393819 disease_ontology DOID:2536 chronic inflammatory demyelinating polyneuritis DOID:2536 A neuropathy that is caused by drug ingestion, drug or chemical abuse, or industrial chemical exposure from the workplace or the environment. ICD9CM:357 SNOMEDCT_US_2023_03_01:193172009 UMLS_CUI:C0154758 disease_ontology DOID:2537 inflammatory and toxic neuropathy DOID:2537 A neuropathy that is caused by drug ingestion, drug or chemical abuse, or industrial chemical exposure from the workplace or the environment. url:https://pubmed.ncbi.nlm.nih.gov/21897232/ A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients. GARD:6855 ICD10CM:G40.8 MESH:D018887 MIM:245570 NCI:C84806 ORDO:98818 SNOMEDCT_US_2023_03_01:230438007 UMLS_CUI:C0282512 acquired epileptic aphasia disease_ontology DOID:2538 OMIM mapping confirmed by DO. [SN]. Landau-Kleffner syndrome DOID:2538 A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients. url:https://rarediseases.org/rare-diseases/landau-kleffner-syndrome/ ICD10CM:D18.03 ICD9CM:228.04 NCI:C3635 SNOMEDCT_US_2023_03_01:93467008 UMLS_CUI:C0154052 hemangioma of intra-abdominal structures hemangioma, Intra-abdominal disease_ontology DOID:254 hemangioma of intra-abdominal structure DOID:254 An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe. NCI:C7760 SNOMEDCT_US_2023_03_01:111498005 UMLS_CUI:C0270849 disease_ontology DOID:2544 extratemporal epilepsy DOID:2544 An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe. url:http://www.webmd.com/epilepsy/extratemporal-cortical-resection disease_ontology DOID:2545 obsolete congenital epilepsy true DOID:2545 Atonic epilepsy Epileptic seizures - atonic (finding) disease_ontology DOID:2546 obsolete atonic epilepsy true DOID:2546 disease_ontology DOID:2547 obsolete intractable epilepsy true DOID:2547 A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity. MESH:D020195 NCI:C85041 SNOMEDCT_US_2023_03_01:79745005 UMLS_CUI:C0270857 epilepsy, sensory-induced disease_ontology DOID:2548 reflex epilepsy DOID:2548 A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5779309/ disease_ontology DOID:2549 obsolete aggravated epilepsy true DOID:2549 A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood. ICD10CM:D18.0 ICD9CM:228.00 ICDO:9120/0 MESH:D006391 NCI:C3085 SNOMEDCT_US_2023_03_01:154625006 UMLS_CUI:C0018916 disease_ontology DOID:255 hemangioma DOID:255 A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood. url:http://en.wikipedia.org/wiki/Hemangioma NCI:C4687 SNOMEDCT_US_2023_03_01:230449001 UMLS_CUI:C0393724 disease_ontology DOID:2550 tactile epilepsy DOID:2550 disease_ontology DOID:2551 obsolete anosognostic epilepsy true DOID:2551 MESH:D020293 NCI:C34653 SNOMEDCT_US_2023_03_01:1260127003 UMLS_CUI:C0018202 disease_ontology DOID:2555 granulomatous angiitis DOID:2555 A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body. GARD:7417 ICD10CM:M94.1 MESH:D011081 NCI:C157268 SNOMEDCT_US_2023_03_01:72275000 UMLS_CUI:C0032453 Chondromalacia, systemic disease_ontology DOID:2556 relapsing polychondritis DOID:2556 A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body. url:https://pubmed.ncbi.nlm.nih.gov/26711694/ url:https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis A cartilage disease that is characterized by softening and breakdown of cartilage inside a joint. ICD10CM:M94.2 ICD9CM:733.92 MESH:D002357 SNOMEDCT_US_2023_03_01:63198006 UMLS_CUI:C0085700 disease_ontology DOID:2557 chondromalacia DOID:2557 A cartilage disease that is characterized by softening and breakdown of cartilage inside a joint. url:https://www.health.harvard.edu/a_to_z/chondromalacia-a-to-z A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance. ICD10CM:F11.2 ICD9CM:304.00 MESH:D009293 SNOMEDCT_US_2023_03_01:75544000 UMLS_CUI:C0524662 Opioid type dependence disease_ontology DOID:2559 opiate dependence DOID:2559 A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Opiate_dependency NCI:C8541 SNOMEDCT_US_2023_03_01:93472004 UMLS_CUI:C0685201 Splenic hemangioma disease_ontology DOID:256 hemangioma of spleen DOID:256 An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance. MESH:D009021 SNOMEDCT_US_2023_03_01:286934009 UMLS_CUI:C0026552 disease_ontology DOID:2560 morphine dependence DOID:2560 An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Opioid_dependence MESH:D010482 NCI:C34913 SNOMEDCT_US_2023_03_01:34597006 UMLS_CUI:C0031024 Apical abscess Dentoalveolar abscess Periapical abscess Suppurative apical periodontitis disease_ontology DOID:2562 suppurative periapical periodontitis DOID:2562 Septicemia due to Serratia (disorder) Septicemia due to serratia disease_ontology DOID:2563 obsolete Serratia septicemia true DOID:2563 A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea. ICD10CM:H18.55 ICD9CM:371.55 MESH:D003317 MIM:217800 NCI:C34793 SNOMEDCT_US_2023_03_01:60258001 UMLS_CUI:C0024439 Fehr corneal dystrophy MACULAR DYSTROPHY, CORNEAL, 1 disease_ontology DOID:2565 macular corneal dystrophy DOID:2565 A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea. url:http://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-macular url:http://en.wikipedia.org/wiki/Macular_corneal_dystrophy url:http://www.omim.org/entry/217800?search=217800&highlight=217800 url:https://www.ncbi.nlm.nih.gov/pubmed/11017086 url:https://www.ncbi.nlm.nih.gov/pubmed/17093400 DOID:8944 ICD10CM:H18.5 ICD9CM:371.5 MESH:D003317 NCI:C34512 NCI:C34513 SNOMEDCT_US_2023_03_01:5587004 SNOMEDCT_US_2023_03_01:77797009 UMLS_CUI:C0010035 UMLS_CUI:C0010036 disease_ontology DOID:2566 corneal dystrophy DOID:2566 disease_ontology DOID:2567 obsolete primary Enterobacteriaceae infectious disease true DOID:2567 A cervix disease that is characterized by inflammation of the cervix. DOID:10110 ICD10CM:N72 ICD9CM:616.0 MESH:D002575 NCI:C26716 SNOMEDCT_US_2023_03_01:198199009 SNOMEDCT_US_2023_03_01:237081003 UMLS_CUI:C0007860 UMLS_CUI:C0007861 disease_ontology DOID:2568 cervicitis DOID:2568 A cervix disease that is characterized by inflammation of the cervix. url:https://www.ncbi.nlm.nih.gov/pubmed/23584805 ICD9CM:362.57 MESH:D015593 SNOMEDCT_US_2023_03_01:141199000 UMLS_CUI:C0035312 disease_ontology DOID:2569 OMIM mapping confirmed by DO. [SN]. retinal drusen DOID:2569 MESH:D015620 SNOMEDCT_US_2023_03_01:127070008 UMLS_CUI:C0019613 disease_ontology DOID:2570 malignant histiocytic disease DOID:2570 A histiocytosis that is characterized by clonal proliferation of Langerhans cells. DOID:10617 DOID:10618 DOID:10620 DOID:10623 DOID:10624 DOID:10625 DOID:2553 DOID:2554 DOID:9582 ICD10CM:C96.0 ICD10CM:C96.6 ICD9CM:202.5 ICDO:9751/1 MESH:C538636 MESH:D006646 MIM:246400 MIM:604856 NCI:C3107 NCI:C3160 SNOMEDCT_US_2023_03_01:154583006 SNOMEDCT_US_2023_03_01:234439008 UMLS_CUI:C0019621 UMLS_CUI:C0023381 Histiocytosis X Langerhan's cell histiocytosis Langerhans cell granulomatosis Letterer-Siwe disease Letterer-Siwe disease involving intra-abdominal lymph nodes Letterer-Siwe disease involving intrapelvic lymph nodes Letterer-Siwe disease involving intrathoracic lymph nodes Letterer-Siwe disease involving lymph nodes of axilla and upper limb Letterer-Siwe disease involving lymph nodes of head, face and neck Letterer-Siwe disease involving lymph nodes of head, face, and neck Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb Letterer-Siwe disease involving lymph nodes of multiple sites Letterer-Siwe disease involving spleen Letterer-Siwe disease of intra-abdominal lymph nodes Letterer-Siwe disease of intrapelvic lymph nodes Letterer-Siwe disease of intrathoracic lymph nodes Letterer-Siwe disease of lymph nodes of axilla and upper limb Letterer-Siwe disease of lymph nodes of axilla and/or upper limb Letterer-Siwe disease of lymph nodes of head, face and neck Letterer-Siwe disease of lymph nodes of head, face and/or neck Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb Letterer-Siwe disease of lymph nodes of inguinal region and lower limb Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb Letterer-Siwe disease of lymph nodes of multiple sites Letterer-Siwe disease of spleen disease_ontology DOID:2571 OMIM mapping confirmed by DO. [SN]. Langerhans-cell histiocytosis DOID:2571 A histiocytosis that is characterized by clonal proliferation of Langerhans cells. url:http://en.wikipedia.org/wiki/Langerhans_cell_histiocytosis Drug-induced delirium (disorder) disease_ontology DOID:2573 obsolete drug-induced delirium true DOID:2573 Diabetes mellitus juvenile type, uncontrolled, with renal manifestations Diabetes mellitus type I [juvenile type], uncontrolled, with renal manifestations disease_ontology DOID:2574 obsolete diabetes mellitus insulin dependent type uncontrolled with renal manifestations true DOID:2574 A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance. ICD9CM:304.11 UMLS_CUI:C0154482 disease_ontology DOID:2575 barbiturate dependence DOID:2575 A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Barbiturate_dependence A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. GARD:13160 ICD10CM:E71.540 MESH:D018902 MIM:PS215100 NCI:C85047 ORDO:177 SNOMEDCT_US_2023_03_01:56692003 UMLS_CUI:C0282529 Chondrodysplasia Punctata, Rhizomelic Form disease_ontology DOID:2580 OMIM mapping confirmed by DO. [SN]. rhizomelic chondrodysplasia punctata DOID:2580 A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. url:http://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata url:http://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata url:https://www.ncbi.nlm.nih.gov/pubmed/15679822 A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. GARD:8542 ICD10CM:Q77.3 MESH:D002806 MIM:215105 NCI:C84632 ORDO:93442 SNOMEDCT_US_2023_03_01:205486004 UMLS_CUI:C0008445 Chondrodysplasia punctata congenita disease_ontology DOID:2581 DeObs MGI. chondrodysplasia punctata MESH:D002806 DOID:2581 A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. url:https://en.wikipedia.org/wiki/Chondrodysplasia_punctata#cite_note-Fitz2-1 url:https://www.ncbi.nlm.nih.gov/pubmed/22229330 A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13. GARD:363 MESH:D020642 MIM:614097 NCI:C84526 ORDO:926 SNOMEDCT_US_2023_03_01:190954001 UMLS_CUI:C0268419 acatalasemia deficiency of catalase disease_ontology DOID:2582 acatalasia DOID:2582 A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13. url:https://pubmed.ncbi.nlm.nih.gov/1999334/ A B cell deficiency that is caused by a reduction in all types of gamma globulins. DOID:618 ICD10CM:D80.1 ICD9CM:279.00 MESH:D000361 MIM:PS601495 NCI:C26931 SNOMEDCT_US_2023_03_01:119250001 SNOMEDCT_US_2023_03_01:267512002 UMLS_CUI:C0001768 UMLS_CUI:C0086438 IGHM hypogammaglobulinemia mu heavy chain deficiency disease_ontology DOID:2583 OMIM mapping confirmed by DO. [SN]. agammaglobulinemia MESH:D000361 DOID:2583 A B cell deficiency that is caused by a reduction in all types of gamma globulins. url:http://en.wikipedia.org/wiki/Dysgammaglobulinemia IGHM disease_ontology DOID:2584 obsolete nephrotic syndrome with lesion of endothelial glomerulonephritis true DOID:2584 disease_ontology DOID:2585 obsolete nephrotic syndrome with lesion of segmental hyalinosis true DOID:2585 Nephrotic syndrome with Lesion of Hypocomplementemic Glomerulonephritis disease_ontology DOID:2586 obsolete nephrotic syndrome with lesion of hypocomplementemic glomerulonephritis true DOID:2586 Nephrotic syndrome with Lesion of Mesangiocapillary Glomerulonephritis disease_ontology DOID:2587 obsolete nephrotic syndrome with lesion of mesangiocapillary glomerulonephritis true DOID:2587 Nephrotic syndrome with Lesion of Persistent Glomerulonephritis disease_ontology DOID:2588 obsolete nephrotic syndrome with lesion of persistent glomerulonephritis true DOID:2588 Nephrotic syndrome with lesion of membranous glomerulonephritis disease_ontology DOID:2589 obsolete nephrotic syndrome with lesion of membranous glomerulonephritis true DOID:2589 disease_ontology DOID:259 obsolete abortion complicated by embolism true DOID:259 A nephrotic syndrome that has_material_basis_in genetic mutations. ICD10CM:N04 MESH:C535761 MIM:PS256300 NCI:C35337 SNOMEDCT_US_2023_03_01:48796009 UMLS_CUI:C3501848 Congenital nephrotic syndrome disease_ontology DOID:2590 familial nephrotic syndrome DOID:2590 A nephrotic syndrome that has_material_basis_in genetic mutations. url:https://www.ncbi.nlm.nih.gov/pubmed/19066979 Nephrotic syndrome with Lesion of Lobular Glomerulonephritis disease_ontology DOID:2591 obsolete nephrotic syndrome with lesion of lobular glomerulonephritis true DOID:2591 Nephrotic syndrome with Lesion of Focal Glomerulosclerosis disease_ontology DOID:2592 obsolete nephrotic syndrome with lesion of focal glomerulosclerosis true DOID:2592 ICD10CM:C32.0 ICD9CM:161.0 NCI:C3544 SNOMEDCT_US_2023_03_01:187841006 UMLS_CUI:C0153483 Ca larynx - glottis malignant tumor of glottis malignant tumor of the Glottis disease_ontology DOID:2595 glottis cancer DOID:2595 A respiratory system cancer that is located_in the larynx. GARD:6862 ICD10CM:C32 ICD9CM:161 MESH:D007822 NCI:C7484 SNOMEDCT_US_2023_03_01:93859007 UMLS_CUI:C0007107 disease_ontology DOID:2596 larynx cancer DOID:2596 A respiratory system cancer that is located_in the larynx. url:http://en.wikipedia.org/wiki/Larynx NCI:C4425 SNOMEDCT_US_2023_03_01:126693009 UMLS_CUI:C0345713 neoplasm of glottis tumor of the Glottis disease_ontology DOID:2597 glottis neoplasm DOID:2597 MESH:D007822 NCI:C3156 SNOMEDCT_US_2023_03_01:126692004 UMLS_CUI:C0023055 laryngeal tumor larynx neoplasm neoplasm of larynx disease_ontology DOID:2598 laryngeal benign neoplasm DOID:2598 NCI:C4923 SNOMEDCT_US_2023_03_01:372103002 UMLS_CUI:C0740083 Glottic carcinoma carcinoma of glottis disease_ontology DOID:2599 glottis carcinoma DOID:2599 An endocrine system disease that is located_in the pancreas. ICD10CM:K86.8 ICD9CM:577.8 SNOMEDCT_US_2023_03_01:197566002 UMLS_CUI:C0029771 disease_ontology DOID:26 pancreas disease DOID:26 An endocrine system disease that is located_in the pancreas. url:http://en.wikipedia.org/wiki/Pancreatic_disease ICD10CM:C18.3 ICD9CM:153.0 SNOMEDCT_US_2023_03_01:93826009 UMLS_CUI:C0153433 Ca hepatic flexure - colon malignant neoplasm of hepatic flexure malignant tumor of hepatic flexure disease_ontology DOID:260 hepatic flexure cancer DOID:260 A larynx cancer that has_material_basis_in epithelial cells. NCI:C4855 SNOMEDCT_US_2023_03_01:154480006 UMLS_CUI:C0595989 cancer of larynx carcinoma of larynx disease_ontology DOID:2600 laryngeal carcinoma DOID:2600 A larynx cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma NCI:C4302 SNOMEDCT_US_2023_03_01:9266000 UMLS_CUI:C0334548 Periosteal Chondroma disease_ontology DOID:2601 juxtacortical chondroma DOID:2601 A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. GARD:6052 ICDO:9220/0 MESH:D002812 NCI:C53459 SNOMEDCT_US_2023_03_01:269638002 UMLS_CUI:C0936248 central Chondroma disease_ontology DOID:2602 chondroma DOID:2602 A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. url:http://en.wikipedia.org/wiki/Chondroma A cell type benign neoplasm that has_material_basis_in gland and muscle components. ICDO:8932/0 MESH:D018194 NCI:C3726 SNOMEDCT_US_2023_03_01:40293003 UMLS_CUI:C0206622 disease_ontology DOID:2609 adenomyoma MESH:D018194 DOID:2609 A cell type benign neoplasm that has_material_basis_in gland and muscle components. url:http://en.wikipedia.org/wiki/Adenomyoma ICD10CM:C18.4 ICD9CM:153.1 SNOMEDCT_US_2023_03_01:94105000 UMLS_CUI:C0153434 Ca transverse colon malignant tumor of transverse colon disease_ontology DOID:261 transverse colon cancer DOID:261 ICDO:8461/0 NCI:C4181 SNOMEDCT_US_2023_03_01:67073007 UMLS_CUI:C0334360 disease_ontology DOID:2614 serous surface papilloma DOID:2614 A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue. DOID:1635 ICDO:8050/0 MESH:D010212 NCI:C3713 NCI:C7440 SNOMEDCT_US_2023_03_01:711329002 SNOMEDCT_US_2023_03_01:82049002 UMLS_CUI:C0030354 UMLS_CUI:C0205875 papillomatosis disease_ontology DOID:2615 papilloma DOID:2615 A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue. url:http://www.merriam-webster.com/medlineplus/papilloma A reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the region of the Wolffian duct. SNOMEDCT_US_2023_03_01:72889001 UMLS_CUI:C0334530 Mesonephric adenoma Mesonephroma, benign benign mesonephroma disease_ontology DOID:2616 Wolffian duct adenoma DOID:2616 A reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the region of the Wolffian duct. url:https://www.ncbi.nlm.nih.gov/pubmed/14515653 A kidney cancer which is manifested in the kidney. NCI:C4527 SNOMEDCT_US_2023_03_01:254923001 UMLS_CUI:C0346256 hemangiopericytoma of kidney renal hemangiopericytoma disease_ontology DOID:262 kidney hemangiopericytoma DOID:262 A kidney cancer which is manifested in the kidney. url:http://en.wikipedia.org/wiki/Hemangiopericytoma url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1466284/ ductal, lobular and medullary neoplasm (morphologic abnormality) ductal, lobular and medullary tumor (qualifier value) disease_ontology DOID:2620 obsolete ductal, lobular, and medullary neoplasm true DOID:2620 A peripheral nervous system neoplasm that is located_in the autonomic nervous system. NCI:C5112 UMLS_CUI:C1332356 tumor of Autonomic nervous system disease_ontology DOID:2621 autonomic nervous system neoplasm DOID:2621 A peripheral nervous system neoplasm that is located_in the autonomic nervous system. url:http://en.wikipedia.org/wiki/Autonomic_nervous_system disease_ontology DOID:2622 obsolete neuroblastic tumor true DOID:2622 neuronal and Glio-neuronal tumor neuronal and mixed neuronal-glial tumor (morphologic abnormality) disease_ontology DOID:2623 obsolete neuronal and glio-neuronal neoplasm true DOID:2623 DOID:3661 GARD:4214 ICDO:9390/0 MESH:D020288 MIM:260500 NCI:C3698 NCI:C5800 SNOMEDCT_US_2023_03_01:18021007 UMLS_CUI:C0205770 UMLS_CUI:C1332963 childhood choroid plexus papilloma disease_ontology DOID:2626 OMIM mapping confirmed by DO. [SN]. choroid plexus papilloma DOID:2626 Papillary serous cystadenoma (morphologic abnormality) Papillary serous cystadenoma NOS (morphologic abnormality) disease_ontology DOID:2629 obsolete papillary serous cystadenoma true DOID:2629 A urinary system cancer that is located_in the kidney. DOID:11834 DOID:3676 ICD10CM:C64 ICD9CM:189.0 MESH:D007680 NCI:C120456 NCI:C3150 NCI:C7548 SNOMEDCT_US_2023_03_01:126880001 SNOMEDCT_US_2023_03_01:93849006 UMLS_CUI:C0022665 UMLS_CUI:C0494158 UMLS_CUI:C0740457 malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer disease_ontology DOID:263 kidney cancer DOID:263 A urinary system cancer that is located_in the kidney. url:http://en.wikipedia.org/wiki/Kidney_cancer Papillary Cystadenoma Papillary cystadenoma (morphologic abnormality) Papillary cystadenoma NOS (morphologic abnormality) disease_ontology DOID:2630 obsolete papillary cystadenoma true DOID:2630 serous Cystoma serous cystadenoma NOS (morphologic abnormality) serous microcystic adenoma disease_ontology DOID:2631 obsolete serous cystadenoma true DOID:2631 A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies. DOID:5589 NCI:C4182 SNOMEDCT_US_2021_09_01:90725004 Micropapillary serous carcinoma Papillary serous carcinoma serous surface papillary carcinoma disease_ontology DOID:2632 papillary serous adenocarcinoma DOID:2632 A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies. url:https://www.ajronline.org/doi/10.2214/ajr.182.6.1821534 mucinous adenoma mucinous adenoma (morphologic abnormality) mucinous cystadenoma mucinous cystadenoma (morphologic abnormality) disease_ontology DOID:2633 obsolete mucinous cystadenoma true DOID:2633 An adenoma that forms a cyst. ICDO:8440/0 MESH:D003537 NCI:C2972 SNOMEDCT_US_2023_03_01:189680006 UMLS_CUI:C0010633 Cystoma disease_ontology DOID:2634 cystadenoma DOID:2634 An adenoma that forms a cyst. url:http://en.wikipedia.org/wiki/Cystadenoma mucinous tumor disease_ontology DOID:2635 obsolete mucinous neoplasm true DOID:2635 An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary. GARD:9397 MESH:D001948 NCI:C39954 UMLS_CUI:C0006160 benign ovarian Brenner tumor benign ovarian Brenner tumour ovarian Brenner tumour disease_ontology DOID:2636 ovarian Brenner tumor DOID:2636 An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary. url:https://en.wikipedia.org/wiki/Brenner_tumour A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures. NCI:C4272 SNOMEDCT_US_2023_03_01:41382006 UMLS_CUI:C0334497 Pericanalicular Fibroadenoma of breast Pericanalicular fibroadenoma disease_ontology DOID:2639 breast pericanalicular fibroadenoma DOID:2639 A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures. url:https://en.wikipedia.org/wiki/Fibroadenoma A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries. DOID:5372 GARD:2627 ICDO:9150/3 MESH:D006393 NCI:C3087 SNOMEDCT_US_2023_03_01:134335004 UMLS_CUI:C0018922 Haemangiopericytic meningioma hemangiopericytoma, malignant malignant hemangiopericytoma disease_ontology DOID:264 hemangiopericytoma DOID:264 A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries. url:http://en.wikipedia.org/wiki/Hemangiopericytoma An ovarian benign neoplasm that is composed either exclusively or predominantly of thyroid tissue. DOID:5209 ICDO:9090/0 MESH:D013330 NCI:C7468 SNOMEDCT_US_2023_03_01:24327009 UMLS_CUI:C0038478 disease_ontology benign struma ovarii DOID:2640 struma ovarii DOID:2640 An ovarian benign neoplasm that is composed either exclusively or predominantly of thyroid tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/25640097 url:https://www.ncbi.nlm.nih.gov/pubmed/26374222 A monodermal teratoma that has_material_basis_in germ cells that are highly specialized and is located_in the ovary. NCI:C8113 UMLS_CUI:C0280134 Ovarian Monodermal and Highly Specialized teratoma disease_ontology DOID:2641 ovarian germ cell monodermal and highly specialized teratoma DOID:2641 A monodermal teratoma that has_material_basis_in germ cells that are highly specialized and is located_in the ovary. url:https://www.ncbi.nlm.nih.gov/pubmed/12440821 Lymphangioleiomyoma Lymphangiomyoma (morphologic abnormality) disease_ontology DOID:2642 obsolete lymphangiomyoma true DOID:2642 MESH:D054973 NCI:C38150 SNOMEDCT_US_2023_03_01:388601000 UMLS_CUI:C1300127 PEComa neoplasm with Perivascular epithelioid cell differentiation disease_ontology DOID:2643 perivascular epithelioid cell tumor DOID:2643 A cell type benign neoplasm that has_material_basis_in mesothelium. DOID:2644 ICD10CM:C45 MESH:D008654 NCI:C3234 SNOMEDCT_US_2023_03_01:154491004 UMLS_CUI:C0025500 benign tumor of Mesothelium disease_ontology DOID:2645 benign mesothelioma DOID:2645 A cell type benign neoplasm that has_material_basis_in mesothelium. url:http://www.mayoclinic.org/diseases-conditions/mesothelioma/basics/definition/con-20026157?_ga=1.105809091.1500897651.1410548817 ICDO:9373/0 NCI:C6581 SNOMEDCT_US_2023_03_01:404086000 UMLS_CUI:C1266175 disease_ontology DOID:2647 parachordoma DOID:2647 DOID:7387 NCI:C4174 SNOMEDCT_US_2023_03_01:78424008 UMLS_CUI:C1368816 adenoma of the Sebaceous gland skin appendage sebaceous adenoma disease_ontology DOID:2648 sebaceous adenoma DOID:2648 A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints. GARD:6047 ICDO:9230/1 MESH:D002804 NCI:C2945 SNOMEDCT_US_2023_03_01:9001003 UMLS_CUI:C0008441 Chondroblastoma of bone disease_ontology DOID:2649 chondroblastoma DOID:2649 A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints. url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/chondroblastoma url:https://www.ncbi.nlm.nih.gov/books/NBK536947/ An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen. NCI:C4564 SNOMEDCT_US_2023_03_01:187821001 UMLS_CUI:C0346424 Splenic hemangiosarcoma angiosarcoma of spleen disease_ontology DOID:265 spleen angiosarcoma DOID:265 An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen. url:https://pubs.rsna.org/doi/full/10.1148/radiol.2351040308 Intraductal papillomatosis Intraductal papillomatosis (morphologic abnormality) Intraductal papillomatosis NOS (morphologic abnormality) disease_ontology DOID:2651 obsolete intraductal papillomatosis true DOID:2651 MESH:D054363 NCI:C4457 SNOMEDCT_US_2023_03_01:15702005 UMLS_CUI:C0334511 fibrous mesothelioma, benign localized benign fibrous Mesothelioma disease_ontology DOID:2653 benign fibrous mesothelioma DOID:2653 disease_ontology DOID:2654 obsolete serous neoplasm true DOID:2654 A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts. NCI:C4271 SNOMEDCT_US_2023_03_01:72905006 UMLS_CUI:C0334496 disease_ontology DOID:2656 breast intracanalicular fibroadenoma DOID:2656 A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts. url:https://en.wikipedia.org/wiki/Fibroadenoma A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). ICD10CM:K09.8 ICDO:9084/0 MESH:D003884 NCI:C9011 SNOMEDCT_US_2023_03_01:189117002 UMLS_CUI:C0011649 Dermoid choristoma Dermoid tumour Mature cystic teratoma cystic dermoid choristoma teratoma, benign disease_ontology DOID:2658 dermoid cyst DOID:2658 A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). url:https://en.wikipedia.org/wiki/Dermoid_cyst malignant soft tissue tumor of Spleen disease_ontology DOID:266 obsolete malignant soft tissue neoplasm of the spleen true DOID:266 A benign teratoma that is characterized by the presence of cysts or cystic spaces. NCI:C9014 SNOMEDCT_US_2023_03_01:42717009 UMLS_CUI:C1368903 disease_ontology DOID:2660 cystic teratoma DOID:2660 A benign teratoma that is characterized by the presence of cysts or cystic spaces. url:https://www.ncbi.nlm.nih.gov/pubmed/23905455 A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland. ICDO:8982/0 MESH:D009208 NCI:C40392 SNOMEDCT_US_2023_03_01:69291002 UMLS_CUI:C0027070 Myoepithelial adenoma Myoepithelial neoplasm benign myoepithelioma disease_ontology DOID:2661 myoepithelioma DOID:2661 A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland. url:http://medical-dictionary.thefreedictionary.com/myoepithelioma MESH:D013544 NCI:C3398 SNOMEDCT_US_2023_03_01:126490003 UMLS_CUI:C0038987 Sweat gland tumor neoplasm of sweat gland tumor of the Sweat gland disease_ontology DOID:2664 sweat gland benign neoplasm DOID:2664 NCI:C4267 Mesenchymoma, benign disease_ontology DOID:2667 Obsolete concept in NCI, LS. obsolete benign mesenchymoma true DOID:2667 ICDO:8990/3 MESH:D008637 NCI:C3233 SNOMEDCT_US_2023_03_01:44524009 UMLS_CUI:C0025464 disease_ontology DOID:2668 mesenchymoma DOID:2668 ICDO:9507/0 NCI:C4328 SNOMEDCT_US_2023_03_01:4230004 UMLS_CUI:C0334599 Pacinian neurofibroma disease_ontology DOID:2669 Pacinian tumor DOID:2669 NCI:C4115 SNOMEDCT_US_2023_03_01:44342003 UMLS_CUI:C0334266 transitional cell papilloma transitional cell papilloma, benign disease_ontology DOID:2670 transitional papilloma DOID:2670 A carcinoma that derives_from transitional epithelial cells. DOID:3995 GARD:7794 ICDO:8120/3 MESH:D002295 NCI:C2930 NCI:C6783 SNOMEDCT_US_2023_03_01:118287003 SNOMEDCT_US_2023_03_01:27090000 UMLS_CUI:C0007138 UMLS_CUI:C0334265 transitional carcinoma transitional cell tumor urothelial cell carcinoma disease_ontology transitional cell neoplasm DOID:2671 transitional cell carcinoma DOID:2671 A carcinoma that derives_from transitional epithelial cells. url:http://en.wikipedia.org/wiki/Transitional_cell_carcinoma A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium. NCI:C7504 multilocular cystic nephroma, mixed epithelial stromal tumour and renal epithelial stromal tumour disease_ontology DOID:2673 adult cystic nephroma DOID:2673 A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium. url:http://www.pathologyoutlines.com/topic/kidneytumorcysticnephroma.html url:https://www.ncbi.nlm.nih.gov/pubmed/27831959 Papillary mucinous cystadenoma (morphologic abnormality) Papillary mucinous cystadenoma NOS (morphologic abnormality) disease_ontology DOID:2676 obsolete papillary pseudomucinous cystadenoma true DOID:2676 A mixed neoplasm that is seen mostly in early infancy and that consists of classic and cellular (atypical) variants. disease_ontology DOID:2678 obsolete adult mesoblastic nephroma true DOID:2678 A mixed neoplasm that is seen mostly in early infancy and that consists of classic and cellular (atypical) variants. url:https://www.ncbi.nlm.nih.gov/pubmed/9669345 GARD:10640 ICDO:9413/0 NCI:C9505 SNOMEDCT_US_2023_03_01:87211000119104 UMLS_CUI:C1266177 Dysembryoplastic Neuroepithelial neoplasm dysembryoplastic neuroepithelial tumour disease_ontology DOID:2679 dysembryoplastic neuroepithelial tumor DOID:2679 An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver. GARD:5813 ICD10CM:C22.3 NCI:C4438 SNOMEDCT_US_2023_03_01:187770005 UMLS_CUI:C0345907 angiosarcoma of liver hemangiosarcoma of the Liver disease_ontology DOID:268 liver angiosarcoma DOID:268 An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver. url:https://www.ncbi.nlm.nih.gov/pubmed/30093472 pediatric neoplasm of CNS disease_ontology DOID:2680 obsolete pediatric central nervous system tumor true DOID:2680 Mole NOS Mole of skin nevus nevus (disorder) nevus, NOS skin mole, NOS disease_ontology DOID:2681 obsolete nevus true DOID:2681 ICDO:8504/0 SNOMEDCT_US_2023_03_01:47488001 UMLS_CUI:C0334374 Intracystic papilloma disease_ontology DOID:2682 intracystic papillary adenoma DOID:2682 A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands. ICDO:9013/0 MESH:D000232 SNOMEDCT_US_2023_03_01:189823009 UMLS_CUI:C0001422 disease_ontology DOID:2683 adenofibroma MESH:D000232 DOID:2683 A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands. url:http://www.ncbi.nlm.nih.gov/mesh/68000232 ICDO:8842/0 NCI:C6582 SNOMEDCT_US_2023_03_01:404076001 UMLS_CUI:C1266128 Ossifying Fibromyxoma ossifying fibromyxoid tumour disease_ontology DOID:2685 ossifying fibromyxoid tumor DOID:2685 A sarcoma that is located_in the skin. NCI:C5585 UMLS_CUI:C0856900 Cutaneous sarcoma disease_ontology DOID:2687 skin sarcoma DOID:2687 A sarcoma that is located_in the skin. url:https://www.ncbi.nlm.nih.gov/pubmed/21146736 A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels. DOID:2686 ICDO:9170/3 MESH:C537491 MESH:D008204 NCI:C3205 NCI:C4490 SNOMEDCT_US_2023_03_01:403986008 SNOMEDCT_US_2023_03_01:62497000 UMLS_CUI:C0024224 UMLS_CUI:C0346082 Lymphangiosarcoma of Stewart and Treves Stewart-Treves syndrome malignant Lymphangioendothelioma skin lymphangiosarcoma disease_ontology DOID:2689 lymphangiosarcoma DOID:2689 A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels. url:https://en.wikipedia.org/wiki/Lymphangiosarcoma url:https://www.ncbi.nlm.nih.gov/pubmed/9796078 A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells. ICD10CM:D21 ICDO:8895/0 MESH:D009214 NCI:C4882 SNOMEDCT_US_2023_03_01:66357004 UMLS_CUI:C0027086 benign neoplasm of the Muscle disease_ontology DOID:2691 myoma DOID:2691 A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/29789793 A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle. DOID:0050616 MESH:D007984 NCI:C3188 NCI:C4213 SNOMEDCT_US_2023_03_01:45002009 SNOMEDCT_US_2023_03_01:77870005 UMLS_CUI:C0023601 UMLS_CUI:C0334410 Leydig cell neoplasm disease_ontology DOID:2696 Leydig cell tumor DOID:2696 A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle. url:https://en.wikipedia.org/wiki/Leydig_cell_tumour NCI:C8383 SNOMEDCT_US_2023_03_01:41627005 UMLS_CUI:C0334684 renal cell adenoma disease_ontology DOID:2697 renal adenoma DOID:2697 NCI:C39812 SNOMEDCT_US_2023_03_01:128760004 UMLS_CUI:C1266141 Metanephric adenofibroma disease_ontology DOID:2698 nephrogenic adenofibroma DOID:2698 Schneiderian papilloma disease_ontology DOID:2699 obsolete sinonasal papilloma true DOID:2699 A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver. NCI:C4437 SNOMEDCT_US_2023_03_01:254601002 UMLS_CUI:C0345906 hepatic sarcoma disease_ontology DOID:270 liver sarcoma DOID:270 A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver. url:http://www.cancersupportivecare.com/liver.html An adenofibroma that is characterized by the presence of mucin. ICDO:9015/0 NCI:C8978 SNOMEDCT_US_2023_03_01:10705005 UMLS_CUI:C0334499 disease_ontology DOID:2700 mucinous adenofibroma DOID:2700 An adenofibroma that is characterized by the presence of mucin. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977110/ DOID:2665 MESH:D000070779 NCI:C3829 NCI:C6532 SNOMEDCT_US_2023_03_01:5178002 SNOMEDCT_US_2023_03_01:71508003 UMLS_CUI:C0221289 UMLS_CUI:C0588125 Synovioma, benign benign synovioma benign tumor of Synovium localized Giant cell tumor of Tenosynovium disease_ontology DOID:2701 nodular tenosynovitis DOID:2701 GARD:7396 ICD10CM:M12.2 MESH:D013586 NCI:C3401 SNOMEDCT_US_2023_03_01:202903009 UMLS_CUI:C0039106 Diffuse Giant cell tumor of Tenosynovium villous tenosynovitis disease_ontology DOID:2702 pigmented villonodular synovitis DOID:2702 A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. GARD:7722 MESH:D013585 NCI:C50766 SNOMEDCT_US_2023_03_01:268092005 UMLS_CUI:C0039103 disease_ontology DOID:2703 synovitis DOID:2703 A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. url:https://en.wikipedia.org/wiki/Synovitis sn:IEDB NCI:C6535 SNOMEDCT_US_2023_03_01:128778009 UMLS_CUI:C1266168 Giant cell tumour of tendon sheath, malignant malignant Giant cell neoplasm of the Tendon Sheath disease_ontology DOID:2704 malignant giant cell tumor of the tendon sheath DOID:2704 NCI:C4090 SNOMEDCT_US_2023_03_01:83950009 UMLS_CUI:C0334229 malignant Giant cell neoplasm malignant tumor, giant cell type disease_ontology DOID:2705 malignant giant cell tumor DOID:2705 NCI:C6531 UMLS_CUI:C1334624 malignant tumor of Synovium disease_ontology DOID:2706 synovium cancer DOID:2706 An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. ICD10CM:J67.5 ICD9CM:495.5 MESH:D005203 SNOMEDCT_US_2023_03_01:52333004 UMLS_CUI:C0155889 disease_ontology DOID:2708 mushroom workers' lung DOID:2708 An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470139/pdf/thorax00134-0122.pdf NCI:C3869 SNOMEDCT_US_2023_03_01:93469006 UMLS_CUI:C0238246 Angioma of Liver hepatic angioma disease_ontology DOID:271 hemangioma of liver DOID:271 An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building. MESH:D018877 SNOMEDCT_US_2023_03_01:19076009 UMLS_CUI:C0037050 disease_ontology DOID:2710 sick building syndrome DOID:2710 An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building. url:https://www.merriam-webster.com/dictionary/sick%20building%20syndrome#medicalDictionary ICD10CM:N47.1 MESH:D010688 NCI:C26852 SNOMEDCT_US_2023_03_01:449826002 UMLS_CUI:C0031538 Tight foreskin Tight frenulum disease_ontology DOID:2712 phimosis DOID:2712 A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. MESH:D001816 MIM:210900 NCI:C2903 ORDO:125 SNOMEDCT_US_2023_03_01:4434006 UMLS_CUI:C0005859 Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome disease_ontology DOID:2717 OMIM mapping confirmed by DO. [SN]. Bloom syndrome DOID:2717 A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. url:http://ghr.nlm.nih.gov/condition/bloom-syndrome url:https://en.wikipedia.org/wiki/Bloom_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/10823897 url:https://www.ncbi.nlm.nih.gov/pubmed/9482582 A pneumothorax that is characterized by having air in the chest cavity and blood in the chest cavity. ICD10CM:J94.2 MESH:D006468 SNOMEDCT_US_2023_03_01:16632002 UMLS_CUI:C0019077 haemopneumothorax disease_ontology DOID:2718 hemopneumothorax DOID:2718 A pneumothorax that is characterized by having air in the chest cavity and blood in the chest cavity. url:https://en.wikipedia.org/wiki/Hemopneumothorax A vascular disease that is located_in the liver. NCI:C35442 SNOMEDCT_US_2023_03_01:235878005 UMLS_CUI:C0400923 vascular disorder of liver disease_ontology DOID:272 hepatic vascular disease DOID:272 A vascular disease that is located_in the liver. url:https://www.ncbi.nlm.nih.gov/pubmed/21055687 A dermatitis that selectively affects the hands and feet. GARD:5722 MESH:D000169 NCI:C84532 SNOMEDCT_US_2023_03_01:8197001 UMLS_CUI:C0001197 disease_ontology DOID:2722 acrodermatitis MESH:D000169 DOID:2722 A dermatitis that selectively affects the hands and feet. url:http://en.wikipedia.org/wiki/Acrodermatitis A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. DOID:8614 DOID:8917 ICD10CM:L30.9 MESH:D003872 NCI:C2983 SNOMEDCT_US_2023_03_01:238538009 UMLS_CUI:C0011603 eczema skin inflammation disease_ontology DOID:2723 dermatitis DOID:2723 A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. url:http://en.wikipedia.org/wiki/Dermatitis url:http://www.nlm.nih.gov/medlineplus/eczema.html Cavernous naevus Naevus flammeus Port Wine type hemangioma disease_ontology DOID:2724 obsolete port-wine stain true DOID:2724 A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells. ICD10CM:Q82.5 ICDO:9131/0 MESH:D018324 NCI:C7457 SNOMEDCT_US_2023_03_01:56975005 UMLS_CUI:C0206733 Capillary haemangioma Congenital vascular hamartoma Congenital vascular naevus Infantile hemangioma Juvenile hemangioma Strawberry haemangioma Strawberry nevus Strawberry nevus of skin cellular hemangioma of Infancy disease_ontology DOID:2725 capillary hemangioma DOID:2725 A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells. url:https://eyewiki.aao.org/Capillary_Hemangioma Pilosebaceous Nevoid disorder nevus comedonicus (disorder) disease_ontology DOID:2726 obsolete acne nevus true DOID:2726 disease_ontology DOID:2728 obsolete Pilosebaceous hamartoma true DOID:2728 A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. GARD:10905 MESH:D019871 MIM:PS127550 NCI:C111802 ORDO:1775 SNOMEDCT_US_2023_03_01:74911008 UMLS_CUI:C0265965 DKCD disease_ontology DOID:2729 Xref MGI. OMIM mapping by NeuroDevNet. [LS]. dyskeratosis congenita DOID:2729 A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. url:http://en.wikipedia.org/wiki/Dyskeratosis_congenita url:http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita DKCD A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin. GARD:6359 ICD10CM:Q81 MESH:D004820 NCI:C67383 SNOMEDCT_US_2023_03_01:205580008 UMLS_CUI:C0014527 acantholysis bullosa disease_ontology DOID:2730 epidermolysis bullosa DOID:2730 A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin. url:https://rarediseases.org/rare-diseases/epidermolysis-bullosa/ A bullous skin disease that is characterized by fluid filled blisters. MESH:D012872 UMLS_CUI:C0037275 disease_ontology DOID:2731 vesiculobullous skin disease DOID:2731 A bullous skin disease that is characterized by fluid filled blisters. url:https://www.aafp.org/afp/2017/0601/p717.html A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. GARD:4392 ICD10CM:Q82.8 MESH:D011038 MIM:268400 NCI:C3335 SNOMEDCT_US_2023_03_01:205572001 UMLS_CUI:C0032339 Congenital poikiloderma RTS disease_ontology DOID:2732 OMIM mapping confirmed by DO. [SN]. Rothmund-Thomson syndrome MESH:D011038 DOID:2732 A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. url:https://pubmed.ncbi.nlm.nih.gov/20113479/ RTS ICD10CM:L90 NCI:C35163 SNOMEDCT_US_2023_03_01:16343004 UMLS_CUI:C0151514 Atrophoderma Atrophy - skin atrophic condition of skin disease_ontology DOID:2733 skin atrophy DOID:2733 ICD10CM:E50.8 MESH:D007644 MIM:124200 NCI:C84665 SNOMEDCT_US_2023_03_01:157017000 UMLS_CUI:C0022595 DARIER-WHITE DISEASE Darier's disease disease_ontology DOID:2734 OMIM mapping confirmed by DO. [SN]. keratosis follicularis DOID:2734 A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12. DOID:2735 GARD:508 MESH:D030981 MESH:D031845 MIM:102500 NCI:C35545 NCI:C84745 SNOMEDCT_US_2023_03_01:63122002 UMLS_CUI:C0917715 UMLS_CUI:C0917990 Cheney syndrome HJCYS SFPKS acroosteolysis with osteoporosis and changes in skull and mandible arthrodentoosteodysplasia serpentine fibula-polycystic kidney syndrome disease_ontology DOID:2736 OMIM mapping confirmed by DO. [SN]. Hajdu-Cheney syndrome DOID:2736 A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12. url:https://www.ncbi.nlm.nih.gov/pubmed/21378985 url:https://www.ncbi.nlm.nih.gov/pubmed/21378989 url:https://www.ncbi.nlm.nih.gov/pubmed/9714016 HJCYS SFPKS Hereditary benign intraepithelial dyskeratosis Hereditary benign intraepithelial dyskeratosis (disorder) disease_ontology DOID:2737 obsolete Witkop-Von Sallmann disease true DOID:2737 A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. GARD:9643 MESH:D011561 MIM:177850 MIM:264800 NCI:C85036 ORDO:758 SNOMEDCT_US_2023_03_01:7109007 UMLS_CUI:C0033847 Gronblad-Strandberg syndrome disease_ontology DOID:2738 Xref MGI. OMIM mapping confirmed by DO. [SN]. pseudoxanthoma elasticum DOID:2738 A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. url:http://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum url:http://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/253/viewAbstract A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. GARD:6507 ICD10CM:E80.4 MESH:D005878 MIM:143500 NCI:C84729 SNOMEDCT_US_2023_03_01:27503000 UMLS_CUI:C0017551 Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice disease_ontology DOID:2739 OMIM mapping confirmed by DO. [SN]. Gilbert syndrome DOID:2739 A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. url:http://en.wikipedia.org/wiki/Gilbert%27s_syndrome An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. DOID:2740 MESH:D006932 MESH:D006933 NCI:C84761 SNOMEDCT_US_2023_03_01:154770008 UMLS_CUI:C0020433 UMLS_CUI:C0020435 hereditary hyperbilirubinemia hyperbilirubinemia disease_ontology hyperbilirubinaemia DOID:2741 bilirubin metabolic disorder DOID:2741 An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. url:http://en.wikipedia.org/wiki/Hereditary_hyperbilirubinemia A sensory system disease that is characterized by auditory dysfunction located_in the auditory system. DOID:1490 DOID:2011 ICD10CM:H93.9 ICD9CM:388.9 MESH:D004427 NCI:C26757 SNOMEDCT_US_2023_03_01:194193002 UMLS_CUI:C0013447 ear and mastoid disease disease_ontology DOID:2742 auditory system disease DOID:2742 A sensory system disease that is characterized by auditory dysfunction located_in the auditory system. url:https://books.google.com/books?id=r3I0BwAAQBAJ&newbks=1&newbks_redir=0&lpg=PP1&dq=disorders%20of%20auditory%20system&pg=PP1#v=onepage&q=disorders%20of%20auditory%20system&f=false ICD10CM:N28.85 ICD9CM:590.3 SNOMEDCT_US_2023_03_01:197776002 UMLS_CUI:C0156254 disease_ontology DOID:2743 pyeloureteritis cystica DOID:2743 ICD10CM:N12 MESH:D011702 NCI:C34964 SNOMEDCT_US_2023_03_01:27174002 UMLS_CUI:C0034183 disease_ontology DOID:2744 pyelitis DOID:2744 A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity. ICD10CM:F60.81 ICD9CM:301.81 MESH:D010554 NCI:C92635 SNOMEDCT_US_2023_03_01:80711002 UMLS_CUI:C0027402 disease_ontology DOID:2745 narcissistic personality disorder DOID:2745 A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity. url:http://en.wikipedia.org/wiki/Narcissistic_personality_disorder A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13. GARD:6528 ICD10CM:E74.04 MESH:D006012 MIM:232600 NCI:C84738 ORDO:368 SNOMEDCT_US_2023_03_01:55912009 UMLS_CUI:C0017924 Glycogen storage disease 5 Glycogen storage disease, type V McArdle's disease glycogen storage disease type V myophosphorylase deficiency disease_ontology DOID:2746 OMIM mapping confirmed by DO. [SN]. glycogen storage disease V DOID:2746 A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13. url:https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/ A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. ICD10CM:E74.0 ICD9CM:271.0 MESH:D006008 NCI:C61272 SNOMEDCT_US_2023_03_01:267498002 UMLS_CUI:C0017919 glycogenosis glycogenoses disease_ontology DOID:2747 glycogen storage disease DOID:2747 A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. url:http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism url:http://en.wikipedia.org/wiki/Glycogen_storage_disease url:http://www.slideshare.net/anjupaed/glcogen-storage-disorders A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21. ICD10CM:E74.03 MESH:D006010 MIM:232400 NCI:C84736 SNOMEDCT_US_2023_03_01:66937008 UMLS_CUI:C0017922 Glycogen storage disease 3 Glycogen storage disease, type III amylo 1,6 glucosidase deficiency deficiency of debranching enzyme deficiency of dextrin disease_ontology DOID:2748 OMIM mapping confirmed by DO. [SN]. glycogen storage disease III DOID:2748 A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21. url:https://pubmed.ncbi.nlm.nih.gov/17047887/ A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21. GARD:7864 MIM:232200 ORDO:79258 disease_ontology DOID:2749 glycogen storage disease Ia DOID:2749 A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21. url:http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I url:https://pubmed.ncbi.nlm.nih.gov/8211187/ NCI:C5481 UMLS_CUI:C1333770 hemangioma of stomach disease_ontology DOID:275 gastric hemangioma DOID:275 A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12. GARD:2520 ICD10CM:E74.09 MESH:D006011 MIM:232500 NCI:C84737 SNOMEDCT_US_2023_03_01:11179002 UMLS_CUI:C0017923 Amylopectinosis Branching-transferase deficiency glycogenosis Glycogen storage disease 4 Glycogen storage disease, type IV brancher deficiency glycogenosis deficiency of 1,4-alpha-glucan branching enzyme disease_ontology DOID:2750 OMIM mapping confirmed by DO. [SN]. glycogen storage disease IV DOID:2750 A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12. url:https://pubmed.ncbi.nlm.nih.gov/17915577/ A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity. MESH:D006015 SNOMEDCT_US_2023_03_01:41527003 UMLS_CUI:C0017927 Glycogen storage disease 8 glycogen storage disease type VIII glycogenosis type VIII hepatic glycogen phosphorylase kinase deficiency disease_ontology DOID:2751 glycogen storage disease VIII DOID:2751 A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity. url:https://pubmed.ncbi.nlm.nih.gov/2558039/ A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. GARD:5714 ICD10CM:E74.02 MESH:D006009 MIM:232300 NCI:C84734 SNOMEDCT_US_2023_03_01:237967002 UMLS_CUI:C0017921 Generalized glycogenosis Glycogen storage disease 2 Glycogen storage disease, type II Glycogenosis, type 2 Lysosomal alpha-1,4-glucosidase deficiency Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase glycogen storage disease type II disease_ontology DOID:2752 OMIM mapping confirmed by DO. [SN]. glycogen storage disease II DOID:2752 A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. url:http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II disease_ontology DOID:2753 obsolete nervous system lysosomal storage disease true DOID:2753 A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. ICD10CM:E74.09 MESH:D006013 MIM:232700 NCI:C126875 ORDO:369 SNOMEDCT_US_2023_03_01:29291001 UMLS_CUI:C0017925 Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis disease_ontology DOID:2754 Xref MGI. glycogen storage disease VI DOID:2754 A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. url:http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_VI url:http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi url:https://pubmed.ncbi.nlm.nih.gov/25266922/ url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/401/viewAbstract A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons. GARD:7123 MESH:D015270 NCI:C36197 SNOMEDCT_US_2023_03_01:14009004 UMLS_CUI:C0026916 Infection due to Mycobacterium intracellulare MAC disease Mycobacterium Avium Infection Mycobacterium avium Complex disease_ontology DOID:2755 Mycobacterium avium complex disease MESH:D015270 DOID:2755 A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons. url:https://clinicalinfo.hiv.gov/en/guidelines/adult-and-adolescent-opportunistic-infection/mycobacterium-avium-complex-disease url:https://pubmed.ncbi.nlm.nih.gov/35400550/ Infection due to Mycobacterium paratuberculosis (disorder) Johne's disease (disorder) disease_ontology DOID:2756 obsolete paratuberculosis true DOID:2756 Infection due to mycobacteria Mycobacterial Infection Mycobacterial disease Mycobacterial disease NOS (disorder) Mycobacterium infection, unspecified (disorder) Unspecified disease due to mycobacteria disease_ontology DOID:2757 obsolete Mycobacterium infectious disease true DOID:2757 A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C36082 SNOMEDCT_US_2023_03_01:269568000 UMLS_CUI:C0700110 disease_ontology DOID:2762 bone carcinoma DOID:2762 A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A squamous cell carcinoma that is located_in the ethmoid sinus. NCI:C6065 SNOMEDCT_US_2023_03_01:1260046004 UMLS_CUI:C1333477 Epidermoid carcinoma of the ethmoidal sinus disease_ontology DOID:2763 ethmoid sinus squamous cell carcinoma DOID:2763 A squamous cell carcinoma that is located_in the ethmoid sinus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726268/ NCI:C6238 UMLS_CUI:C1333473 adenoid cystic carcinoma of the ethmoid sinus disease_ontology adenoid cystic carcinoma of ethmoid sinus DOID:2764 ethmoid sinus adenoid cystic carcinoma DOID:2764 An ethmoid sinus cancer that derives from epithelial cells of glandular origin. NCI:C6237 UMLS_CUI:C1333472 adenocarcinoma of the ethmoid sinus disease_ontology adenocarcinoma of ethmoid sinus DOID:2766 ethmoid sinus adenocarcinoma DOID:2766 An ethmoid sinus cancer that derives from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months. ICD10CM:F95.0 ICD9CM:307.21 MESH:D013981 NCI:C116767 SNOMEDCT_US_2023_03_01:192622000 UMLS_CUI:C0040702 disease_ontology DOID:2768 transient tic disorder DOID:2768 A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months. url:http://en.wikipedia.org/wiki/Tic_disorder A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occurring intermittently and unpredictably out of a background of normal motor activity. ICD10CM:F95 ICD9CM:307.20 MESH:D013981 SNOMEDCT_US_2023_03_01:155005001 UMLS_CUI:C0040188 disease_ontology DOID:2769 tic disorder DOID:2769 A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occurring intermittently and unpredictably out of a background of normal motor activity. url:http://www.tsa-usa.org/Medical/definitions.html url:https://www.cdc.gov/ncbddd/tourette/diagnosis.html MESH:D006391 NCI:C4868 SNOMEDCT_US_2023_03_01:699948001 UMLS_CUI:C0677608 Placental hemangioma disease_ontology DOID:277 chorioangioma DOID:277 ICD10CM:L22 ICD9CM:691.0 MESH:D003963 NCI:C111886 UMLS_CUI:C0011974 Diaper or napkin erythema Diaper or napkin rash Diaper rash (disorder) Irritant contact dermatitis due to contact with urine and/or faeces Jacquet's dermatitis disease_ontology DOID:2770 obsolete diaper rash true DOID:2770 disease_ontology DOID:2771 obsolete atopic dermatitis and related conditions true DOID:2771 A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation. ICD10CM:L24.9 MESH:D017453 NCI:C27151 SNOMEDCT_US_2023_03_01:110979008 UMLS_CUI:C0162823 irritant contact dermatitis primary irritant dermatitis disease_ontology DOID:2772 irritant dermatitis DOID:2772 A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation. url:https://www.dermcoll.edu.au/atoz/irritant-contact-dermatitis-icd/ ICD10CM:L25.9 MESH:D003877 NCI:C26743 SNOMEDCT_US_2023_03_01:156338009 UMLS_CUI:C0011616 Contact dermatitis/eczema Contact eczema Dermatitis, venenata dermatitis venenata disease_ontology DOID:2773 contact dermatitis DOID:2773 An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation. MESH:D050398 MIM:102660 NCI:C7644 SNOMEDCT_US_2023_03_01:56763007 UMLS_CUI:C0334556 disease_ontology DOID:2775 OMIM mapping confirmed by DO. [SN]. long bone adamantinoma DOID:2775 An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation. url:http://atlasgeneticsoncology.org/Tumors/AdamantinID5154.html A bone cancer that is located_in almost exclusively in the long bones. MESH:D050398 NCI:C7644 ORDO:55881 SNOMEDCT_US_2023_03_01:56763007 UMLS_CUI:C0334556 adamantinoma of long bones disease_ontology DOID:2776 adamantinoma MESH:D050398 DOID:2776 A bone cancer that is located_in almost exclusively in the long bones. url:https://www.ncbi.nlm.nih.gov/pubmed/30844202 malignant neoplasm of short bone of upper limb disease_ontology DOID:2777 obsolete malignant neoplasm of short bones of upper limb true DOID:2777 disease_ontology DOID:2778 obsolete tumors of body of uterus, with delivery true DOID:2778 disease_ontology DOID:2779 obsolete tumors of body of uterus complicating pregnancy, childbirth, or the puerperium true DOID:2779 NCI:C4877 SNOMEDCT_US_2023_03_01:126848003 UMLS_CUI:C0345873 Rectosigmoid tumor neoplasm of rectosigmoid junction rectosigmoid neoplasm disease_ontology DOID:2780 rectosigmoid junction neoplasm DOID:2780 NCI:C7421 UMLS_CUI:C1327709 disease_ontology DOID:2781 rectosigmoid cancer DOID:2781 ICD10CM:C19 ICD9CM:154.0 NCI:C7420 SNOMEDCT_US_2023_03_01:363414004 UMLS_CUI:C0153443 malignant Rectosigmoid tumor malignant neoplasm of rectosigmoid malignant neoplasm of rectosigmoid junction malignant tumor of rectosigmoid junction disease_ontology DOID:2782 rectosigmoid junction cancer DOID:2782 A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin. NCI:C4860 UMLS_CUI:C0598790 pulmonary sarcoma disease_ontology DOID:2784 lung sarcoma DOID:2784 A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin. url:https://www.sciencedirect.com/topics/medicine-and-dentistry/lung-sarcoma A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. GARD:6242 ICD10CM:Q03.1 MESH:D003616 MIM:220200 NCI:C75012 SNOMEDCT_US_2023_03_01:14447001 UMLS_CUI:C0010964 Atresia of foramina of Magendie and Luschka disease_ontology DOID:2785 OMIM mapping confirmed by DO. [SN]. Dandy-Walker syndrome DOID:2785 A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. url:http://omim.org/entry/220200 url:https://en.wikipedia.org/wiki/Dandy-Walker_syndrome url:https://ghr.nlm.nih.gov/condition/dandy-walker-malformation A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome. MESH:D002526 SNOMEDCT_US_2023_03_01:267691001 UMLS_CUI:C0007760 disease_ontology DOID:2786 cerebellar disease DOID:2786 A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome. url:https://en.wikipedia.org/wiki/Cerebellum url:https://www.ncbi.nlm.nih.gov/pubmed/15377747 An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia. disease_ontology DOID:2788 obsolete Ciliophora infectious disease true DOID:2788 An Alveolata infectious disease that involves infection caused by the members of the phylum Ciliophora, which are characterized by the presence of hair-like organelles called cilia. url:http://en.wikipedia.org/wiki/Ciliate A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes. DOID:0060003 DOID:10553 DOID:3734 DOID:3804 DOID:947 ICD10CM:B64 MESH:D011528 NCI:C34953 SNOMEDCT_US_2023_03_01:95896000 UMLS_CUI:C0033740 mastigophora infectious disease sarcomastigophora infectious disease disease_ontology DOID:2789 parasitic protozoa infectious disease DOID:2789 A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes. url:http://en.wikipedia.org/wiki/Protozoan url:http://en.wikipedia.org/wiki/Protozoan_infection A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching. DOID:13048 ICD10CM:B76.1 MESH:D009332 NCI:C34838 SNOMEDCT_US_2023_03_01:36667009 UMLS_CUI:C0027528 disease_ontology DOID:2790 necatoriasis DOID:2790 A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching. url:http://en.wikipedia.org/wiki/Necator_americanus A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria. DOID:10954 ancylostomiasis and necatoriasis disease_ontology DOID:2791 obsolete hookworm infectious disease true DOID:2791 A Strongylida infectious disease that involves infection of the small intestine of mammals, cats and dogs by the parasitic nematodes of genus Ancylostoma, Necator and Uncinaria. url:http://en.wikipedia.org/wiki/Hookworm url:http://www.dpd.cdc.gov/dpdx/HTML/Hookworm.htm A pneumonia located_in the lung parenchyma of unknown cause. ICD10CM:J84.114 MESH:D000080203 SNOMEDCT_US_2023_03_01:129459004 UMLS_CUI:C0085786 Diffuse idiopathic pulmonary fibrosis Idiopathic fibrosing alveolitis disease_ontology IPF DOID:2797 idiopathic interstitial pneumonia DOID:2797 A pneumonia located_in the lung parenchyma of unknown cause. url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh url:https://www.ncbi.nlm.nih.gov/pubmed/11790668 IPF A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults. GARD:9551 MESH:D001989 NCI:C62580 SNOMEDCT_US_2023_03_01:40100001 UMLS_CUI:C0006272 Bronchiolitis exudativa Bronchiolitis fibrosa obliterans Obliterative bronchiolitis disease_ontology DOID:2799 bronchiolitis obliterans DOID:2799 A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults. url:https://www.merriam-webster.com/medical/bronchiolitis%20obliterans A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. ICD10CM:E34.9 ICD9CM:259.9 MESH:D004700 NCI:C3009 SNOMEDCT_US_2023_03_01:67432001 UMLS_CUI:C0014130 disease_ontology DOID:28 endocrine system disease DOID:28 A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. url:http://en.wikipedia.org/wiki/Endocrine_system tuberculosis of ear disease_ontology DOID:280 obsolete ear tuberculosis true DOID:280 A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure. GARD:12835 ICD10CM:J84.114 ICD9CM:516.33 NCI:C35806 ORDO:79126 SNOMEDCT_US_2023_03_01:129459004 UMLS_CUI:C1279945 AIP Hamman-Rich disease Hamman-Rich syndrome Idiopathic pulmonary fibrosis, acute fatal form accelerated interstitial pneumonia acute interstitial pneumonitis disease_ontology DOID:2800 acute interstitial pneumonia DOID:2800 A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure. url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh url:https://www.ncbi.nlm.nih.gov/pubmed/11790668 AIP An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur. NCI:C35717 SNOMEDCT_US_2023_03_01:129452008 UMLS_CUI:C1290344 NSIP disease_ontology DOID:2801 nonspecific interstitial pneumonia DOID:2801 An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur. url:http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh NSIP disease_ontology DOID:2809 obsolete primary Bartonellaceae infectious disease true DOID:2809 A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection. MESH:D008878 SNOMEDCT_US_2023_03_01:28295001 UMLS_CUI:C0026069 disease_ontology DOID:2810 middle lobe syndrome MESH:D008878 DOID:2810 A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection. url:http://www.thepcrj.org/journ/aop/pcrj-2008-09-0085.pdf ICD10CM:C72.4 NCI:C4539 SNOMEDCT_US_2023_03_01:93660000 UMLS_CUI:C0346331 malignant tumor of acoustic vestibular nerve malignant tumor of the Vestibulocochlear nerve malignant tumour of acoustic vestibular nerve disease_ontology DOID:2814 malignant neoplasm of acoustic nerve DOID:2814 A central nervous system cancer that affects a cranial nerve, develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells. DOID:338 ICD10CM:C72.50 ICD9CM:192.0 MESH:D003390 NCI:C2963 NCI:C3571 SNOMEDCT_US_2023_03_01:126966009 SNOMEDCT_US_2023_03_01:188311003 UMLS_CUI:C0010267 UMLS_CUI:C0153644 malignant neoplasm of cranial nerve malignant tumor of cranial nerve malignant tumor of the Cranial nerve disease_ontology DOID:2815 cranial nerve malignant neoplasm DOID:2815 A central nervous system cancer that affects a cranial nerve, develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells. url:https://link.springer.com/chapter/10.1007/978-3-642-02874-8_15 NCI:C6995 SNOMEDCT_US_2023_03_01:93929003 UMLS_CUI:C0686417 IIIrd Cranial nerve neoplasm, malignant primary malignant neoplasm of oculomotor nerve disease_ontology DOID:2816 malignant oculomotor nerve tumor DOID:2816 NCI:C6994 SNOMEDCT_US_2023_03_01:126969002 UMLS_CUI:C1263895 Oculomotor nerve tumor Oculomotor nerve tumour cranial nerve III tumour neoplasm of oculomotor nerve disease_ontology DOID:2817 cranial nerve III tumor DOID:2817 MESH:D009668 SNOMEDCT_US_2023_03_01:89488007 UMLS_CUI:C0028432 disorder of the nose nasal disorder disease_ontology DOID:2825 nose disease DOID:2825 A cholecystitis characterized by the absence of gallstones. DOID:2827 MESH:D042101 NCI:C35578 SNOMEDCT_US_2023_03_01:19968009 UMLS_CUI:C0267841 acute acalculous cholecystitis acute cholecystitis without calculus cholecystitis without calculus disease_ontology DOID:2828 acalculous cholecystitis MESH:D042101 DOID:2828 A cholecystitis characterized by the absence of gallstones. url:https://pubmed.ncbi.nlm.nih.gov/30487697/ url:https://pubmed.ncbi.nlm.nih.gov/34657038/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362504/ Leukemic reticuloendotheliosis involving intra-abdominal lymph nodes Leukemic reticuloendotheliosis of intra-abdominal lymph nodes (disorder) Leukemic reticuloendotheliosis of intra-abdominal lymph nodes [dup] (disorder) disease_ontology DOID:283 obsolete leukemic reticuloendotheliosis of intra-abdominal lymph nodes true DOID:283 An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people. ICD10CM:B48.3 MESH:D005847 SNOMEDCT_US_2023_03_01:187105008 UMLS_CUI:C0017455 disease_ontology DOID:2832 geotrichosis DOID:2832 An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people. url:https://pubmed.ncbi.nlm.nih.gov/35018329/ NCI:C27310 UMLS_CUI:C0856815 disease_ontology DOID:2833 dehydration polycythemia DOID:2833 ICD10CM:D75.1 ICD9CM:289.0 NCI:C27178 SNOMEDCT_US_2023_03_01:154835002 UMLS_CUI:C1318533 Polycythemia, secondary secondary polycythemia disease_ontology DOID:2834 acquired polycythemia DOID:2834 NCI:C27312 UMLS_CUI:C0856818 disease_ontology DOID:2835 polycythemia due to hypoxia DOID:2835 ICD10CM:D75.1 NCI:C27174 SNOMEDCT_US_2023_03_01:191371001 UMLS_CUI:C0541719 Gaisbock's syndrome Polycythemia, emotional disease_ontology DOID:2838 stress polycythemia DOID:2838 ICD10CM:D75.1 NCI:C35434 SNOMEDCT_US_2023_03_01:367328005 UMLS_CUI:C0391869 Nephrogenous polycythemia Polycythaemia due to Excess Erythropoetin Production Polycythemia due to excess erythopoetin production Polycythemia, nephrogenous secondary polycythemia with excess erythropoietin disease_ontology DOID:2839 erythropoietin polycythemia DOID:2839 malignant tumor of abdomen (disorder) disease_ontology DOID:284 obsolete malignant neoplasm of abdomen true DOID:284 A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. DOID:12703 DOID:13829 DOID:13830 DOID:2840 DOID:5783 GARD:10246 ICD10CM:J45 ICD9CM:493 KEGG:05310 MESH:D001249 MIM:600807 NCI:C28397 SNOMEDCT_US_2023_03_01:187687003 UMLS_CUI:C0004096 bronchial hyperreactivity chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive asthma with status asthmaticus disease_ontology DOID:2841 Xref MGI. asthma MESH:D001249 DOID:2841 A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. url:http://www.nhlbi.nih.gov/health/dci/Diseases/Asthma/Asthma_WhatIs.html url:https://www.ncbi.nlm.nih.gov/books/NBK430901/ url:https://www.ncbi.nlm.nih.gov/books/NBK7223/ GARD:3048 MESH:D029593 MIM:220400 MIM:612347 NCI:C84793 SNOMEDCT_US_2023_03_01:49518001 UMLS_CUI:C0022387 Jervell and Lange-Nielson syndrome disease_ontology DOID:2842 OMIM mapping confirmed by DO. [SN]. Jervell-Lange Nielsen syndrome DOID:2842 An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). DOID:4069 GARD:6922 ICD10CM:I45.81 ICD9CM:426.82 MESH:D008133 MIM:PS192500 NCI:C34786 ORDO:768 SNOMEDCT_US_2023_03_01:9651007 UMLS_CUI:C0023976 LQT long Q-T syndrome Romano-Ward syndrome disease_ontology DOID:2843 OMIM mapping confirmed by DO. [SN]. long QT syndrome ORDO:101016 DOID:2843 An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). url:http://en.wikipedia.org/wiki/Long_QT_syndrome LQT A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. DOID:8891 ICD10CM:F45.8 ICD10CM:G47.63 ICD9CM:327.53 MESH:D002012 MESH:D020186 NCI:C73511 SNOMEDCT_US_2023_03_01:274950005 SNOMEDCT_US_2023_03_01:90207007 UMLS_CUI:C0006325 UMLS_CUI:C0393774 Bruxism - teeth grinding Grinding teeth Teeth grinding sleep related bruxism disease_ontology DOID:2846 bruxism DOID:2846 A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. url:http://en.wikipedia.org/wiki/Bruxism disease_ontology DOID:2848 obsolete melancholia true DOID:2848 A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope. GARD:6560 ICD10CM:C91.4 ICD9CM:202.4 ICDO:9940/3 MESH:D007943 NCI:C7402 SNOMEDCT_US_2023_03_01:118613001 UMLS_CUI:C0023443 disease_ontology DOID:285 hairy cell leukemia DOID:285 A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope. url:https://en.wikipedia.org/wiki/Hairy_cell_leukemia url:https://www.mayoclinic.org/diseases-conditions/hairy-cell-leukemia/symptoms-causes/syc-20372956 url:https://www.ncbi.nlm.nih.gov/pubmed/30723113 Hypoplasia of thyroid (disorder) Hypoplasia of thyroid (disorder) [Ambiguous] Thyroid Atrophy Thyroid atrophy (disorder) disease_ontology DOID:2853 obsolete atrophy of thyroid true DOID:2853 A thyroid gland disease that is characterized by elevated thyroxine levels in the blood. MESH:D006981 NCI:C131850 UMLS_CUI:C0020551 disease_ontology DOID:2855 hyperthyroxinemia MESH:D006981 DOID:2855 A thyroid gland disease that is characterized by elevated thyroxine levels in the blood. url:https://en.wikipedia.org/wiki/Hyperthyroxinemia ICD10CM:E07.81 ICD9CM:790.94 MESH:D005067 NCI:C113170 SNOMEDCT_US_2023_03_01:237542005 UMLS_CUI:C0015190 Sick-euthyroid syndrome disease_ontology DOID:2856 euthyroid sick syndrome DOID:2856 Thyroid gland abscess abscess of thyroid (disorder) disease_ontology DOID:2857 obsolete abscess of thyroid true DOID:2857 GARD:2640 ICD10CM:D58.2 MESH:D006445 NCI:C34675 SNOMEDCT_US_2023_03_01:51053007 UMLS_CUI:C0019021 Hb-C disease disease_ontology DOID:2859 hemoglobin C disease DOID:2859 GARD:12455 ICD10CM:D58.2 MESH:D006453 NCI:C3092 SNOMEDCT_US_2023_03_01:154794008 UMLS_CUI:C0019045 hemoglobinopathies disease_ontology DOID:2860 hemoglobinopathy DOID:2860 MESH:D000746 MIM:206300 MIM:206400 MIM:PS300908 ORDO:712 SNOMEDCT_US_2023_03_01:82775009 UMLS_CUI:C0002882 HNSHA congenital nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anaemia hereditary nonspherocytic hemolytic anemia disease_ontology DOID:2861 Xref MGI. OMIM mapping by NeuroDevNet. [LS]. congenital nonspherocytic hemolytic anemia DOID:2861 HNSHA A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). GARD:6520 MESH:D005955 NCI:C98933 SNOMEDCT_US_2023_03_01:124134002 UMLS_CUI:C2939465 Glucose-6-phosphate dehydrogenase deficiency deficiency of G-6PD disease_ontology DOID:2862 glucosephosphate dehydrogenase deficiency DOID:2862 A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). url:http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency disease_ontology visual disorder DOID:287 obsolete vision disorder true DOID:287 An endometrial carcinoma that derives_from epithelial cells of glandular origin. DOID:5827 DOID:6650 NCI:C6287 NCI:C6290 NCI:C7359 SNOMEDCT_US_2023_03_01:123845008 SNOMEDCT_US_2023_03_01:1260086007 UMLS_CUI:C0279763 UMLS_CUI:C1153706 UMLS_CUI:C1336905 adenocarcinoma of endometrium adenocarcinoma of the Endometrium adenocarcinoma of uterus endometrial adenoacanthoma endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma with squamous differentiation endometrioid adenoma or carcinoma endometrioid adenomas and carcinomas endometrioid carcinoma of Endometrium disease_ontology DOID:2870 endometrial adenocarcinoma DOID:2870 An endometrial carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A endometrial cancer that is located_in the tissue lining the uterus. DOID:3000 MESH:D016889 MESH:D018269 NCI:C7558 SNOMEDCT_US_2023_03_01:30289006 SNOMEDCT_US_2023_03_01:93781006 UMLS_CUI:C0206687 UMLS_CUI:C0476089 carcinoma of the Endometrium endometrioid carcinoma endometrioid carcinoma of female Reproductive system disease_ontology DOID:2871 OMIM mapping confirmed by DO. [SN]. endometrial carcinoma DOID:2871 A endometrial cancer that is located_in the tissue lining the uterus. url:http://www.cancer.gov/cancertopics/types/endometrial disease_ontology DOID:2873 obsolete metastatic tumor to the larynx true DOID:2873 metastatic tumor to the neck disease_ontology DOID:2874 obsolete metastasis to the neck true DOID:2874 A laryngeal carcinoma that has_material_basis_in squamous cells. MESH:D000077195 NCI:C4044 SNOMEDCT_US_2023_03_01:707358000 UMLS_CUI:C0280324 Epidermoid carcinoma of the Larynx squamous cell carcinoma of larynx disease_ontology DOID:2876 laryngeal squamous cell carcinoma DOID:2876 A laryngeal carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. NCI:C6020 UMLS_CUI:C1334377 sarcoma of larynx disease_ontology DOID:2877 larynx sarcoma DOID:2877 A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. url:https://www.sciencedirect.com/science/article/pii/S1726490109701893 disease_ontology DOID:2878 obsolete throat carcinoma true DOID:2878 ICD10CM:H18.45 ICD9CM:371.46 SNOMEDCT_US_2023_03_01:72620002 UMLS_CUI:C0155122 disease_ontology DOID:2879 nodular degeneration of cornea DOID:2879 A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium. ICD10CM:N80.0 ICD9CM:617.0 MIM:600458 SNOMEDCT_US_2023_03_01:76376003 UMLS_CUI:C0341858 Endometriosis interna Endometriosis of myometrium Endometriosis, myometrium adenomyosis uterine Adenomyosis disease_ontology DOID:288 OMIM mapping confirmed by DO. [SN]. endometriosis of uterus DOID:288 A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium. url:https://en.wikipedia.org/wiki/Endometriosis A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema. disease_ontology DOID:2880 obsolete Hantavirus infectious disease true DOID:2880 A viral infectious disease that results_in infection, located_in lungs or located_in kidney, has_material_basis_in Hantavirus, which is transmitted_by rodents. The infection has_symptom renal failure, has_symptom hemorrhagic manifestations, and has_symptom pulmonary edema. url:http://en.wikipedia.org/wiki/Hantavirus_pulmonary_syndrome#Hantavirus_.28cardio-.29pulmonary_syndrome Cysts of iris, ciliary body and anterior chamber (disorder) Cysts of iris, ciliary body and anterior chamber NOS (disorder) Cysts of iris, ciliary body, and anterior chamber disease_ontology DOID:2882 obsolete Cysts of iris, ciliary body and anterior chamber true DOID:2882 A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate. MESH:D011470 NCI:C4795 SNOMEDCT_US_2023_03_01:21173002 UMLS_CUI:C0520477 adenoma - prostate adenoma of prostate benign adenoma of prostate prostate adenoma disease_ontology DOID:2883 prostatic adenoma DOID:2883 A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate. url:https://pubmed.ncbi.nlm.nih.gov/33102081/ url:https://www.ncbi.nlm.nih.gov/pubmed/24649766 DOID:2886 NCI:C5532 NCI:C7574 UMLS_CUI:C1332535 UMLS_CUI:C1335409 Phyllodes neoplasm of the prostate benign Phyllodes neoplasm of the prostate benign prostate phyllodes tumour prostate phyllodes tumor prostate phyllodes tumour disease_ontology DOID:2885 benign prostate phyllodes tumor DOID:2885 A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate. NCI:C5544 UMLS_CUI:C1335510 Prostatic leiomyoma disease_ontology DOID:2887 prostate leiomyoma DOID:2887 A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037125/ MESH:D012181 UMLS_CUI:C0035352 disease_ontology DOID:2889 retrocochlear disease DOID:2889 A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body. EFO:0001065 ICD10CM:N80 ICD9CM:617 MESH:D004715 NCI:C3014 SNOMEDCT_US_2023_03_01:11871002 UMLS_CUI:C0014175 disease_ontology DOID:289 endometriosis DOID:289 A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body. url:https://en.wikipedia.org/?title=Endometriosis url:https://www.ncbi.nlm.nih.gov/pubmed/20574791 disease_ontology DOID:2890 obsolete primary Klebsiella infectious disease true DOID:2890 An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells. MESH:D013964 NCI:C3502 SNOMEDCT_US_2023_03_01:189174004 UMLS_CUI:C0151468 adenoma of thyroid gland disease_ontology DOID:2891 thyroid adenoma DOID:2891 An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells. url:https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/thyroid-adenoma A cervix carcinoma that is located_in the exocervix. NCI:C7453 SNOMEDCT_US_2023_03_01:372100004 UMLS_CUI:C1299238 carcinoma of exocervix carcinoma of the Exocervix disease_ontology DOID:2892 exocervical carcinoma DOID:2892 A cervix carcinoma that is located_in the exocervix. url:https://www.ncbi.nlm.nih.gov/pubmed/14675699 A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C9039 SNOMEDCT_US_2023_03_01:285432005 UMLS_CUI:C0302592 cancer of cervix carcinoma cervix uteri carcinoma of cervix carcinoma of the Cervix Uteri disease_ontology DOID:2893 OMIM mapping confirmed by DO. [SN]. cervix carcinoma DOID:2893 A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Cervical_cancer Streptococcal infection, unspecified (disorder) Streptococcal infectious disease (disorder) Streptococcus infection disease_ontology DOID:2898 obsolete commensal streptococcal infectious disease true DOID:2898 E Coli Infection Escherichia coli infection Infection due to Escherichia coli (disorder) disease_ontology DOID:2905 obsolete commensal Escherichia coli infectious disease true DOID:2905 A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips. disease_ontology DOID:2906 obsolete Rhabditida infectious disease true DOID:2906 A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Rhabditida, characterized by oral aperture with 2, 3 or 6 lips. url:http://en.wikipedia.org/wiki/Rhabditida A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. GARD:6540 ICD10CM:Q87.0 MESH:D006053 MIM:164210 NCI:C84740 ORDO:374 SNOMEDCT_US_2023_03_01:46567003 UMLS_CUI:C0265240 Facio-auriculo-vertebral spectrum First AND second branchial arch syndrome First arch syndrome HEMIFACIAL MICROSOMIA OAV (oculoauriculovertebral) dysplasia Otomandibular dysostosis disease_ontology DOID:2907 OMIM mapping confirmed by DO. [SN]. Goldenhar syndrome DOID:2907 A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. url:http://en.wikipedia.org/wiki/Goldenhar_syndrome url:http://www.healthline.com/galecontent/goldenhar-syndrome url:https://www.faces-cranio.org/goldenhar A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. GARD:9124 ICD10CM:Q75.4 MESH:D008342 MIM:PS154500 NCI:C75018 SNOMEDCT_US_2023_03_01:205416009 UMLS_CUI:C0242387 Franceschetti syndrome mandibulofacial dysostosis disease_ontology DOID:2908 OMIM mapping confirmed by DO. [SN]. Treacher Collins syndrome MESH:D008342 DOID:2908 A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. url:https://www.ncbi.nlm.nih.gov/books/NBK1532/ Septic abortion (disorder) abortion with sepsis disease_ontology DOID:2910 obsolete septic abortion true DOID:2910 A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. DOID:2912 ICD10CM:K85 ICD9CM:577.0 MESH:D010195 NCI:C95437 SNOMEDCT_US_2023_03_01:39726008 UMLS_CUI:C0001339 disease_ontology DOID:2913 acute pancreatitis DOID:2913 A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. url:https://www.nhs.uk/conditions/acute-pancreatitis/ A disease of anatomical entity that is located_in the immune system. EFO:0000540 ICD10CM:D89.9 ICD9CM:279.9 SNOMEDCT_US_2023_03_01:154782004 UMLS_CUI:C0041806 disease_ontology DOID:2914 immune system disease DOID:2914 A disease of anatomical entity that is located_in the immune system. url:http://en.wikipedia.org/wiki/Immune_system A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response. ICD10CM:C88.9 MESH:D007160 SNOMEDCT_US_2023_03_01:127071007 UMLS_CUI:C0021070 disease_ontology immunoproliferative disease DOID:2916 hypersensitivity reaction type IV disease DOID:2916 A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response. url:https://en.wikipedia.org/wiki/Type_IV_hypersensitivity A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures. GARD:6217 ICD10CM:D89.1 MESH:D003449 NCI:C26736 SNOMEDCT_US_2023_03_01:30911005 UMLS_CUI:C0010403 Cryoimmunoglobulinaemia disease_ontology DOID:2917 cryoglobulinemia DOID:2917 A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures. url:http://en.wikipedia.org/wiki/Cryoglobulinemia url:http://www.nlm.nih.gov/medlineplus/ency/article/000540.htm ls:IEDB A hypersensitivity reaction type IV disease that results from the presence of excessive amounts of a single monoclonal gammaglobulin in the blood. Paraproteinaemia Paraproteinemia Paraproteinemia (disorder) Paraproteinemia NOS (disorder) paraproteinemia disease_ontology DOID:2918 obsolete paraproteinemia true DOID:2918 A hypersensitivity reaction type IV disease that results from the presence of excessive amounts of a single monoclonal gammaglobulin in the blood. url:http://en.wikipedia.org/wiki/Paraproteinemia NCI:C5102 SNOMEDCT_US_2023_03_01:416510003 UMLS_CUI:C1334361 lacrimal system neoplasm neoplasm of lacrimal system tumor of the lacrimal system disease_ontology DOID:292 lacrimal system cancer DOID:292 GARD:11982 MESH:D015432 MIM:305800 NCI:C34644 SNOMEDCT_US_2023_03_01:80321008 UMLS_CUI:C0017662 Lobular glomerulonephritis chronic glomerulonephritis, lobular disease_ontology DOID:2920 membranoproliferative glomerulonephritis DOID:2920 A nephritis that causes inflammation of the glomeruli located_in kidney. GARD:6516 ICD10CM:N08 MESH:D005921 NCI:C26784 SNOMEDCT_US_2023_03_01:36171008 UMLS_CUI:C0017658 disease_ontology DOID:2921 glomerulonephritis DOID:2921 A nephritis that causes inflammation of the glomeruli located_in kidney. url:http://en.wikipedia.org/wiki/Glomerulonephritis sn:IEDB A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. ICD10CM:Q87.2 MESH:D007715 MIM:149000 NCI:C84801 ORDO:90308 SNOMEDCT_US_2023_03_01:59078009 UMLS_CUI:C0022739 Haemangiectatic hypertrophy Klippel-Trenaunay-Weber syndrome angioosteohypertrophy syndrome disease_ontology DOID:2926 OMIM mapping confirmed by DO. [SN]. Klippel-Trenaunay syndrome DOID:2926 A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. url:http://en.wikipedia.org/wiki/Klippel%E2%80%93Tr%C3%A9naunay_syndrome url:http://omim.org/entry/149000 A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus (Orthoavulavirus javaense), which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. MESH:D009521 NCI:C34849 SNOMEDCT_US_2023_03_01:258300000 UMLS_CUI:C0027983 Newcastle's disease Pseudo-fowlpest disease_ontology DOID:2929 Newcastle disease DOID:2929 A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus (Orthoavulavirus javaense), which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. url:https://en.wikipedia.org/wiki/Virulent_Newcastle_disease url:https://www.agric.wa.gov.au/livestock-biosecurity/newcastle-disease url:https://www.ncbi.nlm.nih.gov/articles/PMC1526237/ url:https://www.ncbi.nlm.nih.gov/articles/PMC1822603/ NCI:C6129 UMLS_CUI:C1334358 carcinoma of the lacrimal gland disease_ontology DOID:293 lacrimal gland carcinoma DOID:293 A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes. disease_ontology DOID:2930 obsolete Avulavirus infectious disease true DOID:2930 A Paramyxoviridae infectious disease that results_in infection in birds and rarely humans, has_material_basis_in Avulavirus, which is transmitted_by direct contact with droppings and secretions from the nose, mouth, and eyes. url:http://www.expasy.ch/viralzone/all_by_species/84.html A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease parvovirus (Amdoparvovirus carnivoran1, Amdoparvovirus carnivoran9, or Amdoparvovirus carnivoran10). The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia. MESH:D000453 SNOMEDCT_US_2023_03_01:62251004 UMLS_CUI:C0002016 Aleutian disease disease_ontology DOID:2934 aleutian mink disease MESH:D000453 DOID:2934 A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease parvovirus (Amdoparvovirus carnivoran1, Amdoparvovirus carnivoran9, or Amdoparvovirus carnivoran10). The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia. url:http://en.wikipedia.org/wiki/Aleutian_Disease url:http://www.cdc.gov/eid/content/15/12/2040.htm url:https://pmc.ncbi.nlm.nih.gov/articles/PMC3044528/ A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42. GARD:6035 ICD10CM:E70.330 MESH:D002609 MIM:214500 NCI:C2941 ORDO:167 SNOMEDCT_US_2023_03_01:111396008 UMLS_CUI:C0007965 CHS Chediak - Steinbrinck anomaly disease_ontology DOID:2935 OMIM mapping confirmed by DO. [SN]. Chediak-Higashi syndrome DOID:2935 A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42. url:http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/25129365 CHS A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses. disease_ontology DOID:2936 obsolete Parvoviridae infectious disease true DOID:2936 A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses. url:http://en.wikipedia.org/wiki/Parvoviridae A Herpesviridae infectious disease that results_in infection, has_material_basis_in Human herpesvirus 8. disease_ontology DOID:2937 obsolete Human herpesvirus 8 infectious disease true DOID:2937 A Herpesviridae infectious disease that results_in infection, has_material_basis_in Human herpesvirus 8. url:http://www.abcam.com/index.html?pageconfig=resource&rid=11811&pid=11320 A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4 (Lymphocryptovirus humangamma4). MESH:D020031 NCI:C38759 SNOMEDCT_US_2023_09_01:240530001 UMLS_CUI:C0149678 EBV Infection Epstein-Barr virus infection disease_ontology DOID:2938 Epstein-Barr virus infectious disease MESH:D020031 NCI:C38759 SNOMEDCT_US_2023_09_01:240530001 UMLS_CUI:C0149678 DOID:2938 A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4 (Lymphocryptovirus humangamma4). url:https://en.wikipedia.org/wiki/Epstein%E2%80%93Barr_virus_infection url:https://www.cdc.gov/epstein-barr/about/ url:https://www.ncbi.nlm.nih.gov/books/NBK559285/ A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses. Herpesviridae disease Herpesvirus infection (disorder) disease_ontology DOID:2939 obsolete Herpesviridae infectious disease true DOID:2939 A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Herpesviridae viruses. url:http://en.wikipedia.org/wiki/Herpesviridae DOID:291 ICD9CM:190.2 NCI:C3563 NCI:C4360 SNOMEDCT_US_2023_03_01:127004000 SNOMEDCT_US_2023_03_01:188271007 UMLS_CUI:C0153627 UMLS_CUI:C0339124 malignant neoplasm of lacrimal gland malignant tumour of lacrimal gland neoplasm of lacrimal gland tumor of the lacrimal gland disease_ontology DOID:294 lacrimal gland cancer DOID:294 A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen. MESH:D001988 NCI:C39658 SNOMEDCT_US_2023_03_01:4120002 UMLS_CUI:C0006271 disease_ontology DOID:2942 bronchiolitis DOID:2942 A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen. url:http://en.wikipedia.org/wiki/Bronchiolitis A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Poxviridae viruses. Poxviridae disease disease due to unassigned Poxviridae (disorder) disease_ontology DOID:2943 obsolete Poxviridae infectious disease true DOID:2943 A dsDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Poxviridae viruses. url:http://en.wikipedia.org/wiki/Poxviridae A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia. GARD:9237 ICD10CM:J12.81 ICD9CM:079.82 MESH:D045169 NCI:C85064 SNOMEDCT_US_2023_03_01:398447004 UMLS_CUI:C1175175 SARS SARS-CoV infection disease_ontology DOID:2945 severe acute respiratory syndrome DOID:2945 A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia. url:http://en.wikipedia.org/wiki/Severe_acute_respiratory_syndrome url:https://www.merriam-webster.com/dictionary/SARS#medicalDictionary url:https://www.ncbi.nlm.nih.gov/books/NBK558977/ SARS A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food. disease_ontology DOID:2946 obsolete coronavirus infectious disease true DOID:2946 A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food. url:http://en.wikipedia.org/wiki/Coronavirus A Flavivirus infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by mosquito bites. The infection has_symptom fever, has_symptom severe headache, has_symptom back pain, has_symptom muscle ache, has_symptom nausea, and has_symptom weakness. disease_ontology DOID:2947 obsolete Yellow fever virus infectious disease true DOID:2947 A Flavivirus infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by mosquito bites. The infection has_symptom fever, has_symptom severe headache, has_symptom back pain, has_symptom muscle ache, has_symptom nausea, and has_symptom weakness. url:http://www.cdc.gov/ncidod/dvbid/yellowfever/YF_Symptoms.html A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food. disease_ontology DOID:2948 obsolete Coronaviridae infectious disease true DOID:2948 A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food. url:http://en.wikipedia.org/wiki/Coronaviridae A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses. disease_ontology DOID:2949 obsolete Nidovirales infectious disease true DOID:2949 A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Nidovirales viruses. url:http://en.wikipedia.org/wiki/Nidovirales An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye. NCI:C6079 UMLS_CUI:C0848866 Ocular carcinoma disease_ontology carcinoma of eye DOID:295 eye carcinoma DOID:295 An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye. url:http://www.cancer.gov/dictionary/?CdrID=444991 A Reoviridae infectious disease that results_in infection in vertebrates, has_material_basis_in Orbivirus, which is transmitted_by mosquitoes, transmitted_by midges, transmitted_by gnats, transmitted_by sandflies, and transmitted_by ticks. disease_ontology DOID:2950 obsolete Orbivirus infectious disease true DOID:2950 A Reoviridae infectious disease that results_in infection in vertebrates, has_material_basis_in Orbivirus, which is transmitted_by mosquitoes, transmitted_by midges, transmitted_by gnats, transmitted_by sandflies, and transmitted_by ticks. url:http://en.wikipedia.org/wiki/Orbivirus ICD10CM:T75.3 ICD9CM:994.6 MESH:D009041 MIM:158280 NCI:C34824 SNOMEDCT_US_2023_03_01:37031009 UMLS_CUI:C0026603 Travel Sickness disease_ontology DOID:2951 OMIM mapping confirmed by DO. [SN]. motion sickness DOID:2951 An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium. ICD10CM:H83.9 MESH:D007759 NCI:C128369 NCI:C27166 SNOMEDCT_US_2023_03_01:194690003 SNOMEDCT_US_2023_03_01:20425006 UMLS_CUI:C0022890 UMLS_CUI:C0494559 labyrinthine disease disease_ontology DOID:2952 inner ear disease DOID:2952 An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium. url:https://www.merckmanuals.com/professional/ear,-nose,-and-throat-disorders/inner-ear-disorders/introduction-to-inner-ear-disorders disease_ontology DOID:2956 obsolete intra-abdominal lymphangioma true DOID:2956 A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis. ICD10CM:A15 ICD9CM:011 MESH:D014397 NCI:C26899 SNOMEDCT_US_2023_03_01:81483001 UMLS_CUI:C0041327 disease_ontology DOID:2957 pulmonary tuberculosis DOID:2957 A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis. url:http://www.cdc.gov/tb/publications/factsheets/general/tb.htm url:https://www.merriam-webster.com/dictionary/tuberculosis#medicalDictionary disease_ontology DOID:2958 obsolete environmental illness true DOID:2958 A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others. NCI:C27579 UMLS_CUI:C1334069 disease_ontology DOID:2959 hyperimmunoglobulin syndrome DOID:2959 A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others. url:https://ncithesaurus-stage.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27579 NCI:C6804 SNOMEDCT_US_2023_03_01:254989000 UMLS_CUI:C0346342 carcinoma Ex Pleomorphic adenoma of the lacrimal gland carcinoma ex pleomorphic adenoma of lacrimal gland malignant mixed neoplasm of lacrimal gland disease_ontology DOID:296 mixed lacrimal gland cancer DOID:296 A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight. MESH:D054463 NCI:C4924 SNOMEDCT_US_2021_09_01:723551003 IBIDS syndrome TTD-P Tay syndrome sulfur-deficient brittle hair syndrome trichothiodystrophy with congenital ichthyosis disease_ontology DOID:2960 OMIM mapping confirmed by DO. [SN]. photosensitive trichothiodystrophy DOID:2960 A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight. url:https://ghr.nlm.nih.gov/condition/trichothiodystrophy url:https://pubmed.ncbi.nlm.nih.gov/18603627/ TTD-P A monogenic disease that results from a reduced functionality of DNA repair. DNA Repair disorder deficiency of DNA repair (finding) disease_ontology DOID:2961 obsolete DNA repair deficiency true DOID:2961 A monogenic disease that results from a reduced functionality of DNA repair. url:http://en.wikipedia.org/wiki/DNA_repair-deficiency_disorder A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. GARD:6122 ICD10CM:Q87.19 MESH:D003057 NCI:C9460 ORDO:191 SNOMEDCT_US_2023_03_01:205832003 UMLS_CUI:C0009207 Neill-Dingwall syndrome disease_ontology Cockayne's syndrome DOID:2962 Xref MGI. OMIM mapping confirmed by DO. [SN]. Cockayne syndrome MESH:D003057 DOID:2962 A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. url:http://en.wikipedia.org/wiki/Cockayne_syndrome url:https://medlineplus.gov/genetics/condition/cockayne-syndrome/ url:https://www.ncbi.nlm.nih.gov/books/NBK1342/ ICD10CM:M77.9 MESH:D010489 SNOMEDCT_US_2023_03_01:50921008 UMLS_CUI:C0031037 disease_ontology DOID:2964 periarthritis DOID:2964 ICD10CM:M71.9 MESH:D002062 NCI:C94407 SNOMEDCT_US_2023_03_01:156677003 UMLS_CUI:C0006444 disease_ontology DOID:2965 bursitis DOID:2965 NCI:C4397 SNOMEDCT_US_2023_03_01:17264009 UMLS_CUI:C0344460 carcinoma ex pleomorphic adenoma carcinoma in pleomorphic adenoma disease_ontology DOID:297 pleomorphic adenoma carcinoma DOID:297 ICD10CM:N28.0 MESH:D012078 UMLS_CUI:C0035066 disease_ontology DOID:2972 renal artery obstruction DOID:2972 A kidney cortex disease that is characterized by death of the tissue in the outer part of the kidney that results from blockage of the small arteries that supply blood to the cortex and that causes acute kidney injury. ICD10CM:N17.1 MESH:D007673 SNOMEDCT_US_2023_03_01:444691002 UMLS_CUI:C0022656 renal cortical necrosis disease_ontology DOID:2973 kidney cortex necrosis DOID:2973 A kidney cortex disease that is characterized by death of the tissue in the outer part of the kidney that results from blockage of the small arteries that supply blood to the cortex and that causes acute kidney injury. url:https://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/blood-vessel-disorders-of-the-kidneys/cortical-necrosis-of-the-kidneys Multicystic dysplastic kidney Multicystic kidney Multicystic kidney (disorder) disease_ontology DOID:2974 obsolete multicystic dysplastic kidney true DOID:2974 MESH:D052177 UMLS_CUI:C0022679 renal Cyst disease_ontology DOID:2975 cystic kidney disease DOID:2975 disease_ontology DOID:2976 obsolete glomerular vascular disorder true DOID:2976 A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones. DOID:2979 ICD10CM:E72.53 ICD10CM:R82.992 MESH:D006959 MESH:D006960 MIM:PS259900 NCI:C123158 ORDO:416 SNOMEDCT_US_2023_03_01:190766003 SNOMEDCT_US_2023_03_01:367621000119107 UMLS_CUI:C0020500 UMLS_CUI:C0020501 disease_ontology DOID:2977 OMIM mapping confirmed by DO. [SN]. primary hyperoxaluria DOID:2977 A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones. url:https://ghr.nlm.nih.gov/condition/primary-hyperoxaluria url:https://www.ncbi.nlm.nih.gov/pubmed/27815184 An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. DOID:9434 MESH:D002239 NCI:C97089 ORDO:79161 UMLS_CUI:C0007001 UMLS_CUI:C0149670 disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism disease_ontology DOID:2978 carbohydrate metabolic disorder MESH:D002239 NCI:C97089 ORDO:79161 UMLS_CUI:C0007001 UMLS_CUI:C0149670 DOID:2978 An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. url:http://en.wikipedia.org/wiki/Inborn_errors_of_carbohydrate_metabolism A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin. NCI:C4541 SNOMEDCT_US_2023_03_01:254988008 UMLS_CUI:C0346341 disease_ontology adenocarcinoma of lacrimal gland DOID:298 lacrimal gland adenocarcinoma DOID:298 A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma disease_ontology DOID:2980 obsolete bone marrow tansplantation nephropathy true DOID:2980 MESH:D007681 SNOMEDCT_US_2023_03_01:90241004 UMLS_CUI:C0022667 Necrotizing renal papillitis Papillary necrosis renal PAPILLITIS NECROTIZING disease_ontology DOID:2981 kidney papillary necrosis DOID:2981 MESH:D010501 SNOMEDCT_US_2023_03_01:111404004 UMLS_CUI:C0031065 disease_ontology DOID:2982 perinephritis DOID:2982 MESH:D001002 NCI:C114699 SNOMEDCT_US_2023_03_01:139460001 UMLS_CUI:C0003460 Suppression of urinary secretion disease_ontology DOID:2983 anuria DOID:2983 CAN chronic rejection of renal transplant (disorder) disease_ontology DOID:2985 obsolete chronic rejection of renal transplant true DOID:2985 A glomerulonephritis characterized by build up of IgA antibody in the glomerulus. EFO:0004194 GARD:863 MESH:D005922 MIM:161950 NCI:C34643 SNOMEDCT_US_2023_03_01:236407003 UMLS_CUI:C0017661 Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis disease_ontology DOID:2986 OMIM mapping confirmed by DO. [SN]. IgA glomerulonephritis DOID:2986 A glomerulonephritis characterized by build up of IgA antibody in the glomerulus. url:http://en.wikipedia.org/wiki/IgA_nephropathy url:http://www.nlm.nih.gov/medlineplus/ency/article/000466.htm An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin. GARD:6421 ICD10CM:M04.1 ICD9CM:277.31 MESH:D010505 MIM:134610 MIM:249100 NCI:C84707 ORDO:342 SNOMEDCT_US_2023_03_01:12579009 UMLS_CUI:C0031069 FMF benign paroxysmal peritonitis disease_ontology DOID:2987 Xref MGI. OMIM mapping confirmed by DO. [SN]. familial Mediterranean fever DOID:2987 An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin. url:http://en.wikipedia.org/wiki/Familial_Mediterranean_fever url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/127/viewAbstract FMF An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). GARD:5824 ICD10CM:D68.61 MESH:D016736 MIM:107320 NCI:C61283 SNOMEDCT_US_2023_03_01:201450008 UMLS_CUI:C0085278 APS antiphospholipid antibody syndrome disease_ontology DOID:2988 OMIM mapping confirmed by DO. [SN]. antiphospholipid syndrome MESH:D016736 DOID:2988 An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). url:http://en.wikipedia.org/wiki/Antiphospholipid_syndrome url:https://www.genome.gov/Genetic-Disorders/Antiphospholipid-Syndrome ls:IEDB APS Prostatic Atypical small acinar Proliferation disease_ontology DOID:2989 obsolete Atypical small acinar proliferation of the prostate gland true DOID:2989 A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. ICDO:8140/3 MESH:D000230 NCI:C2852 SNOMEDCT_US_2023_03_01:35917007 UMLS_CUI:C0001418 disease_ontology DOID:299 adenocarcinoma MESH:D000230 DOID:299 A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. url:http://en.wikipedia.org/wiki/Adenocarcinoma disease_ontology DOID:2990 obsolete tumor of specialized prostatic stroma true DOID:2990 Stromal tumor (morphologic abnormality) stromal tumors disease_ontology DOID:2991 obsolete stromal neoplasm true DOID:2991 NCI:C5545 UMLS_CUI:C1335515 neuroendocrine tumor of the prostate disease_ontology DOID:2992 prostate neuroendocrine neoplasm DOID:2992 A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells. DOID:2157 MESH:D009373 NCI:C3708 SNOMEDCT_US_2023_03_01:302853003 UMLS_CUI:C0205851 malignant tumor of the germ cell disease_ontology germ cell neoplasm germ cell tumour DOID:2994 germ cell cancer DOID:2994 A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells. url:http://en.wikipedia.org/wiki/Germ_cell_tumor Ovarian mixed germ cell-Sex Cord tumor disease_ontology DOID:2995 obsolete ovarian mixed germ cell-sex cord neoplasm true DOID:2995 NCI:C5241 SNOMEDCT_US_2023_03_01:703601005 UMLS_CUI:C1321220 mixed germ cell-Sex Cord tumor mixed germ cell-sex cord-stromal tumor disease_ontology DOID:2996 mixed germ cell-sex cord neoplasm DOID:2996 A sex cord-gonadal stromal tumor characterized by variable proportions of Sertoli cells, Leydig cells, primitive gonadal stroma and/or heterologous elements located_in the ovaries and testicles. DOID:0050618 GARD:9967 MESH:D018310 SNOMEDCT_US_2023_03_01:34110004 UMLS_CUI:C0206723 disease_ontology DOID:2997 Sertoli-Leydig cell tumor DOID:2997 A sex cord-gonadal stromal tumor characterized by variable proportions of Sertoli cells, Leydig cells, primitive gonadal stroma and/or heterologous elements located_in the ovaries and testicles. url:https://en.wikipedia.org/wiki/Sertoli–Leydig_cell_tumour A male reproductive system cancer that is located_in the testicles. DOID:12231 DOID:5554 GARD:7746 ICD10CM:C62 ICD9CM:186 MESH:D013736 NCI:C3404 NCI:C5053 NCI:C7251 SNOMEDCT_US_2023_03_01:126900000 SNOMEDCT_US_2023_03_01:94087009 UMLS_CUI:C0039590 UMLS_CUI:C0153594 UMLS_CUI:C1333010 childhood neoplasm of the testis neoplasm of testis pediatric testicular neoplasm testicular tumor testis cancer testis neoplasm disease_ontology DOID:2998 OMIM mapping confirmed by DO. [SN]. testicular cancer DOID:2998 A male reproductive system cancer that is located_in the testicles. url:http://www.cancer.gov/dictionary?CdrID=445090 A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma. DOID:5333 MESH:D006106 NCI:C3070 NCI:C4205 SNOMEDCT_US_2023_03_01:18861007 SNOMEDCT_US_2023_03_01:46585005 UMLS_CUI:C0018206 UMLS_CUI:C0334401 Granulosa cell neoplasm Granulosa cell tumor, adult type Granulosa cell tumour, sarcomatoid malignant granulosa cell neoplasm disease_ontology DOID:2999 granulosa cell tumor DOID:2999 A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma. url:https://en.wikipedia.org/wiki/Granulosa_cell_tumour A disease that has an etiology of chemical exposure or exposure to other environmental factors excluding infectious agents. DOID:2711 environmentally induced disease disease_ontology DOID:3 obsolete disease by environmental exposure true DOID:3 A disease that has an etiology of chemical exposure or exposure to other environmental factors excluding infectious agents. url:https://www.merriam-webster.com/dictionary/environment#medicalDictionary A female reproductive organ cancer that is characterized by a resemblance to endometrium. NCI:C7113 SNOMEDCT_US_2023_03_01:253013001 UMLS_CUI:C0474809 endometrioid neoplasm endometrioid tumor disease_ontology female reproductive endometrioid neoplasm DOID:3001 female reproductive endometrioid cancer DOID:3001 A female reproductive organ cancer that is characterized by a resemblance to endometrium. url:https://en.wikipedia.org/wiki/Endometrioid_tumor An ovarian cancer that has_material_basis_in nuroendocrine cells. NCI:C5237 UMLS_CUI:C1335172 neuroendocrine tumor of Ovary disease_ontology DOID:3002 ovary neuroendocrine neoplasm DOID:3002 An ovarian cancer that has_material_basis_in nuroendocrine cells. url:https://www.ncbi.nlm.nih.gov/pubmed/26976990 A breast benign neoplasm that is located_in the nipple. NCI:C5212 UMLS_CUI:C1112166 tumor of Nipple disease_ontology DOID:3003 nipple benign neoplasm DOID:3003 A breast benign neoplasm that is located_in the nipple. url:https://en.wikipedia.org/wiki/Nipple_adenoma A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane. NCI:C40389 UMLS_CUI:C1511319 disease_ontology DOID:3004 breast myoepithelial neoplasm DOID:3004 A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439666/ A breast carcinoma that derives_from the lining of milk ducts. MESH:D044584 SNOMEDCT_US_2023_03_01:82711006 UMLS_CUI:C1176475 duct carcinoma disease_ontology DOID:3007 breast ductal carcinoma DOID:3007 A breast carcinoma that derives_from the lining of milk ducts. url:http://cancergenome.nih.gov/cancersselected/breastductal url:http://www.cancer.gov/dictionary?CdrID=45085 A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated. DOID:3005 MESH:D018270 NCI:C4017 NCI:C4194 SNOMEDCT_US_2023_03_01:408643008 UMLS_CUI:C1134719 UMLS_CUI:C1527349 Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma disease_ontology DOID:3008 invasive ductal carcinoma DOID:3008 A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated. url:https://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html url:https://www.ncbi.nlm.nih.gov/pubmed/25343550 A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system. NCI:C5169 UMLS_CUI:C1332635 neuroendocrine tumor of the breast disease_ontology DOID:3009 breast neuroendocrine neoplasm DOID:3009 A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/neuroendocrine-tumor A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast. NCI:C27939 UMLS_CUI:C0861352 Lobular Intraepithelial Neoplasia lobular carcinoma in situ disease_ontology DOID:3010 lobular neoplasia DOID:3010 A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/lobular-neoplasia A breast cancer that is believed to arises_from Schwann cells. NCI:C40400 UMLS_CUI:C1511312 disease_ontology DOID:3011 breast granular cell tumor DOID:3011 A breast cancer that is believed to arises_from Schwann cells. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/granular-cell-tumor A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. GARD:6902 MESH:D016864 MIM:PS151623 NCI:C3476 ORDO:524 SNOMEDCT_US_2023_03_01:428850001 UMLS_CUI:C0085390 LFS Li-Fraumeni Familiar cancer Susceptibility syndrome SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome disease_ontology DOID:3012 Xref MGI. OMIM mapping confirmed by DO. [SN]. Li-Fraumeni syndrome DOID:3012 A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. url:http://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome url:http://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome url:https://www.lfsassociation.org/what-is-lfs/ LFS A breast benign neoplasm that is located_in the breast ducts. NCI:C36083 UMLS_CUI:C0948967 disease_ontology DOID:3013 intraductal breast benign neoplasm DOID:3013 A breast benign neoplasm that is located_in the breast ducts. url:https://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html url:https://www.ncbi.nlm.nih.gov/pubmed/23025963 Papillary tumor of breast disease_ontology DOID:3015 obsolete breast papillary neoplasm true DOID:3015 A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s). DOID:1632 DOID:3018 MESH:D003557 NCI:C4275 NCI:C4504 NCI:C7575 SNOMEDCT_US_2023_03_01:254844000 SNOMEDCT_US_2023_03_01:712989008 SNOMEDCT_US_2023_03_01:87913009 UMLS_CUI:C0238031 UMLS_CUI:C0346154 UMLS_CUI:C0600066 Phyllodes breast neoplasm Phyllodes tumor, malignant breast malignant phyllodes tumour malignant Mammary Phyllodes tumor malignant Mammary Phyllodes tumour malignant Phyllodes neoplasm malignant cystosarcoma phyllodes malignant phyllodes tumor malignant phyllodes tumor of breast malignant phyllodes tumour malignant phyllodes tumour of breast phyllodes breast tumor phyllodes breast tumour disease_ontology DOID:3016 breast malignant phyllodes tumor DOID:3016 A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s). url:https://www.sciencedirect.com/science/article/pii/S2214330016300256 A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells. NCI:C4670 SNOMEDCT_US_2023_03_01:278050001 UMLS_CUI:C0349667 sarcoma of breast disease_ontology DOID:3017 breast sarcoma DOID:3017 A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells. url:http://en.wikipedia.org/wiki/Sarcoma disease_ontology DOID:3019 obsolete postpartum acute renal failure true DOID:3019 A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. MESH:D019966 NCI:C16522 SNOMEDCT_US_2023_03_01:26416006 UMLS_CUI:C0013146 disease_ontology DOID:302 substance abuse DOID:302 A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. url:http://en.wikipedia.org/wiki/Substance_abuse disease_ontology DOID:3020 obsolete Complication of labor and/or delivery true DOID:3020 MESH:D058186 disease_ontology DOID:3021 acute kidney failure DOID:3021 disease_ontology DOID:3022 obsolete complication of the puerperium true DOID:3022 NCI:C5596 UMLS_CUI:C1332139 disease_ontology DOID:3024 prostatic acinar adenocarcinoma DOID:3024 A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells. GARD:8568 ICDO:8550/3 MESH:D018267 NCI:C3768 SNOMEDCT_US_2023_03_01:45410002 UMLS_CUI:C0206685 acinic cell carcinoma disease_ontology DOID:3025 acinar cell carcinoma DOID:3025 A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells. url:https://pubmed.ncbi.nlm.nih.gov/15215543/ disease_ontology DOID:3026 obsolete metastatic prostatic adenocarcinoma true DOID:3026 adenocarcinoma, metastatic (morphologic abnormality) adenocarcinoma, metastatic, NOS (morphologic abnormality) disease_ontology DOID:3027 obsolete metastatic adenocarcinoma true DOID:3027 Colonic adenoma with Intramucosal adenocarcinoma disease_ontology adenoma of colon with intramucosal adenocarcinoma DOID:3028 obsolete intramucosal adenocarcinoma colon adenoma true DOID:3028 NCI:C7966 UMLS_CUI:C0279639 Colonic mucinous adenocarcinoma disease_ontology DOID:3029 colon mucinous adenocarcinoma DOID:3029 A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning. MESH:D019966 NCI:C92203 UMLS_CUI:C0236969 disease_ontology DOID:303 substance-related disorder DOID:303 A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning. url:https://www.psychologytoday.com/us/conditions/substance-related-disorders An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. DOID:4532 ICDO:8480/3 MESH:D002288 NCI:C26712 NCI:C27379 SNOMEDCT_US_2023_03_01:72495009 SNOMEDCT_US_2023_03_01:900006 UMLS_CUI:C0007130 UMLS_CUI:C0334368 Mucin-Secreting adenocarcinoma Mucin-Secreting carcinoma Mucous carcinoma Pseudomyxoma peritonei with unknown primary site mucin-producing adenocarcinoma disease_ontology DOID:3030 mucinous adenocarcinoma DOID:3030 An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. url:http://coloncancer.about.com/od/typesofcancer/a/Mucinous_Tumor.htm url:http://medical-dictionary.thefreedictionary.com/mucinous+carcinoma UMLS_CUI:C0279640 UMLS_CUI:C1707436 Colonic Signet Ring adenocarcinoma disease_ontology DOID:3033 colon signet ring adenocarcinoma DOID:3033 NCI:C38760 UMLS_CUI:C1515024 disease_ontology DOID:3038 submucosal invasive colon adenocarcinoma DOID:3038 A cecum carcinoma that derives_from epithelial cells of glandular origin. NCI:C5543 SNOMEDCT_US_2023_03_01:413446001 UMLS_CUI:C1332866 Cecal adenocarcinoma disease_ontology DOID:3039 cecum adenocarcinoma DOID:3039 A cecum carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign. ICD10CM:L23 MESH:D017449 NCI:C26998 SNOMEDCT_US_2023_03_01:200841005 UMLS_CUI:C0162820 disease_ontology DOID:3042 allergic contact dermatitis DOID:3042 A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign. url:http://en.wikipedia.org/wiki/Allergic_contact_dermatitis ls:IEDB A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. MESH:D005512 NCI:C172304 SNOMEDCT_US_2023_03_01:213018006 UMLS_CUI:C0016470 food hypersensitivity disease_ontology DOID:3044 food allergy DOID:3044 A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. url:http://www.niaid.nih.gov/topics/foodAllergy/understanding/Pages/whatIsIt.aspx A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease. MESH:D014924 SNOMEDCT_US_2023_03_01:68190001 UMLS_CUI:C0043195 Wissler's subsepsis allergica Wissler's syndrome disease_ontology DOID:3047 Wissler-Fanconi syndrome DOID:3047 A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease. url:http://en.wikipedia.org/wiki/Wissler%27s_syndrome url:https://www.ncbi.nlm.nih.gov/articles/PMC5098720/ url:https://www.ncbi.nlm.nih.gov/pubmed/8150635 A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding. ICD10CM:M30.1 MESH:D015267 NCI:C34481 SNOMEDCT_US_2023_03_01:82275008 UMLS_CUI:C0008728 Allergic Granulomatous Angiitis Allergic granulomatosis angiitis Churg-Strauss vasculitis disease_ontology DOID:3049 Churg-Strauss syndrome DOID:3049 A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding. url:http://www.hopkinsvasculitis.org/types-vasculitis/churgstrauss-syndrome-css/ url:http://www.mayoclinic.com/health/churg-strauss-syndrome/DS00855 A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:2428 DOID:6570 ICDO:8010/3 MESH:D002277 MESH:D009375 NCI:C2916 NCI:C3709 SNOMEDCT_US_2023_03_01:188083002 SNOMEDCT_US_2023_03_01:269513004 SNOMEDCT_US_2023_03_01:71298006 UMLS_CUI:C0007097 UMLS_CUI:C0553707 UMLS_CUI:C1368683 epithelial cancer epithelioma malignant Epithelioma disease_ontology DOID:305 carcinoma DOID:305 A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. ICD10CM:N15.0 MESH:D001449 MIM:124100 SNOMEDCT_US_2023_03_01:197748005 UMLS_CUI:C0004698 Balkan endemic nephropathy DEFN Danubian endemic familial nephropathy disease_ontology DOID:3052 OMIM mapping confirmed by DO. [SN]. Balkan nephropathy DOID:3052 An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. url:http://en.wikipedia.org/wiki/Danubian_endemic_familial_nephropathy DEFN A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly. DOID:13324 DOID:13325 DOID:3053 ICD10CM:A01.1 ICD10CM:A01.2 ICD10CM:A01.3 ICD10CM:A01.4 ICD9CM:002.1 ICD9CM:002.2 ICD9CM:002.3 ICD9CM:002.9 MESH:D010284 NCI:C34894 NCI:C34895 NCI:C34896 NCI:C34897 SNOMEDCT_US_2023_03_01:51254007 SNOMEDCT_US_2023_03_01:71085009 SNOMEDCT_US_2023_03_01:76623002 SNOMEDCT_US_2023_03_01:85904008 UMLS_CUI:C0030528 UMLS_CUI:C0343375 UMLS_CUI:C0343376 UMLS_CUI:C0343377 Paratyphoid Paratyphoid A fever Paratyphoid B fever Paratyphoid C fever Paratyphoid fever A Paratyphoid fever B Paratyphoid fever C paratyphoid a paratyphoid b paratyphoid c disease_ontology DOID:3055 paratyphoid fever DOID:3055 A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly. url:http://en.wikipedia.org/wiki/Paratyphoid_fever A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses. disease_ontology DOID:3056 obsolete Paramyxoviridae infectious disease true DOID:3056 A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Paramyxoviridae viruses. url:http://en.wikipedia.org/wiki/Paramyxoviridae Dyskinesia disease_ontology DOID:306 obsolete dyskinetic syndrome true DOID:306 disorder of taste (disorder) taste disorder disease_ontology DOID:3067 obsolete taste disorder true DOID:3067 A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes. DOID:3075 DOID:3080 GARD:2491 ICDO:9440/3 MESH:D005909 NCI:C129295 NCI:C39750 NCI:C9094 SNOMEDCT_US_2023_03_01:63634009 UMLS_CUI:C0017636 UMLS_CUI:C0278878 UMLS_CUI:C1514422 GBM adult glioblastoma multiforme glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme disease_ontology DOID:3068 glioblastoma DOID:3068 A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes. url:http://cancergenome.nih.gov/cancersselected/glioblastomamultiforme url:http://en.wikipedia.org/wiki/Glioblastoma_multiforme url:https://www.ncbi.nlm.nih.gov/pubmed/20129251 url:https://www.ncbi.nlm.nih.gov/pubmed/23029035 GBM A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord. DOID:4861 ICDO:9400/3 MESH:D001254 NCI:C4951 NCI:C60781 SNOMEDCT_US_2023_03_01:189914005 SNOMEDCT_US_2023_03_01:99131000119108 UMLS_CUI:C0004114 UMLS_CUI:C0750935 Astrocytic tumor astrocytoma of Cerebrum astrocytoma of brain astroglioma cerebral astrocytoma disease_ontology DOID:3069 malignant astrocytoma MESH:D001254 DOID:3069 A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord. url:http://en.wikipedia.org/wiki/Astrocytoma A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine. DOID:2627 ICDO:9380/3 KEGG:05214 MESH:D005910 MIM:PS137800 NCI:C3059 NCI:C4822 ORDO:182067 SNOMEDCT_US_2023_03_01:393564001 SNOMEDCT_US_2023_03_01:74532006 UMLS_CUI:C0017638 UMLS_CUI:C0555198 Neuroglial tumor glial cell tumor glioma, malignant malignant Neuroglial tumor malignant glioma disease_ontology DOID:3070 Xref MGI. OMIM mapping confirmed by DO. [SN]. high grade glioma DOID:3070 A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine. url:http://en.wikipedia.org/wiki/Malignant_glioma A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation. GARD:5653 ICDO:9442/3 MESH:D018316 NCI:C3796 SNOMEDCT_US_2023_03_01:35262004 UMLS_CUI:C0206726 Glioblastoma with sarcomatous component disease_ontology DOID:3071 gliosarcoma DOID:3071 A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation. url:https://en.wikipedia.org/wiki/Gliosarcoma url:https://www.cancer.gov/rare-brain-spine-tumor/tumors/gliosarcoma disease_ontology DOID:3072 obsolete secondary glioblastoma multiforme true DOID:3072 A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems. NCI:C4642 SNOMEDCT_US_2023_03_01:276828006 UMLS_CUI:C0349543 Glioblastoma multiforme of brain brain Glioblastoma disease_ontology DOID:3073 brain glioblastoma multiforme DOID:3073 A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems. url:https://en.wikipedia.org/wiki/Glioblastoma A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells. ICDO:9441/3 MESH:D005909 NCI:C4325 SNOMEDCT_US_2023_03_01:44529004 UMLS_CUI:C0334588 Monstrocellular sarcoma disease_ontology DOID:3074 giant cell glioblastoma DOID:3074 A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells. url:http://en.wikipedia.org/wiki/Giant-cell_glioblastoma url:http://neuro-oncology.oxfordjournals.org/content/11/6/833.full A malignant astrocytoma that occurs during adulthood. NCI:C7049 UMLS_CUI:C1332183 adult astrocytic tumour adult astrocytoma disease_ontology DOID:3076 adult astrocytic tumor DOID:3076 A malignant astrocytoma that occurs during adulthood. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7049 Undifferentiated pediatric astrocytoma pediatric Glioblastoma Multiforme disease_ontology DOID:3077 obsolete anaplastic childhood astrocytoma true DOID:3077 A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei. GARD:5860 MESH:D001254 NCI:C9477 SNOMEDCT_US_2023_03_01:55353007 UMLS_CUI:C0334579 grade III Astrocytic tumor grade III astrocytoma disease_ontology DOID:3078 anaplastic astrocytoma DOID:3078 A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei. url:http://en.wikipedia.org/wiki/Anaplastic_astrocytoma url:http://www.cancer.gov/dictionary?CdrID=45591 NCI:C9022 SNOMEDCT_US_2023_03_01:128854008 UMLS_CUI:C1321865 juvenile astrocytoma pediatric astrocytoma disease_ontology DOID:3079 childhood astrocytic tumor DOID:3079 MESH:D004831 UMLS_CUI:C0014550 Epileptic seizures - myoclonic Epileptic seizures, myoclonic Myoclonic seizure Myoclonic seizure disorder myoclonia epileptica myoclonic epilepsy disease_ontology DOID:308 early myoclonic encephalopathy DOID:308 GARD:6234 ICDO:9173/0 MESH:D018191 MIM:257350 NCI:C3724 SNOMEDCT_US_2023_03_01:40225001 UMLS_CUI:C0206620 cystic Hygroma disease_ontology DOID:3081 cystic lymphangioma DOID:3081 A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough. GARD:13336 ICD10CM:J84.9 MESH:D017563 MIM:PS619611 NCI:C164315 SNOMEDCT_US_2023_03_01:64667001 UMLS_CUI:C0206062 ILD disease_ontology DOID:3082 interstitial lung disease DOID:3082 A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215823/ ILD An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both. DOID:11500 DOID:6144 EFO:0000341 ICD10CM:J44.9 MESH:D029424 MIM:606963 NCI:C3199 SNOMEDCT_US_2023_03_01:13645005 UMLS_CUI:C0024117 COLD COPD chronic obstructive airway disease chronic obstructive lung disease disease_ontology DOID:3083 chronic obstructive pulmonary disease DOID:3083 An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both. url:https://pubmed.ncbi.nlm.nih.gov/28513453/ url:https://pubmed.ncbi.nlm.nih.gov/32745458/ url:https://pubmed.ncbi.nlm.nih.gov/32800196/ url:https://www.nhlbi.nih.gov/health/copd COLD COPD ICD10CM:K06.1 MESH:D019214 SNOMEDCT_US_2023_03_01:54711002 UMLS_CUI:C0376480 Gingival enlargement disease_ontology DOID:3086 gingival overgrowth DOID:3086 DOID:10422 DOID:10424 ICD10CM:K05.0 ICD10CM:K05.1 ICD10CM:K05.10 ICD9CM:523.0 ICD9CM:523.1 MESH:D005891 NCI:C34474 NCI:C34636 SNOMEDCT_US_2023_03_01:155643004 SNOMEDCT_US_2023_03_01:196355002 SNOMEDCT_US_2023_03_01:266490003 UMLS_CUI:C0008684 UMLS_CUI:C0017574 UMLS_CUI:C0155937 acute gingivitis chronic gingivitis disease_ontology DOID:3087 gingivitis DOID:3087 NCI:C27162 SNOMEDCT_US_2023_03_01:50390006 UMLS_CUI:C0436545 Non-Specific Granulomatous Orchitis disease_ontology DOID:3089 granulomatous orchitis DOID:3089 disease_ontology DOID:3090 obsolete testicular non-neoplastic disease true DOID:3090 An opportunistic bacterial infectious disease that has_material_basis_in Acinetobacter. disease_ontology DOID:3091 Acinetobacter infectious disease DOID:3091 An opportunistic bacterial infectious disease that has_material_basis_in Acinetobacter. url:https://www.cdc.gov/HAI/organisms/acinetobacter.html disease_ontology DOID:3092 obsolete opportunistic Moraxellaceae infectious disease true DOID:3092 An organ system cancer located_in the nervous system that affects the central or peripheral nervous system. DOID:1193 DOID:3195 DOID:4695 ICD9CM:192.9 MESH:D009380 NCI:C35562 SNOMEDCT_US_2023_03_01:188306000 UMLS_CUI:C0027665 UMLS_CUI:C0153643 UMLS_CUI:C1334956 malignant neoplasm of nervous system neoplasm of nervous system nervous system neoplasm neural neoplasm neural tumor tumor of the nervous system disease_ontology DOID:3093 nervous system cancer DOID:3093 An organ system cancer located_in the nervous system that affects the central or peripheral nervous system. url:http://en.wikipedia.org/wiki/Nervous_system_disease tumor of Neuroepithelium disease_ontology DOID:3094 obsolete neuroepithelial neoplasm true DOID:3094 A germ cell cancer that is derives_from a mixture of germs cells and embryonal cells. MESH:D009373 UMLS_CUI:C0027658 disease_ontology germ cell and embryonal neoplasm DOID:3095 germ cell and embryonal cancer DOID:3095 A germ cell cancer that is derives_from a mixture of germs cells and embryonal cells. url:http://en.wikipedia.org/wiki/Germ_cell ICD10CM:H04.57 ICD9CM:375.54 SNOMEDCT_US_2023_03_01:11772001 UMLS_CUI:C0155246 disease_ontology DOID:3096 stenosis of lacrimal sac DOID:3096 Stenosis and insufficiency of lacrimal passages (disorder) Stenosis and insufficiency of lacrimal passages NOS (disorder) Stenosis of lacrimal passages disease_ontology DOID:3097 obsolete stenosis and insufficiency of lacrimal passage true DOID:3097 A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm. ICDO:8803/3 MESH:D018228 NCI:C3746 SNOMEDCT_US_2023_03_01:73506006 UMLS_CUI:C0206652 disease_ontology DOID:3098 small cell sarcoma DOID:3098 A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm. url:https://pubmed.ncbi.nlm.nih.gov/36202860/ ICD10CM:E88.42 MESH:D017243 MIM:545000 NCI:C84889 SNOMEDCT_US_2023_03_01:68448003 UMLS_CUI:C0162672 Fukuhara syndrome Myoclonic epilepsy - ragged red fibers Myoclonus epilepsy AND ragged red fibers Myoclonus with epilepsy and with Ragged Red Fibers disease_ontology DOID:310 OMIM mapping confirmed by DO. [SN]. MERRF syndrome DOID:310 disease_ontology DOID:3100 obsolete Ureaplasma urealyticum urethritis true DOID:3100 disease_ontology DOID:3101 obsolete primary Mycoplasmatales infectious disease true DOID:3101 Arterial thoracic outlet syndrome due to cervical rib disease_ontology DOID:3102 obsolete cervical rib syndrome true DOID:3102 A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles. GARD:7759 ICD10CM:G54.0 MESH:D013901 NCI:C85188 SNOMEDCT_US_2023_03_01:2040007 UMLS_CUI:C0039984 TOS - Thoracic outlet syndrome disease_ontology DOID:3103 thoracic outlet syndrome DOID:3103 A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles. url:http://en.wikipedia.org/wiki/Thoracic_outlet_syndrome A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms. DOID:4190 Nematode infection Roundworm Roundworm infection creeping eruption larva migrans disease_ontology DOID:3106 obsolete Nematoda infectious disease true DOID:3106 A parasitic helminthiasis infectious disease that involves infection by parasitic roundworms including ascarids, filarids, hookworms, pinworms, and whipworms. url:http://en.wikipedia.org/wiki/Nematode url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4783 A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite. MESH:D017227 UMLS_CUI:C0040522 disease_ontology DOID:3107 toxascariasis DOID:3107 A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite. url:http://en.wikipedia.org/wiki/Toxascaris_leonina A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia. MESH:D001198 SNOMEDCT_US_2023_03_01:2435008 UMLS_CUI:C0003952 disease_ontology DOID:3108 ascaridiasis DOID:3108 A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia. url:https://www.ncbi.nlm.nih.gov/pubmed/18367882 A lymphopenia that is caused by a reduction of CD4+ T lymphocytes. MESH:D018344 NCI:C84780 UMLS_CUI:C0206744 disease_ontology DOID:3109 idiopathic CD4-positive T-lymphocytopenia DOID:3109 A lymphopenia that is caused by a reduction of CD4+ T lymphocytes. url:http://en.wikipedia.org/wiki/Idiopathic_CD4%2B_lymphocytopenia A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections. GARD:10162 ICDO:8450/3 MESH:D018283 NCI:C3777 SNOMEDCT_US_2023_03_01:2735009 UMLS_CUI:C0206700 disease_ontology DOID:3110 papillary cystadenocarcinoma DOID:3110 A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections. url:http://www.sciencedirect.com/science/article/pii/S1741940905000841 An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed. ICDO:8440/3 MESH:D003536 NCI:C2971 SNOMEDCT_US_2023_03_01:21008007 UMLS_CUI:C0010631 disease_ontology DOID:3111 cystadenocarcinoma DOID:3111 An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed. url:http://en.wikipedia.org/wiki/Cystadenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue. DOID:5596 ICDO:8260/3 MESH:D000231 NCI:C2853 SNOMEDCT_US_2023_03_01:4797003 UMLS_CUI:C0001420 Infiltrating and papillary adenocarcinoma infiltrating papillary adenocarcinoma disease_ontology DOID:3112 papillary adenocarcinoma DOID:3112 An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue. url:http://en.wikipedia.org/wiki/Papillary_adenocarcinoma A carcinoma that is derives_from epithelial cells with finger like projections. ICDO:8050/3 MESH:D002291 NCI:C2927 SNOMEDCT_US_2023_03_01:25910003 UMLS_CUI:C0007133 disease_ontology DOID:3113 papillary carcinoma DOID:3113 A carcinoma that is derives_from epithelial cells with finger like projections. url:http://breastcancer.about.com/od/types/p/papillary_ca.htm A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. MESH:D018284 NCI:C3778 SNOMEDCT_US_2023_03_01:90725004 UMLS_CUI:C0206701 serous adenocarcinoma serous carcinoma disease_ontology DOID:3114 serous cystadenocarcinoma DOID:3114 A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. url:http://ukpmc.ac.uk/abstract/MED/16025006 disease_ontology transitional cell neoplasm of the urinary tract DOID:3115 obsolete urinary tract transitional cell cancer true DOID:3115 NCI:C7514 UMLS_CUI:C1334323 renal and ureteral tumor disease_ontology DOID:3116 kidney benign neoplasm DOID:3116 A gastrointestinal system benign neoplasm located_in the hepatobiliary system. NCI:C8614 UMLS_CUI:C0854196 hepatobiliary tumors disease_ontology DOID:3117 hepatobiliary benign neoplasm DOID:3117 A gastrointestinal system benign neoplasm located_in the hepatobiliary system. url:http://en.wikipedia.org/wiki/Hepatobiliary_system A gastrointestinal system disease that is located_in the liver and/or biliary tract. MESH:D004066 NCI:C3959 UMLS_CUI:C0267792 liver and biliary tract disease disease_ontology DOID:3118 hepatobiliary disease DOID:3118 A gastrointestinal system disease that is located_in the liver and/or biliary tract. url:http://en.wikipedia.org/wiki/Hepato-biliary_diseases An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. DOID:4945 DOID:8377 ICD10CM:C26.9 ICD9CM:239.0 MESH:D004067 MESH:D005770 NCI:C3052 NCI:C4890 SNOMEDCT_US_2023_03_01:128348002 SNOMEDCT_US_2023_03_01:276806006 SNOMEDCT_US_2023_03_01:428905002 UMLS_CUI:C0012243 UMLS_CUI:C0017185 UMLS_CUI:C0685938 GI tumor digestive system cancer gastrointestinal tract cancer disease_ontology DOID:3119 gastrointestinal system cancer DOID:3119 An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract A tenosynovitis that is located in the foot and ankle. ICD9CM:727.06 UMLS_CUI:C0158331 disease_ontology DOID:312 tenosynovitis of foot and ankle DOID:312 A tenosynovitis that is located in the foot and ankle. url:https://medlineplus.gov/ency/article/001242.htm A gallbladder benign neoplasm composed of epithelial tissue on papillae of vascularized connective tissue. NCI:C7130 UMLS_CUI:C1333754 disease_ontology DOID:3120 gallbladder papillomatosis DOID:3120 A gallbladder benign neoplasm composed of epithelial tissue on papillae of vascularized connective tissue. url:https://pubmed.ncbi.nlm.nih.gov/25351203/ A biliary tract cancer that is located_in the gallbladder. DOID:8090 DOID:8157 GARD:9328 ICD10CM:C23 ICD9CM:156.0 MESH:D005706 NCI:C3048 NCI:C35676 NCI:C7481 SNOMEDCT_US_2023_03_01:126854002 SNOMEDCT_US_2023_03_01:93810008 UMLS_CUI:C0016978 UMLS_CUI:C0153452 UMLS_CUI:C0278806 gallbladder Ca gallbladder neoplasm localized malignant gallbladder neoplasm malignant neoplasm of gallbladder malignant tumor of the gallbladder malignant tumour of gallbladder tumor of the gallbladder disease_ontology DOID:3121 gallbladder cancer DOID:3121 A biliary tract cancer that is located_in the gallbladder. url:http://en.wikipedia.org/wiki/Gallbladder MESH:D017219 SNOMEDCT_US_2023_03_01:196759006 UMLS_CUI:C0162651 gastric outflow obstruction disease_ontology DOID:3122 gastric outlet obstruction DOID:3122 A syndrome that is characterized by tumors in at least two endocrine glands. MESH:D009377 Multiple endocrine adenomatosis Multiple endocrine neoplasia syndrome disease_ontology DOID:3125 multiple endocrine neoplasia DOID:3125 A syndrome that is characterized by tumors in at least two endocrine glands. url:https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding. ICD10CM:K62.89 MESH:D011349 NCI:C38011 SNOMEDCT_US_2023_03_01:266534007 UMLS_CUI:C0033246 ulcerative proctitis disease_ontology DOID:3127 proctitis DOID:3127 A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding. url:http://www.cdc.gov/std/Treatment/2006/proctitis.htm url:http://www.merck.com/mmpe/sec02/ch020/ch020i.html#sec02-ch020-ch020g-1361 A rectal disease located_in the anus. DOID:11479 DOID:11993 MESH:D001004 NCI:C26695 SNOMEDCT_US_2023_03_01:32110003 UMLS_CUI:C0003462 Nontraumatic tear of anus Solitary anal ulcer Ulcer of anus anal disease anal fissure anal fissure and fistula anal ulcer fissure in ano disease_ontology DOID:3128 anus disease DOID:3128 A rectal disease located_in the anus. url:https://www.health.harvard.edu/a_to_z/anal-disorders-a-to-z disease_ontology DOID:313 obsolete synovitis and tenosynovitis true DOID:313 An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin. GARD:7433 ICD10CM:E80.1 MESH:D017119 MIM:176090 MIM:176100 NCI:C27725 ORDO:101330 SNOMEDCT_US_2023_03_01:61860000 UMLS_CUI:C0162566 disease_ontology DOID:3132 Xref MGI. OMIM mapping confirmed by DO. [SN]. porphyria cutanea tarda DOID:3132 An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin. url:http://en.wikipedia.org/wiki/Porphyria_cutanea_tarda url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/321/viewAbstract A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis. MESH:D017094 MIM:612740 ORDO:100924 SNOMEDCT_US_2023_03_01:55056006 UMLS_CUI:C0162533 hepatic porphyria disease_ontology DOID:3133 Xref MGI. acute porphyria DOID:3133 A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis. url:http://en.wikipedia.org/wiki/Porphyria url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/porphyrias/acute_porphyrias.html MESH:D005148 UMLS_CUI:C0015456 disease_ontology DOID:3134 facial dermatosis DOID:3134 MESH:D012536 SNOMEDCT_US_2023_03_01:402694007 UMLS_CUI:C0036271 Dermatosis of scalp disease_ontology DOID:3136 scalp dermatosis DOID:3136 disease_ontology DOID:3137 obsolete multiple symmetrical lipomatosis true DOID:3137 A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas. GARD:8603 ICD10CM:L83 MESH:D000052 MIM:100600 MIM:200170 NCI:C26687 SNOMEDCT_US_2023_03_01:72129000 UMLS_CUI:C0000889 keratosis nigricans disease_ontology DOID:3138 OMIM mapping confirmed by DO. [SN]. acanthosis nigricans MESH:D000052 DOID:3138 A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas. url:https://pubmed.ncbi.nlm.nih.gov/32516476/ url:https://www.ncbi.nlm.nih.gov/books/NBK431057/ ICD9CM:727.02 ICDO:9252/0 MESH:D000070779 NCI:C3402 SNOMEDCT_US_2023_03_01:310605004 UMLS_CUI:C1318543 Giant cell tumor of Tenosynovium Giant cell tumor of tendon sheath Giant cell tumour of Tenosynovium Giant cell tumour of tendon sheath fibrous histiocytoma of tendon sheath tenosynovial giant cell tumour disease_ontology DOID:314 tenosynovial giant cell tumor DOID:314 A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions. GARD:5975 MESH:D012592 NCI:C85057 SNOMEDCT_US_2023_03_01:72967001 UMLS_CUI:C0036413 Buschke's scleredema disease_ontology DOID:3140 scleredema adultorum DOID:3140 A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions. url:https://www.ncbi.nlm.nih.gov/pubmed/30128796 A connective tissue disease characterized by accumulation of glycosaminoglycan located_in the dermal tissue. MESH:D017520 SNOMEDCT_US_2023_03_01:11528001 UMLS_CUI:C0162855 disease_ontology DOID:3141 mucinoses DOID:3141 A connective tissue disease characterized by accumulation of glycosaminoglycan located_in the dermal tissue. url:https://en.wikipedia.org/wiki/Mucinosis url:https://www.dermnetnz.org/topics/cutaneous-mucinoses/ MESH:D007868 UMLS_CUI:C0023219 disease_ontology DOID:3142 leg dermatosis DOID:3142 DOID:8546 DOID:8547 DOID:8550 DOID:8588 DOID:8589 DOID:8657 DOID:8723 DOID:8804 DOID:8901 DOID:8908 DOID:9014 DOID:9089 DOID:9147 DOID:9236 Contact dermatitis and other eczema Contact dermatitis and other eczema due to animal (cat) (dog) dander Contact dermatitis and other eczema due to detergents Contact dermatitis and other eczema due to drugs and medicines in contact with skin Contact dermatitis and other eczema due to food in contact with skin Contact dermatitis and other eczema due to oils and greases Contact dermatitis and other eczema due to other chemical products Contact dermatitis and other eczema due to other specified agents Contact dermatitis and other eczema due to plants Contact dermatitis and other eczema due to plants [except food] Contact dermatitis and other eczema due to solvents Contact dermatitis and other eczema, unspecified cause Contact dermatitis and other eczemas Contact dermatitis and other eczemas (disorder) Contact dermatitis due to cosmetics Contact dermatitis due to cosmetics (disorder) Contact dermatitis due to metal (disorder) Contact dermatitis due to metals Contact dermatitis due to metals (disorder) Contact dermatitis: metals Dermatitis due to cosmetics Dermatitis due to metals Dermatitis due to other radiation Dermatitis due to other radiation NOS disease_ontology DOID:3143 obsolete eczematous skin disease true DOID:3143 A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity. GARD:6227 ICD10CM:Q82.8 MESH:D003483 MIM:PS123700 NCI:C84663 ORDO:209 SNOMEDCT_US_2023_03_01:238825007 UMLS_CUI:C0010495 loose skin disease_ontology DOID:3144 Xref MGI. cutis laxa DOID:3144 A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity. url:http://en.wikipedia.org/wiki/Cutis_laxa url:http://ghr.nlm.nih.gov/condition/cutis-laxa url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/175/viewAbstract A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13. MESH:D006952 MIM:617347 NCI:C34710 SNOMEDCT_US_2023_03_01:42569002 UMLS_CUI:C0020479 Remnant hyperlipidemia carbohydrate induced hyperlipemia familial hypercholesterolaemia with hyperlipaemia familial type 3 hyperlipoproteinemia disease_ontology DOID:3145 hyperlipoproteinemia type III DOID:3145 A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13. url:https://pubmed.ncbi.nlm.nih.gov/27481046/ An inherited metabolic disorder that involves the creation and degradation of lipids. MESH:D008052 UMLS_CUI:C0023772 dyslipidemia fatty acid metabolism disorder disease_ontology DOID:3146 lipid metabolism disorder DOID:3146 An inherited metabolic disorder that involves the creation and degradation of lipids. url:http://en.wikipedia.org/wiki/Lipid_metabolism SNOMEDCT_US_2023_03_01:254783008 UMLS_CUI:C0474966 Unilateral Segmental Cavernous hemangioma of the skin Unilateral segmental cavernous hemangioma disease_ontology DOID:3148 dermal unilateral segmental cavernous angioma DOID:3148 MESH:D007636 NCI:C3146 SNOMEDCT_US_2023_03_01:201061007 UMLS_CUI:C0022572 disease_ontology DOID:3149 keratoacanthoma DOID:3149 NCI:C8964 SNOMEDCT_US_2023_03_01:189829008 UMLS_CUI:C0476203 Synovial neoplasm tumor of Synovium disease_ontology DOID:315 synovium neoplasm DOID:315 A skin carcinoma that has_material_basis_in squamous cells. NCI:C4819 SNOMEDCT_US_2023_03_01:254651007 UMLS_CUI:C0553723 Epidermoid skin carcinoma disease_ontology squamous cell carcinoma of skin DOID:3151 skin squamous cell carcinoma DOID:3151 A skin carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma ICD10CM:E88.2 MESH:D008068 SNOMEDCT_US_2023_03_01:37095002 UMLS_CUI:C0023801 multiple lipomatosis disease_ontology DOID:3153 lipomatosis DOID:3153 A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation). MESH:D010859 MIM:300337 NCI:C7582 SNOMEDCT_US_2023_03_01:367520004 UMLS_CUI:C0022283 Bloch-Siemans syndrome Incontinentia pigmenti achromians syndrome Ito's nevus incontinentia pigmenti achromians nevus of Ito disease_ontology DOID:3156 hypomelanosis of Ito DOID:3156 A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation). url:https://rarediseases.org/rare-diseases/hypomelanosis-of-ito/ Congenital Pigmented skin nevus Congenital melanocytic naevus of skin Congenital melanocytic nevus (disorder) Congenital melanocytic nevus (morphologic abnormality) Congenital pigmented melanocytic naevus Congenital pigmented melanocytic naevus of skin disease_ontology DOID:3157 obsolete congenital melanocytic nevus true DOID:3157 MESH:D006229 UMLS_CUI:C0018567 disease_ontology DOID:3158 hand dermatosis DOID:3158 MESH:D010787 SNOMEDCT_US_2023_03_01:22649008 UMLS_CUI:C0031762 Photodermatitis disease_ontology DOID:3159 photosensitivity disease DOID:3159 A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles. NCI:C4237 SNOMEDCT_US_2023_03_01:68827007 UMLS_CUI:C0334444 Spitzoid malignant melanoma spindle cell malignant melanoma spindle cell melanoma disease_ontology desmoplastic melanoma DOID:3162 malignant spindle cell melanoma DOID:3162 A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144801/ A sarcoma that is located_in the skin or located_in tissues that line or cover internal organs and that contains long spindle-shaped cells. malignant spindle cell tumor malignant tumor, fusiform cell type (morphologic abnormality) disease_ontology DOID:3163 obsolete spindle cell cancer true DOID:3163 A sarcoma that is located_in the skin or located_in tissues that line or cover internal organs and that contains long spindle-shaped cells. url:http://www.cancer.gov/dictionary/?CdrID=44506 Hair nevus (disorder) Hairy naevus Hairy naevus NOS Hairy nevus NOS (morphologic abnormality) Nevoid hypertrichosis disease_ontology DOID:3164 obsolete Hair nevus true DOID:3164 MESH:D012878 NCI:C3372 SNOMEDCT_US_2023_03_01:126488004 UMLS_CUI:C0037286 neoplasm of skin neoplasm of skin by site skin neoplasm tumor of the skin disease_ontology DOID:3165 skin benign neoplasm DOID:3165 ICD10CM:D72.823 ICD9CM:288.62 MESH:D007955 NCI:C3185 UMLS_CUI:C0023501 disease_ontology transient myeloproliferative disorder DOID:3166 This is not a disease. A leukemoid reaction is an increase in the white blood cell count, which can mimic leukemia. The reaction is actually due to an infection or another disease and is not a sign of cancer. Blood counts often return to normal when the underlying condition is treated. obsolete leukemoid reaction true DOID:3166 A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. MESH:D018307 NCI:C3792 SNOMEDCT_US_2023_03_01:118286007 UMLS_CUI:C0206720 Epidermoid cell tumor squamous cell tumor disease_ontology DOID:3168 squamous cell neoplasm DOID:3168 A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma disease_ontology DOID:3169 obsolete papillary epithelial neoplasm true DOID:3169 papilloma of the respiratory tract disease_ontology DOID:3171 obsolete respiratory tract papilloma true DOID:3171 ICDO:8260/0 MESH:D000236 NCI:C79951 SNOMEDCT_US_2023_03_01:86143001 UMLS_CUI:C0205650 glandular papilloma disease_ontology DOID:3172 papillary adenoma DOID:3172 A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth. NCI:C40112 UMLS_CUI:C1517123 disease_ontology DOID:3173 fallopian tube serous papilloma DOID:3173 A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth. url:https://en.wikipedia.org/wiki/Papilloma url:https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=true&q=serous ICDO:8051/0 NCI:C4101 SNOMEDCT_US_2023_03_01:48218007 UMLS_CUI:C0334243 disease_ontology DOID:3177 verrucous papilloma DOID:3177 A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk. NCI:C4614 SNOMEDCT_US_2023_03_01:189051001 UMLS_CUI:C0347390 cutaneous papilloma papilloma of skin disease_ontology DOID:3178 skin papilloma DOID:3178 A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk. url:https://www.ncbi.nlm.nih.gov/books/NBK560737/ MESH:D018308 NCI:C3793 SNOMEDCT_US_2023_03_01:104081000119103 UMLS_CUI:C0206721 Inverted papilloma, squamous cell disease_ontology DOID:3179 inverted papilloma DOID:3179 ICD9CM:335.21 MESH:D009134 NCI:C85027 SNOMEDCT_US_2023_03_01:88923002 UMLS_CUI:C0917981 Pure progressive muscular atrophy progressive spinal muscular atrophy disease_ontology DOID:318 progressive muscular atrophy DOID:318 DOID:3182 GARD:9953 ICDO:9450/3 MESH:D009837 NCI:C3288 UMLS_CUI:C0751396 oligodendroglial neoplasm oligodendroglial tumor disease_ontology DOID:3181 oligodendroglioma MESH:D009837 DOID:3181 MESH:D009837 NCI:C4045 UMLS_CUI:C0280475 pediatric Oligodendroglioma disease_ontology DOID:3183 childhood oligodendroglioma DOID:3183 NCI:C4535 SNOMEDCT_US_2023_03_01:254950006 UMLS_CUI:C0346295 Oligodendroglioma of spinal cord Well differentiated Spinal Cord Oligodendroglioma disease_ontology DOID:3184 spinal cord oligodendroglioma DOID:3184 A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells. NCI:C4534 SNOMEDCT_US_2023_03_01:254946004 UMLS_CUI:C2937245 Glial neoplasm Spinal Cord Glial tumor of spinal cord glioma of spinal cord disease_ontology DOID:3185 spinal cord glioma DOID:3185 A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells. url:http://www.cancer.gov/dictionary?CdrID=45700 DOID:7355 MESH:D009837 NCI:C4014 NCI:C9376 UMLS_CUI:C0279070 UMLS_CUI:C1332190 adult brain oligodendroglioma grade II adult Oligodendroglial tumor disease_ontology DOID:3186 adult oligodendroglioma DOID:3186 A brain glioma that has_material_basis_in oligodendrocytes. NCI:C9377 SNOMEDCT_US_2023_03_01:254940005 UMLS_CUI:C0346286 Oligodendroglioma of brain disease_ontology DOID:3187 brain oligodendroglioma DOID:3187 A brain glioma that has_material_basis_in oligodendrocytes. url:http://www.cancer.gov/dictionary?CdrID=46257 ICD10CM:G95.9 ICD9CM:336.9 MESH:D013118 NCI:C97110 SNOMEDCT_US_2023_03_01:48522003 UMLS_CUI:C0037928 disease_ontology myelopathy DOID:319 spinal cord disease DOID:319 A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies. GARD:12033 ICD10CM:G71.21 MESH:D017696 MIM:PS161800 ORDO:607 SNOMEDCT_US_2023_03_01:75072002 UMLS_CUI:C0206157 Nemaline body disease nemaline rod myopathy rod body disease rod myopathy disease_ontology DOID:3191 Xref MGI. nemaline myopathy DOID:3191 A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies. url:http://en.wikipedia.org/wiki/Nemaline_myopathy url:http://ghr.nlm.nih.gov/condition/nemaline-myopathy url:https://www.mda.org/disease/congenital-myopathies/types/nemaline-myopathy url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells. DOID:955 ICDO:9560/3 MESH:D009442 NCI:C3269 SNOMEDCT_US_2023_03_01:985004 UMLS_CUI:C0027809 Psammomatous schwannoma schwannoma disease_ontology DOID:3192 neurilemmoma DOID:3192 A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells. url:https://en.wikipedia.org/wiki/Schwannoma A peripheral nervous system neoplasm that is located in the connective tissue surrounding nerves. MESH:D018317 UMLS_CUI:C0751689 neoplasm of the nerve Sheath nerve sheath tumour disease_ontology DOID:3193 peripheral nerve sheath neoplasm DOID:3193 A peripheral nervous system neoplasm that is located in the connective tissue surrounding nerves. url:http://en.wikipedia.org/wiki/Malignant_peripheral_nerve_sheath_tumor A neurilemmoma with a predominantly cellular growth but no Verocay bodies. NCI:C4724 SNOMEDCT_US_2023_03_01:253086004 UMLS_CUI:C0431124 cellular Neurinoma disease_ontology DOID:3196 cellular schwannoma DOID:3196 A neurilemmoma with a predominantly cellular growth but no Verocay bodies. url:https://www.ncbi.nlm.nih.gov/pubmed/2400975 A neurilemmoma that is located_in the 12th cranial nerve. NCI:C5434 UMLS_CUI:C1335928 Hypoglossal Schwannoma disease_ontology DOID:3197 schwannoma of twelfth cranial nerve DOID:3197 A neurilemmoma that is located_in the 12th cranial nerve. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078147/ NCI:C5830 SNOMEDCT_US_2023_03_01:126978008 UMLS_CUI:C1263903 neoplasm of hypoglossal nerve tumor of Hypoglossal nerve disease_ontology DOID:3198 hypoglossal nerve neoplasm DOID:3198 NCI:C5413 UMLS_CUI:C1332905 Cerebellopontine Angle Neurinoma disease_ontology DOID:3199 C-P angle neurinoma DOID:3199 ICD10CM:G95.1 ICD9CM:336.1 SNOMEDCT_US_2023_03_01:29774004 UMLS_CUI:C0154685 vascular myelopathies disease_ontology DOID:320 vascular myelopathy DOID:320 A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopontine angle. NCI:C5414 cerebellopontine angle tumour neoplasm of the Cerebellopontine Angle disease_ontology DOID:3200 cerebellopontine angle tumor DOID:3200 A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopontine angle. url:https://en.wikipedia.org/wiki/Cerebellopontine_angle_syndrome NCI:C5421 UMLS_CUI:C1336543 disease_ontology DOID:3201 sympathetic neurilemmoma DOID:3201 NCI:C4655 SNOMEDCT_US_2023_03_01:277185000 UMLS_CUI:C0349582 Trigeminal Neurilemmoma Trigeminal schwannoma disease_ontology DOID:3202 neurilemmoma of the fifth cranial nerve DOID:3202 NCI:C5321 UMLS_CUI:C4054526 disease_ontology DOID:3203 macrocystic neurilemmoma DOID:3203 A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors. ICD10CM:Q85.03 ICD9CM:237.73 ICDO:9560/1 MESH:C536641 MIM:PS162091 NCI:C6557 ORDO:93921 SNOMEDCT_US_2023_03_01:781641005 UMLS_CUI:C1335929 SWN neurilemmomatosis neurinomatosis disease_ontology DOID:3204 schwannomatosis ORDO:634518 ICD10CM:Q85.03 ICD9CM:237.73 ICDO:9560/1 MESH:C536641 MIM:PS162091 NCI:C6557 ORDO:93921 SNOMEDCT_US_2023_03_01:781641005 UMLS_CUI:C1335929 ORDO:634492 DOID:3204 A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors. url:https://health.ucdavis.edu/mindinstitute/clinic/genomic-medicine/RASclinic.html url:https://pubmed.ncbi.nlm.nih.gov/35674741/ SWN NCI:C6970 SNOMEDCT_US_2023_03_01:253088003 UMLS_CUI:C1306247 Melanotic Schwannoma Pigmented Neurilemmoma Pigmented schwannoma disease_ontology DOID:3205 melanotic neurilemmoma DOID:3205 NCI:C6969 SNOMEDCT_US_2023_03_01:404025004 UMLS_CUI:C1370659 Plexiform Neurinoma Plexiform neurilemmoma disease_ontology DOID:3206 plexiform schwannoma DOID:3206 disease_ontology DOID:3208 obsolete sensation disorder true DOID:3208 An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin. GARD:2152 MESH:D016109 NCI:C90598 SNOMEDCT_US_2023_03_01:76905008 UMLS_CUI:C0079301 congenital junctional epidermolysis bullosa disease_ontology DOID:3209 Xref MGI. junctional epidermolysis bullosa DOID:3209 An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin. url:https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa#genes A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms. ICD10CM:G04.1 MESH:D015493 MIM:159580 NCI:C179058 SNOMEDCT_US_2023_03_01:45129002 UMLS_CUI:C0030481 HAM/TSP HTLV-associated myelopathy Tropical spastic paralysis Tropical spastic paraplegia tropical spastic paraparesis disease_ontology DOID:321 OMIM mapping confirmed by DO. [LS]. HTLV-1-associated myelopathy/tropical spastic paraparesis DOID:321 A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms. url:http://en.wikipedia.org/wiki/Tropical_spastic_paraparesis url:https://www.merckmanuals.com/professional/neurologic-disorders/spinal-cord-disorders/htlv-1-associated-myelopathy-tropical-spastic-paraparesis-ham-tsp url:https://www.ncbi.nlm.nih.gov/books/NBK560825/ url:https://www.ninds.nih.gov/health-information/disorders/htlv-1-associated-myelopathy-hamtropical-spastic-paraparesis-tsp HAM/TSP A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22. GARD:4265 MESH:D020371 MIM:312080 NCI:C75487 ORDO:702 SNOMEDCT_US_2023_03_01:64855000 UMLS_CUI:C0205711 HLD1 Leukodystrophy, sudanophilic PMD Pelizaeus Merzbacher brain sclerosis Pelizaeus-Merzbacher brain sclerosis diffuse familial brain sclerosis hypomyelinating leukodystrophy 1 sudanophilic leukodystrophy, Paelizeus-Merzbacher type disease_ontology DOID:3210 Pelizaeus-Merzbacher disease DOID:3210 A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22. url:https://www.ncbi.nlm.nih.gov/books/NBK560522/ url:https://www.ncbi.nlm.nih.gov/pubmed/15627202 url:https://www.ncbi.nlm.nih.gov/pubmed/2773936 url:https://www.ncbi.nlm.nih.gov/pubmed/3476455 HLD1 PMD An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. MESH:D016464 NCI:C61250 SNOMEDCT_US_2023_03_01:23585005 UMLS_CUI:C0085078 disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder disease_ontology DOID:3211 lysosomal storage disease DOID:3211 An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. url:http://en.wikipedia.org/wiki/Lysosomal_storage_disease disease_ontology DOID:3212 obsolete hereditary central nervous system demyelinating disease true DOID:3212 A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons. MESH:D003711 NCI:C34527 UMLS_CUI:C0011303 demyelinating disorder disease_ontology DOID:3213 demyelinating disease DOID:3213 A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons. url:https://www.ncbi.nlm.nih.gov/pubmed/17071802 A Varicellovirus infectious disease that results_in infection in cattle, located_in upper respiratory tract, and located_in genital tract, has_material_basis_in Bovine herpesvirus 1, has_symptom nasal discharge, has_symptom fever, has_symptom abortion, and has_symptom conjunctivitis. Infectious bovine rhinotracheitis (disorder) disease_ontology DOID:3215 obsolete infectious bovine rhinotracheitis true DOID:3215 A Varicellovirus infectious disease that results_in infection in cattle, located_in upper respiratory tract, and located_in genital tract, has_material_basis_in Bovine herpesvirus 1, has_symptom nasal discharge, has_symptom fever, has_symptom abortion, and has_symptom conjunctivitis. url:http://www.oie.int/eng/normes/mmanual/2008/pdf/2.04.13_IBR_IPV.pdf url:http://www.thecattlesite.com/diseaseinfo/174/infectious-bovine-rhinotracheitis-ibr NCI:C5787 UMLS_CUI:C1334297 Somatosatinoma of Jejunum jejunal delta cell somatostatin producing tumor disease_ontology DOID:3216 jejunal somatostatinoma DOID:3216 disease_ontology DOID:3217 obsolete small intestinal delta cell somatostatin producing tumor true DOID:3217 MESH:D007580 NCI:C8401 SNOMEDCT_US_2023_03_01:254575004 UMLS_CUI:C0022374 Jejunal tumor neoplasm of jejunum tumor of jejunum disease_ontology DOID:3218 jejunal neoplasm DOID:3218 A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord. GARD:7130 MESH:D009187 NCI:C26832 SNOMEDCT_US_2023_03_01:192682002 UMLS_CUI:C0026975 disease_ontology DOID:322 myelitis DOID:322 A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord. url:https://en.wikipedia.org/wiki/Myelitis MESH:D002422 NCI:C121572 SNOMEDCT_US_2023_03_01:247397004 UMLS_CUI:C0007462 Complex regional pain syndrome, type II disease_ontology DOID:3222 causalgia DOID:3222 GARD:4647 MESH:D020918 SNOMEDCT_US_2023_03_01:128200000 UMLS_CUI:C0458219 Complex regional pain syndromes disease_ontology DOID:3223 complex regional pain syndrome DOID:3223 ICD10CM:S12.8 MESH:D014133 NCI:C35079 SNOMEDCT_US_2023_03_01:47125007 UMLS_CUI:C0040580 disease_ontology DOID:3225 tracheal disease DOID:3225 MESH:D014135 NCI:C78646 SNOMEDCT_US_2023_03_01:11296007 UMLS_CUI:C0040583 Stenosis of trachea disease_ontology DOID:3227 tracheal stenosis MESH:D014135 DOID:3227 MESH:D013271 UMLS_CUI:C0038353 stomach dilatation disease_ontology DOID:3229 gastric dilatation DOID:3229 A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder. DOID:2931 HTLV-1 infectious disease HTLV-I infectious disease disease_ontology DOID:323 obsolete Human T-lymphotropic virus 1 infectious disease true DOID:323 A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder. url:http://emedicine.medscape.com/article/219285-overview MESH:D006610 UMLS_CUI:C0019537 disease_ontology DOID:3230 high pressure neurological syndrome DOID:3230 occupational disorder disease_ontology DOID:3231 obsolete occupational disease true DOID:3231 A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system. DOID:3233 ICD9CM:200.5 NCI:C9301 SNOMEDCT_US_2023_03_01:69110006 UMLS_CUI:C0280803 Microglioma primary CNS lymphoma disease_ontology DOID:3234 central nervous system lymphoma DOID:3234 A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system. url:https://www.lls.org/lymphoma/non-hodgkin-lymphoma/treatment/treatment-for-aggressive-nhl-subtypes/central-nervous-system-cns-lymphoma DOID:2416 spindle cell nevus spindle cell nevus (disorder) spindle cell nevus (morphologic abnormality) spindle cell nevus of Reed disease_ontology DOID:3239 obsolete pigmented spindle cell nevus true DOID:3239 A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disease has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration. DOID:13016 DOID:13506 ICD10CM:J69.0 MESH:D011015 SNOMEDCT_US_2023_03_01:47839005 UMLS_CUI:C0032290 Chemical pneumonitis Mendelson's Syndrome disease_ontology DOID:3240 aspiration pneumonitis DOID:3240 A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disease has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration. url:http://www.nejm.org/doi/full/10.1056/NEJM200103013440908 An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent. DOID:13015 ICD10CM:J69.1 MESH:D011017 SNOMEDCT_US_2023_03_01:196038008 UMLS_CUI:C0032298 Exogenous lipoid pneumonia Lipoid pneumonitis disease_ontology DOID:3241 lipid pneumonia DOID:3241 An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent. url:http://en.wikipedia.org/wiki/Lipid_pneumonia A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs. GARD:4702 ICDO:8910/3 MESH:D018233 MIM:268210 NCI:C8971 ORDO:99757 SNOMEDCT_US_2023_03_01:404051002 UMLS_CUI:C0206656 disease_ontology DOID:3246 Xref MGI. embryonal rhabdomyosarcoma DOID:3246 A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs. url:http://en.wikipedia.org/wiki/Embryonal_rhabdomyosarcoma url:http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/Patient/page1 A skeletal muscle cancer that arise from skeletal muscle progenitors. ICDO:8900/3 MESH:D012208 NCI:C3359 SNOMEDCT_US_2023_03_01:302847003 UMLS_CUI:C0035412 disease_ontology DOID:3247 rhabdomyosarcoma DOID:3247 A skeletal muscle cancer that arise from skeletal muscle progenitors. url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma url:https://pmc.ncbi.nlm.nih.gov/articles/PMC9425116/ ICDO:8901/3 NCI:C4258 SNOMEDCT_US_2023_03_01:404054005 UMLS_CUI:C0334480 Pleomorphic rhabdomyosarcoma, adult type anaplastic Rhabdomyosarcoma disease_ontology DOID:3250 pleomorphic rhabdomyosarcoma DOID:3250 A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone. NCI:C5525 UMLS_CUI:C1335508 Embryonal Rhabdomyosarcoma of the prostate disease_ontology DOID:3251 prostate embryonal rhabdomyosarcoma DOID:3251 A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863144/ A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate. NCI:C5522 UMLS_CUI:C1335518 Rhabdomyosarcoma of the prostate disease_ontology DOID:3252 prostate rhabdomyosarcoma DOID:3252 A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate. url:https://www.ncbi.nlm.nih.gov/pubmed/26776454 url:https://www.ncbi.nlm.nih.gov/pubmed/29468476 NCI:C5847 UMLS_CUI:C1333505 disease_ontology DOID:3253 embryonal extrahepatic bile duct rhabdomyosarcoma DOID:3253 A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct. NCI:C5860 UMLS_CUI:C2064434 rhabdomyosarcoma of the bile duct disease_ontology DOID:3254 bile duct rhabdomyosarcoma DOID:3254 A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct. url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma NCI:C9150 SNOMEDCT_US_2023_03_01:14269005 UMLS_CUI:C1306573 Botryoid sarcoma Botryoid-type Embryonal Rhabdomyosarcoma sarcoma botryoides disease_ontology DOID:3255 botryoid rhabdomyosarcoma DOID:3255 pediatric Embryonal Rhabdomyosarcoma disease_ontology DOID:3256 obsolete embryonal childhood rhabdomyosarcoma true DOID:3256 disease_ontology DOID:3257 obsolete pediatric rhabdomyosarcoma true DOID:3257 An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei. NCI:C6246 UMLS_CUI:C1335127 Embryonal Rhabdomyosarcoma of the orbit disease_ontology DOID:3258 orbit embryonal rhabdomyosarcoma DOID:3258 An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/ An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children. MESH:C537605 NCI:C4543 SNOMEDCT_US_2023_03_01:254994000 UMLS_CUI:C0346347 Rhabdomyosarcoma of orbit Rhabdomyosarcoma of the orbit disease_ontology DOID:3259 orbit rhabdomyosarcoma DOID:3259 An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children. url:https://eyewiki.aao.org/Orbital_Rhabdomyosarcoma url:https://link.springer.com/chapter/10.1007/978-1-4613-2029-6_14 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/ A vascular disease that is characterized by a restriction in blood supply to tissues. MESH:D007511 NCI:C34738 SNOMEDCT_US_2023_03_01:52674009 UMLS_CUI:C0022116 disease_ontology DOID:326 ischemia DOID:326 A vascular disease that is characterized by a restriction in blood supply to tissues. url:http://en.wikipedia.org/wiki/Ischemia A rhabdomyosarcoma that is characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck. ICDO:8912/3 NCI:C6519 SNOMEDCT_US_2023_03_01:404055006 UMLS_CUI:C1266134 Sclerosing rhabdomyosarcoma Spindle Cell/Sclerosing Rhabdomyosarcoma Synonym Rhabdomyosarcoma, spindle cell/sclerosing type disease_ontology DOID:3260 spindle cell rhabdomyosarcoma DOID:3260 A rhabdomyosarcoma that is characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck. url:https://pubmed.ncbi.nlm.nih.gov/34958505/ A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21. GARD:6800 MESH:D007589 MIM:147060 NCI:C126342 NCI:C126343 ORDO:2314 UMLS_CUI:C1968689 UMLS_CUI:C2936739 Job syndrome Job's syndrome STAT3 Hyper IgE syndrome hyperimmunoglobulin E syndrome disease_ontology DOID:3261 nomenclature update Oct 2024 [LS]. hyper IgE recurrent infection syndrome 1 DOID:3261 A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21. url:https://www.ncbi.nlm.nih.gov/books/NBK25507/ url:https://www.niaid.nih.gov/diseases-conditions/stat3-dominant-negative-disease A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection. MESH:D010585 UMLS_CUI:C0031306 phagocytic dysfunction disease_ontology DOID:3262 phagocyte bactericidal dysfunction MESH:D010585 DOID:3262 A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection. url:http://en.wikipedia.org/wiki/Phagocyte_bactericidal_dysfunction An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12. GARD:4344 ICD10CM:E70.39 MESH:D016116 MIM:172800 NCI:C85009 ORDO:2884 SNOMEDCT_US_2023_03_01:718122005 UMLS_CUI:C0080024 PIEBALD TRAIT Partial albinism disease_ontology DOID:3263 This disease previously was thought to also have material basis in the SNAI2 gene but that gene likely does not contribute to this disease (see PMID:32975012). piebaldism DOID:3263 An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12. url:https://pubmed.ncbi.nlm.nih.gov/32975012/ url:https://www.ncbi.nlm.nih.gov/pubmed/15485525 url:https://www.ncbi.nlm.nih.gov/pubmed/1717985 A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity. ICD9CM:208.2 SNOMEDCT_US_2023_03_01:49432002 UMLS_CUI:C0153924 disease_ontology DOID:3264 subacute leukemia DOID:3264 A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity. url:http://www.wrongdiagnosis.com/medical/subacute.htm A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed. GARD:6100 ICD10CM:D71 MESH:D006105 MIM:PS306400 NCI:C26788 ORDO:379 SNOMEDCT_US_2023_03_01:11210002 UMLS_CUI:C0018203 Bridges-Good syndrome CGD Congenital dysphagocytosis Quie syndrome disease_ontology DOID:3265 Xref MGI. OMIM mapping confirmed by DO. [SN]. chronic granulomatous disease DOID:3265 A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed. url:http://en.wikipedia.org/wiki/Chronic_granulomatous_disease url:https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/ url:https://rarediseases.org/rare-diseases/chronic-granulomatous-disease/ url:https://www.ncbi.nlm.nih.gov/books/NBK99496/ CGD An ovarian cystadenoma that is characterized by the presence of mucin. NCI:C4512 SNOMEDCT_US_2023_03_01:119422004 UMLS_CUI:C0346172 Ovarian mucinous Cystadenoma mucinous cystadenoma of ovary disease_ontology DOID:3267 mucinous ovarian cystadenoma DOID:3267 An ovarian cystadenoma that is characterized by the presence of mucin. url:https://www.ncbi.nlm.nih.gov/pubmed/22476372 An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed. NCI:C4060 SNOMEDCT_US_2023_03_01:198297004 UMLS_CUI:C0346169 Cystoma Serosum simplex simple cystoma of ovary simple cystoma of the ovary disease_ontology DOID:3269 ovarian cystadenoma DOID:3269 An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed. url:https://www.ncbi.nlm.nih.gov/pubmed/27244785 GARD:7725 MESH:D013595 MIM:186700 NCI:C85179 ORDO:3280 SNOMEDCT_US_2023_03_01:155020007 UMLS_CUI:C0039144 disease_ontology DOID:327 syringomyelia DOID:327 A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia. DOID:8101 DOID:8112 NCI:C8365 SNOMEDCT_US_2023_03_01:35813005 UMLS_CUI:C0334056 Fibrocystic change, proliferative type with atypia Fibrocystic disease, Proliferative type with Atypia Proliferating Lesion of breast without Atypia Proliferating Lesion of the breast without Atypia Proliferative Fibrocystic Change disease_ontology DOID:3274 proliferative type fibrocystic change of breast DOID:3274 A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia. url:https://pubmed.ncbi.nlm.nih.gov/34967547/ A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus. ICDO:8580/3 MESH:D013945 NCI:C3411 SNOMEDCT_US_2023_03_01:444231005 UMLS_CUI:C0040100 disease_ontology DOID:3275 thymoma DOID:3275 A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus. url:http://cancergenome.nih.gov/cancersselected/Thymoma url:http://en.wikipedia.org/wiki/Thymoma url:http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1 Thymic Epithelium neoplasm Thymic epithelial neoplasm (morphologic abnormality) disease_ontology epithelial neoplasm of thymus DOID:3276 obsolete thymus epithelial cancer true DOID:3276 An immune system cancer located_in the thymus. DOID:10143 ICD10CM:C37 ICD9CM:164.0 MESH:D013953 NCI:C4962 SNOMEDCT_US_2023_03_01:94096009 UMLS_CUI:C0751552 Thymic tumor neoplasm of thymus thymic neoplasm disease_ontology DOID:3277 thymus cancer DOID:3277 An immune system cancer located_in the thymus. url:http://en.wikipedia.org/wiki/Thymus NCI:C7386 UMLS_CUI:C1333383 disease_ontology DOID:3278 encapsulated thymoma DOID:3278 NCI:C6454 SNOMEDCT_US_2023_03_01:1144928005 UMLS_CUI:C1266091 Medullary Thymoma Thymoma, medullary disease_ontology DOID:3279 spindle cell thymoma DOID:3279 NCI:C6885 SNOMEDCT_US_2023_03_01:1144922006 UMLS_CUI:C1266092 Thymoma, mixed type disease_ontology DOID:3280 mixed type thymoma DOID:3280 disease_ontology DOID:3281 combined thymoma DOID:3281 A thymoma that is an epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. NCI:C7114 ORDO:263317 SNOMEDCT_US_2023_03_01:1144924007 UMLS_CUI:C1328042 dendritic cell thymoma epithelioid Thymoma disease_ontology DOID:3282 thymoma type B DOID:3282 A thymoma that is an epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9964105/ NCI:C6453 UMLS_CUI:C0278846 Infiltrating Thymoma Thymoma malignant Invasive disease_ontology DOID:3283 invasive malignant thymoma DOID:3283 A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found. ICDO:8586/3 MESH:D013945 NCI:C7569 SNOMEDCT_US_2023_03_01:128717008 UMLS_CUI:C0205969 Thymoma, malignant malignant Thymoma disease_ontology DOID:3284 thymic carcinoma DOID:3284 A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found. url:http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1 A viral infectious disease that results in infection of primates, rodents and humans, located in skin, has_material_basis_in Monkeypox virus (Orthopoxvirus monkeypox), which is transmitted by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted by fomites, and transmitted by respiratory droplets. The infection has symptom fever, has symptom muscle ache, has symptom headache, and has symptom lymphadenopathy. GARD:10722 ICD10CM:B04 ICD9CM:059.01 MESH:D045908 NCI:C128421 SNOMEDCT_US_2023_03_01:240466002 UMLS_CUI:C0276180 monkeypox disease_ontology DOID:3292 November 2022 WHO name update. mpox DOID:3292 A viral infectious disease that results in infection of primates, rodents and humans, located in skin, has_material_basis_in Monkeypox virus (Orthopoxvirus monkeypox), which is transmitted by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted by fomites, and transmitted by respiratory droplets. The infection has symptom fever, has symptom muscle ache, has symptom headache, and has symptom lymphadenopathy. url:http://www.cdc.gov/ncidod/monkeypox/factsheet2.htm url:https://www.who.int/news/item/28-11-2022-who-recommends-new-name-for-monkeypox-disease A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy. disease_ontology DOID:3293 obsolete lumpy skin disease true DOID:3293 A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/lumpy_skin_disease.pdf A viral infectious disease results_in infection located_in skin, or located_in mucous membranes of the mouth, oesophagus, larynx or trachea of birds, has_material_basis_in Fowlpox virus, has_symptom lesions on the skin, has_symptom diphtheritic lesions in the upper parts of the digestive and respiratory tracts. disease_ontology DOID:3295 obsolete fowlpox true DOID:3295 A viral infectious disease results_in infection located_in skin, or located_in mucous membranes of the mouth, oesophagus, larynx or trachea of birds, has_material_basis_in Fowlpox virus, has_symptom lesions on the skin, has_symptom diphtheritic lesions in the upper parts of the digestive and respiratory tracts. url:http://www.oie.int/eng/normes/mmanual/2008/pdf/2.03.10_FOWLPOX.pdf A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin. Mousepox (disorder) disease_ontology DOID:3296 obsolete infectious ectromelia true DOID:3296 A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin. url:http://books.google.com/books?id=I62ZO_-4cjwC&pg=PA186&lpg url:http://www.virologyj.com/content/6/1/151 A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties. disease_ontology DOID:3297 obsolete infectious myxomatosis true DOID:3297 A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties. url:http://books.google.com/books?id=Qz-3V6_TatUC&pg=PA177&lpg=PA177&dq#v=onepage&q&f=false A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus (Orthopoxvirus vaccinia), which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches. MESH:D014615 SNOMEDCT_US_2023_03_01:111852003 UMLS_CUI:C0042214 disease_ontology DOID:3298 vaccinia DOID:3298 A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus (Orthopoxvirus vaccinia), which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches. url:http://en.wikipedia.org/wiki/Vaccinia url:https://pmc.ncbi.nlm.nih.gov/articles/PMC3945082/ url:https://www.cdc.gov/smallpox/vaccines/ Pasteurella pseudotuberculosis infection Pseudotuberculosis Pseudotuberculosis (disorder) disease_ontology DOID:3299 obsolete Yersinia pseudotuberculosis infectious disease true DOID:3299 Yersiniosis (disorder) Yersiniosis [Ambiguous] disease_ontology DOID:3300 obsolete Yersinia infectious disease true DOID:3300 A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells). ICDO:9073/1 MESH:D018238 MIM:424500 NCI:C3754 SNOMEDCT_US_2023_03_01:74751003 UMLS_CUI:C0206661 disease_ontology DOID:3301 OMIM mapping confirmed by DO. [SN]. gonadoblastoma DOID:3301 A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells). url:http://en.wikipedia.org/wiki/Gonadoblastoma A notochordal cancer that derives_from cellular remnants of the notochord. GARD:1303 ICDO:9370/3 MESH:D002817 NCI:C2947 SNOMEDCT_US_2023_03_01:50007008 UMLS_CUI:C0008487 notochordoma disease_ontology DOID:3302 OMIM mapping confirmed by DO. [SN]. chordoma DOID:3302 A notochordal cancer that derives_from cellular remnants of the notochord. url:http://en.wikipedia.org/wiki/Chordoma An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord. NCI:C7063 UMLS_CUI:C1335069 disease_ontology notochordal tumor DOID:3303 notochordal cancer DOID:3303 An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord. url:http://en.wikipedia.org/wiki/Notochord A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain. ICDO:9064/3 MESH:D018237 SNOMEDCT_US_2023_03_01:154603000 UMLS_CUI:C0206660 disease_ontology DOID:3304 germinoma DOID:3304 A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain. url:http://en.wikipedia.org/wiki/Germinoma url:https://en.wikipedia.org/wiki/Germinoma A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both. ICDO:9081/3 MESH:D018243 NCI:C3756 SNOMEDCT_US_2023_03_01:67830002 UMLS_CUI:C0206664 mixed Embryonal carcinoma and teratoma disease_ontology DOID:3305 teratocarcinoma DOID:3305 A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both. url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed A germ cell cancer that occurs in many forms. ICDO:9085/3 NCI:C4290 SNOMEDCT_US_2023_03_01:189853002 UMLS_CUI:C0334524 mixed germ cell neoplasm mixed germ cell tumor mixed germ cell tumour mixed teratoma and seminoma disease_ontology DOID:3306 mixed germ cell cancer DOID:3306 A germ cell cancer that occurs in many forms. url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. ICDO:9080/3 MESH:D013724 NCI:C3403 SNOMEDCT_US_2023_03_01:36591000119102 UMLS_CUI:C0039538 disease_ontology DOID:3307 teratoma DOID:3307 A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. url:http://en.wikipedia.org/wiki/Teratoma An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes. DOID:5676 GARD:5140 ICDO:9070/3 MESH:D018236 NCI:C3752 NCI:C8880 SNOMEDCT_US_2023_03_01:1156454002 UMLS_CUI:C0206659 UMLS_CUI:C0855159 primary extragonadal embryonal carcinoma disease_ontology DOID:3308 embryonal carcinoma DOID:3308 An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma A dermatitis that is characterized by chronic itching or scaling. MESH:D009450 NCI:C111963 SNOMEDCT_US_2023_03_01:156383005 UMLS_CUI:C0027822 disease_ontology DOID:3309 neurodermatitis DOID:3309 A dermatitis that is characterized by chronic itching or scaling. url:https://www.mayoclinic.org/diseases-conditions/neurodermatitis/symptoms-causes/syc-20375634 A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. ICD10CM:G96.9 MESH:D002493 NCI:C2934 SNOMEDCT_US_2023_03_01:267144009 UMLS_CUI:C0007682 disease_ontology DOID:331 central nervous system disease DOID:331 A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. url:http://en.wikipedia.org/wiki/Central_nervous_system_disease An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. EFO:0000274 ICD10CM:L20 MESH:D003876 MIM:603165 MIM:PS603165 SNOMEDCT_US_2023_03_01:156331003 UMLS_CUI:C0011615 Atopic neurodermatitis Besnier's prurigo allergic dermatitis atopic eczema disease_ontology DOID:3310 Xref MGI. OMIM mapping confirmed by DO. [SN]. atopic dermatitis DOID:3310 An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. url:http://en.wikipedia.org/wiki/Atopic_dermatitis ls:IEDB A mood disorder that involves alternating periods of mania and depression. DOID:3311 DOID:9554 DOID:9555 GARD:10249 ICD10CM:F31 ICD9CM:296.40 ICD9CM:296.60 ICD9CM:296.80 MESH:D001714 NCI:C34423 NCI:C34424 NCI:C34805 SNOMEDCT_US_2023_03_01:16506000 SNOMEDCT_US_2023_03_01:191627008 SNOMEDCT_US_2023_03_01:192355004 SNOMEDCT_US_2023_03_01:68569003 UMLS_CUI:C0005586 UMLS_CUI:C0005587 UMLS_CUI:C0024713 UMLS_CUI:C0236780 Manic Bipolar Affective disorder Manic Depressive disorder Manic bipolar I disorder bipolar depression bipolar disorder manic phase manic depression manic disorder mixed bipolar disorder disease_ontology Depressive-manic psych. DOID:3312 bipolar disorder DOID:3312 A mood disorder that involves alternating periods of mania and depression. url:http://en.wikipedia.org/wiki/Mood_disorder A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells. ICDO:8860/0 MESH:D018207 NCI:C3734 SNOMEDCT_US_2023_03_01:19929002 UMLS_CUI:C0206633 disease_ontology DOID:3314 angiomyolipoma MESH:D018207 DOID:3314 A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells. url:http://en.wikipedia.org/wiki/Angiomyolipoma url:https://www.ncbi.nlm.nih.gov/pubmed/9503504 A cell type benign neoplasm that is composed of lipocytes. DOID:3154 DOID:9291 ICD10CM:D17 ICD10CM:D17.9 ICD9CM:214 ICDO:8850/0 MESH:D008067 MESH:D018205 NCI:C3192 NCI:C4248 NCI:C4502 SNOMEDCT_US_2023_03_01:115227001 SNOMEDCT_US_2023_03_01:154612003 SNOMEDCT_US_2023_03_01:254830006 UMLS_CUI:C0023798 UMLS_CUI:C0206631 UMLS_CUI:C0346118 Lipomatous neoplasm Lipomatous tumor benign lipomatous tumor benign tumor of Adipose tissue tumor of adipose tissue disease_ontology multiple lipomatosis DOID:3315 OMIM mapping confirmed by DO. [SN]. lipoma DOID:3315 A cell type benign neoplasm that is composed of lipocytes. url:http://en.wikipedia.org/wiki/Benign_tumor DOID:5234 NCI:C6528 NCI:C6530 UMLS_CUI:C1334611 UMLS_CUI:C1335392 malignant perivascular cancer disease_ontology DOID:3316 perivascular tumor DOID:3316 NCI:C27485 SNOMEDCT_US_2023_03_01:1196904007 UMLS_CUI:C1333962 disease_ontology DOID:3317 hepatic angiomyolipoma DOID:3317 NCI:C38151 SNOMEDCT_US_2021_09_01:733836008 Epithelioid angiomyolipoma disease_ontology DOID:3318 epithelioid type angiomyolipoma DOID:3318 A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas. DOID:3682 GARD:3319 ICDO:9174/1 MIM:606690 NCI:C38153 ORDO:538 SNOMEDCT_US_2023_03_01:277844007 UMLS_CUI:C0349649 lung lymphangioleiomyomatosis lymphangiomyomatosis pulmonary lymphangioleiomyomatosis disease_ontology DOID:3319 lymphangioleiomyomatosis MESH:D018192 DOID:3319 A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas. url:https://pubmed.ncbi.nlm.nih.gov/31610670/ A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. GARD:5786 ICD10CM:G12.21 ICD9CM:335.20 KEGG:05014 MESH:D000690 MIM:PS105400 NCI:C34373 ORDO:803 SNOMEDCT_US_2023_03_01:86044005 UMLS_CUI:C0002736 ALS Lou Gehrig's disease motor neuron disease, bulbar disease_ontology DOID:332 amyotrophic lateral sclerosis MESH:D000690 DOID:332 A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm ALS A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23. GARD:7737 ICD10CM:E75.02 MESH:D013661 MIM:272800 NCI:C85184 SNOMEDCT_US_2023_03_01:111385000 UMLS_CUI:C0039373 GM2 gangliosidosis, type 1 hexosaminidase A deficiency disease_ontology DOID:3320 OMIM mapping confirmed by DO. [SN]. Tay-Sachs disease DOID:3320 A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23. url:https://medlineplus.gov/genetics/condition/tay-sachs-disease/ url:https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease url:https://www.ncbi.nlm.nih.gov/books/NBK1218/ A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes. ICD10CM:E75.0 MESH:D020143 SNOMEDCT_US_2023_03_01:33316007 UMLS_CUI:C0268274 gangliosidosis GM2 disease_ontology DOID:3321 GM2 gangliosidosis DOID:3321 A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes. url:https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside. GARD:10891 ICD10CM:E75.19 MESH:D016537 NCI:C84739 SNOMEDCT_US_2023_03_01:32917001 UMLS_CUI:C0085131 Beta-galactosidase deficiency deficiency of beta-galactosidase gangliosidosis GM1 disease_ontology DOID:3322 OMIM mapping confirmed by DO. [SN]. GM1 gangliosidosis DOID:3322 A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside. url:https://ghr.nlm.nih.gov/condition/gm1-gangliosidosis A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13. GARD:7604 ICD10CM:E75.01 MESH:D012497 MIM:268800 NCI:C85052 SNOMEDCT_US_2023_03_01:23849003 UMLS_CUI:C0036161 Sandhoff Jatzkewitz disease disease_ontology DOID:3323 OMIM mapping confirmed by DO. [SN]. Sandhoff disease MESH:D012497 DOID:3323 A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13. url:https://ghr.nlm.nih.gov/condition/sandhoff-disease A cognitive disorder that involves a disturbance in mood as the predominant underlying feature. EFO:0004247 ICD10CM:F39 MESH:D019964 NCI:C92200 SNOMEDCT_US_2023_03_01:46206005 UMLS_CUI:C0525045 episodic mood disorder disease_ontology DOID:3324 Updating outdated UMLS CUI. mood disorder DOID:3324 A cognitive disorder that involves a disturbance in mood as the predominant underlying feature. url:https://en.wikipedia.org/wiki/Mood_disorder MESH:D011694 SNOMEDCT_US_2023_03_01:402852007 UMLS_CUI:C0034151 disease_ontology DOID:3325 hyperglobulinemic purpura DOID:3325 ICD10CM:D69.2 MESH:D011693 NCI:C78787 SNOMEDCT_US_2023_03_01:423902002 UMLS_CUI:C0034150 Purpuric disorder disease_ontology DOID:3326 purpura MESH:D011693 DOID:3326 MESH:D020938 NCI:C50847 SNOMEDCT_US_2023_03_01:128612007 UMLS_CUI:C0016399 Focal motor seizure epilepsy, focal motor disease_ontology DOID:3327 partial motor epilepsy DOID:3327 A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes. MESH:D004833 MIM:PS600512 NCI:C177244 SNOMEDCT_US_2023_03_01:84340007 UMLS_CUI:C0014556 epilepsy, temporal lobe disease_ontology DOID:3328 temporal lobe epilepsy DOID:3328 A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes. url:https://en.wikipedia.org/wiki/Temporal_lobe_epilepsy A childhood electroclinical syndrome characterized by partial seizures involving the rolandic area of the brain and electroencephalographic centrotemporal sharp waves. GARD:10287 MESH:D019305 MIM:117100 ORDO:1945 UMLS_CUI:C0376532 BCECTS benign Rolandic epilepsy benign childhood epilepsy with centrotemporal spike rolandic epilepsy sylvan seizures disease_ontology DOID:3329 benign epilepsy with centrotemporal spikes DOID:3329 A childhood electroclinical syndrome characterized by partial seizures involving the rolandic area of the brain and electroencephalographic centrotemporal sharp waves. url:https://pubmed.ncbi.nlm.nih.gov/19172991/ url:https://www.ncbi.nlm.nih.gov/books/NBK534845/ BCECTS disease_ontology DOID:333 obsolete chronic factitious illness with physical symptoms true DOID:333 MESH:D020937 UMLS_CUI:C0752322 disease_ontology DOID:3330 partial sensory epilepsy DOID:3330 A focal epilepsy that is characterized by recurring seizures that affect one hemisphere of the brain. MESH:D017034 SNOMEDCT_US_2023_03_01:230394006 UMLS_CUI:C0085541 disease_ontology DOID:3331 frontal lobe epilepsy DOID:3331 A focal epilepsy that is characterized by recurring seizures that affect one hemisphere of the brain. url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/epilepsy/focal-epilepsy A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue. MESH:D006188 UMLS_CUI:C0018477 disease_ontology DOID:3332 haemonchiasis DOID:3332 A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue. url:http://en.wikipedia.org/wiki/Haemonchus_contortus A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood. ICD10CM:F60.4 ICD9CM:301.5 MESH:D006677 NCI:C92634 SNOMEDCT_US_2023_03_01:192489002 UMLS_CUI:C0019681 disease_ontology DOID:334 histrionic personality disorder DOID:334 A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood. url:http://en.wikipedia.org/wiki/Histrionic_personality_disorder Lymphangioendothelioma, NOS lymphangioendothelioma disease_ontology DOID:3340 obsolete lymphangioendothelioma true DOID:3340 A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone. MESH:D010002 NCI:C34875 SNOMEDCT_US_2023_03_01:190451000 UMLS_CUI:C0029405 Osteitis fibrosa cystica generalisata Von Recklinghausen's bone disease hyperparathyroid bone disease disease_ontology DOID:3341 osteitis fibrosa DOID:3341 A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone. url:http://en.wikipedia.org/wiki/Osteitis_fibrosa_cystica url:http://www.nlm.nih.gov/medlineplus/ency/article/001252.htm A bone disease that results_in inflammation of the located_in bone. MESH:D010000 SNOMEDCT_US_2023_03_01:274144001 UMLS_CUI:C0029400 Inflammatory disorder of bone bone inflammatory disease osteitis disease_ontology DOID:3342 bone inflammation disease DOID:3342 A bone disease that results_in inflammation of the located_in bone. url:http://en.wikipedia.org/wiki/Osteitis url:https://www.merriam-webster.com/dictionary/osteitis#medicalDictionary A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). GARD:10670 MESH:D009081 MIM:256550 NCI:C61267 SNOMEDCT_US_2023_03_01:70528007 UMLS_CUI:C0026697 Mucolipidosis type I sialidosis disease_ontology DOID:3343 OMIM mapping submitted by NeuroDevNet. [LS]. glycoproteinosis DOID:3343 A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). url:http://en.wikipedia.org/wiki/Sialidosis url:https://en.wikipedia.org/wiki/Glycoproteinosis url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. MESH:D014973 SNOMEDCT_US_2023_03_01:63103006 UMLS_CUI:C0043325 xanthelasmatosis disease_ontology DOID:3345 xanthomatosis DOID:3345 A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. url:http://en.wikipedia.org/wiki/Xanthoma A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). DOID:183 GARD:7284 ICDO:9180/3 MESH:D012516 MESH:D018213 MIM:259500 NCI:C9145 ORDO:668 SNOMEDCT_US_2023_03_01:189878003 UMLS_CUI:C0029463 UMLS_CUI:C0206639 Osteogenic sarcoma Skeletal sarcoma bone tissue neoplasm osteoid sarcoma disease_ontology DOID:3347 OMIM mapping confirmed by DO. [SN]. osteosarcoma DOID:3347 A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). url:http://en.wikipedia.org/wiki/Osteosarcoma url:http://www.cancer.gov/dictionary?cdrid=45395 Osteogenic tumor disease_ontology DOID:3349 obsolete osteogenic neoplasm true DOID:3349 A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system. DOID:1630 NCI:C6587 NCI:C7059 UMLS_CUI:C1332517 UMLS_CUI:C1334699 benign miscellaneous mesenchymal tumor mesenchymal tumor disease_ontology DOID:3350 mesenchymal cell neoplasm DOID:3350 A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system. url:http://en.wikipedia.org/wiki/Mesenchymal_cell url:http://www.ncbi.nlm.nih.gov/books/NBK9549/ NCI:C6479 UMLS_CUI:C1332574 osseous hemangiosarcoma disease_ontology DOID:3351 bone angioendothelial sarcoma DOID:3351 NCI:C8563 UMLS_CUI:C0740479 malignant fibrous Histiocytoma of the bone disease_ontology DOID:3352 malignant fibrous histiocytoma of bone DOID:3352 A bone sarcoma characterized by a herringbone or fascicular disposition of atypical, monomorphic fibroblasts and is always negative for any specific marker. malignant fibroxanthoma malignant histiocytosis disease_ontology DOID:3354 fibrosarcoma of bone DOID:3354 A bone sarcoma characterized by a herringbone or fascicular disposition of atypical, monomorphic fibroblasts and is always negative for any specific marker. url:https://link.springer.com/chapter/10.1007/978-1-4471-6578-1_29 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732833/ url:https://www.orthobullets.com/pathology/8031/fibrosarcoma-of-bone A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. DOID:156 DOID:3509 GARD:2327 ICDO:8810/3 MESH:D005354 MESH:D018218 NCI:C3043 NCI:C6605 NCI:C7075 SNOMEDCT_US_2023_03_01:443250000 UMLS_CUI:C0016057 UMLS_CUI:C0206643 UMLS_CUI:C1336021 Fibrocytic tumor fibrosarcoma of soft tissue fibrous tissue neoplasm disease_ontology DOID:3355 fibrosarcoma DOID:3355 A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. url:http://en.wikipedia.org/wiki/Fibrosarcoma An osteosarcoma that is confined to a specific site without evidence of spread to other anatomic sites. NCI:C7780 UMLS_CUI:C0278511 localised Osteogenic sarcoma localised osteosarcoma localized Osteogenic sarcoma disease_ontology DOID:3356 localized osteosarcoma DOID:3356 An osteosarcoma that is confined to a specific site without evidence of spread to other anatomic sites. url:https://www.cancer.org/cancer/types/osteosarcoma/detection-diagnosis-staging/staging.html An osteosarcoma arising from the soft tissue. NCI:C8810 SNOMEDCT_US_2023_03_01:404077005 UMLS_CUI:C0855052 extraskeletal Osteogenic sarcoma extraskeletal osteosarcoma disease_ontology DOID:3357 extraosseous osteosarcoma DOID:3357 An osteosarcoma arising from the soft tissue. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4080674/ disease_ontology DOID:3359 obsolete malignant extraskeletal cartilaginous and osseous tumor true DOID:3359 DOID:13772 DOID:14160 DOID:14337 DOID:9887 Nontraumatic rupture of extensor tendons of hand and wrist Nontraumatic rupture of flexor tendons of hand and wrist Nontraumatic rupture of quadriceps tendon Nontraumatic rupture of tendons of biceps Nontraumatic rupture of tendons of biceps (long head) Nontraumatic rupture of tendons of biceps, long head disease_ontology DOID:336 obsolete non-traumatic tendon rupture true DOID:336 NCI:C6470 SNOMEDCT_US_2023_03_01:431371000124105 UMLS_CUI:C1334820 disease_ontology DOID:3360 multifocal osteogenic sarcoma DOID:3360 NCI:C6585 UMLS_CUI:C1332986 pediatric osteosarcoma disease_ontology DOID:3361 childhood osteosarcoma DOID:3361 GARD:6200 ICD10CM:I25.41 ICD9CM:414.11 MESH:D003323 NCI:C168176 SNOMEDCT_US_2023_03_01:50570003 UMLS_CUI:C0010051 Aneurysm of coronary vessels Aneurysmal lesion of coronary artery Arteriovenous aneurysm of coronary vessels disease_ontology DOID:3362 coronary aneurysm DOID:3362 relapsed Osteosarcoma disease_ontology DOID:3365 obsolete recurrent osteosarcoma true DOID:3365 NCI:C7154 UMLS_CUI:C1332579 disease_ontology DOID:3367 bone leiomyosarcoma DOID:3367 A peripheral primitive neuroectodermal tumor that is located_in bone. DOID:4984 DOID:6392 NCI:C35871 NCI:C4835 NCI:C6623 SNOMEDCT_US_2023_03_01:307608006 UMLS_CUI:C0585474 UMLS_CUI:C1333481 UMLS_CUI:C1334406 Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor bone Ewing sarcoma bone localized Ewing sarcoma bone localized Ewing's sarcoma localized Skeletal Ewing's sarcoma disease_ontology Ewing's sarcoma of bone bone Ewing's sarcoma DOID:3368 Ewing sarcoma of bone DOID:3368 A peripheral primitive neuroectodermal tumor that is located_in bone. url:http://en.wikipedia.org/wiki/Ewing%27s_sarcoma A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm. DOID:0050607 DOID:4158 DOID:4390 DOID:4391 DOID:4392 DOID:4980 GARD:6390 ICDO:9364/3 MESH:C563168 MESH:D012512 MESH:D018241 MIM:612219 NCI:C27901 NCI:C27903 NCI:C4817 NCI:C7542 NCI:C7806 NCI:C9341 SNOMEDCT_US_2023_03_01:134210007 SNOMEDCT_US_2023_03_01:73676002 SNOMEDCT_US_2023_03_01:76909002 UMLS_CUI:C0553580 UMLS_CUI:C0684337 UMLS_CUI:C0796547 UMLS_CUI:C0863029 UMLS_CUI:C0877849 UMLS_CUI:C1334408 Ewing's family localized tumor Ewing's sarcoma/peripheral primitive neuroectodermal tumor Ewing's tumor Ewings sarcoma Ewings sarcoma-primitive neuroectodermal tumor PNET of Thoracopulmonary Region localized Ewing sarcoma localized Ewing's sarcoma localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor localized Ewing's tumor localized peripheral primitive neuroectodermal tumor peripheral primitive neuroectodermal tumor disease_ontology DOID:3369 OMIM mapping confirmed by DO. [SN]. Ewing sarcoma DOID:3369 A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm. url:http://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor url:http://www.cancer.gov/dictionary?cdrid=383924 NCI:C5829 SNOMEDCT_US_2023_03_01:126977003 UMLS_CUI:C1263902 XIth Cranial nerve tumors neoplasm of accessory nerve disease_ontology DOID:337 spinal accessory nerve neoplasm DOID:337 A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage. DOID:3370 GARD:6004 GARD:6055 ICDO:9220/3 MESH:D002813 MIM:215300 NCI:C2946 NCI:C7155 SNOMEDCT_US_2023_03_01:443520009 SNOMEDCT_US_2023_03_01:735679005 UMLS_CUI:C0008479 UMLS_CUI:C1335473 Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone disease_ontology DOID:3371 OMIM mapping confirmed by DO. [SN]. chondrosarcoma DOID:3371 A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage. url:http://en.wikipedia.org/wiki/Chondrosarcoma ICDO:9181/3 NCI:C4021 SNOMEDCT_US_2023_03_01:76312009 UMLS_CUI:C0279603 chondrosarcomatous Osteogenic sarcoma disease_ontology DOID:3372 chondroblastic osteosarcoma DOID:3372 ICDO:9192/3 MESH:D018217 NCI:C8969 SNOMEDCT_US_2023_03_01:91242000 UMLS_CUI:C0206642 Parosteal Osteogenic sarcoma juxtacortical osteosarcoma disease_ontology DOID:3373 parosteal osteosarcoma DOID:3373 NCI:C7134 UMLS_CUI:C1332591 Surface Osteosarcoma disease_ontology DOID:3374 peripheral osteosarcoma DOID:3374 An osteosarcoma that is an usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs. DOID:8580 NCI:C53707 SNOMEDCT_US_2023_03_01:307576001 UMLS_CUI:C0585442 Osteosarcoma of bone primary Osteosarcoma of bone disease_ontology DOID:3376 bone osteosarcoma DOID:3376 An osteosarcoma that is an usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs. url:https://my.clevelandclinic.org/health/diseases/15041-osteosarcoma NCI:C4023 SNOMEDCT_US_2023_03_01:12302002 UMLS_CUI:C0279622 Round cell osteosarcoma small cell Osteosarcoma disease_ontology DOID:3377 small cell osteogenic sarcoma DOID:3377 disease_ontology DOID:3378 obsolete conventional central osteosarcoma true DOID:3378 NCI:C38157 UMLS_CUI:C1334704 disease_ontology DOID:3379 metachronous osteosarcoma of the bone DOID:3379 A central nervous system cancer develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells. neoplasm of cranial nerve disease_ontology DOID:338 obsolete cranial nerve neoplasm true DOID:338 A central nervous system cancer develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells. url:https://en.wikipedia.org/wiki/Schwannoma url:https://link.springer.com/chapter/10.1007/978-3-642-02874-8_15 NCI:C7598 UMLS_CUI:C1332581 Liposarcoma of the bone disease_ontology DOID:3381 liposarcoma of bone DOID:3381 A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities. DOID:3939 GARD:6913 ICDO:8850/3 MESH:D008080 NCI:C3194 SNOMEDCT_US_2023_03_01:254829001 UMLS_CUI:C0023827 lipomatous cancer disease_ontology DOID:3382 liposarcoma DOID:3382 A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities. url:http://en.wikipedia.org/wiki/Liposarcoma metastatic Osteogenic sarcoma disease_ontology DOID:3384 obsolete metastatic osteosarcoma true DOID:3384 A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis. MESH:D016585 NCI:C116973 SNOMEDCT_US_2023_03_01:237092002 UMLS_CUI:C0085166 disease_ontology DOID:3385 bacterial vaginosis DOID:3385 A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis. url:https://www.merriam-webster.com/dictionary/bacterial%20vaginosis#medicalDictionary A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth. ICD10CM:K05.6 MESH:D010510 NCI:C63743 SNOMEDCT_US_2023_03_01:196354003 UMLS_CUI:C0031090 disease of supporting structures of teeth periodontium disorder disease_ontology DOID:3388 periodontal disease DOID:3388 A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth. url:https://www.nidcr.nih.gov/health-info/gum-disease/more-info An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14. GARD:3100 MESH:D010214 MIM:245000 NCI:C84992 ORDO:678 SNOMEDCT_US_2023_03_01:40158001 UMLS_CUI:C0030360 Papillon Lefevre syndrome Papillon-Lefvre syndrome disease_ontology DOID:3389 OMIM mapping confirmed by DO. [SN]. Papillon-Lefevre disease DOID:3389 An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14. url:https://en.wikipedia.org/wiki/Papillon–Lefevre_syndrome url:https://www.ncbi.nlm.nih.gov/articles/PMC4507741/ A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve). ICD9CM:352.4 MESH:D020436 NCI:C26953 SNOMEDCT_US_2023_03_01:84759007 UMLS_CUI:C0152180 Eleventh nerve disorder disorder of 11th nerve disorder of accessory [11th] nerve disorder of accessory nerve disease_ontology DOID:339 accessory nerve disease DOID:339 A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve). url:https://en.wikipedia.org/wiki/Accessory_nerve_disorder A keratosis characterized by abnormal thickening of the palms and the soles. GARD:8167 ICD10CM:L85.2 SNOMEDCT_US_2023_03_01:28596004 UMLS_CUI:C0022596 Keratosis palmaris et plantaris Palmoplantar Keratoderma palmo-plantar keratodermas disease_ontology DOID:3390 palmoplantar keratosis DOID:3390 A keratosis characterized by abnormal thickening of the palms and the soles. url:http://en.wikipedia.org/wiki/Palmoplantar_keratoderma An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles. DOID:10506 DOID:3363 DOID:3394 DOID:9420 EFO:0001645 ICD10CM:I20-I25 ICD10CM:I25 ICD10CM:I25.10 ICD9CM:410-414.99 ICD9CM:414.0 ICD9CM:414.9 MESH:D003324 MESH:D003327 MESH:D017202 MIM:300464 MIM:607339 MIM:608316 MIM:608318 MIM:608320 MIM:610947 MIM:611139 MIM:612030 MIM:614293 NCI:C35505 NCI:C50625 SNOMEDCT_US_2023_03_01:194852007 SNOMEDCT_US_2023_03_01:233822007 SNOMEDCT_US_2023_03_01:41702007 SNOMEDCT_US_2023_03_01:53741008 UMLS_CUI:C0010054 UMLS_CUI:C0010068 UMLS_CUI:C0151744 UMLS_CUI:C0264694 CHD Coronary disease coronary arteriosclerosis coronary heart disease disease_ontology DOID:3393 Xref MGI. coronary artery disease DOID:3393 An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles. url:http://en.wikipedia.org/wiki/Coronary_heart_disease CHD A pituitary gland disease resulting from excessive production of antidiuretic hormone (ADH). ICD10CM:E22.2 MESH:D007177 NCI:C3988 SNOMEDCT_US_2023_03_01:55004003 UMLS_CUI:C0021141 SIADH syndrome of Inappropriate Antidiuretic Hormone Secretion syndrome of inappropriate secretion of ADH syndrome of inappropriate secretion of antidiuretic hormone syndrome of inappropriate vasopressin secretion disease_ontology DOID:3401 inappropriate ADH syndrome MESH:D007177 DOID:3401 A pituitary gland disease resulting from excessive production of antidiuretic hormone (ADH). url:https://medlineplus.gov/ency/article/000314.htm SIADH neoplasm associated Ectopic Hormone Secretion syndromes disease_ontology DOID:3402 obsolete ectopic hormone secretion syndrome associated with neoplasia true DOID:3402 hypergammaglobulinaemia hypergammaglobulinemia (finding) hypergammaglobulinemia [dup] (finding) hypergammaglobulinemia, NOS disease_ontology DOID:3403 obsolete hypergammaglobulinemia true DOID:3403 BMH benign Monoclonal Gammopathy benign monoclonal gammopathy (disorder) disease_ontology DOID:3404 obsolete benign monoclonal gammopathy true DOID:3404 A lymphatic system disease that is characterized by an excessive number of histiocytes. DOID:3344 MESH:D015614 NCI:C3106 SNOMEDCT_US_2023_03_01:60657004 UMLS_CUI:C0019618 Hand Schuller Christian disease chronic Histiocytosis X disease_ontology DOID:3405 histiocytosis DOID:3405 A lymphatic system disease that is characterized by an excessive number of histiocytes. url:http://en.wikipedia.org/wiki/Histiocytosis url:http://www.nlm.nih.gov/medlineplus/ency/article/000068.htm MESH:D002340 NCI:C84476 SNOMEDCT_US_2023_03_01:371160000 UMLS_CUI:C0007273 disorder of carotid artery disease_ontology DOID:3407 carotid artery disease DOID:3407 A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. DOID:2868 ICD9CM:443.81 MESH:D001157 SNOMEDCT_US_2023_03_01:195624006 SNOMEDCT_US_2023_03_01:2929001 UMLS_CUI:C0003838 UMLS_CUI:C0031115 arterial occlusive disease disease_ontology DOID:341 peripheral vascular disease DOID:341 A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. url:http://en.wikipedia.org/wiki/Peripheral_vascular_disease MESH:D002341 SNOMEDCT_US_2023_03_01:195181000 UMLS_CUI:C0007274 disease_ontology DOID:3410 carotid artery thrombosis DOID:3410 A viral infectious disease that involves necrosis of the liver caused by Canine adenovirus 1 in dogs, wolves, coyotes and bears. The symptoms include fever, leukopenia, apathy, anorexia, conjunctivitis, serous discharge from the eyes and nose, petechiae of the oral mucosa, subcutaneous edema of the head, neck and trunk, hematomas in the mouth, jaundice, and hepatic encephalopathy. disease_ontology DOID:3412 obsolete infectious canine hepatitis true DOID:3412 A viral infectious disease that involves necrosis of the liver caused by Canine adenovirus 1 in dogs, wolves, coyotes and bears. The symptoms include fever, leukopenia, apathy, anorexia, conjunctivitis, serous discharge from the eyes and nose, petechiae of the oral mucosa, subcutaneous edema of the head, neck and trunk, hematomas in the mouth, jaundice, and hepatic encephalopathy. url:http://en.wikipedia.org/wiki/Infectious_canine_hepatitis url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/57200.htm A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. GARD:6968 MESH:D008363 MIM:248500 NCI:C84548 SNOMEDCT_US_2023_03_01:65524005 UMLS_CUI:C0024748 Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase disease_ontology DOID:3413 OMIM mapping confirmed by DO. [SN]. alpha-mannosidosis MESH:D008363 DOID:3413 A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. url:http://en.wikipedia.org/wiki/Alpha-mannosidosis Mannosidosis Mannosidosis (disorder) mannosidase deficiency disease_ontology DOID:3414 obsolete mannosidase deficiency disease true DOID:3414 NCI:C5828 SNOMEDCT_US_2023_03_01:126975006 UMLS_CUI:C1263900 neoplasm of glossopharyngeal nerve tumor of Glossopharyngeal nerve disease_ontology DOID:3417 glossopharyngeal nerve neoplasm DOID:3417 A cranial nerve disease that is located_in the ninth cranial nerve or its nuclei in the medulla. ICD10CM:G52 ICD9CM:352 SNOMEDCT_US_2023_03_01:193098000 UMLS_CUI:C0154730 ninth cranial nerve disease disease_ontology DOID:3418 glossopharyngeal nerve disease DOID:3418 A cranial nerve disease that is located_in the ninth cranial nerve or its nuclei in the medulla. url:https://www.ncbi.nlm.nih.gov/mesh?Db=mesh&term=Glossopharyngeal+Nerve+Diseases MESH:D019574 NCI:C4801 SNOMEDCT_US_2023_03_01:126968005 UMLS_CUI:C0524802 Tumour of optic nerve neoplasm of optic nerve tumor of Second Cranial nerve disease_ontology DOID:3419 optic nerve neoplasm DOID:3419 ICD9CM:442.82 SNOMEDCT_US_2023_03_01:40136003 UMLS_CUI:C0155746 disease_ontology DOID:342 subclavian artery aneurysm DOID:342 tumor of the visual pathway disease_ontology DOID:3420 obsolete neoplasm of visual pathway true DOID:3420 NCI:C5825 SNOMEDCT_US_2023_03_01:126970001 UMLS_CUI:C1263896 neoplasm of trochlear nerve tumor of Trochlear nerve disease_ontology DOID:3421 trochlear nerve neoplasm DOID:3421 An inner ear disease that is located in the vestibular system. ICD10CM:H81.9 MESH:D015837 SNOMEDCT_US_2023_03_01:20425006 UMLS_CUI:C0042594 Vertigo, vestibular disorder disease_ontology DOID:3426 vestibular disease DOID:3426 An inner ear disease that is located in the vestibular system. url:https://www.merckmanuals.com/professional/ear,-nose,-and-throat-disorders/inner-ear-disorders/introduction-to-inner-ear-disorders NCI:C27575 UMLS_CUI:C1334150 disease_ontology DOID:3428 Adding UMLS CUI for synonym. granulomatous myositis DOID:3428 A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle. GARD:3896 ICD10CM:G72.41 ICD9CM:359.71 MESH:D018979 MIM:147421 NCI:C84786 ORDO:611 SNOMEDCT_US_2023_03_01:72315009 UMLS_CUI:C0238190 disease_ontology DOID:3429 OMIM mapping confirmed by DO. [SN]. inclusion body myositis MESH:D018979 DOID:3429 A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle. url:http://en.wikipedia.org/wiki/Inclusion_body_myositis url:https://ghr.nlm.nih.gov/condition/idiopathic-inflammatory-myopathy A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition. NCI:C27199 UMLS_CUI:C0742115 disease_ontology DOID:3431 cerebritis DOID:3431 A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition. url:https://en.wikipedia.org/wiki/Cerebritis A acute laryngitis which is caused by viral infection. NCI:C27305 SNOMEDCT_US_2023_03_01:441551009 UMLS_CUI:C0853195 disease_ontology DOID:3436 viral laryngitis DOID:3436 A acute laryngitis which is caused by viral infection. url:http://www.merck.com/mmpe/sec08/ch092/ch092d.html A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption. MESH:D007827 NCI:C26811 SNOMEDCT_US_2023_03_01:45913009 UMLS_CUI:C0023067 disease_ontology DOID:3437 laryngitis DOID:3437 A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption. url:http://en.wikipedia.org/wiki/Laryngitis A disease that involves any biological process (GO:0008150) specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. disease_ontology DOID:344 obsolete disease of biological process true DOID:344 A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus. NCI:C7073 UMLS_CUI:C0030185 UMLS_CUI:C1368019 Paget cell neoplasm Paget's disease Paget's disease of the breast mammary Paget disease disease_ontology DOID:3443 mammary Paget's disease DOID:3443 A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371672/ NCI:C7728 UMLS_CUI:C0238330 Paget's disease of scrotum scrotum Paget disease disease_ontology DOID:3444 scrotum Paget's disease DOID:3444 NCI:C6389 UMLS_CUI:C1370468 carcinoma of scrotum disease_ontology DOID:3445 scrotal carcinoma DOID:3445 NCI:C5598 UMLS_CUI:C1332274 Paget's disease of anus anal Paget disease disease_ontology Paget's disease of the anus DOID:3446 anal Paget's disease DOID:3446 An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. NCI:C5600 SNOMEDCT_US_2023_03_01:423607006 UMLS_CUI:C1332257 adenocarcinoma of anus disease_ontology adenocarcinoma of the anus DOID:3447 anus adenocarcinoma DOID:3447 An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI:C27817 SNOMEDCT_US_2023_03_01:255104003 UMLS_CUI:C0221286 Paget's disease of penis penis Paget disease disease_ontology DOID:3448 penis Paget's disease DOID:3448 A penile cancer that is located_in the skin or tissues of the penis. NCI:C9061 SNOMEDCT_US_2023_03_01:372106005 UMLS_CUI:C0853105 Penile carcinoma carcinoma of penis disease_ontology DOID:3449 penis carcinoma DOID:3449 A penile cancer that is located_in the skin or tissues of the penis. url:http://en.wikipedia.org/wiki/Carcinoma_of_the_penis A female reproductive system disease that is located_in the uterus. ICD10CM:N85.9 ICD9CM:621.9 MESH:D014591 NCI:C26907 SNOMEDCT_US_2023_03_01:237068005 UMLS_CUI:C0042131 disease_ontology DOID:345 uterine disease DOID:345 A female reproductive system disease that is located_in the uterus. url:http://www.merriam-webster.com/dictionary/uterus A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli. MESH:D010145 NCI:C3302 Paget's disease of skin cutaneous Paget disease extramammary Paget's disease disease_ontology DOID:3450 cutaneous Paget's disease DOID:3450 A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli. url:https://ncit.nci.nih.gov/ncitbrowser/pages/home.jsf;jsessionid=C48DBFA9A55E2FE31390EDF86D581ABE A skin cancer that is located_in tissues of the skin and develops from epithelial cells. NCI:C4914 UMLS_CUI:C0699893 carcinoma of skin disease_ontology DOID:3451 skin carcinoma DOID:3451 A skin cancer that is located_in tissues of the skin and develops from epithelial cells. url:http://www.cancer.gov/cancertopics/types/skin A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain. MESH:D020520 UMLS_CUI:C0751955 disease_ontology DOID:3454 brain infarction DOID:3454 A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain. url:https://meshb.nlm.nih.gov/record/ui?ui=D020520 A cervix disease that is characterized by the presence of enodcervical columnar epithelium on the ectocervix. MESH:D002579 SNOMEDCT_US_2023_03_01:156011009 UMLS_CUI:C0007869 Erosion of cervix disease_ontology DOID:3456 cervix erosion DOID:3456 A cervix disease that is characterized by the presence of enodcervical columnar epithelium on the ectocervix. url:https://en.wikipedia.org/wiki/Cervical_ectropion A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated. MESH:D018275 NCI:C3771 SNOMEDCT_US_2023_03_01:89740008 UMLS_CUI:C0206692 Lobular carcinoma Lobular carcinoma of breast Lobular carcinoma of the breast disease_ontology DOID:3457 invasive lobular carcinoma DOID:3457 A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated. url:http://www.breastcancer.org/symptoms/types/ilc url:https://www.ncbi.nlm.nih.gov/pubmed/25849106 A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast. NCI:C5214 SNOMEDCT_US_2023_03_01:865954003 UMLS_CUI:C0858252 Mammary adenocarcinoma disease_ontology adenocarcinoma of breast DOID:3458 breast adenocarcinoma DOID:3458 A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast. url:http://www.virtualmedicalcentre.com/diseases.asp?did=696 A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. EFO:0000305 MESH:D001943 NCI:C4872 SNOMEDCT_US_2023_03_01:154513000 UMLS_CUI:C0678222 Mammary carcinoma carcinoma of breast disease_ontology DOID:3459 breast carcinoma DOID:3459 A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Breast_cancer disease_ontology DOID:3461 obsolete breast hamartoma true DOID:3461 DOID:3474 hamartoma hamartoma (disorder) hamartoma (morphologic abnormality) hamartomatous polyp hamartomatous polyp (morphologic abnormality) disease_ontology DOID:3462 obsolete hamartoma true DOID:3462 A disease of anatomical entity that is located_in the breast. ICD10CM:N64.9 ICD9CM:610-612.99 MESH:D001941 NCI:C26709 SNOMEDCT_US_2023_03_01:79604008 UMLS_CUI:C0006145 disease_ontology DOID:3463 breast disease DOID:3463 A disease of anatomical entity that is located_in the breast. url:http://www.nlm.nih.gov/medlineplus/breastdiseases.html hamartoma of skin appendage (disorder) skin Appendage hamartoma disease_ontology DOID:3464 obsolete hamartoma of skin appendage true DOID:3464 Congenital nevus of the skin disease_ontology DOID:3465 obsolete congenital nevus of skin true DOID:3465 Cartilagenous hamartoma cartilaginous hamartoma (morphologic abnormality) disease_ontology DOID:3466 obsolete cartilaginous hamartoma true DOID:3466 mesenchymal hamartoma (morphologic abnormality) disease_ontology DOID:3467 obsolete mesenchymal hamartoma true DOID:3467 hamartoma of the CNS disease_ontology DOID:3470 obsolete hamartoma of central nervous system true DOID:3470 hamartoma of lung (disorder) pulmonary hamartoma disease_ontology DOID:3472 obsolete hamartoma of lung true DOID:3472 hamartoma of brain (disorder) disease_ontology DOID:3473 obsolete brain hamartoma true DOID:3473 Lipomatous hamartoma Lipomatous hamartoma (disorder) disease_ontology DOID:3476 obsolete Lipomatous hamartoma true DOID:3476 DOID:6353 MESH:D015811 NCI:C3142 NCI:C4554 SNOMEDCT_US_2023_03_01:188264002 SNOMEDCT_US_2023_03_01:231964001 UMLS_CUI:C0022079 UMLS_CUI:C0346372 malignant neoplasm of the Iris malignant tumor of iris tumor of the Iris disease_ontology DOID:3478 iris cancer DOID:3478 An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes. DOID:12754 NCI:C6105 UMLS_CUI:C3665670 Malignant neoplasm of uveal tract Uveal tumor malignant Uveal tumor disease_ontology DOID:3479 uveal cancer DOID:3479 An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes. url:https://www.umkelloggeye.org/conditions-treatments/uveal-melanoma-ocular-melanoma An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins. ICD10CM:H02.3 ICD9CM:374.34 SNOMEDCT_US_2023_03_01:193944001 UMLS_CUI:C0005742 disease_ontology DOID:348 blepharochalasis DOID:348 An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins. url:https://en.wikipedia.org/wiki/Blepharochalasis An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. GARD:8192 MESH:D014603 NCI:C26908 SNOMEDCT_US_2023_03_01:95678007 UMLS_CUI:C0042161 disease_ontology DOID:3480 uveal disease DOID:3480 An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26908 A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs. ICD10CM:A20.7 ICD9CM:020.2 MESH:D010930 SNOMEDCT_US_2023_03_01:9012003 UMLS_CUI:C0152936 disease_ontology DOID:3481 septicemic plague DOID:3481 A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs. url:http://en.wikipedia.org/wiki/Plague_%28disease%29#Septicemic_plague url:http://www.cdc.gov/ncidod/dvbid/plague/facts.htm A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food. ICD10CM:A20 ICD9CM:020 MESH:D010930 NCI:C85015 SNOMEDCT_US_2023_03_01:58750007 UMLS_CUI:C0032064 disease_ontology DOID:3482 plague DOID:3482 A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food. url:https://www.ncbi.nlm.nih.gov/pubmed/29628173 A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Oxyurida. disease_ontology DOID:3485 obsolete Oxyurida infectious disease true DOID:3485 A Chromadorea infectious disease that involves infection by parasitic nematodes of the order Oxyurida. url:http://en.wikipedia.org/wiki/Oxyurida GARD:13040 MESH:D009335 NCI:C34840 SNOMEDCT_US_2023_03_01:201319007 UMLS_CUI:C0027538 disease_ontology DOID:3486 necrobiosis lipoidica DOID:3486 disease_ontology DOID:3487 obsolete metabolic skin disease true DOID:3487 A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion. DOID:2472 ICD10CM:L03.90 MESH:D002481 NCI:C26715 NCI:C34454 SNOMEDCT_US_2023_03_01:267833003 SNOMEDCT_US_2023_03_01:74276003 UMLS_CUI:C0007642 UMLS_CUI:C0007646 disease_ontology DOID:3488 cellulitis DOID:3488 A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion. url:http://en.wikipedia.org/wiki/Cellulitis GARD:8616 ICD10CM:D47.02 MESH:D034721 NCI:C9235 SNOMEDCT_US_2023_03_01:123310005 UMLS_CUI:C0221013 SMCD - systemic mast cell disease systemic tissue mast cell disease disease_ontology DOID:349 systemic mastocytosis DOID:349 A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. GARD:10955 ICD10CM:Q87.19 MESH:D009634 MIM:PS163950 NCI:C34854 ORDO:648 SNOMEDCT_US_2023_03_01:88327006 UMLS_CUI:C0028326 Turner's phenotype, karyotype normal disease_ontology DOID:3490 OMIM mapping confirmed by DO. [SN]. Noonan syndrome DOID:3490 A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. url:https://ghr.nlm.nih.gov/condition/noonan-syndrome#definition url:https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome url:https://research.nhgri.nih.gov/atlas/condition/noonan-syndrome url:https://www.genome.gov/Genetic-Disorders/Noonan-Syndrome A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome. DOID:5448 GARD:2540 GARD:7831 ICD10CM:Q96 MESH:D014424 NCI:C26900 NCI:C34434 SNOMEDCT_US_2023_03_01:38804009 UMLS_CUI:C0041408 UMLS_CUI:C1527168 Bonnevie-Ullrich syndrome Gonadal dysgenesis - Turner Karyotype 45, X Monosomy X XO syndrome monosomy X syndrome disease_ontology DOID:3491 No OMIM mapping, confirmed by DO. [LS]. Turner syndrome DOID:3491 A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome. url:https://ghr.nlm.nih.gov/condition/turner-syndrome url:https://rarediseases.org/rare-diseases/turner-syndrome/ url:https://research.nhgri.nih.gov/atlas/condition/turner-syndrome url:https://www.genome.gov/Genetic-Disorders/Turner-Syndrome A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. GARD:7051 ICD10CM:M35.1 MESH:D008947 NCI:C84892 SNOMEDCT_US_2023_03_01:33110008 UMLS_CUI:C0026272 Connective tissue disease overlap syndrome mixed collagen vascular disease disease_ontology DOID:3492 mixed connective tissue disease DOID:3492 A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. url:http://www.merckmanuals.com/professional/sec04/ch032/ch032c.html An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance. MESH:D018279 NCI:C3774 SNOMEDCT_US_2023_03_01:189701002 UMLS_CUI:C0206696 Signet ring carcinoma Signet ring cell carcinoma disease_ontology DOID:3493 signet ring cell adenocarcinoma DOID:3493 An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance. url:http://en.wikipedia.org/wiki/Signet_ring_cell_carcinoma NCI:C5776 UMLS_CUI:C0861859 disease_ontology DOID:3494 bile duct signet ring cell carcinoma DOID:3494 An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin. NCI:C7975 UMLS_CUI:C0279659 adenocarcinoma of extrahepatic bile duct disease_ontology adenocarcinoma of the extrahepatic bile duct DOID:3495 extrahepatic bile duct adenocarcinoma DOID:3495 An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI:C5720 UMLS_CUI:C1335317 Signet Ring cell carcinoma of pancreas pancreatic signet ring cell carcinoma disease_ontology DOID:3497 pancreatic signet ring cell adenocarcinoma DOID:3497 A pancreatic adenocarcinoma that derives_from pancreatic duct cells. NCI:C9120 SNOMEDCT_US_2023_03_01:792907004 UMLS_CUI:C1335302 ductal adenocarcinoma of the pancreas disease_ontology DOID:3498 pancreatic ductal adenocarcinoma DOID:3498 A pancreatic adenocarcinoma that derives_from pancreatic duct cells. url:http://cancergenome.nih.gov/cancersselected/PancreaticDuctalAdenocarcinoma url:http://en.wikipedia.org/wiki/Pancreatic_cancer NCI:C5745 UMLS_CUI:C1333758 Signet Ring cell carcinoma of the gallbladder disease_ontology DOID:3499 gallbladder signet ring cell adenocarcinoma DOID:3499 GARD:6987 ICD10CM:D47.09 MESH:D008415 MIM:154800 NCI:C84269 SNOMEDCT_US_2023_03_01:78745000 UMLS_CUI:C0024899 mast cell hyperplasia disease_ontology DOID:350 OMIM mapping confirmed by DO. [LS]. mastocytosis DOID:350 A gallbladder carcinoma that derives_from epithelial cells of glandular origin. NCI:C9166 UMLS_CUI:C0279651 adenocarcinoma of the gallbladder disease_ontology DOID:3500 gallbladder adenocarcinoma DOID:3500 A gallbladder carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI:C6656 UMLS_CUI:C1332249 ampullary signet ring cell carcinoma disease_ontology DOID:3501 ampullary signet ring cell adenocarcinoma DOID:3501 An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin. NCI:C6650 UMLS_CUI:C1332243 ampullary adenocarcinoma disease_ontology adenocarcinoma of ampulla of vater DOID:3502 ampulla of Vater adenocarcinoma DOID:3502 An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins. NCI:C5175 UMLS_CUI:C1335964 Mammary Signet Ring cell carcinoma disease_ontology signet ring cell carcinoma of breast DOID:3503 breast signet ring cell adenocarcinoma DOID:3503 A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751374/ NCI:C5535 UMLS_CUI:C1335520 Signet Ring cell carcinoma of prostate prostate signet ring cell carcinoma disease_ontology DOID:3504 prostate signet ring cell adenocarcinoma DOID:3504 A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly. GARD:9569 ICDO:8832/1 MESH:D018223 MIM:607907 SNOMEDCT_US_2023_03_01:302844005 UMLS_CUI:C0206647 disease_ontology DOID:3507 MESH:C538219 added from NeuroDevNet [WAK]. dermatofibrosarcoma protuberans DOID:3507 A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly. url:http://en.wikipedia.org/wiki/Dermatofibrosarcoma_protuberans url:http://www.cancer.gov/dictionary?CdrID=44276 ICD9CM:593.3 UMLS_CUI:C0156261 disease_ontology DOID:3508 stricture or kinking of ureter DOID:3508 GARD:8211 MESH:D018319 SNOMEDCT_US_2023_03_01:19897006 UMLS_CUI:C0206729 Neurosarcoma disease_ontology DOID:3512 neurofibrosarcoma DOID:3512 NCI:C7809 UMLS_CUI:C0278595 disease_ontology DOID:3516 adult fibrosarcoma DOID:3516 NCI:C9429 UMLS_CUI:C1333156 disease_ontology DOID:3517 conventional fibrosarcoma DOID:3517 disease_ontology DOID:3519 obsolete non-metastatic fibrosarcoma true DOID:3519 NCI:C8088 UMLS_CUI:C0279981 pediatric fibrosarcoma disease_ontology DOID:3520 childhood fibrosarcoma DOID:3520 A sarcoma that affects children and is located_in the soft tissues of the body. pediatric sarcoma of the soft tissue disease_ontology DOID:3521 obsolete childhood soft tissue sarcoma true DOID:3521 A sarcoma that affects children and is located_in the soft tissues of the body. url:http://www.cancer.gov/cancertopics/pdq/treatment/child-soft-tissue-sarcoma/Patient A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome. ICD10CM:G46.3 MESH:D014854 NCI:C84807 SNOMEDCT_US_2023_03_01:78569004 UMLS_CUI:C0043019 Posterior inferior cerebellar artery syndrome Wallenberg syndrome disease_ontology DOID:3522 lateral medullary syndrome DOID:3522 A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome. url:https://en.wikipedia.org/wiki/Lateral_medullary_syndrome A brain infarction that is characterized by stroke of the brain stem that develops from blockage or narrowing in the arteries located_in the brainstem, has_material_basis_in damage to the cranial nerve nuclei and long tracts, has_symptom vertigo, has_symptom imbalance, has_symptom decreased level of arousal. MESH:D020526 SNOMEDCT_US_2023_03_01:95457000 UMLS_CUI:C0521542 Brainstem infarction disease_ontology DOID:3523 brain stem infarction DOID:3523 A brain infarction that is characterized by stroke of the brain stem that develops from blockage or narrowing in the arteries located_in the brainstem, has_material_basis_in damage to the cranial nerve nuclei and long tracts, has_symptom vertigo, has_symptom imbalance, has_symptom decreased level of arousal. url:https://en.wikipedia.org/wiki/Brainstem url:https://en.wikipedia.org/wiki/Brainstem_stroke_syndrome MESH:D020244 UMLS_CUI:C0740392 disease_ontology DOID:3525 middle cerebral artery infarction DOID:3525 A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain. ICD10CM:I63 MESH:D002544 MIM:601367 NCI:C50486 SNOMEDCT_US_2023_03_01:195188006 UMLS_CUI:C0007785 CVA - Cerebral infarction Cerebral infarct disease_ontology DOID:3526 cerebral infarction DOID:3526 A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain. url:https://en.wikipedia.org/wiki/Cerebral_infarction MESH:D002539 UMLS_CUI:C0007774 disease_ontology DOID:3527 cerebral arterial disease DOID:3527 MESH:D020243 UMLS_CUI:C0751843 disease_ontology DOID:3528 anterior cerebral artery infarction DOID:3528 A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe. GARD:6014 ICD10CM:G71.29 MESH:D020512 MIM:117000 NCI:C83010 ORDO:597 SNOMEDCT_US_2023_03_01:43152001 UMLS_CUI:C0751951 central core disease central core myopathy disease_ontology DOID:3529 OMIM mapping confirmed by DO. [SN]. congenital myopathy 1A DOID:3529 A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe. url:https://medlineplus.gov/genetics/condition/central-core-disease/ url:https://pubmed.ncbi.nlm.nih.gov/23553484/ url:https://pubmed.ncbi.nlm.nih.gov/34627702/ MESH:D034081 UMLS_CUI:C1135993 disease_ontology DOID:3530 chronic wasting disease DOID:3530 A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate. Goat plague Ovine rinderpest PPR Pseudorinderpest Stomatitis-Pneumoenteritis Syndrome disease_ontology DOID:3532 obsolete peste des petits ruminants infectious disease true DOID:3532 A viral infectious disease that results_in infection in ruminants, has_material_basis_in Peste-des-petits-ruminants virus, which is transmitted_by contact with oronasal and ocular secretions, urine, and feces. The infection results_in_formation_of lesions on the gums, lips and palate. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/peste_des_petits_ruminants.pdf A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus. disease_ontology DOID:3533 obsolete Morbillivirus infectious disease true DOID:3533 A Paramyxoviridae infectious disease that results_in infection in dogs, seals, cattle and humans, has_material_basis_in Morbillivirus. url:http://en.wikipedia.org/wiki/Morbillivirus A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3. GARD:8214 MESH:D020192 MIM:254780 NCI:C84804 SNOMEDCT_US_2023_03_01:230425004 UMLS_CUI:C0751783 Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA disease_ontology DOID:3534 OMIM mapping confirmed by DO. [SN]. Lafora disease DOID:3534 A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19267391 url:https://www.ncbi.nlm.nih.gov/pubmed/19469843 A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline. GARD:3876 MESH:D020194 NCI:C179710 SNOMEDCT_US_2023_03_01:192847001 UMLS_CUI:C0751785 Unverricht - Lundborg disease Unverricht's disease Unverricht-Lundborg disease disease_ontology DOID:3535 OMIM mapping confirmed by DO. [LS]. Unverricht-Lundborg syndrome DOID:3535 A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline. url:https://www.ncbi.nlm.nih.gov/pubmed/19469843 A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain. MESH:D016545 NCI:C3473 SNOMEDCT_US_2023_03_01:254942002 UMLS_CUI:C0085138 tumor of choroid plexus tumor of the Choroid Plexus disease_ontology choroid plexus neoplasm DOID:3540 choroid plexus cancer DOID:3540 A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain. url:http://en.wikipedia.org/wiki/Choroid_plexus A cerebrum cancer that is located_in the cerebral ventricles. DOID:10856 GARD:6025 ICD10CM:C71.5 ICD9CM:191.5 MESH:D002551 NCI:C2937 SNOMEDCT_US_2023_03_01:126958000 SNOMEDCT_US_2023_03_01:363471001 UMLS_CUI:C0007798 UMLS_CUI:C0346906 Intraventricular tumor of brain cerebral ventricle neoplasm disease_ontology DOID:3541 cerebral ventricle cancer DOID:3541 A cerebrum cancer that is located_in the cerebral ventricles. url:http://en.wikipedia.org/wiki/Ventricular_system NCI:C8568 UMLS_CUI:C0796430 neoplasm of the adult Choroid Plexus disease_ontology adult choroid plexus tumor DOID:3542 adult choroid plexus cancer DOID:3542 ICDO:9390/1 NCI:C53686 SNOMEDCT_US_2023_03_01:1156470000 UMLS_CUI:C1266176 disease_ontology DOID:3544 atypical choroid plexus papilloma DOID:3544 NCI:C42080 UMLS_CUI:C0280623 disease_ontology childhood choroid plexus neoplasm DOID:3545 childhood choroid plexus cancer DOID:3545 disease_ontology DOID:3546 obsolete somatosensory disorder true DOID:3546 A sarcoma that has_material_basis_in mast cells. ICD10CM:C96.22 ICD9CM:202.6 MESH:D012515 NCI:C9348 SNOMEDCT_US_2023_03_01:118615008 UMLS_CUI:C0036221 disease_ontology DOID:355 mast-cell sarcoma DOID:355 A sarcoma that has_material_basis_in mast cells. url:https://www.ncbi.nlm.nih.gov/pubmed/24745684 A duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery. GARD:7712 MESH:D013478 NCI:C85175 ORDO:622099 SNOMEDCT_US_2023_03_01:24988007 UMLS_CUI:C0038828 Wilkie's syndrome disease_ontology DOID:3557 superior mesenteric artery syndrome DOID:3557 A duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery. url:https://rarediseases.org/rare-diseases/superior-mesenteric-artery-syndrome/ url:https://www.ncbi.nlm.nih.gov/books/NBK482209/ ICD10CM:K31.5 MESH:D004380 NCI:C79548 SNOMEDCT_US_2023_03_01:95532008 UMLS_CUI:C0013292 disease_ontology DOID:3558 duodenal obstruction DOID:3558 An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis. GARD:7488 ICDO:8480/6 MESH:D011553 NCI:C3345 SNOMEDCT_US_2023_03_01:307601000 UMLS_CUI:C0033822 mucinous Ascites disease_ontology DOID:3559 pseudomyxoma peritonei DOID:3559 An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis. url:http://en.wikipedia.org/wiki/Pseudomyxoma_peritonei url:http://www.cancer.gov/dictionary?CdrID=44256 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/843/viewAbstract url:https://www.ncbi.nlm.nih.gov/pubmed/14567019 Mast cell malignancy of intrathoracic lymph nodes (disorder) malignant mast cell tumors involving intrathoracic lymph nodes disease_ontology DOID:356 obsolete intrathoracic lymph node mast cell malignancy true DOID:356 A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges. DOID:1137 DOID:3554 DOID:3567 DOID:4750 GARD:7015 ICD10CM:D32.9 ICDO:9530/0 MESH:D008579 NCI:C3230 NCI:C6971 SNOMEDCT_US_2023_03_01:269643009 UMLS_CUI:C0025286 UMLS_CUI:C1334698 meningeal neoplasm meningothelial cell tumor neoplasm of the meninges primary Meningeal tumor disease_ontology DOID:3565 meningioma DOID:3565 A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges. url:http://en.wikipedia.org/wiki/Meningioma A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens. Egtved Disease disease_ontology DOID:3568 obsolete viral hemorrhagic septicemia true DOID:3568 A viral infectious disease that results_in infection in fish, has_material_basis_in Viral hemorrhagic septicemia virus, which is transmitted_by contact with the contaminated water, or transmitted_by direct contact. The infection has_symptom hemorrhages in the internal organs, skin, and muscle, has_symptom bulging eyes, and has_symptom bloated abdomens. url:http://en.wikipedia.org/wiki/Viral_hemorrhagic_septicemia Mast cell malignancy of lymph nodes of axilla and upper limb (disorder) malignant mast cell tumors involving lymph nodes of axilla and upper limb disease_ontology DOID:357 obsolete upper limb lymph node mast cell malignancy true DOID:357 A hepatobiliary system cancer that is located_in the liver. DOID:12300 DOID:269 DOID:7330 DOID:915 DOID:919 ICD10CM:C22.0 ICD10CM:C22.9 ICD9CM:155.0 ICD9CM:155.2 MESH:D008113 NCI:C34803 NCI:C7692 SNOMEDCT_US_2023_03_01:126851005 SNOMEDCT_US_2023_03_01:187771009 SNOMEDCT_US_2023_03_01:93870000 UMLS_CUI:C0023903 UMLS_CUI:C0024620 UMLS_CUI:C0345904 UMLS_CUI:C0854795 Ca liver - primary Resectable malignant neoplasm of Liver hepatic cancer hepatic neoplasm malignant hepato-biliary neoplasm malignant neoplasm of liver malignant neoplasm of liver, not specified as primary or secondary malignant neoplasm of liver, primary malignant tumor of liver neoplasm of liver non-resectable primary hepatic malignant neoplasm primary liver cancer primary malignant neoplasm of liver resectable malignant neoplasm of the liver disease_ontology DOID:3571 liver cancer DOID:3571 A hepatobiliary system cancer that is located_in the liver. url:http://en.wikipedia.org/wiki/Liver MESH:D012851 UMLS_CUI:C0037198 disease_ontology DOID:3572 intracranial sinus thrombosis DOID:3572 MESH:D020227 SNOMEDCT_US_2023_03_01:21258007 UMLS_CUI:C0270639 Thrombosis of lateral venous sinus Thrombosis transverse sinus disease_ontology DOID:3574 lateral sinus thrombosis DOID:3574 MESH:D020226 SNOMEDCT_US_2023_03_01:89980009 UMLS_CUI:C0238454 Thrombosis of cavernous venous sinus disease_ontology DOID:3575 cavernous sinus thrombosis DOID:3575 MESH:D020225 SNOMEDCT_US_2023_03_01:70607008 UMLS_CUI:C0338575 Thrombosis of superior longitudinal sinus Thrombosis of superior sagittal sinus disease_ontology DOID:3576 sagittal sinus thrombosis DOID:3576 A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells. DOID:0050617 ICDO:8640/1 MESH:D012707 NCI:C39976 SNOMEDCT_US_2023_03_01:128857001 UMLS_CUI:C0036769 tubular androblastoma disease_ontology DOID:3577 Sertoli cell tumor DOID:3577 A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells. url:https://en.wikipedia.org/wiki/Sertoli_cell_tumour An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements. NCI:C39985 SNOMEDCT_US_2023_03_01:716594002 UMLS_CUI:C1518716 disease_ontology DOID:3578 ovarian gonadoblastoma DOID:3578 An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements. url:https://www.ncbi.nlm.nih.gov/pubmed/21879333 NCI:C39911 UMLS_CUI:C1515283 disease_ontology DOID:3579 testicular gonadoblastoma DOID:3579 testicular mixed germ cell-Sex Cord tumor disease_ontology DOID:3580 obsolete testicular mixed germ cell-sex cord-stromal neoplasm true DOID:3580 disease_ontology DOID:3583 obsolete enterotoxemia true DOID:3583 clostridial infection disease_ontology DOID:3584 obsolete commensal Clostridium infectious disease true DOID:3584 disease_ontology DOID:3586 obsolete Puerperal pyrexia of unknown origin true DOID:3586 A pancreatic carcinoma located_in the pancreatic duct. DOID:10023 ICD10CM:C25.3 ICD9CM:157.3 MESH:D021441 SNOMEDCT_US_2023_03_01:93939009 UMLS_CUI:C0153461 UMLS_CUI:C0887833 malignant neoplasm of duct of Wirsung pancreatic duct cancer disease_ontology DOID:3587 pancreatic ductal carcinoma DOID:3587 A pancreatic carcinoma located_in the pancreatic duct. url:http://en.wikipedia.org/wiki/Pancreatic_cancer url:http://en.wikipedia.org/wiki/Pancreatic_duct disease_ontology DOID:3589 obsolete Poor Prognosis metastatic Gestational Trophoblastic tumor true DOID:3589 DOID:14071 DOID:3598 ICD10CM:O01 ICD9CM:630 MESH:D006828 MESH:D031901 MIM:231090 NCI:C3110 NCI:C4699 NCI:C7887 SNOMEDCT_US_2023_03_01:156085008 SNOMEDCT_US_2023_03_01:417475006 UMLS_CUI:C0020217 UMLS_CUI:C0278796 UMLS_CUI:C1135868 gestational trophoblastic neoplasia hydatidiform mole molar pregnancy disease_ontology DOID:3590 OMIM mapping confirmed by DO. [SN]. gestational trophoblastic neoplasm DOID:3590 disease_ontology DOID:3591 obsolete Nonmetastatic Gestational Trophoblastic tumor true DOID:3591 NCI:C6900 SNOMEDCT_US_2023_03_01:128767001 UMLS_CUI:C1266159 disease_ontology DOID:3593 epithelioid trophoblastic tumor DOID:3593 A placenta cancer that has_material_basis_in trophoblastic cells. GARD:6059 ICD10CM:C58 ICDO:9100/3 MESH:D002822 NCI:C2948 SNOMEDCT_US_2023_03_01:189444004 UMLS_CUI:C0008497 Chorioepithelioma disease_ontology DOID:3594 choriocarcinoma DOID:3594 A placenta cancer that has_material_basis_in trophoblastic cells. url:https://en.wikipedia.org/wiki/Choriocarcinoma A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells. ICDO:9104/1 MESH:D018245 NCI:C3757 SNOMEDCT_US_2023_03_01:75320001 UMLS_CUI:C0206666 Placental-Site Gestational Trophoblastic neoplasm placental site trophoblastic tumour disease_ontology DOID:3596 placental site trophoblastic tumor DOID:3596 A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells. url:https://www.ncbi.nlm.nih.gov/pubmed/14614893 disease_ontology DOID:3597 obsolete Good Prognosis metastatic Gestational Trophoblastic tumor true DOID:3597 A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems. MESH:D020258 NCI:C27961 SNOMEDCT_US_2023_03_01:19466003 UMLS_CUI:C0235032 neurotoxicity neurotoxicity syndrome disease_ontology DOID:3602 toxic encephalopathy DOID:3602 A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521923/ url:https://en.wikipedia.org/wiki/Toxic_encephalopathy A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells. ICDO:8470/3 MESH:D018282 NCI:C3776 SNOMEDCT_US_2023_03_01:79143006 UMLS_CUI:C0206699 Pseudomucinous cystadenocarcinoma disease_ontology DOID:3603 mucinous cystadenocarcinoma DOID:3603 A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells. url:https://www.thehealthboard.com/what-is-a-mucinous-cystadenocarcinoma.htm An ovarian cystadenocarcinoma that is characterized by the presence of mucin. NCI:C4026 SNOMEDCT_US_2023_03_01:254851009 UMLS_CUI:C0279665 mucinous cystadenocarcinoma of ovary disease_ontology DOID:3604 ovarian mucinous cystadenocarcinoma DOID:3604 An ovarian cystadenocarcinoma that is characterized by the presence of mucin. url:https://en.wikipedia.org/wiki/Ovarian_mucinous_tumor An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces. NCI:C5228 SNOMEDCT_US_2023_03_01:314191009 UMLS_CUI:C1096638 cystadenocarcinoma of ovary cystadenocarcinoma of the Ovary disease_ontology DOID:3605 ovarian cystadenocarcinoma DOID:3605 An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces. url:https://pubmed.ncbi.nlm.nih.gov/2196390/ An ovary adenocarcinoma that is characterized by the presence of mucin. NCI:C5243 UMLS_CUI:C1335167 mucinous carcinoma of Ovary disease_ontology DOID:3606 ovarian mucinous adenocarcinoma DOID:3606 An ovary adenocarcinoma that is characterized by the presence of mucin. url:https://www.ncbi.nlm.nih.gov/pubmed/24487473 NCI:C5511 UMLS_CUI:C1096639 Colloidal cystadenocarcinoma of the appendix disease_ontology DOID:3607 appendix mucinous cystadenocarcinoma DOID:3607 An appendix carcinoma that derives_from epithelial cells of glandular origin. NCI:C7718 SNOMEDCT_US_2023_03_01:413445002 UMLS_CUI:C0238003 Appendiceal adenocarcinoma disease_ontology DOID:3608 appendix adenocarcinoma DOID:3608 An appendix carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin. NCI:C40354 UMLS_CUI:C1511318 disease_ontology DOID:3609 breast mucinous cystadenocarcinoma DOID:3609 A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643878/ A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix. ICD10CM:N80.0 NCI:C27623 SNOMEDCT_US_2023_03_01:61640006 UMLS_CUI:C0269107 Endometriosis of cervix cervical Endometriosis disease_ontology DOID:361 cervix endometriosis DOID:361 A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix. url:https://www.ncbi.nlm.nih.gov/pubmed/21890095 A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout. NCI:C9131 SNOMEDCT_US_2023_03_01:444712000 UMLS_CUI:C1334807 Invasive mucinous breast carcinoma disease_ontology mucinous carcinoma of breast DOID:3610 breast mucinous carcinoma DOID:3610 A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout. url:https://www.ncbi.nlm.nih.gov/pubmed/24305754 MESH:D015882 SNOMEDCT_US_2023_03_01:231986000 UMLS_CUI:C0035319 acute retinal necrosis disease_ontology DOID:3611 acute retinal necrosis syndrome DOID:3611 ICD10CM:H30.9 MESH:D012173 NCI:C115993 SNOMEDCT_US_2023_03_01:35426003 UMLS_CUI:C0035333 disease_ontology DOID:3612 retinitis DOID:3612 A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13. GARD:5984 MESH:D017825 MIM:271900 NCI:C84611 SNOMEDCT_US_2023_03_01:80544005 UMLS_CUI:C0206307 ACY2 DEFICIENCY AMINOACYLASE 2 DEFICIENCY ASP DEFICIENCY ASPA DEFICIENCY ASPARTOACYLASE DEFICIENCY CANAVAN-VAN BOGAERT-BERTRAND DISEASE Spongy degeneration of central nervous system disease_ontology DOID:3613 OMIM mapping confirmed by DO. [SN]. Canavan disease DOID:3613 A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13. url:https://pubmed.ncbi.nlm.nih.gov/2512436/ url:https://pubmed.ncbi.nlm.nih.gov/3354621/ A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia). GARD:10771 ICD10CM:E23.0 MESH:D017436 NCI:C75479 ORDO:478 SNOMEDCT_US_2023_03_01:190559001 UMLS_CUI:C0162809 Hypogonadism with anosmia Kallman syndrome Kallman's syndrome familial hypogonadism with anosmia disease_ontology DOID:3614 Kallmann syndrome DOID:3614 A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia). url:https://www.ncbi.nlm.nih.gov/pubmed/26194704 An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue. NCI:C7449 SNOMEDCT_US_2023_03_01:24045002 UMLS_CUI:C1305256 Angiolipoma, infiltrating disease_ontology DOID:3615 infiltrating angiolipoma DOID:3615 An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue. url:https://www.spandidos-publications.com/10.3892/ol.2014.2737 A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma. ICDO:8861/0 MESH:D018206 NCI:C3733 SNOMEDCT_US_2023_03_01:404057003 UMLS_CUI:C0206632 disease_ontology DOID:3616 angiolipoma MESH:D018206 DOID:3616 A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma. url:http://en.wikipedia.org/wiki/Angiolipoma NCI:C5424 UMLS_CUI:C1333416 Angiolipoma of Extradural Spinal canal disease_ontology DOID:3617 epidural spinal canal angiolipoma DOID:3617 MESH:D015174 NCI:C3019 SNOMEDCT_US_2023_03_01:1153337000 UMLS_CUI:C0014536 Extradural tumor disease_ontology DOID:3618 epidural spinal canal neoplasm DOID:3618 A nervous system cancer that is located_in the central nervous system. DOID:0060093 DOID:1318 EFO:0000326 ICD10CM:C72.9 MESH:D016543 NCI:C4627 NCI:C9293 SNOMEDCT_US_2023_03_01:126951006 SNOMEDCT_US_2023_03_01:93744007 UMLS_CUI:C0085136 UMLS_CUI:C0348374 CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system disease_ontology DOID:3620 central nervous system cancer DOID:3620 A nervous system cancer that is located_in the central nervous system. url:http://en.wikipedia.org/wiki/Central_nervous_system disease_ontology DOID:3621 obsolete central nervous system neuroepithelial neoplasm true DOID:3621 An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. DOID:11138 DOID:7682 DOID:7692 DOID:7703 ICD10CM:I71.1 ICD10CM:I71.3 ICD10CM:I71.5 ICD10CM:I71.8 ICD10CM:I71.9 ICD9CM:441.1 ICD9CM:441.3 ICD9CM:441.5 ICD9CM:441.6 MESH:D001014 MESH:D001019 NCI:C26697 NCI:C27046 NCI:C27198 NCI:C27299 SNOMEDCT_US_2023_03_01:14336007 SNOMEDCT_US_2023_03_01:155419006 SNOMEDCT_US_2023_03_01:195265003 SNOMEDCT_US_2023_03_01:34365005 SNOMEDCT_US_2023_03_01:73067008 UMLS_CUI:C0003486 UMLS_CUI:C0265010 UMLS_CUI:C0265012 UMLS_CUI:C0741160 UMLS_CUI:C1305122 ruptured aortic aneurysm disease_ontology DOID:3627 aortic aneurysm MESH:D001014 MESH:D001019 DOID:3627 An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. url:http://en.wikipedia.org/wiki/Aortic_aneurysm A female reproductive organ cancer that is located_in the uterus. DOID:4363 ICD10CM:C55 ICD9CM:179 MESH:D014594 NCI:C3435 NCI:C3552 SNOMEDCT_US_2023_03_01:126908007 SNOMEDCT_US_2023_03_01:371973000 UMLS_CUI:C0042138 UMLS_CUI:C0153567 CA - cancer of uterus Tumour of uterus malignant neoplasm of uterus malignant uterine tumor neoplasm of uterus uterine tumor uterus neoplasm disease_ontology DOID:363 uterine cancer DOID:363 A female reproductive organ cancer that is located_in the uterus. url:http://www.cancer.gov/dictionary?CdrID=445094 A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. MESH:D044905 MIM:248510 NCI:C84596 SNOMEDCT_US_2023_03_01:238047006 UMLS_CUI:C4048196 Beta-D-mannosidosis beta-mannosidase deficiency lysosomal beta-mannosidase deficiency disease_ontology DOID:3633 OMIM mapping confirmed by DO. [SN]. beta-mannosidosis DOID:3633 A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. url:http://en.wikipedia.org/wiki/Beta-mannosidosis A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). GARD:11902 MESH:D020294 MIM:PS601462 NCI:C84647 ORDO:590 SNOMEDCT_US_2023_03_01:230672006 UMLS_CUI:C0751882 disease_ontology DOID:3635 Xref MGI. congenital myasthenic syndrome DOID:3635 A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). url:http://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590 disease_ontology DOID:3636 obsolete commensal Desulfovibrionaceae infectious disease true DOID:3636 NCI:C9234 UMLS_CUI:C1134515 childhood Spinal Cord neoplasm disease_ontology DOID:3637 childhood spinal cord tumor DOID:3637 NCI:C5428 UMLS_CUI:C1334259 Intramedullary Spinal teratoma disease_ontology DOID:3639 spinal cord intramedullary teratoma DOID:3639 Nontraumatic rupture of bladder (disorder) [Ambiguous] Rupture of bladder, nontraumatic spontaneous rupture of bladder (disorder) disease_ontology DOID:364 obsolete spontaneous rupture of bladder true DOID:364 A teratoma that is located_in the central nervous system. NCI:C5441 UMLS_CUI:C1332895 CNS teratoma disease_ontology DOID:3640 central nervous system teratoma DOID:3640 A teratoma that is located_in the central nervous system. url:https://www.ncbi.nlm.nih.gov/pubmed/21150046 NCI:C5443 UMLS_CUI:C1333153 tumor of Conus Medullaris disease_ontology DOID:3641 conus medullaris neoplasm DOID:3641 GARD:6331 MESH:D004652 NCI:C84686 SNOMEDCT_US_2023_03_01:393569006 UMLS_CUI:C0014008 disease_ontology DOID:3642 empty sella syndrome MESH:D004652 DOID:3642 NCI:C4944 UMLS_CUI:C0748616 tumor of Sella Turcica disease_ontology DOID:3643 sella turcica neoplasm DOID:3643 MESH:D007029 NCI:C3129 SNOMEDCT_US_2023_03_01:254968009 UMLS_CUI:C0020659 neoplasm of the Hypothalamus tumor of hypothalamus disease_ontology DOID:3644 hypothalamic neoplasm DOID:3644 NCI:C27066 SNOMEDCT_US_2023_03_01:59572000 UMLS_CUI:C0271558 Pituitary necrosis disease_ontology DOID:3646 necrosis of pituitary DOID:3646 Inborn error of pyruvate metabolism (disorder) disease_ontology DOID:3648 obsolete inborn errors pyruvate metabolism true DOID:3648 A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. GARD:4620 GARD:7513 ICD10CM:E74.4 MESH:D015325 MIM:245348 MIM:245349 MIM:312170 MIM:608782 MIM:614111 NCI:C103968 ORDO:79243 SNOMEDCT_US_2023_03_01:46683007 UMLS_CUI:C0034345 deficiency of pyruvic dehydrogenase pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency disease_ontology DOID:3649 Xref MGI. OMIM mapping confirmed by DO. [SN]. pyruvate decarboxylase deficiency DOID:3649 A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. url:http://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency url:http://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract A urinary system disease that is located_in the bladder. ICD10CM:N32.9 ICD9CM:596.9 MESH:D001745 NCI:C2900 SNOMEDCT_US_2023_03_01:42643001 UMLS_CUI:C0005686 Urinary Bladder Disease disease_ontology DOID:365 bladder disease DOID:365 A urinary system disease that is located_in the bladder. url:http://www.nlm.nih.gov/medlineplus/bladderdiseases.html A metabolic acidosis characterized by buildup of lactate. ICD10CM:E87.20 MESH:D000140 NCI:C98969 SNOMEDCT_US_2023_03_01:91273001 UMLS_CUI:C0001125 disease_ontology DOID:3650 lactic acidosis DOID:3650 A metabolic acidosis characterized by buildup of lactate. url:http://en.wikipedia.org/wiki/Lactic_acidosis A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis. ICD10CM:E74.4 MESH:D015324 MIM:266150 NCI:C85040 SNOMEDCT_US_2023_03_01:87694001 UMLS_CUI:C0034341 deficiency of pyruvic carboxylase disease_ontology DOID:3651 OMIM mapping confirmed by DO. [SN]. pyruvate carboxylase deficiency disease DOID:3651 A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis. url:http://omim.org/entry/266150 url:https://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. GARD:6877 ICD10CM:G31.82 MESH:D007888 MIM:256000 NCI:C84814 ORDO:506 SNOMEDCT_US_2023_03_01:29570005 UMLS_CUI:C0023264 Infantile necrotizing encephalomyelopathy Leigh syndrome juvenile subacute necrotizing encephalomyelopathy disease_ontology subacute necrotizing encephalomyelopathy DOID:3652 Xref MGI. OMIM mapping confirmed by DO. [SN]. Leigh disease DOID:3652 A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. url:http://en.wikipedia.org/wiki/Leigh%27s_disease url:http://ghr.nlm.nih.gov/condition/leigh-syndrome url:https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ url:https://rarediseases.org/rare-diseases/leigh-syndrome/ laboratory infection disease_ontology DOID:3653 obsolete laboratory infectious disease true DOID:3653 A lysosomal storage disease characterized by increased sialic acid in the urine. MESH:D029461 MIM:269921 MIM:604369 NCI:C85067 SNOMEDCT_US_2023_03_01:238051008 UMLS_CUI:C0342853 disease_ontology DOID:3659 OMIM mapping confirmed by DO. [LS]. OMIM mapping submitted by NeuroDevNet. [LS]. sialuria DOID:3659 A lysosomal storage disease characterized by increased sialic acid in the urine. url:http://en.wikipedia.org/wiki/Sialuria url:http://www.ncbi.nlm.nih.gov/books/NBK1164/ url:http://www.omim.org/entry/269921 neoplasm of olfactory nerve tumor of Olfactory nerve disease_ontology DOID:366 this NCI term represents either benign or malignant[LS]. obsolete olfactory nerve neoplasm true DOID:366 A food allergy that develops_from exposure to and particularly consumption of wheat, and has_symptom that are both gastrointestinal and nongastrointestinal in nature, such as diarrhea, mouth and throat irritation, headache, hives, skin rashes, and anaphylaxis. MESH:D021182 SNOMEDCT_US_2023_03_01:420174000 UMLS_CUI:C0949570 allergy to wheat wheat allergic reaction disease_ontology DOID:3660 wheat allergy DOID:3660 A food allergy that develops_from exposure to and particularly consumption of wheat, and has_symptom that are both gastrointestinal and nongastrointestinal in nature, such as diarrhea, mouth and throat irritation, headache, hives, skin rashes, and anaphylaxis. url:https://www.mayoclinic.org/diseases-conditions/wheat-allergy/symptoms-causes/syc-20378897 GARD:7842 ICD10CM:D47.01 MESH:D034701 NCI:C7137 SNOMEDCT_US_2023_03_01:703827008 UMLS_CUI:C1136033 CM disease_ontology DOID:3663 cutaneous mastocytosis DOID:3663 CM A hematologic cancer that has_material_basis_in mast cells. ICD10CM:D47.09 NCI:C9295 SNOMEDCT_US_2023_03_01:127581004 UMLS_CUI:C0334664 Mast cell Proliferative disease mast cell tumor mastocytoma disease_ontology DOID:3664 mast cell neoplasm DOID:3664 A hematologic cancer that has_material_basis_in mast cells. url:http://en.wikipedia.org/wiki/Mastocytoma url:http://www.cancer.gov/dictionary?CdrID=410729 GARD:12686 ICD10CM:D47.01 MESH:D034701 NCI:C3218 SNOMEDCT_US_2023_03_01:703826004 UMLS_CUI:C0024901 disease_ontology DOID:3665 diffuse cutaneous mastocytosis DOID:3665 A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter. ICD10CM:D47.01 MESH:D054705 NCI:C7138 SNOMEDCT_US_2023_03_01:239147000 UMLS_CUI:C0343115 Solitary Mastocytoma of skin Solitary mastocytoma cutaneous solitary mastocytoma disease_ontology DOID:3666 solitary mastocytoma of the skin DOID:3666 A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter. url:https://www.sciencedirect.com/science/article/pii/B9781416030317000127 A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus. disease_ontology DOID:3667 obsolete Cardiovirus infectious disease true DOID:3667 A Picornaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Cardiovirus. url:http://vir.sgmjournals.org/cgi/content/full/91/6/1418 A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses. disease_ontology DOID:3668 obsolete Picornaviridae infectious disease true DOID:3668 A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Picornaviridae viruses. url:http://en.wikipedia.org/wiki/Picornaviridae ICD10CM:I73.9 MESH:D007383 SNOMEDCT_US_2023_03_01:195312007 UMLS_CUI:C0021775 Charcot's syndrome disease_ontology DOID:3669 intermittent claudication DOID:3669 A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell. ICD10CM:G52.0 ICD9CM:352.0 MESH:D020431 NCI:C27210 SNOMEDCT_US_2023_03_01:68982002 UMLS_CUI:C0751937 disorder of 1st nerve disorder of olfactory [1st] nerve disorder of olfactory nerve disease_ontology DOID:367 olfactory nerve disease DOID:367 A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell. url:https://en.wikipedia.org/wiki/Olfactory_nerve MESH:D010497 SNOMEDCT_US_2023_03_01:22240003 UMLS_CUI:C0031055 disease_ontology DOID:3671 pericoronitis DOID:3671 A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system. GARD:7572 MESH:D018335 NCI:C3808 SNOMEDCT_US_2023_03_01:83118000 UMLS_CUI:C0206743 Rhabdoid sarcoma malignant rhabdoid tumour disease_ontology rhabdoid tumor DOID:3672 rhabdoid cancer MESH:D018335 DOID:3672 A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system. url:https://rarediseases.info.nih.gov/diseases/7572/rhabdoid-tumor A embryonal cancer that is located in the kidney. NCI:C8715 UMLS_CUI:C0854917 renal Rhabdoid tumor rhabdoid tumor of the kidney disease_ontology kidney rhabdoid tumor DOID:3674 kidney rhabdoid cancer DOID:3674 A embryonal cancer that is located in the kidney. url:https://pubmed.ncbi.nlm.nih.gov/32853941/ NCI:C6563 UMLS_CUI:C1333003 pediatric renal tumor disease_ontology DOID:3675 childhood kidney cancer DOID:3675 A lung disease that is characterized by an inflammatory lesion that is composed of plasma cells and fibrous tissue. MESH:D016726 SNOMEDCT_US_2023_03_01:707373004 UMLS_CUI:C0085269 Lymphocytic pseudotumor of lung Sclerosing hemangiocytoma of lung granuloma, plasma cell, pulmonary disease_ontology DOID:3677 pulmonary plasma cell granuloma DOID:3677 A lung disease that is characterized by an inflammatory lesion that is composed of plasma cells and fibrous tissue. url:https://pubmed.ncbi.nlm.nih.gov/2336294/ A supratentorial cancer that is located_in the cerebrum. DOID:912 ICD9CM:191.8 NCI:C4874 SNOMEDCT_US_2023_03_01:126953009 SNOMEDCT_US_2023_03_01:188300006 UMLS_CUI:C0153642 UMLS_CUI:C1263885 cerebral cancer neoplasm of cerebrum tumor of Cerebrum disease_ontology DOID:368 cerebrum cancer DOID:368 A supratentorial cancer that is located_in the cerebrum. url:http://en.wikipedia.org/wiki/Cerebrum DOID:8722 DOID:8862 DOID:8894 DOID:8952 malignant Oral cavity neoplasm malignant Oral neoplasm malignant Pharyngeal tumor malignant neoplasm of mouth malignant neoplasm of mouth NOS (disorder) malignant neoplasm of mouth, unspecified malignant neoplasm of oral cavity NOS malignant neoplasm of other specified mouth parts (disorder) malignant neoplasm of other specified parts of mouth malignant neoplasm of palate NOS (disorder) malignant neoplasm of palate unspecified (disorder) malignant neoplasm of palate, unspecified malignant neoplasm of pharynx malignant neoplasm of pharynx unspecified (disorder) malignant neoplasm of pharynx, NOS malignant neoplasm of pharynx, unspecified malignant neoplasm of roof of mouth malignant tumor of oral cavity (disorder) malignant tumor of palate (disorder) malignant tumor of pharynx (disorder) malignant tumor of the Palate malignant tumour of mouth disease_ontology DOID:3680 obsolete malignant neoplasm of lip, oral cavity and pharynx true DOID:3680 MESH:D008175 NCI:C3200 SNOMEDCT_US_2023_03_01:126713003 UMLS_CUI:C0024121 tumor of the lung disease_ontology DOID:3683 lung benign neoplasm DOID:3683 Helicobacter Pylori Infection disease_ontology DOID:3686 obsolete Helicobacter pylori infectious disease true DOID:3686 A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins. ICD10CM:E88.41 MESH:D017241 MIM:540000 NCI:C84885 SNOMEDCT_US_2023_03_01:39925003 UMLS_CUI:C0162671 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES disease_ontology DOID:3687 OMIM mapping confirmed by DO. [SN]. MELAS syndrome DOID:3687 A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins. url:https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes#genes NCI:C27744 UMLS_CUI:C1335437 disease_ontology DOID:3688 plexopathy DOID:3688 A brachial plexus neuropathy that affects the chest, shoulder, arm and hand. ICD10CM:G54.5 MESH:D020968 NCI:C84600 SNOMEDCT_US_2023_03_01:26609002 UMLS_CUI:C0221759 Brachial neuritis Parsonage-Aldren-Turner syndrome disease_ontology DOID:3689 brachial plexus neuritis DOID:3689 A brachial plexus neuropathy that affects the chest, shoulder, arm and hand. url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/brachial-neuritis GARD:2197 ICDO:9522/3 MESH:D018304 NCI:C3789 SNOMEDCT_US_2023_03_01:76060004 UMLS_CUI:C0206717 Asthesioneuroblastoma Esthesioneuroblastoma Esthesioneuroepithelioma Olfactory Esthesioneuroblastoma paranasal sinus Olfactory neuroblastoma disease_ontology DOID:369 olfactory neuroblastoma DOID:369 A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves. ICD10CM:G54.0 MESH:D020516 NCI:C27194 SNOMEDCT_US_2023_03_01:3548001 UMLS_CUI:C0700251 Brachial plexus disorder brachial plexopathy disease_ontology DOID:3690 brachial plexus neuropathy DOID:3690 A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves. url:https://pubmed.ncbi.nlm.nih.gov/30688233/ url:https://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061 An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid. NCI:C5606 UMLS_CUI:C1332272 mucinous adenocarcinoma of anus disease_ontology DOID:3691 anal colloid adenocarcinoma DOID:3691 An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid. url:http://en.wikipedia.org/wiki/Adenocarcinoma An anal canal cancer that derives_from epithelial cells of glandular origin. NCI:C7471 SNOMEDCT_US_2023_03_01:764845008 UMLS_CUI:C1332259 adenocarcinoma of the anal canal disease_ontology adenocarcinoma of anal canal DOID:3692 anal canal adenocarcinoma DOID:3692 An anal canal cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI:C27416 UMLS_CUI:C1332248 disease_ontology DOID:3693 ampulla of Vater mucinous adenocarcinoma DOID:3693 disease_ontology DOID:3694 obsolete adnexal mucinous adenocarcinoma true DOID:3694 adenocarcinoma of the skin Appendage disease_ontology adenocarcinoma of the adnexa DOID:3695 obsolete adnexa adenocarcinoma true DOID:3695 A acute transudative otitis media which involves bloody effusion. ICD9CM:381.03 SNOMEDCT_US_2023_03_01:77478005 UMLS_CUI:C0395865 disease_ontology DOID:3696 acute sanguinous otitis media DOID:3696 A acute transudative otitis media which involves bloody effusion. url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course. ICD9CM:381.0 SNOMEDCT_US_2023_03_01:35183001 UMLS_CUI:C0271432 acute non-suppurative otitis media acute nonsuppurative otitis media acute otitis media with effusion acute secretory otitis media disease_ontology DOID:3697 acute transudative otitis media DOID:3697 A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course. url:http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false url:http://www.ncbi.nlm.nih.gov/sites/entrez/1195971 NCI:C5846 UMLS_CUI:C0861856 mucinous carcinoma of the bile duct disease_ontology DOID:3698 bile duct mucinous adenocarcinoma DOID:3698 A uterine ligament adenocarcinoma that produces mucin. NCI:C40137 UMLS_CUI:C5557429 disease_ontology DOID:3699 uterine ligament mucinous adenocarcinoma DOID:3699 A uterine ligament adenocarcinoma that produces mucin. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C40137 An integumentary system disease that is located_in skin. DOID:1576 DOID:1698 DOID:187 DOID:6486 DOID:8948 ICD9CM:702 MESH:D012871 MESH:D012873 NCI:C156032 NCI:C3371 SNOMEDCT_US_2023_03_01:201095006 SNOMEDCT_US_2023_03_01:5613003 SNOMEDCT_US_2023_03_01:95320005 UMLS_CUI:C0029574 UMLS_CUI:C0037274 UMLS_CUI:C0037277 Genodermatosis skin and subcutaneous tissue disease disease_ontology DOID:37 skin disease DOID:37 An integumentary system disease that is located_in skin. url:http://en.wikipedia.org/wiki/Skin_disease ICD10CM:C72.2 NCI:C4768 UMLS_CUI:C0496838 malignant olfactory nerve tumor malignant tumor of Olfactory nerve primary malignant neoplasm of olfactory nerve disease_ontology DOID:370 malignant olfactory nerve neoplasm DOID:370 A uterine ligament cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. NCI:C40135 UMLS_CUI:C5557428 disease_ontology DOID:3700 uterine ligament adenocarcinoma DOID:3700 A uterine ligament cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/26699941 A cervical adenocarcinoma that derives_from mucin producing epithelial cells. NCI:C36095 UMLS_CUI:C1332919 disease_ontology DOID:3701 cervical mucinous adenocarcinoma DOID:3701 A cervical adenocarcinoma that derives_from mucin producing epithelial cells. url:https://www.ncbi.nlm.nih.gov/pubmed/24199926 A cervix carcinoma that derives_from epithelial cells of glandular origin. NCI:C4029 SNOMEDCT_US_2023_03_01:254887002 UMLS_CUI:C0279672 adenocarcinoma cervix uteri adenocarcinoma of cervix adenocarcinoma of the uterine Cervix disease_ontology DOID:3702 cervical adenocarcinoma DOID:3702 A cervix carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure. NCI:C5537 UMLS_CUI:C1335513 acinar Colloid prostate adenocarcinoma disease_ontology DOID:3703 prostate colloid adenocarcinoma DOID:3703 A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure. url:https://www.ncbi.nlm.nih.gov/pubmed/11145249 A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. NCI:C40103 UMLS_CUI:C1517119 disease_ontology DOID:3704 fallopian tube mucinous adenocarcinoma DOID:3704 A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987967/ A fallopian tube benign neoplasm that produces mucin. NCI:C40109 UMLS_CUI:C1517120 disease_ontology DOID:3705 fallopian tube mucinous tumor DOID:3705 A fallopian tube benign neoplasm that produces mucin. url:https://pubmed.ncbi.nlm.nih.gov/26894303/ A fallopian tube carcinoma that derives_from epithelial cells of glandular origin. NCI:C6265 UMLS_CUI:C1333590 adenocarcinoma of the fallopian tube disease_ontology DOID:3706 fallopian tube adenocarcinoma DOID:3706 A fallopian tube carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. NCI:C40144 UMLS_CUI:C1519859 uterine Corpus mucinous adenocarcinoma disease_ontology DOID:3707 endometrial mucinous adenocarcinoma DOID:3707 An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. url:https://www.ncbi.nlm.nih.gov/pubmed/22569105 A rectal adenocarcinoma that produces mucin. NCI:C7973 UMLS_CUI:C0279652 Colloidal adenocarcinoma of rectum disease_ontology DOID:3709 rectum mucinous adenocarcinoma DOID:3709 A rectal adenocarcinoma that produces mucin. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110493/ NCI:C5437 UMLS_CUI:C1333499 disease_ontology DOID:371 extracranial neuroblastoma DOID:371 NCI:C39837 UMLS_CUI:C1511193 disease_ontology DOID:3710 bladder colloid adenocarcinoma DOID:3710 A bladder carcinoma that derives_from epithelial cells of glandular origin. NCI:C4032 SNOMEDCT_US_2023_03_01:255110003 UMLS_CUI:C0279682 adenocarcinoma of bladder adenocarcinoma of the urinary bladder bladder adenocarcinoma, Not Otherwise Specified disease_ontology DOID:3711 bladder adenocarcinoma DOID:3711 A bladder carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma An ovarian carcinoma that derives_from epithelial cells of glandular origin. DOID:7816 NCI:C7700 UMLS_CUI:C0948216 Ovarian adenocarcinoma ovarian adenoacanthoma disease_ontology adenocarcinoma of the ovary DOID:3713 ovary adenocarcinoma DOID:3713 An ovarian carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A non-suppurative otitis media which involves obstruction of the collecting lymphatic tubules of the middle ear and eustachian tube as they drain to the retropharyngeal lymphatics. Retraction of the tympanic membrane is also observed. disease_ontology DOID:3715 obsolete non-suppurative otitis media and eustachian tube disorder true DOID:3715 A non-suppurative otitis media which involves obstruction of the collecting lymphatic tubules of the middle ear and eustachian tube as they drain to the retropharyngeal lymphatics. Retraction of the tympanic membrane is also observed. url:http://www.ncbi.nlm.nih.gov/sites/entrez/1195971 NCI:C5248 UMLS_CUI:C1334809 mucinous adenocarcinoma of the stomach disease_ontology DOID:3716 mucinous stomach adenocarcinoma DOID:3716 A stomach carcinoma that derives_from epithelial cells of glandular origin. NCI:C4004 SNOMEDCT_US_2023_03_01:408647009 UMLS_CUI:C0278701 adenocarcinoma of stomach stomach adenocarcinoma disease_ontology DOID:3717 gastric adenocarcinoma DOID:3717 A stomach carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus. disease_ontology DOID:3718 obsolete Arterivirus infectious disease true DOID:3718 A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus. url:http://en.wikipedia.org/wiki/Arterivirus ICD10CM:C90.2 NCI:C4002 SNOMEDCT_US_2023_03_01:128921005 UMLS_CUI:C0278619 extraosseous plasmacytoma plasmacytoma, extramedullary disease_ontology DOID:3720 extramedullary plasmacytoma DOID:3720 ICD10CM:C90.3 ICDO:9731/3 MESH:D010954 NCI:C9349 SNOMEDCT_US_2023_03_01:302852008 UMLS_CUI:C0032131 Myeloma - solitary Myeloma, solitary Solitary myeloma Solitary plasmacytoma disease_ontology DOID:3721 plasmacytoma DOID:3721 NCI:C7812 SNOMEDCT_US_2023_03_01:42215000 UMLS_CUI:C0272256 Isolated osseous plasmacytoma Solitary plasmacytoma of bone disease_ontology DOID:3722 solitary osseous plasmacytoma DOID:3722 NCI:C6711 UMLS_CUI:C1332936 Solitary plasmacytoma of the Chest Wall disease_ontology DOID:3723 solitary plasmacytoma of chest wall DOID:3723 disorder of puerperium (disorder) disorder of the puerperium puerperal disorder disease_ontology DOID:3726 obsolete puerperal disease true DOID:3726 A acute sanguinous otitis media caused by an allergen. ICD9CM:381.06 SNOMEDCT_US_2023_03_01:194243008 UMLS_CUI:C0155420 disease_ontology DOID:3728 acute allergic sanguinous otitis media DOID:3728 A acute sanguinous otitis media caused by an allergen. url:https://www.ncbi.nlm.nih.gov/pubmed/15301306 A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person. disease due to Paramyxovirus (disorder) disease_ontology DOID:3729 obsolete Respirovirus infectious disease true DOID:3729 A Paramyxoviridae infectious disease that results_in infection, has_material_basis_in Respirovirus, which is transmitted_by contact with the respiratory secretions of an infected person. url:http://expasy.org/viralzone/all_by_species/87.html infant nutrition disorder disease_ontology DOID:373 obsolete infant nutrition disorder true DOID:373 A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia. Pneumonic pasteurellosis disease_ontology DOID:3730 obsolete pneumonic pasteurellosis true DOID:3730 A Pasteurella infectious disease that involves infection by the bacterium Mannheimia haemolytica and less frequently by Pasteurella multocida and Histophilus somni. After stress or viral infection, the replication rate of M. haemolytica in the upper respiratory tract increases rapidly, followed by inhalation and colonization of the lungs due to suppression of the host's defense mechanism. The bacterium produces exotoxin called leukotxin which interacts with the host's defense mechanism resulting in tissue damage with charactersistic necrosis, thrombosis, and exudation and the development of pneumonia. url:http://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121216.htm disease_ontology DOID:3731 obsolete primary Pasteurellaceae infectious disease true DOID:3731 A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals. disease_ontology DOID:3732 obsolete bovine respiratory disease complex true DOID:3732 A pneumonia which has a multifactorial etiology and develops as a result of complex interactions between environmental factors, host factors, and pathogens leading to pulmonary lesions caused by various micro organisms ( essentially viruses and bacteria). Environmental factors (eg, weaning, transport, commingling, crowding, and inadequate ventilation) serve as stressors that adversely affect the immune and nonimmune defense mechanisms of the host. In addition, certain environmental factors (eg, crowding and inadequate ventilation) can enhance the transmission of infectious agents among animals. url:http://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121205.htm url:http://www.jstor.org/stable/pdfplus/1349519.pdf A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks. MESH:D013801 SNOMEDCT_US_2023_03_01:68771000 UMLS_CUI:C0039753 Infection by Theileria theileriosis disease_ontology DOID:3733 theileriasis DOID:3733 A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks. url:http://en.wikipedia.org/wiki/East_Coast_fever A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium. ICDO:8051/3 MESH:D018289 NCI:C3781 SNOMEDCT_US_2023_03_01:89906000 UMLS_CUI:C0206706 Warty carcinoma verrucous squamous carcinoma verrucous squamous cell carcinoma disease_ontology DOID:3737 verrucous carcinoma DOID:3737 A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium. url:http://en.wikipedia.org/wiki/Verrucous_carcinoma A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomavirus (types 16, or 18), which cause malignant tumors in squamous epithelium in genital and periungual areas. HPV-Related squamous cell carcinoma disease_ontology DOID:3739 obsolete human papillomavirus related squamous cell carcinoma true DOID:3739 A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomavirus (types 16, or 18), which cause malignant tumors in squamous epithelium in genital and periungual areas. url:http://emedicine.medscape.com/article/219110-overview url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods. MESH:D009748 NCI:C26836 SNOMEDCT_US_2023_03_01:191077005 UMLS_CUI:C3714509 Nutritional disorder disease_ontology DOID:374 nutrition disease DOID:374 An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods. url:http://www.who.int/topics/nutrition_disorders/en/ A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions. NCI:C6383 UMLS_CUI:C1336983 verrucous carcinoma of Vulva disease_ontology DOID:3740 vulva verrucous carcinoma DOID:3740 A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429114/ NCI:C39832 UMLS_CUI:C1511208 disease_ontology DOID:3741 bladder verrucous squamous cell carcinoma DOID:3741 A carcinoma of bladder that is manifested in squamous cells of the bladder. NCI:C4031 SNOMEDCT_US_2023_03_01:255111004 UMLS_CUI:C0279681 Epidermoid carcinoma of the urinary bladder squamous cell carcinoma of bladder disease_ontology DOID:3742 bladder squamous cell carcinoma DOID:3742 A carcinoma of bladder that is manifested in squamous cells of the bladder. url:http://www.cancer.gov/cancertopics/types/bladder A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. It shows no more than minimal nuclear atypia and does not exhibit infiltrative growth. NCI:C40190 UMLS_CUI:C1516435 disease_ontology DOID:3743 cervical verrucous carcinoma DOID:3743 A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. It shows no more than minimal nuclear atypia and does not exhibit infiltrative growth. url:https://www.ncbi.nlm.nih.gov/pubmed/18214065 A cervix carcinoma that has_material_basis_in squamous cells of the cervix. NCI:C4028 SNOMEDCT_US_2023_03_01:254886006 UMLS_CUI:C0279671 squamous cell carcinoma of cervix squamous cell carcinoma of the Cervix Uteri disease_ontology DOID:3744 cervical squamous cell carcinoma DOID:3744 A cervix carcinoma that has_material_basis_in squamous cells of the cervix. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma url:http://www.cancer.gov/dictionary?CdrID=752829 NCI:C27420 UMLS_CUI:C1333470 oesophagus verrucous carcinoma verrucous carcinoma of esophagus verrucous carcinoma of oesophagus disease_ontology verrucous carcinoma of the esophagus DOID:3747 esophagus verrucous carcinoma DOID:3747 An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus. MESH:D000077277 NCI:C4024 SNOMEDCT_US_2023_03_01:276804009 UMLS_CUI:C0279626 SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma disease_ontology DOID:3748 OMIM mapping confirmed by DO. [SN]. esophagus squamous cell carcinoma DOID:3748 An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus. url:http://www.cancer.gov/cancertopics/types/esophageal NCI:C39874 UMLS_CUI:C1519827 disease_ontology DOID:3749 urethral verrucous carcinoma DOID:3749 A cancer of urethra that shows squamous cell differentiation. NCI:C6165 UMLS_CUI:C1336890 urethral Epidermoid carcinoma disease_ontology DOID:3750 urethra squamous cell carcinoma DOID:3750 A cancer of urethra that shows squamous cell differentiation. url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma NCI:C6811 SNOMEDCT_US_2023_03_01:254655003 UMLS_CUI:C0349657 disease_ontology DOID:3751 plantar verrucous skin carcinoma DOID:3751 NCI:C8188 UMLS_CUI:C0280328 verrucous carcinoma of the Larynx disease_ontology DOID:3752 larynx verrucous carcinoma DOID:3752 A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. GARD:6643 ICD10CM:E70.331 MESH:D022861 MIM:PS203300 NCI:C37261 ORDO:231531 ORDO:231537 ORDO:280663 ORDO:79430 SNOMEDCT_US_2023_03_01:60255003 UMLS_CUI:C0079504 disease_ontology DOID:3753 Xref MGI. OMIM mapping confirmed by DO. [SN]. Hermansky-Pudlak syndrome DOID:3753 A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. url:http://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome url:http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract A thrombophilia that is characterized by the tendency to form clots in the veins. ICD10CM:D68.59 MESH:D020152 MIM:613118 NCI:C98815 SNOMEDCT_US_2023_03_01:36351005 UMLS_CUI:C0272375 AT III deficiency hereditary thrombophilia due to congenital antithrombin deficiency disease_ontology DOID:3755 Xref MGI. antithrombin III deficiency DOID:3755 A thrombophilia that is characterized by the tendency to form clots in the veins. url:http://en.wikipedia.org/wiki/Antithrombin_III_deficiency url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/99/viewAbstract A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14. GARD:4521 ICD10CM:D68.59 MESH:D020151 NCI:C99025 ORDO:745 SNOMEDCT_US_2023_03_01:76407009 UMLS_CUI:C0398625 disease_ontology DOID:3756 protein C deficiency DOID:3756 A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14. url:https://pubmed.ncbi.nlm.nih.gov/10942114/ disease_ontology DOID:3758 obsolete Fusobacterium infectious disease true DOID:3758 A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. GARD:48 MESH:D030401 MIM:PS220110 NCI:C98910 SNOMEDCT_US_2023_03_01:237991006 UMLS_CUI:C0268237 MITOCHONDRIAL COMPLEX IV DEFICIENCY disease_ontology DOID:3762 OMIM mapping confirmed by DO. [SN]. cytochrome-c oxidase deficiency disease DOID:3762 A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. url:https://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders url:https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/26846578 MESH:D012734 NCI:C45909 SNOMEDCT_US_2023_03_01:52572004 UMLS_CUI:C0019269 disease_ontology DOID:3763 hermaphroditism DOID:3763 A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). GARD:5576 MESH:D030321 MIM:194080 NCI:C84668 SNOMEDCT_US_2023_03_01:236385009 UMLS_CUI:C0950121 disease_ontology DOID:3764 OMIM mapping confirmed by DO. [SN]. Denys-Drash syndrome DOID:3764 A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049926/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=220&lng=EN DOID:11226 ICD10CM:Q56 ICD10CM:Q56.3 ICD9CM:752.7 MESH:D012734 NCI:C124575 SNOMEDCT_US_2023_03_01:204895009 SNOMEDCT_US_2023_03_01:268328009 UMLS_CUI:C0021193 UMLS_CUI:C0033804 Indeterminate sex and pseudohermaphroditism disease_ontology DOID:3765 pseudohermaphroditism DOID:3765 A vaginal discharge that is characterized by a whitish or yellow color. ICD10CM:N89.8 MESH:D007973 NCI:C34775 SNOMEDCT_US_2023_03_01:156017008 UMLS_CUI:C0023533 Leukorrhea of vagina discharge - leukorrhea disease_ontology DOID:3766 leukorrhea DOID:3766 A vaginal discharge that is characterized by a whitish or yellow color. url:https://www.ncbi.nlm.nih.gov/pubmed/27773511 A vaginal disease that is characterized by the presence of discharge. MESH:D019522 SNOMEDCT_US_2023_03_01:70856007 UMLS_CUI:C0227791 disease_ontology DOID:3767 vaginal discharge DOID:3767 A vaginal disease that is characterized by the presence of discharge. url:https://www.ncbi.nlm.nih.gov/pubmed/23889917 An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes. MESH:D011658 NCI:C26869 SNOMEDCT_US_2023_03_01:155613001 UMLS_CUI:C0034069 Fibrosis of lung disease_ontology DOID:3770 pulmonary fibrosis DOID:3770 An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes. url:https://www.lung.org/lung-health-diseases/lung-disease-lookup/pulmonary-fibrosis url:https://www.sciencedirect.com/science/article/pii/S0954611106004331 MESH:D008579 NCI:C5273 UMLS_CUI:C1334271 disease_ontology DOID:3772 intraventricular meningioma DOID:3772 disease_ontology DOID:3773 obsolete third ventricle chordoid glioma true DOID:3773 A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates. DOID:3773 ICDO:9444/1 NCI:C5592 ORDO:251674 SNOMEDCT_US_2023_03_01:128789002 UMLS_CUI:C1322252 Chordoid glioma of 3rd Ventricle Chordoid glioma of third ventricle third ventricle chordoid glioma disease_ontology DOID:3774 chordoid glioma DOID:3774 A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates. url:https://pubmed.ncbi.nlm.nih.gov/28315998/ url:https://www.frontiersin.org/articles/10.3389/fonc.2020.00502/full GARD:6546 ICD10CM:L92.0 MESH:D016460 NCI:C3470 SNOMEDCT_US_2023_03_01:200953005 UMLS_CUI:C0085074 Granulome annulare disease_ontology DOID:3777 granuloma annulare DOID:3777 An ovarian disease that is characterized by the absence of ovulation. MESH:D000858 NCI:C34388 SNOMEDCT_US_2023_03_01:34571000 UMLS_CUI:C0003128 disease_ontology DOID:3781 anovulation DOID:3781 An ovarian disease that is characterized by the absence of ovulation. url:https://en.wikipedia.org/wiki/Anovulation A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22. GARD:6123 MESH:D038921 MIM:303600 NCI:C84643 SNOMEDCT_US_2023_03_01:15182000 UMLS_CUI:C0265252 disease_ontology DOID:3783 OMIM mapping confirmed by DO. [SN]. Coffin-Lowry syndrome DOID:3783 A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22. url:https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome#inheritance An auditory system disease that is located_in the external ear. DOID:13122 DOID:835 ICD10CM:H61.9 ICD9CM:380 NCI:C26972 SNOMEDCT_US_2023_03_01:49130001 UMLS_CUI:C0155388 Preauricular cyst Preauricular sinus and fistula Preauricular sinus or fistula disease_ontology DOID:379 external ear disease DOID:379 An auditory system disease that is located_in the external ear. url:https://app1.unmc.edu/medicine/heywood/otology/unit3-external-ear-disease-diagnosis.cfm A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath. DOID:11023 DOID:13630 DOID:14304 ICD10CM:J86 MESH:D016724 NCI:C45692 SNOMEDCT_US_2023_03_01:196069007 UMLS_CUI:C0014013 Empyema of pleura Empyema of pleura without fistula Empyema with no fistula Empyema with pleural fistula Empyema without mention of fistula Empyema, chest Pleural empyema with fistula Purulent pleurisy Thorax abscess abscess of pleural cavity abscess of thorax empyema empyema with fistula lung empyema pleural empyema with no fistula purulent pleuritis pyothorax disease_ontology DOID:3798 Updating outdated UMLS CUI. pleural empyema DOID:3798 A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath. url:http://en.wikipedia.org/wiki/Pleural_empyema url:http://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=Pleural%20empyema%20&alt=sh A viral infectious disease that results_in ulceration located_in intestinal epithelium of cats, which has_material_basis_in Feline panleukopenia virus, transmitted_by contact with an infected cat's bodily fluids, feces, or fleas. The infection has_symptom bloody diarrhea, has_symptom dehydration, has_symptom anemia, and has_symptom vomiting. Feline panleukemia disease_ontology DOID:3799 obsolete feline panleukopenia true DOID:3799 A viral infectious disease that results_in ulceration located_in intestinal epithelium of cats, which has_material_basis_in Feline panleukopenia virus, transmitted_by contact with an infected cat's bodily fluids, feces, or fleas. The infection has_symptom bloody diarrhea, has_symptom dehydration, has_symptom anemia, and has_symptom vomiting. url:http://en.wikipedia.org/wiki/Feline_panleukopenia A viral infectious disease that results_in infection in birds, has_material_basis_in Avian leukosis virus, which causes wide range of tumors. disease_ontology Tumor Virus Infections DOID:3800 obsolete avian leukosis true DOID:3800 A viral infectious disease that results_in infection in birds, has_material_basis_in Avian leukosis virus, which causes wide range of tumors. url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/203603.htm A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). MESH:D003414 MIM:218800 ORDO:205 SNOMEDCT_US_2023_03_01:8933000 UMLS_CUI:C0010324 Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I disease_ontology DOID:3803 OMIM mapping confirmed by DO. [SN]. Crigler-Najjar syndrome MESH:D003414 DOID:3803 A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). url:https://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome DOID:8668 GARD:10983 ICD10CM:L56.5 ICD9CM:692.75 MESH:D017499 MIM:175800 NCI:C85019 SNOMEDCT_US_2023_03_01:201086003 SNOMEDCT_US_2023_03_01:238630009 UMLS_CUI:C0162839 UMLS_CUI:C0265970 disseminated superficial actinic porokeratosis disease_ontology DOID:3805 Xref MGI. porokeratosis DOID:3805 NCI:C5310 UMLS_CUI:C1333417 disease_ontology DOID:3809 epidural spinal canal meningioma DOID:3809 A bone disease that is located_in the joint. DOID:13871 DOID:13960 DOID:1843 DOID:1903 DOID:226 DOID:2317 DOID:2318 DOID:546 DOID:9489 ICD10CM:M00-M02 ICD10CM:M12.9 ICD9CM:711 ICD9CM:719.90 MESH:D007592 NCI:C35760 NCI:C78402 SNOMEDCT_US_2023_03_01:48548006 SNOMEDCT_US_2023_03_01:8316001 UMLS_CUI:C0022408 UMLS_CUI:C0157749 Ankylosis of joint of ankle and/or foot Ankylosis of joint of forearm Ankylosis of joint of hand Ankylosis of joint of lower leg Ankylosis of joint of upper arm Ankylosis of multiple joints Infectious arthropathy Joint ankylosis of the ankle and foot Joint ankylosis of the ankle and/or foot Joint ankylosis of the forearm Joint ankylosis of the hand Joint ankylosis of the lower leg Joint ankylosis of the pelvic region and thigh Joint ankylosis of the shoulder region Joint ankylosis of the upper arm ankylosis of ankle and foot joint ankylosis of forearm joint ankylosis of hand joint ankylosis of joint of multiple sites ankylosis of joint of pelvic region and thigh ankylosis of joint of shoulder region ankylosis of lower leg joint ankylosis of upper arm joint disease_ontology DOID:381 arthropathy DOID:381 A bone disease that is located_in the joint. url:http://en.wikipedia.org/wiki/Arthropathy ls:IEDB Chondromatous neoplasm (morphologic abnormality) Chondromatous neoplasm NOS (morphologic abnormality) Chondromatous tumor cartilage neoplasm disease_ontology DOID:3810 obsolete chondrogenic neoplasm true DOID:3810 Chondroma of mediastinum disease_ontology DOID:3812 obsolete mediastinum chondroma true DOID:3812 NCI:C7001 UMLS_CUI:C1333019 Chondroma of the CNS disease_ontology DOID:3813 central nervous system chondroma DOID:3813 A connective tissue benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification. NCI:C9482 extraskeletal chondroma disease_ontology DOID:3814 soft tissue chondroma DOID:3814 A connective tissue benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification. url:https://radiopaedia.org/articles/soft-tissue-chondroma NCI:C27335 SNOMEDCT_US_2023_03_01:827050005 UMLS_CUI:C5231192 disease_ontology DOID:3816 glossopharyngeal nerve paralysis DOID:3816 A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve. MESH:D003389 NCI:C26941 SNOMEDCT_US_2023_03_01:73013002 UMLS_CUI:C0151311 Cranial nerve Paralysis disease_ontology DOID:3817 cranial nerve palsy DOID:3817 A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve. url:https://aapos.org/glossary/cranial-nerve-palsy An allergic contact dermatitis that is characterized by a delayed-type hypersensitivity cutaneous reaction in response to a photoantigen applied to the skin in individuals previously sensitized to the same substance, and has_symptom erythematous papules, vesicles, or eczema. MESH:D017454 SNOMEDCT_US_2023_03_01:111209006 UMLS_CUI:C0162824 Photoallergic contact dermatitis Photoallergic eczema disease_ontology DOID:3818 photoallergic dermatitis DOID:3818 An allergic contact dermatitis that is characterized by a delayed-type hypersensitivity cutaneous reaction in response to a photoantigen applied to the skin in individuals previously sensitized to the same substance, and has_symptom erythematous papules, vesicles, or eczema. url:https://en.wikipedia.org/wiki/Photodermatitis url:https://www.ncbi.nlm.nih.gov/pubmed/19834430 An allergic contact dermatitis that has_allergic_trigger members of the toxicodendron family, including urushiol producing poison ivy, poison oak, and poison sumac, has_symptom pruritic erythematous rash with papules, vesicles, and plaques, and has_material_basis_in a type IV hypersensitivity reaction. MESH:D011040 SNOMEDCT_US_2023_03_01:410049000 UMLS_CUI:C0032342 Contact dermatitis due to Genus Toxicodendron Rhus dermatitis disease_ontology DOID:3819 toxicodendron dermatitis DOID:3819 An allergic contact dermatitis that has_allergic_trigger members of the toxicodendron family, including urushiol producing poison ivy, poison oak, and poison sumac, has_symptom pruritic erythematous rash with papules, vesicles, and plaques, and has_material_basis_in a type IV hypersensitivity reaction. url:https://www.ncbi.nlm.nih.gov/pubmed/16805148 chlamydiaceae infection disease_ontology DOID:3820 obsolete primary Chlamydiaceae infectious disease true DOID:3820 MESH:D020762 UMLS_CUI:C0752132 disease_ontology DOID:3821 posterior cerebral artery infarction DOID:3821 GARD:7636 MESH:D012790 SNOMEDCT_US_2023_03_01:24453002 UMLS_CUI:C0037018 Shwartzman reaction disease_ontology DOID:3825 Shwartzman phenomenon MESH:D012790 DOID:3825 A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. GARD:1481 ICD10CM:K44 MESH:D006548 MIM:142340 MIM:222400 MIM:610187 NCI:C34687 ORDO:2140 SNOMEDCT_US_2023_03_01:155748004 UMLS_CUI:C0019284 Diaphragmatic Hernia disease_ontology DOID:3827 Xref MGI. OMIM mapping confirmed by DO. [SN]. congenital diaphragmatic hernia ICD10CM:Q79.0 DOID:3827 A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. url:http://en.wikipedia.org/wiki/Congenital_diaphragmatic_hernia url:http://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia ICDO:8270/0 MESH:D000238 NCI:C2857 SNOMEDCT_US_2023_03_01:37039006 UMLS_CUI:C0001432 Chromophobe adenoma of the Pituitary gland disease_ontology DOID:3828 chromophobe adenoma DOID:3828 A pituitary gland benign neoplasm that derives_from glandular epithelial cells. ICDO:8272/0 MESH:D010911 MIM:PS102200 NCI:C3329 SNOMEDCT_US_2023_03_01:154621002 UMLS_CUI:C0032000 adenoma of the Pituitary gland disease_ontology DOID:3829 pituitary adenoma DOID:3829 A pituitary gland benign neoplasm that derives_from glandular epithelial cells. url:https://www.ncbi.nlm.nih.gov/pubmed/24010395 disease_ontology DOID:3836 obsolete posttransplantation lymphoproliferative disease true DOID:3836 disease_ontology DOID:3837 obsolete benign lymphoproliferative disease true DOID:3837 Lymphoproliferative disorder of skin disease_ontology DOID:3838 obsolete skin lymphoproliferative disease true DOID:3838 DOID:10392 GARD:7897 ICD10CM:I45.6 ICD9CM:426.7 MESH:D014927 MIM:194200 NCI:C35132 SNOMEDCT_US_2023_03_01:195057009 SNOMEDCT_US_2023_03_01:74390002 UMLS_CUI:C0043202 UMLS_CUI:C0392470 Anomalous A-V excitation Wolff-Parkinson-White pattern anomalous atrioventricular excitation disease_ontology DOID:384 OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN]. Wolff-Parkinson-White syndrome DOID:384 GARD:10486 ICDO:9350/1 MESH:D003397 NCI:C2964 SNOMEDCT_US_2023_03_01:189179009 UMLS_CUI:C0010276 neoplasm of Rathke's Pouch disease_ontology DOID:3840 craniopharyngioma DOID:3840 MESH:D019292 NCI:C4676 UMLS_CUI:C0376527 tumors of Skull Base disease_ontology DOID:3842 skull base cancer DOID:3842 DOID:6097 NCI:C5125 NCI:C5126 UMLS_CUI:C1333286 UMLS_CUI:C1334576 malignant Diencephalic tumor malignant diencephalic neoplasm tumor of Diencephalon disease_ontology DOID:3843 diencephalic neoplasm DOID:3843 pediatric Rathke's Pouch tumor disease_ontology DOID:3844 obsolete pediatric craniopharyngioma true DOID:3844 disease_ontology DOID:3845 obsolete childhood intracranial neoplasm true DOID:3845 ICDO:9351/1 MESH:D003397 NCI:C4726 SNOMEDCT_US_2023_03_01:134216001 UMLS_CUI:C0431129 Adamantinous Rathke's Pouch tumor craniopharyngioma, adamantinomatous disease_ontology DOID:3846 adamantinous craniopharyngioma DOID:3846 ICDO:9352/1 MESH:D003397 NCI:C4725 SNOMEDCT_US_2023_03_01:134215002 UMLS_CUI:C0431128 Papillary Rathke's Pouch tumor craniopharyngioma, papillary disease_ontology DOID:3847 papillary craniopharyngioma DOID:3847 adult Rathke's Pouch tumor disease_ontology DOID:3848 obsolete adult craniopharyngioma true DOID:3848 adult intracranial tumor disease_ontology DOID:3849 obsolete adult intracranial neoplasm true DOID:3849 NCI:C7076 SNOMEDCT_US_2023_03_01:189867006 UMLS_CUI:C0476144 Hemangiopericytic neoplasm disease_ontology DOID:3850 hemangiopericytic tumor DOID:3850 An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13. DOID:4133 DOID:4134 DOID:6252 DOID:6253 GARD:7378 ICD10CM:Q85.89 MESH:D010580 MIM:175200 NCI:C3324 NCI:C4733 NCI:C7755 ORDO:2869 SNOMEDCT_US_2023_03_01:157029009 SNOMEDCT_US_2023_03_01:277161008 SNOMEDCT_US_2023_03_01:53633000 UMLS_CUI:C0031269 UMLS_CUI:C0265323 UMLS_CUI:C0456487 Colonic hamartomatous polyp Peutz Jeghers colon polyp Peutz Jeghers polyp Peutz-Jeghers polyp of small Intestine gastric Peutz-Jeghers polyp peutz-jeghers small bowel hamartoma disease_ontology DOID:3852 OMIM mapping confirmed by DO. [SN]. Peutz-Jeghers syndrome DOID:3852 An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13. url:https://pubmed.ncbi.nlm.nih.gov/10499464/ url:https://pubmed.ncbi.nlm.nih.gov/10874301/ NCI:C39908 SNOMEDCT_US_2023_03_01:236740006 UMLS_CUI:C0341767 Seminal Vesicle neoplasm seminal vesicle tumour tumor of seminal vesicle tumour of seminal vesicle disease_ontology DOID:3855 seminal vesicle tumor DOID:3855 A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum. DOID:10284 ICD10CM:C63.9 ICD9CM:187.9 MESH:D005834 NCI:C3054 NCI:C8561 SNOMEDCT_US_2023_03_01:126895004 SNOMEDCT_US_2023_03_01:363515000 UMLS_CUI:C0017417 UMLS_CUI:C0153606 male genital cancer male reproductive system neoplasm malignant neoplasm of male genital organ malignant neoplasm of male genital organ or tract malignant neoplasm of male genital organs malignant tumor of male Reproductive system malignant tumor of male genital organ neoplasm of male genital organ tumor of male Reproductive system disease_ontology male genital neoplasm DOID:3856 male reproductive organ cancer DOID:3856 A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum. url:http://en.wikipedia.org/wiki/Template:Male_genital_neoplasia url:http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm A medulloblastoma that is characterized by cells that are larger than would be normally expected. ICDO:9474/3 NCI:C6904 ORDO:251855 SNOMEDCT_US_2023_03_01:128790006 UMLS_CUI:C1266180 Anaplastic medulloblastoma disease_ontology DOID:3857 large cell medulloblastoma DOID:3857 A medulloblastoma that is characterized by cells that are larger than would be normally expected. url:http://en.wikipedia.org/wiki/Large_cell disease_ontology DOID:3859 obsolete relapsed medulloblastoma true DOID:3859 disease_ontology Postcardiotomy syndrome DOID:386 obsolete postpericardiotomy syndrome true DOID:386 NCI:C5401 UMLS_CUI:C1332903 Vermis Medulloblastoma disease_ontology DOID:3860 cerebellar vermis medulloblastoma DOID:3860 ICDO:9472/3 MESH:D008527 NCI:C3706 SNOMEDCT_US_2023_03_01:24604009 UMLS_CUI:C0205833 disease_ontology DOID:3861 medullomyoblastoma DOID:3861 disease_ontology DOID:3862 obsolete FAP associated medulloblastoma true DOID:3862 disease_ontology DOID:3863 obsolete region 17p13 allelic loss associated medulloblastoma true DOID:3863 DOID:6380 MESH:D008527 NCI:C4011 UMLS_CUI:C0278876 adult brain medulloblastoma disease_ontology DOID:3864 adult medulloblastoma DOID:3864 A central nervous system embryonal tumor that occurs in adults. NCI:C5411 UMLS_CUI:C1332196 adult CNS PNET adult central nervous system primitive neuroectodermal neoplasm disease_ontology DOID:3865 adult central nervous system embryonal tumor DOID:3865 A central nervous system embryonal tumor that occurs in adults. url:https://pubmed.ncbi.nlm.nih.gov/33477185/ DOID:6926 desmoplastic medulloblastoma (morphologic abnormality) desmoplastic nodular medulloblastoma disease_ontology DOID:3866 OMIM mapping confirmed by DO. [SN]. obsolete desmoplastic medulloblastoma true DOID:3866 disease_ontology DOID:3867 obsolete nevoid basal cell carcinoma syndrome associated medulloblastoma true DOID:3867 MESH:D008527 NCI:C9497 SNOMEDCT_US_2023_03_01:83217000 UMLS_CUI:C1275668 Medulloblastoma, melanotic disease_ontology DOID:3868 melanotic medulloblastoma DOID:3868 MESH:D008527 NCI:C3997 UMLS_CUI:C0278510 pediatric Medulloblastoma disease_ontology DOID:3869 childhood medulloblastoma DOID:3869 A central nervous system embryonal tumor that occurs in childhood. NCI:C5961 UMLS_CUI:C1332957 childhood central nervous system primitive neuroectodermal neoplasm pediatric CNS PNET disease_ontology DOID:3870 childhood central nervous system embryonal tumor DOID:3870 A central nervous system embryonal tumor that occurs in childhood. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315657/ disease_ontology DOID:3871 obsolete medulloblastoma with leptomeningeal spread true DOID:3871 Meningeal carcinomatosis malignant meningitis (disorder) metastatic tumor to the Leptomeninges disease_ontology DOID:3872 obsolete leptomeningeal metastases true DOID:3872 A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network. ICDO:9471/3 NCI:C5407 SNOMEDCT_US_2023_03_01:733902001 UMLS_CUI:C1334970 Medulloblastoma with extensive nodularity desmoplastic nodular medulloblastoma nodular medulloblastoma disease_ontology DOID:3873 According to WHO ICDO Medulloblastoma with extensive nodularity is the same as desmoplastic nodular medulloblastoma. desmoplastic/nodular medulloblastoma DOID:3873 A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network. url:https://pubmed.ncbi.nlm.nih.gov/32304218/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910646/ A phlebitis that results from a blood clot in the vessel. DOID:1146 ICD10CM:I80.0 ICD9CM:451.0 MESH:D013924 NCI:C3410 SNOMEDCT_US_2023_03_01:40283005 SNOMEDCT_US_2023_03_01:64156001 UMLS_CUI:C0040046 UMLS_CUI:C0265057 Phlebitis and thrombophlebitis of superficial vessels of lower extremities Superficial thrombophlebitis of leg Thrombophlebitis of a superficial leg vein Thrombophlebitis of superficial veins of lower extremity disease_ontology DOID:3875 thrombophlebitis DOID:3875 A phlebitis that results from a blood clot in the vessel. url:http://en.wikipedia.org/wiki/Thrombophlebitis url:http://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/thrombophlebitis.html url:http://www.nlm.nih.gov/medlineplus/ency/article/001108.htm MESH:D003112 SNOMEDCT_US_2023_03_01:35065006 UMLS_CUI:C0009377 primary chronic pseudo-obstruction of colon disease_ontology DOID:3876 colonic pseudo-obstruction DOID:3876 MESH:D003109 UMLS_CUI:C0009374 disease_ontology DOID:3877 functional colonic disease DOID:3877 disease_ontology DOID:3878 obsolete intestinal pseudo-obstruction true DOID:3878 Proteus infection Proteus infection (disorder) Proteus infection NOS (disorder) disease_ontology DOID:3881 obsolete Proteus infectious disease true DOID:3881 A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. DOID:0050586 DOID:3040 GARD:9905 MESH:D003123 MIM:PS120435 NCI:C8494 ORDO:144 SNOMEDCT_US_2023_03_01:700064004 UMLS_CUI:C0009405 UMLS_CUI:C4552100 HNPCC Hereditary Defective Mismatch Repair syndrome Hereditary non-polyposis colon cancer Hereditary non-polyposis colon cancer syndrome Hereditary non-polyposis colorectal cancer Hereditary non-polyposis colorectal cancer syndrome Hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer syndrome Hereditary nonpolyposis colorectal cancer syndrome hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm disease_ontology DOID:3883 OMIM mapping confirmed by DO. [SN]. Lynch syndrome NCI:C120083 ORDO:443909 UMLS_CUI:C1333990 GARD:9905 MESH:D003123 MIM:PS120435 NCI:C8494 ORDO:144 UMLS_CUI:C0009405 DOID:3883 A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. url:http://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer url:http://ghr.nlm.nih.gov/condition/lynch-syndrome HNPCC GARD:5732 MESH:D017118 MIM:176000 NCI:C84536 SNOMEDCT_US_2023_03_01:190914003 UMLS_CUI:C0162565 AIP - acute intermittent porphyria Pyrroloporphyria porphyria intermittent acute disease_ontology DOID:3890 acute intermittent porphyria DOID:3890 A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy. MESH:D010927 SNOMEDCT_US_2023_03_01:156185006 UMLS_CUI:C0032051 disease_ontology DOID:3891 placental insufficiency DOID:3891 A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy. url:http://en.wikipedia.org/wiki/Placental_insufficiency A pancreatic cystadenoma that is characterized by the overproduction of insulin. DOID:3903 GARD:3010 ICDO:8151/3 MESH:D007340 MESH:D007516 NCI:C65184 NCI:C95598 SNOMEDCT_US_2023_03_01:189586007 SNOMEDCT_US_2023_03_01:25324008 UMLS_CUI:C0021670 UMLS_CUI:C0022134 Insulin-Producing tumor of Islet cells Islet cell adenoma disease_ontology DOID:3892 insulinoma DOID:3892 A pancreatic cystadenoma that is characterized by the overproduction of insulin. url:https://en.wikipedia.org/wiki/Insulinoma ICDO:8404/0 MESH:D018251 NCI:C3760 SNOMEDCT_US_2023_03_01:80549000 UMLS_CUI:C0206672 Eccrine Cystadenoma Eccrine hidrocystoma of skin apocrine cystadenoma disease_ontology DOID:3893 hidrocystoma MESH:D018251 DOID:3893 ICDO:8401/0 NCI:C4168 SNOMEDCT_US_2023_03_01:307596009 UMLS_CUI:C0334345 tubular Apocrine adenoma disease_ontology DOID:3895 apocrine adenoma DOID:3895 A sweat gland benign neoplasm that is located_in an apical sweat gland. ICDO:8402/0 MESH:D006607 NCI:C7560 SNOMEDCT_US_2023_03_01:81393009 UMLS_CUI:C0019522 Hidradenoma of skin Sweat gland adenoma Syringoadenoma disease_ontology DOID:3896 hidradenoma DOID:3896 A sweat gland benign neoplasm that is located_in an apical sweat gland. url:https://en.wikipedia.org/wiki/Hidradenoma Adnexal adenoma skin appendage adenoma (morphologic abnormality) disease_ontology adenoma of skin appendage DOID:3898 obsolete skin appendage adenoma true DOID:3898 Adnexal and skin appendage neoplasm (morphologic abnormality) Adnexal and skin appendage neoplasm NOS (morphologic abnormality) Adnexal and skin appendage tumor (qualifier value) disease_ontology DOID:3899 obsolete skin appendage neoplasm true DOID:3899 DOID:11956 DOID:11957 DOID:13384 DOID:13385 Antenatal deep vein thrombosis Antenatal deep vein thrombosis NOS (disorder) Antenatal deep vein thrombosis unspecified (disorder) Antepartum deep phlebothrombosis (disorder) Deep phlebothrombosis, antepartum Deep phlebothrombosis, antepartum, unspecified as to episode of care Deep phlebothrombosis, antepartum, with delivery Deep phlebothrombosis, postpartum, with delivery antepartum deep-vein thrombosis postpartum deep-vein thrombosis disease_ontology DOID:390 obsolete venous problem true DOID:390 A vulvar disease that is characterized by inflammation of the vulva. ICD10CM:N76.2 MESH:D014847 SNOMEDCT_US_2023_03_01:63144007 UMLS_CUI:C0042996 disease_ontology DOID:3901 vulvitis DOID:3901 A vulvar disease that is characterized by inflammation of the vulva. url:https://en.wikipedia.org/wiki/Vulvitis A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle. Aujeszky's disease mad itch disease_ontology DOID:3902 obsolete pseudorabies true DOID:3902 A Varicellovirus infectious disease that results_in infection located_in peripheral nervous system in swine, cattle, sheep, dogs and raccoons, has_material_basis_in Suid herpesvirus 1 and has_symptom abortion, has_symptom coughing, has_symptom sneezing, has_symptom fever, has_symptom constipation, has_symptom depression, has_symptom seizures, has_symptom ataxia, has_symptom circling, has_symptom excess salivation in piglets, and has_symptom intense itching in cattle. url:http://en.wikipedia.org/wiki/Pseudorabies url:http://www.plospathogens.org/article/info:doi%2F10.1371%2Fjournal.ppat.1000640 A bronchus cancer that has_material_basis_in epithelial cells. MESH:D002283 NCI:C35875 SNOMEDCT_US_2023_03_01:254622008 UMLS_CUI:C0007121 BC - Bronchogenic carcinoma disease_ontology DOID:3904 bronchus carcinoma DOID:3904 A bronchus cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis. EFO:0001071 NCI:C4878 SNOMEDCT_US_2023_03_01:154485001 UMLS_CUI:C0684249 cancer of lung disease_ontology carcinoma of lung DOID:3905 OMIM mapping confirmed by DO. [SN]. lung carcinoma DOID:3905 A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis. url:https://merck.com/mmpe/sec05/ch062/ch062b.html MESH:D001984 SNOMEDCT_US_2023_03_01:126705004 UMLS_CUI:C0006264 bronchus neoplasm neoplasm of bronchus disease_ontology DOID:3906 bronchial benign neoplasm DOID:3906 A non-small cell lung carcinoma that has_material_basis_in the squamous cell. NCI:C3493 SNOMEDCT_US_2023_03_01:254634000 UMLS_CUI:C0149782 Epidermoid cell carcinoma of the lung disease_ontology squamous cell carcinoma of lung DOID:3907 lung squamous cell carcinoma DOID:3907 A non-small cell lung carcinoma that has_material_basis_in the squamous cell. url:http://cancergenome.nih.gov/cancersselected/lungsquamouscell url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma_of_the_lung url:http://www.cancer.gov/dictionary?CdrID=46595 A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma. EFO:0003060 KEGG:05223 MESH:D002289 NCI:C2926 SNOMEDCT_US_2023_03_01:254637007 UMLS_CUI:C0007131 NSCLC Non-small cell lung cancer non-small cell lung carcinoma disease_ontology DOID:3908 lung non-small cell carcinoma DOID:3908 A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma. url:http://en.wikipedia.org/wiki/Non-small-cell_lung_carcinoma NSCLC Bronchiogenic adenocarcinoma disease_ontology DOID:3909 obsolete bronchogenic lung adenocarcinoma true DOID:3909 A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin. DOID:3909 DOID:4826 EFO:0000571 GARD:5742 MESH:D000077192 NCI:C27745 NCI:C3512 SNOMEDCT_US_2023_03_01:254626006 UMLS_CUI:C0152013 UMLS_CUI:C1335060 bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma disease_ontology adenocarcinoma of lung DOID:3910 lung adenocarcinoma DOID:3910 A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin. url:http://cancergenome.nih.gov/cancersselected/lungadenocarcinoma url:http://en.wikipedia.org/wiki/Adenocarcinoma url:http://en.wikipedia.org/wiki/Adenocarcinoma_of_the_lung A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22. GARD:7467 ICD10CM:E34.8 MEDDRA:10036794 MESH:D011371 MIM:176670 NCI:C34951 ORDO:740 SNOMEDCT_US_2023_03_01:190590004 UMLS_CUI:C0033300 HGPS Hutchinson Gilford syndrome Hutchinson-Gilford Progeria syndrome Hutchinson-Gilford disease disease_ontology DOID:3911 OMIM mapping confirmed by DO. [SN]. progeria DOID:3911 A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22. url:https://www.genome.gov/Genetic-Disorders/Progeria url:https://www.ncbi.nlm.nih.gov/pubmed/12714972 url:https://www.ncbi.nlm.nih.gov/pubmed/16838330 HGPS Ovarian serous Cystadenoma disease_ontology DOID:3914 obsolete serous cystadenoma of ovary true DOID:3914 Atypical proliferating serous tumour Low Malignancy Potential serous Cystadenoma disease_ontology DOID:3916 obsolete borderline malignancy serous cystadenoma true DOID:3916 NCI:C5712 SNOMEDCT_US_2023_03_01:690761000119100 UMLS_CUI:C1335316 disease_ontology DOID:3917 pancreatic serous cystadenoma DOID:3917 NCI:C4374 SNOMEDCT_US_2023_03_01:235967003 UMLS_CUI:C0341486 disease_ontology DOID:3918 pancreatic cystadenoma DOID:3918 NCI:C41248 UMLS_CUI:C1518875 disease_ontology DOID:3919 pancreatic serous cystic neoplasm DOID:3919 NCI:C6504 UMLS_CUI:C1333298 disease_ontology DOID:3923 diffuse lipomatosis DOID:3923 ICD10CM:C34.0 ICD9CM:162.2 SNOMEDCT_US_2023_03_01:187856002 UMLS_CUI:C0153490 Ca main bronchus malignant neoplasm of main bronchus disease_ontology DOID:3924 main bronchus cancer DOID:3924 NCI:C27487 UMLS_CUI:C1336506 disease_ontology DOID:3925 steroid lipomatosis DOID:3925 NCI:C27488 UMLS_CUI:C1334662 disease_ontology DOID:3926 mediastinal lipomatosis DOID:3926 GARD:7350 MESH:C535549 NCI:C27486 SNOMEDCT_US_2023_03_01:190802005 UMLS_CUI:C0406608 disease_ontology DOID:3927 pelvic lipomatosis DOID:3927 A lipomatosis characterized by characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas. GARD:5750 ICD10CM:E88.2 MESH:D000274 MIM:103200 NCI:C84540 SNOMEDCT_US_2023_03_01:71404003 UMLS_CUI:C0001529 Dercum disease disease_ontology DOID:3928 OMIM mapping confirmed by DO. [SN]. adiposis dolorosa MESH:D000274 DOID:3928 A lipomatosis characterized by characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas. url:https://medlineplus.gov/genetics/condition/adiposis-dolorosa/ url:https://www.genome.gov/Genetic-Disorders/Dercum-Disease An inner ear disease which involves inflammation of the inner ear. UMLS_CUI:C1168225 inner ear infection disease_ontology DOID:3930 otitis interna DOID:3930 An inner ear disease which involves inflammation of the inner ear. url:https://www.merriam-webster.com/medical/otitis%20interna ICD10CM:M76.81 MESH:D000868 UMLS_CUI:C0003152 disease_ontology DOID:3933 anterior compartment syndrome DOID:3933 NCI:C4501 SNOMEDCT_US_2020_03_01:254828009 UMLS_CUI:C0346117 malignant lipomatous tumor malignant tumor of Adipose tissue disease_ontology DOID:3939 NCI retired concept, merged with liposarcoma[LS] obsolete lipomatous cancer true DOID:3939 A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses. disease_ontology DOID:3944 Arenaviridae infectious disease DOID:3944 A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses. url:http://en.wikipedia.org/wiki/Arenaviridae ICD10CM:E24.0 MESH:D047748 NCI:C113210 SNOMEDCT_US_2023_03_01:190502001 UMLS_CUI:C0221406 Overproduction of ACTH pituitary-dependent Cushing disease disease_ontology DOID:3946 pituitary-dependent Cushing's disease DOID:3946 MESH:D000308 NCI:C113208 SNOMEDCT_US_2023_03_01:47270006 UMLS_CUI:C0001622 Adrenocortical hyperfunction hyperadrenalism hypercortisolism disease_ontology DOID:3947 adrenal gland hyperfunction DOID:3947 An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. GARD:558 MESH:D018268 MIM:202300 NCI:C9325 SNOMEDCT_US_2023_03_01:255035007 UMLS_CUI:C0206686 Adrenal cortical carcinoma carcinoma of the Adrenal cortex disease_ontology DOID:3948 adrenocortical carcinoma MESH:D018268 DOID:3948 An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://cancergenome.nih.gov/cancersselected/AdrenocorticalCarcinoma url:http://www.cancer.gov/cancertopics/types/adrenocortical An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. carcinoma of the Adrenal gland disease_ontology DOID:3950 adrenal carcinoma DOID:3950 An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Adrenocortical_carcinoma ICD10CM:I40 ICD9CM:422 NCI:C35206 SNOMEDCT_US_2023_03_01:155336004 UMLS_CUI:C0155686 disease_ontology DOID:3951 acute myocarditis DOID:3951 An adrenal gland disease that is located_in the adrenal cortex. MESH:D000303 SNOMEDCT_US_2023_03_01:129636003 UMLS_CUI:C0001614 disease_ontology DOID:3952 adrenal cortex disease DOID:3952 An adrenal gland disease that is located_in the adrenal cortex. url:https://accessmedicine.mhmedical.com/content.aspx?bookid=961&sectionid=53555702 An endocrine gland cancer located_in the adrenal glands which are located above the kidneys. DOID:11007 GARD:5751 ICD10CM:C74 ICD9CM:194.0 MESH:D000310 NCI:C2859 NCI:C9338 SNOMEDCT_US_2023_03_01:127021009 SNOMEDCT_US_2023_03_01:93665005 UMLS_CUI:C0001624 UMLS_CUI:C0750887 adrenal cancer adrenal neoplasm malignant Adrenal tumor malignant neoplasm of adrenal gland neoplasm of adrenal gland tumor of the Adrenal gland disease_ontology DOID:3953 adrenal gland cancer DOID:3953 An endocrine gland cancer located_in the adrenal glands which are located above the kidneys. url:http://en.wikipedia.org/wiki/Adrenal_gland An adrenocortical carcinoma that originates in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. Adrenal cortex adenocarcinoma disease_ontology DOID:3959 adrenal cortical adenocarcinoma DOID:3959 An adrenocortical carcinoma that originates in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adrenocortical_carcinoma A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils. ICD10CM:I42.3 NCI:C27044 SNOMEDCT_US_2023_03_01:33258008 UMLS_CUI:C0264834 Eosinophilic Endomyocardial disease disease_ontology DOID:396 Loeffler endocarditis DOID:396 A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils. url:http://en.wikipedia.org/wiki/L%C3%B6ffler%27s_endocarditis A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells. ICD11:2D10.0 ICDO:8330/3 MESH:D018263 MIM:188470 NCI:C8054 SNOMEDCT_US_2023_03_01:255028004 UMLS_CUI:C0206682 Follicular adenocarcinoma Follicular adenocarcinoma, well differentiated Follicular carcinoma Thyroid adenocarcinoma thyroid gland follicular carcinoma disease_ontology DOID:3962 OMIM mapping confirmed by DO. [SN]. follicular thyroid carcinoma DOID:3962 A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells. url:http://en.wikipedia.org/wiki/Follicular_thyroid_cancer A thyroid gland cancer that has_material_basis_in epithelial cells. EFO:0002892 MESH:D013964 NCI:C4815 UMLS_CUI:C0549473 Thyroid carcinoma head and neck cancer, Thyroid disease_ontology DOID:3963 thyroid gland carcinoma DOID:3963 A thyroid gland cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma NCI:C46095 SNOMEDCT_US_2023_03_01:72174007 UMLS_CUI:C0334327 Follicular adenocarcinoma, trabecular Trabecular Follicular carcinoma disease_ontology DOID:3964 trabecular follicular adenocarcinoma DOID:3964 GARD:9266 ICDO:8247/3 NCI:C4068 SNOMEDCT_US_2023_03_01:29792007 UMLS_CUI:C0302182 Trabecular adenocarcinoma trabecular carcinoma disease_ontology DOID:3965 Merkel cell carcinoma DOID:3965 MESH:D018265 NCI:C7380 SNOMEDCT_US_2023_03_01:189643000 UMLS_CUI:C0206683 disease_ontology DOID:3968 Obsolete concept in NCI, reviewed June 2024 [LS] obsolete papillary follicular thyroid adenocarcinoma true DOID:3968 A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland. GARD:12027 ICD11:2D10.1 ICDO:8260/3 MESH:D000077273 MIM:188550 NCI:C4035 SNOMEDCT_US_2023_03_01:255029007 UMLS_CUI:C0238463 Papillary carcinoma of the Thyroid gland Papillary carcinoma of thyroid thyroid gland papillary carcinoma disease_ontology DOID:3969 OMIM mapping confirmed by DO. [SN]. papillary thyroid carcinoma DOID:3969 A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland. url:http://cancergenome.nih.gov/cancersselected/thyroid url:http://en.wikipedia.org/wiki/Papillary_thyroid_cancer url:https://www.ncbi.nlm.nih.gov/pubmed/21455196 An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium. ICD10CM:I42.5 MESH:D002313 MIM:115210 MIM:PS115210 NCI:C62798 ORDO:75249 SNOMEDCT_US_2023_03_01:389996009 UMLS_CUI:C0007196 Cardiomyopathy, constrictive primary restrictive cardiomyopathy disease_ontology Familial restrictive cardiomyopathy DOID:397 Xref MGI. OMIM mappings 115210, 612422 added from NeuroDevNet [WAK]. restrictive cardiomyopathy DOID:397 An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium. url:https://www.ncbi.nlm.nih.gov/pubmed/8995091 Familial restrictive cardiomyopathy MIM:115210 A thyroid gland carcinoma that has_material_basis_in parafollicular cells. ICDO:8345/3 MESH:C536914 NCI:C3879 SNOMEDCT_US_2023_03_01:255032005 UMLS_CUI:C0238462 Medullary carcinoma of the Thyroid gland Parafollicular cell carcinoma Ultimobranchial thyroid tumor Ultimobranchial thyroid tumour thyroid gland medullary carcinoma disease_ontology DOID:3973 medullary thyroid carcinoma DOID:3973 A thyroid gland carcinoma that has_material_basis_in parafollicular cells. url:http://en.wikipedia.org/wiki/Medullary_thyroid_cancer url:https://www.ncbi.nlm.nih.gov/books/NBK459354/ Medullary carcinoma Medullary carcinoma (morphologic abnormality) Medullary carcinoma NOS (morphologic abnormality) disease_ontology DOID:3974 obsolete medullary carcinoma true DOID:3974 A cardiomyopathy that is characterized by the pathology occurring outside of the myocardium. ICD9CM:425.8 SNOMEDCT_US_2023_03_01:195580005 UMLS_CUI:C0155699 disease_ontology DOID:3978 extrinsic cardiomyopathy DOID:3978 A cardiomyopathy that is characterized by the pathology occurring outside of the myocardium. url:http://en.wikipedia.org/wiki/Cardiomyopathy DOID:1031 Tuberculosis cutis Tuberculosis of skin (disorder) Tuberculosis of skin and subcutaneous cellular tissue, unspecified examination tuberculosis of skin and subcutaneous cellular tissue disease_ontology DOID:398 obsolete cutaneous tuberculosis true DOID:398 A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13. GARD:6564 ICD10CM:G23.0 MESH:D006211 MIM:234200 NCI:C8967 ORDO:157850 SNOMEDCT_US_2023_03_01:2992000 UMLS_CUI:C0018523 Hallervorden-Spatz disease Hallervorden-Spatz syndrome NBIA1 Pigmentary pallidal degeneration brain Iron Accumulation type I syndrome neurodegeneration with brain iron accumulation 1 disease_ontology DOID:3981 OMIM mapping confirmed by DO. [SN]. pantothenate kinase-associated neurodegeneration DOID:3981 A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13. url:http://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration NBIA1 A cranio-facial dystonia that is accompanied by blepharospasm. GARD:7008 MESH:D008538 SNOMEDCT_US_2023_03_01:230325003 UMLS_CUI:C0025183 disease_ontology DOID:3982 Meige syndrome DOID:3982 A cranio-facial dystonia that is accompanied by blepharospasm. url:https://www.ncbi.nlm.nih.gov/books/NBK513358/ A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules. MESH:D009814 SNOMEDCT_US_2023_03_01:22500005 UMLS_CUI:C0028887 Infection by Oesophagostomum disease_ontology DOID:3983 oesophagostomiasis DOID:3983 A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules. url:http://www.dpd.cdc.gov/dpdx/HTML/Oesophagostomiasis.htm A parasitic helminthiasis infectious disease that involves infection of the intestine in horses by the nematode Strongylus equinus. Infection by Strongylus equinus (disorder) equine strongyle infectious disease disease_ontology DOID:3984 obsolete Strongylus equinus infectious disease true DOID:3984 A parasitic helminthiasis infectious disease that involves infection of the intestine in horses by the nematode Strongylus equinus. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1236195/pdf/compmed00004-0024.pdf A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia. MESH:D010029 UMLS_CUI:C0029471 disease_ontology DOID:3985 ostertagiasis DOID:3985 A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia. url:https://pubmed.ncbi.nlm.nih.gov/3284162/ A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. DOID:10096 DOID:12688 DOID:12691 DOID:415 DOID:9901 DOID:9902 GARD:7827 MESH:D014375 SNOMEDCT_US_2023_03_01:15202009 UMLS_CUI:C0041295 disease_ontology DOID:399 tuberculosis MESH:D014376 DOID:399 A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. url:https://www.merckmanuals.com/home/infections/tuberculosis-and-related-infections/tuberculosis-tb An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. ICD10CM:C68.9 ICD9CM:189.9 SNOMEDCT_US_2023_03_01:448233000 UMLS_CUI:C0348371 disease_ontology DOID:3996 urinary system cancer DOID:3996 An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. url:http://en.wikipedia.org/wiki/Urinary_system disease_ontology DOID:3997 obsolete urinary tract infiltrating transitional cell carcinoma true DOID:3997 A Bartholin's gland carcinoma that derives_from transitional epithelial cells. NCI:C40297 UMLS_CUI:C1511053 Bartholin gland transitional cell carcinoma disease_ontology DOID:3998 Bartholin's gland transitional cell carcinoma DOID:3998 A Bartholin's gland carcinoma that derives_from transitional epithelial cells. url:https://www.ncbi.nlm.nih.gov/articles/PMC4081365/ A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland. NCI:C9055 SNOMEDCT_US_2023_03_01:399533005 UMLS_CUI:C0349561 Bartholin gland carcinoma carcinoma of Bartholin's gland disease_ontology DOID:3999 Bartholin's gland carcinoma DOID:3999 A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland. url:http://en.wikipedia.org/wiki/Bartholin%27s_gland url:http://en.wikipedia.org/wiki/Carcinoma A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. MESH:D004194 NCI:C2991 SNOMEDCT_US_2023_03_01:64572001 UMLS_CUI:C0012634 disease_ontology DOID:4 disease DOID:4 A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3041577/ An ovarian epithelial cancer that derives_from epithelial transitional cells. DOID:2637 DOID:4002 NCI:C5240 UMLS_CUI:C1335184 malignant ovarian transitional cell neoplasm ovarian transitional cell cancer transitional cell carcinoma of Ovary disease_ontology ovarian transitional cell neoplasm DOID:4000 ovary transitional cell carcinoma DOID:4000 An ovarian epithelial cancer that derives_from epithelial transitional cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362466/ An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary. EFO:0001075 UMLS_CUI:C0677886 disease_ontology DOID:4001 OMIM mapping confirmed by DO. [SN]. ovarian carcinoma DOID:4001 An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary. url:https://www.cancer.gov/types/ovarian ICDO:8121/3 NCI:C54287 SNOMEDCT_US_2023_03_01:5600009 UMLS_CUI:C0334270 Cylindrical cell carcinoma disease_ontology DOID:4003 Schneiderian carcinoma DOID:4003 An endometrial carcinoma that derives_from transitional epithelial cells. NCI:C40154 UMLS_CUI:C1516864 disease_ontology DOID:4005 endometrial transitional cell carcinoma DOID:4005 An endometrial carcinoma that derives_from transitional epithelial cells. url:http://en.wikipedia.org/wiki/Transitional_cell_carcinoma A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder. NCI:C39851 SNOMEDCT_US_2023_03_01:393562002 UMLS_CUI:C0279680 bladder transitional cell carcinoma transitional cell carcinoma of bladder urinary bladder urothelial carcinoma urothelial bladder carcinoma disease_ontology DOID:4006 bladder urothelial carcinoma DOID:4006 A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder. url:http://cancergenome.nih.gov/cancersselected/UrothelialBladderCarcinoma url:http://www.cancer.gov/dictionary?cdrid=46629 A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C4912 SNOMEDCT_US_2023_03_01:269607003 UMLS_CUI:C0699885 carcinoma of urinary bladder disease_ontology DOID:4007 bladder carcinoma DOID:4007 A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:https://www.mayoclinic.org/diseases-conditions/bladder-cancer/symptoms-causes/syc-20356104 A fallopian tube carcinoma that derives_from epithelial transitional cells. NCI:C40104 UMLS_CUI:C1517128 disease_ontology DOID:4008 fallopian tube transitional cell carcinoma DOID:4008 A fallopian tube carcinoma that derives_from epithelial transitional cells. url:https://pubmed.ncbi.nlm.nih.gov/26894303/ Urothelial carcinoma of the renal Pelvis and Ureter disease_ontology DOID:4009 obsolete renal pelvis and ureter transitional cell cancer true DOID:4009 A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs. MESH:D018088 NCI:C128415 SNOMEDCT_US_2023_03_01:423092005 UMLS_CUI:C0206526 disease_ontology DOID:401 multidrug-resistant tuberculosis DOID:401 A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs. url:http://en.wikipedia.org/wiki/Multidrug-resistant_tuberculosis disease_ontology DOID:4010 obsolete renal pelvis and ureter cancer true DOID:4010 A prostate carcinoma that derives_from transitional epithelial cells. transitional cell carcinoma of prostate disease_ontology DOID:4011 prostate transitional cell carcinoma DOID:4011 A prostate carcinoma that derives_from transitional epithelial cells. url:https://www.ncbi.nlm.nih.gov/pubmed/6506393 A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium. NCI:C4122 SNOMEDCT_US_2023_03_01:12400006 UMLS_CUI:C0334274 Papillary transitional cell carcinoma disease_ontology DOID:4012 papillary transitional carcinoma DOID:4012 A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium. url:https://www.healthline.com/health/papillary-urothelial-carcinoma An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter. NCI:C6166 UMLS_CUI:C0863015 urethral transitional cell carcinoma disease_ontology DOID:4013 urethra transitional cell carcinoma DOID:4013 An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter. url:https://pubmed.ncbi.nlm.nih.gov/31950597/ url:https://pubmed.ncbi.nlm.nih.gov/9730148/ A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium. NCI:C4120 SNOMEDCT_US_2023_03_01:112676006 UMLS_CUI:C0334271 transitional cell carcinoma, sarcomatoid transitional spindle cell carcinoma disease_ontology DOID:4014 sarcomatoid transitional cell carcinoma DOID:4014 A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium. url:http://www.sciencedirect.com/science/article/pii/S0090429505013439 url:https://pubmed.ncbi.nlm.nih.gov/16504263/ A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features. MESH:D002277 NCI:C27004 SNOMEDCT_US_2023_03_01:65692009 UMLS_CUI:C0205697 spindle cell carcinoma disease_ontology DOID:4015 sarcomatoid carcinoma DOID:4015 A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27004 A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located in tongue, located in palate, located in maxilla or located in mandible. MESH:D014393 SNOMEDCT_US_2023_03_01:235067001 UMLS_CUI:C0041323 disease_ontology DOID:402 oral tuberculosis DOID:402 A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located in tongue, located in palate, located in maxilla or located in mandible. url:https://www.ncbi.nlm.nih.gov/pubmed/16900894 psychomotor disorder disease_ontology DOID:4020 obsolete psychomotor disease true DOID:4020 A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder. MESH:D014518 MIM:191650 NCI:C123159 SNOMEDCT_US_2023_03_01:12818004 UMLS_CUI:C0041960 disease_ontology DOID:4022 OMIM mapping confirmed by DO. [LS]. ureterocele DOID:4022 A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder. url:https://www.ncbi.nlm.nih.gov/pubmed/23969704 ICDO:8142/3 MESH:D008039 NCI:C3190 SNOMEDCT_US_2023_03_01:307594007 UMLS_CUI:C0023743 Leather-bottle stomach disease_ontology DOID:4023 linitis plastica DOID:4023 An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma. ICDO:8141/3 MESH:D002293 NCI:C2928 SNOMEDCT_US_2023_03_01:4584002 UMLS_CUI:C0007135 adenocarcinoma with Productive Fibrosis disease_ontology DOID:4024 scirrhous adenocarcinoma DOID:4024 An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma. url:https://pubmed.ncbi.nlm.nih.gov/34084475/ MESH:D013231 UMLS_CUI:C0038235 disease_ontology DOID:4025 non-human, term inherited from mesh, obsoleting:LS obsolete steatitis true DOID:4025 disease_ontology DOID:4026 obsolete vitamin E deficiency true DOID:4026 FETAL DISTRESS Fetal distress Fetal distress (finding) Fetal distress NOS Fetal distress NOS (finding) Fetal distress unspecified (finding) disease_ontology DOID:4027 obsolete fetal distress true DOID:4027 A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin. ICD10CM:L81.7 MIM:106050 MIM:300652 NCI:C3926 ORDO:95429 SNOMEDCT_US_2023_03_01:49465005 UMLS_CUI:C0263637 Angioma serpiginosum of skin disease_ontology DOID:4028 Xref MGI. angioma serpiginosum DOID:4028 A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin. url:http://www.dermnetnz.org/vascular/angioma-serpiginosa.html A stomach disease that is an inflammation of the lining of the stomach. DOID:4032 DOID:8697 DOID:8845 DOID:9190 ICD10CM:K29.7 MESH:D005756 NCI:C26780 SNOMEDCT_US_2023_03_01:155711008 UMLS_CUI:C0017152 Erosive Gastritis Erosive gastropathy acute gastric mucosal erosion disease_ontology DOID:4029 gastritis DOID:4029 A stomach disease that is an inflammation of the lining of the stomach. url:http://en.wikipedia.org/wiki/Gastritis A gastrointestinal system disease that is located_in the mouth. MESH:D009059 NCI:C27641 SNOMEDCT_US_2023_03_01:118938008 UMLS_CUI:C0026636 disease_ontology DOID:403 mouth disease DOID:403 A gastrointestinal system disease that is located_in the mouth. url:http://en.wikipedia.org/wiki/Oral_and_maxillofacial_pathology ICD9CM:535.7 NCI:C27052 SNOMEDCT_US_2023_03_01:196738004 UMLS_CUI:C0267154 disease_ontology DOID:4030 eosinophilic gastritis DOID:4030 ICD9CM:558.41 NCI:C35330 SNOMEDCT_US_2023_03_01:359804008 UMLS_CUI:C1262481 disease_ontology DOID:4031 eosinophilic gastroenteritis DOID:4031 A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting. NCI:C27340 SNOMEDCT_US_2023_03_01:723096000 UMLS_CUI:C0948039 disease_ontology DOID:4033 bacterial gastritis DOID:4033 A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting. url:http://www.merck.com/mmhe/sec09/ch121/ch121b.html url:https://www.niddk.nih.gov/health-information/digestive-diseases/gastritis-gastropathy/definition-facts A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients. NCI:C27342 SNOMEDCT_US_2023_03_01:723097009 UMLS_CUI:C0948638 disease_ontology DOID:4034 fungal gastritis DOID:4034 A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients. url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html NCI:C27051 SNOMEDCT_US_2023_03_01:235658000 UMLS_CUI:C1283271 disease_ontology DOID:4035 lymphocytic gastritis DOID:4035 A commensal Helicobacter infectious disease that involves inflammation of the stomach lining caused by Helicobacter pylori, which contributes to ulcer formation by increasing acid production, interfering with the normal defenses against stomach acid, and producing toxins. The symptoms include indigestion and pain or discomfort in the upper abdomen. Helicobacter gastritis Helicobacter-associated gastritis (disorder) disease_ontology DOID:4036 obsolete Helicobacter pylori gastritis true DOID:4036 A commensal Helicobacter infectious disease that involves inflammation of the stomach lining caused by Helicobacter pylori, which contributes to ulcer formation by increasing acid production, interfering with the normal defenses against stomach acid, and producing toxins. The symptoms include indigestion and pain or discomfort in the upper abdomen. url:http://jcp.bmjjournals.com/content/54/10/774.full url:http://www.merck.com/mmhe/sec09/ch121/ch121b.html NCI:C27329 UMLS_CUI:C0877152 disease_ontology DOID:4037 necrotizing gastritis DOID:4037 ICD10CM:K29.6 NCI:C27348 UMLS_CUI:C1112577 disease_ontology DOID:4038 granulomatous gastritis DOID:4038 disease_ontology DOID:4039 obsolete Crohn's associated gastritis true DOID:4039 An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom constipation, has_symptom nausea, and has_symptom vomiting. DOID:9802 MESH:D014385 SNOMEDCT_US_2023_03_01:154286002 UMLS_CUI:C0041312 Tuberculosis of gastrointestinal tract Tuberculosis of intestines, peritoneum, and mesenteric glands tuberculosis of intestines, peritoneum and mesenteric glands disease_ontology DOID:404 gastrointestinal tuberculosis DOID:404 An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom constipation, has_symptom nausea, and has_symptom vomiting. url:http://smj.sma.org.sg/5006/5006pe1.pdf url:https://www.ncbi.nlm.nih.gov/pubmed/12864956 NCI:C6516 UMLS_CUI:C1334619 malignant tumor of Skeletal Muscle disease_ontology DOID:4043 skeletal muscle cancer DOID:4043 NCI:C6514 SNOMEDCT_US_2023_03_01:699955004 UMLS_CUI:C1335971 tumor of Skeletal Muscle disease_ontology DOID:4044 skeletal muscle neoplasm DOID:4044 A musculoskeletal system cancer that is located_in muscle. DOID:4046 ICD10CM:C49 MESH:D009217 MESH:D019042 NCI:C4883 SNOMEDCT_US_2023_03_01:20667008 SNOMEDCT_US_2023_03_01:93913006 UMLS_CUI:C0027095 UMLS_CUI:C0684743 malignant neoplasm of muscle malignant tumor of muscle malignant tumor of the Muscle myosarcoma disease_ontology DOID:4045 muscle cancer DOID:4045 A musculoskeletal system cancer that is located_in muscle. url:http://en.wikipedia.org/wiki/Muscle A rhabdomyosarcoma and sarcoma of liver that are located_in the liver. NCI:C5834 UMLS_CUI:C1333975 Rhabdomyosarcoma of Liver disease_ontology DOID:4047 liver rhabdomyosarcoma DOID:4047 A rhabdomyosarcoma and sarcoma of liver that are located_in the liver. url:http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/HealthProfessional/page6 NCI:C5464 UMLS_CUI:C1332891 Rhabdomyosarcoma of the CNS disease_ontology DOID:4048 central nervous system rhabdomyosarcoma DOID:4048 A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents. NCI:C6617 UMLS_CUI:C1334677 Rhabdomyosarcoma of mediastinum disease_ontology DOID:4049 mediastinum rhabdomyosarcoma DOID:4049 A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents. url:https://pubmed.ncbi.nlm.nih.gov/28024111/ A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum. NCI:C6606 UMLS_CUI:C1334678 sarcoma of mediastinum disease_ontology DOID:4050 mediastinum sarcoma DOID:4050 A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum. url:https://www.sciencedirect.com/science/article/pii/S1556086415305220 DOID:4382 GARD:4701 ICDO:8920/3 MESH:D018232 MIM:268220 NCI:C3749 NCI:C7958 SNOMEDCT_US_2023_03_01:404053004 UMLS_CUI:C0206655 UMLS_CUI:C0279613 alveolar childhood rhabdomyosarcoma disease_ontology DOID:4051 OMIM mapping confirmed by DO. [SN]. alveolar rhabdomyosarcoma DOID:4051 relapsed Rhabdomyosarcoma disease_ontology DOID:4052 obsolete rhabdomyosarcoma recurrent true DOID:4052 A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors. NCI:C5627 UMLS_CUI:C1335687 Rhabdomyosarcoma of rectum disease_ontology DOID:4053 rectum rhabdomyosarcoma DOID:4053 A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors. url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma A prostate cancer that is located_in the prostate. NCI:C7731 UMLS_CUI:C0238393 sarcoma of the prostate disease_ontology DOID:4054 prostate sarcoma DOID:4054 A prostate cancer that is located_in the prostate. url:https://radiopaedia.org/articles/prostate-sarcoma ICDO:8921/3 NCI:C4716 SNOMEDCT_US_2023_03_01:128750008 UMLS_CUI:C0431111 Rhabdomyosarcoma with ganglionic differentiation disease_ontology DOID:4055 ectomesenchymoma DOID:4055 disease_ontology DOID:4056 obsolete adult rhabdomyosarcoma true DOID:4056 A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles. NCI:C5839 UMLS_CUI:C1333756 Rhabdomyosarcoma of the gallbladder disease_ontology DOID:4057 gallbladder rhabdomyosarcoma DOID:4057 A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles. url:http://en.wikipedia.org/wiki/Rhabdomyosarcoma url:https://gut.bmj.com/content/35/6/854 A sarcoma that is located_in the gallbladder. NCI:C5736 UMLS_CUI:C1333757 malignant mesenchymal tumor of gallbladder disease_ontology DOID:4058 gallbladder sarcoma DOID:4058 A sarcoma that is located_in the gallbladder. url:https://www.ncbi.nlm.nih.gov/pubmed/19194282 An ovary sarcoma that arises from skeletal muscle progenitors. NCI:C5236 UMLS_CUI:C1335176 Rhabdomyosarcoma of Ovary disease_ontology DOID:4059 ovary rhabdomyosarcoma DOID:4059 An ovary sarcoma that arises from skeletal muscle progenitors. url:https://www.ncbi.nlm.nih.gov/pubmed/9553806 A breast sarcoma that arises from skeletal muscle cells. NCI:C5190 UMLS_CUI:C1332637 Rhabdomyosarcoma of the breast disease_ontology DOID:4060 breast rhabdomyosarcoma DOID:4060 A breast sarcoma that arises from skeletal muscle cells. url:https://en.wikipedia.org/wiki/Rhabdomyosarcoma A testis sarcoma that arises from mesenchymal cells and is located_in the testis. NCI:C6378 UMLS_CUI:C1336726 Rhabdomyosarcoma of testis disease_ontology DOID:4061 testis rhabdomyosarcoma DOID:4061 A testis sarcoma that arises from mesenchymal cells and is located_in the testis. url:https://www.ncbi.nlm.nih.gov/pubmed/21470524 A sarcoma and malignant neoplasm of testis that is located_in the testis. NCI:C6359 UMLS_CUI:C1336727 sarcoma of testis disease_ontology DOID:4062 testis sarcoma DOID:4062 A sarcoma and malignant neoplasm of testis that is located_in the testis. url:https://jamanetwork.com/journals/jama/fullarticle/462919 A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct. NCI:C5029 UMLS_CUI:C2205442 sarcoma of the bile duct disease_ontology DOID:4064 bile duct sarcoma DOID:4064 A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct. url:http://en.wikipedia.org/wiki/Sarcoma_botryoides ICDO:8902/3 SNOMEDCT_US_2023_03_01:62383007 UMLS_CUI:C0334481 mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma disease_ontology DOID:4065 mixed type rhabdomyosarcoma DOID:4065 A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus. NCI:C5610 UMLS_CUI:C1332276 rhabdomyosarcoma of anus disease_ontology DOID:4066 anus rhabdomyosarcoma DOID:4066 A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422314/ A sarcoma and malignant neoplasm of anus that is located_in the anus. NCI:C5611 UMLS_CUI:C1332277 sarcoma of anus disease_ontology DOID:4067 anus sarcoma DOID:4067 A sarcoma and malignant neoplasm of anus that is located_in the anus. url:http://en.wikipedia.org/wiki/Sarcoma A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice. MESH:D014386 SNOMEDCT_US_2023_03_01:186273003 UMLS_CUI:C0041313 Tuberculosis of liver disease_ontology DOID:407 hepatic tuberculosis DOID:407 A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425874/ MESH:D004383 SNOMEDCT_US_2023_03_01:9733003 UMLS_CUI:C0013299 disease_ontology DOID:4071 duodenogastric reflux DOID:4071 An intestinal disease that is located_in the duodenum. MESH:D004378 SNOMEDCT_US_2023_03_01:196598004 UMLS_CUI:C0013289 duodenal disease duodenum disorder disease_ontology DOID:4072 duodenum disease DOID:4072 An intestinal disease that is located_in the duodenum. url:https://medlineplus.gov/ency/article/002347.htm NCI:C3874 SNOMEDCT_US_2023_03_01:235966007 UMLS_CUI:C0238337 cystadenocarcinoma of pancreas disease_ontology DOID:4073 pancreatic cystadenocarcinoma DOID:4073 A pancreatic carcinoma that derives_from epithelial cells of glandular origin. NCI:C8294 SNOMEDCT_US_2023_03_01:700423003 UMLS_CUI:C0281361 pancreas adenocarcinoma disease_ontology adenocarcinoma of the pancreas DOID:4074 pancreatic adenocarcinoma DOID:4074 A pancreatic carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma ICDO:8161/3 NCI:C4130 SNOMEDCT_US_2023_03_01:50422007 UMLS_CUI:C0334286 biliary cystadenocarcinoma disease_ontology DOID:4075 bile duct cystadenocarcinoma DOID:4075 disease_ontology DOID:4076 obsolete pleomorphic adenoma of the breast true DOID:4076 disease_ontology DOID:4077 obsolete metastasizing mixed tumor of salivary gland true DOID:4077 A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve. MESH:D014264 NCI:C50783 SNOMEDCT_US_2023_03_01:49915006 UMLS_CUI:C0040963 Tricuspid stenosis disease_ontology DOID:4078 tricuspid valve stenosis DOID:4078 A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve. url:http://en.wikipedia.org/wiki/Tricuspid_valve_stenosis A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right). DOID:989 MESH:D006349 MESH:D016127 NCI:C45525 SNOMEDCT_US_2023_03_01:368009 SNOMEDCT_US_2023_03_01:398995000 UMLS_CUI:C0018824 UMLS_CUI:C0079485 Valvular heart disease disease_ontology DOID:4079 heart valve disease DOID:4079 A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right). url:http://en.wikipedia.org/wiki/Heart_valve_disease A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal. MESH:D014262 NCI:C50842 SNOMEDCT_US_2023_03_01:111287006 UMLS_CUI:C0040961 Tricuspid incompetence Tricuspid regurgitation Tricuspid valve regurgitation disease_ontology DOID:4080 tricuspid valve insufficiency DOID:4080 A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal. url:http://en.wikipedia.org/wiki/Tricuspid_insufficiency NCI:C39934 UMLS_CUI:C1515301 disease_ontology DOID:4084 testicular trophoblastic tumor DOID:4084 A germ cell and embryonal cancer that derives_from trophoblastic tissue. MESH:D014328 NCI:C3422 SNOMEDCT_US_2023_03_01:115234004 UMLS_CUI:C0041182 Trophoblastic tumor disease_ontology DOID:4085 trophoblastic neoplasm DOID:4085 A germ cell and embryonal cancer that derives_from trophoblastic tissue. url:http://en.wikipedia.org/wiki/Trophoblastic_neoplasm A testicular germ cell cancer characterized by the absence of a seminomatous component. ICDO:9065/3 NCI:C9313 SNOMEDCT_US_2023_03_01:107691000119101 UMLS_CUI:C2057625 Testicular Non-Seminomatous Germ Cell Tumor disease_ontology DOID:4086 testicular germ cell tumor non-seminomatous DOID:4086 A testicular germ cell cancer characterized by the absence of a seminomatous component. url:https://pubmed.ncbi.nlm.nih.gov/24819978/ NCI:C39915 UMLS_CUI:C1514608 disease_ontology DOID:4087 testicular pure germ cell tumor DOID:4087 A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces. disease_ontology DOID:4088 obsolete Torovirus infectious disease true DOID:4088 A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Torovirus, which is transmitted_by ingestion of food contaminated with feces. url:http://www.expasy.org/viralzone/all_by_species/127.html DOID:2164 DOID:2165 DOID:46 ICD10CM:K76.9 ICD9CM:573.9 MESH:D008107 NCI:C3196 SNOMEDCT_US_2023_03_01:62857009 UMLS_CUI:C0023895 disorder of liver hepatic disorder disease_ontology DOID:409 liver disease DOID:409 A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. DOID:4019 GARD:8 ICD10CM:R48.1 MESH:D000377 NCI:C84542 SNOMEDCT_US_2023_03_01:42341009 UMLS_CUI:C0001816 Dyspraxia Dyspraxia syndrome disease_ontology DOID:4090 agnosia MESH:D000377 DOID:4090 A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. url:http://en.wikipedia.org/wiki/Agnosia A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses. disease_ontology DOID:4091 obsolete Caliciviridae infectious disease true DOID:4091 A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses. url:http://en.wikipedia.org/wiki/Caliciviridae A viral infectious disease that results_in_formation_of vesicles located_in epithelium of the snout, lips, nostrils, tongue, feet and mammary glands of swine, has_material_basis_in Vesicular exanthema of swine virus, which is transmitted_by direct contact. VES disease_ontology DOID:4092 obsolete vesicular exanthema of swine true DOID:4092 A viral infectious disease that results_in_formation_of vesicles located_in epithelium of the snout, lips, nostrils, tongue, feet and mammary glands of swine, has_material_basis_in Vesicular exanthema of swine virus, which is transmitted_by direct contact. url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/54600.htm metastatic squamous cell carcinoma metastatic squamous cell carcinoma (disorder) squamous cell carcinoma, metastatic (morphologic abnormality) squamous cell carcinoma, metastatic NOS (morphologic abnormality) disease_ontology DOID:4099 obsolete metastatic squamous cell carcinoma true DOID:4099 Tuberculous Ascites Tuberculous ascites (disorder) disease_ontology DOID:410 obsolete tuberculous ascites true DOID:410 secondary carcinoma secondary carcinoma NOS (disorder) disease_ontology DOID:4102 obsolete secondary carcinoma true DOID:4102 A viral infectious disease that results_in infection in cattle, has_material_basis_in Rinderpest virus, which is transmitted_by direct contact with an infected animal, or transmitted_by ingestion of contaminated water. The infection has_symptom fever, has_symptom nasal and eye discharge, and results_in_formation_of erosions in the mouth, the lining of the nose and the genital tract. cattle plague steppe murrain disease_ontology DOID:4104 obsolete rinderpest true DOID:4104 A viral infectious disease that results_in infection in cattle, has_material_basis_in Rinderpest virus, which is transmitted_by direct contact with an infected animal, or transmitted_by ingestion of contaminated water. The infection has_symptom fever, has_symptom nasal and eye discharge, and results_in_formation_of erosions in the mouth, the lining of the nose and the genital tract. url:http://en.wikipedia.org/wiki/Rinderpest A viral infectious disease that results_in infection located_in respiratory system, located_in gastrointestinal system, and located_in nervous system of dogs, foxes, wolves, coyotes, raccoons, skunks, and ferrets, has_material_basis_in Canine distemper virus, which is transmitted_by droplet spread of respiratory secretions from an infected animal. The infection has_symptom fever, has_symptom nasal discharge, has_symptom coughing, has_symptom vomiting, has_symptom diarrhea, has_symptom seizures, and has_symptom twitching. disease_ontology DOID:4105 obsolete canine distemper true DOID:4105 A viral infectious disease that results_in infection located_in respiratory system, located_in gastrointestinal system, and located_in nervous system of dogs, foxes, wolves, coyotes, raccoons, skunks, and ferrets, has_material_basis_in Canine distemper virus, which is transmitted_by droplet spread of respiratory secretions from an infected animal. The infection has_symptom fever, has_symptom nasal discharge, has_symptom coughing, has_symptom vomiting, has_symptom diarrhea, has_symptom seizures, and has_symptom twitching. url:http://www.avma.org/animal_health/brochures/canine_distemper/distemper_brochure.asp disease_ontology DOID:4106 obsolete commensal Bacteroidaceae infectious disease true DOID:4106 disease_ontology DOID:4107 obsolete primary Flavobacteriaceae infectious disease true DOID:4107 A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice. MESH:D013984 UMLS_CUI:C0040196 disease_ontology DOID:4109 tick infestation DOID:4109 A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice. url:http://en.wikipedia.org/wiki/Tick url:http://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm Bovine tuberculosis (disorder) Infection due to Mycobacterium bovis (disorder) disease_ontology DOID:411 obsolete bovine tuberculosis true DOID:411 A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host. MESH:D004478 UMLS_CUI:C0013578 ectoparasitism disease_ontology DOID:4110 parasitic ectoparasitic infectious disease DOID:4110 A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host. url:http://en.wikipedia.org/wiki/Ectoparasitic_infestation A cervical carcinosarcoma that is located_in the cervix. NCI:C40229 SNOMEDCT_US_2023_03_01:764847000 UMLS_CUI:C1516426 cervical Muellerian adenosarcoma cervical Mullerian adenosarcoma disease_ontology DOID:4111 cervical adenosarcoma DOID:4111 A cervical carcinosarcoma that is located_in the cervix. url:https://pubmed.ncbi.nlm.nih.gov/17292949/ A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. DOID:4431 DOID:6173 NCI:C36097 NCI:C40226 NCI:C40228 SNOMEDCT_US_2023_03_01:764951002 UMLS_CUI:C1332917 UMLS_CUI:C1516420 UMLS_CUI:C1518168 cervical malignant mixed Mullerian tumor cervical malignant mixed mesodermal mullerian tumor cervical mixed epithelial and mesenchymal neoplasm disease_ontology DOID:4112 cervical carcinosarcoma DOID:4112 A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. url:https://www.ncbi.nlm.nih.gov/pubmed/18357808 An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus. NCI:C6336 UMLS_CUI:C1336917 uterine Corpus mullerian adenosarcoma disease_ontology adenosarcoma of uterine corpus DOID:4113 uterine corpus adenosarcoma DOID:4113 An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus. url:http://www.wrongdiagnosis.com/a/adenosarcoma_of_the_uterus/intro.htm A uterine corpus cancer that has_material_basis_in more than one type of cell. NCI:C6311 UMLS_CUI:C1334628 malignant mixed tumor of Corpus Uteri disease_ontology DOID:4114 uterine body mixed cancer DOID:4114 A uterine corpus cancer that has_material_basis_in more than one type of cell. url:http://en.wikipedia.org/wiki/Uterine_cancer An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. NCI:C7317 UMLS_CUI:C1335169 Ovarian mullerian Adenosarcoma disease_ontology DOID:4115 ovarian mesodermal adenosarcoma DOID:4115 An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. url:https://www.ncbi.nlm.nih.gov/pubmed/12360039 A vaginal carcinosarcoma derives_from the glands that line the uterus. NCI:C40277 UMLS_CUI:C1519914 disease_ontology DOID:4117 vaginal adenosarcoma DOID:4117 A vaginal carcinosarcoma derives_from the glands that line the uterus. url:http://www.wrongdiagnosis.com/medical/mullerian_adenosarcoma_of_the_uterus.htm NCI:C5697 SNOMEDCT_US_2023_03_01:1162856006 UMLS_CUI:C1333097 Colonic neuroendocrine tumor disease_ontology DOID:4118 colon neuroendocrine neoplasm DOID:4118 NCI:C5695 UMLS_CUI:C1334231 intestinal neuroendocrine benign tumour neuroendocrine tumor of Intestine neuroendocrine tumour of Intestine disease_ontology DOID:4119 intestinal neuroendocrine benign tumor DOID:4119 Atypical mycobacterium infection NOS Infection due to mycobacterium, non-TB Mycobacterial infection (excluding tuberculosis AND leprosy) (disorder) Mycobacterial infection, NOS (excluding tuberculosis and leprosy) disease_ontology DOID:412 obsolete atypical Mycobacterium infectious disease true DOID:412 A Flavivirus infectious disease that results_in infection in animals and humans, has_material_basis_in West Nile virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom nausea, has_symptom vomiting, has_symptom swollen lymph glands, or has_symptom skin rash on the chest, stomach and back. disease_ontology DOID:4121 obsolete West Nile virus infectious disease true DOID:4121 A Flavivirus infectious disease that results_in infection in animals and humans, has_material_basis_in West Nile virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom nausea, has_symptom vomiting, has_symptom swollen lymph glands, or has_symptom skin rash on the chest, stomach and back. url:http://en.wikipedia.org/wiki/West_Nile_virus url:http://www.cdc.gov/ncidod/dvbid/westnile/wnv_factsheet.htm An integumentary system disease that is located_in nail. ICD10CM:L60 ICD9CM:703 MESH:D009260 SNOMEDCT_US_2023_03_01:17790008 UMLS_CUI:C0027339 disease_ontology DOID:4123 nail disease DOID:4123 An integumentary system disease that is located_in nail. url:http://en.wikipedia.org/wiki/Nail_disease A tuberculosis that is a chronic and progressive wasting and weakness caused by infection of companion, captive exotic, wild and domestic birds with Mycobacterium avium complex (serotypes 1, 2 and 3) and M. genavense. Avian tuberculosis (disorder) Infection due to Mycobacterium avium (disorder) disease_ontology DOID:413 obsolete avian tuberculosis true DOID:413 A tuberculosis that is a chronic and progressive wasting and weakness caused by infection of companion, captive exotic, wild and domestic birds with Mycobacterium avium complex (serotypes 1, 2 and 3) and M. genavense. url:http://www.oie.int/fr/normes/mmanual/2008/pdf/2.03.06_AVIAN_TB.pdf A pyoderma that is characterized by brown, scaly skin patches that are generalized or iterdigital (between the toes or fingers) and is caused by infection with corynebacterium minutissimum. ICD10CM:L08.1 MESH:D004894 SNOMEDCT_US_2023_03_01:266185008 UMLS_CUI:C0014752 Infection due to Corynebacterium minutissimum disease_ontology DOID:4131 erythrasma DOID:4131 A pyoderma that is characterized by brown, scaly skin patches that are generalized or iterdigital (between the toes or fingers) and is caused by infection with corynebacterium minutissimum. url:https://en.wikipedia.org/wiki/Erythrasma url:https://www.ncbi.nlm.nih.gov/pubmed/30020724 ICDO:8840/3 MESH:D009236 NCI:C3255 SNOMEDCT_US_2023_03_01:28351005 UMLS_CUI:C0027155 disease_ontology DOID:4136 myxosarcoma DOID:4136 A bile duct disease that is located_in the common bile duct. MESH:D003137 UMLS_CUI:C0009440 disease_ontology DOID:4137 common bile duct disease DOID:4137 A bile duct disease that is located_in the common bile duct. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/common-bile-duct A biliary tract disease located_in one or more bile ducts. MESH:D001649 NCI:C96716 SNOMEDCT_US_2023_03_01:118926004 UMLS_CUI:C0005395 bile duct disorder disorder of bile duct disease_ontology DOID:4138 bile duct disease DOID:4138 A biliary tract disease located_in one or more bile ducts. url:https://medlineplus.gov/bileductdiseases.html url:https://www.health.harvard.edu/a_to_z/bile-duct-diseases-a-to-z url:https://www.nyp.org/cadc/liver-diseases-and-transplantation/bile-duct-disorders disease_ontology DOID:414 obsolete cardiovascular tuberculosis true DOID:414 A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree. DOID:4139 MESH:D001657 SNOMEDCT_US_2023_03_01:43469007 UMLS_CUI:C0005416 sphincter of oddi dysfunction disease_ontology DOID:4140 biliary dyskinesia DOID:4140 A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree. url:http://en.wikipedia.org/wiki/Biliary_dyskinesia A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance. MESH:D008579 NCI:C6778 UMLS_CUI:C1334261 disease_ontology DOID:4141 intraorbital meningioma DOID:4141 A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance. url:http://www.mayfieldclinic.com/pe-meni.htm disease_ontology DOID:4142 obsolete meningioma by site true DOID:4142 A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis. DOID:9984 ICD10CM:C69.6 ICD9CM:190.1 MESH:D009918 NCI:C3290 NCI:C3562 SNOMEDCT_US_2023_03_01:127003006 SNOMEDCT_US_2023_03_01:363462005 UMLS_CUI:C0029185 UMLS_CUI:C0153626 malignant neoplasm of orbit neoplasm of orbit proper orbit cancer orbital tumor disease_ontology DOID:4143 orbital cancer DOID:4143 A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis. url:https://www.ncbi.nlm.nih.gov/books/NBK13668/ Herpes zoster dermatitis (disorder) disease_ontology DOID:4144 obsolete herpes zoster dermatitis true DOID:4144 NCI:C36207 UMLS_CUI:C0948101 GI adenoma disease_ontology DOID:4147 gastrointestinal adenoma DOID:4147 NCI:C27721 UMLS_CUI:C1333799 disease_ontology DOID:4148 gastrointestinal neuroendocrine benign tumor DOID:4148 A chordoma that is located_in the skull base. NCI:C5453 UMLS_CUI:C1335975 Chordoma of the Skull Base disease_ontology DOID:4151 skull base chordoma DOID:4151 A chordoma that is located_in the skull base. url:https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=134&ContentID=85 A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma. ICDO:9371/3 NCI:C6902 SNOMEDCT_US_2023_03_01:128784007 UMLS_CUI:C1266173 disease_ontology DOID:4152 chondroid chordoma DOID:4152 A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma. url:http://www.ajnr.org/ajnr-case-collections-diagnosis/chondroid-chordoma url:https://my.clevelandclinic.org/health/diseases/17916-chordoma url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263615/ A chordoma that derives_from the spine. NCI:C5156 Chordoma of Spine disease_ontology DOID:4153 spinal chordoma DOID:4153 A chordoma that derives_from the spine. url:http://www.hopkinsmedicine.org/neurology_neurosurgery/conditions_main/chordoma.html A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22. GARD:6258 ICD10CM:K00.5 MESH:D003811 MIM:125490 MIM:125500 NCI:C84667 ORDO:49042 SNOMEDCT_US_2023_03_01:367461002 UMLS_CUI:C0011436 disease_ontology DOID:4154 OMIM mapping confirmed by DO. [SN]. dentinogenesis imperfecta DOID:4154 A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22. url:https://pubmed.ncbi.nlm.nih.gov/19021896/ A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes. ICD9CM:091 SNOMEDCT_US_2023_03_01:186846005 UMLS_CUI:C0153139 Symptomatic early syphilis early symptomatic syphilis early syphilis, symptomatic disease_ontology DOID:4156 primary syphilis DOID:4156 A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes. url:https://www.merriam-webster.com/dictionary/primary%20syphilis#medicalDictionary A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks. DOID:12122 ICD9CM:091.9 MESH:C536773 NCI:C128413 SNOMEDCT_US_2023_03_01:154382002 UMLS_CUI:C0149985 secondary syphilis of viscera or bone disease_ontology DOID:4157 secondary syphilis DOID:4157 A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks. url:https://www.merriam-webster.com/dictionary/secondary%20syphilis#medicalDictionary An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. GARD:10421 MESH:D012878 NCI:C2920 SNOMEDCT_US_2023_03_01:94047004 UMLS_CUI:C0007114 CA - skin cancer malignant neoplasm of skin melanoma and Non-melanoma skin cancer disease_ontology cancer of skin DOID:4159 skin cancer DOID:4159 An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. url:https://medlineplus.gov/skincancer.html url:https://www.genome.gov/Genetic-Disorders/Skin-Cancer NCI:C42048 UMLS_CUI:C1511934 disease_ontology DOID:4160 differentiating neuroblastoma DOID:4160 disease_ontology DOID:4161 obsolete relapsed neuroblastoma true DOID:4161 ICDO:9490/3 MESH:D018305 NCI:C3790 SNOMEDCT_US_2023_03_01:116381000119105 UMLS_CUI:C0206718 disease_ontology DOID:4163 ganglioneuroblastoma DOID:4163 A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells. NCI:C4826 SNOMEDCT_US_2023_03_01:281560004 UMLS_CUI:C0559458 neuroblastoma of Cerebrum neuroblastoma of brain neuroblastoma of the cerebral hemisphere disease_ontology DOID:4164 cerebral neuroblastoma DOID:4164 A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells. url:https://en.wikipedia.org/wiki/Neuroblastoma url:https://www.ncbi.nlm.nih.gov/pubmed/6886755 disease_ontology DOID:4165 obsolete regional neuroblastoma true DOID:4165 A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years. DOID:11095 ICD10CM:A51.0 MESH:D002601 SNOMEDCT_US_2023_03_01:736686006 UMLS_CUI:C0007939 syphilitic chancre disease_ontology DOID:4166 syphilis DOID:4166 A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years. url:http://en.wikipedia.org/wiki/Syphilis url:https://www.merriam-webster.com/dictionary/syphilis#medicalDictionary An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. autoimmune disease ICD9CM:720 MIM:109100 UMLS_CUI:C0003089 autoimmune hypersensitivity disease hypersensitivity reaction type II disease disease_ontology DOID:417 Xref MGI. autoimmune disease DOID:417 An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. url:http://en.wikipedia.org/wiki/Autoimmune_disease ls:IEDB disease_ontology DOID:4170 obsolete localized resectable neuroblastoma true DOID:4170 disease_ontology DOID:4172 obsolete localized unresectable neuroblastoma true DOID:4172 metastatic neuroblastoma disease_ontology DOID:4173 obsolete disseminated neuroblastoma true DOID:4173 MESH:D012203 NCI:C113150 SNOMEDCT_US_2023_03_01:199580004 UMLS_CUI:C0035404 Rh incompatibility affecting management of mother disease_ontology DOID:4175 Rh isoimmunization DOID:4175 MESH:D001787 UMLS_CUI:C0005806 disease_ontology DOID:4176 blood group incompatibility DOID:4176 A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. EFO:0000717 GARD:9748 ICD10CM:M34.0 ICD9CM:710.1 MESH:D012595 MIM:181750 NCI:C72070 SNOMEDCT_US_2023_03_01:89155008 UMLS_CUI:C0036421 Scleroderma Scleroderma syndrome progressive systemic sclerosis systemic sclerosis disease_ontology DOID:418 systemic scleroderma DOID:418 A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. url:https://ghr.nlm.nih.gov/condition/systemic-scleroderma sn:IEDB A pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the paternal allele. This results in expression of the Gs-alpha protein only from the maternal allele. GARD:7860 MESH:D011556 MIM:612463 NCI:C129722 SNOMEDCT_US_2023_03_01:190867002 UMLS_CUI:C0033835 Normocalcemic pseudohypoparathyroidism PPHP disease_ontology DOID:4183 pseudopseudohypoparathyroidism DOID:4183 A pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the paternal allele. This results in expression of the Gs-alpha protein only from the maternal allele. url:https://pubmed.ncbi.nlm.nih.gov/17161328/ PPHP A metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albright’s hereditary osteodystrophy, which include shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, and rounded face. GARD:10758 ICD10CM:E20.1 MESH:D011547 NCI:C99027 SNOMEDCT_US_2023_03_01:190867002 UMLS_CUI:C0033806 PHP disease_ontology DOID:4184 pseudohypoparathyroidism MESH:D011547 DOID:4184 A metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albright’s hereditary osteodystrophy, which include shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, and rounded face. url:https://pubmed.ncbi.nlm.nih.gov/27401862/ url:https://www.chop.edu/conditions-diseases/pseudohypoparathyroidism-php url:https://www.ncbi.nlm.nih.gov/books/NBK279165/ url:https://www.ncbi.nlm.nih.gov/sites/books/NBK559141/ PHP A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand. MESH:D001184 SNOMEDCT_US_2023_03_01:8187005 UMLS_CUI:C0003910 Articulation impairment Phonological disorder disease_ontology DOID:4186 articulation disorder DOID:4186 A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand. url:https://www.stanfordchildrens.org/en/topic/default?id=speech-sound-disorders-in-children-160-236 A speech disorder that involves the automatic repetition of vocalizations made by another person. MESH:D004454 NCI:C97166 SNOMEDCT_US_2023_03_01:64712007 UMLS_CUI:C0013528 disease_ontology DOID:4188 echolalia DOID:4188 A speech disorder that involves the automatic repetition of vocalizations made by another person. url:http://en.wikipedia.org/wiki/Echolalia A speech disorder that involves a complete inability to speak. MESH:D009155 SNOMEDCT_US_2023_03_01:267771000 UMLS_CUI:C0026884 disease_ontology DOID:4189 mutism DOID:4189 A speech disorder that involves a complete inability to speak. url:http://en.wikipedia.org/wiki/Mutism url:http://en.wikipedia.org/wiki/Speech_disorder A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. MESH:D012594 NCI:C26746 SNOMEDCT_US_2023_03_01:201440007 UMLS_CUI:C0011644 dermatosclerosis disease_ontology DOID:419 scleroderma DOID:419 A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. url:http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp url:https://scleroderma.org/ DOID:12751 ICD9CM:434.0 MESH:D020767 SNOMEDCT_US_2023_03_01:155401002 UMLS_CUI:C0079102 UMLS_CUI:C0752143 cerebral thrombosis disease_ontology DOID:4193 intracranial thrombosis DOID:4193 A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range. MESH:D044882 NCI:C53655 SNOMEDCT_US_2023_03_01:126877002 UMLS_CUI:C1257958 disorder of glucose metabolism disease_ontology DOID:4194 glucose metabolism disease DOID:4194 A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range. url:https://empendium.com/mcmtextbook/chapter/B31.II.24.11. url:https://pubmed.ncbi.nlm.nih.gov/39067965/ ICD10CM:R73.9 MESH:D006943 NCI:C26797 SNOMEDCT_US_2023_03_01:144187006 UMLS_CUI:C0020456 disease_ontology DOID:4195 hyperglycemia DOID:4195 A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve. ICD10CM:G57.2 MESH:D020428 NCI:C27595 SNOMEDCT_US_2023_03_01:25690000 UMLS_CUI:C0751931 Femoral nerve lesions femoral nerve dysfunction disease_ontology DOID:4196 femoral neuropathy DOID:4196 A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve. url:https://medlineplus.gov/ency/article/000687.htm A hair disease characterized by hair growth that is abnormal in quantity or location. ICD10CM:L68 MESH:D006983 NCI:C79597 ORDO:79365 SNOMEDCT_US_2023_03_01:201164001 UMLS_CUI:C0020555 disease_ontology DOID:420 hypertrichosis DOID:420 A hair disease characterized by hair growth that is abnormal in quantity or location. url:https://www.ncbi.nlm.nih.gov/pubmed/18328202 disease_ontology DOID:4200 obsolete commensal Bifidobacteriales infectious disease true DOID:4200 MESH:D020427 NCI:C27596 UMLS_CUI:C0747533 disease_ontology DOID:4201 peroneal neuropathy DOID:4201 A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells. NCI:C8501 SNOMEDCT_US_2023_03_01:444545003 UMLS_CUI:C0677865 Brainstem Neuroglial tumor disease_ontology DOID:4202 brain stem glioma DOID:4202 A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells. url:https://en.wikipedia.org/wiki/Brainstem_glioma DOID:13974 DOID:4204 DOID:4208 GARD:8244 ICD10CM:C71.7 ICD9CM:191.7 MESH:D020295 NCI:C3570 NCI:C4869 NCI:C4975 NCI:C5967 SNOMEDCT_US_2023_03_01:126961004 SNOMEDCT_US_2023_03_01:93726004 UMLS_CUI:C0153641 UMLS_CUI:C0677866 UMLS_CUI:C0751886 UMLS_CUI:C1332192 malignant neoplasm of brain stem malignant neoplasm of brainstem neoplasm of adult brain stem neoplasm of brain stem primary brain Stem tumor primary brain stem neoplasm disease_ontology DOID:4203 brain stem cancer DOID:4203 DOID:12786 ICD10CM:C71.6 ICD9CM:191.6 MESH:D002528 NCI:C2935 NCI:C3569 SNOMEDCT_US_2023_03_01:126960003 SNOMEDCT_US_2023_03_01:449420002 UMLS_CUI:C0007762 UMLS_CUI:C0153640 cerebellar cancer malignant tumor of Cerebellum disease_ontology DOID:4205 cerebellum cancer DOID:4205 A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells. NCI:C5969 UMLS_CUI:C1332951 pediatric tumor of Brainstem disease_ontology DOID:4206 childhood brain stem neoplasm DOID:4206 A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5969 A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells. NCI:C5802 UMLS_CUI:C1332973 pediatric Infratentorial tumor disease_ontology DOID:4207 childhood infratentorial neoplasm DOID:4207 A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5802 NCI:C5295 UMLS_CUI:C1332612 Intraparenchymal Clear cell meningioma of the Brainstem disease_ontology DOID:4209 brainstem intraparenchymal clear cell meningioma DOID:4209 An integumentary system disease that is located_in hair. MESH:D006201 NCI:C34656 SNOMEDCT_US_2023_03_01:267862002 UMLS_CUI:C0018500 disease_ontology DOID:421 hair disease DOID:421 An integumentary system disease that is located_in hair. url:http://en.wikipedia.org/wiki/Hair_disease ICDO:9538/1 MESH:D008579 NCI:C4722 SNOMEDCT_US_2023_03_01:134213009 UMLS_CUI:C0431121 disease_ontology DOID:4210 clear cell meningioma DOID:4210 A meningioma that affects the posterior cranial fossa. MESH:D008579 NCI:C6775 UMLS_CUI:C1565950 meningioma of the Posterior Cranial Fossa posterior cranial fossa meningioma disease_ontology DOID:4211 posterior fossa meningioma DOID:4211 A meningioma that affects the posterior cranial fossa. url:https://pubmed.ncbi.nlm.nih.gov/33814376/ A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary. MESH:D001948 NCI:C4270 SNOMEDCT_US_2023_03_01:42194009 UMLS_CUI:C0334495 disease_ontology DOID:4217 malignant ovarian Brenner tumor DOID:4217 A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40026 A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills. MESH:D020914 NCI:C84648 UMLS_CUI:C0752282 disease_ontology DOID:422 congenital structural myopathy DOID:422 A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills. url:https://pubmed.ncbi.nlm.nih.gov/23897157/ A dermatitis that is characterized by a pyogenic infection causing the formation of pus. ICD10CM:L08.0 ICD9CM:686.0 MESH:D011711 SNOMEDCT_US_2023_03_01:267838007 UMLS_CUI:C0034212 disease_ontology DOID:4223 pyoderma DOID:4223 A dermatitis that is characterized by a pyogenic infection causing the formation of pus. url:http://en.wikipedia.org/wiki/Pyoderma url:http://en.wikipedia.org/wiki/Pyogenic A sarcoma that affects adults and is located_in the muscle, located_in fat, located_in fibrous tissue, located_in blood vessels, or located_in other supporting tissue of the body. adult sarcoma of the soft tissue disease_ontology DOID:4224 obsolete adult soft tissue sarcoma true DOID:4224 A sarcoma that affects adults and is located_in the muscle, located_in fat, located_in fibrous tissue, located_in blood vessels, or located_in other supporting tissue of the body. url:http://www.cancer.gov/cancertopics/types/soft-tissue-sarcoma An endometrial stromal tumor that has_material_basis_in connective tissue. GARD:6339 ICDO:8930/3 MESH:D018203 NCI:C8973 SNOMEDCT_US_2023_03_01:1178986006 UMLS_CUI:C0206630 ESS Undifferentiated endometrial sarcoma endometrial stromal sarcoma, high grade disease_ontology DOID:4226 endometrial stromal sarcoma DOID:4226 An endometrial stromal tumor that has_material_basis_in connective tissue. url:https://en.wikipedia.org/wiki/Endometrial_stromal_sarcoma ESS A uterine corpus sarcoma that has_material_basis_in the connective tissue of the uterine lining. DOID:1374 NCI:C40219 UMLS_CUI:C1519849 uterine corpus endometrial stromal tumor disease_ontology DOID:4227 uterine corpus endometrial stromal sarcoma DOID:4227 A uterine corpus sarcoma that has_material_basis_in the connective tissue of the uterine lining. url:https://www.cancer.org/cancer/uterine-sarcoma/about/what-is-uterine-sarcoma.html url:https://www.ncbi.nlm.nih.gov/pubmed/21652246 Stromal sarcoma Stromal sarcoma (morphologic abnormality) disease_ontology DOID:4228 obsolete stromal sarcoma true DOID:4228 A muscular disease in which the muscle fibers do not function resulting in muscular weakness. ICD10CM:G72.9 ICD9CM:359.9 MESH:D009135 NCI:C101216 SNOMEDCT_US_2023_03_01:155094005 UMLS_CUI:C0026848 disease_ontology DOID:423 myopathy DOID:423 A muscular disease in which the muscle fibers do not function resulting in muscular weakness. url:http://en.wikipedia.org/wiki/Myopathy NCI:C6511 UMLS_CUI:C1334620 malignant tumor of Smooth Muscle disease_ontology DOID:4230 smooth muscle cancer DOID:4230 ICDO:8831/0 MESH:D051642 NCI:C35765 SNOMEDCT_US_2023_03_01:154614002 UMLS_CUI:C1509147 disease_ontology DOID:4231 histiocytoma DOID:4231 A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations. NCI:C27293 ORDO:370334 UMLS_CUI:C1333514 extraosseous Ewing's sarcoma extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor extraskeletal Ewing sarcom disease_ontology DOID:4232 extraosseous Ewing sarcoma DOID:4232 A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27293 A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated. DOID:4881 ICDO:9044/3 MESH:D018227 NCI:C27370 NCI:C3745 SNOMEDCT_US_2023_03_01:12622007 UMLS_CUI:C0206651 UMLS_CUI:C1332198 Clear cell sarcoma of soft Parts adult soft part clear cell sarcoma malignant melanoma of soft tissues melanoma, malignant, of soft parts disease_ontology malignant melanoma of soft parts DOID:4233 clear cell sarcoma DOID:4233 A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated. url:http://en.wikipedia.org/wiki/Clear-cell_sarcoma A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy. ICDO:8801/3 MESH:D012509 NCI:C27005 SNOMEDCT_US_2023_03_01:9801004 UMLS_CUI:C0205945 disease_ontology DOID:4235 spindle cell sarcoma DOID:4235 A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy. url:http://medical-dictionary.thefreedictionary.com/spindle+cell+sarcoma A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. DOID:1971 DOID:2610 DOID:4234 ICDO:8980/3 MESH:D002296 MESH:D018199 MESH:D018200 NCI:C34448 NCI:C3730 NCI:C8975 SNOMEDCT_US_2023_03_01:112684005 SNOMEDCT_US_2023_03_01:63264007 SNOMEDCT_US_2023_03_01:84427001 UMLS_CUI:C0007140 UMLS_CUI:C0206627 UMLS_CUI:C1334603 MMMT malignant mixed Mullerian tumor malignant mixed mesodermal (mullerian) tumor mesodermal mixed tumor mixed Mesodermal (mullerian) tumor mullerian mixed tumor disease_ontology DOID:4236 carcinosarcoma DOID:4236 A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. url:http://en.wikipedia.org/wiki/Mixed_M%C3%BCllerian_tumor url:http://www.cancer.gov/Common/PopUps/popDefinition.aspx?id=44003&version=Patient&language=English url:http://www.cancer.gov/dictionary/?CdrID=44003 MMMT malignant soft tissue tumor of CNS disease_ontology DOID:4238 obsolete malignant soft tissue neoplasm of central nervous system true DOID:4238 A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults. DOID:5315 DOID:5318 GARD:5654 ICDO:9581/3 MESH:D018234 MIM:606243 NCI:C3750 NCI:C7943 NCI:C8092 ORDO:163699 SNOMEDCT_US_2023_03_01:88195001 UMLS_CUI:C0206657 UMLS_CUI:C0279544 UMLS_CUI:C0279985 disease_ontology DOID:4239 OMIM mapping confirmed by DO. [SN]. alveolar soft part sarcoma DOID:4239 A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults. url:http://en.wikipedia.org/wiki/Alveolar_soft_part_sarcoma A lung disease that is characterized by pulmonary collapse, accompanied by hypoventilation which can affect a lobe, segment, or all of the lung, resulting in a decrease in the ventilation/perfusion ratio. ICD10CM:P28.0 ICD9CM:770.4 SNOMEDCT_US_2023_03_01:42908004 UMLS_CUI:C0270163 primary atelectasis of newborn primary atelectasis, in perinatal period disease_ontology DOID:424 pulmonary immaturity DOID:424 A lung disease that is characterized by pulmonary collapse, accompanied by hypoventilation which can affect a lobe, segment, or all of the lung, resulting in a decrease in the ventilation/perfusion ratio. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846321/ disease_ontology DOID:4240 obsolete malignant miscellaneous mesenchymal tumor true DOID:4240 A kidney cancer that is located in the kidney's connective tissue. NCI:C4525 SNOMEDCT_US_2023_03_01:254918001 UMLS_CUI:C0346251 renal sarcoma sarcoma of kidney disease_ontology DOID:4242 kidney sarcoma DOID:4242 A kidney cancer that is located in the kidney's connective tissue. url:https://www.cancer.org/cancer/types/kidney-cancer/about/what-is-kidney-cancer.html disease_ontology DOID:4245 obsolete extraskeletal cartilaginous and osseous tumor true DOID:4245 malignant soft tissue tumor of mediastinum disease_ontology DOID:4246 obsolete malignant mediastinal mesenchymal tumor true DOID:4246 MESH:D023903 UMLS_CUI:C0948480 disease_ontology DOID:4247 coronary restenosis DOID:4247 MESH:D023921 NCI:C80427 SNOMEDCT_US_2023_03_01:233970002 UMLS_CUI:C0242231 Coronary artery stenosis disease_ontology DOID:4248 coronary stenosis DOID:4248 A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. GARD:7690 ICD10CM:A81.82 ICD9CM:046.71 MESH:D016098 MIM:137440 NCI:C84727 SNOMEDCT_US_2023_03_01:67155006 UMLS_CUI:C0017495 Gerstmann-Straussler-Scheinker disease PRION DEMENTIA disease_ontology DOID:4249 OMIM mapping confirmed by DO. [SN]. Gerstmann-Straussler-Scheinker syndrome DOID:4249 A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. url:http://en.wikipedia.org/wiki/Gerstmann-Str%C3%A4ussler-Scheinker_syndrome url:http://en.wikipedia.org/wiki/Gerstmann-straussler-scheinker_disease url:http://www.cdc.gov/ncidod/dvrd/prions/ disease_ontology DOID:425 obsolete certain conditions originating in the perinatal period true DOID:425 ICD10CM:H11.82 ICD9CM:372.81 SNOMEDCT_US_2023_03_01:408663001 UMLS_CUI:C0878693 disease_ontology DOID:4250 conjunctivochalasis DOID:4250 An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids. ICD10CM:H11.9 ICD9CM:372.9 MESH:D003229 NCI:C27605 SNOMEDCT_US_2023_03_01:194583004 UMLS_CUI:C0009759 disease_ontology DOID:4251 conjunctival disease DOID:4251 An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27605 A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. GARD:5774 MESH:D038261 MIM:203450 NCI:C84545 SNOMEDCT_US_2023_03_01:81854007 UMLS_CUI:C0270726 Alexander's disease disease_ontology DOID:4252 OMIM mapping confirmed by DO. [SN]. Alexander disease MESH:D038261 DOID:4252 A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. url:http://en.wikipedia.org/wiki/Alexander_disease url:http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm url:http://www.omim.org/entry/203450 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. GARD:9474 MESH:D008557 MIM:155950 NCI:C84887 SNOMEDCT_US_2023_03_01:240173003 UMLS_CUI:C0025239 disease_ontology DOID:4253 OMIM mapping confirmed by DO. [SN]. melorheostosis MESH:D008557 DOID:4253 An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. url:http://en.wikipedia.org/wiki/Melorheostosis url:http://www.melorheostosis.com/ A bone remodeling disease that results_in abnormal elevated bone density or mass. ICD10CM:Q78.2 MESH:D010026 NCI:C41236 SNOMEDCT_US_2023_03_01:49347007 UMLS_CUI:C0029464 disease_ontology DOID:4254 osteosclerosis DOID:4254 A bone remodeling disease that results_in abnormal elevated bone density or mass. url:http://en.wikipedia.org/wiki/Osteosclerosis disease_ontology DOID:4256 obsolete rheumatism true DOID:4256 A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability. GARD:1051 ICD10CM:M89.8 MESH:D006958 MIM:114000 NCI:C84645 SNOMEDCT_US_2023_03_01:24752008 UMLS_CUI:C0020497 cortical congenital hyperostosis infantile cortical hyperostosis disease_ontology DOID:4257 OMIM mapping confirmed by DO. [SN]. Caffey disease DOID:4257 A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability. url:http://en.wikipedia.org/wiki/Infantile_cortical_hyperostosis An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities. ICD10CM:Q87.0 MESH:D010855 MIM:261800 NCI:C85010 SNOMEDCT_US_2023_03_01:156908005 UMLS_CUI:C0031900 Piere-Robin syndrome Pierre Robin Malformation disease_ontology DOID:4258 Weissenbacher-Zweymuller syndrome DOID:4258 An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities. url:http://en.wikipedia.org/wiki/Weissenbacher-Zweym%C3%BCller_syndrome url:http://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome MESH:D020235 SNOMEDCT_US_2023_03_01:30767006 UMLS_CUI:C1510417 disease_ontology DOID:4260 gait apraxia MESH:D020235 DOID:4260 Drug-induced akathisia (disorder) disease_ontology DOID:4263 obsolete drug-induced akathisia true DOID:4263 A leiomyoma that is located_in the blood vessels. MESH:D018229 NCI:C3747 SNOMEDCT_US_2023_03_01:86959002 UMLS_CUI:C0206653 vascular leiomyoma disease_ontology DOID:4265 angiomyoma MESH:D018229 DOID:4265 A leiomyoma that is located_in the blood vessels. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4202094/ NCI:C5355 UMLS_CUI:C1334267 disease_ontology DOID:4266 intravascular angioleiomyoma DOID:4266 A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness. MESH:D000405 SNOMEDCT_US_2023_03_01:53333005 UMLS_CUI:C0001889 Coma vigilans disease_ontology DOID:4267 akinetic mutism MESH:D000405 DOID:4267 A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness. url:http://en.wikipedia.org/wiki/Akinetic_mutism url:https://www.ncbi.nlm.nih.gov/pubmed/14642361 A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem. MESH:D016890 SNOMEDCT_US_2023_03_01:12825006 UMLS_CUI:C0085412 Infection by Encephalitozoon disease_ontology DOID:4270 encephalitozoonosis DOID:4270 A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem. url:https://pubmed.ncbi.nlm.nih.gov/35202528/ An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members. GARD:3655 ICD10CM:B60.8 MESH:D016881 NCI:C84891 SNOMEDCT_US_2023_03_01:61842000 UMLS_CUI:C0085407 Infection by Microspora Infection by Microsporea Infection by Microsporida disease_ontology DOID:4271 microsporidiosis DOID:4271 An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members. url:http://www.dpd.cdc.gov/dpdx/HTML/Microsporidiosis.htm A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine viral diarrhea virus 2, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom low grade fever, has_symptom bloody diarrhea, and has_symptom bleeding in the eyes. disease_ontology DOID:4273 obsolete bovine hemorrhagic syndrome true DOID:4273 A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine viral diarrhea virus 2, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom low grade fever, has_symptom bloody diarrhea, and has_symptom bleeding in the eyes. url:http://www.vetmed.ucdavis.edu/vetext/INF-DA/INF-DA_BVDV.HTML A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder. disease_ontology DOID:4274 obsolete Pestivirus infectious disease true DOID:4274 A viral infectious disease that results_in infection in mammals, has_material_basis_in Pestivirus, which is transmitted_by contact with nasal secretions of an infected animal. The infection has_symptom diarrhea, has_symptom respiratory problems, and has_symptom bleeding disorder. url:http://en.wikipedia.org/wiki/Pestivirus A basal cell carcinoma that is located_in the penis. NCI:C39961 UMLS_CUI:C1518949 disease_ontology basal cell carcinoma of the penis DOID:4277 penis basal cell carcinoma DOID:4277 A basal cell carcinoma that is located_in the penis. url:https://www.cancer.org/cancer/penile-cancer/about/what-is-penile-cancer.html NCI:C6386 UMLS_CUI:C1335934 Basal cell carcinoma of scrotum disease_ontology basal cell carcinoma of the scrotum DOID:4278 scrotum basal cell carcinoma DOID:4278 A variant of basal cell carcinoma characterized by follicular differentiation. MIM:604451 skin infundibulocystic basal cell carcinoma disease_ontology DOID:4279 Xref MGI. infundibulocystic basal cell carcinoma DOID:4279 A variant of basal cell carcinoma characterized by follicular differentiation. url:https://www.dermnetnz.org/topics/basal-cell-carcinoma-pathology/ url:https://www.ncbi.nlm.nih.gov/pubmed/2235986 A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery. DOID:4296 NCI:C62282 SNOMEDCT_US_2023_03_01:716274007 UMLS_CUI:C1304300 Basal cell carcinoma, nodular Circumscribed solid basal cell carcinoma skin nodulo-ulcerative basal cell carcinoma skin solid (nodular) Basal cell carcinoma disease_ontology DOID:4280 nodular basal cell carcinoma DOID:4280 A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573444/ A basal cell carcinoma characterized by intermediate typology between basal cell carcinoma and squamous cell carcinoma. Basosquamous carcinoma of skin skin Metatypical carcinoma skin metatypical basal cell carcinoma disease_ontology DOID:4281 metatypical basal cell carcinoma DOID:4281 A basal cell carcinoma characterized by intermediate typology between basal cell carcinoma and squamous cell carcinoma. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2585560/ A basal cell carcinoma characterized by brown or black pigmentation. skin pigmented basal cell carcinoma disease_ontology DOID:4282 pigmented basal cell carcinoma DOID:4282 A basal cell carcinoma characterized by brown or black pigmentation. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919288/ A basal cell carcinoma that is located_in the anal margin. ICD10CM:C44.510 NCI:C7473 UMLS_CUI:C1332269 Basal cell carcinoma of Perianal skin disease_ontology basal cell carcinoma of anal margin DOID:4283 anal margin basal cell carcinoma DOID:4283 A basal cell carcinoma that is located_in the anal margin. url:https://www.cancer.org/cancer/anal-cancer/about/what-is-anal-cancer.html An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus). NCI:C7472 SNOMEDCT_US_2023_03_01:255084004 UMLS_CUI:C0349534 Perianal skin carcinoma disease_ontology carcinoma of anal margin DOID:4284 anal margin carcinoma DOID:4284 An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus). url:https://pubmed.ncbi.nlm.nih.gov/20436838/ disease_ontology DOID:4285 obsolete complications of pregnancy, childbirth and the puerperium true DOID:4285 A basal cell carcinoma that is characterized by sebaceous differentiation and located in the skin. NCI:C4346 sebaceous basal cell carcinoma skin basosebaceous basal cell carcinoma disease_ontology DOID:4286 skin nasal cell carcinoma with sebaceous differentiation DOID:4286 A basal cell carcinoma that is characterized by sebaceous differentiation and located in the skin. url:https://journals.lww.com/prsgo/fulltext/2020/12000/basal_cell_carcinoma_with_sebaceous.50.aspx NCI:C6082 UMLS_CUI:C1333491 Basal cell carcinoma of the External ear disease_ontology basal cell carcinoma of external ear DOID:4287 external ear basal cell carcinoma DOID:4287 An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C6081 UMLS_CUI:C1333492 carcinoma of the External ear disease_ontology carcinoma of external ear DOID:4288 external ear carcinoma DOID:4288 An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A basal cell carcinoma characterized by solid tumor nodules. skin micronodular basal cell carcinoma disease_ontology DOID:4289 micronodular basal cell carcinoma DOID:4289 A basal cell carcinoma characterized by solid tumor nodules. url:https://www.dermnetnz.org/topics/basal-cell-carcinoma-pathology/ A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina. MESH:D006175 NCI:C84743 UMLS_CUI:C0018414 disease_ontology DOID:429 gynatresia DOID:429 A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina. url:https://fertilitypedia.org/edu/diagnoses/gynatresia url:https://www.ncbi.nlm.nih.gov/pubmed/22717415 NCI:C7585 SNOMEDCT_US_2023_03_01:402524007 UMLS_CUI:C1304295 Basal cell carcinoma - adamantinoid Melanotic adamantinoma of skin skin adamantinoid basal cell epithelioma disease_ontology DOID:4290 adamantinoid basal cell epithelioma DOID:4290 NCI:C4109 SNOMEDCT_US_2023_03_01:254703005 UMLS_CUI:C0346013 Fibroepithelioma of Pinkus Fibroepithelioma of Pinkus type Pinkus tumor disease_ontology DOID:4291 fibroepithelial basal cell carcinoma DOID:4291 NCI:C27182 SNOMEDCT_US_2023_03_01:403913006 UMLS_CUI:C0555191 Basal cell carcinoma, morphea Cicatricial basal-cell carcinoma Morphea-type (Sclerosing) Basal cell carcinoma disease_ontology DOID:4292 morpheaform basal cell carcinoma DOID:4292 NCI:C27536 UMLS_CUI:C1516599 skin clear cell basal cell carcinoma disease_ontology DOID:4293 clear cell basal cell carcinoma DOID:4293 A basal cell carcinoma that is characterized by the presence of thin strands of basaloid cells forming a reticulate pattern. NCI:C27535 skin adenoid basal cell carcinoma disease_ontology DOID:4294 adenoid basal cell carcinoma DOID:4294 A basal cell carcinoma that is characterized by the presence of thin strands of basaloid cells forming a reticulate pattern. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC4840735/ A basal cell carcinoma that is characterized by follicular differentiation. NCI:C27538 Skin Follicular Basal Cell Carcinoma follicular (pilar) basal cell carcinoma disease_ontology DOID:4295 follicular basal cell carcinoma DOID:4295 A basal cell carcinoma that is characterized by follicular differentiation. url:https://link.springer.com/chapter/10.1007/978-3-319-45704-8_57 A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung. ICD10CM:Q26.8 MESH:D012587 MIM:106700 NCI:C85056 ORDO:185 SNOMEDCT_US_2023_03_01:39905002 UMLS_CUI:C0036400 Halasz syndrome congenital venolobar syndrome hypogenetic lung syndrome mirror-image lung syndrome pulmonary venolobar syndrome total anomalous pulmonary venous return vena cava bronchovascular syndrome disease_ontology DOID:4297 scimitar syndrome DOID:4297 A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung. url:https://en.wikipedia.org/wiki/Scimitar_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/31536209 disease_ontology DOID:4298 obsolete respiratory system abnormality true DOID:4298 A basal cell carcinoma that is characterized by the formation of thin, small clusters in an infiltrative growth pattern. skin infiltrating basal cell carcinoma disease_ontology DOID:4299 infiltrative basal cell carcinoma DOID:4299 A basal cell carcinoma that is characterized by the formation of thin, small clusters in an infiltrative growth pattern. url:https://pubmed.ncbi.nlm.nih.gov/30710602/ ICDO:8091/3 NCI:C4108 SNOMEDCT_US_2023_03_01:61098004 UMLS_CUI:C0334256 Multifocal superficial basal cell carcinoma Superficial multicentric basal-cell carcinoma multicentric basal cell carcinoma disease_ontology DOID:4300 superficial basal cell carcinoma DOID:4300 A vulva carcinoma that has_material_basis_in basal cells. NCI:C6381 SNOMEDCT_US_2023_03_01:717731002 UMLS_CUI:C1336977 Basal cell carcinoma of Vulva disease_ontology basal cell carcinoma of the vulva DOID:4301 vulva basal cell carcinoma DOID:4301 A vulva carcinoma that has_material_basis_in basal cells. url:https://www.ncbi.nlm.nih.gov/pubmed/22935972 A nodular basal cell carcinoma that is characterized by a homogenous blue/black area. skin cystic basal cell carcinoma disease_ontology DOID:4302 cystic basal cell carcinoma DOID:4302 A nodular basal cell carcinoma that is characterized by a homogenous blue/black area. url:https://www.hindawi.com/journals/jsc/2011/450472/ NCI:C38111 UMLS_CUI:C1519182 skin sarcomatoid basal cell carcinoma disease_ontology DOID:4303 sarcomatoid basal cell carcinoma DOID:4303 NCI:C38110 UMLS_CUI:C1519320 skin signet ring cell basal cell carcinoma disease_ontology DOID:4304 signet ring basal cell carcinoma DOID:4304 A benign giant cell tumor that results_in the presence of multinucleated giant cells. MESH:D018212 NCI:C121932 SNOMEDCT_US_2023_03_01:697970009 UMLS_CUI:C0206638 Giant cell neoplasm of bone Giant cell tumor of bone Giant cell tumour of bone bone giant cell tumour disease_ontology giant cell myeloma osteoclastoma DOID:4305 bone giant cell tumor DOID:4305 A benign giant cell tumor that results_in the presence of multinucleated giant cells. url:http://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone A peripheral nervous system disease that is characterized by the pinching of a nerve root in the spine and has symptoms of pain, weakness, numbness and tingling. ICD10CM:M54.1 MESH:D011843 SNOMEDCT_US_2023_03_01:394640000 UMLS_CUI:C0700594 pinched nerve disease_ontology DOID:4306 radiculopathy DOID:4306 A peripheral nervous system disease that is characterized by the pinching of a nerve root in the spine and has symptoms of pain, weakness, numbness and tingling. url:https://en.wikipedia.org/wiki/Radiculopathy url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/radiculopathy A radiculopathy that is present in more than one nerve. MESH:D011128 NCI:C34934 SNOMEDCT_US_2023_03_01:75572007 UMLS_CUI:C0032586 disease_ontology DOID:4307 polyradiculopathy DOID:4307 A radiculopathy that is present in more than one nerve. url:https://en.wikipedia.org/wiki/Radiculopathy A peripheral nervous system disease that is characterized by the co-occurance of polyneuropahty and polyradicuopathy and is located in both the spinal nerve roots and the peripheral nerves. MESH:D011129 SNOMEDCT_US_2023_03_01:128078004 UMLS_CUI:C0032587 disease_ontology DOID:4308 polyradiculoneuropathy DOID:4308 A peripheral nervous system disease that is characterized by the co-occurance of polyneuropahty and polyradicuopathy and is located in both the spinal nerve roots and the peripheral nerves. url:https://en.wikipedia.org/wiki/Polyradiculoneuropathy MESH:D009209 UMLS_CUI:C0027073 disease_ontology DOID:431 myofascial pain syndrome DOID:431 MESH:D018235 NCI:C3751 SNOMEDCT_US_2023_03_01:75109009 UMLS_CUI:C0206658 disease_ontology DOID:4310 smooth muscle tumor DOID:4310 An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen. ICD10CM:L12.3 MESH:D016107 NCI:C84690 SNOMEDCT_US_2023_03_01:2772003 UMLS_CUI:C0079293 acquired epidermolysis bullosa disease_ontology DOID:4313 epidermolysis bullosa acquisita DOID:4313 An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen. url:https://www.nejm.org/doi/full/10.1056/NEJMicm1204895 A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia. Ovine encephalomyelitis disease_ontology DOID:4318 obsolete visna true DOID:4318 A viral infectious disease that results_in infection located_in brain in sheep and goats, has_material_basis_in Visna/Maedi virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated water, milk or colostrum. The infection has_symptom hindlimb weakness, has_symptom head tilt, has_symptom ataxia, has_symptom incoordination, has_symptom muscle tremors, has_symptom paresis, and has_symptom paraplegia. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/maedi_visna.pdf A choriocarcicoma that develops in the absence of a preceding gestational event. MESH:D031954 UMLS_CUI:C1135873 disease_ontology DOID:4320 non-gestational choriocarcinoma DOID:4320 A choriocarcicoma that develops in the absence of a preceding gestational event. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4467297/ ICDO:8072/0 NCI:C27518 SNOMEDCT_US_2023_03_01:733894009 UMLS_CUI:C1334362 disease_ontology DOID:4321 large cell acanthoma DOID:4321 ICDO:8104/0 MESH:D049309 NCI:C4468 SNOMEDCT_US_2023_03_01:254693008 UMLS_CUI:C0346005 disease_ontology DOID:4322 pilar sheath acanthoma DOID:4322 NCI:C27516 SNOMEDCT_US_2023_03_01:733892008 UMLS_CUI:C1333414 disease_ontology DOID:4323 epidermolytic acanthoma DOID:4323 NCI:C27517 SNOMEDCT_US_2023_03_01:397188008 UMLS_CUI:C1301270 disease_ontology DOID:4324 acantholytic acanthoma DOID:4324 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Bundibugyo virus (Orthoebolavirus bundibugyoense), Sudan ebolavirus (Orthoebolavirus sudanense), Tai Forest ebolavirus (Orthoebolavirus taiense), or Zaire ebolavirus (Orthoebolavirus zairense), which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. GARD:2035 ICD10CM:A98.4 MESH:D019142 NCI:C36171 SNOMEDCT_US_2023_03_01:123323003 UMLS_CUI:C0282687 Ebola Ebola disease Ebola hemorrhagic fever disease_ontology DOID:4325 Ebola virus disease DOID:4325 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Bundibugyo virus (Orthoebolavirus bundibugyoense), Sudan ebolavirus (Orthoebolavirus sudanense), Tai Forest ebolavirus (Orthoebolavirus taiense), or Zaire ebolavirus (Orthoebolavirus zairense), which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. url:https://en.wikipedia.org/wiki/Ebola url:https://www.cdc.gov/ebola/about/ url:https://www.nhs.uk/conditions/ebola/ url:https://www.who.int/health-topics/ebola url:https://www.who.int/news-room/fact-sheets/detail/ebola-virus-disease A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses. disease_ontology DOID:4326 obsolete Filoviridae infectious disease true DOID:4326 A Mononegavirales infectious disease that results_in infection in animals and humans, has_material_basis_in Filoviridae viruses. url:http://en.wikipedia.org/wiki/Filoviridae A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthomarburgvirus marburgense, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding. GARD:9444 ICD10CM:A98.3 MESH:D008379 NCI:C84883 SNOMEDCT_US_2023_03_01:123322008 UMLS_CUI:C0024788 Marburg disease Marburg virus disease disease_ontology DOID:4327 Marburg hemorrhagic fever DOID:4327 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthomarburgvirus marburgense, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/marburg/qa.htm A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs. GARD:6369 ICDO:9749/3 MESH:D031249 NCI:C53972 SNOMEDCT_US_2023_03_01:703711007 UMLS_CUI:C0878675 disease_ontology DOID:4329 Erdheim-Chester disease DOID:4329 A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs. url:https://medlineplus.gov/genetics/condition/erdheim-chester-disease/ url:https://rarediseases.org/rare-diseases/erdheim-chester-disease/ disease_ontology DOID:433 obsolete Intraventricular hemorrhage from any perinatal cause true DOID:433 A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells. GARD:8231 MESH:D015616 SNOMEDCT_US_2023_03_01:127069007 UMLS_CUI:C0019624 disease_ontology DOID:4330 non-Langerhans-cell histiocytosis DOID:4330 A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells. url:https://pubmed.ncbi.nlm.nih.gov/15547923/ A mouth disease that is characterized by long-lasting burning sensations of the mouth. GARD:5974 MESH:D002054 NCI:C62545 SNOMEDCT_US_2023_03_01:111349000 UMLS_CUI:C0006430 Orodynia Stomatopyrosis disease_ontology DOID:4331 burning mouth syndrome DOID:4331 A mouth disease that is characterized by long-lasting burning sensations of the mouth. url:https://pubmed.ncbi.nlm.nih.gov/30189984/ Hypophosphatemia, familial familial hypophosphataemia disease_ontology DOID:4332 obsolete familial hypophosphatemia true DOID:4332 A female reproductive system disease that is characterized by epithelium-lined fluid-filled cysts in the adnexa adjacent to the fallopian tube and ovary. ICD10CM:Q50.5 MESH:D010310 SNOMEDCT_US_2023_03_01:204831002 UMLS_CUI:C0030584 Cyst, fimbrial Embryonic fimbrial cyst disease_ontology DOID:4333 parovarian cyst DOID:4333 A female reproductive system disease that is characterized by epithelium-lined fluid-filled cysts in the adnexa adjacent to the fallopian tube and ovary. url:https://en.wikipedia.org/wiki/Paraovarian_cyst NCI:C7297 UMLS_CUI:C1336066 disease_ontology DOID:4334 splenic manifestation of prolymphocytic leukemia DOID:4334 A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring. DOID:0050109 ICD10CM:B35 MESH:D014007 NCI:C35072 SNOMEDCT_US_2023_03_01:85375000 UMLS_CUI:C0040254 favus disease_ontology DOID:4336 tinea favosa DOID:4336 A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885931/ A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern. DOID:0050114 DOID:12319 ICD9CM:110.0 NCI:C34536 SNOMEDCT_US_2023_03_01:186985002 UMLS_CUI:C0011640 Scalp ringworm Trichophyton rubrum tinea capitis dermatophytosis of scalp or beard tinea capitis due to Trichophyton rubrum disease_ontology Dermatophytosis of scalp DOID:4337 tinea capitis DOID:4337 A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern. url:http://www.nlm.nih.gov/medlineplus/ency/article/000878.htm url:https://drfungus.org/knowledge-base/tinea-capitis/ disease_ontology DOID:434 obsolete anterior mediastinum cancer true DOID:434 GARD:7848 MESH:D046350 MIM:176200 NCI:C85219 SNOMEDCT_US_2023_03_01:58275005 UMLS_CUI:C0162532 Protocoproporphyria Protoporphyrinogen oxidase deficiency disease_ontology DOID:4346 variegate porphyria DOID:4346 MESH:D008210 NCI:C78442 SNOMEDCT_US_2023_03_01:234109007 UMLS_CUI:C0024248 Lymph cyst disease_ontology DOID:4347 lymphocele DOID:4347 DOID:11084 DOID:11085 Rupture of uterus before onset of labor, antepartum Rupture of uterus before onset of labor, with delivery disease_ontology DOID:4349 obsolete complications occurring mainly in the course of labor and delivery true DOID:4349 disease_ontology DOID:435 obsolete malignant neoplasm of thymus, heart and mediastinum true DOID:435 Anaplasmosis (disorder) disease_ontology DOID:4350 obsolete bovine anaplasmosis true DOID:4350 disease_ontology DOID:4351 obsolete primary Anaplasmataceae infectious disease true DOID:4351 DOID:6352 ICD10CM:C69.4 NCI:C4364 NCI:C4766 SNOMEDCT_US_2023_03_01:126998003 SNOMEDCT_US_2023_03_01:93756008 UMLS_CUI:C0339349 UMLS_CUI:C0496833 malignant neoplasm of ciliary body malignant tumor of ciliary body malignant tumor of the Ciliary body neoplasm of ciliary body tumor of the Ciliary body disease_ontology DOID:4352 ciliary body cancer DOID:4352 An iris disease that is located_in the ciliary body. NCI:C35775 SNOMEDCT_US_2023_03_01:68575007 UMLS_CUI:C0271100 disease_ontology DOID:4353 ciliary body disease DOID:4353 An iris disease that is located_in the ciliary body. url:https://pubmed.ncbi.nlm.nih.gov/35695216/ malignant melanoma, regressing (morphologic abnormality) regressing malignant melanoma regressing melanoma disease_ontology DOID:4356 obsolete regressing malignant melanoma true DOID:4356 Experimental malignant melanoma disease_ontology DOID:4357 obsolete experimental melanoma true DOID:4357 disease_ontology DOID:4358 obsolete metastatic melanoma true DOID:4358 ICDO:8730/3 MESH:D018328 NCI:C3802 SNOMEDCT_US_2023_03_01:70594002 UMLS_CUI:C0206735 disease_ontology DOID:4359 amelanotic melanoma DOID:4359 ICD10CM:C38.2 ICD9CM:164.3 SNOMEDCT_US_2023_03_01:448670003 UMLS_CUI:C0153502 disease_ontology DOID:436 posterior mediastinum cancer DOID:436 ICDO:8771/3 NCI:C4236 SNOMEDCT_US_2023_03_01:37138001 UMLS_CUI:C0334443 epithelioid melanoma disease_ontology DOID:4360 epithelioid cell melanoma DOID:4360 A female reproductive organ cancer that is located_in the cervix. DOID:4361 ICD10CM:C53 ICD9CM:180 MESH:D002583 MIM:603956 NCI:C2940 NCI:C9311 SNOMEDCT_US_2023_03_01:123841004 SNOMEDCT_US_2023_03_01:254885005 UMLS_CUI:C0007847 UMLS_CUI:C0007873 cervical neoplasm cervix cancer cervix uteri cancer neoplasm of uterine cervix tumor of the Cervix Uteri uterine cervical neoplasm disease_ontology DOID:4362 cervical cancer DOID:4362 A female reproductive organ cancer that is located_in the cervix. url:http://cancergenome.nih.gov/cancersselected/cervicalcancer url:http://en.wikipedia.org/wiki/Cervical_cancer url:http://www.cancer.gov/dictionary?CdrID=444973 A breast cancer that arises_from melanocytes. NCI:C8410 SNOMEDCT_US_2023_03_01:188050009 UMLS_CUI:C0346787 breast melanoma malignant melanoma of breast disease_ontology DOID:4364 malignant breast melanoma DOID:4364 A breast cancer that arises_from melanocytes. url:https://www.ncbi.nlm.nih.gov/pubmed/15845569 A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. DOID:0090121 GARD:433 MESH:D043204 MIM:218030 NCI:C123231 ORDO:320 SNOMEDCT_US_2023_03_01:237770005 UMLS_CUI:C0342488 11-beta-hydroxysteroid dehydrogenase deficiency type 2 Ulick syndrome cortisol 11-beta-ketoreductase deficiency syndrome of apparent mineralocorticoid excess disease_ontology DOID:4367 apparent mineralocorticoid excess syndrome DOID:4367 A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. url:https://www.omim.org/entry/218030 disease_ontology DOID:4369 obsolete brain hypoxia-Ischemia true DOID:4369 An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath. DOID:443 DOID:444 GARD:7122 ICD10CM:G70.0 ICD10CM:G70.00 ICD9CM:358.0 ICD9CM:358.00 MESH:D009157 MIM:254200 NCI:C60989 SNOMEDCT_US_2023_03_01:155092009 UMLS_CUI:C0026896 UMLS_CUI:C1260409 disease_ontology DOID:437 OMIM mapping confirmed by DO. [SN]. myasthenia gravis DOID:437 An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath. url:https://www.ninds.nih.gov/health-information/disorders/myasthenia-gravis MESH:D045724 UMLS_CUI:C1148546 disease_ontology DOID:4370 stomach diverticulosis DOID:4370 A hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy. GARD:12390 MESH:D019873 SNOMEDCT_US_2023_03_01:402415001 UMLS_CUI:C0524988 disease_ontology DOID:4371 Schnitzler syndrome DOID:4371 A hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy. url:https://rarediseases.org/rare-diseases/schnitzler-syndrome/ url:https://www.nomidalliance.org/schnitzler.php DOID:1957 DOID:1958 ICD10CM:I66 ICD9CM:434.1 MESH:D020766 SNOMEDCT_US_2023_03_01:75543006 UMLS_CUI:C0007780 UMLS_CUI:C0752140 Cerebral embolism with cerebral infarction cerebral embolism disease_ontology DOID:4372 intracranial embolism DOID:4372 A lung disease that is characterized by inhalation of nitrogen oxides from exposure to silage gas in recently filled silos resulting in sudden death, pulmonary edema, and/or bronchiolitis obliterans. MESH:D012832 SNOMEDCT_US_2023_03_01:61233003 UMLS_CUI:C0037120 Silo-fillers' disease silo filler disease disease_ontology DOID:4374 Silo filler's disease DOID:4374 A lung disease that is characterized by inhalation of nitrogen oxides from exposure to silage gas in recently filled silos resulting in sudden death, pulmonary edema, and/or bronchiolitis obliterans. url:https://pubmed.ncbi.nlm.nih.gov/30879430/ url:https://wiki.idph.iowa.gov/epimanual/Home/CategoryID/149 disease_ontology DOID:4375 obsolete agricultural workers' disease true DOID:4375 A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual. MESH:D016269 UMLS_CUI:C0079840 milk allergic reaction disease_ontology DOID:4376 milk allergy DOID:4376 A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual. url:http://en.wikipedia.org/wiki/Milk_hypersensitivity A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms. MESH:D021181 NCI:C172313 SNOMEDCT_US_2023_03_01:91930004 UMLS_CUI:C0559469 Allergy to eggs disease_ontology DOID:4377 egg allergy DOID:4377 A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms. url:http://en.wikipedia.org/wiki/Allergy#Foods ls:IEDB A legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms. MESH:D021183 SNOMEDCT_US_2023_03_01:91935009 UMLS_CUI:C0559470 allergy to peanuts peanut allergic reaction disease_ontology DOID:4378 peanut allergy DOID:4378 A legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms. url:http://en.wikipedia.org/wiki/Allergy#Foods ls:IEDB A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis. MESH:D021184 NCI:C175521 SNOMEDCT_US_2023_03_01:395654004 UMLS_CUI:C0577620 allergy to nuts nut allergic reaction disease_ontology DOID:4379 nut allergy DOID:4379 A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis. url:https://en.wikipedia.org/wiki/Tree_nut_allergy An autoimmune disease affecting the nervous system. MESH:D020274 NCI:C99383 UMLS_CUI:C0751871 disease_ontology autoimmune nervous system disorder DOID:438 autoimmune disease of the nervous system DOID:438 An autoimmune disease affecting the nervous system. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1003353/ url:https://www.ncbi.nlm.nih.gov/pubmed/21619947 disease_ontology DOID:4381 obsolete conventional alveolar rhabdomyosarcoma true DOID:4381 disease_ontology DOID:4383 OMIM mapping confirmed by DO. [SN]. obsolete solid alveolar rhabdomyosarcoma true DOID:4383 An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form. NCI:C6247 UMLS_CUI:C1335126 Alveolar Rhabdomyosarcoma of the orbit disease_ontology DOID:4384 orbit alveolar rhabdomyosarcoma DOID:4384 An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form. url:https://pubmed.ncbi.nlm.nih.gov/31146616/ A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation. NCI:C4102 SNOMEDCT_US_2023_03_01:39056008 UMLS_CUI:C0334244 papillary epidermoid carcinoma disease_ontology DOID:4385 papillary squamous carcinoma DOID:4385 A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation. url:http://www.sciencedirect.com/science/article/pii/S0090825803003299 ICDO:8824/0 MESH:D047708 SNOMEDCT_US_2023_03_01:128917003 UMLS_CUI:C1266121 Lipoleiomyoma disease_ontology DOID:4386 myofibroma DOID:4386 disease_ontology DOID:4387 obsolete recurrent peripheral primitive neuroectodermal tumor true DOID:4387 NCI:C8776 UMLS_CUI:C0855009 osseous peripheral Neuroepithelioma disease_ontology DOID:4388 bone peripheral neuroepithelioma DOID:4388 NCI:C27471 UMLS_CUI:C1112437 peripheral Neuroectodermal tumor of soft tissues disease_ontology DOID:4389 soft tissue peripheral neuroepithelioma DOID:4389 A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. MESH:D020511 SNOMEDCT_US_2023_03_01:128213006 UMLS_CUI:C0751950 disease_ontology DOID:439 neuromuscular junction disease DOID:439 A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. url:http://en.wikipedia.org/wiki/Neuromuscular_junction_disease A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal. disease_ontology DOID:4393 obsolete Henipavirus infectious disease true DOID:4393 A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal. url:http://en.wikipedia.org/wiki/Henipavirus url:http://www.expasy.org/viralzone/all_by_species/85.html GARD:12967 MESH:D015616 NCI:C3356 SNOMEDCT_US_2023_03_01:15960008 UMLS_CUI:C0035290 Reticulohistiocytoma solitary reticulohistiocytoma disease_ontology DOID:4394 reticulohistiocytic granuloma DOID:4394 NCI:C3505 UMLS_CUI:C0743086 disease_ontology DOID:4397 granulomatous dermatitis DOID:4397 ICD10CM:L40.3 MESH:D011565 NCI:C34888 SNOMEDCT_US_2023_03_01:238610005 UMLS_CUI:C0030246 Acropustulosis Palmoplantar Pustulosis Pustular psoriasis of the palms and/or soles disease_ontology DOID:4398 pustulosis of palm and sole DOID:4398 NCI:C35277 UMLS_CUI:C0234894 disease_ontology DOID:4399 acneiform dermatitis DOID:4399 A neuropathy that affect the nerves that control the voluntary muscles. ICD10CM:G70.9 ICD9CM:358 MESH:D009468 NCI:C189005 SNOMEDCT_US_2023_03_01:1664005 UMLS_CUI:C0027868 disease_ontology DOID:440 neuromuscular disease DOID:440 A neuropathy that affect the nerves that control the voluntary muscles. url:http://www.nlm.nih.gov/medlineplus/neuromusculardisorders.html ICD10CM:L82 MESH:C562379 MIM:125600 NCI:C2984 SNOMEDCT_US_2023_03_01:254669003 UMLS_CUI:C0011645 disease_ontology DOID:4400 OMIM mapping confirmed by DO. [SN]. dermatosis papulosa nigra DOID:4400 disease_ontology DOID:4403 obsolete cervical glandular tumor true DOID:4403 MESH:D009783 NCI:C34859 SNOMEDCT_US_2023_03_01:200780008 UMLS_CUI:C0028796 Occupational allergic contact dermatitis Occupational eczema disease_ontology DOID:4404 occupational dermatitis DOID:4404 NCI:C27037 SNOMEDCT_US_2023_03_01:23615008 UMLS_CUI:C0262984 disease_ontology DOID:4406 spongiotic dermatitis DOID:4406 An irritant dermatitis that is caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight. MESH:D017484 NCI:C4816 SNOMEDCT_US_2023_03_01:53597009 UMLS_CUI:C0162830 Photosensitisation reaction Photosensitive Dermatitis Photosensitiveness disease_ontology DOID:4407 phototoxic dermatitis DOID:4407 An irritant dermatitis that is caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight. url:https://dermnetnz.org/cme/dermatitis/photosensitivity-dermatitis MESH:D005499 NCI:C94408 SNOMEDCT_US_2023_03_01:156411003 UMLS_CUI:C0016436 disease_ontology DOID:4409 folliculitis DOID:4409 Allergic Dermatitis due to Arnica Contact dermatitis due to arnica (disorder) Dermatitis due to arnica disease_ontology DOID:4410 obsolete contact dermatitis due to arnica true DOID:4410 A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus (Paslahepevirus balayani), which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice. DOID:12431 GARD:9541 MESH:D016751 SNOMEDCT_US_2023_03_01:7111000119109 UMLS_CUI:C0085293 disease_ontology DOID:4411 hepatitis E DOID:4411 A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus (Paslahepevirus balayani), which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice. url:https://www.cdc.gov/hepatitis-e/about/index.html url:https://www.ncbi.nlm.nih.gov/books/NBK532278/ url:https://www.who.int/news-room/fact-sheets/detail/hepatitis-e A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses. disease_ontology DOID:4412 obsolete Astroviridae infectious disease true DOID:4412 A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Astroviridae viruses. url:http://en.wikipedia.org/wiki/Astroviridae A cervical cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes. NCI:C40239 UMLS_CUI:C0877611 disease_ontology DOID:4413 cervix melanoma DOID:4413 A cervical cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes. url:https://www.ncbi.nlm.nih.gov/pubmed/25046205 MESH:D018219 NCI:C3739 SNOMEDCT_US_2023_03_01:25889007 UMLS_CUI:C0206644 Fibroxanthoma benign fibrous histiocytoma disease_ontology DOID:4415 fibrous histiocytoma DOID:4415 DOID:4417 GARD:9807 MESH:D018219 NCI:C6801 NCI:C7749 SNOMEDCT_US_2023_03_01:254749001 SNOMEDCT_US_2023_03_01:403999006 UMLS_CUI:C0002991 UMLS_CUI:C0346049 Pleomorphic fibroma Sclerosing angioma Sclerosing angioma of skin benign Cutaneous fibrous Histiocytoma dermatofibroma fibrohistiocytic tumor fibrous histiocytoma of skin fibrous xanthoma of skin disease_ontology DOID:4418 cutaneous fibrous histiocytoma DOID:4418 NCI:C6492 SNOMEDCT_US_2023_03_01:128741006 UMLS_CUI:C1266125 disease_ontology DOID:4419 benign deep fibrous histiocytoma DOID:4419 NCI:C40035 UMLS_CUI:C1510778 disease_ontology DOID:4422 malignant adenofibroma DOID:4422 A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids. MESH:D012618 MIM:269600 NCI:C85062 SNOMEDCT_US_2023_03_01:37821003 UMLS_CUI:C0036489 Sea-blue histiocyte syndrome disease_ontology DOID:4423 OMIM mapping confirmed by DO. [SN]. sea-blue histiocytosis DOID:4423 A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids. url:https://en.wikipedia.org/wiki/Sea-blue_histiocytosis url:https://rarediseases.info.nih.gov/diseases/8241/sea-blue-histiocytosis A non-Langerhans-cell histiocytosis is characterized as a benign skin lump or bump caused by a collection of cells called histiocytes. These may be red, orange or tan at first, but over time may become more yellow in color. These bumps usually appear on the head, neck and trunk. ICDO:9749/1 MESH:D014972 NCI:C3451 SNOMEDCT_US_2023_03_01:71709009 UMLS_CUI:C0043324 Multiple eruptive juvenile xanthogranuloma Naevoxanthoendothelioma Xanthoma neviforme disease_ontology DOID:4424 juvenile xanthogranuloma DOID:4424 A non-Langerhans-cell histiocytosis is characterized as a benign skin lump or bump caused by a collection of cells called histiocytes. These may be red, orange or tan at first, but over time may become more yellow in color. These bumps usually appear on the head, neck and trunk. url:https://www.nationwidechildrens.org/conditions/juvenile-xanthogranuloma url:https://www.ncbi.nlm.nih.gov/books/NBK526103/ Lipogranuloma (disorder) Lipogranuloma (morphologic abnormality) Oil granuloma (disorder) Xanthogranuloma Xanthogranuloma (disorder) lipogranulomatosis disease_ontology DOID:4425 obsolete lipogranuloma true DOID:4425 A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability. ICD10CM:F81.0 MESH:D004410 MIM:300509 MIM:600202 MIM:604254 MIM:606616 MIM:606896 MIM:608995 NCI:C96410 SNOMEDCT_US_2023_03_01:154954003 UMLS_CUI:C0476254 disease_ontology DOID:4428 Xref MGI. dyslexia DOID:4428 A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability. url:http://en.wikipedia.org/wiki/Dyslexia GARD:4900 ICDO:8156/3 MESH:D013005 NCI:C3379 SNOMEDCT_US_2023_03_01:128642005 UMLS_CUI:C0037661 Somatostatin cell neoplasm Somatostatin cell tumour disease_ontology DOID:4430 somatostatinoma DOID:4430 NCI:C95595 UMLS_CUI:C1368041 pancreatic Somatostatin cell tumor pancreatic delta cell somatostatin producing neoplasm disease_ontology DOID:4432 pancreatic somatostatinoma DOID:4432 NCI:C28396 UMLS_CUI:C1335301 pancreatic Delta cell tumor disease_ontology DOID:4433 pancreatic delta cell neoplasm DOID:4433 NCI:C5803 SNOMEDCT_US_2023_03_01:1186805005 UMLS_CUI:C1336005 small Intestine neuroendocrine tumor disease_ontology DOID:4434 small intestine neuroendocrine neoplasm DOID:4434 NCI:C5268 UMLS_CUI:C1332865 meningioma of the Cavernous sinus disease_ontology DOID:4435 cavernous sinus meningioma DOID:4435 NCI:C5286 UMLS_CUI:C1332301 meningioma of the Anterior Fossa disease_ontology DOID:4436 anterior cranial fossa meningioma DOID:4436 NCI:C5272 UMLS_CUI:C1335976 meningioma of the Skull Base disease_ontology DOID:4437 skull base meningioma DOID:4437 GARD:2005 NCI:C7009 SNOMEDCT_US_2023_03_01:1156833003 UMLS_CUI:C1333813 germinoma of CNS disease_ontology DOID:4438 central nervous system germinoma DOID:4438 A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells. NCI:C5461 UMLS_CUI:C1332880 central nervous system germ cell tumour germ cell tumor of the CNS germ cell tumour of the CNS disease_ontology DOID:4439 central nervous system germ cell tumor DOID:4439 A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells. url:https://www.ncbi.nlm.nih.gov/pubmed/25233069 A germinoma that has_material_basis_in cells that make sperm and eggs. ICDO:9061/3 MESH:D018239 NCI:C9309 SNOMEDCT_US_2023_03_01:443675005 UMLS_CUI:C0036631 Seminoma, Pure disease_ontology DOID:4440 OMIM mapping confirmed by DO. [LS]. seminoma DOID:4440 A germinoma that has_material_basis_in cells that make sperm and eggs. url:http://www.cancer.gov/dictionary?CdrID=46577 A germ cell cancer that derives_from cells that give rise to egg cells. ICDO:9060/3 MESH:D004407 SNOMEDCT_US_2023_03_01:60718004 UMLS_CUI:C0013377 disease_ontology DOID:4441 dysgerminoma DOID:4441 A germ cell cancer that derives_from cells that give rise to egg cells. url:http://en.wikipedia.org/wiki/Dysgerminoma url:http://www.cancer.gov/dictionary?CdrID=672835 An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix. NCI:C40225 UMLS_CUI:C1516408 disease_ontology DOID:4442 cervical alveolar soft part sarcoma DOID:4442 An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix. url:https://www.ncbi.nlm.nih.gov/pubmed/2479947 disease_ontology DOID:4443 obsolete cervical soft tissue tumor true DOID:4443 Arachnoid cyst Arachnoid cyst (disorder) Leptomeningeal Cyst disease_ontology DOID:4445 obsolete arachnoid cyst true DOID:4445 Cyst of central nervous system (disorder) Cyst of the CNS disease_ontology DOID:4446 obsolete central nervous system cyst true DOID:4446 MESH:D008269 MIM:153880 NCI:C34794 SNOMEDCT_US_2023_03_01:193387007 UMLS_CUI:C0024440 disease_ontology DOID:4447 OMIM mapping confirmed by DO. [SN]. cystoid macular edema DOID:4447 A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss. MESH:D008268 NCI:C123330 ORDO:279 SNOMEDCT_US_2023_03_01:302891003 UMLS_CUI:C0024437 Macular degeneration of retina disease_ontology DOID:4448 Xref MGI. macular degeneration DOID:4448 A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss. url:http://ghr.nlm.nih.gov/condition/age-related-macular-degeneration MESH:D008269 NCI:C35468 SNOMEDCT_US_2023_03_01:37231002 UMLS_CUI:C0271051 macular edema macular oedema macular retinal oedema disease_ontology DOID:4449 macular retinal edema DOID:4449 GARD:5893 ICD10CM:E26.81 ICD9CM:255.13 MESH:D001477 MIM:PS601678 NCI:C34412 SNOMEDCT_US_2023_03_01:707742001 UMLS_CUI:C0004775 Aldosteronism with hyperplasia of the adrenal cortex Bartter's syndrome disease_ontology DOID:445 Bartter disease DOID:445 A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney. EFO:0000681 GARD:13215 ICDO:8312/3 MESH:D002292 MIM:300854 NCI:C9385 ORDO:217071 SNOMEDCT_US_2023_03_01:254915003 UMLS_CUI:C0007134 RCC adenocarcinoma of kidney hypernephroma disease_ontology DOID:4450 Xref MGI. renal cell carcinoma DOID:4450 A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney. url:http://en.wikipedia.org/wiki/Renal_cell_carcinoma url:http://www.cancer.gov/dictionary?CdrID=661352 RCC A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products). NCI:C9384 SNOMEDCT_US_2023_03_01:254915003 UMLS_CUI:C1378703 carcinoma of kidney kidney carcinoma disease_ontology DOID:4451 renal carcinoma DOID:4451 A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products). url:http://en.wikipedia.org/wiki/Renal_cell_carcinoma Relapsed Renal cell carcinoma disease_ontology DOID:4452 obsolete recurrent renal cell carcinoma true DOID:4452 NCI:C6568 UMLS_CUI:C1333001 pediatric renal cell carcinoma disease_ontology DOID:4454 childhood kidney cell carcinoma DOID:4454 GARD:9571 disease_ontology DOID:4455 hereditary renal cell carcinoma DOID:4455 An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. DOID:12252 ICD10CM:E24 ICD10CM:E26 ICD9CM:255.0 ICD9CM:255.1 MESH:D003480 MESH:D006929 MIM:605635 MIM:613677 NCI:C113213 NCI:C2969 ORDO:235936 SNOMEDCT_US_2023_03_01:154705004 SNOMEDCT_US_2023_03_01:88213004 UMLS_CUI:C0010481 UMLS_CUI:C0020428 Cushing syndrome Cushing's syndrome hyperaldosteronism disease_ontology DOID:446 Xref MGI. primary hyperaldosteronism DOID:446 An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. url:https://en.wikipedia.org/wiki/Primary_aldosteronism url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34510 NCI:C4524 SNOMEDCT_US_2023_03_01:254916002 UMLS_CUI:C0346249 cystadenocarcinoma of kidney renal cystadenocarcinoma disease_ontology DOID:4463 multilocular clear cell renal cell carcinoma DOID:4463 A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material. GARD:9573 ICDO:8319/3 MESH:D002292 NCI:C6194 SNOMEDCT_US_2023_03_01:733470002 UMLS_CUI:C1266044 carcinoma of renal Collecting duct renal Medullary carcinoma renal carcinoma, collecting duct type disease_ontology DOID:4464 collecting duct carcinoma DOID:4464 A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material. url:https://en.wikipedia.org/wiki/Collecting_duct_carcinoma url:https://rarediseases.info.nih.gov/diseases/9573/collecting-duct-carcinoma url:https://www.ncbi.nlm.nih.gov/pubmed/26684811 A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. DOID:8063 GARD:9572 MESH:C538614 MESH:D002292 MIM:605074 NCI:C27890 NCI:C6975 SNOMEDCT_US_2023_03_01:4797003 UMLS_CUI:C1306837 UMLS_CUI:C1336078 Chromophil carcinoma of kidney papillary kidney carcinoma sporadic papillary renal cell carcinoma disease_ontology DOID:4465 OMIM mapping confirmed by DO. [SN]. papillary renal cell carcinoma DOID:4465 A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. url:http://cancergenome.nih.gov/cancersselected/kidneypapillary url:http://www.omim.org/entry/605074 A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope. GARD:9574 MESH:D002292 NCI:C4033 SNOMEDCT_US_2023_03_01:254915003 UMLS_CUI:C0279702 Clear cell carcinoma of kidney clear cell kidney carcinoma conventional (Clear cell) renal cell carcinoma conventional renal cell carcinoma renal clear cell carcinoma disease_ontology Clear-cell metastatic renal cell carcinoma DOID:4467 MESH:C538445 added from NeuroDevNet [WAK]. clear cell renal cell carcinoma DOID:4467 A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope. url:http://www.cancer.gov/dictionary?CdrID=45063 url:https://cancergenome.nih.gov/cancersselected/kidneyclearcell Clear-cell metastatic renal cell carcinoma MESH:C538445 An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. DOID:2617 DOID:4940 ICDO:8310/3 MESH:D008649 MESH:D018262 NCI:C36815 NCI:C4072 NCI:C4156 SNOMEDCT_US_2023_03_01:2221008 SNOMEDCT_US_2023_03_01:30546008 SNOMEDCT_US_2023_03_01:80727009 UMLS_CUI:C0025490 UMLS_CUI:C0206681 UMLS_CUI:C0334322 Mesonephroid Clear cell carcinoma Mesonephroma, malignant Water-clear cell adenocarcinoma Water-clear cell carcinoma Wolffian duct neoplasm malignant Mesonephroma mesonephroma disease_ontology DOID:4468 clear cell adenocarcinoma DOID:4468 An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/clear-cell-adenocarcinoma MESH:D015499 UMLS_CUI:C0035091 inborn renal tubular transport disorder disease_ontology DOID:447 renal tubular transport disease DOID:447 A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells. GARD:6064 MESH:D002292 NCI:C4146 SNOMEDCT_US_2023_03_01:128667008 UMLS_CUI:C1266042 Chromophobe carcinoma of kidney chromophobe adenocarcinoma kidney chromophobe renal cell carcinoma, chromophobe cell disease_ontology DOID:4471 chromophobe renal cell carcinoma DOID:4471 A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells. url:https://www.cancer.gov/ccg/research/genome-sequencing/tcga/studied-cancers/chromophobe-renal-cell-carcinoma-study NCI:C39807 UMLS_CUI:C1513719 disease_ontology DOID:4472 mucinous tubular and spindle renal cell carcinoma DOID:4472 MESH:D002292 NCI:C27893 SNOMEDCT_US_2023_03_01:128668003 UMLS_CUI:C1266043 renal cell carcinoma, spindle cell disease_ontology DOID:4473 sarcomatoid renal cell carcinoma DOID:4473 Drug-induced dyskinesia Drug-induced dyskinesia (disorder) disease_ontology DOID:4478 obsolete drug-Induced dyskinesia true DOID:4478 MESH:D011546 NCI:C85034 SNOMEDCT_US_2023_03_01:77098009 UMLS_CUI:C0033805 disease_ontology DOID:4479 pseudohypoaldosteronism DOID:4479 face neoplasm neoplasm of face (disorder) disease_ontology DOID:448 obsolete facial neoplasm true DOID:448 An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone. GARD:8173 ICD10CM:Q77.4 MESH:D000130 MIM:100800 NCI:C34345 SNOMEDCT_US_2023_03_01:268273004 UMLS_CUI:C0001080 Achondroplastic physique Chondrodystrophia osteosclerosis congenita disease_ontology DOID:4480 OMIM mapping confirmed by DO. [SN]. achondroplasia MESH:D000130 DOID:4480 An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone. url:http://en.wikipedia.org/wiki/Achondroplasia url:http://ghr.nlm.nih.gov/condition/achondroplasia url:http://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION%3Dsymptoms url:http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm url:https://www.genome.gov/Genetic-Disorders/Achondroplasia A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. DOID:12089 DOID:14030 DOID:8241 DOID:8242 EFO:0003956 MIM:607154 NCI:C34987 SNOMEDCT_US_2023_03_01:38103000 UMLS_CUI:C0002103 Non-seasonal allergic rhinitis Perenial allergic rhinitis atopic rhinitis hay fever pollenosis seasonal allergic rhinitis disease_ontology DOID:4481 allergic rhinitis MESH:D065631 DOID:4481 A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. url:http://en.wikipedia.org/wiki/Allergic_rhinitis url:http://en.wikipedia.org/wiki/Rhinitis url:https://www.merriam-webster.com/dictionary/allergic%20rhinitis#medicalDictionary ls:IEDB A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip. MESH:D012220 NCI:C34986 SNOMEDCT_US_2023_03_01:70076002 UMLS_CUI:C0035455 disease_ontology DOID:4483 rhinitis DOID:4483 A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip. url:http://en.wikipedia.org/wiki/Rhinitis NCI:C4282 SNOMEDCT_US_2023_03_01:30383009 UMLS_CUI:C0334515 Mesothelioma, biphasic, malignant mixed Mesothelioma disease_ontology DOID:4486 malignant biphasic mesothelioma DOID:4486 NCI:C45655 SNOMEDCT_US_2023_03_01:54443001 UMLS_CUI:C0334513 malignant fibrous mesothelioma spindled mesothelioma disease_ontology DOID:4488 sarcomatoid mesothelioma DOID:4488 NCI:C7985 SNOMEDCT_US_2023_03_01:65278006 UMLS_CUI:C0862312 disease_ontology DOID:4489 malignant epithelial mesothelioma DOID:4489 head neoplasm neoplasm of head (disorder) neoplasm of the head disease_ontology DOID:449 obsolete head neoplasm true DOID:449 A peritoneum cancer that is characterized by the presence of prominent hemangiopericytoma-like vessels and that arises from the peritoneum. Pleural and peritoneal Solitary fibrous tumor Pleural and peritoneal Solitary fibrous tumour malignant peritoneal solitary fibrous tumour disease_ontology DOID:4490 malignant peritoneal solitary fibrous tumor DOID:4490 A peritoneum cancer that is characterized by the presence of prominent hemangiopericytoma-like vessels and that arises from the peritoneum. url:https://medscimonit.com/abstract/index/idArt/459077/act/3 A syndrome affecting returning military veterans and civilian workers of the Gulf War. MESH:D018923 SNOMEDCT_US_2023_03_01:95877004 UMLS_CUI:C0282550 Gulf war syndrome disease_ontology DOID:4491 persian gulf syndrome DOID:4491 A syndrome affecting returning military veterans and civilian workers of the Gulf War. url:http://en.wikipedia.org/wiki/Gulf_War_syndrome An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poultry. At least five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress. ICD10CM:J09.X MESH:D005585 SNOMEDCT_US_2023_03_01:55604004 UMLS_CUI:C0016627 avian flu bird flu disease_ontology DOID:4492 avian influenza DOID:4492 An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poultry. At least five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress. url:http://www.cdc.gov/flu/avian/gen-info/avian-flu-humans.htm url:https://www.merriam-webster.com/dictionary/avian%20influenza#medicalDictionary url:https://www.who.int/news-room/fact-sheets/detail/influenza-(avian-and-other-zoonotic) A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites. Orthomyxoviridae disease disease due to Orthomyxoviridae (disorder) disease_ontology DOID:4493 obsolete Orthomyxoviridae infectious disease true DOID:4493 A (-)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Orthomyxoviridae family viruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by contaminated fomites. url:https://www.merriam-webster.com/medical/Orthomyxoviridae metastasis to the Cervix Uteri secondary malignant neoplasm of cervix uteri (disorder) secondary malignant neoplasm of uterine cervix (disorder) disease_ontology DOID:4496 obsolete metastatic malignant neoplasm to the cervix true DOID:4496 disease_ontology DOID:4499 obsolete child nutrition disorder true DOID:4499 A muscular dystrophy that is characterized by progressive muscle wasting and weakness. ICD10CM:G71.1 ICD9CM:359.2 MESH:D020967 NCI:C84913 SNOMEDCT_US_2023_03_01:155096007 UMLS_CUI:C0553604 disease_ontology DOID:450 myotonic disease MESH:D009223 DOID:450 A muscular dystrophy that is characterized by progressive muscle wasting and weakness. url:http://en.wikipedia.org/wiki/Myotonic_dystrophy url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy url:http://www.genome.gov/25521207 NCI:C34939 UMLS_CUI:C1514284 hypopotassemia potassium deficiency disorder disease_ontology DOID:4500 hypokalemia DOID:4500 A syndrome that is characterized by malformations of the face, oral cavity, and digits. ICD10CM:Q87.0 MESH:D009958 SNOMEDCT_US_2023_03_01:52868006 UMLS_CUI:C0029294 oral-facial-digital syndrome disease_ontology DOID:4501 Xref MGI. OMIM mapping confirmed by DO. [SN]. orofaciodigital syndrome DOID:4501 A syndrome that is characterized by malformations of the face, oral cavity, and digits. url:http://en.wikipedia.org/wiki/Orofaciodigital_syndrome url:https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance relapsed hemangiosarcoma disease_ontology DOID:4502 obsolete relapsed angiosarcoma true DOID:4502 A central nervous system sarcoma that is located_in the inner lining of blood vessels. NCI:C5450 UMLS_CUI:C1332875 hemangiosarcoma of the CNS disease_ontology DOID:4504 central nervous system angiosarcoma DOID:4504 A central nervous system sarcoma that is located_in the inner lining of blood vessels. url:http://thejns.org/doi/abs/10.3171/jns.1991.75.1.0073 An angiosarcoma that affects children. NCI:C9174 UMLS_CUI:C0279988 paediatric angiosarcoma paediatric hemangiosarcoma pediatric angiosarcoma pediatric hemangiosarcoma disease_ontology DOID:4505 childhood angiosarcoma DOID:4505 An angiosarcoma that affects children. url:http://findarticles.com/p/articles/mi_qa3725/is_201003/ai_n53080216/ disease_ontology DOID:4509 obsolete angiosarcoma associated with lymphedema true DOID:4509 An angiosarcoma that is located_in the aorta. NCI:C5376 UMLS_CUI:C1332312 Aortic hemangiosarcoma disease_ontology DOID:4510 aorta angiosarcoma DOID:4510 An angiosarcoma that is located_in the aorta. url:https://academic.oup.com/icvts/article/6/6/832/649705 url:https://pubmed.ncbi.nlm.nih.gov/34238080/ An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area. MESH:C536368 NCI:C5184 UMLS_CUI:C1332614 hemangiosarcoma of the breast disease_ontology DOID:4511 breast angiosarcoma DOID:4511 An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area. url:http://breastcancer.about.com/od/types/p/angiosarcoma.htm NCI:C9426 UMLS_CUI:C1333155 disease_ontology DOID:4512 conventional angiosarcoma DOID:4512 An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder. NCI:C5840 UMLS_CUI:C1333742 hemangiosarcoma of gallbladder disease_ontology DOID:4513 gallbladder angiosarcoma DOID:4513 An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder. url:https://www.ncbi.nlm.nih.gov/pubmed/15861270 A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter. NCI:C6043 UMLS_CUI:C1336748 hemangiosarcoma of the Thyroid disease_ontology DOID:4514 thyroid angiosarcoma DOID:4514 A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter. url:http://www.pathologyoutlines.com/thyroid.html A thyroid gland cancer that is located_in the supporting cells of the thyroid. NCI:C6041 UMLS_CUI:C1336756 sarcoma of the Thyroid gland disease_ontology DOID:4515 thyroid sarcoma DOID:4515 A thyroid gland cancer that is located_in the supporting cells of the thyroid. url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_thyroid_cancer_43.asp An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration. NCI:C4489 SNOMEDCT_US_2023_03_01:254794007 UMLS_CUI:C0346081 angiosarcoma of skin hemangiosarcoma of the skin disease_ontology DOID:4517 skin angiosarcoma DOID:4517 An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration. url:http://ezinearticles.com/?Symptoms-of-Angiosarcoma&id=2101634 A gastrointestinal system benign neoplasm that is a located_in the salivary glands. ICDO:8940/0 MESH:D008949 MIM:181030 NCI:C35691 SNOMEDCT_US_2023_03_01:8360001 UMLS_CUI:C0026277 mixed tumor of the Salivary gland disease_ontology DOID:452 pleomorphic adenoma DOID:452 A gastrointestinal system benign neoplasm that is a located_in the salivary glands. url:http://en.wikipedia.org/wiki/Pleomorphic_adenoma A cervix endometrical stromal tumor that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. NCI:C40220 UMLS_CUI:C3642326 endometrial stromal sarcoma of the cervix disease_ontology DOID:4520 cervical endometrial stromal sarcoma DOID:4520 A cervix endometrical stromal tumor that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. url:https://www.ncbi.nlm.nih.gov/pubmed/22986788 A cervical cancer that derives_from the fibrous connective tissue of the endometrium. NCI:C40218 UMLS_CUI:C4289586 disease_ontology DOID:4521 cervix endometrial stromal tumor DOID:4521 A cervical cancer that derives_from the fibrous connective tissue of the endometrium. url:https://www.ncbi.nlm.nih.gov/pubmed/17619891 NCI:C5378 UMLS_CUI:C1336530 angiosarcoma of the Superior Vena Cava disease_ontology DOID:4522 superior vena cava angiosarcoma DOID:4522 An angiosarcoma and sarcoma of prostate that is located_in the prostate. NCI:C5528 UMLS_CUI:C1335504 Prostatic hemangiosarcoma disease_ontology DOID:4524 prostate angiosarcoma DOID:4524 An angiosarcoma and sarcoma of prostate that is located_in the prostate. url:http://informahealthcare.com/doi/abs/10.3109/00313029009063790?journalCode=pat An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum. NCI:C6613 UMLS_CUI:C1334649 hemangiosarcoma of mediastinum disease_ontology DOID:4525 mediastinum angiosarcoma DOID:4525 An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925857/ An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels. NCI:C5232 UMLS_CUI:C1335152 hemangiosarcoma of Ovary disease_ontology DOID:4527 ovarian angiosarcoma DOID:4527 An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels. url:https://www.ncbi.nlm.nih.gov/pubmed/24520828 A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. GARD:10671 ICDO:8430/3 MESH:D018277 NCI:C3772 SNOMEDCT_US_2023_03_01:4079000 UMLS_CUI:C0206694 MEC disease_ontology DOID:4531 mucoepidermoid carcinoma DOID:4531 A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma MEC A syndrome that affects growth, cranial development, hair growth and dental development. GARD:288 MESH:D006210 MIM:234100 NCI:C84746 ORDO:2108 SNOMEDCT_US_2023_03_01:7903009 UMLS_CUI:C0018522 Francois dyscephalic syndrome Hallerman - Streiff syndrome Hallermann's syndrome disease_ontology DOID:4534 OMIM mapping confirmed by DO. [SN]. Hallermann-Streiff syndrome DOID:4534 A syndrome that affects growth, cranial development, hair growth and dental development. url:http://en.wikipedia.org/wiki/Hallermann-Streiff_syndrome A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis_in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. MESH:D007039 MIM:PS605389 ORDO:55654 SNOMEDCT_US_2023_03_01:53602002 UMLS_CUI:C0020678 disease_ontology DOID:4535 Xref MGI. hypotrichosis DOID:4535 A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis_in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. url:http://en.wikipedia.org/wiki/Hypotrichosis url:http://ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis disease_ontology DOID:4539 merged labyrinthine disease into inner ear disease [LS] obsolete labyrinthine disease true DOID:4539 A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper. ICD10CM:R48.8 MESH:D000381 SNOMEDCT_US_2023_03_01:27206009 UMLS_CUI:C0001825 disease_ontology DOID:4540 dysgraphia DOID:4540 A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper. url:http://en.wikipedia.org/wiki/Dysgraphia url:http://www.ninds.nih.gov/disorders/dysgraphia/dysgraphia.htm An agnosia that involves a severe problem with recalling words or names. MESH:D000849 NCI:C34386 SNOMEDCT_US_2023_03_01:10325006 UMLS_CUI:C0003113 Anomic aphasia anomia disease_ontology DOID:4541 nominal aphasia DOID:4541 An agnosia that involves a severe problem with recalling words or names. url:http://en.wikipedia.org/wiki/Nominal_aphasia ICDO:8300/0 MESH:D000237 NCI:C2856 SNOMEDCT_US_2023_03_01:9436005 UMLS_CUI:C0001431 Pituitary gland Basophilic adenoma disease_ontology DOID:4542 basophil adenoma DOID:4542 An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection. ICD10CM:R41.2 MESH:D000648 NCI:C34372 SNOMEDCT_US_2023_03_01:51921000 UMLS_CUI:C0002624 disease_ontology DOID:4543 retrograde amnesia DOID:4543 An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection. url:http://en.wikipedia.org/wiki/Amnesia ICDO:9240/3 MESH:D018211 NCI:C3737 SNOMEDCT_US_2023_03_01:56565002 UMLS_CUI:C0206637 disease_ontology DOID:4545 mesenchymal chondrosarcoma DOID:4545 NCI:C27374 UMLS_CUI:C1332982 pediatric mesenchymal chondrosarcoma disease_ontology DOID:4546 childhood mesenchymal chondrosarcoma DOID:4546 An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage. NCI:C27375 UMLS_CUI:C1332207 disease_ontology DOID:4547 adult mesenchymal chondrosarcoma DOID:4547 An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage. url:http://sarcomahelp.org/learning_center/mesenchymal_chondrosarcoma.html NCI:C27481 SNOMEDCT_US_2023_03_01:404080006 UMLS_CUI:C1275279 mesenchymal extraosseous chondrosarcoma disease_ontology DOID:4548 extraskeletal mesenchymal chondrosarcoma DOID:4548 A chondrosarcoma that is located_in exclusively soft tissue and that is characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. DOID:6496 ICDO:9231/3 MESH:C563195 MIM:612237 NCI:C27502 SNOMEDCT_US_2023_03_01:404079008 UMLS_CUI:C1275278 Myxoid extraosseous chondrosarcoma extraosseous chondrosarcoma disease_ontology DOID:4549 nomenclature update. extraskeletal myxoid chondrosarcoma DOID:4549 A chondrosarcoma that is located_in exclusively soft tissue and that is characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. url:https://en.wikipedia.org/wiki/Myxoid_chondrosarcoma url:https://pubmed.ncbi.nlm.nih.gov/10564384/ url:https://www.ncbi.nlm.nih.gov/pubmed/16084955 MESH:D000694 UMLS_CUI:C0002757 disease_ontology DOID:4550 anal gland neoplasm DOID:4550 MESH:D001005 NCI:C2877 SNOMEDCT_US_2023_03_01:126849006 UMLS_CUI:C0003463 anal neoplasm anal tumors neoplasm of anus disease_ontology DOID:4551 anus benign neoplasm DOID:4551 A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm. ICDO:8012/3 MESH:D018287 NCI:C3780 SNOMEDCT_US_2023_03_01:22687000 UMLS_CUI:C0206704 disease_ontology DOID:4552 large cell carcinoma DOID:4552 A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm. url:http://en.wikipedia.org/wiki/Carcinoma NCI:C6461 UMLS_CUI:C1334364 large cell carcinoma of the Thymus disease_ontology DOID:4553 thymus large cell carcinoma DOID:4553 NCI:C7612 SNOMEDCT_US_2023_03_01:15949004 UMLS_CUI:C1322286 Thymoma, type C disease_ontology DOID:4554 type C thymoma DOID:4554 An ovarian carcinoma that is characterized by large pleiomorphic cells with large round or oval nuclei, presence of mitoses and staining for neuroendocrine (NE) markers and has_material_basis_in neuroendocrine cells. NCI:C5238 UMLS_CUI:C1335174 Non-small-cell type neuroendocrine carcinoma of Ovary disease_ontology DOID:4555 ovarian large-cell neuroendocrine carcinoma DOID:4555 An ovarian carcinoma that is characterized by large pleiomorphic cells with large round or oval nuclei, presence of mitoses and staining for neuroendocrine (NE) markers and has_material_basis_in neuroendocrine cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014794/ NCI:C4450 SNOMEDCT_US_2023_03_01:254629004 UMLS_CUI:C0345958 large cell carcinoma of lung large cell lung carcinoma disease_ontology DOID:4556 lung large cell carcinoma DOID:4556 A mouth disease that is characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. MESH:D007967 SNOMEDCT_US_2023_03_01:67795000 UMLS_CUI:C0023523 Leukedema of mouth disease_ontology DOID:4557 Dorland, 27th ed [LS] oral leukoedema DOID:4557 A mouth disease that is characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. url:https://en.wikipedia.org/wiki/Leukoedema MESH:D008158 SNOMEDCT_US_2023_03_01:54572003 UMLS_CUI:C0024081 Ludwig angina cellulitis of floor of mouth disease_ontology DOID:4558 Ludwig's angina DOID:4558 A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation. ICD10CM:B77 ICD9CM:127.0 MESH:D001196 NCI:C128392 SNOMEDCT_US_2023_03_01:2435008 UMLS_CUI:C0003950 Ascariasis - roundworm disease_ontology Ascaris lumbricoides infection DOID:456 ascariasis DOID:456 A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation. url:http://en.wikipedia.org/wiki/Ascariasis url:http://www.dpd.cdc.gov/DPDx/HTML/Ascariasis.htm url:http://www.merck.com/mmpe/sec14/ch182/ch182d.html?qt=ascariasis&alt=sh An endometritis that is present for weeks or more and does not have an identifiable causative organism. NCI:C27625 UMLS_CUI:C1335061 disease_ontology DOID:4560 non specific chronic endometritis DOID:4560 An endometritis that is present for weeks or more and does not have an identifiable causative organism. url:https://www.ncbi.nlm.nih.gov/pubmed/9653909 An endometritis that is characterized by the presence of granulomas in the uterus. NCI:C27626 UMLS_CUI:C1333876 disease_ontology DOID:4561 granulomatous endometritis DOID:4561 An endometritis that is characterized by the presence of granulomas in the uterus. url:https://www.ncbi.nlm.nih.gov/pubmed/1326899 MESH:D004698 NCI:C34583 SNOMEDCT_US_2023_03_01:155334001 UMLS_CUI:C0014122 Endocarditis lenta SBE - Subacute bacterial endocarditis Subacute endocarditis, lenta disease_ontology DOID:4562 subacute bacterial endocarditis DOID:4562 A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end. disease_ontology DOID:457 obsolete Ascaridida infectious disease true DOID:457 A Chromadorea infectious disease that involves infection of humans and domestic animals by parasitic roundworms with three lips on the anteriour end. url:http://en.wikipedia.org/wiki/Ascaridida disease_ontology DOID:4582 obsolete metastatic meningioma true DOID:4582 disease_ontology DOID:4583 obsolete deletion of short arm of chromosome 1 (1p) associated meningioma true DOID:4583 NCI:C4719 SNOMEDCT_US_2023_03_01:253082002 UMLS_CUI:C0431118 Choroid meningioma meningioma of the Choroid Plexus disease_ontology DOID:4584 choroid plexus meningioma DOID:4584 disease_ontology DOID:4585 obsolete relapsed meningioma true DOID:4585 MESH:C537443 NCI:C5301 UMLS_CUI:C1333989 disease_ontology DOID:4586 OMIM mapping confirmed by DO. [SN]. familial meningioma DOID:4586 MESH:D008579 NCI:C4055 SNOMEDCT_US_2023_03_01:1157019008 UMLS_CUI:C0281784 meningioma, benign disease_ontology DOID:4587 benign meningioma DOID:4587 MESH:D008579 NCI:C4718 SNOMEDCT_US_2023_03_01:253081009 UMLS_CUI:C1384406 disease_ontology DOID:4588 secretory meningioma DOID:4588 disease_ontology DOID:4589 obsolete deletion of chromosome 22 associated meningioma true DOID:4589 meningiomatosis meningiomatosis (morphologic abnormality) meningiomatosis NOS (morphologic abnormality) disease_ontology DOID:4590 obsolete multiple meningiomas true DOID:4590 NCI:C4720 SNOMEDCT_US_2023_03_01:19453003 UMLS_CUI:C0431119 Lymphoplasmocyte-rich meningioma disease_ontology DOID:4591 lymphoplasmacyte-rich meningioma DOID:4591 NCI:C8264 UMLS_CUI:C0280656 pediatric meningioma disease_ontology DOID:4593 childhood meningioma DOID:4593 MESH:D008579 NCI:C4721 SNOMEDCT_US_2023_03_01:253084001 UMLS_CUI:C1384408 disease_ontology DOID:4594 microcystic meningioma DOID:4594 disease_ontology DOID:4595 obsolete adult meningioma true DOID:4595 neoplasm of adult CNS disease_ontology DOID:4596 obsolete central nervous system adult tumor true DOID:4596 disease_ontology DOID:4598 obsolete deletion of chromosome 3p associated meningioma true DOID:4598 An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth. ICD10CM:Q80.3 MESH:D017488 MIM:PS113800 NCI:C62569 SNOMEDCT_US_2023_03_01:20512000 UMLS_CUI:C0079153 Bullous ichthyosiform erythroderma Epidermolytic palmoplantar hyperkeratosis epidermolytic ichthyosis disease_ontology DOID:4603 epidermolytic hyperkeratosis DOID:4603 An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth. url:https://dermnetnz.org/topics/epidermolytic-ichthyosis url:https://medlineplus.gov/genetics/condition/epidermolytic-hyperkeratosis/ A biliary tract cancer that is located_in the bile duct. DOID:10019 ICD10CM:C24.0 ICD9CM:156.1 MESH:D001650 NCI:C2898 NCI:C7483 SNOMEDCT_US_2023_03_01:93790004 UMLS_CUI:C0005396 UMLS_CUI:C0153453 Ca extrahepatic bile ducts bile duct tumor malignant neoplasm of the extrahepatic bile duct disease_ontology DOID:4606 bile duct cancer DOID:4606 A biliary tract cancer that is located_in the bile duct. url:http://www.cancer.gov/dictionary/?CdrID=527370 A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. DOID:8092 GARD:5924 GARD:9304 ICD10CM:C24.9 ICD9CM:156.9 MESH:D001661 SNOMEDCT_US_2023_03_01:126853008 SNOMEDCT_US_2023_03_01:93688006 UMLS_CUI:C0005426 UMLS_CUI:C0750952 malignant tumour of biliary tract disease_ontology DOID:4607 biliary tract cancer DOID:4607 A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. url:http://en.wikipedia.org/wiki/Biliary_tract_cancer MESH:D003138 SNOMEDCT_US_2023_03_01:126857009 UMLS_CUI:C0009442 neoplasm of common bile duct disease_ontology DOID:4608 common bile duct neoplasm DOID:4608 DOID:2692 MESH:D009379 MESH:D019042 NCI:C4063 SNOMEDCT_US_2023_03_01:115228006 UMLS_CUI:C0027664 UMLS_CUI:C0282606 Myomatous neoplasm Myomatous tumor muscle neoplasm muscle tissue neoplasm neoplasm of muscle disease_ontology DOID:461 muscle benign neoplasm DOID:461 A gastrointestinal system benign neoplasm that is located_in the intestine. MESH:D007414 NCI:C3141 SNOMEDCT_US_2023_03_01:126769007 UMLS_CUI:C0021841 intestinal tumors intestine growth neoplasm of intestinal tract disease_ontology DOID:4610 intestinal benign neoplasm DOID:4610 A gastrointestinal system benign neoplasm that is located_in the intestine. url:http://en.wikipedia.org/wiki/Benign_tumor MESH:D020424 SNOMEDCT_US_2023_03_01:55802003 UMLS_CUI:C0154743 disease_ontology DOID:4613 ulnar neuropathy DOID:4613 carcinoma of unknown primary disease_ontology DOID:4615 obsolete carcinoma of unknown primary true DOID:4615 A bovine respiratory disease complex defined as an acute, noncontagious respiratory distress caused 5-10days after change to a better, often lush, pasture. Metabolites of the naturally occurring amino acid L-tryptophan probably are responsible for the disease. Severely affected cattle show extensive respiratory distress with mouth breathing, extension of the tongue, and drooling. There is extensive edema and emphysema, often with the formation of large air-filled bullae in interlobular and subpleural regions of the lung. Atypical interstitial pneumonia of cattle (disorder) Fog fever acute bovine pulmonary emphysema AND edema (disorder) disease_ontology DOID:4616 obsolete bovine atypical interstitial pneumonia true DOID:4616 A bovine respiratory disease complex defined as an acute, noncontagious respiratory distress caused 5-10days after change to a better, often lush, pasture. Metabolites of the naturally occurring amino acid L-tryptophan probably are responsible for the disease. Severely affected cattle show extensive respiratory distress with mouth breathing, extension of the tongue, and drooling. There is extensive edema and emphysema, often with the formation of large air-filled bullae in interlobular and subpleural regions of the lung. url:http://merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121221.htm&hide=1 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1789549/pdf/canvetj00318-0047.pdf MESH:D010484 SNOMEDCT_US_2023_03_01:196344002 UMLS_CUI:C0031029 Apical granuloma disease_ontology DOID:4617 periapical granuloma DOID:4617 A jaw cancer that effects the maxilla or upper jaw. MESH:D008441 SNOMEDCT_US_2023_03_01:126550004 UMLS_CUI:C0024954 disease_ontology maxillary neoplasm upper jaw bone cancer DOID:4618 maxillary cancer DOID:4618 A jaw cancer that effects the maxilla or upper jaw. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2654824/ A cancer that affects an anatomical entity. DOID:8996 malignant neoplasm of aortic body and other paraganglia malignant neoplasm of aortic body and other paraganglia (disorder) disease_ontology DOID:462 obsolete cancer by anatomical entity true DOID:462 A cancer that affects an anatomical entity. DO:lh A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. GARD:6665 ICD10CM:Q04.2 MESH:D016142 MIM:PS236100 NCI:C74988 ORDO:2162 SNOMEDCT_US_2023_03_01:30915001 UMLS_CUI:C0079541 Holoprosencephaly sequence disease_ontology DOID:4621 Xref MGI. OMIM mapping confirmed by DO. [SN]. holoprosencephaly DOID:4621 A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. url:http://en.wikipedia.org/wiki/Holoprosencephaly url:http://www.ncbi.nlm.nih.gov/books/NBK1530/ A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet. GARD:7251 ICD10CM:Q78.4 MESH:D004687 MIM:166000 NCI:C3213 ORDO:296 SNOMEDCT_US_2023_03_01:46041001 UMLS_CUI:C0024454 ENCHONDROMATOSIS, MULTIPLE Enchondromatosis with haemangiomata Kast's syndrome dyschondroplasia osteochondromatosis disease_ontology DOID:4624 OMIM mapping confirmed by DO. [SN]. Ollier disease DOID:4624 A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet. url:http://en.wikipedia.org/wiki/Ollier_disease Enchondromatosis (disorder) Ollier disease Ollier's disease disease_ontology DOID:4625 obsolete enchondromatosis true DOID:4625 GARD:6681 ICD10CM:Q04.3 MESH:D006832 NCI:C98949 SNOMEDCT_US_2023_03_01:30023002 UMLS_CUI:C0020225 disease_ontology DOID:4626 hydranencephaly DOID:4626 MESH:D020240 SNOMEDCT_US_2023_03_01:39746003 UMLS_CUI:C0234523 Classic apraxia Ideomotor dyspraxia Limb-kinetic apraxia Transcortical apraxia disease_ontology DOID:4627 ideomotor apraxia DOID:4627 A viral infectious disease that results_in infection causing reproductive failure of sows and respiratory problems of piglets and growing pigs, has_material_basis_in Porcine reproductive and respiratory syndrome virus, which is transmitted_by contact with feces, urine and semen of infected pigs, and transmitted_by fomites. The infection has_symptom stillborn piglets, has_symptom mummified fetuses, has_symptom premature farrowings, has_symptom weak-born pigs, and has_symptom pneumonia. disease_ontology DOID:4629 obsolete porcine reproductive and respiratory syndrome true DOID:4629 A viral infectious disease that results_in infection causing reproductive failure of sows and respiratory problems of piglets and growing pigs, has_material_basis_in Porcine reproductive and respiratory syndrome virus, which is transmitted_by contact with feces, urine and semen of infected pigs, and transmitted_by fomites. The infection has_symptom stillborn piglets, has_symptom mummified fetuses, has_symptom premature farrowings, has_symptom weak-born pigs, and has_symptom pneumonia. url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/54100.htm url:http://www.oie.int/eng/normes/mmanual/2008/pdf/2.08.07_PRRS.pdf SNOMEDCT_US_2023_03_01:46580000 UMLS_CUI:C0334269 transitional papilloma, inverted disease_ontology DOID:4630 inverted transitional papilloma DOID:4630 Inverting papilloma of Accessory sinus disease_ontology DOID:4631 obsolete inverted papilloma of paranasal sinus true DOID:4631 NCI:C8194 UMLS_CUI:C0280336 Inverting papilloma of the nasal cavity disease_ontology DOID:4633 nasal cavity inverting papilloma DOID:4633 NCI:C27016 SNOMEDCT_US_2023_03_01:15170009 UMLS_CUI:C0235591 submandibular lymphadenitis disease_ontology DOID:4636 submandibular adenitis DOID:4636 NCI:C26937 SNOMEDCT_US_2023_03_01:3502005 UMLS_CUI:C0149642 cervical lymphadenitis disease_ontology DOID:4637 cervical adenitis DOID:4637 NCI:C27332 UMLS_CUI:C0919638 disease_ontology DOID:4638 postauricular lymphadenitis DOID:4638 NCI:C27135 SNOMEDCT_US_2023_03_01:48573006 UMLS_CUI:C0392051 Suppurative lymphadenopathy disease_ontology DOID:4639 suppurative lymphadenitis DOID:4639 NCI:C27333 UMLS_CUI:C0919797 disease_ontology DOID:4640 axillary adenitis DOID:4640 disease_ontology DOID:4641 obsolete Bacteroides infectious disease true DOID:4641 An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. GARD:10752 ICD10CM:Q81.0 MESH:D016110 MIM:601001 MIM:615425 NCI:C84692 ORDO:304 SNOMEDCT_US_2023_03_01:205585003 UMLS_CUI:C0079298 disease_ontology DOID:4644 epidermolysis bullosa simplex DOID:4644 An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. url:https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#genes DOID:770 ICD10CM:C69.2 ICD9CM:190.5 MESH:D019572 NCI:C3216 NCI:C4800 SNOMEDCT_US_2023_03_01:127002001 SNOMEDCT_US_2023_03_01:93987004 UMLS_CUI:C0024622 UMLS_CUI:C0524801 Retinal tumor malignant Retinal neoplasm malignant neoplasm of retina malignant tumor of retina neoplasm of retina disease_ontology DOID:4645 retinal cancer DOID:4645 A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region. disease_ontology DOID:4647 OMIM mapping confirmed by DO. [LS]. trilateral retinoblastoma DOID:4647 A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region. url:https://www.ncbi.nlm.nih.gov/pubmed/10391573 MESH:D012175 NCI:C8495 UMLS_CUI:C0751483 Hereditary Retinoblastoma disease_ontology DOID:4648 familial retinoblastoma DOID:4648 A retinoblastoma that develops in both eyes. NCI:C8713 UMLS_CUI:C0854914 disease_ontology DOID:4650 bilateral retinoblastoma DOID:4650 A retinoblastoma that develops in both eyes. url:http://en.wikipedia.org/wiki/Retinoblastoma A retinoblastoma that effects only one eye. NCI:C8714 UMLS_CUI:C0854915 disease_ontology DOID:4651 unilateral retinoblastoma DOID:4651 A retinoblastoma that effects only one eye. url:http://en.wikipedia.org/wiki/Retinoblastoma A retinoblastoma that is located_in the eye and has not spread to other parts of the body. NCI:C7846 UMLS_CUI:C0278717 disease_ontology DOID:4653 intraocular retinoblastoma DOID:4653 A retinoblastoma that is located_in the eye and has not spread to other parts of the body. url:https://www.ncbi.nlm.nih.gov/pubmed/28620731 disease_ontology DOID:4655 obsolete relapsed retinoblastoma true DOID:4655 A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body. NCI:C7848 UMLS_CUI:C0278719 disease_ontology DOID:4656 extraocular retinoblastoma DOID:4656 A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body. url:http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7 ICD10CM:D47.09 NCI:C9303 SNOMEDCT_US_2023_03_01:134333006 UMLS_CUI:C0024897 disease_ontology DOID:4658 benign mastocytoma DOID:4658 ICD10CM:D47.09 MESH:D034801 NCI:C7136 SNOMEDCT_US_2023_03_01:63175003 UMLS_CUI:C0272202 disease_ontology DOID:4659 extracutaneous mastocytoma DOID:4659 ICD10CM:D47.02 ICDO:9741/1 MESH:D034721 NCI:C9286 SNOMEDCT_US_2023_03_01:70910003 UMLS_CUI:C0272203 ISM disease_ontology DOID:4660 indolent systemic mastocytosis DOID:4660 ISM A syndrome that is an adverse physical reaction to low levels of many common chemicals. MESH:D018777 SNOMEDCT_US_2023_03_01:702772003 UMLS_CUI:C0242992 20th century disease chemical AIDS environmental illness idiopathic environmental illness total allergy syndrome disease_ontology DOID:4661 multiple chemical sensitivity DOID:4661 A syndrome that is an adverse physical reaction to low levels of many common chemicals. url:http://en.wikipedia.org/wiki/Multiple_chemical_sensitivity url:http://www.osha.gov/SLTC/multiplechemicalsensitivities/index.html A brain disease that is characterized by Dejerine-Roussy syndrome that develops from thalamic injury. MESH:D013786 NCI:C85186 UMLS_CUI:C0039726 disease_ontology DOID:4662 thalamic disease DOID:4662 A brain disease that is characterized by Dejerine-Roussy syndrome that develops from thalamic injury. url:https://en.wikipedia.org/wiki/Thalamus ICD10CM:H16.12 ICD9CM:370.23 SNOMEDCT_US_2023_03_01:51286002 UMLS_CUI:C0155077 disease_ontology DOID:4664 filamentary keratitis DOID:4664 disease_ontology DOID:4665 obsolete superficial keratitis without conjunctivitis true DOID:4665 A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column. Kyphosis deformity of spine disease_ontology DOID:4667 kyphosis DOID:4667 A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column. url:http://en.wikipedia.org/wiki/Kyphosis url:http://www.mayoclinic.com/health/kyphosis/DS00681 url:http://www.nlm.nih.gov/medlineplus/ency/article/001240.htm url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/kyphosis#:~:text=Postural%20kyphosis%3A%20the%20most%20common,used%20to%20help%20correct%20posture url:https://www.ncbi.nlm.nih.gov/books/NBK558945/ A kyphosis that results_in abnormal formation located_in body of vertebra. disease_ontology DOID:4668 congenital kyphosis DOID:4668 A kyphosis that results_in abnormal formation located_in body of vertebra. url:http://en.wikipedia.org/wiki/Kyphosis url:http://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html url:http://www.posna.org/education/StudyGuide/congenitalKyphosis.asp url:http://www.wheelessonline.com/ortho/congenital_kyphosis ICDO:9122/0 NCI:C4296 SNOMEDCT_US_2023_03_01:56468002 UMLS_CUI:C0334532 disease_ontology DOID:467 venous hemangioma DOID:467 MESH:D005611 UMLS_CUI:C0016697 disease_ontology DOID:4671 freemartinism DOID:4671 A disorder of sexual development that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. DOID:4672 GARD:5803 ICD10CM:E34.5 ICD9CM:259.51 MESH:D013734 MIM:300068 NCI:C27226 ORDO:754 SNOMEDCT_US_2023_03_01:12313004 UMLS_CUI:C0039585 Androgen resistance syndrome Androgen-Insensitivity Syndrome Feminisation - testicular Goldberg - Maxwell syndrome Goldberg-Maxwell syndrome testicular Feminization syndrome testicular feminization disease_ontology DOID:4674 OMIM mapping confirmed by DO. [SN]. androgen insensitivity syndrome MESH:D013734 DOID:4674 A disorder of sexual development that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. url:http://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome url:https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1429/ NCI:C27055 SNOMEDCT_US_2023_03_01:11659006 UMLS_CUI:C0268708 disease_ontology DOID:4675 uremic neuropathy DOID:4675 ICD10CM:N19 MESH:D014511 SNOMEDCT_US_2023_03_01:44730006 UMLS_CUI:C0041948 UREMIA OF renal ORIGIN disease_ontology DOID:4676 uremia DOID:4676 A corneal disease that is characterized by inflammation of the cornea. ICD10CM:H16 ICD9CM:370 MESH:D007634 NCI:C26805 SNOMEDCT_US_2023_03_01:193757003 UMLS_CUI:C0022568 disease_ontology DOID:4677 keratitis DOID:4677 A corneal disease that is characterized by inflammation of the cornea. url:http://www.mayoclinic.org/diseases-conditions/keratitis/basics/definition/con-20035288 A mucoepidermoid carcinoma located_in the thymus. NCI:C6457 UMLS_CUI:C1334814 Mucoepidermoid carcinoma of the Thymus disease_ontology DOID:4678 thymus mucoepidermoid carcinoma DOID:4678 A mucoepidermoid carcinoma located_in the thymus. url:https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html A breast metaplastic carcinoma that is characterized by the presence of four cell types (basaloid, intermediate, epidermoid, and mucinous) in varying proportions. NCI:C5166 UMLS_CUI:C1334813 Mucoepidermoid carcinoma of the breast disease_ontology mucoepidermoid carcinoma of breast DOID:4679 breast mucoepidermoid carcinoma DOID:4679 A breast metaplastic carcinoma that is characterized by the presence of four cell types (basaloid, intermediate, epidermoid, and mucinous) in varying proportions. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758243/ ICDO:9132/0 MESH:D006391 NCI:C3699 SNOMEDCT_US_2023_03_01:54249004 UMLS_CUI:C0205789 Intramuscular Angioma disease_ontology DOID:468 intramuscular hemangioma DOID:468 A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types. GARD:10804 ICDO:8575/3 NCI:C5164 SNOMEDCT_US_2023_03_01:763479005 UMLS_CUI:C1334708 Metaplastic carcinoma of the breast disease_ontology metaplastic carcinoma of breast DOID:4680 breast metaplastic carcinoma DOID:4680 A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types. url:http://www.archivesofpathology.org/doi/pdf/10.5858/arpa.2013-0358-RS?code=coap-site url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3388429/ A mucoepidermoid carcinoma located_in a bile duct. NCI:C5862 UMLS_CUI:C1332552 Mucoepidermoid carcinoma of the bile duct disease_ontology DOID:4681 bile duct mucoepidermoid carcinoma DOID:4681 A mucoepidermoid carcinoma located_in a bile duct. url:https://pubmed.ncbi.nlm.nih.gov/35140960/ url:https://pubmed.ncbi.nlm.nih.gov/35697621/ A cholangiocarcinoma that arises from the extrahepatic bile ducts. NCI:C3860 SNOMEDCT_US_2023_03_01:372101000 UMLS_CUI:C0238019 carcinoma of extrahepatic bile duct extrahepatic bile duct cancer disease_ontology DOID:4682 extrahepatic bile duct carcinoma DOID:4682 A cholangiocarcinoma that arises from the extrahepatic bile ducts. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/extrahepatic-bile-duct-cancer NCI:C4472 SNOMEDCT_US_2023_03_01:254713002 UMLS_CUI:C0346019 Mucoepidermoid carcinoma of skin Mucoepidermoid skin carcinoma disease_ontology DOID:4683 cutaneous mucoepidermoid carcinoma DOID:4683 carcinoma of adnexa skin appendage carcinoma (morphologic abnormality) disease_ontology DOID:4684 obsolete skin appendage carcinoma true DOID:4684 A mucoepidermoid carcinoma located_in the lacrimal gland. NCI:C6091 UMLS_CUI:C1334359 Mucoepidermoid carcinoma of the lacrimal gland disease_ontology DOID:4685 lacrimal gland mucoepidermoid carcinoma DOID:4685 A mucoepidermoid carcinoma located_in the lacrimal gland. url:https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html NCI:C5343 UMLS_CUI:C1333461 Mucoepidermoid carcinoma of the esophagus disease_ontology DOID:4686 mucoepidermoid esophageal carcinoma DOID:4686 A thyroid gland carcinoma that is composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. NCI:C38762 UMLS_CUI:C1513721 mucoepidermoid thyroid carcinoma disease_ontology DOID:4687 thyroid gland mucoepidermoid carcinoma DOID:4687 A thyroid gland carcinoma that is composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C38762 A mucoepidermoid carcinoma located_in the larynx. NCI:C9463 UMLS_CUI:C1334373 Mucoepidermoid carcinoma of Larynx disease_ontology DOID:4688 laryngeal mucoepidermoid carcinoma DOID:4688 A mucoepidermoid carcinoma located_in the larynx. url:https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html NCI:C6555 UMLS_CUI:C1333265 disease_ontology DOID:469 deep angioma DOID:469 NCI:C5429 UMLS_CUI:C1332981 childhood mediastinal neurogenic tumour paediatric neurogenic tumour of mediastinum pediatric neurogenic tumor of mediastinum disease_ontology DOID:4690 childhood mediastinal neurogenic tumor DOID:4690 A mediastinal cancer that has_material_basis_in neural cells. NCI:C6624 UMLS_CUI:C1334672 neurogenic tumor of mediastinum disease_ontology DOID:4691 malignant mediastinal neurogenic neoplasm DOID:4691 A mediastinal cancer that has_material_basis_in neural cells. url:https://www.ncbi.nlm.nih.gov/pubmed/11154721 A globe disease that is characterized by inflammation of the inside of the eye. MESH:D009877 NCI:C34586 SNOMEDCT_US_2023_03_01:1847009 UMLS_CUI:C0014236 disease_ontology DOID:4692 endophthalmitis DOID:4692 A globe disease that is characterized by inflammation of the inside of the eye. url:http://en.wikipedia.org/wiki/Endophthalmitis url:https://www.merckmanuals.com/home/eye-disorders/uveitis-and-related-disorders/endophthalmitis url:https://www.merriam-webster.com/medical/endophthalmitis NCI:C5822 UMLS_CUI:C1334945 neural Plexus tumors disease_ontology DOID:4693 nerve plexus neoplasm DOID:4693 malignant tumor of PNS malignant tumor of peripheral nerve (disorder) disease_ontology DOID:4694 obsolete malignant peripheral nerve neoplasm true DOID:4694 GARD:10921 NCI:C6911 SNOMEDCT_US_2023_03_01:768934004 UMLS_CUI:C1370658 disease_ontology DOID:4696 intraneural perineurioma DOID:4696 DOID:8371 GARD:12698 ICDO:9571/0 MESH:D018317 NCI:C4973 NCI:C6912 SNOMEDCT_US_2023_03_01:128795001 SNOMEDCT_US_2023_03_01:404036006 UMLS_CUI:C0751691 UMLS_CUI:C1370657 soft tissue Perineurioma disease_ontology DOID:4697 perineurioma DOID:4697 NCI:C5119 UMLS_CUI:C1334946 tumor of nerve Root disease_ontology DOID:4698 nerve root neoplasm DOID:4698 DOID:14537 NCI:C5347 SNOMEDCT_US_2023_03_01:126733004 SNOMEDCT_US_2023_03_01:93782004 UMLS_CUI:C0346610 UMLS_CUI:C1290403 Epicardial tumor malignant Epicardial tumor malignant neoplasm of epicardium disease_ontology DOID:4699 epicardium cancer DOID:4699 ICD10CM:N42.9 ICD9CM:602.9 MESH:D011469 NCI:C26865 SNOMEDCT_US_2023_03_01:30281009 UMLS_CUI:C0033575 disease_ontology DOID:47 prostate disease DOID:47 ICDO:9142/0 NCI:C4299 SNOMEDCT_US_2023_03_01:20985003 UMLS_CUI:C0334540 disease_ontology DOID:470 verrucous keratotic hemangioma DOID:470 Congenital giant pigmented nevus of skin (disorder) Giant Pigmented nevus of the skin Intermediate and giant congenital naevus disease_ontology DOID:4700 obsolete bathing trunk nevus true DOID:4700 MESH:D049328 NCI:C3945 SNOMEDCT_US_2023_03_01:40467008 UMLS_CUI:C0265985 Mongolian Macula disease_ontology DOID:4702 mongolian spot DOID:4702 pediatric neoplasm of brain disease_ontology DOID:4705 obsolete childhood brain tumor true DOID:4705 A brain cancer that is located_in the infratentorial region. DOID:4789 ICD10CM:C71.7 MESH:D015192 NCI:C3139 NCI:C4966 UMLS_CUI:C0021432 UMLS_CUI:C0751593 brain neoplasm, Infratentorial malignant Infratentorial tumors disease_ontology DOID:4706 infratentorial cancer DOID:4706 A brain cancer that is located_in the infratentorial region. url:http://en.wikipedia.org/wiki/Tentorium_cerebelli url:http://www.ncbi.nlm.nih.gov/mesh/68015192 NCI:C5423 UMLS_CUI:C1332923 tumor of the Cervicomedullary Junction disease_ontology DOID:4707 cervicomedullary junction neoplasm DOID:4707 NCI:C5280 UMLS_CUI:C1333630 meningioma of the Foramen Magnum disease_ontology DOID:4708 foramen magnum meningioma DOID:4708 NCI:C4905 SNOMEDCT_US_2023_03_01:254773009 UMLS_CUI:C0687140 Angioma of the skin Angiomatous naevus of skin disease_ontology DOID:471 skin hemangioma DOID:471 disease_ontology DOID:4711 obsolete krebs 2 carcinoma true DOID:4711 mesenchymal tumor of stomach disease_ontology DOID:4712 obsolete gastric mesenchymal neoplasm true DOID:4712 DOID:12829 postpartum pelvic hematoma disease_ontology DOID:4714 obsolete obstetrical pelvic hematoma true DOID:4714 NCI:C5696 SNOMEDCT_US_2023_03_01:721194008 UMLS_CUI:C1333783 neuroendocrine tumor of the stomach disease_ontology DOID:4715 gastric neuroendocrine neoplasm DOID:4715 DOID:6949 NCI:C6448 UMLS_CUI:C1333769 germ cell tumor of the stomach germ cell tumour of the stomach malignant gastric germ cell tumour disease_ontology DOID:4716 malignant gastric germ cell tumor DOID:4716 A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary. DOID:5839 NCI:C3918 NCI:C8881 UMLS_CUI:C0262963 UMLS_CUI:C1334581 extragonadal germ cell malignant tumor neoplasm of Extragonadal germ cell disease_ontology tumor of extragonadal germ cell DOID:4717 extragonadal germ cell cancer DOID:4717 A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary. url:http://tcrc.acor.org/egc.html url:http://www.cancer.gov/cancertopics/types/extragonadal-germ-cell A malignant giant cell tumor that is composed_of multinucleated giant cells. NCI:C4304 SNOMEDCT_US_2023_03_01:10069009 UMLS_CUI:C0334552 Giant cell sarcoma of the bone Giant cell tumor of bone, malignant disease_ontology DOID:4719 bone giant cell sarcoma DOID:4719 A malignant giant cell tumor that is composed_of multinucleated giant cells. url:http://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone NCI:C6026 UMLS_CUI:C1336518 hemangioma of the Subglottis disease_ontology DOID:472 subglottic angioma DOID:472 A brain disease that is characterized by low pressure inside the skull, and thus in the brain tissue and cerebrospinal fluid; may occur as a result of an occult or iatrogenically caused leak of CSF into another body cavity; may result in the downward displacement of the cerebellar tonsils through the foramen magnum or Chiari malformation; has_symptom orthostatic headache; other symptoms are related to compression of cranial nerves due to brain sagging. ICD10CM:G96.81 MESH:D019585 SNOMEDCT_US_2023_03_01:433691000124104 UMLS_CUI:C0524812 disease_ontology DOID:4723 intracranial hypotension DOID:4723 A brain disease that is characterized by low pressure inside the skull, and thus in the brain tissue and cerebrospinal fluid; may occur as a result of an occult or iatrogenically caused leak of CSF into another body cavity; may result in the downward displacement of the cerebellar tonsils through the foramen magnum or Chiari malformation; has_symptom orthostatic headache; other symptoms are related to compression of cranial nerves due to brain sagging. url:https://en.wikipedia.org/wiki/Cerebrospinal_fluid_leak url:https://en.wikipedia.org/wiki/Intracranial_pressure url:https://en.wikipedia.org/wiki/Spontaneous_cerebrospinal_fluid_leak A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma. MESH:D001929 SNOMEDCT_US_2023_03_01:85974009 UMLS_CUI:C1527311 intracranial swelling wet brain disease_ontology DOID:4724 brain edema DOID:4724 A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma. url:https://en.wikipedia.org/wiki/Cerebral_edema neck neoplasm neck neoplasm (Including All Pharyngeal Related neoplasm) neoplasm of neck (disorder) disease_ontology DOID:4725 obsolete neck neoplasm true DOID:4725 Anterior synechiae (disorder) Anterior synechiae of iris disease_ontology DOID:4726 obsolete Anterior synechiae true DOID:4726 Synechia (iris) Synechiae NOS Unspecified adhesions of iris (disorder) adhesions of iris (disorder) adhesions of iris, unspecified disease_ontology DOID:4727 obsolete adhesions of iris true DOID:4727 A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food. ICD10CM:J30.0 MESH:D012223 NCI:C34988 SNOMEDCT_US_2023_03_01:155537009 UMLS_CUI:C0035460 disease_ontology DOID:4730 vasomotor rhinitis DOID:4730 A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food. url:http://en.wikipedia.org/wiki/Rhinitis url:https://www.merriam-webster.com/medical/vasomotor%20rhinitis A rhinitis which involves inflammation of the nose characterized by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues. MESH:D012222 SNOMEDCT_US_2023_03_01:28111002 UMLS_CUI:C0035459 Ozaena Rhinitis, atrophic dry rhinitis ozena disease_ontology rhinitis sicca DOID:4731 atrophic rhinitis DOID:4731 A rhinitis which involves inflammation of the nose characterized by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues. url:http://en.wikipedia.org/wiki/atrophic_rhinitis url:http://www.springerlink.com/content/d2712j215h42656g/fulltext.pdf GARD:5980 MESH:D002115 NCI:C84607 SNOMEDCT_US_2023_03_01:237900002 UMLS_CUI:C0006666 disease_ontology DOID:4734 calciphylaxis DOID:4734 A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate. DOID:10133 DOID:144 ICD10CM:F45 ICD10CM:F45.0 ICD9CM:300.8 ICD9CM:300.81 MESH:D013001 NCI:C34956 SNOMEDCT_US_2023_03_01:192430009 SNOMEDCT_US_2023_03_01:60368009 UMLS_CUI:C0037650 UMLS_CUI:C0520482 physiological malfunction arising from mental factor psychophysiologic disorder psychosomatic disorder disease_ontology DOID:4737 somatoform disorder DOID:4737 A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate. url:http://en.wikipedia.org/wiki/Somatoform_disorder disease_ontology DOID:4738 obsolete Iris or ciliary body disorder true DOID:4738 A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma. NCI:C39953 UMLS_CUI:C1515281 disease_ontology DOID:4739 testicular Brenner tumor DOID:4739 A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C39953 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5245059/ MESH:D006391 NCI:C4298 SNOMEDCT_US_2023_03_01:253054009 UMLS_CUI:C0205788 Angiolymphoid hyperplasia with eosinophilia epithelioid haemangioma epithelioid hemangioma disease_ontology DOID:474 histiocytoid hemangioma DOID:474 mixed Embryonal carcinoma and teratoma of testis disease_ontology DOID:4742 obsolete mixed embryonal carcinoma and teratoma of the testis true DOID:4742 A mixed germ cell cancer that is located_in the testis. NCI:C6347 UMLS_CUI:C1336720 mixed germ cell tumor of testis mixed germ cell tumour of testis mixed testicular germ cell tumour disease_ontology DOID:4743 mixed testicular germ cell tumor DOID:4743 A mixed germ cell cancer that is located_in the testis. url:http://en.wikipedia.org/wiki/Germ_cell_tumor A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium. ICD10CM:O43.21 MESH:D010921 NCI:C26856 SNOMEDCT_US_2023_03_01:70129008 UMLS_CUI:C0032044 disease_ontology DOID:4744 placenta accreta DOID:4744 A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium. url:http://en.wikipedia.org/wiki/Placenta_accreta disorder of smell (disorder) disease_ontology DOID:4746 obsolete olfaction disorder true DOID:4746 pediatric Supratentorial tumor disease_ontology DOID:4748 obsolete childhood supratentorial neoplasm true DOID:4748 NCI:C5586 UMLS_CUI:C1334757 meningioma of the middle Cranial Fossa disease_ontology DOID:4749 middle cranial fossa meningioma DOID:4749 ICD10CM:G23.2 MESH:D020955 MIM:271930 MIM:500003 MIM:609161 NCI:C125695 SNOMEDCT_US_2023_03_01:29618004 UMLS_CUI:C0270733 disease_ontology DOID:4751 OMIM mapping confirmed by DO. [LS]. striatonigral degeneration DOID:4751 DOID:11510 GARD:7079 MESH:D012791 MESH:D019578 NCI:C84909 SNOMEDCT_US_2023_03_01:16576004 SNOMEDCT_US_2023_03_01:230297002 UMLS_CUI:C0037019 UMLS_CUI:C0393571 Shy-Drager syndrome disease_ontology DOID:4752 OMIM mapping confirmed by DO. [LS]. multiple system atrophy DOID:4752 A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus. Infection by Dictyocaulus (disorder) disease_ontology DOID:4754 obsolete Dictyocaulus infectious disease true DOID:4754 A trichostrongyloidiasis that involves parasitic infection of the bronchial tree of horses, sheep, goats, deer, and cattle by nematodes of the genus Dictyocaulus. url:http://en.wikipedia.org/wiki/Dictyocaulus DOID:6021 NCI:C39942 NCI:C6356 SNOMEDCT_US_2023_03_01:67871000119105 UMLS_CUI:C0863027 UMLS_CUI:C1515288 testicular Leydig cell neoplasm disease_ontology DOID:4756 testicular Leydig cell tumor DOID:4756 A sex cord-gonadal stromal tumor that is located_in the testis. NCI:C39948 UMLS_CUI:C1515289 Sex Cord-Stromal tumor of testis disease_ontology DOID:4757 testicular sex cord-stromal neoplasm DOID:4757 A sex cord-gonadal stromal tumor that is located_in the testis. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C39948 Goniosynechiae Goniosynechiae (disorder) peripheral anterior synechiae (disorder) disease_ontology DOID:4758 obsolete peripheral anterior synechiae true DOID:4758 A breast benign neoplasm that is characterized by a collection of excess blood vessels. NCI:C5353 UMLS_CUI:C0853715 Angioma of the breast hemangioma of breast disease_ontology DOID:476 breast hemangioma DOID:476 A breast benign neoplasm that is characterized by a collection of excess blood vessels. url:https://www.ncbi.nlm.nih.gov/pubmed/22434703 A viral infectious disease that results_in infection in cattle and other ruminants, has_material_basis_in Macavirus and has_symptom fever, has_symptom bilateral corneal opacity, and has_symptom oculonasal discharge. Gangrenous Coryza Snotsiekte malignant catarrhal fever disease_ontology DOID:4760 obsolete malignant catarrh true DOID:4760 A viral infectious disease that results_in infection in cattle and other ruminants, has_material_basis_in Macavirus and has_symptom fever, has_symptom bilateral corneal opacity, and has_symptom oculonasal discharge. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/malignant_catarrhal_fever.pdf An impotence that is characterized by an inability to achieve and maintain an erection due to defects in the arterial blood flow to the penis or a defect in venous occlusive function allowing blood drainage from the erectile tissue. MESH:D018783 UMLS_CUI:C0243000 disease_ontology DOID:4762 vasculogenic impotence DOID:4762 An impotence that is characterized by an inability to achieve and maintain an erection due to defects in the arterial blood flow to the penis or a defect in venous occlusive function allowing blood drainage from the erectile tissue. url:https://pubmed.ncbi.nlm.nih.gov/33227246/ A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children. ICDO:8972/3 MESH:D018202 NCI:C3732 SNOMEDCT_US_2023_03_01:189815007 UMLS_CUI:C0206629 Blastoma of lung disease_ontology DOID:4765 pulmonary blastoma DOID:4765 A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children. url:http://www.cancer.gov/dictionary/?CdrID=446557 A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells. NCI:C8997 SNOMEDCT_US_2023_03_01:86049000 UMLS_CUI:C0936282 Blastoma disease_ontology DOID:4766 embryoma DOID:4766 A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells. url:http://en.wikipedia.org/wiki/Embryoma NCI:C36054 UMLS_CUI:C1332556 disease_ontology DOID:4767 classic pulmonary blastoma DOID:4767 NCI:C36053 UMLS_CUI:C1333420 disease_ontology DOID:4768 epithelial predominant pulmonary blastoma DOID:4768 A pulmonary blastoma that derives_from the lung or pleural cavity. GARD:8757 ICDO:8973/3 MESH:C537516 NCI:C5669 ORDO:64742 SNOMEDCT_US_2023_03_01:707670009 UMLS_CUI:C1266144 disease_ontology DOID:4769 pleuropulmonary blastoma DOID:4769 A pulmonary blastoma that derives_from the lung or pleural cavity. url:https://www.ncbi.nlm.nih.gov/pubmed/30480950 A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life. disease_ontology DOID:4772 obsolete mesoblastic nephroma true DOID:4772 A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life. url:http://en.wikipedia.org/wiki/Mesoblastic_nephroma A kidney cancer that is characterized by the presence of fibroblastic cells. DOID:4772 GARD:1493 MESH:D018201 NCI:C6569 UMLS_CUI:C1332965 disease_ontology DOID:4773 congenital mesoblastic nephroma DOID:4773 A kidney cancer that is characterized by the presence of fibroblastic cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588847/ A viral infectious disease that results_in infection in domesticated housecats, has_material_basis_in Feline immunodeficiency virus, which is transmitted_by contact with the infected cat's saliva during deep bite wounds, and transmitted_by congenital method. The virus attacks the immune system infecting CD4+ and CD8+ T lymphocytes, B lymphocytes, and macrophages. Some of the symptoms are loss of weight, malaise, pyrexia, anemia, gastroenteritis, gingivitis, stomatitis, diarrhea, infections of the skin, eyes, urinary tract, respiratory tract, and diseases of the nervous system. disease_ontology DOID:4775 obsolete feline acquired immunodeficiency syndrome true DOID:4775 A viral infectious disease that results_in infection in domesticated housecats, has_material_basis_in Feline immunodeficiency virus, which is transmitted_by contact with the infected cat's saliva during deep bite wounds, and transmitted_by congenital method. The virus attacks the immune system infecting CD4+ and CD8+ T lymphocytes, B lymphocytes, and macrophages. Some of the symptoms are loss of weight, malaise, pyrexia, anemia, gastroenteritis, gingivitis, stomatitis, diarrhea, infections of the skin, eyes, urinary tract, respiratory tract, and diseases of the nervous system. url:http://en.wikipedia.org/wiki/Feline_acquired_immunodeficiency_syndrome#Transmission url:http://www.scumdoctor.com/vaccination/immune-deficiency/Symptoms-Of-Feline-Acquired-Immunodeficiency-Syndrome.html ICD10CM:N01 NCI:C35264 SNOMEDCT_US_2023_03_01:45406000 UMLS_CUI:C0221239 disease_ontology DOID:4776 rapidly progressive glomerulonephritis DOID:4776 NCI:C35706 SNOMEDCT_US_2023_03_01:1162266005 UMLS_CUI:C0546345 disease_ontology DOID:4777 exudative glomerulonephritis DOID:4777 NCI:C35281 SNOMEDCT_US_2023_03_01:441815006 UMLS_CUI:C0235618 disease_ontology DOID:4778 proliferative glomerulonephritis DOID:4778 NCI:C35707 UMLS_CUI:C0238143 disease_ontology DOID:4779 focal embolic glomerulonephritis DOID:4779 vascular tumor of breast disease_ontology DOID:478 obsolete breast vascular neoplasm true DOID:478 A Goodpasture syndrome that is characterized by damage to only kidney capillaries. NCI:C35798 UMLS_CUI:C1332309 anti-GBM glomerulonephritis disease_ontology DOID:4780 anti-basement membrane glomerulonephritis DOID:4780 A Goodpasture syndrome that is characterized by damage to only kidney capillaries. url:https://unckidneycenter.org/kidneyhealthlibrary/glomerular-disease/anti-gbm-disease/ NCI:C35799 UMLS_CUI:C0859036 disease_ontology DOID:4781 diffuse glomerulonephritis DOID:4781 NCI:C35801 SNOMEDCT_US_2023_03_01:123609007 UMLS_CUI:C1263744 disease_ontology DOID:4782 subacute glomerulonephritis DOID:4782 GARD:9580 NCI:C35445 SNOMEDCT_US_2023_03_01:35546006 UMLS_CUI:C0221238 disease_ontology DOID:4783 mesangial proliferative glomerulonephritis DOID:4783 NCI:C35800 SNOMEDCT_US_2023_03_01:123752003 UMLS_CUI:C0744421 Immune Complex Glomerulonephritis disease_ontology DOID:4784 immune-complex glomerulonephritis DOID:4784 disease_ontology DOID:4786 obsolete primitive neuroectodermal tumor with Leptomeningeal Spread true DOID:4786 NCI:C5436 UMLS_CUI:C1332904 Cerebellopontine Angle PNET disease_ontology DOID:4787 cerebellopontine angle primitive neuroectodermal tumor DOID:4787 NCI:C5817 UMLS_CUI:C1334246 intracranial PNET disease_ontology DOID:4788 intracranial primitive neuroectodermal tumor DOID:4788 DOID:665 ICDO:9141/0 MESH:D000794 NCI:C2874 NCI:C4488 SNOMEDCT_US_2023_03_01:254788004 SNOMEDCT_US_2023_03_01:26810009 UMLS_CUI:C0002985 UMLS_CUI:C0346075 Angiokeratoma of skin Cutaneous Angiokeratoma skin angiokeratoma disease_ontology DOID:479 angiokeratoma DOID:479 ICDO:9501/3 MESH:D018242 NCI:C66808 SNOMEDCT_US_2023_03_01:715903004 UMLS_CUI:C0334596 Diktyoma, malignant Medulloepithelioma, central nervous system disease_ontology DOID:4790 medulloepithelioma DOID:4790 GARD:7366 NCI:C6968 SNOMEDCT_US_2023_03_01:699318007 UMLS_CUI:C1336538 Supratentorial PNET disease_ontology DOID:4791 supratentorial primitive neuroectodermal tumor DOID:4791 disease_ontology DOID:4794 obsolete embryonal Tumor with Multilayered Rosettes, C19MC-Altered true DOID:4794 A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex. MESH:D049290 MIM:272750 NCI:C133084 SNOMEDCT_US_2023_03_01:71253000 UMLS_CUI:C0268275 GM2 Activator Deficiency Tay-Sachs disease AB variant Tay-Sachs disease, variant AB disease_ontology DOID:4795 OMIM mapping confirmed by DO. [SN]. GM2 gangliosidosis, AB variant DOID:4795 A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex. url:https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant MESH:D018489 SNOMEDCT_US_2023_03_01:21162009 UMLS_CUI:C0242700 disease_ontology DOID:4796 space motion sickness DOID:4796 NCI:C9284 SNOMEDCT_US_2023_03_01:397357000 UMLS_CUI:C1301365 systemic mastocytosis with associated clonal haematological non-mast cell lineage disease systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease disease_ontology DOID:4797 SM-AHNMD DOID:4797 ICD10CM:C96.21 MESH:D034721 NCI:C9285 SNOMEDCT_US_2023_03_01:716655008 UMLS_CUI:C1112486 ASM Lymphadenopathic mastocytosis with eosinophilia disease_ontology DOID:4798 aggressive systemic mastocytosis DOID:4798 ASM disease_ontology DOID:4799 obsolete AIDS-related idiopathic thrombocytopenic purpura true DOID:4799 A reproductive system disease that affects male reproductive organs. ICD10CM:N50.9 ICD9CM:608.9 MESH:D005832 SNOMEDCT_US_2023_03_01:64557000 UMLS_CUI:C0017412 disease_ontology DOID:48 male reproductive system disease DOID:48 A reproductive system disease that affects male reproductive organs. url:https://www.dmu.edu/medterms/male-reproductive-system/male-reproductive-system-diseases/ A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity. MESH:D009069 NCI:C116757 SNOMEDCT_US_2023_03_01:60342002 UMLS_CUI:C0026650 disease_ontology DOID:480 movement disease DOID:480 A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity. url:https://en.wikipedia.org/wiki/Movement_disorders disease_ontology DOID:4800 obsolete iris vascular disorder true DOID:4800 A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation. hairy shaker disease disease_ontology DOID:4804 obsolete border disease true DOID:4804 A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation. url:http://www.oie.int/eng/Normes/mmanual/2008/pdf/2.07.01_BORDER_DIS.pdf An Enterovirus infectious disease that results_in infection, has_material_basis_in Swine vesicular disease virus, which is transmitted_by ingestion of contaminated food, or transmitted_by contact with an infected animal. The infection results_in_formation_of vesicles in the mouth, snout and feet, and has_symptom lameness. disease_ontology DOID:4807 obsolete swine vesicular disease true DOID:4807 An Enterovirus infectious disease that results_in infection, has_material_basis_in Swine vesicular disease virus, which is transmitted_by ingestion of contaminated food, or transmitted_by contact with an infected animal. The infection results_in_formation_of vesicles in the mouth, snout and feet, and has_symptom lameness. url:http://en.wikipedia.org/wiki/Swine_vesicular_disease A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food. disease_ontology DOID:4808 obsolete Enterovirus infectious disease true DOID:4808 A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Enterovirus, which is transmitted_by direct contact with secretions from an infected person, transmitted_by fomites, transmitted_by droplet spread of oronasal secretions from an infected person, or transmitted_by ingestion of contaminated food. url:http://www.idph.state.il.us/public/hb/hbentero.htm A viral infectious disease that results_in inflammation located_in brain and located_in spinal cord of pigs, has_material_basis_in Porcine teschovirus, which is transmitted_by ingestion of contaminated food, and transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom anorexia, has_symptom depression, has_symptom incoordination, has_symptom paralysis, has_symptom muscle tremors, has_symptom stiffness, has_symptom nystagmus, has_symptom seizures, and has_symptom loss of the voice. Poliomyelitis Suum Porcine polioencephalomyelitis Talfan disease Teschen disease disease_ontology DOID:4809 obsolete enzootic porcine encephalomyelitis true DOID:4809 A viral infectious disease that results_in inflammation located_in brain and located_in spinal cord of pigs, has_material_basis_in Porcine teschovirus, which is transmitted_by ingestion of contaminated food, and transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom anorexia, has_symptom depression, has_symptom incoordination, has_symptom paralysis, has_symptom muscle tremors, has_symptom stiffness, has_symptom nystagmus, has_symptom seizures, and has_symptom loss of the voice. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/enterovirus_encephalomyelitis.pdf UMLS_CUI:C0014887 disease_ontology DOID:481 obsolete central nervous system hereditary degenerative disease true DOID:481 A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35. GARD:5622 MESH:D019294 MIM:213700 NCI:C84628 ORDO:909 SNOMEDCT_US_2023_03_01:63246000 UMLS_CUI:C0238052 Cholestanol storage disease disease_ontology DOID:4810 OMIM mapping confirmed by DO. [SN]. cerebrotendinous xanthomatosis DOID:4810 A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35. url:http://en.wikipedia.org/wiki/Cerebrotendineous_xanthomatosis url:http://www.ncbi.nlm.nih.gov/books/NBK1409/ NCI:C9370 UMLS_CUI:C1377914 adult brain stem Gliosarcoma disease_ontology DOID:4812 adult brainstem gliosarcoma DOID:4812 A brain stem cancer that is characterized by mass lesion of the brainstem in adulthood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells and derives_from glial cells. NCI:C9091 UMLS_CUI:C0278873 adult Brainstem Neuroglial tumor disease_ontology DOID:4813 adult brain stem glioma DOID:4813 A brain stem cancer that is characterized by mass lesion of the brainstem in adulthood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells and derives_from glial cells. url:https://en.wikipedia.org/wiki/Brainstem_glioma Ganglioneuroma of Retroperitoneum disease_ontology DOID:4814 obsolete ganglioneuroma of the retroperitoneum true DOID:4814 disease_ontology DOID:4816 obsolete maturing ganglioneuroma true DOID:4816 An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum. ICDO:9490/0 MESH:D005729 NCI:C3049 NCI:C42065 SNOMEDCT_US_2023_03_01:189929007 UMLS_CUI:C0017075 UMLS_CUI:C1513025 disease_ontology DOID:4817 ganglioneuroma DOID:4817 An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum. url:https://medlineplus.gov/ency/article/001437.htm Occult Non-small cell carcinoma of the lung disease_ontology occult non-small cell carcinoma of lung DOID:4818 obsolete lung occult non-small cell carcinoma true DOID:4818 Occult carcinoma of the lung disease_ontology occult carcinoma of lung DOID:4819 obsolete lung occult carcinoma true DOID:4819 NCI:C27507 UMLS_CUI:C1333956 disease_ontology DOID:482 hemangioma of peripheral nerve DOID:482 Unspecified stage IV carcinoma of lung disease_ontology DOID:4828 obsolete metastatic lung carcinoma true DOID:4828 An adenosquamous carcinoma located_in lung that derives_from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells. NCI:C9133 SNOMEDCT_US_2023_03_01:1260042002 UMLS_CUI:C0279557 disease_ontology DOID:4829 adenosquamous lung carcinoma DOID:4829 An adenosquamous carcinoma located_in lung that derives_from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells. url:https://en.wikipedia.org/wiki/Adenosquamous_lung_carcinoma ICD10CM:D18.0 ICDO:9121/0 MESH:D006392 NCI:C3086 SNOMEDCT_US_2023_03_01:67668002 UMLS_CUI:C0018920 Cavernoma Cavernous haemangioma disease_ontology DOID:483 cavernous hemangioma DOID:483 A squamous cell carcinoma that contains squamous cells and gland-like cells. ICDO:8560/3 MESH:D018196 NCI:C3727 SNOMEDCT_US_2023_03_01:403902008 UMLS_CUI:C0206623 Adenosquamous cell carcinoma mixed adenocarcinoma and squamous carcinoma disease_ontology DOID:4830 adenosquamous carcinoma DOID:4830 A squamous cell carcinoma that contains squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC476239/ Mast cell malignancy of spleen (disorder) malignant mast cell tumors involving spleen disease_ontology DOID:4831 obsolete spleen mast cell malignancy true DOID:4831 recurrent NSCLC disease_ontology DOID:4832 obsolete non small cell lung cancer recurrent true DOID:4832 relapsed Unspecified carcinoma of the lung disease_ontology DOID:4833 obsolete recurrent lung carcinoma true DOID:4833 A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones. GARD:6542 MESH:D010015 SNOMEDCT_US_2023_03_01:240161003 UMLS_CUI:C0029436 Disappearing bone disease Gorham disease essential osteolysis massive osteolysis phantom bone disease disease_ontology Gorham-Stout Syndrome DOID:4837 Gorham's disease DOID:4837 A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones. url:http://en.wikipedia.org/wiki/Gorham%27s_disease url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Gorham%27s%20Disease A carcinoma that derives_from myoepithelial cells. GARD:10558 ICDO:8982/3 NCI:C7596 SNOMEDCT_US_2023_03_01:24292006 UMLS_CUI:C0334699 disease_ontology DOID:4838 myoepithelial carcinoma DOID:4838 A carcinoma that derives_from myoepithelial cells. url:http://www.diagnosticpathology.org/content/3/1/7 MESH:D018266 NCI:C40310 SNOMEDCT_US_2023_03_01:54734006 UMLS_CUI:C0206684 Sebaceous carcinoma adenocarcinoma of the Sebaceous gland disease_ontology DOID:4839 sebaceous adenocarcinoma DOID:4839 MESH:D020141 SNOMEDCT_US_2023_03_01:21112004 UMLS_CUI:C0600502 disease_ontology DOID:484 vascular hemostatic disease DOID:484 A skin cancer that arises from the sebaceous glands. ICD10CM:C44 ICDO:8410/3 NCI:C8409 SNOMEDCT_US_2023_03_01:188083002 UMLS_CUI:C1382026 Malignant Sebaceous Neoplasm malignant Sebaceous tumor malignant neoplasm of sebaceous gland disease_ontology DOID:4840 sebaceous carcinoma DOID:4840 A skin cancer that arises from the sebaceous glands. url:https://www.mayoclinic.org/diseases-conditions/sebaceous-carcinoma/cdc-20352957 malignant skin Appendage neoplasm malignant tumor of epidermal appendage (disorder) disease_ontology DOID:4841 obsolete malignant tumor of epidermal appendage true DOID:4841 ICDO:9383/1 MESH:D018315 NCI:C3795 SNOMEDCT_US_2023_03_01:4553004 UMLS_CUI:C0206725 Subependymal astrocytoma WHO grade I Ependymal tumor mixed subependymoma-ependymoma disease_ontology DOID:4843 subependymal glioma DOID:4843 MESH:D004806 NCI:C3017 SNOMEDCT_US_2023_03_01:443643007 UMLS_CUI:C0014474 WHO grade II Ependymal tumor epithelial ependymoma disease_ontology DOID:4844 benign ependymoma DOID:4844 A pilocytic astrocytoma that is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. ICDO:9425/3 NCI:C40315 SNOMEDCT_US_2023_03_01:388600004 UMLS_CUI:C1519086 disease_ontology DOID:4845 pilomyxoid astrocytoma DOID:4845 A pilocytic astrocytoma that is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. url:https://pubmed.ncbi.nlm.nih.gov/30945015/ url:https://radiopaedia.org/articles/pilomyxoid-astrocytoma?lang=us NCI:C5408 UMLS_CUI:C1334254 Intradural Extramedullary Astrocytic tumor of the Cauda Equina disease_ontology DOID:4846 cauda equina intradural extramedullary astrocytoma DOID:4846 NCI:C5479 SNOMEDCT_US_2023_03_01:126963001 UMLS_CUI:C1263892 tumor of the Cauda Equina disease_ontology DOID:4847 cauda equina neoplasm DOID:4847 NCI:C9475 UMLS_CUI:C0740480 astrocytoma of Cerebellum disease_ontology DOID:4848 cerebellar astrocytoma DOID:4848 glioma of the optic tract disease_ontology DOID:4850 obsolete glioma of visual pathway true DOID:4850 A childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain. GARD:9808 ICDO:9421/1 MESH:D001254 NCI:C4047 SNOMEDCT_US_2023_03_01:67859002 UMLS_CUI:C0334583 Piloid astrocytoma grade I Astrocytic tumor disease_ontology DOID:4851 pilocytic astrocytoma DOID:4851 A childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain. url:http://en.wikipedia.org/wiki/Pilocytic_astrocytoma url:http://www.cancer.gov/dictionary?CdrID=44341 A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. ICDO:9424/3 NCI:C4323 SNOMEDCT_US_2023_03_01:189924002 UMLS_CUI:C0334586 Pleomorphic Xantho-astrocytoma disease_ontology DOID:4852 pleomorphic xanthoastrocytoma DOID:4852 A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. url:https://www.cancer.gov/rare-brain-spine-tumor/tumors/pleomorphic-xanthroastrocytoma NCI:C6809 SNOMEDCT_US_2023_03_01:277507004 UMLS_CUI:C0349620 Cerebellar Pilocytic astrocytoma disease_ontology DOID:4853 pilocytic astrocytoma of cerebellum DOID:4853 NCI:C5128 UMLS_CUI:C1333284 astrocytoma of Diencephalon disease_ontology DOID:4855 diencephalic astrocytoma DOID:4855 ICDO:9442/1 NCI:C5419 SNOMEDCT_US_2023_03_01:128909006 UMLS_CUI:C1266178 disease_ontology DOID:4856 gliofibroma DOID:4856 A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures. NCI:C7173 Diffuse astrocytoma, low grade WHO grade II astrocytoma disease_ontology DOID:4857 diffuse astrocytoma DOID:4857 A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures. url:https://braintumorcenter.ucsf.edu/condition/diffuse-astrocytoma-grade-ii NCI:C8274 UMLS_CUI:C0280795 Pineal Astrocytic tumor disease_ontology DOID:4858 pineal gland astrocytoma DOID:4858 NCI:C27505 SNOMEDCT_US_2023_03_01:403976007 UMLS_CUI:C1304511 disease_ontology DOID:486 glomeruloid hemangioma DOID:486 A brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells derives_from astrocytes. NCI:C7445 SNOMEDCT_US_2023_03_01:107581000119103 UMLS_CUI:C1332608 Brainstem astrocytoma disease_ontology DOID:4860 brain stem astrocytic neoplasm DOID:4860 A brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells derives_from astrocytes. url:https://en.wikipedia.org/wiki/Astrocytoma NCI:C4641 SNOMEDCT_US_2023_03_01:254948003 UMLS_CUI:C0349540 Spinal astrocytoma astrocytoma of spinal cord disease_ontology DOID:4863 spinal cord astrocytoma DOID:4863 A viral infectious disease that results_in infection, has_material_basis_in Rubella virus, which is transmitted_by direct contact with the infected person through coughing and sneezing, and transmitted_by congenital method. Rubivirus infectious disease disease_ontology DOID:4864 obsolete Rubella virus infectious disease true DOID:4864 A viral infectious disease that results_in infection, has_material_basis_in Rubella virus, which is transmitted_by direct contact with the infected person through coughing and sneezing, and transmitted_by congenital method. url:http://www.ictvdb.org/ICTVdB/00.073.0.02.htm A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses. disease_ontology DOID:4865 obsolete Togaviridae infectious disease true DOID:4865 A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Togaviridae viruses. url:http://en.wikipedia.org/wiki/Togaviridae A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. MESH:D003528 NCI:C2970 SNOMEDCT_US_2023_03_01:11671000 UMLS_CUI:C0010606 Cylindroma disease_ontology DOID:4866 salivary gland adenoid cystic carcinoma DOID:4866 A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. url:https://oralcancerfoundation.org/facts/rare/adenoid-cystic-carcinoma/ A cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. It shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. Cytologically, the nuclei are angulated and hyperchromatic, without prominent nucleoli. NCI:C6346 SNOMEDCT_US_2023_03_01:763064007 UMLS_CUI:C1332911 adenoid cystic carcinoma of the Cervix Uteri disease_ontology DOID:4867 cervical adenoid cystic carcinoma DOID:4867 A cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. It shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. Cytologically, the nuclei are angulated and hyperchromatic, without prominent nucleoli. url:https://www.ncbi.nlm.nih.gov/pubmed/26090035 url:https://www.ncbi.nlm.nih.gov/pubmed/28348909 NCI:C5539 UMLS_CUI:C1335502 adenoid cystic carcinoma of the prostate disease_ontology adenoid cystic carcinoma of prostate DOID:4868 prostate adenoid cystic carcinoma DOID:4868 NCI:C9462 UMLS_CUI:C1334368 adenoid cystic carcinoma of Larynx disease_ontology DOID:4869 laryngeal adenoid cystic carcinoma DOID:4869 NCI:C4540 SNOMEDCT_US_2023_03_01:254987003 UMLS_CUI:C0346340 disease_ontology adenoid cystic carcinoma of lacrimal gland DOID:4870 lacrimal gland adenoid cystic carcinoma DOID:4870 SNOMEDCT_US_2023_03_01:399968001 UMLS_CUI:C0346017 adenoid cystic carcinoma of the skin adenoid cystic eccrine carcinoma adenoid cystic eccrine carcinoma of skin disease_ontology DOID:4871 cutaneous adenocystic carcinoma DOID:4871 NCI:C5666 SNOMEDCT_US_2023_03_01:1260019009 UMLS_CUI:C1334439 pulmonary adenoid cystic carcinoma disease_ontology adenoid cystic carcinoma of lung DOID:4872 lung adenoid cystic carcinoma DOID:4872 A motor neuron disease that is characterized by lower motor neuron signs of wasting, weakness, and loss of reflexes and that is located in the anterior horn of the spinal cord that contains the motor neurons responsible for body muscles. ICD9CM:335 SNOMEDCT_US_2024_03_01:85672005 UMLS_CUI:C0154681 disease_ontology DOID:4873 anterior horn cell disease DOID:4873 A motor neuron disease that is characterized by lower motor neuron signs of wasting, weakness, and loss of reflexes and that is located in the anterior horn of the spinal cord that contains the motor neurons responsible for body muscles. url:https://academic.oup.com/book/25268/chapter-abstract/189870421?redirectedFrom=fulltext url:https://aimdrjournal.com/wp-content/uploads/2021/08/PE6_CR_PM.pdf url:https://www.neurores.org/index.php/neurores/article/view/407/409 NCI:C6051 SNOMEDCT_US_2023_03_01:254619006 UMLS_CUI:C0345945 Tracheal adenoid cystic carcinoma disease_ontology DOID:4875 trachea adenoid cystic carcinoma DOID:4875 A tracheal cancer that effects the airway that leads from the larynx to the bronchi. SNOMEDCT_US_2023_03_01:154486000 UMLS_CUI:C0848879 Pancoast's tumor disease_ontology carcinoma of the trachea DOID:4876 trachea carcinoma DOID:4876 A tracheal cancer that effects the airway that leads from the larynx to the bronchi. url:http://nci.nih.gov/dictionary/?CdrID=46623 A breast carcinoma that is characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns. NCI:C5130 UMLS_CUI:C1332167 Mammary Adenocystic carcinoma disease_ontology adenoid cystic carcinoma of breast DOID:4877 breast adenoid cystic carcinoma DOID:4877 A breast carcinoma that is characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266822/ An esophageal carcinoma that derives_from epithelial cells of the salivary gland. NCI:C5342 UMLS_CUI:C1333441 adenoid cystic carcinoma, esophagus disease_ontology DOID:4878 esophageal adenoid cystic carcinoma DOID:4878 An esophageal carcinoma that derives_from epithelial cells of the salivary gland. url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma A Bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic periodic acid-Schiff-positive diastase-resistant material. NCI:C40295 UMLS_CUI:C1511047 Bartholin gland adenoid cystic carcinoma disease_ontology DOID:4879 Bartholin's gland adenoid cystic carcinoma DOID:4879 A Bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic periodic acid-Schiff-positive diastase-resistant material. url:https://www.ncbi.nlm.nih.gov/pubmed/17488169 bone vascular neoplasm osseous vascular tumor disease_ontology DOID:488 obsolete malignant bone vascular tumor true DOID:488 A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope. DOID:7745 NCI:C4264 ORDO:457246 SNOMEDCT_US_2023_03_01:24007003 UMLS_CUI:C0334488 Clear cell sarcoma of kidney childhood kidney clear cell sarcoma renal Clear cell sarcoma disease_ontology DOID:4880 kidney clear cell sarcoma DOID:4880 A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope. url:http://en.wikipedia.org/wiki/Clear-cell_sarcoma_of_the_kidney url:http://www.cancer.gov/dictionary?CdrID=44997 disease_ontology DOID:4882 obsolete pediatric soft part clear cell sarcoma true DOID:4882 neoplasm of peritoneum (disorder) peritoneal neoplasm peritoneum neoplasm disease_ontology DOID:4884 obsolete peritoneal neoplasm true DOID:4884 A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus (Coltivirus dermacentoris), which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue. ICD10CM:A93.2 MESH:D003121 SNOMEDCT_US_2023_03_01:186607005 UMLS_CUI:C0009400 Tick fever, American mountain disease_ontology DOID:4885 Colorado tick fever DOID:4885 A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus (Coltivirus dermacentoris), which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue. url:https://en.wikipedia.org/wiki/Colorado_tick_fever url:https://www.cdc.gov/coloradotickfever/index.html A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain. disease_ontology DOID:4887 obsolete Rotavirus infectious disease true DOID:4887 A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain. url:http://www.cdc.gov/rotavirus/about/symptoms.html An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough. DOID:4888 ICD10CM:A18.2 MESH:D014388 MESH:D018601 NCI:C26896 SNOMEDCT_US_2023_03_01:10893003 UMLS_CUI:C0041316 UMLS_CUI:C0242830 Tuberculous adenitis Tuberculous lymphadenopathy king's evil scrofula disease_ontology DOID:4889 lymph node tuberculosis DOID:4889 An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough. url:https://pubmed.ncbi.nlm.nih.gov/25131362/ url:https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years. DOID:0050326 GARD:6808 MESH:D020190 MIM:254770 NCI:C84796 ORDO:307 ORDO:862 SNOMEDCT_US_2023_03_01:6204001 UMLS_CUI:C0270853 Janz syndrome disease_ontology DOID:4890 Xref MGI. OMIM mapping confirmed by DO. [SN]. juvenile myoclonic epilepsy DOID:4890 A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years. url:http://en.wikipedia.org/wiki/Juvenile_myoclonic_epilepsy url:http://www.epilepsy.com/epilepsy/epilepsy_juvenilemyoclonic url:http://www.ilae-epilepsy.org/Visitors/Documents/EngelClassificationRepo A middle ear carcinoma that derives_from epithelial cells of glandular origin. NCI:C6848 UMLS_CUI:C1334758 adenocarcinoma of the middle ear disease_ontology adenocarcinoma of middle ear DOID:4892 middle ear adenocarcinoma DOID:4892 A middle ear carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C6089 UMLS_CUI:C1334760 carcinoma of the middle ear disease_ontology carcinoma of middle ear DOID:4893 middle ear carcinoma DOID:4893 A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma An ovary adenocarcinoma that arises from the rete ovarii. NCI:C40017 SNOMEDCT_US_2023_03_01:703655009 UMLS_CUI:C3840223 disease_ontology DOID:4894 rete ovarii adenocarcinoma DOID:4894 An ovary adenocarcinoma that arises from the rete ovarii. url:https://www.ncbi.nlm.nih.gov/pubmed/21139896 A female reporoductive organ benign neoplasm that is located_in the rete ovarii. NCI:C40016 UMLS_CUI:C1514909 disease_ontology DOID:4895 rete ovarii benign neoplasm DOID:4895 A female reporoductive organ benign neoplasm that is located_in the rete ovarii. url:https://www.ncbi.nlm.nih.gov/pubmed/2852648 A bile duct carcinoma that derives_from epithelial cells of glandular origin. NCI:C27813 SNOMEDCT_US_2023_03_01:70179006 UMLS_CUI:C1370800 disease_ontology DOID:4896 bile duct adenocarcinoma DOID:4896 A bile duct carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. MESH:D001650 NCI:C27814 SNOMEDCT_US_2023_03_01:70179006 UMLS_CUI:C0740277 disease_ontology DOID:4897 bile duct carcinoma DOID:4897 A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_bile_duct_cancer_69.asp adenocarcinoma in adenomatous polyp adenocarcinoma in adenomatous polyp (morphologic abnormality) disease_ontology DOID:4898 obsolete adenocarcinoma in a polyp true DOID:4898 pulmonary hemangioma disease_ontology DOID:490 hemangioma of lung DOID:490 mixed cell adenocarcinoma mixed cell adenocarcinoma (morphologic abnormality) disease_ontology DOID:4900 obsolete mixed cell adenocarcinoma true DOID:4900 NCI:C40023 UMLS_CUI:C1514429 primary peritoneal serous adenocarcinoma disease_ontology DOID:4901 peritoneal serous adenocarcinoma DOID:4901 An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C9330 SNOMEDCT_US_2023_03_01:269541000 UMLS_CUI:C0728951 Ca appendix carcinoma of appendix disease_ontology DOID:4902 appendix carcinoma DOID:4902 An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm. ICDO:8320/3 MESH:D000230 NCI:C3681 SNOMEDCT_US_2023_03_01:69028005 UMLS_CUI:C0205644 granular cell adenocarcinoma disease_ontology DOID:4903 granular cell carcinoma DOID:4903 A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm. url:http://en.wikipedia.org/wiki/Granular_cell_tumor adenocarcinoma, intestinal type (morphologic abnormality) disease_ontology DOID:4904 obsolete intestinal type carcinoma true DOID:4904 A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas. EFO:0002618 MIM:260350 NCI:C3850 SNOMEDCT_US_2023_03_01:154475002 UMLS_CUI:C0235974 Exocrine pancreas carcinoma carcinoma of pancreas disease_ontology Pancreatic carcinoma, familial exocrine cancer DOID:4905 OMIM mapping confirmed by DO. [SN]. pancreatic carcinoma DOID:4905 A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas. url:http://en.wikipedia.org/wiki/Carcinoma url:http://www.cancer.gov/cancertopics/types/pancreatic Pancreatic carcinoma, familial MESH:C535837 A small intestine carcinoma that derives_from epithelial cells of glandular origin. GARD:13090 NCI:C7888 SNOMEDCT_US_2023_03_01:424440001 UMLS_CUI:C0278803 small intestinal adenocarcinoma disease_ontology adenocarcinoma of small Intestine DOID:4906 small intestine adenocarcinoma DOID:4906 A small intestine carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A small intestine cancer that develops from epithelial cells and is located_in the small intestine. NCI:C7724 UMLS_CUI:C0238196 small intestinal carcinoma disease_ontology cancer of the small bowel small bowel cancer DOID:4907 small intestine carcinoma DOID:4907 A small intestine cancer that develops from epithelial cells and is located_in the small intestine. url:http://en.wikipedia.org/wiki/Small_intestine_cancer A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus. MESH:D001005 NCI:C9291 SNOMEDCT_US_2023_03_01:187762000 UMLS_CUI:C0279637 Ca anus carcinoma of anus disease_ontology DOID:4908 anal carcinoma DOID:4908 A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus. url:http://en.wikipedia.org/wiki/Anal_cancer An urethra cancer that derives_from epithelial cells of glandular origin. NCI:C6167 UMLS_CUI:C1336885 adenocarcinoma of the urethra disease_ontology DOID:4910 urethra adenocarcinoma DOID:4910 An urethra cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma Superficial Spreading adenocarcinoma Superficial spreading adenocarcinoma (morphologic abnormality) disease_ontology DOID:4911 obsolete superficial spreading adenocarcinoma true DOID:4911 Disseminated adenocarcinoma Disseminated adenocarcinoma (morphologic abnormality) disease_ontology DOID:4912 obsolete disseminated adenocarcinoma true DOID:4912 An esophageal carcinoma that derives_from epithelial cells of glandular origin. MESH:C562730 NCI:C4025 SNOMEDCT_US_2023_03_01:276803003 UMLS_CUI:C0279628 Oesophageal adenocarcinoma disease_ontology DOID:4914 esophagus adenocarcinoma DOID:4914 An esophageal carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI:C4150 SNOMEDCT_US_2023_03_01:47107000 UMLS_CUI:C0334314 Basophil adenocarcinoma Basophil carcinoma basophilic carcinoma disease_ontology DOID:4915 basophilic adenocarcinoma DOID:4915 ICDO:8272/3 MESH:D010911 NCI:C4536 SNOMEDCT_US_2023_03_01:128665000 UMLS_CUI:C0346300 carcinoma of the Pituitary gland disease_ontology DOID:4916 pituitary carcinoma DOID:4916 An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture. ICDO:8262/3 NCI:C4142 SNOMEDCT_US_2023_03_01:28558000 UMLS_CUI:C0334306 disease_ontology DOID:4917 villous adenocarcinoma DOID:4917 An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture. url:https://www.ncbi.nlm.nih.gov/pubmed/15489649 A renal pelvis carcinoma that derives_from epithelial cells of glandular origin. NCI:C6143 UMLS_CUI:C1335748 adenocarcinoma of the kidney Pelvis disease_ontology adenocarcinoma of renal pelvis DOID:4918 renal pelvis adenocarcinoma DOID:4918 A renal pelvis carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma DOID:12343 ICD10CM:C65 ICD9CM:189.1 NCI:C6142 NCI:C7525 SNOMEDCT_US_2023_03_01:363457009 UMLS_CUI:C0153618 UMLS_CUI:C1335749 carcinoma of kidney Pelvis malignant neoplasm of renal pelvis malignant renal Pelvis neoplasm malignant tumor of renal pelvis renal pelvis cancer disease_ontology DOID:4919 renal pelvis carcinoma DOID:4919 NCI:C27018 UMLS_CUI:C0856897 disease_ontology DOID:492 acquired hemangioma DOID:492 An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin. ICDO:8413/3 SNOMEDCT_US_2023_03_01:128686000 UMLS_CUI:C1266066 disease_ontology DOID:4920 eccrine adenocarcinoma DOID:4920 An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI:C5559 UMLS_CUI:C1334577 malignant Eccrine tumor malignant eccrine skin neoplasm disease_ontology DOID:4921 eccrine sweat gland cancer DOID:4921 A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm. DOID:6586 MESH:C537535 NCI:C4189 SNOMEDCT_US_2023_03_01:41919003 UMLS_CUI:C0334371 Juvenile Secretory carcinoma of breast juvenile breast carcinoma juvenile carcinoma of the breast disease_ontology DOID:4922 breast secretory carcinoma DOID:4922 A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm. url:https://pubmed.ncbi.nlm.nih.gov/28331758/ A thymic carcinoma that derives_from epithelial cells of glandular origin. NCI:C6459 UMLS_CUI:C1336743 adenocarcinoma of the Thymus disease_ontology DOID:4923 thymus adenocarcinoma DOID:4923 A thymic carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers. HPV-Related adenocarcinoma disease_ontology DOID:4924 obsolete human papillomavirus related adenocarcinoma true DOID:4924 A human papillomavirus related carcinoma that results_in infection, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers. url:http://www.springerlink.com/content/7652866m7198p524/fulltext.pdf A papillomavirus infectious disease that results_in infection, has_material_basis_in human papillomavirus (types 16, 18, 31, 32 or 33), which cause intraepithelial lesions that may progress to carcinomas. HPV-Related carcinoma disease_ontology DOID:4925 obsolete human papillomavirus related carcinoma true DOID:4925 A papillomavirus infectious disease that results_in infection, has_material_basis_in human papillomavirus (types 16, 18, 31, 32 or 33), which cause intraepithelial lesions that may progress to carcinomas. url:http://emedicine.medscape.com/article/219110-overview A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. MESH:D002282 NCI:C2923 SNOMEDCT_US_2023_03_01:307595008 UMLS_CUI:C0007120 Bronchioalveolar lung carcinoma Bronchioloalveolar carcinoma Minimally Invasive Lung Adenocarcinoma disease_ontology DOID:4926 bronchiolo-alveolar adenocarcinoma DOID:4926 A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. url:https://en.wikipedia.org/wiki/Adenocarcinoma_in_situ_of_the_lung url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C2923 url:https://www.ncbi.nlm.nih.gov/pubmed/15562552 url:https://www.ncbi.nlm.nih.gov/pubmed/9498957 An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts. DOID:5246 GARD:10175 MESH:D018285 NCI:C36077 SNOMEDCT_US_2023_03_01:253017000 UMLS_CUI:C0206702 Klatskin tumor Klatskin tumour Klatskin's tumour Perihilar extrahepatic bile duct carcinoma hilar cholangiocarcinoma hilar cholangiocellular carcinoma disease_ontology DOID:4927 Klatskin's tumor DOID:4927 An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts. url:https://meshb.nlm.nih.gov/record/ui?ui=D018285 A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. GARD:6042 ICD10CM:C22.1 MESH:D018281 NCI:C35417 SNOMEDCT_US_2023_03_01:1260050006 UMLS_CUI:C0345905 Intrahepatic bile duct carcinoma peripheral Cholangiocarcinoma disease_ontology DOID:4928 intrahepatic cholangiocarcinoma DOID:4928 A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. url:https://www.dana-farber.org/intrahepatic-cholangiocarcinoma/ An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma. ICDO:8211/3 MESH:D000230 NCI:C65192 SNOMEDCT_US_2023_03_01:4631006 UMLS_CUI:C0205645 tubular carcinoma disease_ontology DOID:4929 tubular adenocarcinoma DOID:4929 An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma. url:https://www.ncbi.nlm.nih.gov/books/NBK553180/ A nasal cavity carcinoma that derives_from epithelial cells of glandular origin. NCI:C6015 UMLS_CUI:C1334920 adenocarcinoma of the nasal cavity disease_ontology adenocarcinoma of nasal cavity DOID:4930 nasal cavity adenocarcinoma DOID:4930 A nasal cavity carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A nasal cavity cancer that has_material_basis_in epithelial cells. NCI:C9336 UMLS_CUI:C1377785 cancer of nasal cavity disease_ontology carcinoma of nasal cavity DOID:4931 nasal cavity carcinoma DOID:4931 A nasal cavity cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C3908 SNOMEDCT_US_2023_03_01:254609000 UMLS_CUI:C0262401 ampulla of vater cancer ampullary carcinoma carcinoma of ampulla of vater disease_ontology DOID:4932 ampulla of Vater carcinoma DOID:4932 An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin. DOID:5571 GARD:12138 ICDO:8401/3 NCI:C4169 SNOMEDCT_US_2023_03_01:57141000 UMLS_CUI:C0334346 apocrine adenocarcinoma apocrine gland carcinoma carcinoma of the Apocrine gland disease_ontology DOID:4933 apocrine carcinoma DOID:4933 An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma NCI:C6800 UMLS_CUI:C1334561 malignant Apocrine tumor disease_ontology DOID:4934 apocrine sweat gland cancer DOID:4934 Acidophil carcinoma (morphologic abnormality) Eosinophil carcinoma disease_ontology DOID:4935 obsolete acidophil carcinoma true DOID:4935 mixed acidophil-basophil carcinoma (morphologic abnormality) disease_ontology DOID:4936 obsolete mixed eosinophil-basophil carcinoma true DOID:4936 Follicular carcinoma, oxyphilic cell Hurthle cell adenocarcinoma disease_ontology DOID:4937 obsolete oxyphilic adenocarcinoma true DOID:4937 An ureter carcinoma that derives_from epithelial cells of glandular origin. NCI:C6155 UMLS_CUI:C1336873 ureteral adenocarcinoma disease_ontology adenocarcinoma of ureter DOID:4938 ureter adenocarcinoma DOID:4938 An ureter carcinoma that derives_from epithelial cells of glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma An ureter cancer that is located_in the ureter. NCI:C8993 UMLS_CUI:C0600079 ureteral carcinoma disease_ontology DOID:4939 ureter carcinoma DOID:4939 An ureter cancer that is located_in the ureter. url:http://www.mayoclinic.org/ureter-cancer/ Combined hepatocellular carcinoma and cholangiocarcinoma (disorder) Combined hepatocellular carcinoma and cholangiocarcinoma (morphologic abnormality) carcinoma of Liver and Intrahepatic biliary tract disease_ontology DOID:4942 obsolete combined hepatocellular carcinoma and cholangiocarcinoma true DOID:4942 An in situ carcinoma that derives_from epithelial cells of glandular origin. ICDO:8140/2 MESH:D065311 NCI:C4123 SNOMEDCT_US_2023_03_01:51642000 UMLS_CUI:C0334276 disease_ontology DOID:4943 adenocarcinoma in situ MESH:D065311 DOID:4943 An in situ carcinoma that derives_from epithelial cells of glandular origin. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/adenocarcinoma-in-situ NCI:C9296 UMLS_CUI:C1332166 adenocarcinoma of Cardioesophageal junction disease_ontology adenocarcinoma of gastroesophageal junction DOID:4944 gastroesophageal junction adenocarcinoma DOID:4944 A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells. DOID:5249 ICD10CM:C22.1 ICDO:8160/3 MESH:D018281 NCI:C4436 NCI:C8265 SNOMEDCT_US_2023_03_01:70179006 UMLS_CUI:C0206698 UMLS_CUI:C0280725 adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma disease_ontology DOID:4947 cholangiocarcinoma DOID:4947 A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells. url:http://cancergenome.nih.gov/cancersselected/Cholangiocarcinoma url:http://en.wikipedia.org/wiki/Cholangiocarcinoma url:http://www.cancer.gov/dictionary?CdrID=335064 A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C3844 SNOMEDCT_US_2023_03_01:93810008 UMLS_CUI:C0235782 cancer of the gallbladder carcinoma gallbladder carcinoma of gallbladder disease_ontology DOID:4948 gallbladder carcinoma DOID:4948 A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:https://www.mayoclinic.org/diseases-conditions/gallbladder-cancer/symptoms-causes/syc-20353370 SNOMEDCT_US_2023_03_01:134302009 UMLS_CUI:C1509148 Sclerosing haemangioma disease_ontology DOID:495 sclerosing hemangioma DOID:495 A poliomyelitis that results in atrophy located in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has symptom muscle weakness, has symptom muscle pain, has symptom sleep apnea, and has symptom breathing problems. GARD:4454 ICD10CM:G14 MESH:D016262 SNOMEDCT_US_2023_03_01:31097004 UMLS_CUI:C0080040 Postpolio syndrome disease_ontology DOID:4952 postpoliomyelitis syndrome DOID:4952 A poliomyelitis that results in atrophy located in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has symptom muscle weakness, has symptom muscle pain, has symptom sleep apnea, and has symptom breathing problems. url:http://en.wikipedia.org/wiki/Postpolio_syndrome url:http://www.mayoclinic.com/health/post-polio-syndrome/DS00494/DSECTION=symptoms A viral infectious disease that results in destruction located in motor neurons and has_material_basis_in Human poliovirus 1, 2, or 3, serotypes of Enterovirus coxsackiepol, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, has symptom muscle spasms, and has symptom acute flaccid paralysis. GARD:7413 ICD10CM:A80 ICD9CM:045 MESH:D011051 NCI:C35550 SNOMEDCT_US_2023_03_01:54839009 UMLS_CUI:C0032371 disease_ontology DOID:4953 poliomyelitis DOID:4953 A viral infectious disease that results in destruction located in motor neurons and has_material_basis_in Human poliovirus 1, 2, or 3, serotypes of Enterovirus coxsackiepol, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, has symptom muscle spasms, and has symptom acute flaccid paralysis. url:http://en.wikipedia.org/wiki/Poliomyelitis url:https://www.cdc.gov/polio/hcp/clinical-overview/index.html url:https://www.mayoclinic.org/diseases-conditions/polio/symptoms-causes/syc-20376512 A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has_material_basis_in abnormally proliferating cells derives_from neural crest cells. DOID:4954 NCI:C5504 SNOMEDCT_US_2023_03_01:277523004 UMLS_CUI:C0349623 UMLS_CUI:C1332887 melanocytic tumor of the CNS disease_ontology central nervous system primary melanocytic lesion primary melanocytic Lesions of the CNS primary melanocytic lesion of meninges DOID:4955 central nervous system melanocytic neoplasm DOID:4955 A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has_material_basis_in abnormally proliferating cells derives_from neural crest cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209706/ url:https://www.ncbi.nlm.nih.gov/pubmed/10403296 tumor of leptomeninges disease_ontology DOID:4956 obsolete leptomeningeal neoplasm true DOID:4956 NCI:C4660 SNOMEDCT_US_2023_03_01:277522009 UMLS_CUI:C0349622 Meningeal hemangiopericytoma hemangiopericytoma of meninges disease_ontology DOID:4957 meninges hemangiopericytoma DOID:4957 A hemangiopericytoma which is manifested in the central nervous system. disease_ontology DOID:4958 obsolete central nervous system hemangiopericytoma true DOID:4958 A hemangiopericytoma which is manifested in the central nervous system. url:http://en.wikipedia.org/wiki/Hemangiopericytoma url:https://www.ncbi.nlm.nih.gov/pubmed/1985083 An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. GARD:2150 ICD10CM:Q81.2 MESH:D016108 NCI:C84691 SNOMEDCT_US_2023_03_01:254185007 UMLS_CUI:C0079294 Dystrophic epidermolysis bullosa disease_ontology DOID:4959 epidermolysis bullosa dystrophica DOID:4959 An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. url:https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes NCI:C4754 SNOMEDCT_US_2023_03_01:128769003 UMLS_CUI:C1304508 SCH disease_ontology DOID:496 spindle cell hemangioma DOID:496 SCH A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. DOID:2356 DOID:2761 EFO:0004251 ICD10CM:D47.1 MESH:D009196 SNOMEDCT_US_2023_03_01:128925001 UMLS_CUI:C0027022 bone Marrow tumor bone marrow neoplasm malignant bone Marrow tumor malignant neoplasm of bone marrow disease_ontology DOID:4960 bone marrow cancer DOID:4960 A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. url:http://nci.nih.gov/dictionary/?CdrID=430857 A hematopoietic system disease that is located_in the bone marrow. MESH:D001855 NCI:C34433 SNOMEDCT_US_2023_03_01:127035006 UMLS_CUI:C0005956 bone marrow disorder disease_ontology DOID:4961 bone marrow disease DOID:4961 A hematopoietic system disease that is located_in the bone marrow. url:https://medlineplus.gov/bonemarrowdiseases.html An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction. ICD10CM:A18.84 MESH:D010495 SNOMEDCT_US_2023_03_01:67256000 UMLS_CUI:C0031049 tuberculous pericarditis disease_ontology DOID:4962 pericardial tuberculosis DOID:4962 An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction. url:https://pubmed.ncbi.nlm.nih.gov/23843490/ url:https://pubmed.ncbi.nlm.nih.gov/26699941/ url:https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf An anxiety disorder that involves discress but neither delusions nor hallucinations. DOID:6342 DOID:9687 ICD10CM:F34.1 ICD10CM:F48.9 MESH:D000275 MESH:D003866 MESH:D009497 NCI:C34533 NCI:C34848 NCI:C35369 SNOMEDCT_US_2023_03_01:154881002 SNOMEDCT_US_2023_03_01:78667006 SNOMEDCT_US_2023_03_01:87414006 UMLS_CUI:C0011579 UMLS_CUI:C0027932 UMLS_CUI:C0282126 Neurotic depression reactive type Neurotic depressive state Psychoneurosis depressive neurosis neurosis neurotic depression reactive depression disease_ontology DOID:4964 neurotic disorder DOID:4964 An anxiety disorder that involves discress but neither delusions nor hallucinations. url:http://en.wikipedia.org/wiki/Neurosis Adrenal Cortical hyperplasia Adrenocortical hyperplasia (disorder) disease_ontology DOID:4966 obsolete adrenocortical hyperplasia true DOID:4966 Adrenal gland hyperplasia Adrenal hypertrophy or hyperplasia (disorder) disease_ontology DOID:4967 obsolete adrenal hyperplasia true DOID:4967 GARD:7170 ICD10CM:E24.1 MESH:D009347 NCI:C84917 SNOMEDCT_US_2023_03_01:43019009 UMLS_CUI:C0027577 Nelson's syndrome disease_ontology DOID:4968 Nelson syndrome DOID:4968 A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia. GARD:8660 MEDDRA:10048608 MESH:D005862 ORDO:221117 SNOMEDCT_US_2023_03_01:36785009 UMLS_CUI:C0017494 Aphasia-angular gyrus syndrome disease_ontology DOID:4969 Gerstmann syndrome DOID:4969 A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia. url:http://en.wikipedia.org/wiki/Gerstmann_syndrome url:http://www.ninds.nih.gov/disorders/gerstmanns/gerstmanns.htm An agnosia that results in the loss of the ability to consciously recognize familiar faces. ICD10CM:R48.3 MESH:D020238 NCI:C85031 SNOMEDCT_US_2023_03_01:18358003 UMLS_CUI:C0234512 disease_ontology DOID:4970 prosopagnosia DOID:4970 An agnosia that results in the loss of the ability to consciously recognize familiar faces. url:http://en.wikipedia.org/wiki/Agnosia A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue. DOID:5737 GARD:8618 ICD10CM:D47.4 ICD10CM:D75.81 ICD9CM:238.76 ICD9CM:289.83 MESH:D055728 MIM:254450 NCI:C2862 NCI:C3248 SNOMEDCT_US_2023_03_01:128843003 SNOMEDCT_US_2023_03_01:267572005 UMLS_CUI:C0001815 UMLS_CUI:C0026987 Agnogenic myeloid metaplasia Aleukemic myelosis Megakaryocytic myelosclerosis bone Marrow Fibrosis myelosclerosis primary myelofibrosis disease_ontology DOID:4971 OMIM mapping confirmed by DO. [SN]. myelofibrosis DOID:4971 A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue. url:http://en.wikipedia.org/wiki/Myelofibrosis A myeloid neoplasm that results_in the overproduction of white blood cells. DOID:6470 MESH:D054437 NCI:C27262 SNOMEDCT_US_2023_03_01:445738007 UMLS_CUI:C1301355 Myeloproliferative/Myelodysplastic syndromes myelodysplastic myeloproliferative cancer disease_ontology myelodysplastic myeloproliferative disease DOID:4972 myelodysplastic/myeloproliferative neoplasm DOID:4972 A myeloid neoplasm that results_in the overproduction of white blood cells. url:http://www.bloodjournal.org/content/114/5/937.long url:http://www.bloodjournal.org/content/127/20/2391 url:http://www.bloodjournal.org/content/128/3/462 url:https://www.cancer.gov/types/myeloproliferative/patient/mds-mpd-treatment-pdq A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media. MESH:D000187 SNOMEDCT_US_2023_03_01:16140007 UMLS_CUI:C0001247 disease_ontology DOID:4974 actinobacillosis MESH:D000187 DOID:4974 A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media. url:http://www.sciencedirect.com/science/article/pii/073646799500066J url:https://www.merckvetmanual.com/generalized-conditions/actinobacillosis/actinobacillosis Actinobacillus infection (disorder) disease_ontology DOID:4975 obsolete Actinobacillus infectious disease true DOID:4975 MESH:D004604 NCI:C34569 SNOMEDCT_US_2023_03_01:155485008 UMLS_CUI:C0013882 disease_ontology DOID:4976 elephantiasis DOID:4976 MESH:D008209 NCI:C3207 SNOMEDCT_US_2023_03_01:266334008 UMLS_CUI:C0024236 Lymphatic edema Lymphoedema disease_ontology DOID:4977 lymphedema DOID:4977 recurrent Askin's tumor recurrent Ewing's sarcoma/peripheral primitive neuroectodermal tumor disease_ontology DOID:4978 obsolete Ewing's family recurrent tumor true DOID:4978 disease_ontology DOID:4979 obsolete recurrent primitive neuroectodermal tumor true DOID:4979 Ewing's sarcoma, metastatic disease_ontology DOID:4982 obsolete metastatic Ewing's sarcoma true DOID:4982 disease_ontology DOID:4983 obsolete metastatic Ewing's sarcoma/peripheral primitive neuroectodermal tumor true DOID:4983 NCI:C7135 UMLS_CUI:C0279980 extraosseous Ewing's tumor extraosseous Ewing's tumour extraosseous Ewings sarcoma-primitive neuroepithelial tumour disease_ontology DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor DOID:4985 A poliomyelitis that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, and has symptom muscle spasms. ICD10CM:A80.4 ICD9CM:045.2 SNOMEDCT_US_2023_03_01:14535005 UMLS_CUI:C0152998 acute nonparalytic poliomyelitis non-paralytic aseptic meningitis disease_ontology DOID:4986 nonparalytic poliomyelitis DOID:4986 A poliomyelitis that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, and has symptom muscle spasms. url:https://www.mayoclinic.org/diseases-conditions/polio/symptoms-causes/syc-20376512 relapsed Ewing's sarcoma disease_ontology DOID:4987 obsolete recurrent Ewing's sarcoma true DOID:4987 MESH:D019512 SNOMEDCT_US_2023_03_01:445507008 UMLS_CUI:C0376670 disease_ontology DOID:4988 alcoholic pancreatitis DOID:4988 A pancreas disease that is characterized by inflammation of the pancreas. EFO:0000278 ICD10CM:K85.9 MESH:D010195 MIM:167800 NCI:C3306 SNOMEDCT_US_2023_03_01:393591004 UMLS_CUI:C0030305 disease_ontology DOID:4989 pancreatitis DOID:4989 A pancreas disease that is characterized by inflammation of the pancreas. url:https://medlineplus.gov/pancreatitis.html A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. GARD:5910 ICD10CM:G25.0 MESH:D020329 MIM:PS190300 NCI:C182453 ORDO:862 SNOMEDCT_US_2023_03_01:192839001 UMLS_CUI:C0270736 benign essential tremor essential hereditary tremor shaky hand syndrome disease_ontology DOID:4990 Xref MGI. essential tremor DOID:4990 A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. url:http://en.wikipedia.org/wiki/Essential_tremor url:http://ghr.nlm.nih.gov/condition/essential-tremor DOID:4849 NCI:C6769 NCI:C7533 UMLS_CUI:C1335114 UMLS_CUI:C1336971 Astrocytic tumor of optic nerve optic tract astrocytoma disease_ontology DOID:4991 optic nerve astrocytoma DOID:4991 GARD:4107 MESH:D020339 NCI:C4537 SNOMEDCT_US_2023_03_01:254976006 UMLS_CUI:C0346326 glioma of the optic nerve disease_ontology DOID:4992 optic nerve glioma DOID:4992 An adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm. NCI:C6895 SNOMEDCT_US_2023_03_01:40293003 UMLS_CUI:C1300347 disease_ontology DOID:4993 atypical polypoid adenomyoma DOID:4993 An adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm. url:http://www.pathologyoutlines.com/topic/uterusapa.html A uterine benign neoplasm that has_material_basis_in gland and muscle components. NCI:C6338 UMLS_CUI:C1336903 adenomyoma of Corpus Uteri uterine corpus adenomyoma disease_ontology DOID:4994 adenomyoma of uterine corpus DOID:4994 A uterine benign neoplasm that has_material_basis_in gland and muscle components. url:https://www.ncbi.nlm.nih.gov/pubmed/16990713 A cervical benign neoplasm that has_material_basis_in gland and muscle components. NCI:C40231 UMLS_CUI:C1516404 disease_ontology DOID:4995 cervical adenomyoma DOID:4995 A cervical benign neoplasm that has_material_basis_in gland and muscle components. url:https://www.ncbi.nlm.nih.gov/pubmed/24582628 An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. GARD:1072 ICD10CM:Q78.3 MESH:D003966 MIM:131300 MIM:606631 NCI:C84610 SNOMEDCT_US_2023_03_01:34643004 UMLS_CUI:C0011989 Diaphyseal dysplasia Engelman's disease progressive diaphyseal dysplasia disease_ontology DOID:4997 Xref MGI. OMIM mapping confirmed by DO. [SN]. Camurati-Engelmann disease DOID:4997 An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. url:http://en.wikipedia.org/wiki/Camurati-Engelmann_disease url:http://ghr.nlm.nih.gov/condition/camurati-engelmann-disease url:http://www.ncbi.nlm.nih.gov/books/NBK1156/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1328 url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Camurati-Engelmann%20Disease A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. GARD:7801 MESH:D015826 MIM:150230 NCI:C75118 ORDO:502 SNOMEDCT_US_2023_03_01:41069008 UMLS_CUI:C0023003 Langer-Giedion syndrome Trichorhinophalangeal dysplasia type II trichorhinophalangeal syndrome type 2 disease_ontology DOID:4998 OMIM mapping confirmed by DO. [SN]. trichorhinophalangeal syndrome type II DOID:4998 A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. url:http://en.wikipedia.org/wiki/Langer-Giedion_syndrome url:http://ghr.nlm.nih.gov/condition/langer-giedion-syndrome url:http://www.healthline.com/galecontent/langer-giedion-syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=502 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1074/viewAbstract Syphilitic alopecia (disorder) disease_ontology DOID:4999 obsolete syphilitic alopecia true DOID:4999 An endocrine system disease that is located_in the thyroid. ICD10CM:E07.9 ICD9CM:246.9 MESH:D013959 NCI:C26893 SNOMEDCT_US_2023_03_01:14304000 UMLS_CUI:C0040128 disease_ontology DOID:50 thyroid gland disease DOID:50 An endocrine system disease that is located_in the thyroid. url:http://en.wikipedia.org/wiki/Thyroid Syphilitic skin disorder disease_ontology DOID:5000 obsolete cutaneous syphilis true DOID:5000 A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat. Fever, swamp disease_ontology DOID:5002 obsolete equine infectious anemia true DOID:5002 A viral infectious disease that results_in breakdown of red blood cells in horses, has_material_basis_in Equine infectious anemia virus, which is transmitted_by horse fly bite, transmitted_by deer fly bite, transmitted_by contact with saliva, milk, and body secretions, and transmitted_by contaminated needles and surgical equipment. The infection has_symptom anemia, has_symptom weakness, has_symptom swelling of the lower abdomen and legs, has_symptom weak pulse, and has_symptom irregular heartbeat. url:http://en.wikipedia.org/wiki/Equine_infectious_anemia A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones. MESH:D005058 SNOMEDCT_US_2023_03_01:190559001 UMLS_CUI:C0238117 disease_ontology DOID:5003 eunuchism DOID:5003 A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones. url:https://www.merriam-webster.com/dictionary/eunuch url:https://www.ncbi.nlm.nih.gov/mesh/?term=D005058 adult primary cancer of the Liver disease_ontology DOID:5006 obsolete adult primary liver cancer true DOID:5006 Resectable Hepatoma disease_ontology DOID:5007 obsolete resectable hepatocellular carcinoma true DOID:5007 NCI:C7004 UMLS_CUI:C1333957 hemangioma of CNS disease_ontology DOID:501 central nervous system hemangioma DOID:501 A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers. MESH:C537258 NCI:C4131 ORDO:401920 SNOMEDCT_US_2023_03_01:15619004 UMLS_CUI:C0334287 Fibrolamellar hepatocellular carcinoma Hepatocellular carcinoma, fibrolamellar Oncocytic Hepatocellular tumor disease_ontology DOID:5015 fibrolamellar carcinoma DOID:5015 A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers. url:http://www.nejm.org/doi/full/10.1056/NEJMra1001683 url:https://en.wikipedia.org/wiki/Fibrolamellar_hepatocellular_carcinoma ICDO:8174/3 NCI:C5754 SNOMEDCT_US_2023_03_01:128649001 UMLS_CUI:C1266020 Clear cell carcinoma of the Liver cells Hepatocellular carcinoma, clear cell type disease_ontology DOID:5016 hepatocellular clear cell carcinoma DOID:5016 disease_ontology DOID:5017 obsolete hepatitis virus related hepatocellular carcinoma true DOID:5017 disease_ontology DOID:5019 obsolete non-resectable hepatocellular carcinoma true DOID:5019 A central nervous system cancer that is characterized by mesenchymal tumors within the CNS that develops from meninges, has_material_basis_in abnormally proliferating cells derives_from mesoderm. Non-meningothelial mesenchymal tumor Non-meningothelial mesenchymal tumour central nervous system mesenchymal non-meningothelial tumour disease_ontology DOID:502 central nervous system mesenchymal non-meningothelial tumor DOID:502 A central nervous system cancer that is characterized by mesenchymal tumors within the CNS that develops from meninges, has_material_basis_in abnormally proliferating cells derives_from mesoderm. url:https://www.ncbi.nlm.nih.gov/pubmed/1669699 url:https://www.sciencedirect.com/science/article/pii/B978032344941000014X NCI:C27922 UMLS_CUI:C1332222 disease_ontology DOID:5022 aflatoxins-related hepatocellular carcinoma DOID:5022 NCI:C27388 SNOMEDCT_US_2023_03_01:128646008 UMLS_CUI:C1266018 Sclerosing Hepatocellular carcinoma disease_ontology DOID:5026 sclerosing hepatic carcinoma DOID:5026 relapsed Hepatoma disease_ontology DOID:5027 obsolete recurrent hepatocellular carcinoma true DOID:5027 relapsed cancer of the Liver disease_ontology DOID:5028 obsolete recurrent cancer of Liver true DOID:5028 A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite. disease_ontology DOID:5029 obsolete Alphavirus infectious disease true DOID:5029 A Togaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Alphavirus, which is transmitted_by mosquito bite. url:http://en.wikipedia.org/wiki/Alphavirus ICDO:9362/3 NCI:C6967 SNOMEDCT_US_2023_03_01:715904005 UMLS_CUI:C1367859 pineal parenchymal tumour of intermediate differentiation disease_ontology DOID:5030 pineal parenchymal tumor of intermediate differentiation DOID:5030 NCI:C8273 UMLS_CUI:C0280794 adult Pineal Parenchymal neoplasm disease_ontology DOID:5031 adult pineal parenchymal tumor DOID:5031 An endocrine gland located_in the pineal gland located in the brain. DOID:1662 DOID:4859 ICD10CM:C75.3 ICD9CM:194.4 MESH:D010871 NCI:C3328 NCI:C3573 NCI:C6965 SNOMEDCT_US_2023_03_01:127026004 SNOMEDCT_US_2023_03_01:93962006 UMLS_CUI:C0031941 UMLS_CUI:C0153655 UMLS_CUI:C1412004 Pineocytic tumor malignant Pineal Region tumor malignant tumor of pineal gland neoplasm of pineal gland neoplasm of the Pineal Region pineal body neoplasm tumor of the pineal region disease_ontology DOID:5032 pineal gland cancer DOID:5032 An endocrine gland located_in the pineal gland located in the brain. url:http://en.wikipedia.org/wiki/Pineal_gland MESH:D009379 NCI:C3252 UMLS_CUI:C0027043 benign granular cell tumor disease_ontology DOID:5039 myoblastoma DOID:5039 NCI:C5700 SNOMEDCT_US_2023_03_01:1196862008 UMLS_CUI:C1333448 granular cell tumor of esophagus granular cell tumour of oesophagus malignant granular cell esophageal tumour disease_ontology DOID:5040 malignant granular cell esophageal tumor DOID:5040 A gastrointestinal system cancer that is located_in the esophagus. DOID:10291 DOID:10292 DOID:10448 DOID:1102 DOID:1104 GARD:6383 ICD10CM:C15.3 ICD10CM:C15.4 ICD10CM:C15.5 ICD9CM:150.2 ICD9CM:150.3 ICD9CM:150.4 ICD9CM:150.5 ICD9CM:150.8 MESH:D004938 MIM:133239 NCI:C3028 NCI:C3533 NCI:C3534 NCI:C3535 NCI:C4764 SNOMEDCT_US_2023_03_01:126817006 SNOMEDCT_US_2023_03_01:187729008 SNOMEDCT_US_2023_03_01:93656003 SNOMEDCT_US_2023_03_01:93877002 SNOMEDCT_US_2023_03_01:93895004 SNOMEDCT_US_2023_03_01:94119000 UMLS_CUI:C0014859 UMLS_CUI:C0153413 UMLS_CUI:C0153414 UMLS_CUI:C0153415 UMLS_CUI:C0153416 UMLS_CUI:C0496775 Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus disease_ontology DOID:5041 esophageal cancer DOID:5041 A gastrointestinal system cancer that is located_in the esophagus. url:http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer url:http://en.wikipedia.org/wiki/Esophagus NCI:C4336 SNOMEDCT_US_2023_03_01:404041003 UMLS_CUI:C0334618 granular cell tumor, malignant malignant granular cell neoplasm malignant granular cell tumor disease_ontology DOID:5042 malignant granular cell myoblastoma DOID:5042 A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. They occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei. NCI:C40328 UMLS_CUI:C1520083 disease_ontology DOID:5043 vulvar granular cell tumor DOID:5043 A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. They occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei. url:https://en.wikipedia.org/wiki/Granular_cell_tumor url:https://www.ncbi.nlm.nih.gov/pubmed/24303488 url:https://www.ncbi.nlm.nih.gov/pubmed/27510686 NCI:C5360 UMLS_CUI:C1332845 granular cell tumor of Heart disease_ontology DOID:5044 cardiac granular cell neoplasm DOID:5044 NCI:C6601 UMLS_CUI:C1334656 granular cell tumor of mediastinum disease_ontology DOID:5046 mediastinal granular cell myoblastoma DOID:5046 A posterior pituitary gland neoplasm that arises from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. NCI:C7017 SNOMEDCT_US_2023_03_01:699331002 UMLS_CUI:C1333873 neurohypophysis granular cell tumor disease_ontology DOID:5047 granular cell tumor of the sellar region DOID:5047 A posterior pituitary gland neoplasm that arises from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. url:https://pubmed.ncbi.nlm.nih.gov/32926559/ A pituitary gland benign neoplasm that arises from the neurohypophysis. NCI:C7157 UMLS_CUI:C1334957 Posterior Pituitary tumor disease_ontology DOID:5048 posterior pituitary gland neoplasm DOID:5048 A pituitary gland benign neoplasm that arises from the neurohypophysis. url:https://pubmed.ncbi.nlm.nih.gov/33709954/ disease_ontology DOID:505 hobnail hemangioma DOID:505 MESH:D002286 UMLS_CUI:C0007125 Ehrlich tumour carcinoma Ehrlich's tumor Ehrlich's tumour disease_ontology DOID:5050 Ehrlich tumor carcinoma DOID:5050 A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain. DOID:0050062 DOID:0050064 GARD:9546 ICD10CM:A24.9 ICD9CM:025 MESH:D008554 NCI:C128336 SNOMEDCT_US_2023_03_01:428111003 UMLS_CUI:C0025229 Nightcliff gardener's disease Pseudoglanders Whitmore's disease acute and fulminating melioidosis subacute and chronic melioidosis disease_ontology DOID:5052 melioidosis DOID:5052 A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain. url:http://www.cdc.gov/melioidosis/symptoms/index.html disease_ontology DOID:5053 obsolete primary Burkholderia infectious disease true DOID:5053 disease_ontology DOID:5055 obsolete neuronal and mixed neuronal-glial tumor of cerebellum true DOID:5055 NCI:C5968 UMLS_CUI:C1332197 tumor of adult Cerebellum disease_ontology DOID:5056 adult cerebellar neoplasm DOID:5056 NCI:C5270 UMLS_CUI:C1332902 Papillary meningioma of Cerebellum disease_ontology DOID:5057 papillary meningioma of the cerebellum DOID:5057 NCI:C6909 SNOMEDCT_US_2023_03_01:399469000 UMLS_CUI:C0259786 Papillary meningioma meningioma, rhabdoid disease_ontology DOID:5058 rhabdoid meningioma DOID:5058 NCI:C5970 UMLS_CUI:C1332959 pediatric tumor of Cerebellum disease_ontology DOID:5059 childhood cerebellar neoplasm DOID:5059 A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences. MESH:D010623 SNOMEDCT_US_2023_03_01:7071007 UMLS_CUI:C0031391 PCP abuse disease_ontology DOID:5062 phencyclidine abuse DOID:5062 A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences. url:http://en.wikipedia.org/wiki/Phencyclidine ICDO:8094/3 MESH:D002281 NCI:C2922 SNOMEDCT_US_2023_03_01:37304002 UMLS_CUI:C0007118 Basisquamous cell carcinoma Metatypical carcinoma basosquamous cell carcinoma disease_ontology DOID:5063 basosquamous carcinoma DOID:5063 disease_ontology DOID:5069 obsolete uterine corpus soft tissue neoplasm true DOID:5069 A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred. ICD9CM:309 SNOMEDCT_US_2023_03_01:17226007 UMLS_CUI:C0040701 adjustment disease adjustment reaction disease_ontology DOID:507 adjustment disorder DOID:507 A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred. url:http://en.wikipedia.org/wiki/Adjustment_disorder url:http://www.mayoclinic.org/diseases-conditions/adjustment-disorders/basics/definition/con-20031704 url:http://www.nlm.nih.gov/medlineplus/ency/article/000932.htm neoplasm of body of uterus (disorder) tumor of Corpus Uteri disease_ontology DOID:5070 obsolete neoplasm of body of uterus true DOID:5070 soft tissue tumor of the CNS disease_ontology DOID:5071 obsolete central nervous system soft tissue neoplasm true DOID:5071 Gliomatosis of the meninges disease_ontology DOID:5072 obsolete meninges gliomatosis true DOID:5072 malignant Meningeal tumor malignant meningeal neoplasm (morphologic abnormality) malignant neoplasm of meninges NOS malignant neoplasm of meninges, unspecified malignant neoplasm of meninges, unspecified (disorder) malignant tumor of meninges (disorder) disease_ontology DOID:5073 obsolete malignant neoplasm of meninges true DOID:5073 A high grade glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain. DOID:0060107 ICDO:9391/3 NCI:C6770 UMLS_CUI:C1333407 Ependymal neoplasm ependymal tumors malignant ependymoma disease_ontology DOID:5074 high grade ependymoma DOID:5074 A high grade glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain. url:https://www.cancer.gov/rare-brain-spine-tumor/tumors/ependymoma GARD:10633 ICDO:9394/1 MESH:D004806 NCI:C3697 SNOMEDCT_US_2023_03_01:1623000 UMLS_CUI:C0205769 disease_ontology DOID:5075 myxopapillary ependymoma DOID:5075 MESH:D005910 NCI:C3903 SNOMEDCT_US_2023_03_01:443937008 UMLS_CUI:C0259783 mixed Neuroglial tumor mixed gliomas disease_ontology DOID:5076 mixed glioma DOID:5076 GARD:10632 ICDO:9384/1 MESH:D001254 NCI:C3696 SNOMEDCT_US_2023_03_01:449799008 UMLS_CUI:C0205768 SEGA disease_ontology DOID:5077 subependymal giant cell astrocytoma DOID:5077 SEGA A cell type benign neoplasm that has_material_basis_in glial-type cells. DOID:5606 DOID:5607 GARD:2430 ICDO:9505/1 MESH:D018303 NCI:C27362 NCI:C27363 NCI:C3788 SNOMEDCT_US_2023_03_01:87191000119100 UMLS_CUI:C0206716 UMLS_CUI:C1332202 UMLS_CUI:C1332969 CNS ganglioglioma adult ganglioglioma childhood ganglioglioma disease_ontology DOID:5078 ganglioglioma DOID:5078 A cell type benign neoplasm that has_material_basis_in glial-type cells. url:http://en.wikipedia.org/wiki/Ganglioglioma url:http://www.stjude.org/stjude/v/index.jsp?vgnextoid=7e0d061585f70110VgnVCM1000001e0215acRCRD EFO:0001422 ICD10CM:K74.60 MESH:D008103 NCI:C2951 SNOMEDCT_US_2023_03_01:19943007 UMLS_CUI:C0023890 Cirrhosis cirrhosis of liver disease_ontology DOID:5082 liver cirrhosis DOID:5082 ICD9CM:244.2 SNOMEDCT_US_2023_03_01:190279008 UMLS_CUI:C0154159 disease_ontology DOID:5083 iodine hypothyroidism DOID:5083 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine in pigs, has_material_basis_in Transmissible gastroenteritis virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom vomiting, has_symptom watery yellow diarrhea, has_symptom weight loss, and has_symptom dehydration. disease_ontology DOID:5085 obsolete transmissible gastroenteritis of swine true DOID:5085 A viral infectious disease that results_in inflammation located_in stomach and located_in intestine in pigs, has_material_basis_in Transmissible gastroenteritis virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom vomiting, has_symptom watery yellow diarrhea, has_symptom weight loss, and has_symptom dehydration. url:http://www.addl.purdue.edu/newsletters/2008/Fall/TGE.htm A viral infectious disease that results_in inflammation located_in intestine of turkeys, has_material_basis_in Turkey coronavirus, which is transmitted_by ingestion of food contaminated with feces, or transmitted_by fomites contaminated with feces. The infection has_symptom diarrhea, has_symptom anorexia, has_symptom decreased weight, and has_symptom depression. Bluecomb disease (disorder) mud fever disease_ontology DOID:5086 obsolete transmissible enteritis of turkeys true DOID:5086 A viral infectious disease that results_in inflammation located_in intestine of turkeys, has_material_basis_in Turkey coronavirus, which is transmitted_by ingestion of food contaminated with feces, or transmitted_by fomites contaminated with feces. The infection has_symptom diarrhea, has_symptom anorexia, has_symptom decreased weight, and has_symptom depression. url:http://books.google.com/books?id=oBloqeMWktMC&pg=PA300&lpg A viral infectious disease that results_in infection in cats, located_in peritoneum, has_material_basis_in Feline infectious peritonitis virus, which is transmitted_by contact with the infected cat, and transmitted_by congenital method. The infection has_symptom sneezing, has_symptom watery eyes, has_symptom nasal discharge, and has_symptom accumulation of fluid in the abdomen. disease_ontology DOID:5087 obsolete feline infectious peritonitis true DOID:5087 A viral infectious disease that results_in infection in cats, located_in peritoneum, has_material_basis_in Feline infectious peritonitis virus, which is transmitted_by contact with the infected cat, and transmitted_by congenital method. The infection has_symptom sneezing, has_symptom watery eyes, has_symptom nasal discharge, and has_symptom accumulation of fluid in the abdomen. url:http://www.vet.cornell.edu/fhc/brochures/fip.html NCI:C37265 UMLS_CUI:C1334602 disease_ontology DOID:5088 mixed epithelial stromal tumour DOID:5088 A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum. DOID:6763 NCI:C6730 NCI:C8408 SNOMEDCT_US_2023_03_01:126559003 UMLS_CUI:C1290244 UMLS_CUI:C1382025 disease_ontology DOID:5090 sternum cancer DOID:5090 A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum. url:http://www.cancer.gov/dictionary/?CdrID=482347 An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall. DOID:3937 ICD10CM:C76.1 ICD9CM:195.1 MESH:D013899 NCI:C3406 NCI:C3576 SNOMEDCT_US_2023_03_01:188361007 SNOMEDCT_US_2023_03_01:255058005 UMLS_CUI:C0039981 UMLS_CUI:C0153661 Thoracic tumor thorax cancer thorax neoplasm tumor of thorax disease_ontology DOID:5093 thoracic cancer DOID:5093 An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall. url:https://radonc.ucsf.edu/thoracic-cancers Axillary neoplasm neoplasm of axilla (disorder) disease_ontology DOID:5097 obsolete axillary cancer true DOID:5097 An ear cancer that is located_in the middle ear. NCI:C4412 SNOMEDCT_US_2023_03_01:127006003 UMLS_CUI:C0345617 neoplasm of middle ear tumor of the middle ear disease_ontology DOID:5099 middle ear cancer DOID:5099 An ear cancer that is located_in the middle ear. url:http://my.clevelandclinic.org/services/head-neck/diseases-conditions/tumors NCI:C27065 SNOMEDCT_US_2023_03_01:155260002 UMLS_CUI:C0271428 disease_ontology DOID:5100 middle ear disease DOID:5100 MESH:D004428 UMLS_CUI:C0751094 auricular cancer malignant ear neoplasm malignant tumor of ear disease_ontology DOID:5101 ear cancer DOID:5101 An ear cancer located_in the inner ear. NCI:C39784 UMLS_CUI:C1512779 disease_ontology DOID:5102 inner ear cancer DOID:5102 An ear cancer located_in the inner ear. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C39784&key=1800983797&b=1&n=null NCI:C27617 SNOMEDCT_US_2023_03_01:33793000 UMLS_CUI:C0392041 infarction of testis testicular infarction disease_ontology DOID:5104 testicular infarct DOID:5104 Achromic nevus (disorder) Nonpigmented nevus Nonpigmented nevus (morphologic abnormality) disease_ontology DOID:5107 obsolete achromic nevus true DOID:5107 A nutritional deficiency disease that is characterized by deficiency of copper, causing spastic gait and ataxia, often with anemia and neutropenia, has_symptom imbalance and jerking movements, and has_material_basis_in copper deficiency possibly due to malabsorption or excess zinc ingestion. MESH:D013540 SNOMEDCT_US_2023_03_01:78714004 UMLS_CUI:C0038981 human swayback disease_ontology DOID:5112 copper deficiency myelopathy DOID:5112 A nutritional deficiency disease that is characterized by deficiency of copper, causing spastic gait and ataxia, often with anemia and neutropenia, has_symptom imbalance and jerking movements, and has_material_basis_in copper deficiency possibly due to malabsorption or excess zinc ingestion. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4612215/ url:https://www.ncbi.nlm.nih.gov/pubmed/17036563 A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. DOID:13121 MESH:D003677 UMLS_CUI:C0011156 disease_ontology DOID:5113 nutritional deficiency disease DOID:5113 A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. url:https://medlineplus.gov/malnutrition.html A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea. disease_ontology DOID:5115 obsolete bovine virus diarrhea-mucosal disease true DOID:5115 A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea. url:http://www.inta.gov.ar/balcarce/info/documentos/ganaderia/bovinos/sanidad/enf_repro/OdeonBVDV.pdf Dermoid Cyst of the CNS disease_ontology DOID:5116 obsolete central nervous system dermoid cyst true DOID:5116 A dermoid cyst that is located_in the ovary. MESH:C562731 MIM:166950 NCI:C3856 SNOMEDCT_US_2023_03_01:189116006 UMLS_CUI:C0237020 Dermoid cyst Ovarian Dermoid Cyst disease_ontology DOID:5117 OMIM mapping confirmed by DO. [SN]. dermoid cyst of ovary DOID:5117 A dermoid cyst that is located_in the ovary. url:https://www.ncbi.nlm.nih.gov/pubmed/24056662 A cystic teratoma that is located_in the ovary. NCI:C7283 UMLS_CUI:C1335155 disease_ontology DOID:5118 ovarian cystic teratoma DOID:5118 A cystic teratoma that is located_in the ovary. url:https://www.ncbi.nlm.nih.gov/pubmed/22902841 An ovarian disease that is characterized by the presence of a fluid-filled sac and is located_in the ovary. ICD10CM:N83.2 ICD9CM:620.2 SNOMEDCT_US_2023_03_01:198586000 UMLS_CUI:C0029513 disease_ontology DOID:5119 ovarian cyst DOID:5119 An ovarian disease that is characterized by the presence of a fluid-filled sac and is located_in the ovary. url:https://en.wikipedia.org/wiki/Ovarian_cyst NCI:C39958 SNOMEDCT_US_2023_03_01:126902008 UMLS_CUI:C0346239 neoplasm of epididymis disease_ontology DOID:512 epididymal neoplasm DOID:512 A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7. disease_ontology DOID:5120 obsolete Roseolovirus infectious disease true DOID:5120 A Herpesviridae infectious disease that results_in infection in children, has_material_basis_in Human herpesvirus 6 and has_material_basis_in Human herpesvirus 7. url:http://en.wikipedia.org/wiki/Roseolovirus A thoracic benign neoplasm that derives_from smooth muscle cells and is located_in the mediastinum. NCI:C6598 UMLS_CUI:C1334659 leiomyoma of mediastinum disease_ontology DOID:5123 mediastinum leiomyoma DOID:5123 A thoracic benign neoplasm that derives_from smooth muscle cells and is located_in the mediastinum. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740108/ A fallopian tube benign neoplasm that has_material_basis_in smooth muscle cells. NCI:C40127 UMLS_CUI:C1517115 disease_ontology DOID:5124 fallopian tube leiomyoma DOID:5124 A fallopian tube benign neoplasm that has_material_basis_in smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5137476/ A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the extrahepatic bile duct. NCI:C5855 UMLS_CUI:C1333507 leiomyoma of the extrahepatic bile duct disease_ontology DOID:5125 extrahepatic bile duct leiomyoma DOID:5125 A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the extrahepatic bile duct. url:https://www.ncbi.nlm.nih.gov/pubmed/11896229 A central nervous system benign neoplasm that derives_from smooth muscle cells. NCI:C6998 UMLS_CUI:C1334382 leiomyoma of CNS disease_ontology DOID:5126 central nervous system leiomyoma DOID:5126 A central nervous system benign neoplasm that derives_from smooth muscle cells. url:https://pubmed.ncbi.nlm.nih.gov/30725665/ A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures. ICDO:8893/0 NCI:C4257 SNOMEDCT_US_2023_03_01:48897006 UMLS_CUI:C0334478 Atypical leiomyoma Pleomorphic leiomyoma Symplastic leiomyoma disease_ontology DOID:5127 bizarre leiomyoma DOID:5127 A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures. url:http://www.pathologyoutlines.com/topic/softtissuebizarreleiomyoma.html A leiomyoma that is located_in deep soft tissue. NCI:C6512 UMLS_CUI:C1333266 disease_ontology DOID:5128 deep leiomyoma DOID:5128 A leiomyoma that is located_in deep soft tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/27186256 ICD9CM:345.51 UMLS_CUI:C0154712 disease_ontology DOID:5129 simple partial epilepsy DOID:5129 NCI:C4482 SNOMEDCT_US_2023_03_01:254767008 UMLS_CUI:C0346064 Cutaneous leiomyoma leiomyoma of the skin disease_ontology DOID:5132 leiomyoma cutis DOID:5132 Smooth Muscle skin neoplasm skin tumor of smooth muscle origin (disorder) disease_ontology DOID:5133 obsolete skin tumor of smooth muscle origin true DOID:5133 A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus. NCI:C5608 UMLS_CUI:C1332266 leiomyoma of anus disease_ontology DOID:5134 anus leiomyoma DOID:5134 A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus. url:https://www.ncbi.nlm.nih.gov/pubmed/9187805 A lung benign neoplasm that derives_from some smooth muscle cell. NCI:C5660 SNOMEDCT_US_2023_03_01:707374005 UMLS_CUI:C1334447 pulmonary leiomyoma disease_ontology DOID:5136 lung leiomyoma DOID:5136 A lung benign neoplasm that derives_from some smooth muscle cell. url:https://www.ncbi.nlm.nih.gov/pubmed/26941368 A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium. NCI:C6743 UMLS_CUI:C1335380 leiomyoma of Pericardium disease_ontology DOID:5137 pericardium leiomyoma DOID:5137 A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium. url:https://www.ncbi.nlm.nih.gov/pubmed/4453980 A leiomyoma that is multiple and diffuse. ICDO:8890/1 MESH:D018231 NCI:C3748 SNOMEDCT_US_2023_03_01:1157154004 UMLS_CUI:C0206654 disease_ontology DOID:5138 leiomyomatosis DOID:5138 A leiomyoma that is multiple and diffuse. url:https://ghr.nlm.nih.gov/condition/hereditary-leiomyomatosis-and-renal-cell-cancer A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures. ICDO:8892/0 NCI:C4256 SNOMEDCT_US_2023_03_01:90955001 UMLS_CUI:C0334477 disease_ontology DOID:5139 cellular leiomyoma DOID:5139 A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures. url:http://www.pathologyoutlines.com/topic/uterusleiomyomacellular.html A gastrointestinal system benign neoplasm that is located_in the gallbladder and derives_from smooth muscle cells. NCI:C5747 UMLS_CUI:C1333745 leiomyoma of the gallbladder disease_ontology DOID:5140 gallbladder leiomyoma DOID:5140 A gastrointestinal system benign neoplasm that is located_in the gallbladder and derives_from smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/17059154 A vulvar benign neoplasm that is located_in smooth muscle cells. NCI:C40326 UMLS_CUI:C1520087 disease_ontology DOID:5142 vulvar leiomyoma DOID:5142 A vulvar benign neoplasm that is located_in smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5080524/ An intestinal benign neoplasm that derives_from smooth muscle cells and that is located_in the large bowel. NCI:C5677 SNOMEDCT_US_2023_03_01:1196826007 UMLS_CUI:C1333113 leiomyoma of large Intestine disease_ontology DOID:5143 large bowel leiomyoma DOID:5143 An intestinal benign neoplasm that derives_from smooth muscle cells and that is located_in the large bowel. url:https://www.ncbi.nlm.nih.gov/pubmed/17201349 A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the appendix. NCI:C5514 SNOMEDCT_US_2023_03_01:1196825006 UMLS_CUI:C1332327 Appendiceal leiomyoma disease_ontology DOID:5146 appendix leiomyoma DOID:5146 A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the appendix. url:https://www.ncbi.nlm.nih.gov/pubmed/7414395 A reproductive organ benign neoplasm that has_material_basis_in the dartos muscle located_in the scrotum or labia majora. NCI:C4483 SNOMEDCT_US_2023_03_01:254770007 UMLS_CUI:C0346066 Dartoic myoma disease_ontology DOID:5147 dartoic leiomyoma DOID:5147 A reproductive organ benign neoplasm that has_material_basis_in the dartos muscle located_in the scrotum or labia majora. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4483 url:https://www.ncbi.nlm.nih.gov/pubmed/27529047 NCI:C6558 SNOMEDCT_US_2023_03_01:404032008 UMLS_CUI:C1275264 disease_ontology DOID:5149 epithelioid neurofibroma DOID:5149 NCI:C5746 UMLS_CUI:C1333751 Neurofibroma of the gallbladder disease_ontology DOID:5150 neurofibroma of gallbladder DOID:5150 ICDO:9550/0 MESH:D018318 NCI:C3797 SNOMEDCT_US_2023_03_01:41252002 UMLS_CUI:C0206728 disease_ontology DOID:5151 plexiform neurofibroma DOID:5151 NCI:C41427 UMLS_CUI:C1516371 disease_ontology DOID:5152 cellular neurofibroma DOID:5152 SNOMEDCT_US_2023_03_01:734083001 UMLS_CUI:C1510961 disease_ontology DOID:5153 atypical neurofibroma DOID:5153 A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment. MESH:D001890 SNOMEDCT_US_2023_03_01:76851008 UMLS_CUI:C0006023 Enzootic encephalomyelitis disease_ontology DOID:5154 borna disease MESH:D001890 DOID:5154 A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment. url:http://www.biomedcentral.com/1471-244X/10/70 url:https://en.wikipedia.org/wiki/Borna_disease url:https://pmc.ncbi.nlm.nih.gov/articles/PMC6675037/ NCI:C6559 UMLS_CUI:C1334828 disease_ontology DOID:5155 multiple mucosal neuroma DOID:5155 NCI:C9351 UMLS_CUI:C1377913 Mesothelioma of Pleura disease_ontology DOID:5157 benign pleural mesothelioma DOID:5157 A connective tissue cancer that located_in the pleura. DOID:9917 ICD10CM:C38.4 ICD9CM:163 MESH:D010997 NCI:C3332 NCI:C3547 SNOMEDCT_US_2023_03_01:126719004 SNOMEDCT_US_2023_03_01:363433009 UMLS_CUI:C0032229 UMLS_CUI:C0153494 Pleural tumor neoplasm of pleura disease_ontology DOID:5158 pleural cancer DOID:5158 A connective tissue cancer that located_in the pleura. url:http://en.wikipedia.org/wiki/Pleural_cavity MESH:D001162 SNOMEDCT_US_2023_03_01:60625000 UMLS_CUI:C0003851 disease_ontology DOID:5160 arteriosclerosis obliterans DOID:5160 disease_ontology DOID:5161 Monckeberg arteriosclerosis DOID:5161 An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia. ICD10CM:I70 MESH:D050379 NCI:C35543 SNOMEDCT_US_2023_03_01:17941002 UMLS_CUI:C0878486 disease_ontology DOID:5162 arteriolosclerosis MESH:D050379 DOID:5162 An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia. url:https://en.wikipedia.org/wiki/Arteriolosclerosis An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus. GARD:9383 NCI:C6339 SNOMEDCT_US_2023_03_01:254877001 UMLS_CUI:C0338113 sarcoma of Corpus Uteri sarcoma of uterus disease_ontology DOID:5165 uterine corpus sarcoma DOID:5165 An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus. url:http://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient MESH:D036821 SNOMEDCT_US_2023_03_01:68738004 UMLS_CUI:C0334695 endometrial Stromal neoplasm disease_ontology DOID:5166 endometrial stromal tumor DOID:5166 An ovary sarcoma that arises from endometrial stromal tissue. NCI:C40065 UMLS_CUI:C4288544 disease_ontology DOID:5169 ovarian endometrioid stromal sarcoma DOID:5169 An ovary sarcoma that arises from endometrial stromal tissue. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609926/ A vagina sarcoma that has_material_basis_in endometrial stroma. NCI:C40270 UMLS_CUI:C3642329 disease_ontology DOID:5170 vaginal endometrial stromal sarcoma DOID:5170 A vagina sarcoma that has_material_basis_in endometrial stroma. url:https://www.ncbi.nlm.nih.gov/pubmed/24294390 A vaginal cancer that has_material_basis_in endometrial stroma. NCI:C40269 UMLS_CUI:C4289585 disease_ontology DOID:5171 vaginal endometrial stromal tumor DOID:5171 A vaginal cancer that has_material_basis_in endometrial stroma. url:https://www.ncbi.nlm.nih.gov/pubmed/24294390 An in situ carcinoma that is located_in the endometrium. ICD10CM:D07.0 SNOMEDCT_US_2023_03_01:189343006 UMLS_CUI:C0346191 carcinoma in situ of endometrium endometrial carcinoma in situ disease_ontology DOID:5172 endometrium carcinoma in situ DOID:5172 An in situ carcinoma that is located_in the endometrium. url:https://www.sciencedirect.com/science/article/pii/0002937866903917 NCI:C6951 UMLS_CUI:C1335062 Nonanaplastic renal Wilm's tumor Nonanaplastic renal Wilm's tumour renal Wilms' tumour disease_ontology nonanaplastic renal wilms tumor DOID:5176 renal Wilms' tumor DOID:5176 NCI:C38158 UMLS_CUI:C1334705 disease_ontology metachronous Wilms tumor of the kidney DOID:5178 metachronous kidney Wilms' tumor DOID:5178 NCI:C9149 UMLS_CUI:C0279611 mixed cell type kidney Wilms' tumour mixed cell type renal Wilms tumor mixed cell type renal Wilms tumour disease_ontology DOID:5179 mixed cell type kidney Wilms' tumor DOID:5179 DOID:13158 ICD10CM:C63.2 ICD9CM:187.7 NCI:C3560 NCI:C4380 SNOMEDCT_US_2023_03_01:126905005 SNOMEDCT_US_2023_03_01:93999006 UMLS_CUI:C0153604 UMLS_CUI:C0341790 Scrotal Ca Scrotal tumor malignant Scrotal neoplasm malignant tumor of scrotum malignant tumour of scrotum neoplasm of scrotum scrotum cancer disease_ontology DOID:518 scrotum neoplasm DOID:518 NCI:C9147 UMLS_CUI:C0279609 Blastema Predominant renal Wilms tumor Blastema Predominant renal Wilms tumour blastema predominant kidney Wilms' tumour blastema predominant kidney adenosarcoma disease_ontology DOID:5182 blastema predominant kidney Wilms' tumor DOID:5182 A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour. NCI:C8496 UMLS_CUI:C0677779 Hereditary Wilms tumor Hereditary Wilms tumour WT1 hereditary Wilms' tumour disease_ontology DOID:5183 hereditary Wilms' tumor DOID:5183 A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour. url:http://www.cancerindex.org/geneweb/X210202.htm WT1 A nephroblastoma that recurs over time. relapsed renal Wilms' tumor disease_ontology DOID:5184 obsolete recurrent nephroblastoma true DOID:5184 A nephroblastoma that recurs over time. url:https://health.google.com/health/ref/Wilms+tumor A nephroblastoma that results_in an unfavorable appearance under the microscope. They are characterized by a cell nuclei that tends to be very large and distorted. anaplastic renal Wilm's tumor disease_ontology anaplastic renal Wilms tumor DOID:5185 obsolete anaplastic renal Wilms' tumor true DOID:5185 A nephroblastoma that results_in an unfavorable appearance under the microscope. They are characterized by a cell nuclei that tends to be very large and distorted. url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1x_What_is_wilms_tumor_46.asp NCI:C9146 UMLS_CUI:C0279608 epithelial Predominant renal Wilms tumor epithelial Predominant renal Wilms tumour epithelial predominant Wilms' tumour epithelial predominant kidney adenosarcoma disease_ontology DOID:5189 epithelial predominant Wilms' tumor DOID:5189 ICD10CM:I77.6 MESH:D001025 NCI:C97085 SNOMEDCT_US_2023_03_01:195368003 UMLS_CUI:C0003509 disease_ontology DOID:519 aortitis DOID:519 A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney. NCI:C40236 UMLS_CUI:C1516437 disease_ontology cervical Wilms tumor DOID:5190 cervical Wilms' tumor DOID:5190 A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney. url:https://www.ncbi.nlm.nih.gov/pubmed/10620450 NCI:C9148 UMLS_CUI:C0279610 Stromal Predominant renal Wilms tumor Stromal Predominant renal Wilms tumour stromal predominant kidney Wilms' tumour disease_ontology DOID:5191 stromal predominant kidney Wilms' tumor DOID:5191 NCI:C42058 SNOMEDCT_US_2023_03_01:822950002 UMLS_CUI:C1517445 disease_ontology DOID:5193 nodular ganglioneuroblastoma DOID:5193 NCI:C42057 SNOMEDCT_US_2023_03_01:822951003 UMLS_CUI:C1517444 disease_ontology DOID:5194 intermixed schwannian stroma-rich ganglioneuroblastoma DOID:5194 NCI:C6594 UMLS_CUI:C1335387 PNS Ganglioneuroblastoma disease_ontology DOID:5195 peripheral nervous system ganglioneuroblastoma DOID:5195 A fallopian tube benign neoplasm that derives_from mesothelium. NCI:C40129 UMLS_CUI:C1517110 disease_ontology DOID:5196 fallopian tube adenomatoid tumor DOID:5196 A fallopian tube benign neoplasm that derives_from mesothelium. url:https://www.ncbi.nlm.nih.gov/pubmed/13222203 An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder. ICD9CM:593.4 SNOMEDCT_US_2023_03_01:197807001 UMLS_CUI:C0029866 disease_ontology DOID:5199 ureteral obstruction DOID:5199 An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder. url:https://www.mayoclinic.org/diseases-conditions/ureteral-obstruction/symptoms-causes/syc-20354676#:~:text=A%20ureteral%20obstruction An artery disease that is characterized by degeneration of the cells composing the aortic wall. MESH:D001018 NCI:C101253 SNOMEDCT_US_2023_03_01:47040006 UMLS_CUI:C0003493 aortic disorder disorder of the aorta disease_ontology DOID:520 aortic disease DOID:520 An artery disease that is characterized by degeneration of the cells composing the aortic wall. url:http://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/aorta.html ICD10CM:N13.9 ICD9CM:599.6 NCI:C79805 SNOMEDCT_US_2023_03_01:7163005 UMLS_CUI:C0178879 Obstructive Uropathy urinary obstruction disease_ontology DOID:5200 urinary tract obstruction DOID:5200 A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis. GARD:2400 ICD10CM:E74.19 MESH:D015319 MIM:229700 NCI:C128119 SNOMEDCT_US_2023_03_01:28183005 UMLS_CUI:C0016756 fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency disease_ontology DOID:5204 OMIM mapping confirmed by DO. [SN]. fructose-1,6-bisphosphatase deficiency DOID:5204 A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis. url:http://en.wikipedia.org/wiki/Fructose-1,6-bisphosphatase_deficiency url:http://en.wikipedia.org/wiki/Fructose_bisphosphatase_deficiency disease_ontology DOID:5205 obsolete inborn errors fructose metabolism true DOID:5205 An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm). NCI:C7286 SNOMEDCT_US_2023_03_01:399632009 UMLS_CUI:C1302569 Ovarian Monodermal teratoma disease_ontology DOID:5207 monodermal teratoma DOID:5207 An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm). url:https://pubs.rsna.org/doi/full/10.1148/radiographics.21.2.g01mr09475 A struma ovarii that is cancerous. NCI:C4291 SNOMEDCT_US_2023_03_01:18854008 UMLS_CUI:C0334525 Struma ovarii, malignant disease_ontology DOID:5208 malignant struma ovarii DOID:5208 A struma ovarii that is cancerous. url:https://www.ncbi.nlm.nih.gov/pubmed/25640097 An ovarian benign neoplasm struma ovarii that is not cancerous and that is composed either exclusively or predominantly of thyroid tissue. disease_ontology DOID:5209 Obsoleted in conjunction with obsoletion of corresponding cross-references (version): NCI:C40012 (29.08d), UMLS_CUI:C1511104 (2023AA). 'struma ovarii' is considered benign making this term redundant. obsolete benign struma ovarii true DOID:5209 An ovarian benign neoplasm struma ovarii that is not cancerous and that is composed either exclusively or predominantly of thyroid tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/25640097 A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. GARD:10307 MESH:D018981 NCI:C84615 ORDO:137 SNOMEDCT_US_2023_03_01:238049009 UMLS_CUI:C0282577 carbohydrate-deficient glycoprotein syndrome disease_ontology DOID:5212 Xref MGI. congenital disorder of glycosylation DOID:5212 A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. GARD:6102 ICD10CM:G61.81 ICD9CM:357.81 MESH:D020277 NCI:C84636 SNOMEDCT_US_2023_03_01:128209004 UMLS_CUI:C0393819 disease_ontology DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy DOID:5213 An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. url:https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/ NCI:C27062 SNOMEDCT_US_2023_03_01:23414001 UMLS_CUI:C0270922 peripheral demyelinating neuropathy disease_ontology DOID:5214 demyelinating polyneuropathy DOID:5214 A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation. Bovine ephemeral fever Ephemeral fever of cattle Three-Day Sickness Three-Day Stiffsickness disease_ontology DOID:5215 obsolete ephemeral fever true DOID:5215 A viral infectious disease that results_in infection in cattle, has_material_basis_in Bovine ephemeral fever virus, which is transmitted_by Culex, transmitted_by Anopheles, and transmitted_by Culicoides arthropods. The infection has_symptom fever, has_symptom stiffness, has_symptom lameness, has_symptom nasal discharge, has_symptom ocular discharge, has_symptom depression, has_symptom cessation of rumination, and has_symptom constipation. url:http://en.wikipedia.org/wiki/Bovine_ephemeral_fever url:http://www.cfsph.iastate.edu/Factsheets/pdfs/bovine_ephemeral_fever.pdf NCI:C36071 UMLS_CUI:C1167650 disease_ontology DOID:5221 chronic polyneuropathy DOID:5221 MESH:D004684 NCI:C35383 SNOMEDCT_US_2023_03_01:111897007 UMLS_CUI:C0338418 disease_ontology DOID:5222 acute necrotizing encephalitis DOID:5222 MESH:D007246 NCI:C3836 SNOMEDCT_US_2023_03_01:8619003 UMLS_CUI:C0021359 disease_ontology DOID:5223 infertility DOID:5223 NCI:C35796 UMLS_CUI:C1332149 disease_ontology DOID:5224 acute hemorrhagic encephalitis DOID:5224 ICD10CM:A85.8 NCI:C26761 SNOMEDCT_US_2023_03_01:20411005 UMLS_CUI:C0014040 Encephalitis lethargica von Economo disease disease_ontology DOID:5225 von Economo's disease DOID:5225 disease_ontology DOID:5226 obsolete vaginal blue nevus true DOID:5226 cellular Blue nevus of the skin cellular blue nevus (morphologic abnormality) cellular blue nevus of skin (disorder) disease_ontology DOID:5227 obsolete cellular blue nevus true DOID:5227 Common Blue nevus Common blue nevus of skin (disorder) disease_ontology Blue nevus of Jadassohn-Tieche DOID:5228 obsolete common blue nevus true DOID:5228 GARD:6169 MESH:D017121 NCI:C84754 ORDO:95159 SNOMEDCT_US_2023_03_01:111386004 UMLS_CUI:C0162569 disease_ontology DOID:5230 hepatoerythropoietic porphyria DOID:5230 disease_ontology DOID:5231 obsolete peritoneal and retroperitoneal tumors true DOID:5231 MESH:D001023 UMLS_CUI:C0003505 disease_ontology DOID:5232 aortic valve prolapse DOID:5232 ICDO:8710/3 NCI:C4221 SNOMEDCT_US_2023_03_01:128908003 UMLS_CUI:C1266111 malignant Glomus neoplasm disease_ontology DOID:5233 glomangiosarcoma DOID:5233 NCI:C36079 SNOMEDCT_US_2023_03_01:403973004 UMLS_CUI:C1304510 subungual glomus tumour disease_ontology DOID:5236 subungual glomus tumor DOID:5236 NCI:C6529 UMLS_CUI:C1332532 disease_ontology DOID:5238 benign perivascular tumor DOID:5238 disease_ontology DOID:5239 obsolete glomus tumor of uncertain malignant potential true DOID:5239 A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. disease_ontology DOID:524 obsolete central nervous system AIDS arteritis true DOID:524 A Human immunodeficiency virus infectious disease that results_in inflammation located_in wall of artery of the central nervous system, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. url:http://jnnp.bmj.com/content/80/8/831.long NCI:C39783 SNOMEDCT_US_2023_03_01:312935003 UMLS_CUI:C0730303 Capillary hemangioma of retina disease_ontology DOID:5240 retinal hemangioblastoma DOID:5240 GARD:8232 GARD:8522 ICDO:9161/1 MESH:D018325 NCI:C3801 SNOMEDCT_US_2023_03_01:81201000 UMLS_CUI:C0206734 Capillary Hemangioblastoma disease_ontology DOID:5241 hemangioblastoma DOID:5241 disease_ontology DOID:5242 obsolete resectable cholangiocellular carcinoma true DOID:5242 disease_ontology DOID:5244 obsolete visual alteration true DOID:5244 disease_ontology DOID:5245 obsolete recurrent cholangiocellular carcinoma true DOID:5245 disease_ontology DOID:5246 obsolete hilar cholangiocellular carcinoma true DOID:5246 Opisthorchis Viverrini-Related Cholangiocellular carcinoma disease_ontology DOID:5247 obsolete liver fluke-related cholangiocarcinoma true DOID:5247 disease_ontology DOID:5248 obsolete parasite-related carcinoma true DOID:5248 A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine. MESH:D020293 NCI:C84622 UMLS_CUI:C0751878 disease_ontology DOID:525 central nervous system vasculitis DOID:525 A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine. url:https://my.clevelandclinic.org/health/diseases/13205-central-nervous-system-vasculitis disease_ontology DOID:5250 obsolete non-resectable cholangiocellular carcinoma true DOID:5250 A leiomyosarcoma that is characterized by a prominent intristic inflammatory component. NCI:C27495 UMLS_CUI:C1334179 disease_ontology DOID:5251 inflammatory leiomyosarcoma DOID:5251 A leiomyosarcoma that is characterized by a prominent intristic inflammatory component. url:https://www.nature.com/articles/modpathol2017113 relapsed leiomyosarcoma disease_ontology DOID:5252 obsolete leiomyosarcoma recurrent true DOID:5252 A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma. NCI:C9428 UMLS_CUI:C1333157 disease_ontology DOID:5253 conventional leiomyosarcoma DOID:5253 A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma. url:https://www.mayoclinic.org/diseases-conditions/leiomyosarcoma/cdc-20387733 A leiomyosarcoma that is located_in the central nervous system. NCI:C6999 UMLS_CUI:C1334385 leiomyosarcoma of the CNS disease_ontology DOID:5254 central nervous system leiomyosarcoma DOID:5254 A leiomyosarcoma that is located_in the central nervous system. url:https://www.ncbi.nlm.nih.gov/pubmed/10761660 Non-metastatic leiomyosarcoma disease_ontology DOID:5255 obsolete leiomyosarcoma nonmetastatic true DOID:5255 A leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm. NCI:C27494 UMLS_CUI:C1333871 disease_ontology DOID:5258 granular cell leiomyosarcoma DOID:5258 A leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/3232754 A leiomyosarcoma and sarcoma of colon that is located_in the colon. NCI:C5494 SNOMEDCT_US_2023_03_01:1156788007 UMLS_CUI:C1333093 Colonic leiomyosarcoma disease_ontology DOID:5259 colon leiomyosarcoma DOID:5259 A leiomyosarcoma and sarcoma of colon that is located_in the colon. url:http://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands. ICD10CM:B20 ICD9CM:042 ICD9CM:042-042.99 MESH:D015658 NCI:C3108 SNOMEDCT_US_2023_03_01:86406008 UMLS_CUI:C0019693 HIV infection disease_ontology DOID:526 human immunodeficiency virus infectious disease DOID:526 A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands. url:http://en.wikipedia.org/wiki/HIV url:https://medlineplus.gov/hiv.html url:https://www.cdc.gov/hiv/about/index.html A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon. NCI:C5495 UMLS_CUI:C1333098 Colonic sarcoma disease_ontology DOID:5260 colon sarcoma DOID:5260 A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon. url:https://pubmed.ncbi.nlm.nih.gov/31243197/ NCI:C5364 UMLS_CUI:C1332848 leiomyosarcoma of Heart disease_ontology DOID:5261 heart leiomyosarcoma DOID:5261 A sarcoma and malignant neoplasm of heart that is located_in the heart. NCI:C7723 UMLS_CUI:C0238152 cardiac sarcoma sarcoma of Heart disease_ontology DOID:5262 heart sarcoma DOID:5262 A sarcoma and malignant neoplasm of heart that is located_in the heart. url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/sarcoma/cardiac-sarcoma An ovary sarcoma that arises from smooth muscle progenitors. NCI:C5234 UMLS_CUI:C1335163 leiomyosarcoma of Ovary disease_ontology DOID:5263 ovary leiomyosarcoma DOID:5263 An ovary sarcoma that arises from smooth muscle progenitors. url:https://www.ncbi.nlm.nih.gov/pubmed/22873115 A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm. ICDO:8891/3 MESH:D007890 NCI:C3700 SNOMEDCT_US_2023_03_01:42392001 UMLS_CUI:C0205815 disease_ontology DOID:5264 epithelioid leiomyosarcoma DOID:5264 A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/28288693 A leiomyosarcoma and sarcoma of lung that is located_in the lung. NCI:C5667 UMLS_CUI:C1334448 pulmonary leiomyosarcoma disease_ontology DOID:5265 lung leiomyosarcoma DOID:5265 A leiomyosarcoma and sarcoma of lung that is located_in the lung. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774417/ disease_ontology DOID:5266 obsolete leiomyosarcoma metastatic true DOID:5266 A leiomyosarcoma and sarcoma of the anus that is located_in the anus. NCI:C5599 UMLS_CUI:C1332267 leiomyosarcoma of anus disease_ontology DOID:5267 anus leiomyosarcoma DOID:5267 A leiomyosarcoma and sarcoma of the anus that is located_in the anus. url:http://www.springerlink.com/content/t57853114066u8n8/ A leiomyosarcoma that is characterized by abundant myxoid stroma. ICDO:8896/3 MESH:D007890 NCI:C3701 SNOMEDCT_US_2023_03_01:189792003 UMLS_CUI:C0205816 disease_ontology DOID:5268 myxoid leiomyosarcoma DOID:5268 A leiomyosarcoma that is characterized by abundant myxoid stroma. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/leiomyosarcoma url:https://www.ncbi.nlm.nih.gov/pubmed/26866354 A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines. NCI:C7085 SNOMEDCT_US_2023_03_01:716651004 UMLS_CUI:C0920305 leiomyosarcoma of the small Bowel disease_ontology smooth muscle connective tissue tumor DOID:5271 small intestine leiomyosarcoma DOID:5271 A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines. url:http://en.wikipedia.org/wiki/Leiomyosarcoma A sarcoma and malignant tumor of small intestine that is located_in the small intestine. NCI:C5335 UMLS_CUI:C1336007 sarcoma of the Small Intestine disease_ontology DOID:5272 small intestinal sarcoma DOID:5272 A sarcoma and malignant tumor of small intestine that is located_in the small intestine. url:http://www.cancer.gov/cancertopics/types/smallintestine NCI:C4484 SNOMEDCT_US_2023_03_01:254771006 UMLS_CUI:C0346067 leiomyosarcoma of the skin disease_ontology DOID:5273 cutaneous leiomyosarcoma DOID:5273 NCI:C4574 SNOMEDCT_US_2023_03_01:255096006 UMLS_CUI:C0346811 malignant dermis tumour malignant neoplasm of Dermis malignant tumor of dermis malignant tumour of dermis disease_ontology DOID:5274 malignant dermis tumor DOID:5274 A gallbladder sarcoma that is located_in the soft tissues of the gallbladder. NCI:C5841 UMLS_CUI:C1333746 leiomyosarcoma of the gallbladder disease_ontology DOID:5275 gallbladder leiomyosarcoma DOID:5275 A gallbladder sarcoma that is located_in the soft tissues of the gallbladder. url:http://en.wikipedia.org/wiki/Leiomyosarcoma url:https://www.ncbi.nlm.nih.gov/pubmed/2278917 NCI:C5334 SNOMEDCT_US_2023_03_01:1156786006 UMLS_CUI:C1333454 leiomyosarcoma of esophagus leiomyosarcoma of oesophagus oesophagus leiomyosarcoma disease_ontology DOID:5276 esophagus leiomyosarcoma DOID:5276 disease_ontology DOID:5278 obsolete pediatric leiomyosarcoma true DOID:5278 ICD9CM:719.08 SNOMEDCT_US_2023_03_01:156579009 UMLS_CUI:C0158157 disease_ontology DOID:528 hydrarthrosis DOID:528 NCI:C27200 SNOMEDCT_US_2023_03_01:447785000 UMLS_CUI:C0744295 disease_ontology DOID:5280 gastric leiomyosarcoma DOID:5280 malignant mesenchymal neoplasm of stomach disease_ontology DOID:5281 obsolete malignant mesenchymal neoplasm of the stomach true DOID:5281 A prostate sarcoma that is located_in the prostate. NCI:C5526 UMLS_CUI:C1335511 leiomyosarcoma of the prostate disease_ontology DOID:5282 prostate leiomyosarcoma DOID:5282 A prostate sarcoma that is located_in the prostate. url:https://academic.oup.com/jscr/article/2024/3/rjae138/7629840 A vagina sarcoma that has_material_basis_in smooth muscle. NCI:C6326 UMLS_CUI:C1336940 leiomyosarcoma of the vagina disease_ontology DOID:5283 vagina leiomyosarcoma DOID:5283 A vagina sarcoma that has_material_basis_in smooth muscle. url:https://www.ncbi.nlm.nih.gov/pubmed/25909129 NCI:C27904 disease_ontology DOID:5284 retroperitoneal leiomyosarcoma DOID:5284 A breast sarcoma that arises from smooth muscle cells. NCI:C5186 UMLS_CUI:C1332631 leiomyosarcoma of the breast disease_ontology DOID:5285 breast leiomyosarcoma DOID:5285 A breast sarcoma that arises from smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094828/ A vulvar sarcoma that has_material_basis_in smooth muscle cells. NCI:C40318 disease_ontology DOID:5286 vulvar leiomyosarcoma DOID:5286 A vulvar sarcoma that has_material_basis_in smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/26010680 A leiomyosarcoma and sarcoma of kidney that is located_in the kidney. NCI:C6183 UMLS_CUI:C1335743 leiomyosarcoma of kidney disease_ontology DOID:5287 kidney leiomyosarcoma DOID:5287 A leiomyosarcoma and sarcoma of kidney that is located_in the kidney. url:http://www.sage-hindawi.com/journals/pri/2010/652398.html A leiomyosarcoma located_in the larynx. NCI:C6022 UMLS_CUI:C1334371 leiomyosarcoma of Larynx disease_ontology DOID:5288 larynx leiomyosarcoma DOID:5288 A leiomyosarcoma located_in the larynx. url:http://findarticles.com/p/articles/mi_m0BUM/is_7_84/ai_n14920168/ A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus. NCI:C6340 SNOMEDCT_US_2023_03_01:447389009 UMLS_CUI:C0280631 leiomyosarcoma of Corpus Uteri disease_ontology DOID:5289 uterus leiomyosarcoma DOID:5289 A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus. url:http://en.wikipedia.org/wiki/Leiomyosarcoma A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. GARD:5909 ICD10CM:G24.5 ICD9CM:333.81 MESH:D001764 NCI:C118723 SNOMEDCT_US_2023_03_01:155009007 UMLS_CUI:C0005747 disease_ontology DOID:529 OMIM mapping confirmed by DO. [SN]. blepharospasm MESH:D001764 DOID:529 A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm disease_ontology DOID:5290 obsolete uterine corpus smooth muscle neoplasm true DOID:5290 disease_ontology DOID:5291 obsolete adult leiomyosarcoma true DOID:5291 A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels. NCI:C6619 UMLS_CUI:C1334660 leiomyosarcoma of mediastinum disease_ontology DOID:5292 mediastinum leiomyosarcoma DOID:5292 A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels. url:https://pubmed.ncbi.nlm.nih.gov/33776690/ url:https://pubmed.ncbi.nlm.nih.gov/34446630/ A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver. NCI:C5848 UMLS_CUI:C1333508 leiomyosarcoma of the bile duct disease_ontology DOID:5293 extrahepatic bile duct leiomyosarcoma DOID:5293 A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver. url:http://www.cancer.gov/dictionary/?CdrID=44498 url:http://www.cancer.gov/dictionary/?CdrID=46027 leiomyosarcoma of Vessels disease_ontology DOID:5294 obsolete vessel leiomyosarcoma true DOID:5294 A gastrointestinal system disease that is located_in the intestine. DOID:10759 DOID:11222 DOID:11789 DOID:8531 DOID:8558 DOID:8591 ICD10CM:K63.9 ICD9CM:569.9 MESH:D007410 NCI:C26801 SNOMEDCT_US_2023_03_01:266483008 UMLS_CUI:C0021831 disease_ontology DOID:5295 intestinal disease DOID:5295 A gastrointestinal system disease that is located_in the intestine. url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract A leiomyosarcoma and sarcoma of liver that is located_in the liver. NCI:C5756 UMLS_CUI:C1333969 leiomyosarcoma of the Liver disease_ontology DOID:5296 liver leiomyosarcoma DOID:5296 A leiomyosarcoma and sarcoma of liver that is located_in the liver. url:http://www.cancer.gov/dictionary/?CdrID=46027 A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum. NCI:C5549 SNOMEDCT_US_2023_03_01:1156783003 UMLS_CUI:C1335683 leiomyosarcoma of rectum disease_ontology DOID:5297 rectum leiomyosarcoma DOID:5297 A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum. url:http://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm. NCI:C8028 UMLS_CUI:C0279765 Clear cell carcinoma of Endometrium disease_ontology DOID:5299 endometrial clear cell adenocarcinoma DOID:5299 An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/24817975 An endocrine system disease that is located_in the pituitary gland. DOID:2445 DOID:8713 DOID:8714 ICD9CM:253.1 UMLS_CUI:C0029493 pituitary disease disease_ontology DOID:53 pituitary gland disease DOID:53 An endocrine system disease that is located_in the pituitary gland. url:http://en.wikipedia.org/wiki/Pituitary_disease An adnexa disease that is located_in the eyelid. ICD10CM:H02.9 ICD9CM:374.9 MESH:D005141 NCI:C26768 SNOMEDCT_US_2023_03_01:60113004 UMLS_CUI:C0015423 disease_ontology DOID:530 eyelid disease DOID:530 An adnexa disease that is located_in the eyelid. url:http://en.wikipedia.org/wiki/Eye_disease#H00-H06_Disorders_of_eyelid.2C_lacrimal_system_and_orbit A fallopian tube adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. NCI:C6280 UMLS_CUI:C1333591 Clear cell carcinoma of the fallopian tube disease_ontology DOID:5301 fallopian tube clear cell adenocarcinoma DOID:5301 A fallopian tube adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. url:https://www.hindawi.com/journals/criog/2015/183243/ A uterine ligament adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. NCI:C40139 UMLS_CUI:C5557431 disease_ontology DOID:5302 uterine ligament clear cell adenocarcinoma DOID:5302 A uterine ligament adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/26699941 A cervical adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. NCI:C6344 UMLS_CUI:C1332912 Clear cell carcinoma of the Cervix Uteri disease_ontology DOID:5303 cervical clear cell adenocarcinoma DOID:5303 A cervical adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/23849091 A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. NCI:C40078 SNOMEDCT_US_2023_03_01:763131005 UMLS_CUI:C1518693 disease_ontology DOID:5304 ovarian clear cell adenocarcinoma DOID:5304 A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/25398420 disease_ontology DOID:5305 obsolete malignant ovarian clear cell neoplasm true DOID:5305 A clear cell adenocarcinoma that is located_in the bladder. NCI:C6179 UMLS_CUI:C1332557 bladder Mesonephric adenocarcinoma disease_ontology clear cell adenocarcinoma of bladder DOID:5306 bladder clear cell adenocarcinoma DOID:5306 A clear cell adenocarcinoma that is located_in the bladder. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183708/ A clear cell adenocarcinoma that is located_in the urethra. NCI:C6172 UMLS_CUI:C1336886 Clear cell adenocarcinoma of the urethra disease_ontology DOID:5307 urethra clear cell adenocarcinoma DOID:5307 A clear cell adenocarcinoma that is located_in the urethra. url:https://www.ncbi.nlm.nih.gov/pubmed/25685552 NCI:C27414 UMLS_CUI:C1332246 disease_ontology DOID:5308 ampulla of Vater clear cell adenocarcinoma DOID:5308 ICDO:8562/3 NCI:C4199 SNOMEDCT_US_2023_03_01:189722008 UMLS_CUI:C0334392 disease_ontology DOID:5309 epithelial-myoepithelial carcinoma DOID:5309 A glycogen-rich carcinoma that is characterized by predominantly clear cytoplasm due to glycogen. DOID:5311 NCI:C40368 UMLS_CUI:C2012261 glycogen-rich carcinoma of breast disease_ontology DOID:5310 glycogen-rich clear cell breast carcinoma DOID:5310 A glycogen-rich carcinoma that is characterized by predominantly clear cytoplasm due to glycogen. url:https://www.ncbi.nlm.nih.gov/pubmed/24400866 disease_ontology DOID:5312 obsolete miscellaneous mesenchymal neoplasm true DOID:5312 An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva. NCI:C40320 UMLS_CUI:C1520069 disease_ontology DOID:5313 vulvar alveolar soft part sarcoma DOID:5313 An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva. url:https://www.ncbi.nlm.nih.gov/pubmed/7060986 An alveolar soft part sarcoma that recurs over time. relapsed Alveolar soft Part sarcoma disease_ontology DOID:5314 obsolete alveolar soft part sarcoma recurrent true DOID:5314 An alveolar soft part sarcoma that recurs over time. url:http://www.childrenshospital.org/az/Site564/mainpageS564P0.html An alveolar soft part sarcoma that has not spread to other parts of the body. Non-metastatic Alveolar soft Part sarcoma disease_ontology DOID:5316 obsolete alveolar soft part sarcoma nonmetastatic true DOID:5316 An alveolar soft part sarcoma that has not spread to other parts of the body. url:http://www.childrenshospital.org/az/Site564/mainpageS564P0.html An alveolar soft part sarcoma that has spread to other parts of the body. disease_ontology DOID:5317 obsolete alveolar soft part sarcoma metastatic true DOID:5317 An alveolar soft part sarcoma that has spread to other parts of the body. url:http://www.childrenshospital.org/az/Site564/mainpageS564P0.html disease_ontology DOID:5323 obsolete fallopian tube serous tumor true DOID:5323 A fallopian tube cancer that derives_from germ cells. NCI:C40130 UMLS_CUI:C1517114 disease_ontology fallopian tube germ cell neoplasm DOID:5324 fallopian tube germ cell cancer DOID:5324 A fallopian tube cancer that derives_from germ cells. url:https://www.ncbi.nlm.nih.gov/pubmed/10202679 A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1. DOID:0050536 GARD:7387 MESH:C535687 MIM:268300 NCI:C4681 ORDO:3103 SNOMEDCT_US_2023_03_01:48718006 UMLS_CUI:C0392475 LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE RBS Roberts-Sc Phocomelia Syndrome SC phocomelia syndrome disease_ontology DOID:5325 OMIM mapping confirmed by DO. [SN]. Roberts syndrome DOID:5325 A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1. url:https://ghr.nlm.nih.gov/condition/roberts-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/20101700 RBS Partial recent retinal detachment with single defect (disorder) Recent retinal detachment, partial, with single defect disease_ontology DOID:5326 obsolete Partial recent retinal detachment with single defect true DOID:5326 ICD10CM:H33.2 ICD9CM:361.9 MESH:D012163 NCI:C26874 SNOMEDCT_US_2023_03_01:155103005 UMLS_CUI:C0035305 disease_ontology DOID:5327 retinal detachment DOID:5327 Retinal detachment with defect NOS (disorder) Retinal detachment with retinal defect Retinal detachment with retinal defect (disorder) Retinal detachment with retinal defect, unspecified Unspecified retinal detachment with retinal defect (disorder) disease_ontology DOID:5328 obsolete retinal detachment and defect true DOID:5328 DOID:11024 ICD10CM:E32 ICD9CM:254 NCI:C26962 SNOMEDCT_US_2023_03_01:20673009 UMLS_CUI:C0154199 disease of thymus gland disease_ontology DOID:533 thymus gland disease DOID:533 A tooth disease located_in dental pulp. MESH:D003788 NCI:C34530 SNOMEDCT_US_2023_03_01:57203004 UMLS_CUI:C0011405 Dental pulp disorder disorder of pulp of tooth pulp disorder disease_ontology DOID:5330 dental pulp disease DOID:5330 A tooth disease located_in dental pulp. url:https://en.wikipedia.org/wiki/Pulp_%28tooth%29 url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C34530 NCI:C6357 UMLS_CUI:C1336709 Granulosa cell tumor of testis Granulosa cell tumour of testis testicular granulosa cell tumour disease_ontology DOID:5331 testicular granulosa cell tumor DOID:5331 ICD10CM:N47.2 MESH:D010263 NCI:C34893 SNOMEDCT_US_2023_03_01:155922002 UMLS_CUI:C0030483 disease_ontology DOID:5334 paraphimosis DOID:5334 disease_ontology DOID:5335 obsolete renal neoplasm with t(6;11)(p21;q12) true DOID:5335 MESH:D005882 NCI:C3948 SNOMEDCT_US_2023_03_01:71708001 UMLS_CUI:C0266919 Gingival polyp epulides polyp of Gum disease_ontology DOID:5337 epulis DOID:5337 MESH:D005886 SNOMEDCT_US_2023_03_01:54711002 UMLS_CUI:C0017567 hypertrophy of gingivae disease_ontology DOID:5338 gingival hypertrophy DOID:5338 ICD10CM:D70.4 ICD9CM:288.02 MESH:C536227 MIM:162800 NCI:C3820 SNOMEDCT_US_2023_03_01:69295006 UMLS_CUI:C0221023 Cyclic neutropenia Cyclical neutropenia Neutropenia, periodic cyclic agranulocytosis disease_ontology DOID:5339 OMIM mapping confirmed by DO. [SN]. cyclic hematopoiesis DOID:5339 disease_ontology DOID:534 obsolete persistent disorder of initiating or maintaining wakefulness true DOID:534 An amnestic disorder that involves the impaired or lost ability to memorize new things. ICD10CM:R41.1 MESH:D020324 SNOMEDCT_US_2023_03_01:88822006 UMLS_CUI:C0233795 disease_ontology DOID:5340 anterograde amnesia DOID:5340 An amnestic disorder that involves the impaired or lost ability to memorize new things. url:http://en.wikipedia.org/wiki/Amnesia NCI:C6752 UMLS_CUI:C1335420 Pineal Region Yolk Sac neoplasm disease_ontology DOID:5341 pineal region yolk sac tumor DOID:5341 An endodermal sinus tumor that occurs in children. NCI:C27364 UMLS_CUI:C1333016 childhood endodermal sinus neoplasm childhood endodermal sinus tumour paediatric Yolk Sac tumour pediatric Yolk Sac tumor disease_ontology DOID:5342 childhood endodermal sinus tumor DOID:5342 An endodermal sinus tumor that occurs in children. url:http://en.wikipedia.org/wiki/Endodermal_sinus_tumor DOID:6051 NCI:C6209 NCI:C7011 SNOMEDCT_US_2023_03_01:1197280002 UMLS_CUI:C1337040 UMLS_CUI:C1377613 Yolk Sac tumor of the CNS Yolk Sac tumour of the CNS central nervous system endodermal sinus tumour childhood central nervous system endodermal sinus neoplasm paediatric central nervous system Yolk Sac tumour pediatric central nervous system Yolk Sac tumor disease_ontology DOID:5343 central nervous system endodermal sinus tumor DOID:5343 GARD:348 NCI:C8000 UMLS_CUI:C0279708 testicular Yolk Sac neoplasm disease_ontology DOID:5344 testicular yolk sac tumor DOID:5344 NCI:C5027 UMLS_CUI:C1334625 malignant Non-Seminomatous germ cell tumor of testis disease_ontology DOID:5345 testicular non-seminomatous germ cell cancer DOID:5345 Yolk Sac tumor of mediastinum mediastinal endodermal sinus neoplasm disease_ontology DOID:5346 obsolete mediastinal endodermal sinus tumor true DOID:5346 Non-Seminomatous malignant germ cell tumor of mediastinum disease_ontology DOID:5347 obsolete mediastinal non-seminomatous germ cell cancer true DOID:5347 An endodermal sinus tumor that occurs in adults. NCI:C27241 UMLS_CUI:C1332221 adult Yolk Sac neoplasm adult endodermal sinus neoplasm disease_ontology DOID:5348 adult endodermal sinus tumor DOID:5348 An endodermal sinus tumor that occurs in adults. url:http://en.wikipedia.org/wiki/Endodermal_sinus_tumor NCI:C6285 UMLS_CUI:C0280796 central nervous system adult germ cell tumour germ cell tumor of the adult CNS germ cell tumour of the adult CNS disease_ontology DOID:5349 central nervous system adult germ cell tumor DOID:5349 A disease of mental health that involves disruption of sleep patterns. DOID:9028 ICD9CM:307.4 UMLS_CUI:C0154564 Non-organic sleep disorder disease_ontology DOID:535 sleep disorder DOID:535 A disease of mental health that involves disruption of sleep patterns. url:http://en.wikipedia.org/wiki/Sleep_disorder An ovarian primitive germ cell tumor that has_material_basis_in cells that line the yolk sac of the embryo. NCI:C8107 SNOMEDCT_US_2023_03_01:254876005 UMLS_CUI:C0346188 Endodermal sinus tumor of ovary Endodermal sinus tumour of ovary Ovarian Yolk Sac tumor Ovarian Yolk Sac tumour ovarian endodermal sinus tumour disease_ontology DOID:5350 ovarian endodermal sinus tumor DOID:5350 An ovarian primitive germ cell tumor that has_material_basis_in cells that line the yolk sac of the embryo. url:https://en.wikipedia.org/wiki/Endodermal_sinus_tumor A malignant ovarian germ cell neoplasm that has_material_basis_in primitive germ cells. NCI:C39986 UMLS_CUI:C1518727 disease_ontology DOID:5351 ovarian primitive germ cell tumor DOID:5351 A malignant ovarian germ cell neoplasm that has_material_basis_in primitive germ cells. url:https://www.ncbi.nlm.nih.gov/pubmed/24576031 A intestinal disease located in the colon. DOID:10758 MESH:D003108 SNOMEDCT_US_2023_03_01:128524007 UMLS_CUI:C0009373 colon disorder disease_ontology DOID:5353 colonic disease DOID:5353 A intestinal disease located in the colon. url:https://www.nature.com/subjects/colonic-diseases disease_ontology DOID:5354 obsolete lung PAP-AD true DOID:5354 mucinous Bronchoalveolar lung carcinoma disease_ontology DOID:5355 obsolete mucinous bronchioloalveolar lung carcinoma true DOID:5355 Non-mucinous Bronchoalveolar lung carcinoma disease_ontology DOID:5358 obsolete non-mucinous bronchioloalveolar lung carcinoma true DOID:5358 disease_ontology DOID:5359 obsolete pure BAC true DOID:5359 disease_ontology DOID:536 obsolete persistent disorder of initiating or maintaining sleep true DOID:536 disease_ontology DOID:5360 obsolete AD-BAC true DOID:5360 mixed mucinous and Non-mucinous Bronchoalveolar lung carcinoma disease_ontology DOID:5361 obsolete mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma true DOID:5361 A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity. MESH:D017573 MIM:229045 NCI:C97083 SNOMEDCT_US_2023_03_01:36949004 UMLS_CUI:C0206067 Heck disease Heck's disease Multifocal epithelial hyperplasia disease_ontology DOID:5362 OMIM mapping confirmed by DO. [SN]. focal epithelial hyperplasia DOID:5362 A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity. url:https://en.wikipedia.org/wiki/Heck%27s_disease A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has_material_basis_in chromosomal translocations. GARD:7157 ICDO:8852/3 MESH:D018208 MIM:613488 ORDO:99967 SNOMEDCT_US_2023_03_01:404069006 UMLS_CUI:C0206634 Myxoid/round cell liposarcoma disease_ontology DOID:5363 OMIM mapping confirmed by DO. [SN]. myxoid liposarcoma DOID:5363 A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has_material_basis_in chromosomal translocations. url:https://www.ncbi.nlm.nih.gov/pubmed/8913727 ICD10CM:R91.1 MESH:D003074 SNOMEDCT_US_2023_03_01:308689002 UMLS_CUI:C0009250 Coin lesion lung Coin lesion of lung disease_ontology DOID:5364 pulmonary coin lesion DOID:5364 A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. NCI:C40254 UMLS_CUI:C1516419 cervical mesonephric adenocarcinoma disease_ontology DOID:5368 Wolffian duct adenocarcinoma DOID:5368 A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. url:https://rarediseases.info.nih.gov/diseases/8680/wolffian-tumor url:https://www.ncbi.nlm.nih.gov/articles/PMC4230074/ A viral infectious disease that results_in inflammation located_in lungs, has_material_basis_in Ovine progressive pneumonia virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated milk or colostrum. The infection has_symptom coughing, has_symptom bronchial exudate, has_symptom depression, and has_symptom fever. progressive interstitial pneumonia of sheep progressive pneumonia of sheep (disorder) disease_ontology DOID:5369 obsolete ovine progressive interstitial pneumonia true DOID:5369 A viral infectious disease that results_in inflammation located_in lungs, has_material_basis_in Ovine progressive pneumonia virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated milk or colostrum. The infection has_symptom coughing, has_symptom bronchial exudate, has_symptom depression, and has_symptom fever. url:http://www.merckvetmanual.com/mvm/index.jsp?cfile=htm/bc/121505.htm A hemangiopericytoma that is manifested in the breast. NCI:C40396 UMLS_CUI:C1511313 hemangiopericytoma of the breast disease_ontology DOID:5370 breast hemangiopericytoma DOID:5370 A hemangiopericytoma that is manifested in the breast. url:https://pubmed.ncbi.nlm.nih.gov/25688313/ NCI:C5386 UMLS_CUI:C1335777 disease_ontology DOID:5373 retroperitoneal hemangiopericytoma DOID:5373 DOID:5377 GARD:9452 MESH:D018296 MIM:132600 NCI:C7368 SNOMEDCT_US_2023_03_01:274901004 UMLS_CUI:C0206711 Pilomatricoma benign pilomatricoma disease_ontology DOID:5374 OMIM mapping confirmed by DO. [SN]. pilomatrixoma MESH:D018296 DOID:5374 NCI:C7367 SNOMEDCT_US_2023_03_01:44155009 UMLS_CUI:C0859920 Hair Matrix neoplasm Hair matrix tumour disease_ontology DOID:5375 hair follicle neoplasm DOID:5375 NCI:C4114 SNOMEDCT_US_2023_03_01:307610008 UMLS_CUI:C0585475 Pilomatricoma, malignant malignant Pilomatricoma disease_ontology pilomatrix carcinoma of skin DOID:5376 skin pilomatrix carcinoma DOID:5376 ICD10CM:D58.2 NCI:C35344 SNOMEDCT_US_2023_03_01:66729008 UMLS_CUI:C0272080 Hb-D disease disease_ontology DOID:5378 hemoglobin D disease DOID:5378 GARD:2641 ICD10CM:D58.2 NCI:C35287 SNOMEDCT_US_2023_03_01:25065001 UMLS_CUI:C0238159 Hb-E disease disease_ontology DOID:5379 hemoglobin E disease DOID:5379 ICD10CM:H51.2 ICD9CM:378.86 MESH:D015835 SNOMEDCT_US_2023_03_01:49823009 UMLS_CUI:C0152134 disease_ontology DOID:538 internuclear ophthalmoplegia DOID:538 Lupus - tuberculous Lupus exedens Lupus vulgaris Lupus vulgaris (disorder) Tuberculosis - lupus NOS (disorder) lupus tuberculosis disease_ontology DOID:5380 obsolete lupus vulgaris true DOID:5380 A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma. ICDO:8160/0 MESH:D002759 NCI:C2942 SNOMEDCT_US_2023_03_01:39471001 UMLS_CUI:C0008309 Cholangioadenoma disease_ontology DOID:5381 bile duct adenoma DOID:5381 A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma. url:https://www.sciencedirect.com/topics/medicine-and-dentistry/bile-duct-adenoma A Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue. NCI:C40299 UMLS_CUI:C1511048 Bartholin gland adenoma disease_ontology DOID:5382 Bartholin's gland adenoma DOID:5382 A Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue. url:https://en.wikipedia.org/wiki/Adenoma url:https://www.ncbi.nlm.nih.gov/pubmed/18152506 A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells. ICDO:8161/0 NCI:C4129 SNOMEDCT_US_2023_03_01:83025009 UMLS_CUI:C0334285 Cystadenoma of the bile duct disease_ontology DOID:5384 bile duct cystadenoma DOID:5384 A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106371/ An adenoma that has_material_basis_in more than one cell type. ICDO:8323/0 NCI:C4157 SNOMEDCT_US_2023_03_01:89773001 UMLS_CUI:C0334323 disease_ontology DOID:5385 mixed cell adenoma DOID:5385 An adenoma that has_material_basis_in more than one cell type. url:https://www.ncbi.nlm.nih.gov/pubmed/25002356 A lung benign neoplasm that derives_from glandular epithelial cells. NCI:C4455 SNOMEDCT_US_2023_03_01:254642004 UMLS_CUI:C0345964 adenoma of lung pulmonary adenoma disease_ontology DOID:5386 lung adenoma DOID:5386 A lung benign neoplasm that derives_from glandular epithelial cells. url:https://www.lungcancer.org/find_information/publications/163-lung_cancer_101/268-types_and_staging A sensory organ benign neoplasm that is located_in the middle ear. NCI:C6834 SNOMEDCT_US_2023_03_01:734078009 UMLS_CUI:C1334759 adenoma of the middle ear disease_ontology adenoma of middle ear DOID:5387 middle ear adenoma DOID:5387 A sensory organ benign neoplasm that is located_in the middle ear. url:https://www.ncbi.nlm.nih.gov/pubmed/25741045 ICDO:8290/0 MESH:D018249 NCI:C3759 SNOMEDCT_US_2023_03_01:89439007 UMLS_CUI:C1510502 Follicular adenoma, oxyphilic cell Oncocytoma disease_ontology DOID:5389 oxyphilic adenoma DOID:5389 DOID:10868 ICD9CM:378.56 MESH:D009886 NCI:C79697 SNOMEDCT_US_2023_03_01:16110005 SNOMEDCT_US_2023_03_01:78097002 UMLS_CUI:C0029089 UMLS_CUI:C0155338 Total ophthalmoplegia extraocular muscle paralysis eye movement paralysis oculomotor paralysis disease_ontology DOID:539 ophthalmoplegia DOID:539 An adenoma that is composed_of cells with a clear cytoplasm located_in ovary. ICDO:8310/0 NCI:C4151 SNOMEDCT_US_2023_03_01:1752006 UMLS_CUI:C0334315 disease_ontology DOID:5390 clear cell adenoma DOID:5390 An adenoma that is composed_of cells with a clear cytoplasm located_in ovary. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4151 NCI:C3494 SNOMEDCT_US_2023_03_01:24482001 UMLS_CUI:C0149845 Bronchial adenoma disease_ontology adenoma of the bronchus DOID:5391 bronchus adenoma DOID:5391 ICDO:8280/0 MESH:D000239 NCI:C6780 SNOMEDCT_US_2023_03_01:21109002 UMLS_CUI:C0001433 Eosinophil adenoma disease_ontology DOID:5392 acidophil adenoma DOID:5392 NCI:C7739 UMLS_CUI:C0238814 disease_ontology DOID:5393 brain angioma DOID:5393 GARD:4508 MESH:D015175 NCI:C3342 SNOMEDCT_US_2023_03_01:367098005 UMLS_CUI:C0033375 PITUITARY ADENOMA, PROLACTIN-SECRETING Prolactinoma of Pituitary gland familial prolactinoma disease_ontology DOID:5394 OMIM mapping confirmed by DO. [SN]. prolactinoma DOID:5394 NCI:C8388 UMLS_CUI:C0854486 Secretory adenoma of the Pituitary gland disease_ontology DOID:5395 functioning pituitary adenoma DOID:5395 A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin. DOID:6272 NCI:C5962 UMLS_CUI:C1334614 Prolactin Secreting tumor of Pituitary Prolactin Secreting tumour of Pituitary Prolactin-Producing Pituitary Gland Carcinoma malignant Prolactinoma malignant prolactin producing neoplasm of pituitary gland prolactin producing pituitary tumour disease_ontology DOID:5396 prolactin producing pituitary tumor DOID:5396 A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C7910 disease_ontology DOID:5397 obsolete ductal adenoma true DOID:5397 An adenoma that is composed_of epithelial cells admixed with adipose tissue cells. ICDO:8324/0 NCI:C4159 SNOMEDCT_US_2023_03_01:22024005 UMLS_CUI:C0334325 disease_ontology DOID:5398 lipoadenoma DOID:5398 An adenoma that is composed_of epithelial cells admixed with adipose tissue cells. url:http://en.wiktionary.org/wiki/lipoadenoma url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4159 A viral infectious disease that results_in bronchioloalveolar carcinoma in ovine, located_in lung, has_material_basis_in Jaagsiekte sheep retrovirus, characterized by proliferation of the pulmonary alveolar epithelium and occlusion of the alveoli and terminal bronchioles, presenting as a collection of benign growths of grandular origin. DOID:3802 Jaagziekte (disorder) ovine pulmonary adenomatosis pulmonary adenomatosis pulmonary adenomatosis (morphologic abnormality) disease_ontology Tumor Virus Infections DOID:5399 obsolete ovine pulmonary adenomatosis true DOID:5399 A viral infectious disease that results_in bronchioloalveolar carcinoma in ovine, located_in lung, has_material_basis_in Jaagsiekte sheep retrovirus, characterized by proliferation of the pulmonary alveolar epithelium and occlusion of the alveoli and terminal bronchioles, presenting as a collection of benign growths of grandular origin. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/ovine_pulmonary_adenomatosis.pdf A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object. ICD10CM:H50.8 ICD9CM:378.7 SNOMEDCT_US_2023_03_01:194125000 UMLS_CUI:C0029831 disease_ontology DOID:540 strabismus MESH:D013285 DOID:540 A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object. url:https://en.wikipedia.org/wiki/Strabismus Trabecular adenoma Trabecular adenoma (morphologic abnormality) disease_ontology DOID:5400 obsolete trabecular adenoma true DOID:5400 An adenoma that derives_from epithelial cells which have clear cytoplasm. ICDO:8322/0 NCI:C4155 SNOMEDCT_US_2023_03_01:26638004 UMLS_CUI:C0334321 disease_ontology DOID:5401 water-clear cell adenoma DOID:5401 An adenoma that derives_from epithelial cells which have clear cytoplasm. url:https://www.pathologyoutlines.com/topic/parathyroidwaterclearadenoma.html A vaginal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin. NCI:C40256 UMLS_CUI:C1519913 disease_ontology DOID:5402 vaginal adenoma DOID:5402 A vaginal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin. url:https://en.wikipedia.org/wiki/Adenoma A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells. ICDO:8202/0 MESH:D000236 NCI:C3685 SNOMEDCT_US_2023_03_01:189580001 UMLS_CUI:C0205648 disease_ontology DOID:5403 microcystic adenoma DOID:5403 A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells. url:https://www.ncbi.nlm.nih.gov/pubmed/15559952 Atypical adenoma (morphologic abnormality) disease_ontology DOID:5404 obsolete atypical adenoma true DOID:5404 A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs. EFO:0004261 GARD:8615 ICD10CM:M88 MESH:D010001 MIM:PS167250 NCI:C3292 ORDO:280110 SNOMEDCT_US_2023_03_01:2089002 UMLS_CUI:C0029401 Paget disease of bone Paget's bone disease osseous Paget's disease osteitis deformans disease_ontology Familial Paget's disease of bone DOID:5408 Xref MGI. MESH:C538098 added from NeuroDevNet [WAK]. Paget's disease of bone DOID:5408 A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs. url:http://en.wikipedia.org/wiki/Paget%27s_disease_of_bone url:http://orthoinfo.aaos.org/topic.cfm?topic=A00076 url:http://www.mayoclinic.com/health/pagets-disease-of-bone/DS00485 url:http://www.nlm.nih.gov/medlineplus/pagetsdiseaseofbone.html url:https://pubmed.ncbi.nlm.nih.gov/37180975/ A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung. DOID:0050875 KEGG:05222 MESH:D055752 MIM:182280 NCI:C4917 SNOMEDCT_US_2023_03_01:254632001 UMLS_CUI:C0149925 disease_ontology DOID:5409 OMIM mapping confirmed by DO. [SN]. lung small cell carcinoma DOID:5409 A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung. url:http://en.wikipedia.org/wiki/Small-cell_carcinoma disease_ontology DOID:541 obsolete convergence insufficiency or palsy true DOID:541 NCI:C5670 SNOMEDCT_US_2023_03_01:707594002 UMLS_CUI:C1334452 disease_ontology DOID:5410 pulmonary neuroendocrine tumor DOID:5410 MESH:D018288 NCI:C3915 SNOMEDCT_US_2023_03_01:11010461000119101 UMLS_CUI:C0262584 oat cell carcinoma disease_ontology DOID:5411 lung oat cell carcinoma DOID:5411 NCI:C6683 UMLS_CUI:C1335099 Occult small cell carcinoma of the lung disease_ontology occult small cell carcinoma of lung DOID:5414 lung occult small cell carcinoma DOID:5414 relapsed small cell carcinoma of the lung disease_ontology DOID:5416 obsolete recurrent small cell lung cancer true DOID:5416 A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality. ICD10CM:F25 ICD9CM:295.7 MESH:D011618 NCI:C94378 SNOMEDCT_US_2023_03_01:231490005 UMLS_CUI:C0036337 disease_ontology DOID:5418 schizoaffective disorder DOID:5418 A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality. url:http://en.wikipedia.org/wiki/Schizoaffective_disorder url:http://www.nlm.nih.gov/medlineplus/ency/article/000930.htm A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. DOID:14734 ICD10CM:F20 ICD9CM:295 MESH:D012559 MIM:181500 NCI:C3362 SNOMEDCT_US_2023_03_01:58214004 UMLS_CUI:C0036341 schizophrenia-1 disease_ontology DOID:5419 Xref MGI. OMIM mapping confirmed by DO. [SN]. schizophrenia DOID:5419 A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. url:http://en.wikipedia.org/wiki/Schizophrenia A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells. NCI:C9137 UMLS_CUI:C1333125 Combined small cell carcinoma of the lung disease_ontology combined type small cell carcinoma of lung DOID:5421 lung combined type small cell carcinoma DOID:5421 A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells. url:http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma Combined carcinoma of the lung disease_ontology DOID:5422 obsolete combined carcinoma of lung true DOID:5422 Hemangioblastoma of the CNS disease_ontology DOID:5423 obsolete central nervous system hemangioblastoma true DOID:5423 An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology. MESH:D016471 MIM:608115 SNOMEDCT_US_2023_03_01:129635004 UMLS_CUI:C0085083 secondary Meig's syndrome disease_ontology DOID:5425 OMIM mapping confirmed by DO. [SN]. ovarian hyperstimulation syndrome DOID:5425 An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3205536/ An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. ICD10CM:E28.3 MESH:D016649 MIM:PS311360 NCI:C113352 ORDO:619 SNOMEDCT_US_2023_03_01:237788002 UMLS_CUI:C0085215 hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency disease_ontology DOID:5426 Xref MGI. OMIM mapping confirmed by DO. [SN]. primary ovarian insufficiency DOID:5426 An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. url:http://en.wikipedia.org/wiki/Premature_ovarian_failure url:https://pubmed.ncbi.nlm.nih.gov/27861765/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477642/ NCI:C7414 UMLS_CUI:C1336893 villous adenoma of urinary bladder disease_ontology DOID:5427 urinary bladder villous adenoma DOID:5427 NCI:C37266 UMLS_CUI:C1332559 Flat Intraepithelial Lesion of the urinary bladder disease_ontology DOID:5429 bladder flat intraepithelial lesion DOID:5429 A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. DOID:544 ICD10CM:G24 MESH:D004421 MESH:D020821 MIM:PS128100 NCI:C34563 SNOMEDCT_US_2023_03_01:15802004 SNOMEDCT_US_2023_03_01:250068003 UMLS_CUI:C0013421 UMLS_CUI:C0393593 dystonic disease disease_ontology DOID:543 dystonia MESH:D004421 DOID:543 A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. url:https://rarediseases.org/rare-diseases/dystonia/ url:https://www.mayoclinic.org/diseases-conditions/dystonia/symptoms-causes/syc-20350480 disease_ontology DOID:5430 obsolete intraurothelial neoplasia true DOID:5430 NCI:C39857 UMLS_CUI:C1511197 urinary bladder Papillary Urothelial neoplasm disease_ontology DOID:5432 bladder papillary transitional cell neoplasm DOID:5432 DOID:6120 NCI:C27883 NCI:C6192 SNOMEDCT_US_2023_03_01:733845009 UMLS_CUI:C1334282 UMLS_CUI:C1335329 Inverted papilloma of urinary tract Papillary transitional cell neoplasm of the urinary tract urinary tract inverted papilloma disease_ontology DOID:5433 urinary tract papillary transitional cell benign neoplasm DOID:5433 MESH:D012608 SNOMEDCT_US_2023_03_01:35103004 UMLS_CUI:C0036457 disease_ontology DOID:5434 scrapie DOID:5434 MESH:D016643 SNOMEDCT_US_2023_03_01:52869003 UMLS_CUI:C0085209 bovine spongiform encephalopathy disease_ontology DOID:5435 variant Creutzfeldt-Jakob disease DOID:5435 A bile duct adenoma located_in an intrahepatic bile duct. NCI:C7126 UMLS_CUI:C1331535 adenoma of the Intrahepatic bile duct disease_ontology adenoma of intrahepatic bile duct DOID:5437 intrahepatic bile duct adenoma DOID:5437 A bile duct adenoma located_in an intrahepatic bile duct. url:https://pubmed.ncbi.nlm.nih.gov/26191317/ url:https://pubmed.ncbi.nlm.nih.gov/31149539/ url:https://pubmed.ncbi.nlm.nih.gov/31798791/ A bile duct adenoma that is composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium. NCI:C5857 SNOMEDCT_US_2023_03_01:1196880004 UMLS_CUI:C1331534 adenoma of the extrahepatic bile duct disease_ontology adenoma of extrahepatic bile duct DOID:5438 extrahepatic bile duct adenoma DOID:5438 A bile duct adenoma that is composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium. url:http://www.joplink.net/prev/200803/08.html ICDO:8405/0 MESH:D000074009 NCI:C4171 SNOMEDCT_US_2023_03_01:89791006 UMLS_CUI:C0334348 disease_ontology DOID:5439 papillary hidradenoma DOID:5439 MESH:D018250 NCI:C7568 SNOMEDCT_US_2023_03_01:254719003 UMLS_CUI:C0206671 Eccrine hidradenoma Eccrine hidradenoma of skin Poroma disease_ontology DOID:5442 eccrine acrospiroma DOID:5442 NCI:C7567 SNOMEDCT_US_2023_03_01:254719003 UMLS_CUI:C1370701 Clear cell myoepithelioma disease_ontology DOID:5443 clear cell hidradenoma DOID:5443 DOID:1617 ICDO:8403/0 NCI:C4170 SNOMEDCT_US_2023_03_01:403938001 UMLS_CUI:C0334347 Eccrine spiradenoma Eccrine spiradenoma of skin benign eccrine spiradenoma disease_ontology DOID:5444 spiradenoma DOID:5444 GARD:5100 ICDO:8406/0 MESH:D000074009 NCI:C4172 SNOMEDCT_US_2023_03_01:8934006 UMLS_CUI:C0406803 papillary syringadenoma disease_ontology DOID:5445 syringocystadenoma papilliferum DOID:5445 A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time. GARD:10463 ICDO:8408/0 NCI:C4173 SNOMEDCT_US_2023_03_01:253021007 UMLS_CUI:C0334350 Eccrine papillary adenoma of skin papillary eccrine adenoma disease_ontology DOID:5446 eccrine papillary adenoma DOID:5446 A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time. url:http://pubs.sciepub.com/ajmcr/4/9/3/ url:https://www.ncbi.nlm.nih.gov/pubmed/29582790 A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. GARD:10153 MESH:D011668 MIM:PS265450 NCI:C85039 ORDO:31837 SNOMEDCT_US_2023_03_01:89420002 UMLS_CUI:C0034091 pulmonary veno-occlusive disease disease_ontology DOID:5453 OMIM has split this term into two subtypes. pulmonary venoocclusive disease DOID:5453 A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. url:https://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease/ url:https://pubmed.ncbi.nlm.nih.gov/27009171/ url:https://pubmed.ncbi.nlm.nih.gov/28118962/ url:https://pubmed.ncbi.nlm.nih.gov/32252933/ disease_ontology DOID:5455 obsolete pulmonary vascular disorder true DOID:5455 disease_ontology DOID:5456 obsolete spinal vascular disorder true DOID:5456 NCI:C6023 SNOMEDCT_US_2023_03_01:707625001 UMLS_CUI:C1334374 laryngeal neuroendocrine tumour neuroendocrine tumor of Larynx neuroendocrine tumour of Larynx disease_ontology DOID:5457 laryngeal neuroendocrine tumor DOID:5457 A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides). disease_ontology DOID:5460 obsolete contagious pleuropneumonia true DOID:5460 A mycoplasmal pneumonia that is a highly contagious infection usually associated with pleurisy of cattle, goats, and sheep, which is caused by bacteria of the genus Mycoplasma (especially M. mycoides). url:https://www.merriam-webster.com/dictionary/pleuropneumonia#medicalDictionary Eaton's agent infection (disorder) Mycoplasma infection (disorder) Mycoplasma infection with Eaton's agent Mycoplasma infection, unspecified (disorder) Mycoplasmosis (disorder) disease caused by Mycoplasma [Ambiguous] disease caused by Mycoplasma, NOS disease_ontology DOID:5461 obsolete primary Mycoplasma infectious disease true DOID:5461 A viral infectious disease that results_in infection in pigs, has_material_basis_in African swine fever virus, which is transmitted_by contact with sick animals or transmitted_by ingestion of contaminated food containing infected meat, or transmitted_by ticks of the genus Ornithodoros. The infection has_symptom fever, has_symptom reddening of the skin, has_symptom leukopenia, and has_symptom thrombocytopenia. African swine fever African swine fever (disorder) disease_ontology swine hemorrhagic fever DOID:5462 obsolete African swine fever true DOID:5462 A viral infectious disease that results_in infection in pigs, has_material_basis_in African swine fever virus, which is transmitted_by contact with sick animals or transmitted_by ingestion of contaminated food containing infected meat, or transmitted_by ticks of the genus Ornithodoros. The infection has_symptom fever, has_symptom reddening of the skin, has_symptom leukopenia, and has_symptom thrombocytopenia. url:http://en.wikipedia.org/wiki/African_swine_fever url:http://www.oie.int/eng/maladies/fiches/a_A120.htm MESH:D015834 UMLS_CUI:C0009197 disease_ontology DOID:5463 cochlear disease DOID:5463 A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium. NCI:C6120 SNOMEDCT_US_2023_03_01:418134006 UMLS_CUI:C1333148 Intraepithelial Neoplasia of Conjunctiva disease_ontology DOID:5465 conjunctival intraepithelial neoplasm DOID:5465 A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772848/ url:https://www.ncbi.nlm.nih.gov/pubmed/27584160 DOID:1750 ICD10CM:C69.0 ICD9CM:190.3 MESH:D003230 NCI:C2961 NCI:C3564 SNOMEDCT_US_2023_03_01:126996004 SNOMEDCT_US_2023_03_01:93764002 UMLS_CUI:C0009761 UMLS_CUI:C0153628 Conjunctival tumor malignant Conjunctival tumor malignant neoplasm of conjunctiva malignant tumor of conjunctiva neoplasm of conjunctiva disease_ontology DOID:5467 conjunctival cancer DOID:5467 A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree. NCI:C65198 SNOMEDCT_US_2023_03_01:128663007 UMLS_CUI:C1266038 bile duct papillomatosis disease_ontology DOID:5468 biliary papillomatosis DOID:5468 A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree. url:https://www.ncbi.nlm.nih.gov/pubmed/21988050 NCI:C37215 disease_ontology DOID:5469 biliary tract intraductal papillary mucinous neoplasm DOID:5469 disease_ontology DOID:5472 obsolete tumor of the thecoma fibroma group true DOID:5472 An ovarian benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid. NCI:C40031 UMLS_CUI:C1518729 disease_ontology DOID:5474 ovarian serous adenofibroma DOID:5474 An ovarian benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid. url:https://www.ncbi.nlm.nih.gov/pubmed/26881611 An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. NCI:C6337 UMLS_CUI:C1336901 adenofibroma of Corpus Uteri disease_ontology adenofibroma of uterine corpus DOID:5475 uterine corpus adenofibroma DOID:5475 An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. url:https://jcp.bmj.com/content/63/4/377.1.short A cervical benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. NCI:C40230 UMLS_CUI:C1516402 disease_ontology DOID:5476 cervical adenofibroma DOID:5476 A cervical benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. url:https://www.ncbi.nlm.nih.gov/pubmed/12410376 An adenofibroma that is characterized by the presence of cells with clear cytoplasm. ICDO:8313/0 MESH:D062625 NCI:C8985 SNOMEDCT_US_2023_03_01:2962009 UMLS_CUI:C0334317 disease_ontology DOID:5477 clear cell adenofibroma DOID:5477 An adenofibroma that is characterized by the presence of cells with clear cytoplasm. url:http://www.jcancer.org/v02p0094.htm url:https://www.ncbi.nlm.nih.gov/pubmed/24721826 A fallopian tube benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. NCI:C40113 UMLS_CUI:C1517109 disease_ontology DOID:5478 fallopian tube adenofibroma DOID:5478 A fallopian tube benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4246679/ An adenofibroma that is characterized by finger-like projections on histology. NCI:C8986 SNOMEDCT_US_2023_03_01:2962009 UMLS_CUI:C1377850 disease_ontology DOID:5479 papillary adenofibroma DOID:5479 An adenofibroma that is characterized by finger-like projections on histology. url:https://www.ncbi.nlm.nih.gov/pubmed/1595599 malignant hypertensive heart disease (disorder) malignant hypertensive heart disease NOS (disorder) disease_ontology DOID:548 obsolete malignant hypertensive heart disease true DOID:548 An ovarian benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by endometrial tissue. NCI:C27287 disease_ontology DOID:5480 ovarian endometrioid adenofibroma DOID:5480 An ovarian benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by endometrial tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/9631607 An ovarian benign neoplasm that is composed_of epithelial ovarian tissue. MESH:D062625 NCI:C8985 SNOMEDCT_US_2023_03_01:2962009 UMLS_CUI:C0334317 disease_ontology DOID:5482 cystadenofibroma DOID:5482 An ovarian benign neoplasm that is composed_of epithelial ovarian tissue. url:http://www.ajronline.org/cgi/content/full/182/5/1259 NCI:C6533 UMLS_CUI:C1333616 fibrous sarcoma of Synovium disease_ontology DOID:5484 fibrous synovial sarcoma DOID:5484 A synovium cancer which develops in the synovial membrane of the joints. GARD:7721 ICDO:9040/3 MESH:D013584 MIM:300813 NCI:C3400 SNOMEDCT_US_2023_03_01:63211008 UMLS_CUI:C0039101 disease_ontology DOID:5485 Xref MGI. synovial sarcoma DOID:5485 A synovium cancer which develops in the synovial membrane of the joints. url:http://en.wikipedia.org/wiki/Synovial_sarcoma url:http://www.cancer.gov/dictionary?cdrid=44626 disease_ontology DOID:5486 obsolete metastatic synovial sarcoma true DOID:5486 NCI:C4277 SNOMEDCT_US_2023_03_01:37206003 UMLS_CUI:C0334505 Synovial sarcoma with spindle cell Components Synovial sarcoma, monophasic fibrous disease_ontology DOID:5487 spindle cell synovial sarcoma DOID:5487 A synovial sarcoma that is located_in the mediastinum. NCI:C6618 UMLS_CUI:C1334681 Synovial sarcoma of mediastinum disease_ontology DOID:5488 mediastinum synovial sarcoma DOID:5488 A synovial sarcoma that is located_in the mediastinum. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2001131/ An adult sarcoma of soft tissue and synovial sarcoma that affects non-epithelial, extraskeletal tissue of the body, including the muscle, fat, fibrous tissue, vessels and peripheral nervous system. disease_ontology DOID:5489 obsolete adult synovial sarcoma true DOID:5489 An adult sarcoma of soft tissue and synovial sarcoma that affects non-epithelial, extraskeletal tissue of the body, including the muscle, fat, fibrous tissue, vessels and peripheral nervous system. url:http://sarcomahelp.org/learning_center/synovial_sarcoma.html disease_ontology DOID:5491 obsolete pediatric synovial sarcoma true DOID:5491 NCI:C4279 SNOMEDCT_US_2023_03_01:18588008 UMLS_CUI:C0334507 Biphasic sarcoma of Synovium Synovial sarcoma, biphasic disease_ontology DOID:5492 biphasic synovial sarcoma DOID:5492 relapsed Synovial sarcoma disease_ontology DOID:5493 obsolete recurrent synovial sarcoma true DOID:5493 NCI:C4278 SNOMEDCT_US_2023_03_01:56422000 UMLS_CUI:C0334506 Synovial sarcoma, epithelioid cell epithelioid Synovial sarcoma disease_ontology DOID:5494 epithelioid cell synovial sarcoma DOID:5494 NCI:C6534 UMLS_CUI:C1334801 Monophasic sarcoma of Synovium disease_ontology DOID:5495 monophasic synovial sarcoma DOID:5495 Non-metastatic Synovial sarcoma disease_ontology DOID:5496 obsolete nonmetastatic synovial sarcoma true DOID:5496 A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses. disease_ontology DOID:5497 obsolete Hepadnaviridae infectious disease true DOID:5497 A dsDNA-RT virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepadnaviridae viruses. url:http://en.wikipedia.org/wiki/Hepadnaviridae MESH:D004806 NCI:C4713 SNOMEDCT_US_2023_03_01:57706008 UMLS_CUI:C1384403 disease_ontology DOID:5500 cellular ependymoma DOID:5500 A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability. ICD10CM:B85.0 ICD9CM:132.0 SNOMEDCT_US_2023_03_01:81000006 UMLS_CUI:C0030757 Pediculosis capitis Pediculus capitis Pediculus capitis infestation head louse infestation disease_ontology DOID:5501 Pediculus humanus capitis infestation DOID:5501 A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability. url:http://en.wikipedia.org/wiki/Head-louse_infestation url:http://www.dpd.cdc.gov/dpdx/HTML/HeadLice.htm A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera. DOID:5490 DOID:5523 ICD10CM:B85.2 ICD9CM:132.9 MESH:D010373 NCI:C128401 SNOMEDCT_US_2023_03_01:74949007 UMLS_CUI:C0030756 Infestation by Pediculus Louse infestation Pediculosis + lice Pediculosis and phthirus infections Pediculosis and phthirus infestation mixed pediculosis mixed pediculosis infestation pediculosis pediculosis and phthirus infection disease_ontology DOID:5502 lice infestation DOID:5502 A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera. url:http://en.wikipedia.org/wiki/Pediculosis A high grade ependymoma that has_material_basis_in cells linking the spinal cord central canal. ICDO:9391/3 NCI:C3875 SNOMEDCT_US_2023_03_01:254949006 UMLS_CUI:C0238432 Ependymal neoplasm of the Spinal Cord Spinal ependymoma disease_ontology DOID:5503 spinal cord ependymoma DOID:5503 A high grade ependymoma that has_material_basis_in cells linking the spinal cord central canal. url:http://www.cancer.gov/dictionary?CdrID=46432 NCI:C6903 SNOMEDCT_US_2023_03_01:57706008 UMLS_CUI:C1370500 disease_ontology DOID:5504 tanycytic ependymoma DOID:5504 ICDO:9393/3 MESH:D004806 NCI:C4319 SNOMEDCT_US_2023_03_01:112686007 UMLS_CUI:C0334578 disease_ontology DOID:5505 papillary ependymoma DOID:5505 disease_ontology DOID:5507 clear cell ependymoma DOID:5507 A high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, has_material_basis_in abnormally proliferating cells derives_from ependymal cells. NCI:C5098 SNOMEDCT_US_2023_03_01:107561000119107 UMLS_CUI:C1332609 Ependymoma of the Brainstem disease_ontology DOID:5508 brain stem ependymoma DOID:5508 A high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, has_material_basis_in abnormally proliferating cells derives_from ependymal cells. url:https://en.wikipedia.org/wiki/Ependyma url:https://en.wikipedia.org/wiki/Ependymoma NCI:C8578 disease_ontology DOID:5509 childhood ependymoma DOID:5509 A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. DOID:549 DOID:550 DOID:553 DOID:554 ICD9CM:506.9 UMLS_CUI:C0041881 acute chemical fume pulmonary edema acute chemical pulmonary edema disease_ontology DOID:551 toxic pneumonitis DOID:551 A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. url:https://hazmap.nlm.nih.gov/category-details?id=306&table=tbldiseases NCI:C7169 UMLS_CUI:C1335415 disease_ontology DOID:5510 pineal dysgerminoma DOID:5510 A dysgerminoma that is located_in the ovary. NCI:C8106 SNOMEDCT_US_2023_03_01:254874008 UMLS_CUI:C0346185 Ovarian Dysgerminoma disease_ontology DOID:5511 dysgerminoma of ovary DOID:5511 A dysgerminoma that is located_in the ovary. url:http://en.wikipedia.org/wiki/Dysgerminoma url:http://www.cancer.gov/dictionary?CdrID=672835 A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever. ICD10CM:B85.1 ICD9CM:132.1 SNOMEDCT_US_2023_03_01:25188002 UMLS_CUI:C0030758 Pediculus corporis Pediculus humanus infestation body louse infestation disease_ontology DOID:5513 Pediculus humanus corporis infestation DOID:5513 A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever. url:http://www.nlm.nih.gov/medlineplus/ency/article/000838.htm A breast metaplastic carcinoma that arises from squamous epithelial cells. DOID:7300 NCI:C5177 UMLS_CUI:C1336079 SCC of breast breast primary squamous cell carcinoma primary squamous cell carcinoma of the breast disease_ontology primary squamous cell carcinoma of breast squamous cell carcinoma of breast DOID:5514 breast squamous cell carcinoma DOID:5514 A breast metaplastic carcinoma that arises from squamous epithelial cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931217/ A nasal cavity carcinoma that has_material_basis_in squamous cells. MESH:D000077195 NCI:C8192 UMLS_CUI:C0280333 squamous cell carcinoma of the nasal cavity disease_ontology squamous cell carcinoma of nasal cavity DOID:5515 nasal cavity squamous cell carcinoma DOID:5515 A nasal cavity carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A squamous cell carcinoma that is located_in the stomach. NCI:C5475 SNOMEDCT_US_2023_03_01:766980008 UMLS_CUI:C1333789 squamous cell carcinoma of stomach disease_ontology DOID:5516 gastric squamous cell carcinoma DOID:5516 A squamous cell carcinoma that is located_in the stomach. url:https://www.ncbi.nlm.nih.gov/pubmed/21113875 A stomach cancer that is located_in the stomach. EFO:0000178 NCI:C4911 SNOMEDCT_US_2023_03_01:154446008 UMLS_CUI:C0699791 cancer of the stomach carcinoma of stomach gastric carcinoma disease_ontology DOID:5517 stomach carcinoma DOID:5517 A stomach cancer that is located_in the stomach. url:http://en.wikipedia.org/wiki/Stomach_cancer A penis carcinoma that has_material_basis_in squamous cells. DOID:8008 NCI:C6979 NCI:C7729 SNOMEDCT_US_2023_03_01:403468003 UMLS_CUI:C0238348 UMLS_CUI:C1336081 Epidermoid cell carcinoma of penis disease_ontology squamous cell carcinoma of penis DOID:5518 penis squamous cell carcinoma DOID:5518 A penis carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A squamous cell carcinoma that is located_in the colon. NCI:C5490 SNOMEDCT_US_2023_03_01:766981007 UMLS_CUI:C1333100 Colonic Epidermoid carcinoma disease_ontology squamous cell carcinoma of colon DOID:5519 colon squamous cell carcinoma DOID:5519 A squamous cell carcinoma that is located_in the colon. url:https://www.ncbi.nlm.nih.gov/pubmed/10211528 A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. DOID:10509 DOID:11742 DOID:5871 MESH:D011014 NCI:C3333 SNOMEDCT_US_2023_03_01:266391003 UMLS_CUI:C0032285 acute pneumonia disease_ontology DOID:552 pneumonia DOID:552 A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. url:http://en.wikipedia.org/wiki/Pneumonia A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck. GARD:8503 MESH:D000077195 MIM:275355 NCI:C34447 SNOMEDCT_US_2023_03_01:716659002 UMLS_CUI:C1168401 carcinoma of the head and neck squamous cell carcinoma of the head and neck squamous cell carcinomas of head and neck disease_ontology DOID:5520 OMIM mapping confirmed by DO. [SN]. head and neck squamous cell carcinoma DOID:5520 A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck. url:http://en.wikipedia.org/wiki/Head_and_neck_cancer#Squamous_cell_carcinoma url:http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck url:http://www.cancer.gov/dictionary?CdrID=597171 A squamous cell carcinoma that presents as single, isolated cells with bizarre cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris. NCI:C4105 SNOMEDCT_US_2023_03_01:18048008 UMLS_CUI:C0334247 keratinizing epidermoid carcinoma squamous cell carcinoma, keratinizing disease_ontology DOID:5521 keratinizing squamous cell carcinoma DOID:5521 A squamous cell carcinoma that presents as single, isolated cells with bizarre cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris. url:http://books.google.com/books?id=TQju7e__pRIC&pg=PA1132&lpg=PA1132&dq#v=onepage&q&f=false A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma. ICDO:8083/3 NCI:C54244 SNOMEDCT_US_2023_03_01:128634009 UMLS_CUI:C1266005 Basaloid carcinoma disease_ontology DOID:5522 basaloid squamous cell carcinoma DOID:5522 A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma. url:https://www.ncbi.nlm.nih.gov/pubmed/19738459 A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis. DOID:6593 NCI:C4200 SNOMEDCT_US_2023_03_01:15176003 SNOMEDCT_US_2023_03_01:85956000 UMLS_CUI:C0334250 UMLS_CUI:C0334393 Acantholytic squamous cell carcinoma Pseudoglandular squamous carcinoma adenoacanthoma adenocarcinoma with squamous metaplasia disease_ontology DOID:5524 adenoid squamous cell carcinoma DOID:5524 A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis. url:http://en.wikipedia.org/wiki/Adenoid_squamous-cell_carcinoma An anal carcinoma that arises near the squamocolumnar junction. NCI:C9161 SNOMEDCT_US_2023_03_01:255084004 UMLS_CUI:C1412036 Epidermoid anal carcinoma disease_ontology DOID:5525 anal squamous cell carcinoma DOID:5525 An anal carcinoma that arises near the squamocolumnar junction. url:http://en.wikipedia.org/wiki/Anal_cancer A middle ear carcinoma that has_material_basis_in squamous cells. NCI:C6086 UMLS_CUI:C1334762 Epidermoid carcinoma of the middle ear disease_ontology squamous cell carcinoma of middle ear DOID:5526 middle ear squamous cell carcinoma DOID:5526 A middle ear carcinoma that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma An ampulla of Vater carcinoma that derives_from epithelial squamous cells. NCI:C27417 UMLS_CUI:C1332251 disease_ontology DOID:5527 ampulla of Vater squamous cell carcinoma DOID:5527 An ampulla of Vater carcinoma that derives_from epithelial squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A squamous cell carcinoma that is located_in the rectum. NCI:C5554 SNOMEDCT_US_2023_03_01:766979005 UMLS_CUI:C1335690 squamous carcinoma of rectum disease_ontology squamous cell carcinoma of the rectum DOID:5528 rectum squamous cell carcinoma DOID:5528 A squamous cell carcinoma that is located_in the rectum. url:https://www.ncbi.nlm.nih.gov/pubmed/25956212 A squamous cell carcinoma that is located_in the lacrimal gland. NCI:C6092 UMLS_CUI:C5447980 Epidermoid carcinoma of the lacrimal gland disease_ontology squamous cell carcinoma of lacrimal gland DOID:5529 lacrimal gland squamous cell carcinoma DOID:5529 A squamous cell carcinoma that is located_in the lacrimal gland. url:https://www.ncbi.nlm.nih.gov/pubmed/12724709 A squamous cell carcinoma that is located_in the thymus. NCI:C6455 UMLS_CUI:C1336082 Epidermoid Thymic carcinoma disease_ontology DOID:5530 thymus squamous cell carcinoma DOID:5530 A squamous cell carcinoma that is located_in the thymus. url:https://www.ncbi.nlm.nih.gov/pubmed/23235139 An ovarian carcinoma that derives_from squamous epithelial cells. DOID:5532 NCI:C40093 UMLS_CUI:C2019443 ovarian squamous cell neoplasm squamous cell carcinoma of ovary disease_ontology DOID:5531 ovarian squamous cell carcinoma DOID:5531 An ovarian carcinoma that derives_from squamous epithelial cells. url:https://www.ncbi.nlm.nih.gov/pubmed/25511544 An ovary epithelial cancer that has_material_basis_in squamous cells. disease_ontology DOID:5532 Retired NCI concept. obsolete ovarian squamous cell neoplasm true DOID:5532 An ovary epithelial cancer that has_material_basis_in squamous cells. url:https://www.ncbi.nlm.nih.gov/pubmed/25511544 An endometrial carcinoma that has_material_basis_in squamous cells. NCI:C8719 SNOMEDCT_US_2023_03_01:733359005 UMLS_CUI:C1333396 squamous cell carcinoma of Endometrium disease_ontology DOID:5533 endometrial squamous cell carcinoma DOID:5533 An endometrial carcinoma that has_material_basis_in squamous cells. url:https://www.ncbi.nlm.nih.gov/pubmed/24615329 A squamous cell carcinoma that is located_in the renal pelvis. NCI:C7732 UMLS_CUI:C0238409 Epidermoid carcinoma of the kidney Pelvis disease_ontology squamous cell carcinoma of renal pelvis DOID:5534 renal pelvis squamous cell carcinoma DOID:5534 A squamous cell carcinoma that is located_in the renal pelvis. url:https://www.ncbi.nlm.nih.gov/pubmed/24493112 A squamous cell carcinoma that is located_in the gallbladder. NCI:C9170 UMLS_CUI:C0279658 Epidermoid gallbladder carcinoma disease_ontology squamous cell carcinoma of the gallbladder DOID:5535 gallbladder squamous cell carcinoma DOID:5535 A squamous cell carcinoma that is located_in the gallbladder. url:https://www.ncbi.nlm.nih.gov/pubmed/26236536 NCI:C27084 SNOMEDCT_US_2023_03_01:10288008 UMLS_CUI:C0349656 spindle cell (sarcomatoid) squamous cell carcinoma spindle cell (sarcomatoid) squamous cell skin carcinoma spindle cell squamous carcinoma of skin spindle cell squamous cell carcinoma squamous cell carcinoma, sarcomatoid disease_ontology DOID:5536 sarcomatoid squamous cell skin carcinoma DOID:5536 A squamous cell carcinoma that is located_in the bile duct. NCI:C5777 UMLS_CUI:C0861861 bile duct squamous cell carcinoma disease_ontology DOID:5537 squamous cell bile duct carcinoma DOID:5537 A squamous cell carcinoma that is located_in the bile duct. url:https://www.ncbi.nlm.nih.gov/pubmed/15767732 A squamous cell carcinoma that is located_in the external ear. NCI:C6083 UMLS_CUI:C1333494 Epidermoid carcinoma of the External ear disease_ontology squamous cell carcinoma of external ear DOID:5538 external ear squamous cell carcinoma DOID:5538 A squamous cell carcinoma that is located_in the external ear. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2459330/ A squamous cell carcinoma that is located_in the ureter. NCI:C6154 UMLS_CUI:C1336879 ureteral Epidermoid carcinoma disease_ontology DOID:5539 ureter squamous cell carcinoma DOID:5539 A squamous cell carcinoma that is located_in the ureter. url:https://www.ncbi.nlm.nih.gov/pubmed/17574059 A fallopian tube carcinoma that derives_from squamous epithelial cells. NCI:C6282 UMLS_CUI:C1333596 squamous cell carcinoma of the fallopian tube disease_ontology DOID:5540 fallopian tube squamous cell carcinoma DOID:5540 A fallopian tube carcinoma that derives_from squamous epithelial cells. url:https://www.ncbi.nlm.nih.gov/pubmed/22707217 NCI:C5603 UMLS_CUI:C1332273 anal neuroendocrine tumour neuroendocrine tumor of anus neuroendocrine tumour of anus disease_ontology DOID:5545 anal neuroendocrine tumor DOID:5545 A bone cancer that is located_in the femur. MESH:D005266 SNOMEDCT_US_2023_03_01:126583006 UMLS_CUI:C0015807 cancer of the femur neoplasm of femur disease_ontology femoral neoplasm DOID:5546 femoral cancer DOID:5546 A bone cancer that is located_in the femur. url:https://pubmed.ncbi.nlm.nih.gov/35402113/ A choriocarcinoma that is located_in the pulmonary artery. NCI:C5381 UMLS_CUI:C1335571 Syncytioma of pulmonary artery disease_ontology DOID:5547 pulmonary artery choriocarcinoma DOID:5547 A choriocarcinoma that is located_in the pulmonary artery. url:https://www.ncbi.nlm.nih.gov/pubmed/11834687 Choriocarcinoma of CNS disease_ontology DOID:5549 obsolete CNS choriocarcinoma true DOID:5549 A malignant ovarian germ cell neoplasm that has_material_basis_in trophoblastic cells. NCI:C4515 SNOMEDCT_US_2023_03_01:254870004 UMLS_CUI:C0346181 Ovarian Choriocarcinoma disease_ontology DOID:5550 choriocarcinoma of ovary DOID:5550 A malignant ovarian germ cell neoplasm that has_material_basis_in trophoblastic cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129104/ A choriocarcinoma that is located_in the testis. NCI:C7733 SNOMEDCT_US_2023_03_01:147371000119101 UMLS_CUI:C0238449 testicular Choriocarcinoma disease_ontology DOID:5551 choriocarcinoma of the testis DOID:5551 A choriocarcinoma that is located_in the testis. url:https://www.ncbi.nlm.nih.gov/pubmed/24949806 Choriocarcinoma of mediastinum disease_ontology DOID:5552 obsolete mediastinum choriocarcinoma true DOID:5552 NCI:C6759 UMLS_CUI:C1335414 Pineal Choriocarcinoma disease_ontology DOID:5553 pineal region choriocarcinoma DOID:5553 NCI:C9063 SNOMEDCT_US_2023_03_01:713646001 UMLS_CUI:C0855197 malignant germ cell tumor of testis disease_ontology DOID:5556 testicular malignant germ cell cancer DOID:5556 A testicular cancer that has_material_basis_in germ cells. MESH:C563236 MIM:273300 MIM:300228 NCI:C8591 ORDO:3636504 SNOMEDCT_US_2023_03_01:713577007 UMLS_CUI:C1336708 germ cell tumor of testis disease_ontology testicular germ cell neoplasm DOID:5557 Xref MGI. OMIM mapping confirmed by DO. [LS]. testicular germ cell cancer DOID:5557 A testicular cancer that has_material_basis_in germ cells. url:http://cancergenome.nih.gov/cancersselected/TesticularGermCellCancer url:http://www.cancer.gov/dictionary?CdrID=445090 url:http://www.cancer.gov/dictionary?CdrID=695185 A thoracic cancer that is located_in the mediastinum. DOID:9914 ICD10CM:C38.3 ICD9CM:164.9 MESH:D008479 NCI:C3221 NCI:C3549 SNOMEDCT_US_2023_03_01:363494000 SNOMEDCT_US_2023_03_01:94147001 UMLS_CUI:C0025063 UMLS_CUI:C0153504 Tumour of mediastinum mediastinal tumor mediastinum cancer neoplasm of mediastinum disease_ontology DOID:5559 mediastinal cancer DOID:5559 A thoracic cancer that is located_in the mediastinum. url:http://en.wikipedia.org/wiki/Mediastinal NCI:C6637 UMLS_CUI:C1334669 mediastinal mesenchymal tumour soft tissue tumor of mediastinum soft tissue tumour of mediastinum disease_ontology DOID:5560 mediastinal mesenchymal tumor DOID:5560 A teratoma that is located_in the stomach or other gastric tissue. NCI:C5259 UMLS_CUI:C1333790 teratoma of stomach disease_ontology DOID:5561 gastric teratoma DOID:5561 A teratoma that is located_in the stomach or other gastric tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/26850909 Dermoid cyst with malignant transformation (morphologic abnormality) teratoma with malignant Transformation teratoma with malignant transformation (morphologic abnormality) teratoma with malignant transformation [dup] (morphologic abnormality) disease_ontology DOID:5562 obsolete dermoid cyst with malignant transformation true DOID:5562 A teratoma that is cancerous. DOID:6106 ICDO:9080/3 MESH:D013724 NCI:C4286 NCI:C8884 SNOMEDCT_US_2023_03_01:1157239001 UMLS_CUI:C0334520 UMLS_CUI:C0855163 Immature teratoma Teratoma, malignant, NOS malignant Extragonadal teratoma primary malignant extragonadal teratoma disease_ontology DOID:5563 malignant teratoma DOID:5563 A teratoma that is cancerous. url:https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation A fallopian tube germ cell cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. NCI:C40131 UMLS_CUI:C1517127 disease_ontology DOID:5564 fallopian tube teratoma DOID:5564 A fallopian tube germ cell cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. url:https://www.ncbi.nlm.nih.gov/pubmed/14127249 A benign teratoma that is present in an adult. NCI:C9013 SNOMEDCT_US_2023_03_01:42717009 UMLS_CUI:C1368898 disease_ontology DOID:5565 adult teratoma DOID:5565 A benign teratoma that is present in an adult. url:https://www.sciencedirect.com/science/article/pii/B9780702031311000353 A teratoma that is composed exclusively of mature tissues derived from two or three germ layers. ICDO:9080/0 NCI:C9015 SNOMEDCT_US_2023_03_01:55818009 UMLS_CUI:C1368910 disease_ontology DOID:5566 mature teratoma DOID:5566 A teratoma that is composed exclusively of mature tissues derived from two or three germ layers. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/mature-teratoma NCI:C8110 SNOMEDCT_US_2023_03_01:716077006 UMLS_CUI:C0280131 germ cell teratoma of Ovary disease_ontology DOID:5567 ovarian germ cell teratoma DOID:5567 A teratoma that is located_in the mediastinum. NCI:C6438 UMLS_CUI:C1334682 teratoma of mediastinum disease_ontology DOID:5568 mediastinum teratoma DOID:5568 A teratoma that is located_in the mediastinum. url:https://radiopaedia.org/articles/mediastinal-teratoma, url:https://www.sciencedirect.com/science/article/pii/S1755001709000323 Microcystic Adnexal carcinoma Microcystic adnexal carcinoma of skin Syringomatous carcinoma disease_ontology DOID:5569 malignant syringoma DOID:5569 A urinary system disease that is located_in the kidney. DOID:11705 EFO:0003086 ICD10CM:N08 MESH:D007674 NCI:C3149 SNOMEDCT_US_2023_03_01:266612003 UMLS_CUI:C0022658 impaired renal function disease nephropathy disease_ontology DOID:557 kidney disease DOID:557 A urinary system disease that is located_in the kidney. url:http://www.nlm.nih.gov/medlineplus/kidneydiseases.html NCI:C43345 SNOMEDCT_US_2023_03_01:403939009 UMLS_CUI:C1260964 Eccrine ductal carcinoma Eccrine ductal carcinoma of skin anaplastic syringoma disease_ontology DOID:5570 malignant acrospiroma DOID:5570 A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. GARD:3343 ICD10CM:Q87.3 MESH:D001506 MIM:130650 NCI:C34415 ORDO:116 SNOMEDCT_US_2023_03_01:81780002 UMLS_CUI:C0004903 disease_ontology DOID:5572 OMIM mapping confirmed by DO. [SN]. Beckwith-Wiedemann syndrome MESH:D001506 DOID:5572 A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. url:http://en.wikipedia.org/wiki/Beckwith%E2%80%93Wiedemann_syndrome url:http://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/52/viewAbstract A viral infectious disease that results_in infection in swine, has_material_basis_in Classical swine fever virus, which is transmitted_by direct contact with oronasal secretions of the infected pig, transmitted_by ingestion of contaminated food, and transmitted_by fomites. The infection has_symptom high fever, has_symptom huddling, has_symptom weakness, has_symptom drowsiness, has_symptom anorexia, has_symptom conjunctivitis, has_symptom diarrhea, and has_symptom hemorrhages in the skin. Hog cholera (disorder) disease_ontology DOID:5573 obsolete classical swine fever true DOID:5573 A viral infectious disease that results_in infection in swine, has_material_basis_in Classical swine fever virus, which is transmitted_by direct contact with oronasal secretions of the infected pig, transmitted_by ingestion of contaminated food, and transmitted_by fomites. The infection has_symptom high fever, has_symptom huddling, has_symptom weakness, has_symptom drowsiness, has_symptom anorexia, has_symptom conjunctivitis, has_symptom diarrhea, and has_symptom hemorrhages in the skin. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/classical_swine_fever.pdf GARD:5493 ICDO:8155/3 MESH:D003969 NCI:C26749 SNOMEDCT_US_2023_03_01:447643008 UMLS_CUI:C0011993 VIP- Secreting tumor Vasoactive intestinal peptide-secreting tumor Vipoma, malignant malignant vasoactive intestinal peptide-secreting tumor disease_ontology DOID:5574 VIPoma DOID:5574 Delay in sexual development and/or puberty Delayed puberty Delayed puberty (& [NOS]) Delayed puberty (disorder) Delayed puberty NOS delayed puberty disease_ontology DOID:5575 obsolete delayed puberty true DOID:5575 ICD10CM:F52.32 NCI:C34959 SNOMEDCT_US_2023_03_01:81903006 UMLS_CUI:C0033949 male Orgasmic disorder disease_ontology DOID:5576 inhibited male orgasm DOID:5576 A neuroendocrine tumor that results_in an overproduction of gastric acid. ICDO:8153/3 MESH:D015408 NCI:C3050 SNOMEDCT_US_2023_03_01:16189002 UMLS_CUI:C0017150 Gastrin Secreting tumor Gastrin cell tumour malignant gastrinoma disease_ontology DOID:5577 gastrinoma DOID:5577 A neuroendocrine tumor that results_in an overproduction of gastric acid. url:http://www.cancer.gov/dictionary?CdrID=44239 small intestinal G-cell gastrin producing tumor disease_ontology DOID:5578 obsolete small intestinal gastrinoma true DOID:5578 NCI:C27444 UMLS_CUI:C1333767 gastric G-cell gastrin producing tumor disease_ontology DOID:5579 gastric gastrinoma DOID:5579 disease_ontology DOID:558 obsolete acute pyelonephritis without lesion of renal medullary necrosis true DOID:558 NCI:C9069 UMLS_CUI:C1368066 pancreatic G-cell tumor disease_ontology DOID:5580 pancreatic gastrinoma DOID:5580 A lung carcinoma that is located_in large undifferentiated cells. DOID:5584 MESH:D018286 NCI:C3779 NCI:C4452 SNOMEDCT_US_2023_03_01:254631008 SNOMEDCT_US_2023_03_01:42596004 UMLS_CUI:C0206703 UMLS_CUI:C0345960 Giant cell carcinoma Giant cell lung carcinoma disease_ontology DOID:5583 lung giant cell carcinoma DOID:5583 A lung carcinoma that is located_in large undifferentiated cells. url:http://medical-dictionary.thefreedictionary.com/giant+cell+carcinoma NCI:C4461 SNOMEDCT_US_2023_03_01:254659009 UMLS_CUI:C0345982 Multiple self-healing epithelioma of Ferguson-Smith disease_ontology DOID:5585 Ferguson-Smith tumor DOID:5585 A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles. ICD10CM:T79.6 ICD9CM:958.6 MESH:D054061 NCI:C35130 SNOMEDCT_US_2023_03_01:157667008 UMLS_CUI:C0042951 Volkmann's ischemic contracture disease_ontology DOID:5587 Volkmann contracture DOID:5587 A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles. url:https://www.ncbi.nlm.nih.gov/pubmed/26815829 A papillary adenocarcinoma that is located_in the lung. NCI:C5650 SNOMEDCT_US_2023_03_01:1260068009 UMLS_CUI:C1335325 Papillary adenocarcinoma of the lung disease_ontology DOID:5588 lung papillary adenocarcinoma DOID:5588 A papillary adenocarcinoma that is located_in the lung. url:https://radiopaedia.org/articles/mediastinal-teratoma url:https://www.ncbi.nlm.nih.gov/pubmed/26766978 ICD10CM:N10 ICD9CM:590.1 NCI:C123215 SNOMEDCT_US_2023_03_01:155862004 UMLS_CUI:C0520575 disease_ontology DOID:559 acute pyelonephritis DOID:559 A sweat gland carcinoma characterized by predominantly digital location with a high recurrence rate and metastatic potential. disease_ontology DOID:5590 aggressive digital papillary adenocarcinoma DOID:5590 A sweat gland carcinoma characterized by predominantly digital location with a high recurrence rate and metastatic potential. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386778/ url:https://www.ncbi.nlm.nih.gov/pubmed/28477887 url:https://www.ncbi.nlm.nih.gov/pubmed/28495496 url:https://www.ncbi.nlm.nih.gov/pubmed/28832985 SNOMEDCT_US_2023_03_01:128898008 UMLS_CUI:C1367774 Digital papillary adenocarcinoma disease_ontology DOID:5591 eccrine papillary adenocarcinoma DOID:5591 A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass. DOID:6800 NCI:C6870 UMLS_CUI:C1336027 Papillary carcinoma of the breast breast solid papillary carcinoma disease_ontology papillary carcinoma of breast solid papillary carcinoma of the breast DOID:5592 breast papillary carcinoma DOID:5592 A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244819/ A papillary adenocarcinoma that is located_in the stomach. NCI:C5472 UMLS_CUI:C1333785 Papillary adenocarcinoma of stomach disease_ontology DOID:5593 gastric papillary adenocarcinoma DOID:5593 A papillary adenocarcinoma that is located_in the stomach. url:https://www.ncbi.nlm.nih.gov/pubmed/11984707 Intraductal Papillary adenocarcinoma with Invasion Intraductal papillary adenocarcinoma with invasion (morphologic abnormality) disease_ontology DOID:5594 obsolete intraductal papillary adenocarcinoma with invasion true DOID:5594 NCI:C27937 UMLS_CUI:C1335327 Papillary carcinoma of the Thymus disease_ontology DOID:5595 papillary thymic adenocarcinoma DOID:5595 A fallopian tube adenocarcinoma that is characterized by a papillary growth pattern. NCI:C6267 UMLS_CUI:C1333595 Papillary adenocarcinoma of the fallopian tube disease_ontology DOID:5597 fallopian tube papillary adenocarcinoma DOID:5597 A fallopian tube adenocarcinoma that is characterized by a papillary growth pattern. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3425272/ A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. NCI:C40099 UMLS_CUI:C1517124 disease_ontology DOID:5598 fallopian tube serous adenocarcinoma DOID:5598 A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. url:https://www.ncbi.nlm.nih.gov/pubmed/25163242 disease_ontology DOID:5599 obsolete precursor T-lymphoblastic lymphoma/leukemia true DOID:5599 A cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw. ICD10CM:Q07.8 ICD9CM:374.43 MESH:C535908 MIM:154600 SNOMEDCT_US_2023_03_01:5127009 UMLS_CUI:C0266521 Jaw-blinking Marcus-Gunn syndrome Pterygoid-levator synkinesis abnormal innervation syndrome of eyelid disease_ontology DOID:560 OMIM mapping confirmed by DO. [SN]. jaw-winking syndrome DOID:560 A cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw. url:https://pubmed.ncbi.nlm.nih.gov/16411218/ disease_ontology DOID:5600 obsolete precursor lymphoblastic lymphoma/leukemia true DOID:5600 disease_ontology DOID:5601 obsolete T-cell neoplasm true DOID:5601 An adult acute lymphocytic leukemia occurring in adults and that has_material_basis_in T cells. NCI:C9142 UMLS_CUI:C0279592 ATLL Acute Adult T-cell Leukemia-Lymphoma adult Precursor T Lymphoblastic Leukemia disease_ontology DOID:5602 T-cell adult acute lymphocytic leukemia DOID:5602 An adult acute lymphocytic leukemia occurring in adults and that has_material_basis_in T cells. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9142 ATLL An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood. DOID:5599 DOID:715 ICDO:9729/3 ICDO:9837/3 MESH:D015458 UMLS_CUI:C0023492 Precursor T Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia T-cell acute lymphocytic leukaemia T-cell leukemia T-cell lymphoblastic leukemia/lymphoma acute T cell leukemia precursor T-lymphoblastic lymphoma/leukemia disease_ontology DOID:5603 T-cell acute lymphoblastic leukemia DOID:5603 An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/expand/T An acute lymphocytic leukemia occurring during adulthood. NCI:C4967 UMLS_CUI:C0751606 adult ALL adult acute lymphoid Leukemia disease_ontology DOID:5604 adult acute lymphocytic leukemia DOID:5604 An acute lymphocytic leukemia occurring during adulthood. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4967 A breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology. NCI:C9119 UMLS_CUI:C0860580 Medullary breast carcinoma with lymphoid Stroma disease_ontology medullary carcinoma of breast DOID:5605 breast medullary carcinoma DOID:5605 A breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology. url:https://www.ncbi.nlm.nih.gov/pubmed/24065502 ICD10CM:K04.2 MESH:D003784 SNOMEDCT_US_2023_03_01:57602001 UMLS_CUI:C0011401 pulp calcification pulp calcifications pulpal calcifications disease_ontology DOID:5608 dental pulp calcification DOID:5608 disease_ontology DOID:5609 obsolete congenital adrenal gland disorder true DOID:5609 ICD9CM:350.8 UMLS_CUI:C0029834 disease_ontology DOID:561 trigeminal nerve disease DOID:561 malignant Intraspinal meningioma disease_ontology DOID:5611 obsolete anaplastic intraspinal meningioma true DOID:5611 A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer). DOID:3638 DOID:7225 ICD10CM:C72.0 ICD9CM:192.2 MESH:D013120 MESH:D013125 NCI:C168693 NCI:C3381 NCI:C3572 SNOMEDCT_US_2023_03_01:126962006 SNOMEDCT_US_2023_03_01:709289008 SNOMEDCT_US_2023_03_01:94068003 UMLS_CUI:C0037930 UMLS_CUI:C0037939 UMLS_CUI:C0153646 Intraspinal tumor malignant tumor of the Spinal Cord spinal cord cancer spinal cord neoplasm tumor of the Spinal Cord disease_ontology spinal neoplasm DOID:5612 spinal cancer DOID:5612 A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer). url:http://en.wikipedia.org/wiki/Spinal_tumor anaplastic (malignant) meningioma malignant meningioma (morphologic abnormality) meningioma, malignant (morphologic abnormality) disease_ontology DOID:5613 obsolete anaplastic meningioma true DOID:5613 An eye and adnexa disease that is located_in the eye. DOID:2933 ICD10CM:H44 ICD9CM:379.90 MESH:D005128 NCI:C26767 SNOMEDCT_US_2023_03_01:371409005 UMLS_CUI:C0015397 disease_ontology DOID:5614 eye disease DOID:5614 An eye and adnexa disease that is located_in the eye. url:http://en.wikipedia.org/wiki/Eye_disease NCI:C5135 UMLS_CUI:C1334255 Intradural Extramedullary Spinal tumors disease_ontology DOID:5615 spinal canal intradural extramedullary neoplasm DOID:5615 epithelial Dysplasia epithelial dysplasia (morphologic abnormality) disease_ontology DOID:5616 obsolete intraepithelial neoplasm true DOID:5616 NCI:C27598 SNOMEDCT_US_2023_03_01:60750009 UMLS_CUI:C0271353 Oculomotor nerve disorder disorder of oculomotor nerve disease_ontology DOID:562 third cranial nerve disease DOID:562 A sarcoma and hematologic cancer that derives_from follicular lymphoma. NCI:C9294 UMLS_CUI:C1334030 histiocytic and dendritic cell disease_ontology DOID:5621 histiocytic and dendritic cell cancer DOID:5621 A sarcoma and hematologic cancer that derives_from follicular lymphoma. url:http://www.springerlink.com/content/h9wrn7p72x26q035/ disease_ontology DOID:5622 obsolete Major puerperal infectious disease true DOID:5622 A breast metaplastic carcinoma that is characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma. NCI:C40361 UMLS_CUI:C1510796 disease_ontology DOID:5623 adenosquamous breast carcinoma DOID:5623 A breast metaplastic carcinoma that is characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma. url:https://www.nature.com/articles/modpathol201082 A bile duct carcinoma that derives_from squamous cells and gland-like cells. NCI:C5778 UMLS_CUI:C0861854 bile duct Adenosquamous carcinoma disease_ontology DOID:5624 adenosquamous bile duct carcinoma DOID:5624 A bile duct carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma An esophageal carcinoma that derives_from squamous cells and gland-like cells. NCI:C27421 disease_ontology DOID:5625 esophageal adenosquamous carcinoma DOID:5625 An esophageal carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma A thymic carcinoma that derives_from squamous cells and gland-like cells. NCI:C6458 UMLS_CUI:C1332171 Adenosquamous carcinoma of the Thymus disease_ontology DOID:5626 thymus adenosquamous carcinoma DOID:5626 A thymic carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma A gallbladder carcinoma that derives_from squamous cells and gland-like cells. NCI:C7356 UMLS_CUI:C1333741 Adenosquamous carcinoma of the gallbladder disease_ontology adenosquamous carcinoma of gallbladder DOID:5627 adenosquamous gallbladder carcinoma DOID:5627 A gallbladder carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells. NCI:C27418 UMLS_CUI:C1332245 disease_ontology DOID:5628 ampulla of Vater adenosquamous carcinoma DOID:5628 An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma A colon carcinoma that derives_from squamous cells and gland-like cells. NCI:C5491 UMLS_CUI:C1333082 Colonic Adenosquamous carcinoma disease_ontology adenosquamous carcinoma of colon DOID:5629 adenosquamous colon carcinoma DOID:5629 A colon carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma disease_ontology DOID:563 obsolete primary Fusobacteriaceae infectious disease true DOID:563 A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells. NCI:C40296 UMLS_CUI:C1511050 Bartholin gland adenosquamous carcinoma disease_ontology DOID:5630 Bartholin's gland adenosquamous carcinoma DOID:5630 A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma An endometrial carcinoma that derives_from squamous cells and gland-like cells. Adenosquamous carcinoma of Endometrium disease_ontology DOID:5631 endometrial adenosquamous carcinoma DOID:5631 An endometrial carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma NCI:C4538 SNOMEDCT_US_2023_03_01:254978007 UMLS_CUI:C0346328 meningioma of optic nerve sheath disease_ontology DOID:5632 optic nerve sheath meningioma DOID:5632 meningioma of the optic tract disease_ontology DOID:5633 obsolete visual pathway meningioma true DOID:5633 A prostate carcinoma that derives_from squamous cells and gland-like cells. NCI:C5538 UMLS_CUI:C1335503 Adenosquamous carcinoma of the prostate disease_ontology adenosquamous carcinoma of prostate DOID:5634 adenosquamous prostate carcinoma DOID:5634 A prostate carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma NCI:C5474 UMLS_CUI:C1333761 Adenosquamous carcinoma of stomach disease_ontology DOID:5635 gastric adenosquamous carcinoma DOID:5635 A cervical carcinoma that derives_from squamous cells and gland-like cells. NCI:C4519 SNOMEDCT_US_2023_03_01:254888007 UMLS_CUI:C0346202 Adenosquamous carcinoma of cervix Adenosquamous cell carcinoma of the Cervix Uteri disease_ontology DOID:5636 cervical adenosquamous carcinoma DOID:5636 A cervical carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells. NCI:C5721 UMLS_CUI:C1335299 Adenosquamous carcinoma of pancreas disease_ontology adenosquamous carcinoma of the pancreas DOID:5637 pancreatic adenosquamous carcinoma DOID:5637 A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells. url:http://en.wikipedia.org/wiki/Adenosquamous_carcinoma url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5721 url:https://www.ncbi.nlm.nih.gov/pubmed/24859531 ICDO:9251/3 NCI:C8380 SNOMEDCT_US_2023_03_01:48460009 UMLS_CUI:C0334554 malignant Giant cell neoplasm of soft Parts disease_ontology DOID:5638 malignant giant cell tumor of soft parts DOID:5638 NCI:C39955 UMLS_CUI:C1514912 disease_ontology DOID:5639 rete testis neoplasm DOID:5639 A pulmonary fibrosis that is characterized by diffuse destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. NCI:C27216 UMLS_CUI:C0865849 disease_ontology DOID:5641 diffuse pulmonary fibrosis DOID:5641 A pulmonary fibrosis that is characterized by diffuse destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. url:https://www.sciencedirect.com/science/article/pii/S0954611106004331 A pulmonary fibrosis that is characterized by localized destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. NCI:C27103 SNOMEDCT_US_2023_03_01:233726000 UMLS_CUI:C0340127 disease_ontology DOID:5642 localized pulmonary fibrosis DOID:5642 A pulmonary fibrosis that is characterized by localized destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. url:https://www.sciencedirect.com/science/article/pii/S0954611106004331 NCI:C39872 UMLS_CUI:C1519828 disease_ontology DOID:5643 urethral villous adenoma DOID:5643 MESH:D014263 SNOMEDCT_US_2023_03_01:253383003 UMLS_CUI:C0040962 disease_ontology DOID:5644 tricuspid valve prolapse DOID:5644 A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus. DOID:5647 GARD:8238 ICDO:9390/3 MESH:C562943 NCI:C4533 NCI:C4715 SNOMEDCT_US_2023_03_01:1156471001 SNOMEDCT_US_2023_03_01:188292007 UMLS_CUI:C0346289 UMLS_CUI:C0431109 disease_ontology DOID:5648 choroid plexus carcinoma DOID:5648 A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus. url:http://en.wikipedia.org/wiki/Carcinoma url:http://en.wikipedia.org/wiki/Choroid_plexus_carcinoma url:http://www.cancer.gov/dictionary?CdrID=45963 solid carcinoma NOS (morphologic abnormality) solid carcinoma with mucin formation disease_ontology DOID:5649 obsolete solid carcinoma true DOID:5649 ICD9CM:386.54 SNOMEDCT_US_2023_03_01:194375009 UMLS_CUI:C0155518 Hypoactive bilateral labyrinthine dysfunction Hypoactive labyrinth, bilateral disease_ontology DOID:565 bilateral hypoactive labyrinth DOID:565 A carcinoma that results from uncontrolled proliferation of transformed cells of epithelial origin, which has no epithelial structural differentiation. anaplastic carcinoma carcinoma, anaplastic (morphologic abnormality) carcinoma, anaplastic type, NOS (morphologic abnormality) disease_ontology DOID:5651 obsolete anaplastic carcinoma true DOID:5651 A carcinoma that results from uncontrolled proliferation of transformed cells of epithelial origin, which has no epithelial structural differentiation. url:http://en.wikipedia.org/wiki/Anaplastic_carcinoma url:http://www.mondofacto.com/facts/dictionary?anaplastic+carcinoma Metaplastic carcinoma (morphologic abnormality) disease_ontology DOID:5652 obsolete metaplastic carcinoma true DOID:5652 An optic nerve disease that is characterized by lesions of the optic chiasm, manifesting as various impairments of the sufferer's visual field according to the location of the lesion along the optic nerve. ICD10CM:H47.4 ICD9CM:377.5 SNOMEDCT_US_2023_03_01:70476006 UMLS_CUI:C0155307 chiasma syndrome disorder of optic chiasm disease_ontology DOID:5655 chiasmal syndrome DOID:5655 An optic nerve disease that is characterized by lesions of the optic chiasm, manifesting as various impairments of the sufferer's visual field according to the location of the lesion along the optic nerve. url:https://en.wikipedia.org/wiki/Chiasmal_syndrome A neuropathy that is located_in one of the twelve cranial nerves. ICD10CM:G52.9 ICD9CM:352.9 MESH:D003389 NCI:C26733 SNOMEDCT_US_2023_03_01:73013002 UMLS_CUI:C0010266 Cranial nerve disorder disorder of cranial nerve disease_ontology DOID:5656 cranial nerve disease DOID:5656 A neuropathy that is located_in one of the twelve cranial nerves. url:http://en.wikipedia.org/wiki/Cranial_nerve_disease url:http://www.ncbi.nlm.nih.gov/mesh/68003389 A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. ICDO:8314/3 NCI:C4152 SNOMEDCT_US_2023_03_01:189655006 UMLS_CUI:C0334318 disease_ontology DOID:5658 lipid-rich carcinoma DOID:5658 A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. url:http://www.pathologyoutlines.com/topic/breastmalignantlipidrich.html url:https://www.ncbi.nlm.nih.gov/pubmed/25789031, A carcinoma that results_in a lesion that breaks through the boundary located_in the duct or located_in the lobule. disease_ontology DOID:5659 obsolete invasive carcinoma true DOID:5659 A carcinoma that results_in a lesion that breaks through the boundary located_in the duct or located_in the lobule. url:http://www.partnershipforbreastcare.org/pbc/problems/pathology/invasive.aspx ICD10CM:H83.2 ICD9CM:386.5 SNOMEDCT_US_2023_03_01:5239005 UMLS_CUI:C0155514 disease_ontology DOID:566 labyrinthine dysfunction DOID:566 A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells. NCI:C4107 SNOMEDCT_US_2023_03_01:764938007 UMLS_CUI:C0334254 Nasopharyngeal type Undifferentiated carcinoma lymphoepithelial carcinoma disease_ontology DOID:5660 lymphoepithelioma-like carcinoma DOID:5660 A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588446/ A sarcomatoid carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma. ICDO:8022/3 NCI:C4094 SNOMEDCT_US_2023_03_01:16741004 UMLS_CUI:C0334233 disease_ontology DOID:5662 pleomorphic carcinoma DOID:5662 A sarcomatoid carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma. url:https://pubmed.ncbi.nlm.nih.gov/35361152/ disease_ontology DOID:5663 obsolete helicobacter pylori-related carcinoma true DOID:5663 An ear cancer that is located_in the external ear. NCI:C4653 SNOMEDCT_US_2023_03_01:277156006 UMLS_CUI:C0349576 malignant neoplasm of the External ear malignant tumor of external ear disease_ontology DOID:5665 external ear cancer DOID:5665 An ear cancer that is located_in the external ear. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C4652&key=943007722&b=1&n=null NCI:C6938 SNOMEDCT_US_2023_03_01:254708001 UMLS_CUI:C1412016 carcinoma of the Sweat gland disease_ontology DOID:5667 sweat gland carcinoma DOID:5667 A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells. NCI:C4188 SNOMEDCT_US_2023_03_01:36425007 UMLS_CUI:C0334370 Comedocarcinoma disease_ontology DOID:5670 comedo carcinoma DOID:5670 A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells. url:http://www.cancer.gov/dictionary/?CdrID=44330 url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4188 An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other. DOID:1994 DOID:1997 ICD10CM:C18.9 NCI:C4978 SNOMEDCT_US_2023_03_01:93854002 UMLS_CUI:C0346629 disease_ontology DOID:5672 large intestine cancer DOID:5672 An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other. url:http://en.wikipedia.org/wiki/Large_intestine A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells. ICDO:8201/3 MESH:D000230 NCI:C3680 SNOMEDCT_US_2023_03_01:30156004 UMLS_CUI:C0205643 ductal carcinoma, cribriform type disease_ontology DOID:5675 cribriform carcinoma DOID:5675 A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells. url:https://www.ncbi.nlm.nih.gov/pubmed/24938660, An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen. GARD:10165 NCI:C8885 UMLS_CUI:C1334582 primary malignant Extragonadal Nonseminoma disease_ontology DOID:5677 malignant extragonadal nonseminomatous germ cell tumor DOID:5677 An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen. url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Nongerminomatous ICD9CM:362.85 SNOMEDCT_US_2023_03_01:87194000 UMLS_CUI:C0474334 Retinal nerve fiber bundle defects Retinal nerve fiber bundle deficiency disease_ontology DOID:5678 nerve fibre bundle defect DOID:5678 An eye disease that is located_in the retina. ICD10CM:H35.9 ICD9CM:362.9 MESH:D012164 NCI:C26875 SNOMEDCT_US_2023_03_01:29555009 UMLS_CUI:C0035309 disease_ontology DOID:5679 retinal disease DOID:5679 An eye disease that is located_in the retina. url:http://en.wikipedia.org/wiki/Retina#Diseases_and_disorders An embryonal carcinoma that is located_in the testis. NCI:C6341 UMLS_CUI:C0238448 Embryonal carcinoma of testis testicular embryonal carcinoma disease_ontology embryonal carcinoma of the testis DOID:5680 embryonal testis carcinoma DOID:5680 An embryonal carcinoma that is located_in the testis. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma An embryonal carcinoma that is located_in the ovary. NCI:C8108 SNOMEDCT_US_2023_03_01:254872007 UMLS_CUI:C0346183 Embryonal carcinoma of ovary Embryonal carcinoma of the Ovary disease_ontology DOID:5681 ovarian embryonal carcinoma DOID:5681 An embryonal carcinoma that is located_in the ovary. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families. MESH:D061325 NCI:C8493 SNOMEDCT_US_2023_03_01:718220008 UMLS_CUI:C0677776 BRCA1- and BRCA2-associated hereditary breast and ovarian cancer Breast and Ovarian Cancer syndrome HBOC syndrome Hereditary Breast and Ovarian Cancer syndrome Hereditary breast and ovarian cancer disease_ontology DOID:5683 Xref MGI. hereditary breast ovarian cancer syndrome DOID:5683 A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families. url:http://en.wikipedia.org/wiki/Hereditary_breast%E2%80%93ovarian_cancer_syndrome url:http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page1 url:https://www.jax.org/education-and-learning/clinical-and-continuing-education/cancer-resources/hereditary-breast-and-ovarian-cancer-syndrome-factsheet url:https://www.ncbi.nlm.nih.gov/books/NBK1247/ A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance. MIM:271510 NCI:C92206 UMLS_CUI:C0920349 Spondylar and nasal Alterations-Striated Metaphyses syndrome sponastrime dysplasia disease_ontology DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type DOID:5684 A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance. url:http://omim.org/entry/271510 url:https://www.ncbi.nlm.nih.gov/pubmed/10797420 disease_ontology DOID:5687 obsolete flat adenoma syndrome true DOID:5687 A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8. GARD:7885 MESH:D014898 MIM:277700 NCI:C3447 ORDO:902 SNOMEDCT_US_2023_03_01:51626007 UMLS_CUI:C0043119 WS Werner's syndrome adult premature ageing syndrome adult progeria disease_ontology DOID:5688 OMIM mapping confirmed by DO. [LS]. Werner syndrome DOID:5688 A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8. url:https://en.wikipedia.org/wiki/Werner_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/15946710 url:https://www.ncbi.nlm.nih.gov/pubmed/9288107 WS A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes. MESH:D008080 NCI:C176979 ORDO:99971 SNOMEDCT_US_2023_03_01:28655007 UMLS_CUI:C1370889 atypical lipomatous tumor disease_ontology DOID:5690 well-differentiated liposarcoma DOID:5690 A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes. url:https://www.ncbi.nlm.nih.gov/pubmed/26645460 ICD10CM:H47.6 ICD9CM:377.7 NCI:C35275 SNOMEDCT_US_2023_03_01:128329001 UMLS_CUI:C0234398 visual cortex dysfunction disease_ontology DOID:5691 visual cortex disease DOID:5691 NCI:C4252 SNOMEDCT_US_2023_03_01:404070007 UMLS_CUI:C0334471 Round cell liposarcoma disease_ontology DOID:5692 cellular myxoid liposarcoma DOID:5692 NCI:C7811 UMLS_CUI:C0278608 disease_ontology DOID:5693 adult liposarcoma DOID:5693 NCI:C5705 UMLS_CUI:C1333456 Liposarcoma of esophagus Liposarcoma of oesophagus oesophagus liposarcoma disease_ontology DOID:5694 esophagus liposarcoma DOID:5694 NCI:C8091 UMLS_CUI:C0279984 pediatric liposarcoma disease_ontology DOID:5695 childhood liposarcoma DOID:5695 A liposarcoma that is located_in the larynx. NCI:C6021 UMLS_CUI:C1334372 Liposarcoma of Larynx disease_ontology DOID:5696 larynx liposarcoma DOID:5696 A liposarcoma that is located_in the larynx. url:http://www.springerlink.com/content/k571r5t8637pg5p5/ An ovary sarcoma that arises from fatty tissue. NCI:C6419 UMLS_CUI:C1335165 Liposarcoma of Ovary disease_ontology DOID:5697 liposarcoma of the ovary DOID:5697 An ovary sarcoma that arises from fatty tissue. url:https://pubmed.ncbi.nlm.nih.gov/32656967/ ICDO:8857/3 NCI:C6509 SNOMEDCT_US_2023_03_01:128883006 UMLS_CUI:C1266130 disease_ontology DOID:5698 fibroblastic liposarcoma DOID:5698 A liposarcoma that is located_in the kidney. NCI:C6185 UMLS_CUI:C1335745 Liposarcoma of kidney disease_ontology DOID:5699 kidney liposarcoma DOID:5699 A liposarcoma that is located_in the kidney. url:https://www.ncbi.nlm.nih.gov/pubmed/15689251 url:https://www.ncbi.nlm.nih.gov/pubmed/30050631 An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. DOID:54 DOID:55 ICD10CM:I06.1 ICD9CM:395.1 ICD9CM:396.3 MESH:D001022 NCI:C51223 SNOMEDCT_US_2023_03_01:155283004 SNOMEDCT_US_2023_03_01:194736003 SNOMEDCT_US_2023_03_01:60234000 UMLS_CUI:C0003504 UMLS_CUI:C0155568 UMLS_CUI:C0264774 Rheumatic aortic insufficiency Rheumatic aortic regurgitation Rheumatic aortic valve regurgitation aortic incompetence aortic insufficiency aortic regurgitation rheumatic aortic valve insufficiency disease_ontology Corrigan's disease DOID:57 aortic valve insufficiency DOID:57 An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. url:http://en.wikipedia.org/wiki/Aortic_insufficiency NCI:C5488 UMLS_CUI:C1333778 Liposarcoma of the stomach disease_ontology DOID:5700 gastric liposarcoma DOID:5700 A breast sarcoma that arises from fat cells. NCI:C5187 UMLS_CUI:C1332632 Liposarcoma of the breast disease_ontology DOID:5701 breast liposarcoma DOID:5701 A breast sarcoma that arises from fat cells. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/liposarcoma ICDO:8854/3 MESH:D008080 NCI:C3705 SNOMEDCT_US_2023_03_01:404071006 UMLS_CUI:C0205825 disease_ontology DOID:5702 pleomorphic liposarcoma DOID:5702 ICDO:8855/3 NCI:C4253 SNOMEDCT_US_2023_03_01:11073003 UMLS_CUI:C0334472 disease_ontology DOID:5703 mixed liposarcoma DOID:5703 NCI:C6507 SNOMEDCT_US_2023_03_01:28655007 UMLS_CUI:C0334469 disease_ontology DOID:5704 sclerosing liposarcoma DOID:5704 NCI:C27489 SNOMEDCT_US_2023_03_01:404073009 UMLS_CUI:C1275275 disease_ontology DOID:5705 spindle cell liposarcoma DOID:5705 Non-metastatic Liposarcoma disease_ontology DOID:5707 obsolete liposarcoma nonmetastatic true DOID:5707 disease_ontology DOID:5708 obsolete liposarcoma metastatic true DOID:5708 NCI:C27781 UMLS_CUI:C0545074 disease_ontology DOID:5709 mixed-type liposarcoma DOID:5709 ICD10CM:G56.10 ICD9CM:354.1 SNOMEDCT_US_2023_03_01:193127001 UMLS_CUI:C0154742 disease_ontology DOID:571 median neuropathy DOID:571 relapsed Liposarcoma disease_ontology DOID:5710 obsolete liposarcoma recurrent true DOID:5710 A vulvar sarcoma that has_material_basis_in adipocytes. NCI:C40321 disease_ontology DOID:5711 vulvar liposarcoma DOID:5711 A vulvar sarcoma that has_material_basis_in adipocytes. url:https://www.ncbi.nlm.nih.gov/pubmed/25469348 NCI:C5615 UMLS_CUI:C1333175 Liposarcoma of the skin disease_ontology DOID:5712 cutaneous liposarcoma DOID:5712 A liposarcoma that is located_in the mediastinum. NCI:C6614 UMLS_CUI:C1334663 Liposarcoma of mediastinum disease_ontology DOID:5713 mediastinum liposarcoma DOID:5713 A liposarcoma that is located_in the mediastinum. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222671/ NCI:C6973 UMLS_CUI:C1334242 disease_ontology DOID:5714 intracranial liposarcoma DOID:5714 NCI:C4348 SNOMEDCT_US_2023_03_01:254962005 UMLS_CUI:C0338078 Non-Functioning neoplasm of the Pituitary Non-Secretory adenoma of the Pituitary gland disease_ontology DOID:5715 functionless pituitary adenoma DOID:5715 DOID:6254 UMLS_CUI:C0278864 Pituitary tumors, Hormone Producing Somatotropinoma growth hormone producing pituitary tumor disease_ontology DOID:5716 hormone producing pituitary cancer DOID:5716 relapsed tumor of Pituitary disease_ontology DOID:5717 obsolete recurrent pituitary tumor true DOID:5717 An adrenal gland cancer that derives_from immature neuroblastic cells. NCI:C4827 SNOMEDCT_US_2023_03_01:281562007 UMLS_CUI:C0559460 neuroblastoma of Adrenal gland disease_ontology DOID:5718 adrenal neuroblastoma DOID:5718 An adrenal gland cancer that derives_from immature neuroblastic cells. url:http://en.wikipedia.org/wiki/Adrenal_tumor#Neuroblastoma url:http://www.cancer.gov/cancertopics/types/neuroblastoma An adrenal gland cancer that is located_in the adrenal medulla. DOID:662 GARD:5755 ICD10CM:C74.1 NCI:C4396 NCI:C4856 SNOMEDCT_US_2023_03_01:127023007 SNOMEDCT_US_2023_03_01:93666006 UMLS_CUI:C0344456 UMLS_CUI:C0596046 adrenal medulla neoplasm adrenal medulla tumor malignant neoplasm of adrenal medulla malignant tumor of the Adrenal Medulla disease_ontology DOID:5719 adrenal medulla cancer DOID:5719 An adrenal gland cancer that is located_in the adrenal medulla. url:http://en.wikipedia.org/wiki/Adrenal_tumor#Tumors_of_the_Adrenal_Medulla ICD9CM:354 SNOMEDCT_US_2023_03_01:193125009 UMLS_CUI:C0154741 disease_ontology DOID:572 mononeuritis of upper limb and mononeuritis multiplex DOID:572 Neuroblastomas of Adrenal gland and Sympathetic nervous system disease_ontology DOID:5720 obsolete neuroblastomas of the adrenal gland and sympathetic nervous system true DOID:5720 An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve. ICD10CM:H47.2 ICD9CM:377.1 MESH:D009896 MIM:PS165500 NCI:C34863 ORDO:98673 SNOMEDCT_US_2023_03_01:155188004 UMLS_CUI:C0029124 atrophy of optic disc disease_ontology DOID:5723 Xref MGI. optic atrophy DOID:5723 An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve. url:https://eyewiki.aao.org/Optic_Atrophy A seminal vesicle tumor that derives_from glandular epithelial cells and that is located_in the seminal vesicle. NCI:C39907 UMLS_CUI:C1519234 disease_ontology DOID:5724 seminal vesicle cystadenoma DOID:5724 A seminal vesicle tumor that derives_from glandular epithelial cells and that is located_in the seminal vesicle. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4996551/ A rete ovarii adenoma that is characterized by the presence of cysts and/or cystic spaces. NCI:C40019 UMLS_CUI:C1514907 disease_ontology DOID:5725 rete ovarii cystadenoma DOID:5725 A rete ovarii adenoma that is characterized by the presence of cysts and/or cystic spaces. url:https://www.ncbi.nlm.nih.gov/pubmed/2852648 A uterine benign neoplasm that is located_in the uterine ligament and has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed and is characterized by the formation of fingerlike projections. NCI:C40142 UMLS_CUI:C3642324 disease_ontology DOID:5726 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease DOID:5726 A uterine benign neoplasm that is located_in the uterine ligament and has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed and is characterized by the formation of fingerlike projections. url:https://www.ncbi.nlm.nih.gov/pubmed/22296276 A uterine cancer that is located_in the ligaments that support the uterus. NCI:C40133 UMLS_CUI:C1519870 tumor of the uterine Ligament disease_ontology DOID:5727 uterine ligament cancer DOID:5727 A uterine cancer that is located_in the ligaments that support the uterus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931904/ A peritoneal benign neoplasm that is located throughout the peritoneum and derives_from smooth muscle. GARD:12843 NCI:C3958 SNOMEDCT_US_2023_03_01:62557001 UMLS_CUI:C0267785 leiomyomatosis peritonealis disseminata disease_ontology DOID:5728 diffuse peritoneal leiomyomatosis DOID:5728 A peritoneal benign neoplasm that is located throughout the peritoneum and derives_from smooth muscle. url:https://www.ncbi.nlm.nih.gov/pubmed/23815223 A leiomyomatosis that is located within the blood vessels. GARD:10802 NCI:C4518 SNOMEDCT_US_2023_03_01:254883003 UMLS_CUI:C0346200 disease_ontology DOID:5729 intravenous leiomyomatosis DOID:5729 A leiomyomatosis that is located within the blood vessels. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762011/ DOID:7318 MESH:D009408 NCI:C27221 SNOMEDCT_US_2023_03_01:45781009 UMLS_CUI:C0027743 UMLS_CUI:C1510429 Compression neuropathy entrapment neuropathy peripheral nerve entrapment syndrome disease_ontology DOID:573 nerve compression syndrome DOID:573 A chronic salpingitis that is caused by is nodular thickening of the narrow part of the uterine tube, due to inflammation. NCI:C40119 SNOMEDCT_US_2023_03_01:36742000 UMLS_CUI:C0269043 disease_ontology DOID:5730 salpingitis isthmica nodosa DOID:5730 A chronic salpingitis that is caused by is nodular thickening of the narrow part of the uterine tube, due to inflammation. url:https://en.wikipedia.org/wiki/Salpingitis_isthmica_nodosa ICD10CM:N70.11 NCI:C40118 SNOMEDCT_US_2023_03_01:55551005 UMLS_CUI:C0269041 disease_ontology DOID:5731 chronic salpingitis DOID:5731 ICD10CM:N70 NCI:C34968 SNOMEDCT_US_2023_03_01:155974004 UMLS_CUI:C0034220 Pyosalpingitis disease_ontology DOID:5732 pyosalpinx DOID:5732 A fallopian tube disease that is characterized by inflammation of the fallopian tube. ICD10CM:N70.91 MESH:D012488 NCI:C26880 SNOMEDCT_US_2023_03_01:155968004 UMLS_CUI:C0036130 disease_ontology DOID:5733 salpingitis DOID:5733 A fallopian tube disease that is characterized by inflammation of the fallopian tube. url:https://en.wikipedia.org/wiki/Salpingitis disease_ontology DOID:5738 obsolete secondary myelofibrosis true DOID:5738 A nervous system disease that affects the peripheral nervous system. DOID:13069 NCI:C119734 NCI:C27587 UMLS_CUI:C0031117 UMLS_CUI:C1335029 disease_ontology peripheral nerve disease peripheral neuropathy DOID:574 peripheral nervous system disease DOID:574 A nervous system disease that affects the peripheral nervous system. url:http://en.wikipedia.org/w/index.php?title=Peripheral_neuropathy&redirect=no NCI:C27455 UMLS_CUI:C1336009 small intestinal VIP Producing tumor small intestinal VIP Producing tumour small intestinal vasoactive intestinal peptide producing tumour disease_ontology DOID:5740 small intestinal vasoactive intestinal peptide producing tumor DOID:5740 NCI:C95599 UMLS_CUI:C2033037 pancreatic VIP Producing tumor pancreatic VIP Producing tumour pancreatic vasoactive intestinal peptide producing tumour disease_ontology DOID:5741 pancreatic vasoactive intestinal peptide producing tumor DOID:5741 A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase. NCI:C7977 SNOMEDCT_US_2023_03_01:783771003 UMLS_CUI:C0279661 pancreatic acinar cell carcinoma disease_ontology DOID:5742 pancreatic acinar cell adenocarcinoma DOID:5742 A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase. url:http://en.wikipedia.org/wiki/Acinar_cell_carcinoma_of_the_pancreas url:http://www.pathologyoutlines.com/topic/pancreasacinar.html A breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation. NCI:C40367 UMLS_CUI:C1515868 disease_ontology DOID:5743 acinic cell breast carcinoma DOID:5743 A breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148534/ An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity). DOID:5745 NCI:C40025 NCI:C7550 UMLS_CUI:C1335177 UMLS_CUI:C1518234 malignant ovarian serous tumor serous carcinoma of Ovary disease_ontology DOID:5744 ovary serous adenocarcinoma DOID:5744 An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity). url:http://en.wikipedia.org/wiki/Adenocarcinoma url:http://en.wikipedia.org/wiki/Serous_carcinoma An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed. NCI:C7978 UMLS_CUI:C0279663 serous cystadenoma disease_ontology DOID:5746 ovarian serous cystadenocarcinoma DOID:5746 An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed. url:http://cancergenome.nih.gov/cancersselected/ovarian url:http://en.wikipedia.org/wiki/Serous_cystadenocarcinoma A uterine ligament adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. NCI:C40136 UMLS_CUI:C1519872 disease_ontology DOID:5747 uterine ligament serous adenocarcinoma DOID:5747 A uterine ligament adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. url:https://journals.sagepub.com/doi/pdf/10.1177/1066896915622690 ICD10CM:I09.89 ICD9CM:397.1 SNOMEDCT_US_2023_03_01:18687009 UMLS_CUI:C0155579 Rheumatic disease of pulmonary valve Rheumatic pulmonary incompetence disease_ontology DOID:5748 rheumatic pulmonary valve disease DOID:5748 ICD9CM:424.3 NCI:C78579 SNOMEDCT_US_2023_03_01:76267008 UMLS_CUI:C0034087 pulmonary valve disorder disease_ontology DOID:5749 pulmonary valve disease DOID:5749 A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia. NCI:C27838 UMLS_CUI:C0854924 uterine corpus serous adenocarcinoma uterine papillary serous carcinoma uterine serous carcinoma disease_ontology DOID:5750 endometrial serous adenocarcinoma DOID:5750 A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia. url:http://en.wikipedia.org/wiki/Uterine_serous_carcinoma A serous cystadenocarcinoma that is located_in the pancreas. NCI:C5724 SNOMEDCT_US_2023_03_01:690801000119108 UMLS_CUI:C1335315 serous cystadenocarcinoma of pancreas disease_ontology DOID:5751 pancreatic serous cystadenocarcinoma DOID:5751 A serous cystadenocarcinoma that is located_in the pancreas. url:https://en.wikipedia.org/wiki/Pancreatic_serous_cystadenoma A cervical adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. NCI:C40201 UMLS_CUI:C1516431 disease_ontology DOID:5752 cervical serous adenocarcinoma DOID:5752 A cervical adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. url:https://www.ncbi.nlm.nih.gov/pubmed/25370301 A cervicitis that is located_in the endocervix. NCI:C26762 SNOMEDCT_US_2023_03_01:155980007 UMLS_CUI:C0014127 disease_ontology DOID:5757 endocervicitis DOID:5757 A cervicitis that is located_in the endocervix. url:https://www.ncbi.nlm.nih.gov/pubmed/23134447 url:https://www.ncbi.nlm.nih.gov/pubmed/29370498 GARD:3369 MESH:C535700 NCI:C4268 SNOMEDCT_US_2023_03_01:89623007 UMLS_CUI:C0334492 Mesenchymoma, malignant disease_ontology DOID:5758 malignant mesenchymoma DOID:5758 MESH:D012626 NCI:C3363 SNOMEDCT_US_2023_03_01:126491004 UMLS_CUI:C0036503 Sebaceous neoplasm disease_ontology DOID:5759 sebaceous gland neoplasm DOID:5759 A kidney disease that is characterized by the presence of excess proteins in the urine. ICD10CM:R80 ICD9CM:791.0 MESH:D011507 NCI:C38012 SNOMEDCT_US_2023_03_01:144515004 UMLS_CUI:C0033687 disease_ontology DOID:576 proteinuria DOID:576 A kidney disease that is characterized by the presence of excess proteins in the urine. url:https://en.wikipedia.org/wiki/Proteinuria A breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. It is a distinct variant of invasive ductal carcinoma. NCI:C40369 UMLS_CUI:C1519207 disease_ontology DOID:5760 sebaceous breast carcinoma DOID:5760 A breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. It is a distinct variant of invasive ductal carcinoma. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5323417/ A vulva carcinoma that is characterized by the presence of sebaceous secretions. NCI:C40309 UMLS_CUI:C1520094 disease_ontology DOID:5761 vulvar sebaceous carcinoma DOID:5761 A vulva carcinoma that is characterized by the presence of sebaceous secretions. url:https://www.ncbi.nlm.nih.gov/pubmed/10535578 NCI:C38152 UMLS_CUI:C1333065 disease_ontology DOID:5763 lung clear cell-sugar-tumor DOID:5763 DOID:6205 NCI:C5276 NCI:C5668 UMLS_CUI:C1334450 UMLS_CUI:C1335488 lung primary meningioma primary pulmonary meningioma pulmonary meningioma disease_ontology DOID:5764 lung meningioma DOID:5764 disease_ontology DOID:5765 obsolete primary ectopic meningioma true DOID:5765 MESH:D047868 NCI:C5656 SNOMEDCT_US_2023_03_01:707365008 UMLS_CUI:C1334455 Pneumocytoma disease_ontology DOID:5766 pulmonary sclerosing hemangioma DOID:5766 NCI:C5671 SNOMEDCT_US_2023_03_01:126707007 UMLS_CUI:C1290358 lung Hilum tumor neoplasm of hilus of lung disease_ontology DOID:5767 hilar lung neoplasm DOID:5767 An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children. GARD:498 MIM:154400 NCI:C35795 UMLS_CUI:C1332140 AFD Nager syndrome acrofacial dysostosis 1, Nager type preaxial acrofacial dysostosis preaxial manibulofacial dysostosis disease_ontology DOID:5768 OMIM mapping confirmed by DO. [SN]. Nager acrofacial dysostosis DOID:5768 An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children. url:http://en.wikipedia.org/wiki/Nager_acrofacial_dysostosis url:http://ghr.nlm.nih.gov/condition/nager-syndrome url:https://www.faces-cranio.org/nager AFD NCI:C4478 SNOMEDCT_US_2023_03_01:254756007 UMLS_CUI:C0346054 Cutaneous Verruciform Xanthoma Verruciform xanthoma disease_ontology DOID:5769 verruciform xanthoma of skin DOID:5769 MAI lymphadenitis disease_ontology DOID:5770 obsolete Mycobacterium avium-intracellulare lymphadenitis true DOID:5770 MAC lymphadenitis disease_ontology DOID:5771 obsolete Mycobacterium avium complex lymphadenitis true DOID:5771 A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system. NCI:C5503 UMLS_CUI:C1332882 CNS hematopoietic tumor disease_ontology hematopoietic neoplasm of central nervous system DOID:5772 central nervous system hematologic cancer DOID:5772 A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system. url:https://www.merckmanuals.com/professional/ear,-nose,-and-throat-disorders/tumors-of-the-head-and-neck/jaw-tumors A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues. DOID:9679 GARD:7264 ICD10CM:K13.5 ICD9CM:528.8 MESH:D009914 NCI:C34866 SNOMEDCT_US_2023_03_01:32883009 UMLS_CUI:C0029171 UMLS_CUI:C0029172 Oral cavity Submucous Fibrosis Oral submucosal fibrosis Oral submucosal fibrosis, including of tongue disease_ontology DOID:5773 oral submucous fibrosis DOID:5773 A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues. url:https://en.wikipedia.org/wiki/Oral_submucous_fibrosis url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627879/ NCI:C27777 UMLS_CUI:C1333817 disease_ontology DOID:5774 giant hemangioma DOID:5774 NCI:C5395 UMLS_CUI:C1333086 Colonic Cavernous hemangioma disease_ontology DOID:5775 cavernous hemangioma of colon DOID:5775 NCI:C7053 UMLS_CUI:C1332863 disease_ontology DOID:5776 cavernous hemangioma of face DOID:5776 NCI:C5698 SNOMEDCT_US_2023_03_01:1186811008 UMLS_CUI:C1335686 neuroendocrine tumor of rectum disease_ontology DOID:5777 rectum neuroendocrine neoplasm DOID:5777 urination disorder disease_ontology DOID:578 obsolete urination disorder true DOID:578 ICD10CM:H73.81 ICD9CM:384.81 SNOMEDCT_US_2023_03_01:38645004 UMLS_CUI:C0155470 disease_ontology DOID:5781 atrophic flaccid tympanic membrane DOID:5781 ICD10CM:H73.9 ICD9CM:384.9 SNOMEDCT_US_2023_03_01:21426000 UMLS_CUI:C0041825 disease_ontology DOID:5782 tympanic membrane disease DOID:5782 NCI:C5821 UMLS_CUI:C1333462 esophageal neuroendocrine tumour neuroendocrine tumor of esophagus neuroendocrine tumour of oesophagus disease_ontology DOID:5784 esophageal neuroendocrine tumor DOID:5784 relapsed Hepatoblastoma disease_ontology DOID:5785 obsolete recurrent hepatoblastoma true DOID:5785 relapsed pediatric cancer of the Liver disease_ontology DOID:5786 obsolete recurrent childhood cancer of liver true DOID:5786 NCI:C7097 SNOMEDCT_US_2023_03_01:734033006 UMLS_CUI:C1334784 mixed epithelial and mesenchymal hepatoblastoma disease_ontology DOID:5789 mixed hepatoblastoma DOID:5789 disease_ontology DOID:5790 obsolete resectable hepatoblastoma true DOID:5790 disease_ontology DOID:5792 obsolete hepatoblastoma with pure fetal epithelial differentiation true DOID:5792 Non-Resectable Hepatoblastoma disease_ontology DOID:5796 obsolete nonresectable hepatoblastoma true DOID:5796 disease_ontology DOID:5797 obsolete mixed hepatoblastoma with teratoid features true DOID:5797 NCI:C7095 UMLS_CUI:C1334543 disease_ontology DOID:5798 macrotrabecular hepatoblastoma DOID:5798 A nephrolithiasis that is characterized by stones composed predominantly uric acid. ICD9CM:274.11 MIM:605990 NCI:C123245 SNOMEDCT_US_2023_03_01:267441009 UMLS_CUI:C0403719 acute urate nephropathy disease_ontology DOID:580 uric acid nephrolithiasis DOID:580 A nephrolithiasis that is characterized by stones composed predominantly uric acid. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1831527/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4100778/ disease_ontology DOID:5802 obsolete hepatoblastoma with combined fetal epithelial differentiation true DOID:5802 MESH:D021922 UMLS_CUI:C0012628 disease_ontology DOID:5804 discrete subaortic stenosis DOID:5804 An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction. GARD:5052 MESH:D001020 NCI:C85172 SNOMEDCT_US_2023_03_01:250915007 UMLS_CUI:C0340375 disease_ontology DOID:5805 subvalvular aortic stenosis DOID:5805 An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction. url:https://www.ncbi.nlm.nih.gov/pubmed/26731888 url:https://www.ncbi.nlm.nih.gov/pubmed/29377232 MIM:163100 Salmon patch nevus Unna's nevus disease_ontology DOID:5806 stork bite DOID:5806 NCI:C6589 UMLS_CUI:C1332994 disease_ontology DOID:5809 childhood parosteal osteogenic sarcoma DOID:5809 disease_ontology DOID:581 obsolete gouty nephropathy true DOID:581 A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. GARD:5748 ICD10CM:D81.30 MIM:102700 NCI:C3962 SNOMEDCT_US_2023_03_01:190999009 UMLS_CUI:C0268124 ADA disease_ontology DOID:5810 adenosine deaminase deficiency DOID:5810 A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. url:http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency url:https://pubmed.ncbi.nlm.nih.gov/2166947/ url:https://pubmed.ncbi.nlm.nih.gov/2783588/ ADA A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes. ICD10CM:D81.6 MESH:D016511 MIM:209920 NCI:C3895 SNOMEDCT_US_2023_03_01:71904008 UMLS_CUI:C0242583 BLSII SCID due to absent class II HLA antigens bare lymphocyte syndrome type II disease_ontology DOID:5812 OMIM mapping confirmed by DO. [SN]. MHC class II deficiency DOID:5812 A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes. url:https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-ii url:https://www.omim.org/entry/209920 BLSII A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function. GARD:4606 ICD10CM:D81.5 MESH:C562587 MIM:613179 NCI:C176817 ORDO:760 SNOMEDCT_US_2023_03_01:60743005 UMLS_CUI:C0268125 PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase disease_ontology DOID:5813 OMIM mapping confirmed by DO. [SN]. purine nucleoside phosphorylase deficiency DOID:5813 A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function. url:http://en.wikipedia.org/wiki/Purine_nucleoside_phosphorylase_deficiency url:https://pubmed.ncbi.nlm.nih.gov/1384322/ url:https://pubmed.ncbi.nlm.nih.gov/3029074/ A cerebrum cancer that affects the lymph cells and derives_from the brain. DOID:5814 NCI:C7611 SNOMEDCT_US_2023_03_01:276836002 UMLS_CUI:C0240803 brain primary lymphoma primary Lymphoma of Cerebrum primary cerebral lymphoma disease_ontology DOID:5815 cerebral lymphoma DOID:5815 A cerebrum cancer that affects the lymph cells and derives_from the brain. url:http://en.wikipedia.org/wiki/Primary_central_nervous_system_lymphoma url:http://www.cancer.gov/cancertopics/pdq/treatment/primary-CNS-lymphoma/Patient/page1 url:http://www.nlm.nih.gov/medlineplus/ency/article/000734.htm url:https://www.ncbi.nlm.nih.gov/pubmed/10563426 disease_ontology DOID:5818 obsolete ALPS-associated lymphoma true DOID:5818 disease_ontology DOID:5819 obsolete localized lymphoma true DOID:5819 ICD10CM:R82.3 ICD9CM:791.2 MESH:D006456 NCI:C34677 SNOMEDCT_US_2023_03_01:68600005 UMLS_CUI:C0019048 disease_ontology DOID:582 hemoglobinuria DOID:582 A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time. MESH:D058617 NCI:C38661 SNOMEDCT_US_2023_03_01:1156403002 UMLS_CUI:C0545080 disease_ontology DOID:5820 composite lymphoma DOID:5820 A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time. url:http://www.cancer.gov/dictionary/?CdrID=633086 SNOMEDCT_US_2023_03_01:771073006 UMLS_CUI:C1334749 disease_ontology DOID:5821 methotrexate-associated lymphoproliferation DOID:5821 A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas. GARD:10897 NCI:C37869 SNOMEDCT_US_2023_03_01:722954005 UMLS_CUI:C1333878 disease_ontology DOID:5822 gray zone lymphoma DOID:5822 A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas. url:http://en.wikipedia.org/wiki/Gray_zone_lymphoma NCI:C5165 UMLS_CUI:C1332979 pediatric lymphoma disease_ontology DOID:5823 childhood lymphoma DOID:5823 NCI:C7587 UMLS_CUI:C1332206 disease_ontology DOID:5825 adult lymphoma DOID:5825 A breast cancer that arises_from lymphocytes. SNOMEDCT_US_2023_03_01:278052009 UMLS_CUI:C0349669 Lymphoma of the breast lymphoma of breast malignant lymphoma of breast disease_ontology DOID:5826 breast lymphoma DOID:5826 A breast cancer that arises_from lymphocytes. url:https://www.ncbi.nlm.nih.gov/pubmed/26380896 An ovary adenocarcinoma that has_material_basis_in endometrial tissue. NCI:C7979 SNOMEDCT_US_2023_03_01:254852002 UMLS_CUI:C0346163 Ovarian endometrioid carcinoma endometrioid carcinoma ovary disease_ontology endometrioid carcinoma of ovary DOID:5828 endometrioid ovary carcinoma DOID:5828 An ovary adenocarcinoma that has_material_basis_in endometrial tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/25120828 A uterine ligament adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. NCI:C40138 UMLS_CUI:C5557430 disease_ontology DOID:5829 uterine ligament endometrioid adenocarcinoma DOID:5829 A uterine ligament adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. url:https://journals.sagepub.com/doi/pdf/10.1177/1066896915622690 A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made. ICD10CM:D55-D59 MESH:D000743 NCI:C34376 SNOMEDCT_US_2023_03_01:61261009 UMLS_CUI:C0002878 ANEMIA HEMOLYTIC disease_ontology DOID:583 OMIM mapping by NeuroDevNet, 2024 revised to subtypes. [LS]. hemolytic anemia DOID:583 A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made. url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/hemolytic-anemia A cervical adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. NCI:C6343 UMLS_CUI:C1332913 endometrioid carcinoma of the Cervix Uteri disease_ontology DOID:5830 cervical endometrioid adenocarcinoma DOID:5830 A cervical adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. url:https://www.ncbi.nlm.nih.gov/pubmed/23722512 A fallopian tube adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. DOID:1972 NCI:C40111 NCI:C6279 UMLS_CUI:C1333592 UMLS_CUI:C1517113 endometrioid carcinoma of the fallopian tube fallopian tube endometrioid cancer disease_ontology fallopian tube endometrioid neoplasm DOID:5831 fallopian tube endometrioid adenocarcinoma DOID:5831 A fallopian tube adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. url:https://www.ncbi.nlm.nih.gov/pubmed/8946874 disease_ontology DOID:5832 obsolete metastatic endometrioid carcinoma true DOID:5832 NCI:C39921 SNOMEDCT_US_2023_03_01:9294008 UMLS_CUI:C0334517 spermatocytic seminoma disease_ontology DOID:5834 spermatocytoma DOID:5834 DOID:6136 NCI:C7327 UMLS_CUI:C1333502 primary extragonadal seminoma disease_ontology DOID:5838 extragonadal seminoma DOID:5838 MESH:D018239 NCI:C9309 SNOMEDCT_US_2023_03_01:443675005 UMLS_CUI:C0036631 Seminoma of testis Seminoma testis testicular Seminoma Pure disease_ontology DOID:5842 testis seminoma DOID:5842 NCI:C36068 UMLS_CUI:C3642318 disease_ontology DOID:5843 posteroinferior myocardial infarction DOID:5843 A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia. EFO:0000612 ICD10CM:I21 MESH:D009203 MIM:608557 NCI:C27996 SNOMEDCT_US_2023_03_01:66514008 UMLS_CUI:C0027051 Myocardial infarct heart attack disease_ontology DOID:5844 Xref MGI. myocardial infarction DOID:5844 A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia. url:https://en.wikipedia.org/wiki/Myocardial_infarction url:https://www.ncbi.nlm.nih.gov/pubmed/17951287 MESH:D056988 UMLS_CUI:C0262564 disease_ontology DOID:5845 anterolateral myocardial infarction DOID:5845 UMLS_CUI:C0746727 disease_ontology DOID:5846 septal myocardial infarction DOID:5846 SNOMEDCT_US_2023_03_01:194800006 UMLS_CUI:C0340319 disease_ontology DOID:5847 posterior myocardial infarction DOID:5847 NCI:C36073 UMLS_CUI:C3642319 disease_ontology DOID:5848 apical myocardial infarction DOID:5848 NCI:C35305 UMLS_CUI:C3642476 disease_ontology DOID:5849 subendocardial myocardial infarction DOID:5849 A kidney disease characterized by the formation of stoney concentrations in the kidneys. EFO:0004253 ICD10CM:N20 ICD9CM:592 SNOMEDCT_US_2023_03_01:155867005 UMLS_CUI:C0156257 Stone - kidney/ureter kidney stones disease_ontology DOID:585 OMIM mapping confirmed by DO. [SN]. nephrolithiasis MESH:D053040 DOID:585 A kidney disease characterized by the formation of stoney concentrations in the kidneys. url:https://ghr.nlm.nih.gov/condition/kidney-stones url:https://medlineplus.gov/kidneystones.html url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518455/ MESH:D056989 SNOMEDCT_US_2023_03_01:194804002 UMLS_CUI:C0340305 disease_ontology DOID:5850 inferior myocardial infarction DOID:5850 NCI:C35672 UMLS_CUI:C3642463 disease_ontology DOID:5851 posterolateral myocardial infarction DOID:5851 NCI:C35673 UMLS_CUI:C3537017 disease_ontology DOID:5852 inferolateral myocardial infarct DOID:5852 SNOMEDCT_US_2023_03_01:194801005 UMLS_CUI:C0340312 disease_ontology DOID:5853 lateral myocardial infarction DOID:5853 NCI:C35400 SNOMEDCT_US_2023_03_01:194796000 UMLS_CUI:C0340324 disease_ontology DOID:5854 silent myocardial infarction DOID:5854 MESH:D056988 UMLS_CUI:C0262565 disease_ontology DOID:5855 anteroseptal myocardial infarction DOID:5855 disease_ontology DOID:5857 obsolete secondary chondrosarcoma true DOID:5857 ICDO:9221/3 disease_ontology DOID:5859 periosteal chondrosarcoma DOID:5859 ICDO:9231/3 SNOMEDCT_US_2023_03_01:75622000 UMLS_CUI:C0334551 disease_ontology DOID:5861 myxoid chondrosarcoma DOID:5861 NCI:C8778 UMLS_CUI:C0855011 disease_ontology DOID:5862 localized chondrosarcoma DOID:5862 relapsed chondrosarcoma disease_ontology DOID:5863 obsolete recurrent chondrosarcoma true DOID:5863 disease_ontology DOID:5865 obsolete metastatic chondrosarcoma true DOID:5865 NCI:C7357 SNOMEDCT_US_2023_03_01:26211003 UMLS_CUI:C0334549 disease_ontology DOID:5866 juxtacortical chondrosarcoma DOID:5866 ICDO:9242/3 MESH:D000077207 NCI:C6475 SNOMEDCT_US_2023_03_01:128775007 UMLS_CUI:C1266167 disease_ontology DOID:5867 clear cell chondrosarcoma DOID:5867 A pulmonary tuberculosis characterized by tubercles formation which coalesce into consolidated areas. Caseation and softening of these areas, with involvement of the interstitial tissue, lead to the formation of a cavity. The symptoms include fever, increased cough and sputum. cavitary tuberculosis tuberculous cavity of lung disease_ontology DOID:587 obsolete tuberculous lung cavity true DOID:587 A pulmonary tuberculosis characterized by tubercles formation which coalesce into consolidated areas. Caseation and softening of these areas, with involvement of the interstitial tissue, lead to the formation of a cavity. The symptoms include fever, increased cough and sputum. url:http://www.bmj.com/cgi/reprint/1/4177/115.pdf A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night. GARD:107 ICD10CM:J82.81 MESH:D011657 NCI:C35150 SNOMEDCT_US_2023_03_01:196145005 UMLS_CUI:C1527407 Pneumonia, eosinophilic disease_ontology DOID:5870 eosinophilic pneumonia DOID:5870 A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night. url:http://en.wikipedia.org/wiki/Eosinophilic_pneumonia disease_ontology DOID:5872 obsolete placental necrosis true DOID:5872 NCI:C6447 UMLS_CUI:C1335776 germ cell tumor of Retroperitoneum disease_ontology DOID:5874 retroperitoneal germ cell neoplasm DOID:5874 A thoracic cancer located_in the retroperitoneal space in the abdominal cavity behind the peritoneum. DOID:12340 DOID:9860 ICD10CM:C48 ICD10CM:C48.0 ICD9CM:158 ICD9CM:158.0 MESH:D012186 NCI:C3357 NCI:C3537 SNOMEDCT_US_2023_03_01:187801002 SNOMEDCT_US_2023_03_01:254617008 SNOMEDCT_US_2023_03_01:363420003 UMLS_CUI:C0035358 UMLS_CUI:C0153464 UMLS_CUI:C0153465 malignant neoplasm of retroperitoneum and peritoneum malignant tumor of peritoneum and retroperitoneum neoplasm of retroperitoneum neoplasm of the retroperitoneum retroperitoneal neoplasm tumor of retroperitoneum disease_ontology malignant neoplasm of retroperitoneum malignant retroperitoneal cancer DOID:5875 retroperitoneal cancer DOID:5875 A thoracic cancer located_in the retroperitoneal space in the abdominal cavity behind the peritoneum. url:http://en.wikipedia.org/wiki/Retroperitoneal_space NCI:C6798 UMLS_CUI:C1332318 Apocrine tumor disease_ontology DOID:5876 apocrine sweat gland neoplasm DOID:5876 DOID:14538 NCI:C4570 NCI:C5346 SNOMEDCT_US_2023_03_01:126731002 SNOMEDCT_US_2023_03_01:363436001 UMLS_CUI:C0346612 UMLS_CUI:C1290401 malignant Endocardial tumor malignant neoplasm of endocardium malignant tumor of endocardium disease_ontology DOID:5877 endocardium cancer DOID:5877 NCI:C7635 SNOMEDCT_US_2023_03_01:734100004 UMLS_CUI:C1337012 Well-differentiated Papillary tumor of Mesothelium disease_ontology DOID:5884 benign intermediate mesothelioma DOID:5884 mixed Embryonal carcinoma and teratoma with Seminoma of testis disease_ontology DOID:5886 obsolete mixed embryonal carcinoma and teratoma with seminoma of the testis true DOID:5886 disease_ontology DOID:5888 obsolete congenital cystic kidney disease true DOID:5888 ICDO:9392/3 Ependymoma, anaplastic Undifferentiated Ependymoma disease_ontology DOID:5889 anaplastic ependymoma DOID:5889 GARD:6167 ICD10CM:D58.9 ICD9CM:282 MESH:D000745 NCI:C34379 SNOMEDCT_US_2023_03_01:42601008 UMLS_CUI:C0002881 congenital hemolytic anaemia hereditary hemolytic anaemia hereditary hemolytic anemia disease_ontology DOID:589 congenital hemolytic anemia DOID:589 NCI:C8269 UMLS_CUI:C0280787 disease_ontology DOID:5890 malignant adult ependymoma DOID:5890 NCI:C8097 UMLS_CUI:C0279991 disease_ontology DOID:5893 childhood malignant mesenchymoma DOID:5893 NCI:C7947 UMLS_CUI:C0279548 disease_ontology DOID:5894 adult malignant mesenchymoma DOID:5894 A cystadenofibroma that is characterized by the presence of cells with clear cytoplasm. NCI:C8988 SNOMEDCT_US_2023_03_01:58161009 UMLS_CUI:C1377853 disease_ontology DOID:5895 clear cell cystadenofibroma DOID:5895 A cystadenofibroma that is characterized by the presence of cells with clear cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/514560 An ovarian clear cell adenofibroma that is characterized by the presence of cysts and/or cystic spaces. NCI:C40086 UMLS_CUI:C1518695 disease_ontology DOID:5896 ovarian clear cell cystadenofibroma DOID:5896 An ovarian clear cell adenofibroma that is characterized by the presence of cysts and/or cystic spaces. url:https://www.ncbi.nlm.nih.gov/pubmed/6692303 An ovarian benign neoplasm that is characterized by the presence of serous fluid and has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. NCI:C40085 UMLS_CUI:C1518694 disease_ontology DOID:5897 ovarian clear cell adenofibroma DOID:5897 An ovarian benign neoplasm that is characterized by the presence of serous fluid and has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. url:https://www.ncbi.nlm.nih.gov/pubmed/28861185 A central nervous system benign neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. ICDO:8728/1 NCI:C4662 ORDO:252046 SNOMEDCT_US_2023_03_01:128730009 UMLS_CUI:C1266113 Leptomeningeal melanocytoma melanocytoma of meninges disease_ontology DOID:5900 meningeal melanocytoma DOID:5900 A central nervous system benign neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. url:https://radiopaedia.org/articles/meningeal-melanocytosis?lang=us NCI:C27791 UMLS_CUI:C1334984 Non-Invasive Penile verrucous carcinoma disease_ontology DOID:5907 penis non-invasive verrucous carcinoma DOID:5907 NCI:C6982 UMLS_CUI:C1336955 verrucous squamous carcinoma of penis disease_ontology DOID:5908 penis verrucous carcinoma DOID:5908 An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation. ICD10CM:F40 ICD9CM:300.20 MESH:D010698 NCI:C35420 SNOMEDCT_US_2023_03_01:52039009 UMLS_CUI:C0349231 disease_ontology DOID:591 phobic disorder DOID:591 An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation. url:http://en.wikipedia.org/wiki/Anxiety_disorder NCI:C5823 UMLS_CUI:C1332602 tumor of the Brachial Plexus disease_ontology DOID:5913 brachial plexus neoplasm DOID:5913 A papillary thyroid carcinoma that is characterized by diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration. ICDO:8350/3 NCI:C7427 SNOMEDCT_US_2023_03_01:62681000 UMLS_CUI:C0334330 Diffuse Sclerosing Variant Thyroid Gland Papillary Carcinoma Diffuse sclerosing papillary thyroid cancer (DSPTC) Nonencapsulated Sclerosing neoplasm Papillary carcinoma, diffuse sclerosing diffuse sclerosing PTC nonencapsulated sclerosing carcinoma disease_ontology DOID:5914 diffuse sclerosing papillary thyroid carcinoma DOID:5914 A papillary thyroid carcinoma that is characterized by diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration. url:https://pubmed.ncbi.nlm.nih.gov/36546348/ url:https://pubmed.ncbi.nlm.nih.gov/36995892/ An uterine corpus leiomyomatosis that is located_in the blood vessels. Intravascular leiomyomatosis of Uterus disease_ontology DOID:5915 uterus intravascular leiomyomatosis DOID:5915 An uterine corpus leiomyomatosis that is located_in the blood vessels. url:https://www.ncbi.nlm.nih.gov/pubmed/8950762 An uterine benign neoplasm that is characterized by the presence of multiple tumors composed of smooth muscle cells. NCI:C40170 UMLS_CUI:C1519855 disease_ontology DOID:5916 uterine corpus leiomyomatosis DOID:5916 An uterine benign neoplasm that is characterized by the presence of multiple tumors composed of smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/23383444 url:https://www.uptodate.com/contents/variants-of-uterine-leiomyomas-fibroids An uterine corpus leiomyomatosis that is located throughout the uterine corpus. disease_ontology DOID:5917 uterine corpus diffuse leiomyomatosis DOID:5917 An uterine corpus leiomyomatosis that is located throughout the uterine corpus. url:https://www.ncbi.nlm.nih.gov/pubmed/18754301 localized Unresectable adult Liver carcinoma disease_ontology DOID:5918 obsolete localized unresectable adult primary liver cancer true DOID:5918 disease_ontology DOID:5919 obsolete localized unresectable adult primary hepatoma true DOID:5919 disease_ontology DOID:5920 obsolete malignant fibrous histiocytoma metastatic true DOID:5920 NCI:C9371 UMLS_CUI:C1377915 adult brain stem mixed glioma disease_ontology DOID:5921 adult brainstem mixed glioma DOID:5921 NCI:C6954 UMLS_CUI:C1332191 disease_ontology DOID:5922 adult brainstem astrocytoma DOID:5922 NCI:C7109 UMLS_CUI:C1333308 carcinoma of the Distal biliary tract disease_ontology DOID:5923 distal biliary tract carcinoma DOID:5923 recurrent extrahepatic bile duct carcinoma disease_ontology DOID:5924 obsolete recurrent extrahepatic bile duct cancer true DOID:5924 NCI:C5845 UMLS_CUI:C1335979 Oat cell extrahepatic bile duct carcinoma disease_ontology DOID:5926 extrahepatic bile duct small cell adenocarcinoma DOID:5926 Autosomal Recessive Polycystic kidney disease Polycystic kidney disease, infantile type (disorder) Polycystic kidney, autosomal recessive disease_ontology DOID:5928 obsolete autosomal recessive polycystic kidney true DOID:5928 A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. ICD10CM:F40.0 MESH:D000379 NCI:C34362 SNOMEDCT_US_2023_03_01:154885006 UMLS_CUI:C0001818 Fear of open spaces disease_ontology DOID:593 agoraphobia DOID:593 A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. url:http://en.wikipedia.org/wiki/Anxiety_disorder Unresectable extrahepatic bile duct carcinoma disease_ontology DOID:5931 obsolete unresectable extrahepatic bile duct cancer true DOID:5931 Resectable bile duct cancer disease_ontology DOID:5933 obsolete resectable bile duct cancer true DOID:5933 localized extrahepatic bile duct carcinoma disease_ontology DOID:5934 obsolete localized extrahepatic bile duct cancer true DOID:5934 An ovarian primitive germ cell tumor that is characterized by the presence of two or more types of malignant, primitive, germ cell components. NCI:C8114 UMLS_CUI:C0280135 mixed germ cell tumor of Ovary disease_ontology DOID:5936 ovarian mixed germ cell neoplasm DOID:5936 An ovarian primitive germ cell tumor that is characterized by the presence of two or more types of malignant, primitive, germ cell components. url:https://www.ncbi.nlm.nih.gov/pubmed/25366470 Polycystic kidney disease, adult type (disorder) Polycystic kidney, autosomal dominant disease_ontology DOID:5937 obsolete autosomal dominant polycystic kidney true DOID:5937 An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress. EFO:0004262 ICD10CM:F41.0 MESH:D016584 MIM:167870 MIM:607853 MIM:609985 NCI:C34890 SNOMEDCT_US_2023_03_01:191705007 UMLS_CUI:C0030319 panic anxiety syndrome disease_ontology DOID:594 Xref MGI. panic disorder DOID:594 An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress. url:http://www.nimh.nih.gov/health/topics/panic-disorder/index.shtml GARD:10872 ICDO:9540/3 MESH:D018319 NCI:C3798 SNOMEDCT_US_2023_03_01:134324009 UMLS_CUI:C0751690 malignant neoplasm of the peripheral nerve Sheath disease_ontology DOID:5940 malignant peripheral nerve sheath tumor DOID:5940 disease_ontology DOID:5941 obsolete lung carcinoma metastatic to the brain true DOID:5941 NCI:C3927 SNOMEDCT_US_2023_03_01:62727008 UMLS_CUI:C0263640 disease_ontology DOID:5948 angiokeratoma of mibelli DOID:5948 NCI:C7751 SNOMEDCT_US_2023_03_01:21848000 UMLS_CUI:C0263638 disease_ontology DOID:5949 angiokeratoma circumscriptum DOID:5949 NCI:C39845 UMLS_CUI:C1511206 disease_ontology DOID:5957 bladder urachal squamous cell carcinoma DOID:5957 MESH:C536475 NCI:C39842 UMLS_CUI:C2931202 urachal cancer disease_ontology DOID:5958 bladder urachal carcinoma DOID:5958 disease_ontology DOID:5963 obsolete schistosoma hematobium-related bladder squamous cell carcinoma true DOID:5963 A papillary carcinoma that is located_in the kidney pelvis. NCI:C6148 UMLS_CUI:C1377909 Papillary carcinoma of renal Pelvis disease_ontology DOID:5973 kidney pelvis papillary carcinoma DOID:5973 A papillary carcinoma that is located_in the kidney pelvis. url:https://www.ncbi.nlm.nih.gov/pubmed/13056223 NCI:C7355 Urothelial cell carcinoma of renal Pelvis disease_ontology DOID:5974 renal pelvis transitional cell carcinoma DOID:5974 NCI:C8603 UMLS_CUI:C0853688 Papillary neoplasm of renal Pelvis disease_ontology DOID:5975 renal pelvis papillary tumor DOID:5975 DOID:10961 DOID:1547 ICD10CM:I65.9 ICD9CM:433.9 UMLS_CUI:C0155727 disease_ontology Occlusion and stenosis of multiple and bilateral precerebral arteries occlusion and stenosis of precerebral artery DOID:5976 occlusion precerebral artery DOID:5976 NCI:C8404 SNOMEDCT_US_2023_03_01:126881002 UMLS_CUI:C0346260 neoplasm of renal pelvis tumor of kidney Pelvis tumor of renal pelvis disease_ontology DOID:5977 renal pelvis benign neoplasm DOID:5977 A human papillomavirus related squamous cell carcinoma that results_in infection located_in vulva, has_material_basis_in human papillomavirus (type16 and 18), which cause malignant tumors in squamous epithelium of the vulva. DOID:5978 HPV-Related Vulvar squamous cell carcinoma vulvar condylomatous carcinoma disease_ontology DOID:5979 obsolete human papilloma virus related vulvar squamous cell carcinoma true DOID:5979 A human papillomavirus related squamous cell carcinoma that results_in infection located_in vulva, has_material_basis_in human papillomavirus (type16 and 18), which cause malignant tumors in squamous epithelium of the vulva. url:http://cebp.aacrjournals.org/content/18/7/2061.abstract url:http://emedicine.medscape.com/article/219110-overview Undifferentiated Hemispheric astrocytoma disease_ontology DOID:5980 obsolete hemispheric anaplastic astrocytoma true DOID:5980 Hypothalamic hamartoma hamartoma of hypothalamus (disorder) disease_ontology DOID:5981 obsolete hamartoma of hypothalamus true DOID:5981 NCI:C7726 UMLS_CUI:C0238208 Fibrosarcoma of the kidney disease_ontology DOID:5982 kidney fibrosarcoma DOID:5982 A kidney sarcoma that starts in the bones and that is located in the kidney. NCI:C6181 UMLS_CUI:C1335747 renal Osteogenic sarcoma disease_ontology DOID:5983 kidney osteogenic sarcoma DOID:5983 A kidney sarcoma that starts in the bones and that is located in the kidney. url:https://www.ncbi.nlm.nih.gov/pubmed/1768219 disease_ontology DOID:5989 obsolete clear cell myomelanocytic tumor of the Falciform Ligament/Ligamentum Teres true DOID:5989 A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations. ICD10CM:F40.2 MESH:C562465 MIM:608251 NCI:C35284 SNOMEDCT_US_2023_03_01:54587008 UMLS_CUI:C0236801 simple phobia disease_ontology DOID:599 specific phobia DOID:599 A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations. url:http://en.wikipedia.org/wiki/Specific_phobia NCI:C5307 UMLS_CUI:C1334227 meningioma of the Internal Auditory canal disease_ontology DOID:5990 internal auditory canal meningioma DOID:5990 disease_ontology DOID:5991 obsolete early onset breast ovarian cancer syndrome true DOID:5991 disease_ontology DOID:5996 obsolete blunt duct adenosis of breast true DOID:5996 A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia. NCI:C6943 UMLS_CUI:C1332628 Non-Proliferative Fibrocystic Change disease_ontology DOID:5997 non-proliferative fibrocystic change of the breast DOID:5997 A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia. url:https://www.ncbi.nlm.nih.gov/pubmed/27483712 A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane. MESH:D005348 NCI:C3484 SNOMEDCT_US_2023_03_01:270893004 UMLS_CUI:C0085750 Adenosis - breast Adenosis of the breast disease_ontology DOID:5998 microglandular adenosis DOID:5998 A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148517/ A non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change. NCI:C5198 UMLS_CUI:C1332314 Apocrine Adenosis of the breast disease_ontology DOID:5999 apocrine adenosis of breast DOID:5999 A non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change. url:https://www.ncbi.nlm.nih.gov/pubmed/20123450 A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all. MESH:C000719220 NCI:C35273 SNOMEDCT_US_2023_03_01:54307006 UMLS_CUI:C0233711 Fear of animals Zoophobia disease_ontology DOID:600 animal phobia DOID:600 A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all. url:http://hubpages.com/hub/list-of-animal-phobias A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. DOID:395 ICD10CM:I50 ICD10CM:I50.9 ICD9CM:428 ICD9CM:428.0 MESH:D006333 NCI:C3080 NCI:C50577 SNOMEDCT_US_2023_03_01:155374007 SNOMEDCT_US_2023_03_01:195108009 UMLS_CUI:C0018801 UMLS_CUI:C0018802 CHF Cardiac Failure Congestive Congestive heart disease Weak heart disease_ontology DOID:6000 congestive heart failure DOID:6000 A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. url:http://en.wikipedia.org/wiki/Heart_disease CHF A gastrointestinal system disease that is located_in the appendix. disease_ontology DOID:60000 appendix disease DOID:60000 A gastrointestinal system disease that is located_in the appendix. url:https://en.wikipedia.org/wiki/Appendix url:https://www.ncbi.nlm.nih.gov/pubmed/15807474 An artery disease that is located in the lungs. disease_ontology DOID:60001 pulmonary artery disease DOID:60001 An artery disease that is located in the lungs. url:https://www.ncbi.nlm.nih.gov/pubmed/23737196 A female reproductive system disease that is located in Bartholin's gland. disease_ontology DOID:60002 Bartholin's gland disease DOID:60002 A female reproductive system disease that is located in Bartholin's gland. url:https://www.ncbi.nlm.nih.gov/pubmed/26195958 A vulva cancer that is located in Bartholin's gland. disease_ontology DOID:60003 Bartholin's gland cancer DOID:60003 A vulva cancer that is located in Bartholin's gland. url:https://en.wikipedia.org/wiki/Bartholin_gland_carcinoma disease_ontology DOID:60004 malignant cystadenoma DOID:60004 disease_ontology DOID:60006 benign vascular tumor DOID:60006 A cardiovascular organ benign neoplasm that is located_in the cerebrovascular system. disease_ontology DOID:60007 cerebrovascular benign neoplasm DOID:60007 A cardiovascular organ benign neoplasm that is located_in the cerebrovascular system. url:https://en.wikipedia.org/wiki/Cerebral_circulation url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/benign-vascular-tumor An endocrine organ benign neoplasm that is located_in some parathyroid gland. disease_ontology DOID:60008 parathyroid gland benign neoplasm DOID:60008 An endocrine organ benign neoplasm that is located_in some parathyroid gland. url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/parathyroid-tumor A benign neoplasm located in the pituitary gland. disease_ontology DOID:60009 pituitary gland benign neoplasm DOID:60009 A benign neoplasm located in the pituitary gland. url:https://www.mayoclinic.org/diseases-conditions/pituitary-tumors/symptoms-causes/syc-20350548 A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. NCI:C5185 UMLS_CUI:C1332630 Fibrosarcoma of the breast disease_ontology DOID:6001 breast fibrosarcoma DOID:6001 A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. url:https://en.wikipedia.org/wiki/Fibrosarcoma An aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. NCI:C4983 UMLS_CUI:C0887846 disease_ontology DOID:6003 aleukemic leukemia cutis DOID:6003 An aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4983 A leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood. NCI:C4982 SNOMEDCT_US_2023_03_01:154602005 UMLS_CUI:C0877858 disease_ontology aleukemic myelosis DOID:6004 aleukemic leukemia DOID:6004 A leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood. url:http://www.merriam-webster.com/medical/aleukemic%20leukemia url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4982 Embryonal carcinoma of mediastinum disease_ontology embryonal carcinoma of the mediastinum DOID:6013 obsolete mediastinum embryonal carcinoma true DOID:6013 DOID:5558 germ cell tumor of mediastinum malignant germ cell tumor of mediastinum mediastinal germ cell neoplasm disease_ontology DOID:6014 obsolete mediastinal germ cell cancer true DOID:6014 NCI:C5794 UMLS_CUI:C1370506 teratoma of the adult central nervous system disease_ontology DOID:6015 adult central nervous system teratoma DOID:6015 NCI:C27400 UMLS_CUI:C1332194 disease_ontology DOID:6016 adult central nervous system mature teratoma DOID:6016 A mature teratoma that is located_in the central nervous system. NCI:C7013 UMLS_CUI:C1332886 Mature teratoma of the CNS disease_ontology DOID:6017 central nervous system mature teratoma DOID:6017 A mature teratoma that is located_in the central nervous system. url:https://www.ncbi.nlm.nih.gov/pubmed/21150046 NCI:C27401 UMLS_CUI:C1332193 disease_ontology DOID:6018 adult central nervous system immature teratoma DOID:6018 A malignant teratoma that is located_in the central nervous system. NCI:C7014 UMLS_CUI:C1332883 Immature teratoma of the CNS disease_ontology DOID:6019 central nervous system immature teratoma DOID:6019 A malignant teratoma that is located_in the central nervous system. url:https://www.ncbi.nlm.nih.gov/pubmed/21150046 NCI:C35492 SNOMEDCT_US_2023_03_01:34563004 UMLS_CUI:C0233705 Fear of getting cancer cancer phobia disease_ontology DOID:602 cancerophobia DOID:602 disease_ontology DOID:6020 obsolete metastatic MPNST true DOID:6020 disease_ontology DOID:6021 obsolete malignant testicular Leydig cell tumor true DOID:6021 melanoma of the CNS disease_ontology DOID:6022 obsolete central nervous system melanoma true DOID:6022 metastatic tumor to the Parathyroid disease_ontology DOID:6023 obsolete metastasis to the parathyroid gland true DOID:6023 A dysgammaglobulinemia that is characterized by isolated deficiency of IgE and subsequent mildly increased susceptibility to parasitic infections and allergic or autoimmune-related diseases. NCI:C27143 SNOMEDCT_US_2023_03_01:234540007 UMLS_CUI:C0398694 Selective IgE Immunodeficiency Selective immunoglobulin E deficiency disease_ontology DOID:6024 selective IgE deficiency disease DOID:6024 A dysgammaglobulinemia that is characterized by isolated deficiency of IgE and subsequent mildly increased susceptibility to parasitic infections and allergic or autoimmune-related diseases. url:https://www.ncbi.nlm.nih.gov/pubmed/24717782 url:https://www.ncbi.nlm.nih.gov/pubmed/28778662 A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. NCI:C27870 UMLS_CUI:C1335942 disease_ontology DOID:6025 selective immunoglobulin deficiency disease DOID:6025 A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27870 url:https://www.ncbi.nlm.nih.gov/books/NBK507905/ NCI:C35614 UMLS_CUI:C0853870 disease_ontology DOID:603 AIDS phobia DOID:603 Disseminated squamous cell carcinoma (morphologic abnormality) disease_ontology DOID:6031 obsolete disseminated squamous cell carcinoma true DOID:6031 DOID:5332 NCI:C39947 NCI:C4207 SNOMEDCT_US_2023_03_01:189735004 UMLS_CUI:C0334403 UMLS_CUI:C1515285 Juvenile granulosa cell tumor Juvenile granulosa cell tumour Juvenile type Granulosa cell tumor Juvenile type Granulosa cell tumour juvenile type granulosa cell neoplasm juvenile type testicular granulosa cell tumour disease_ontology DOID:6032 juvenile type testicular granulosa cell tumor DOID:6032 NCI:C5361 UMLS_CUI:C1332844 Fibrosarcoma of the Heart cardiac fibrosarcoma disease_ontology DOID:6033 heart fibrosarcoma DOID:6033 A heart sarcoma that is a soft tissue sarcoma located in the heart. NCI:C5365 UMLS_CUI:C1334567 malignant hemangiopericytoma of Heart disease_ontology DOID:6034 heart malignant hemangiopericytoma DOID:6034 A heart sarcoma that is a soft tissue sarcoma located in the heart. url:https://www.ncbi.nlm.nih.gov/pubmed/16434949 An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells. NCI:C7986 UMLS_CUI:C0279687 Uveal spindle cell melanoma disease_ontology DOID:6037 spindle cell intraocular melanoma DOID:6037 An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells. url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page3 A uveal cancer that has_material_basis_in uvea pigment cells. MESH:C536494 MIM:155720 MIM:606660 MIM:606661 NCI:C7712 ORDO:39044 UMLS_CUI:C0220633 melanoma of Uvea disease_ontology DOID:6039 Xref MGI. OMIM mapping confirmed by DO. [SN]. uveal melanoma DOID:6039 A uveal cancer that has_material_basis_in uvea pigment cells. url:http://cancergenome.nih.gov/cancersselected/UvealMelanoma url:http://en.wikipedia.org/wiki/Uveal_melanoma A malignant choroid melanoma that is located_in the choroid. NCI:C6099 UMLS_CUI:C1333027 spindle cell melanoma of the Choroid disease_ontology DOID:6041 choroid spindle cell melanoma DOID:6041 A malignant choroid melanoma that is located_in the choroid. url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/allpages/print A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles. NCI:C6117 UMLS_CUI:C1333052 spindle cell melanoma of the Ciliary body disease_ontology DOID:6043 ciliary body spindle cell melanoma DOID:6043 A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles. url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3968473/ url:https://www.ncbi.nlm.nih.gov/pubmed/17545559/ A Human immunodeficiency virus infectious disease that results_in microvascular changes located_in retina, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cotton-wool spots, has_symptom retinal hemorrhages, and has_symptom microaneurysms. disease_ontology DOID:6045 obsolete AIDS retinopathy true DOID:6045 A Human immunodeficiency virus infectious disease that results_in microvascular changes located_in retina, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom cotton-wool spots, has_symptom retinal hemorrhages, and has_symptom microaneurysms. url:http://books.google.com/books?id=GP0MEhqMvusC&pg=PA146&lpg=PA146&dq url:http://www.ophthobook.com/chapters/infections NCI:C5345 UMLS_CUI:C1336699 disease_ontology DOID:6048 telangiectatic glomangioma DOID:6048 A specific phobia that is characterized by a fear of flying. ICD10CM:F40.243 MESH:C000719189 NCI:C35413 SNOMEDCT_US_2023_03_01:247854002 UMLS_CUI:C0344318 disease_ontology DOID:605 flying phobia DOID:605 A specific phobia that is characterized by a fear of flying. url:http://en.wikipedia.org/wiki/Fear_of_flying A gastrointestinal system disease that is located_in the esophagus. DOID:10117 DOID:10118 DOID:11798 ICD10CM:K22.9 ICD9CM:530.9 MESH:D004935 NCI:C3027 SNOMEDCT_US_2023_03_01:266497000 UMLS_CUI:C0014852 esophageal Ulcer disease_ontology DOID:6050 esophageal disease DOID:6050 A gastrointestinal system disease that is located_in the esophagus. url:http://en.wikipedia.org/wiki/Esophageal_disease NCI:C6205 UMLS_CUI:C0278754 central nervous system childhood germ cell tumour paediatric germ cell neoplasm of CNS pediatric germ cell neoplasm of CNS disease_ontology DOID:6052 central nervous system childhood germ cell tumor DOID:6052 A germ cell cancer that presents in childhood. NCI:C7928 UMLS_CUI:C0279014 paediatric germ cell cancer paediatric germ cell neoplasm pediatric germ cell cancer pediatric germ cell neoplasm disease_ontology pediatric germ cell tumor DOID:6053 childhood germ cell cancer DOID:6053 A germ cell cancer that presents in childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/23559398 NCI:C6837 UMLS_CUI:C1333645 Schneiderian papilloma of the Frontal sinus disease_ontology DOID:6054 frontal sinus Schneiderian papilloma DOID:6054 Schneiderian papilloma of Accessory sinus disease_ontology DOID:6055 obsolete paranasal sinus Schneiderian papilloma true DOID:6055 NCI:C4369 SNOMEDCT_US_2023_03_01:232364006 UMLS_CUI:C0339826 papilloma of nasal vestibule squamous papilloma of the nasal Vestibule disease_ontology DOID:6059 nasal vestibule papilloma DOID:6059 GARD:5964 ICD10CM:G83.81 MESH:D018437 NCI:C84601 SNOMEDCT_US_2023_03_01:27982003 UMLS_CUI:C0242644 Brown-Squard syndrome disease_ontology DOID:606 Brown-Sequard syndrome DOID:606 NCI:C39854 UMLS_CUI:C1518361 disease_ontology DOID:6065 urinary tract non-invasive transitional cell neoplasm DOID:6065 An ovary epithelial cancer that is characterized by the presence of mucin. DOID:3712 NCI:C40033 NCI:C5242 SNOMEDCT_US_2023_03_01:189683008 UMLS_CUI:C1335168 UMLS_CUI:C1518233 Ovarian mucinous tumor malignant ovarian mucinous neoplasm mucinous tumor of Ovary disease_ontology DOID:6067 ovarian mucinous neoplasm DOID:6067 An ovary epithelial cancer that is characterized by the presence of mucin. url:https://en.wikipedia.org/wiki/Ovarian_mucinous_tumor GARD:7327 ICD10CM:G82.2 ICD9CM:344.1 MESH:D010264 NCI:C50687 SNOMEDCT_US_2023_03_01:155031004 UMLS_CUI:C0030486 Paraplegia, lower disease_ontology DOID:607 paraplegia DOID:607 disease_ontology DOID:6071 obsolete resectable duodenal carcinoma true DOID:6071 disease_ontology DOID:6077 obsolete localized malignant mesothelioma true DOID:6077 disease_ontology DOID:6078 obsolete secondary malignant neoplasm to the nervous system true DOID:6078 Drop metastatic tumor to the Spinal Cord disease_ontology DOID:6079 obsolete drop secondary malignant neoplasm to the spinal cord true DOID:6079 metastatic tumor to the Spinal Cord secondary malignant neoplasm of spinal cord (disorder) disease_ontology DOID:6080 obsolete spinal cord secondary cancer true DOID:6080 pediatric testicular Yolk Sac tumor disease_ontology DOID:6081 obsolete childhood testicular endodermal sinus neoplasm true DOID:6081 NCI:C6552 UMLS_CUI:C0796663 paediatric testicular germ cell neoplasm paediatric testicular germ cell tumour pediatric testicular germ cell neoplasm pediatric testicular germ cell tumor disease_ontology DOID:6082 childhood testicular germ cell tumor DOID:6082 An ovarian endodermal sinus tumor that presents in childhood. NCI:C6551 UMLS_CUI:C1332993 childhood ovarian endodermal sinus neoplasm childhood ovarian endodermal sinus tumour childhood ovarian yolk sac tumor childhood ovarian yolk sac tumour paediatric Ovarian Yolk Sac tumour pediatric Ovarian Yolk Sac tumor disease_ontology DOID:6083 childhood ovarian endodermal sinus tumor DOID:6083 An ovarian endodermal sinus tumor that presents in childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/8649322 url:https://www.ncbi.nlm.nih.gov/pubmed/9949591 An ovarian germ cell cancer that presents in childhood. NCI:C8588 UMLS_CUI:C0796664 paediatric Ovarian germ cell neoplasm paediatric ovarian germ cell tumour pediatric Ovarian germ cell neoplasm pediatric ovarian germ cell tumor disease_ontology DOID:6084 childhood ovarian germ cell tumor DOID:6084 An ovarian germ cell cancer that presents in childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/24395845 ICDO:8720/3 NCI:C5317 SNOMEDCT_US_2023_03_01:726420002 UMLS_CUI:C1334386 melanoma of the leptomeninges disease_ontology DOID:6085 meningeal melanoma DOID:6085 NCI:C8506 UMLS_CUI:C1334596 leptomeningeal cancer malignant leptomeningeal tumor malignant leptomeningeal tumour malignant tumor of Leptomeninges malignant tumour of Leptomeninges disease_ontology DOID:6086 malignant leptomeningeal neoplasm DOID:6086 disease_ontology DOID:6087 obsolete predominant disturbance of emotions true DOID:6087 An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD. ICD9CM:308.3 SNOMEDCT_US_2023_03_01:192043003 UMLS_CUI:C0029488 traumatic stress disorder disease_ontology DOID:6088 acute stress disorder DOID:6088 An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD. url:http://ptsd.about.com/od/causesanddevelopment/a/acutestress.htm NCI:C5318 UMLS_CUI:C1332976 pediatric leptomeningeal melanoma disease_ontology DOID:6089 childhood leptomeningeal melanoma DOID:6089 disease_ontology DOID:609 obsolete skin abnormality true DOID:609 NCI:C5319 UMLS_CUI:C1332204 melanoma of adult Leptomeninges disease_ontology DOID:6090 adult leptomeningeal melanoma DOID:6090 disease_ontology DOID:6091 obsolete ampulla of vater intestinal type adenocarcinoma true DOID:6091 DOID:6096 NCI:C4576 NCI:C6221 SNOMEDCT_US_2023_03_01:188287005 UMLS_CUI:C0346902 UMLS_CUI:C1336733 malignant neoplasm of thalamus malignant tumor of Thalamus tumor of Thalamus disease_ontology DOID:6098 thalamic neoplasm DOID:6098 DOID:11505 DOID:58 DOID:59 ICD10CM:I05 ICD10CM:I05.1 ICD9CM:394 ICD9CM:394.1 ICD9CM:424.0 NCI:C78446 SNOMEDCT_US_2023_03_01:11851006 SNOMEDCT_US_2023_03_01:155278007 SNOMEDCT_US_2023_03_01:83898004 UMLS_CUI:C0026265 UMLS_CUI:C0155563 UMLS_CUI:C0264765 Mitral RH valve dis. Rheumatic mitral insufficiency Rheumatic mitral valve changes Rheumatic mitral valve regurgitation chronic rheumatic mitral valve disease of mitral valve rheumatic disease of mitral valve rheumatic mitral valve incompetence disease_ontology DOID:61 mitral valve disease DOID:61 A cervical mucinous adenocarcinoma that is characterized by the presence of signet ring cells. NCI:C40205 UMLS_CUI:C1516424 disease_ontology DOID:6101 signet ring cell variant cervical mucinous adenocarcinoma DOID:6101 A cervical mucinous adenocarcinoma that is characterized by the presence of signet ring cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802128/ A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus (Simplexvirus humanalpha1 or Simplexvirus humanalpha2). NCI:C27341 UMLS_CUI:C1333996 herpes gastritis disease_ontology DOID:6102 herpetic gastritis DOID:6102 A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus (Simplexvirus humanalpha1 or Simplexvirus humanalpha2). url:https://www.ncbi.nlm.nih.gov/pubmed/1063088 NCI:C5297 UMLS_CUI:C1336738 meningioma of the Thoracic Spinal canal and Spinal Cord disease_ontology DOID:6103 thoracic spinal canal and spinal cord meningioma DOID:6103 Teratocarcinoma of mediastinum disease_ontology DOID:6104 obsolete mixed embryonal carcinoma and teratoma of the mediastinum true DOID:6104 malignant mediastinal teratoma malignant teratoma of mediastinum (disorder) disease_ontology DOID:6105 obsolete mediastinum malignant teratoma true DOID:6105 mixed Non-Seminomatous germ cell tumor of mediastinum disease_ontology DOID:6107 obsolete mediastinal mixed non-seminomatous germ cell tumor true DOID:6107 mesenchymal hamartoma of Liver disease_ontology DOID:6108 obsolete mesenchymal hamartoma of the liver true DOID:6108 disease_ontology DOID:6109 obsolete hepatic and intrahepatic bile duct non-epithelial neoplasm true DOID:6109 disease_ontology DOID:611 obsolete leukocyte-adhesion deficiency syndrome true DOID:611 NCI:C5293 UMLS_CUI:C1334298 meningioma of the Jugular Foramen disease_ontology DOID:6110 jugular foramen meningioma DOID:6110 tumor of Jugular Foramen disease_ontology DOID:6111 obsolete jugular foramen neoplasm true DOID:6111 NCI:C4807 SNOMEDCT_US_2023_03_01:189164002 UMLS_CUI:C0542564 meningioma of Cerebrum disease_ontology DOID:6112 cerebral meningioma DOID:6112 NCI:C5269 UMLS_CUI:C1334236 disease_ontology DOID:6113 intracerebral cystic meningioma DOID:6113 MESH:D008579 NCI:C4959 UMLS_CUI:C0751303 Cerebral Hemispheric Convexity meningioma disease_ontology DOID:6114 cerebral convexity meningioma DOID:6114 NCI:C5302 UMLS_CUI:C1334380 meningioma of the Lateral Ventricle disease_ontology DOID:6115 lateral ventricle meningioma DOID:6115 NCI:C6187 UMLS_CUI:C1335751 Inverted papilloma of the kidney Pelvis disease_ontology DOID:6118 renal pelvis inverted papilloma DOID:6118 NCI:C4528 UMLS_CUI:C1514844 disease_ontology DOID:6119 renal pelvis urothelial papilloma DOID:6119 An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. ICD10CM:D84.9 ICD9CM:279.3 KEGG:05340 MESH:D007153 MIM:242850 MIM:PS300755 NCI:C39725 SNOMEDCT_US_2023_03_01:191005003 UMLS_CUI:C0021051 hypoimmunity immune deficiency disorder immunodeficiency syndrome disease_ontology DOID:612 Xref MGI. primary immunodeficiency disease DOID:612 An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. url:http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases An anal carcinoma that represents a group of cancers that are frequently diagnosed in people with HIV/AIDS. disease_ontology DOID:6122 obsolete AIDS-related anal cancer true DOID:6122 An anal carcinoma that represents a group of cancers that are frequently diagnosed in people with HIV/AIDS. url:http://cancer.about.com/od/cancerlistaz/a/AIDS_related.htm An anal canal cancer that derives_from epithelial cells. MESH:C563020 MIM:105580 NCI:C7489 SNOMEDCT_US_2023_03_01:285310000 UMLS_CUI:C0563211 anal canal and Perianal gland carcinoma disease_ontology DOID:6126 OMIM mapping confirmed by DO. [SN]. anal canal carcinoma DOID:6126 An anal canal cancer that derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells. GARD:6514 ICDO:9381/3 MESH:D018302 NCI:C4318 SNOMEDCT_US_2023_03_01:26138003 UMLS_CUI:C0334576 Astrocytosis cerebri disease_ontology DOID:6128 gliomatosis cerebri DOID:6128 A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells. url:https://en.wikipedia.org/wiki/Gliomatosis_cerebri url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5545748/ disease_ontology DOID:613 obsolete T lymphocyte deficiency true DOID:613 A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness. DOID:13503 DOID:13504 DOID:13707 DOID:13728 DOID:13729 DOID:5049 DOID:6130 DOID:6131 DOID:9982 DOID:9983 ICD10CM:J20 ICD10CM:J40 ICD10CM:J42 ICD9CM:466.0 ICD9CM:490 ICD9CM:491 MESH:D001991 MESH:D029481 NCI:C26722 NCI:C26932 NCI:C2911 SNOMEDCT_US_2023_03_01:155512004 SNOMEDCT_US_2023_03_01:155566007 SNOMEDCT_US_2023_03_01:32398004 UMLS_CUI:C0006277 UMLS_CUI:C0008677 UMLS_CUI:C0149514 CI - Chest infection Chest infection acute Bronchitis chest cold chronic bronchitis recurrent wheezy bronchitis disease_ontology acute bronchitis and bronchiolitis DOID:6132 bronchitis DOID:6132 A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness. url:http://www.nhlbi.nih.gov/health/dci/Diseases/brnchi/brnchi_whatis.html url:http://www.nlm.nih.gov/medlineplus/bronchitis.html url:https://www.merriam-webster.com/dictionary/bronchitis#medicalDictionary A uterus leiomyosarcoma characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm. NCI:C40174 UMLS_CUI:C1519851 disease_ontology DOID:6139 uterine corpus epithelioid leiomyosarcoma DOID:6139 A uterus leiomyosarcoma characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339182/ A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood. ICD10CM:D72.810 ICD9CM:288.51 MESH:D008231 SNOMEDCT_US_2023_03_01:48813009 UMLS_CUI:C0024312 Lymphocytopenia disease_ontology DOID:614 lymphopenia DOID:614 A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood. url:http://en.wikipedia.org/wiki/Lymphopenia An in situ carcinoma that is located_in the nasal cavity. ICD10CM:D02.3 SNOMEDCT_US_2023_03_01:92663007 UMLS_CUI:C0347095 carcinoma in situ of nasal cavities carcinoma in situ of nasal cavity stage 0 carcinoma of the nasal cavity disease_ontology DOID:6148 nasal cavity carcinoma in situ DOID:6148 An in situ carcinoma that is located_in the nasal cavity. url:http://www.cancerresearchuk.org/about-cancer/nasal-sinus-cancer/stages-grades/nasal-cavity-number-stages A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection. ICD10CM:D72.819 ICD9CM:288.50 MESH:D007970 SNOMEDCT_US_2023_03_01:142917003 UMLS_CUI:C0023530 Leucopenia disease_ontology DOID:615 leukopenia MESH:D007970 DOID:615 A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection. url:http://en.wikipedia.org/wiki/Leukopenia A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Deltaretrovirus, which is transmitted_by congenital method, and transmitted_by sexual contact. disease_ontology DOID:616 obsolete Deltaretrovirus infectious disease true DOID:616 A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Deltaretrovirus, which is transmitted_by congenital method, and transmitted_by sexual contact. url:http://www.expasy.org/viralzone/all_by_species/91.html A choriocarcinoma of the testis that is present during childhood. NCI:C6544 UMLS_CUI:C1333006 pediatric testicular Choriocarcinoma disease_ontology DOID:6160 childhood choriocarcinoma of the testis DOID:6160 A choriocarcinoma of the testis that is present during childhood. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204242/ NCI:C6542 UMLS_CUI:C1333009 childhood testicular mixed germ cell tumour paediatric testicular mixed germ cell tumour pediatric testicular mixed germ cell tumor disease_ontology DOID:6161 childhood testicular mixed germ cell tumor DOID:6161 An embryonal testis carcinoma that occurs in children. NCI:C6545 UMLS_CUI:C1333007 pediatric testicular Embryonal carcinoma disease_ontology childhood embryonal carcinoma of the testis DOID:6162 childhood embryonal testis carcinoma DOID:6162 An embryonal testis carcinoma that occurs in children. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma NCI:C9222 SNOMEDCT_US_2023_03_01:715561008 UMLS_CUI:C0879257 Hereditary Papillary renal carcinoma disease_ontology DOID:6163 familial renal papillary carcinoma DOID:6163 NCI:C39900 UMLS_CUI:C1514522 disease_ontology DOID:6166 prostatic urethra urothelial carcinoma DOID:6166 NCI:C39870 UMLS_CUI:C1514523 disease_ontology DOID:6167 prostatic urethral cancer DOID:6167 A ssRNA-RT virus infectious disease that results_in infection in animals and humans, has_material_basis_in Retroviridae viruses. Retroviridae disease disease due to Retroviridae (disorder) disease_ontology DOID:617 obsolete Retroviridae infectious disease true DOID:617 A ssRNA-RT virus infectious disease that results_in infection in animals and humans, has_material_basis_in Retroviridae viruses. url:http://en.wikipedia.org/wiki/Retroviridae A malignant ovarian surface epithelial-stromal neoplasm that is a mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. GARD:7296 NCI:C9192 SNOMEDCT_US_2023_03_01:702368000 UMLS_CUI:C0392998 Ovarian MMMT ovarian malignant mesodermal (mullerian) mixed tumor ovarian malignant mixed Mullerian tumor disease_ontology DOID:6170 ovarian carcinosarcoma DOID:6170 A malignant ovarian surface epithelial-stromal neoplasm that is a mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938474/ A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma. GARD:12335 NCI:C42700 SNOMEDCT_US_2023_03_01:702369008 UMLS_CUI:C0280630 mixed mullerian sarcoma of uterus disease_ontology DOID:6171 uterine carcinosarcoma DOID:6171 A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma. url:http://cancergenome.nih.gov/cancersselected/UterineCarcinosarcoma url:http://en.wikipedia.org/wiki/Carcinosarcoma disease_ontology DOID:6174 obsolete sporadic conventional renal cell carcinoma true DOID:6174 A neurilemmoma located_in the mediastinum. DOID:7922 NCI:C6643 UMLS_CUI:C1334679 Schwannoma of mediastinum disease_ontology DOID:6175 mediastinal neurilemmoma DOID:6175 A neurilemmoma located_in the mediastinum. url:https://pubmed.ncbi.nlm.nih.gov/25992358 disease_ontology DOID:6178 obsolete metastatic ovarian small cell carcinoma with hypercalcemia true DOID:6178 An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. GARD:10411 NCI:C27390 disease_ontology DOID:6179 ovarian small cell carcinoma DOID:6179 An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3858994/ A Cytomegalovirus infectious disease that results_in inflammation located_in stomach lining, has_material_basis_in Human herpesvirus 5, has_symptom dyspepsia, and has_symptom nausea and vomiting. CMV Gastritis CMV-Related Gastritis disease_ontology DOID:6180 obsolete Cytomegalovirus gastritis true DOID:6180 A Cytomegalovirus infectious disease that results_in inflammation located_in stomach lining, has_material_basis_in Human herpesvirus 5, has_symptom dyspepsia, and has_symptom nausea and vomiting. url:http://www.merck.com/mmpe/sec02/ch013/ch013c.html?qt=gastritis&alt=sh disease_ontology DOID:6184 obsolete squamous cell carcinoma of unknown primary true DOID:6184 Duncan's syndrome disease_ontology DOID:619 obsolete lymphoproliferative disease true DOID:619 A sarcoma of the rectum that results_in lesions that are located_in the rectum. NCI:C5550 SNOMEDCT_US_2023_03_01:1156797006 UMLS_CUI:C1335681 Kaposi's sarcoma of rectum rectum Kaposi sarcoma disease_ontology DOID:6190 rectum Kaposi's sarcoma DOID:6190 A sarcoma of the rectum that results_in lesions that are located_in the rectum. url:http://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp NCI:C6497 UMLS_CUI:C1334180 Xanthosarcoma inflammatory MFH disease_ontology DOID:6192 malignant inflammatory fibrous histiocytoma DOID:6192 A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue. GARD:10181 ICDO:8804/3 MESH:D012509 NCI:C3714 SNOMEDCT_US_2023_03_01:782827000 UMLS_CUI:C0205944 epithelioid cell sarcoma disease_ontology DOID:6193 epithelioid sarcoma DOID:6193 A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue. url:https://en.wikipedia.org/wiki/Epithelioid_sarcoma url:https://www.mayoclinic.org/diseases-conditions/epithelioid-sarcoma/cdc-20392420 A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids. ICD10CM:H10 ICD9CM:372.30 MESH:D003231 NCI:C34504 SNOMEDCT_US_2023_03_01:193857008 UMLS_CUI:C0009763 disease_ontology Madras eye DOID:6195 conjunctivitis DOID:6195 A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids. url:http://en.wikipedia.org/wiki/Conjunctivitis An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body. DOID:10148 DOID:11891 DOID:13318 DOID:13519 DOID:13782 DOID:13783 DOID:13784 DOID:13785 DOID:6194 DOID:9760 GARD:5693 ICD10CM:M02.10 ICD10CM:M02.3 ICD9CM:099.3 ICD9CM:711.30 MESH:D016918 NCI:C34975 SNOMEDCT_US_2023_03_01:266212009 SNOMEDCT_US_2023_03_01:56528004 UMLS_CUI:C0035012 UMLS_CUI:C0152085 Fiessinger Leroy Reiter syndrome Post-bacterial arthropathy Reiter disease Reiter's disease postdysenteric arthropathy disease_ontology DOID:6196 reactive arthritis DOID:6196 An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body. url:http://en.wikipedia.org/wiki/Reactive_arthritis url:http://www.about-reactive-arthritis.com/ url:http://www.mayoclinic.com/health/reactive-arthritis/DS00486/DSECTION=causes url:http://www.nlm.nih.gov/medlineplus/ency/article/000440.htm NCI:C9425 UMLS_CUI:C1333158 disease_ontology DOID:6197 conventional malignant hemangiopericytoma DOID:6197 NCI:C6093 SNOMEDCT_US_2023_03_01:420835009 UMLS_CUI:C1333159 disease_ontology DOID:6198 corneal intraepithelial neoplasm DOID:6198 DOID:12757 ICD10CM:C69.1 ICD9CM:190.4 NCI:C3565 NCI:C4361 SNOMEDCT_US_2023_03_01:126997008 SNOMEDCT_US_2023_03_01:93766000 UMLS_CUI:C0153629 UMLS_CUI:C0339304 Corneal tumor malignant Corneal tumor malignant neoplasm of cornea malignant tumor of cornea neoplasm of cornea disease_ontology DOID:6199 cornea cancer DOID:6199 A heart valve disease that is located_in the aortic valve. DOID:56 ICD9CM:424.1 MESH:D000082862 NCI:C78650 SNOMEDCT_US_2023_03_01:8722008 UMLS_CUI:C1260873 disease_ontology DOID:62 Updating out dated UMLS CUI. aortic valve disease DOID:62 A heart valve disease that is located_in the aortic valve. url:https://www.mayoclinic.org/diseases-conditions/aortic-valve-disease/symptoms-causes/syc-20355117 MESH:D001796 UMLS_CUI:C0005830 blood protein disorder disease_ontology DOID:620 blood protein disease DOID:620 disease_ontology DOID:6200 obsolete recurrent malignant pericardial mesothelioma true DOID:6200 DOID:5883 DOID:7433 ICD10CM:C45.2 NCI:C7631 NCI:C7632 NCI:C8703 SNOMEDCT_US_2023_03_01:187885008 UMLS_CUI:C0346110 UMLS_CUI:C0854883 UMLS_CUI:C1335381 malignant Pericardial Mesothelioma malignant mesothelioma of pericardium disease_ontology DOID:6201 pericardial mesothelioma DOID:6201 relapsed malignant Mesothelioma disease_ontology DOID:6202 obsolete mesothelioma malignant recurrent true DOID:6202 NCI:C6846 SNOMEDCT_US_2023_03_01:722214003 UMLS_CUI:C1336751 PLAT disease_ontology DOID:6203 thyroid hyalinizing trabecular adenoma DOID:6203 PLAT ICDO:8330/0 MESH:D000236 SNOMEDCT_US_2023_03_01:55021007 UMLS_CUI:C0205647 Follicular adenoma of the Thyroid gland Thyroid follicular adenoma disease_ontology DOID:6204 follicular adenoma DOID:6204 NCI:C6615 UMLS_CUI:C1334675 Osteosarcoma of mediastinum disease_ontology DOID:6208 mediastinal osteogenic sarcoma DOID:6208 A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum. NCI:C6608 UMLS_CUI:C1334598 malignant hemangiopericytoma of mediastinum disease_ontology DOID:6209 malignant mediastinum hemangiopericytoma DOID:6209 A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum. url:https://pubmed.ncbi.nlm.nih.gov/7967247/ A viral infectious disease that results_in infection in primates and monkeys, has_material_basis_in Simian immunodeficiency virus, which is transmitted_by sexual contact, and transmitted_by ingestion of virus-infected milk. The infection The virus attacks the immune system leading to severe depletion of CD4+ T cells. SAIDS simian lymphoproliferative syndrome disease_ontology DOID:621 obsolete simian acquired immunodeficiency syndrome true DOID:621 A viral infectious disease that results_in infection in primates and monkeys, has_material_basis_in Simian immunodeficiency virus, which is transmitted_by sexual contact, and transmitted_by ingestion of virus-infected milk. The infection The virus attacks the immune system leading to severe depletion of CD4+ T cells. url:http://vir.sgmjournals.org/cgi/reprint/80/7/1557.pdf NCI:C39849 UMLS_CUI:C1511187 disease_ontology DOID:6210 bladder diffuse clear cell adenocarcinoma DOID:6210 An ovarian benign neoplasm that is biphasic and has_material_basis_in epithelial and mesenchymal elements. NCI:C4508 SNOMEDCT_US_2023_03_01:254855000 UMLS_CUI:C0346166 Ovarian mixed epithelial tumor Ovarian mixed epithelial tumour mixed epithelial tumour of ovary disease_ontology DOID:6211 mixed epithelial tumor of ovary DOID:6211 An ovarian benign neoplasm that is biphasic and has_material_basis_in epithelial and mesenchymal elements. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957347/ An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary. DOID:4116 NCI:C40051 NCI:C6257 UMLS_CUI:C1335159 UMLS_CUI:C1518231 endometrioid neoplasm of Ovary malignant ovarian endometrioid tumor ovarian endometrioid neoplasm disease_ontology DOID:6212 ovarian endometrial cancer DOID:6212 An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary. url:http://en.wikipedia.org/wiki/Endometrial_cancer Ovarian serous tumor (morphologic abnormality) Ovarian serous tumour serous tumor of Ovary disease_ontology DOID:6213 obsolete ovarian serous tumor true DOID:6213 An ovary epithelial cancer that is characterized by the presence of finger-like projections on histology. NCI:C8430 SNOMEDCT_US_2023_03_01:189683008 UMLS_CUI:C0476121 Ovarian papillary tumor Ovarian papillary tumour Papillary tumor of Ovary disease_ontology DOID:6214 ovarian papillary neoplasm DOID:6214 An ovary epithelial cancer that is characterized by the presence of finger-like projections on histology. url:https://acsjournals.onlinelibrary.wiley.com/doi/pdf/10.3322/canjclin.16.4.171 A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. DOID:4946 NCI:C4127 NCI:C9159 SNOMEDCT_US_2023_03_01:24505004 UMLS_CUI:C0279635 UMLS_CUI:C0334280 disease_ontology DOID:6217 gastric diffuse adenocarcinoma DOID:6217 A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9159 A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Lentivirus, which is transmitted_by sexual contact, transmitted_by breast feeding, and transmitted_by contact of infected blood with any open wound. Lentivirus disease disease_ontology DOID:622 obsolete Lentivirus infectious disease true DOID:622 A Retroviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Lentivirus, which is transmitted_by sexual contact, transmitted_by breast feeding, and transmitted_by contact of infected blood with any open wound. url:http://www.expasy.ch/viralzone/all_by_species/264.html A stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. MIM:175500 NCI:C7035 UMLS_CUI:C1333764 gastric Cronkhite Canada polyposis polyposis, skin pigmentation, alopecia, and fingernail changes disease_ontology DOID:6225 Cronkhite-Canada syndrome DOID:6225 A stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. url:https://pubmed.ncbi.nlm.nih.gov/21881972/ A cartilage disease that is characterized by damage to the cartilage that covers the ends of the bones. DOID:6226 DOID:9366 DOID:9871 DOID:9872 DOID:9873 DOID:9874 DOID:9875 ICD9CM:718.0 SNOMEDCT_US_2023_03_01:268062001 UMLS_CUI:C0158073 disease_ontology DOID:6227 articular cartilage disease DOID:6227 A cartilage disease that is characterized by damage to the cartilage that covers the ends of the bones. url:https://medlineplus.gov/cartilagedisorders.html NCI:C7695 SNOMEDCT_US_2023_03_01:15674004 UMLS_CUI:C1368918 primary serous papillary carcinoma of peritoneum disease_ontology DOID:6228 peritoneal serous papillary adenocarcinoma DOID:6228 A mature teratoma of the ovary that presents in childhood. NCI:C6548 UMLS_CUI:C1332991 pediatric Mature teratoma of Ovary disease_ontology DOID:6229 childhood mature teratoma of the ovary DOID:6229 A mature teratoma of the ovary that presents in childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/30165903 An ovarian germ cell teratoma that presents in childhood. NCI:C6554 UMLS_CUI:C1332992 pediatric teratoma of Ovary disease_ontology DOID:6230 childhood teratoma of the ovary DOID:6230 An ovarian germ cell teratoma that presents in childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/682093 An ovarian biphasic or triphasic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). NCI:C8112 UMLS_CUI:C1334637 disease_ontology DOID:6231 mature teratoma of the ovary DOID:6231 An ovarian biphasic or triphasic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). url:https://www.ncbi.nlm.nih.gov/pubmed/20212374 An ovarian germ cell teratoma that is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm. NCI:C39992 UMLS_CUI:C1518691 disease_ontology DOID:6232 ovarian biphasic or triphasic teratoma DOID:6232 An ovarian germ cell teratoma that is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm. url:https://www.tandfonline.com/doi/abs/10.1586/eog.10.80 DOID:6238 NCI:C27884 NCI:C39831 SNOMEDCT_US_2023_03_01:128625004 UMLS_CUI:C1266010 UMLS_CUI:C1518358 Papillary urothelial neoplasm of low malignant potential bladder PUNLMP bladder papillary neoplasm of low malignant potential disease_ontology DOID:6239 non-invasive bladder papillary urothelial neoplasm DOID:6239 ICD10CM:D80.7 NCI:C27071 SNOMEDCT_US_2023_03_01:88714009 UMLS_CUI:C0272238 disease_ontology DOID:624 transient hypogammaglobulinemia of infancy DOID:624 disease_ontology DOID:6240 obsolete transitional cell intraepithelial neoplasm true DOID:6240 NCI:C8960 UMLS_CUI:C0879606 disease_ontology DOID:6244 familial renal oncocytoma DOID:6244 GARD:8477 MESH:C537750 MIM:553000 NCI:C4526 SNOMEDCT_US_2023_03_01:254922006 UMLS_CUI:C0346255 Oncocytoma of kidney renal epithelial Oncocytic tumor disease_ontology DOID:6245 OMIM mapping confirmed by DO. [SN]. renal oncocytoma DOID:6245 Oncocytic tumor disease_ontology DOID:6246 OMIM mapping confirmed by DO. [LS]. obsolete oncocytic neoplasm true DOID:6246 NCI:C6812 UMLS_CUI:C1334680 Seminoma of mediastinum disease_ontology DOID:6249 mediastinum seminoma DOID:6249 NCI:C27319 UMLS_CUI:C0859960 disease_ontology DOID:625 transient hypogammaglobulinemia DOID:625 An Epstein-Barr virus infectious disease and is_a carcinoma that derives_from epithelial cells, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the epithelial cells that it infects. EBV Related carcinoma disease_ontology DOID:6250 obsolete Epstein-Barr virus related carcinoma true DOID:6250 An Epstein-Barr virus infectious disease and is_a carcinoma that derives_from epithelial cells, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the epithelial cells that it infects. url:http://www.diagnosticpathology.org/content/2/1/25 MESH:D049912 NCI:C7461 SNOMEDCT_US_2023_03_01:254957009 UMLS_CUI:C0346302 Growth Hormone Producing adenoma of the Pituitary Somatotroph adenoma growth hormone secreting adenoma of pituitary disease_ontology DOID:6255 OMIM mapping confirmed by DO. [SN]. growth hormone secreting pituitary adenoma DOID:6255 NCI:C5963 UMLS_CUI:C1334587 malignant Somatotropinoma disease_ontology DOID:6256 malignant growth hormone secreting neoplasm of pituitary DOID:6256 NCI:C3687 UMLS_CUI:C1518879 Papillary adenoma of the kidney disease_ontology DOID:6257 chromophil adenoma of the kidney DOID:6257 NCI:C39809 UMLS_CUI:C1519706 disease_ontology DOID:6258 type 1 papillary adenoma of the kidney DOID:6258 NCI:C39810 UMLS_CUI:C1519710 disease_ontology DOID:6259 type 2 papillary adenoma of the kidney DOID:6259 A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. ICD10CM:D84.1 MESH:D000081208 NCI:C4691 SNOMEDCT_US_2023_03_01:191014008 UMLS_CUI:C0272242 Complement deficiency disease disease_ontology DOID:626 complement deficiency DOID:626 A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. url:http://en.wikipedia.org/wiki/Complement_deficiency A dendritic cell sarcoma cancer that effects the follicular dendritic cells. ICD10CM:C96.4 ICDO:9758/3 MESH:D054740 NCI:C9281 SNOMEDCT_US_2023_03_01:128816008 UMLS_CUI:C1260325 Follicular Dendritic cell sarcoma Follicular dendritic cell tumour disease_ontology DOID:6262 follicular dendritic cell sarcoma DOID:6262 A dendritic cell sarcoma cancer that effects the follicular dendritic cells. url:http://en.wikipedia.org/wiki/Follicular_dendritic_cell_sarcoma A breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli. MESH:D058922 NCI:C4001 SNOMEDCT_US_2023_03_01:254840009 UMLS_CUI:C0278601 Inflammatory carcinoma of breast Mastitis carcinomatosa disease_ontology DOID:6263 inflammatory breast carcinoma DOID:6263 A breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2852616/ relapsed extraskeletal chondrosarcoma disease_ontology DOID:6268 obsolete recurrent extraskeletal chondrosarcoma true DOID:6268 A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems. GARD:7628 MESH:D016511 NCI:C3472 SNOMEDCT_US_2023_03_01:190994004 UMLS_CUI:C0085110 SCID combined T and B cell inborn immunodeficiency disease_ontology DOID:627 severe combined immunodeficiency DOID:627 A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems. url:http://www.merriam-webster.com/medlineplus/severe%20combined%20immunodeficiency url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=severecombinedimmunodeficiency url:http://www.scid.net/ url:https://www.genome.gov/Genetic-Disorders/Severe-Combined-Immunodeficiency SCID NCI:C6794 UMLS_CUI:C1333763 carcinoma of Cardia of stomach disease_ontology DOID:6270 gastric cardia carcinoma DOID:6270 NCI:C5247 UMLS_CUI:C1333762 adenocarcinoma of Cardia of stomach disease_ontology adenocarcinoma of gastric cardia DOID:6271 gastric cardia adenocarcinoma DOID:6271 disease_ontology DOID:6273 obsolete metastasis to pituitary gland true DOID:6273 NCI:C5965 UMLS_CUI:C1334627 malignant Thyrotropinoma disease_ontology DOID:6274 malignant thyroid stimulating hormone producing neoplasm of pituitary gland DOID:6274 NCI:C7915 SNOMEDCT_US_2023_03_01:254959007 UMLS_CUI:C0346303 TSH Secreting adenoma of the Pituitary TSH Secreting tumor of Pituitary TSH Secreting tumour of Pituitary TSH producing pituitary tumour Thyrotroph adenoma disease_ontology DOID:6275 TSH producing pituitary tumor DOID:6275 NCI:C5964 UMLS_CUI:C1334556 malignant Corticotropinoma of the Pituitary disease_ontology DOID:6276 malignant ACTH producing neoplasm of pituitary gland DOID:6276 Pituitary Corticotropin Secreting tumor disease_ontology DOID:6277 obsolete ACTH-producing pituitary tumor true DOID:6277 An ovarian mucinous neoplasm that is cancerous and that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. NCI:C40034 ovarian mucinous adenocarcinofibroma disease_ontology DOID:6278 ovarian mucinous malignant adenofibroma DOID:6278 An ovarian mucinous neoplasm that is cancerous and that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. url:https://www.ncbi.nlm.nih.gov/pubmed/23297622 A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity. ICD10CM:D81 ICD9CM:279.2 NCI:C27871 ORDO:101972 SNOMEDCT_US_2023_03_01:442459007 UMLS_CUI:C2711630 Congenital Combined Immunodeficiency disease_ontology DOID:628 Xref MGI. combined T cell and B cell immunodeficiency DOID:628 A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity. url:http://en.wikipedia.org/wiki/Combined_immunodeficiencies url:https://link.springer.com/chapter/10.1007/978-3-662-52909-6_2 A heart lipoma that is located_in the epicardium and derives_from fat cells. NCI:C6742 UMLS_CUI:C1333411 Lipoma of Epicardium disease_ontology DOID:6284 epicardium lipoma DOID:6284 A heart lipoma that is located_in the epicardium and derives_from fat cells. url:https://www.ncbi.nlm.nih.gov/pubmed/23438624 NCI:C6741 UMLS_CUI:C1332849 Lipoma of Heart disease_ontology DOID:6285 heart lipoma DOID:6285 NCI:C6286 UMLS_CUI:C0278594 pediatric astrocytoma of Cerebellum disease_ontology DOID:6286 childhood cerebellar astrocytic neoplasm DOID:6286 relapsed pediatric astrocytoma of Cerebellum disease_ontology DOID:6287 obsolete recurrent pediatric cerebellar astrocytoma true DOID:6287 relapsed tumor of pediatric brain disease_ontology DOID:6288 obsolete recurrent childhood brain tumor true DOID:6288 disease_ontology DOID:629 obsolete congenital disorder of natural immunity true DOID:629 NCI:C6220 UMLS_CUI:C1332907 Lipoma of the Cerebral Hemisphere disease_ontology DOID:6291 cerebral hemisphere lipoma DOID:6291 disease_ontology DOID:6292 obsolete intracranial lipoma true DOID:6292 A central nervous system benign neoplasm that derives_from fat cells. NCI:C5451 UMLS_CUI:C1332885 Lipoma of the CNS disease_ontology DOID:6293 central nervous system lipoma DOID:6293 A central nervous system benign neoplasm that derives_from fat cells. url:https://www.ncbi.nlm.nih.gov/pubmed/12597248 NCI:C5438 UMLS_CUI:C1333160 Lipoma of the Corpus Callosum disease_ontology DOID:6294 corpus callosum lipoma DOID:6294 A Simplexvirus infectious disease that results_in inflammation located_in esophagus, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom difficulty swallowing, has_symptom fever, has_symptom herpetic lesions and has_symptom painful swallowing. herpes simplex esophagitis disease_ontology DOID:6296 obsolete Herpes simplex virus esophagitis true DOID:6296 A Simplexvirus infectious disease that results_in inflammation located_in esophagus, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2. The infection has_symptom difficulty swallowing, has_symptom fever, has_symptom herpetic lesions and has_symptom painful swallowing. url:http://en.wikipedia.org/wiki/Herpes_simplex url:http://www.nlm.nih.gov/medlineplus/ency/article/000646.htm NCI:C27108 SNOMEDCT_US_2023_03_01:235603003 UMLS_CUI:C0341110 disease_ontology DOID:6297 viral esophagitis DOID:6297 A disease that has_material_basis_in genetic variations in the human genome. MESH:D030342 NCI:C3101 SNOMEDCT_US_2023_03_01:32895009 UMLS_CUI:C0019247 disease_ontology DOID:630 genetic disease DOID:630 A disease that has_material_basis_in genetic variations in the human genome. url:http://ghr.nlm.nih.gov/ disease_ontology basal cell carcinoma of the prostate DOID:6301 obsolete prostate basal cell carcinoma true DOID:6301 NCI:C27804 UMLS_CUI:C1333375 disease_ontology DOID:6307 ectopic thymus DOID:6307 metastatic Urothelial carcinoma of the renal Pelvis and Ureter disease_ontology DOID:6308 obsolete metastatic transitional cell cancer of the renal pelvis and ureter true DOID:6308 A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression. ICD10CM:M79.7 MESH:D005356 NCI:C87497 SNOMEDCT_US_2023_03_01:1304004 UMLS_CUI:C0016053 disease_ontology DOID:631 fibromyalgia DOID:631 A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression. url:https://pubmed.ncbi.nlm.nih.gov/30486733/ url:https://pubmed.ncbi.nlm.nih.gov/32120395/ url:https://pubmed.ncbi.nlm.nih.gov/33024295/ url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7660651/ A chordoma of skull base that is located in the clivus. NCI:C5412 SNOMEDCT_US_2023_03_01:446939001 UMLS_CUI:C1333071 Chordoma of Clivus disease_ontology DOID:6312 clivus chordoma DOID:6312 A chordoma of skull base that is located in the clivus. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1656331/ A chondroid chordoma and chordoma of the clivus that is located_in the clivus. NCI:C5426 UMLS_CUI:C1333072 Chondroid Chordoma of the Clivus disease_ontology DOID:6313 clivus chondroid chordoma DOID:6313 A chondroid chordoma and chordoma of the clivus that is located_in the clivus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263615/ A mature teratoma of the ovary that resembles a malformed human fetus with the caudal portion being more developed. NCI:C39996 UMLS_CUI:C1518715 disease_ontology DOID:6314 ovarian fetiform teratoma DOID:6314 A mature teratoma of the ovary that resembles a malformed human fetus with the caudal portion being more developed. url:https://www.ncbi.nlm.nih.gov/pubmed/28446797 A mature teratoma of the ovary that is predominantly solid with interspersed cysts. NCI:C7285 UMLS_CUI:C1335181 disease_ontology DOID:6315 ovarian solid teratoma DOID:6315 A mature teratoma of the ovary that is predominantly solid with interspersed cysts. url:https://pubs.rsna.org/doi/full/10.1148/radiographics.21.2.g01mr09475 url:https://www.ncbi.nlm.nih.gov/pubmed/27636886 A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue. NCI:C7719 UMLS_CUI:C0238016 Bartholin gland adenocarcinoma adenocarcinoma of the Bartholin's gland disease_ontology adenocarcinoma of bartholin's gland DOID:6316 Bartholin's gland adenocarcinoma DOID:6316 A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue. url:https://en.wikipedia.org/wiki/Adenocarcinoma url:https://www.ncbi.nlm.nih.gov/pubmed/7272963 An adamantinoma of long bone that is located_in the tibia. NCI:C8461 SNOMEDCT_US_2023_03_01:210233007 UMLS_CUI:C1273017 Tibial adamantinoma morphology disease_ontology DOID:6322 tibial adamantinoma DOID:6322 An adamantinoma of long bone that is located_in the tibia. url:https://www.ncbi.nlm.nih.gov/pubmed/30210255 disease_ontology DOID:6327 obsolete ovarian dermoid cyst with adenocarcinoma true DOID:6327 disease_ontology DOID:6328 obsolete ovarian dermoid cyst with secondary carcinoma true DOID:6328 disease_ontology DOID:6329 obsolete ovarian dermoid cyst with secondary tumor true DOID:6329 A myopathy characterized by muscle inflammation. ICD10CM:M60 MESH:D009220 MIM:160750 NCI:C27578 SNOMEDCT_US_2023_03_01:26889001 UMLS_CUI:C0027121 Inflammatory disorder of muscle disease_ontology DOID:633 OMIM mapping confirmed by DO. [SN]. myositis DOID:633 A myopathy characterized by muscle inflammation. url:http://www.nlm.nih.gov/medlineplus/myositis.html url:https://en.wikipedia.org/wiki/Myositis A malignant ovarian germ cell neoplasm that is a teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies. NCI:C8111 SNOMEDCT_US_2023_03_01:254871000 UMLS_CUI:C0346182 malignant teratoma of Ovary disease_ontology DOID:6331 immature teratoma of ovary DOID:6331 A malignant ovarian germ cell neoplasm that is a teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies. url:https://www.ncbi.nlm.nih.gov/pubmed/26142911 NCI:C7946 UMLS_CUI:C0279547 disease_ontology DOID:6332 adult malignant hemangiopericytoma DOID:6332 NCI:C9183 UMLS_CUI:C1334558 adult malignant intracranial hemangiopericytoma disease_ontology DOID:6333 adult intracranial malignant hemangiopericytoma DOID:6333 NCI:C7538 UMLS_CUI:C1332308 disease_ontology DOID:6334 anterior optic tract meningioma DOID:6334 MESH:C000608854 NCI:C5304 UMLS_CUI:C1332551 Bilateral meningioma of the optic nerve disease_ontology DOID:6335 bilateral meningioma of optic nerve DOID:6335 NCI:C5300 SNOMEDCT_US_2023_03_01:126948004 UMLS_CUI:C1263882 meningioma of the Cerebellar Pontine Angle disease_ontology DOID:6337 cerebellopontine angle meningioma DOID:6337 disease_ontology DOID:6338 obsolete testicular tumor of the thecoma fibroma group true DOID:6338 A vulva adenocarcinoma that has_material_basis_in eccrine glands. NCI:C40305 disease_ontology DOID:6339 vulvar eccrine adenocarcinoma DOID:6339 A vulva adenocarcinoma that has_material_basis_in eccrine glands. url:https://www.ncbi.nlm.nih.gov/pubmed/27832810 NCI:C6910 SNOMEDCT_US_2023_03_01:19897006 UMLS_CUI:C1321709 melanocytic psammomatous MPNST disease_ontology DOID:6344 melanotic psammomatous malignant peripheral nerve sheath tumor DOID:6344 NCI:C4748 SNOMEDCT_US_2023_03_01:404039004 UMLS_CUI:C0474847 Melanotic malignant nerve sheath tumor Melanotic malignant peripheral nerve sheath tumor Melanotic malignant peripheral nerve sheath tumour melanocytic MPNST disease_ontology DOID:6345 malignant melanocytic neoplasm of the peripheral nerve sheath DOID:6345 A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. EFO:0000765 ICD10CM:B20 MESH:D000163 NCI:C2851 SNOMEDCT_US_2023_03_01:62479008 UMLS_CUI:C0001175 AIDS acquired Immune deficiency disease_ontology acquired immune deficiency syndrome DOID:635 acquired immunodeficiency syndrome MESH:D000163 DOID:635 A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. url:http://en.wikipedia.org/wiki/AIDS url:https://www.merriam-webster.com/dictionary/AIDS AIDS A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes. ICDO:9823/3 NCI:C27911 SNOMEDCT_US_2023_03_01:399607007 UMLS_CUI:C1302547 B-cell lymphocytic leukemia/small lymphocytic lymphoma CLL/SLL disease_ontology DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma DOID:6354 A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes. url:http://www.cancer.gov/dictionary?CdrID=641291 url:https://lymphoma.org/aboutlymphoma/cll/ CLL/SLL A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria. GARD:8749 ICD10CM:G37.2 MESH:D017590 NCI:C84623 SNOMEDCT_US_2023_03_01:6807001 UMLS_CUI:C0206083 osmotic demyelination syndrome disease_ontology DOID:636 central pontine myelinolysis DOID:636 A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria. url:https://en.wikipedia.org/wiki/Central_pontine_myelinolysis url:https://pubmed.ncbi.nlm.nih.gov/25220878/ disease_ontology DOID:6361 obsolete renal cell carcinoma with constitutional chromosome 3 translocations true DOID:6361 A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. DOID:12437 ICD10CM:G43 ICD9CM:346 MESH:D008881 MIM:157300 NCI:C89715 SNOMEDCT_US_2023_03_01:155046006 SNOMEDCT_US_2023_03_01:193036004 UMLS_CUI:C0042331 UMLS_CUI:C0149931 migraine disorder migraine variant migraine with or without aura disease_ontology DOID:6364 Xref MGI. OMIM mapping confirmed by DO. [SN]. migraine DOID:6364 A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. url:http://en.wikipedia.org/wiki/Migraine url:http://www.mayoclinic.com/health/migraine-headache/DS00120 A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes. GARD:9570 acral lentiginous melanoma, malignant malignant acral lentiginous melanoma disease_ontology DOID:6367 acral lentiginous melanoma DOID:6367 A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes. url:http://en.wikipedia.org/wiki/Acral_lentiginous_melanoma url:http://en.wikipedia.org/wiki/Lentigo url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1352575/ Metabolic encephalopathy Metabolic encephalopathy (disorder) disease_ontology DOID:637 obsolete metabolic brain disease true DOID:637 NCI:C5833 UMLS_CUI:C1333974 Osteosarcoma of Liver disease_ontology DOID:6370 hepatic osteogenic sarcoma DOID:6370 ICD10CM:D73.1 ICD9CM:289.4 MESH:D006971 NCI:C34714 SNOMEDCT_US_2023_03_01:154839008 UMLS_CUI:C0020532 hypersplenia disease_ontology DOID:6376 hypersplenism DOID:6376 A central nervous system melanocytic neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. ICDO:8728/0 NCI:C6890 ORDO:252031 SNOMEDCT_US_2023_03_01:128729004 UMLS_CUI:C1266112 Diffuse Melanosis Diffuse melanocytosis Meningeal melanocytosis disease_ontology DOID:6379 diffuse meningeal melanocytosis DOID:6379 A central nervous system melanocytic neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. url:https://radiopaedia.org/articles/meningeal-melanocytosis?lang=us disease_ontology DOID:638 obsolete demyelinating disease of central nervous system true DOID:638 NCI:C5281 UMLS_CUI:C1332302 meningioma of the Anterior Foramen Magnum disease_ontology DOID:6381 anterior foramen magnum meningioma DOID:6381 relapsed pediatric glioma of Brainstem disease_ontology DOID:6382 obsolete recurrent childhood glioma of brain stem true DOID:6382 GARD:9306 NCI:C9042 UMLS_CUI:C0278600 pediatric glioma of the Brainstem disease_ontology DOID:6383 childhood brain stem glioma DOID:6383 disease_ontology DOID:6384 obsolete recurrent childhood central nervous system tumor true DOID:6384 disease_ontology DOID:6385 obsolete recurrent childhood brainstem astrocytoma true DOID:6385 NCI:C6216 UMLS_CUI:C1332950 disease_ontology DOID:6386 childhood brainstem astrocytoma DOID:6386 An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. GARD:8639 MESH:D004673 NCI:C34578 SNOMEDCT_US_2023_03_01:83942000 UMLS_CUI:C0014059 ADEM acute disseminated encephalitis disease_ontology DOID:639 acute disseminated encephalomyelitis DOID:639 An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. url:http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis url:http://www.ninds.nih.gov/disorders/acute_encephalomyelitis/acute_encephalomyelitis.htm ADEM disease_ontology DOID:64 obsolete epithelial tissue disease true DOID:64 MESH:D004679 NCI:C34580 SNOMEDCT_US_2023_03_01:154991009 UMLS_CUI:C0014070 Encephalitis &/or myelitis disease_ontology DOID:640 encephalomyelitis MESH:D004679 DOID:640 ICDO:8325/0 NCI:C27253 SNOMEDCT_US_2023_03_01:128670007 UMLS_CUI:C1266045 disease_ontology DOID:6404 metanephric adenoma DOID:6404 An ovarian cystadenoma that is characterized by the presence of finger-like projections. NCI:C7278 UMLS_CUI:C1335175 disease_ontology DOID:6405 ovarian papillary cystadenoma DOID:6405 An ovarian cystadenoma that is characterized by the presence of finger-like projections. url:https://www.sciencedirect.com/science/article/pii/S0002961041905159 GARD:1908 ICD10CM:Q20.1 ICD9CM:745.11 MESH:D004310 MIM:217095 NCI:C98916 ORDO:3426 SNOMEDCT_US_2023_03_01:7484005 UMLS_CUI:C0013069 Dextrotransposition of aorta Double outlet right ventricle with subpulmonary ventricular septal defect Taussig-Bing syndrome or defect disease_ontology DOID:6406 OMIM mapping confirmed by DO. [SN]. double outlet right ventricle DOID:6406 An ovarian papillary neoplasm that is an exophytic growth with bland, serous-type epitheliumon the surface of the ovary. NCI:C7279 UMLS_CUI:C1335183 disease_ontology DOID:6407 ovarian surface papilloma DOID:6407 An ovarian papillary neoplasm that is an exophytic growth with bland, serous-type epitheliumon the surface of the ovary. url:https://www.ncbi.nlm.nih.gov/pubmed/439088 An ovarian carcinoma that has_material_basis_in abnormally proliferating cells and derives_from epithelial cells. NCI:C6256 UMLS_CUI:C1335178 serous Surface Papillary carcinoma of Ovary disease_ontology DOID:6408 ovary papillary carcinoma DOID:6408 An ovarian carcinoma that has_material_basis_in abnormally proliferating cells and derives_from epithelial cells. url:https://acsjournals.onlinelibrary.wiley.com/doi/pdf/10.3322/canjclin.16.4.171 url:https://www.ncbi.nlm.nih.gov/pubmed/7185762 disease_ontology DOID:641 obsolete CNS demyelinating autoimmune disease true DOID:641 GARD:2245 ICD10CM:Q21.3 ICD9CM:745.2 MESH:D013771 MIM:187500 NCI:C84505 SNOMEDCT_US_2023_03_01:156913009 UMLS_CUI:C0039685 Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle disease_ontology DOID:6419 OMIM mapping confirmed by DO. [LS]. tetralogy of Fallot DOID:6419 disease_ontology DOID:642 obsolete demyelinating encephalopathy true DOID:642 GARD:4596 MESH:D011666 MIM:265500 SNOMEDCT_US_2023_03_01:56786000 UMLS_CUI:C0034089 disease_ontology DOID:6420 pulmonary valve stenosis DOID:6420 NCI:C27404 UMLS_CUI:C1332955 disease_ontology DOID:6423 childhood central nervous system mature teratoma DOID:6423 pediatric teratoma of central nervous system disease_ontology DOID:6424 obsolete pediatric CNS teratoma true DOID:6424 NCI:C6078 UMLS_CUI:C0920196 carcinoma of the eyelid disease_ontology DOID:6425 eyelid carcinoma DOID:6425 A cervix carcinoma that has_material_basis_in epithelium and is characterized by the presence of small, well differentiated, rounded nests of basaloid cells. NCI:C40213 SNOMEDCT_US_2023_03_01:763063001 UMLS_CUI:C1516403 disease_ontology DOID:6428 cervical adenoid basal carcinoma DOID:6428 A cervix carcinoma that has_material_basis_in epithelium and is characterized by the presence of small, well differentiated, rounded nests of basaloid cells. url:https://www.ncbi.nlm.nih.gov/pubmed/10872669 url:https://www.ncbi.nlm.nih.gov/pubmed/25207054 A viral infectious disease that involves reactivation of JC polyomavirus (Betapolyomavirus secuhominis) in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma. GARD:7468 ICD10CM:A81.2 ICD9CM:046.3 MESH:D007968 NCI:C26815 SNOMEDCT_US_2023_03_01:22255007 UMLS_CUI:C0023524 disease_ontology PML DOID:643 progressive multifocal leukoencephalopathy DOID:643 A viral infectious disease that involves reactivation of JC polyomavirus (Betapolyomavirus secuhominis) in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma. url:http://www.merck.com/mmpe/sec16/ch217/ch217f.html url:http://www.merriam-webster.com/medical/progressive%20multifocal%20leukoencephalopathy url:https://www.ninds.nih.gov/health-information/disorders/progressive-multifocal-leukoencephalopathy PML A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. ICD10CM:I27.20 MESH:D006976 NCI:C3120 SNOMEDCT_US_2023_03_01:155328008 UMLS_CUI:C0020542 disease_ontology DOID:6432 pulmonary hypertension DOID:6432 A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. url:https://en.wikipedia.org/wiki/Pulmonary_hypertension url:https://www.ncbi.nlm.nih.gov/pubmed/19555858 NCI:C4561 SNOMEDCT_US_2023_03_01:255021005 UMLS_CUI:C0346388 malignant melanoma of choroid melanoma of the Choroid disease_ontology DOID:6438 malignant choroid melanoma DOID:6438 Leukoencephalopathy (disorder) disease_ontology DOID:644 obsolete leukoencephalopathy true DOID:644 NCI:C40060 UMLS_CUI:C1518711 disease_ontology DOID:6445 ovarian endometrioid malignant adenofibroma DOID:6445 ICDO:8420/3 NCI:C4176 SNOMEDCT_US_2023_03_01:58069009 UMLS_CUI:C0334353 disease_ontology DOID:6446 ceruminous adenocarcinoma DOID:6446 disease_ontology DOID:6447 obsolete ceruminous tumor true DOID:6447 A vulva adenocarcinoma that has_material_basis_in apocrine glands. NCI:C40308 disease_ontology DOID:6448 vulvar apocrine adenocarcinoma DOID:6448 A vulva adenocarcinoma that has_material_basis_in apocrine glands. url:https://www.ncbi.nlm.nih.gov/pubmed/24179652 NCI:C5465 UMLS_CUI:C1332879 Fibrosarcoma of the CNS disease_ontology DOID:6451 central nervous system fibrosarcoma DOID:6451 A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. DOID:3471 GARD:6202 ICDO:9493/0 MESH:D006223 MIM:PS158350 NCI:C3076 NCI:C8419 ORDO:201 SNOMEDCT_US_2023_03_01:58037000 SNOMEDCT_US_2023_03_01:67944007 UMLS_CUI:C0018553 UMLS_CUI:C0391826 Cowden disease Lhermitte-Duclos disease dysplastic Gangliocytoma of Cerebellum disease_ontology multiple hamartoma syndrome DOID:6457 Xref MGI. OMIM mapping confirmed by DO. [SN]. Cowden syndrome DOID:6457 A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. url:http://en.wikipedia.org/wiki/Cowden_syndrome url:http://ghr.nlm.nih.gov/condition/cowden-syndrome A cerebellum cancer that is characterized by consistent neuronal, variable astrocytic and focal lipomatous differentiation. GARD:10642 ICDO:9506/1 NCI:C6905 SNOMEDCT_US_2023_03_01:734134003 UMLS_CUI:C1370507 Lipomatous Medulloblastoma disease_ontology DOID:6458 cerebellar liponeurocytoma DOID:6458 A cerebellum cancer that is characterized by consistent neuronal, variable astrocytic and focal lipomatous differentiation. url:https://pubmed.ncbi.nlm.nih.gov/33964714/ A rectal benign neoplasm that has_material_basis_in fat tissue. NCI:C5551 UMLS_CUI:C1335684 lipoma of the rectum disease_ontology DOID:6459 rectal lipoma DOID:6459 A rectal benign neoplasm that has_material_basis_in fat tissue. url:https://pubmed.ncbi.nlm.nih.gov/22084744/ An encephalitis that involves inflammation of the brain caused by viral infection. DOID:10248 DOID:10249 DOID:10839 MESH:D004671 NCI:C34576 SNOMEDCT_US_2023_03_01:68197003 UMLS_CUI:C0014055 epidemic encephalitis disease_ontology DOID:646 viral encephalitis DOID:646 An encephalitis that involves inflammation of the brain caused by viral infection. url:http://www.ncbi.nlm.nih.gov/sites/entrez/14978145 An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine. NCI:C5678 SNOMEDCT_US_2023_03_01:1196824005 UMLS_CUI:C1333114 Lipoma of large Intestine disease_ontology DOID:6460 large intestine lipoma DOID:6460 An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine. url:https://www.ncbi.nlm.nih.gov/pubmed/24950559 disease_ontology DOID:6467 obsolete bone recurrent Ewing's sarcoma true DOID:6467 A cystadenofibroma that is characterized by the presence of mucin. NCI:C8979 SNOMEDCT_US_2023_03_01:10705005 UMLS_CUI:C1377844 disease_ontology DOID:6468 mucinous cystadenofibroma DOID:6468 A cystadenofibroma that is characterized by the presence of mucin. url:https://www.ncbi.nlm.nih.gov/pubmed/23297622 An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. NCI:C40040 UMLS_CUI:C1518723 disease_ontology DOID:6469 ovarian mucinous adenofibroma DOID:6469 An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. url:https://www.ncbi.nlm.nih.gov/pubmed/1996729 A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer. disease_ontology DOID:647 obsolete Polyomavirus infectious disease true DOID:647 A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer. url:http://en.wikipedia.org/wiki/Polyomavirus NCI:C6539 UMLS_CUI:C1333008 pediatric testicular Teratocarcinoma disease_ontology DOID:6474 childhood teratocarcinoma of the testis DOID:6474 NCI:C39827 UMLS_CUI:C1512737 disease_ontology DOID:6476 clear cell variant infiltrating bladder urothelial carcinoma DOID:6476 NCI:C27885 UMLS_CUI:C1334281 Invasive bladder Urothelial carcinoma disease_ontology DOID:6477 invasive bladder transitional cell carcinoma DOID:6477 GARD:7617 ICD10CM:A81.81 ICD9CM:046.0 MESH:D007729 SNOMEDCT_US_2023_03_01:192684001 UMLS_CUI:C0022802 kuru encephalopathy disease_ontology DOID:648 kuru DOID:648 NCI:C6163 UMLS_CUI:C1332563 urinary bladder Signet Ring adenocarcinoma disease_ontology signet ring cell adenocarcinoma of bladder DOID:6481 bladder signet ring cell adenocarcinoma DOID:6481 NCI:C5649 UMLS_CUI:C1332137 acinar adenocarcinoma of the lung disease_ontology DOID:6482 lung acinar adenocarcinoma DOID:6482 A male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is located_in the rete testis. NCI:C39956 UMLS_CUI:C1514910 disease_ontology DOID:6483 rete testis adenoma DOID:6483 A male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is located_in the rete testis. url:https://www.ncbi.nlm.nih.gov/pubmed/10320920 NCI:C6635 UMLS_CUI:C1334668 melanocytic Schwannoma of mediastinum disease_ontology DOID:6484 mediastinal melanocytic neurilemmoma DOID:6484 disease_ontology DOID:6488 obsolete metastatic tumor to the iris true DOID:6488 NCI:C8970 SNOMEDCT_US_2023_03_01:91242000 UMLS_CUI:C1377843 periosteal osteosarcoma disease_ontology DOID:6489 periosteal osteogenic sarcoma DOID:6489 A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins. ICD10CM:A81.9 KEGG:05020 MESH:D017096 NCI:C128346 SNOMEDCT_US_2023_03_01:20484008 UMLS_CUI:C0162534 Prion disease pathway Prion protein disease Spongiform Encephalopathy prion induced disorder transmissible spongiform encephalopathy disease_ontology DOID:649 prion disease DOID:649 A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins. url:http://en.wikipedia.org/wiki/Prion url:http://www.cdc.gov/ncidod/dvrd/prions/ A breast hemangioma that is characterized by capillary-sized vessels. NCI:C5210 UMLS_CUI:C1332619 Capillary Angioma of breast disease_ontology DOID:6491 breast capillary hemangioma DOID:6491 A breast hemangioma that is characterized by capillary-sized vessels. url:http://www.pathologyoutlines.com/topic/breasthemangioma.html url:https://www.ncbi.nlm.nih.gov/pubmed/26687640 A breast hemangioma that is characterized by islands and cords on hyalinized and myxoid ground substance as well as intracytoplasmic vacuoles that contain typical erythrocytes and are characterized by fusiform or round nucleated cells. NCI:C5211 UMLS_CUI:C1332627 breast Histiocytoid hemangioma disease_ontology DOID:6492 breast epithelioid hemangioma DOID:6492 A breast hemangioma that is characterized by islands and cords on hyalinized and myxoid ground substance as well as intracytoplasmic vacuoles that contain typical erythrocytes and are characterized by fusiform or round nucleated cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351506/ NCI:C27377 UMLS_CUI:C1332984 pediatric myxoid chondrosarcoma disease_ontology DOID:6494 childhood myxoid chondrosarcoma DOID:6494 An adult sarcoma of soft tissue and myxoid chondrosarcoma that is composed_of multiple lobules of chondroblast-like cells, arranged in cords and strands, embedded in a myxoid stroma, and separated by fibrous septa. disease_ontology DOID:6495 obsolete adult myxoid chondrosarcoma true DOID:6495 An adult sarcoma of soft tissue and myxoid chondrosarcoma that is composed_of multiple lobules of chondroblast-like cells, arranged in cords and strands, embedded in a myxoid stroma, and separated by fibrous septa. url:https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/myxoid-chondrosarcoma An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix. disease_ontology DOID:6496 OMIM mapping confirmed by DO. [SN]. obsolete extraskeletal myxoid chondrosarcoma true DOID:6496 An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix. url:http://en.wikipedia.org/wiki/Chondrosarcoma url:http://en.wikipedia.org/wiki/Myxoid_chondrosarcoma url:http://en.wikipedia.org/wiki/Myxoid_tumor url:https://www.ncbi.nlm.nih.gov/pubmed/10564384 GARD:3108 ICD10CM:L82 ICD9CM:702.1 MESH:D017492 MIM:182000 NCI:C9006 SNOMEDCT_US_2023_03_01:201096007 UMLS_CUI:C0022603 disease_ontology DOID:6498 OMIM mapping confirmed by DO. [SN]. seborrheic keratosis DOID:6498 A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. MESH:D003240 NCI:C26729 SNOMEDCT_US_2023_03_01:201432001 UMLS_CUI:C0009782 connective tissue disorder disorder of connective tissue disease_ontology DOID:65 connective tissue disease DOID:65 A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. url:http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp NCI:C5146 UMLS_CUI:C1332900 Hemangioblastoma of Cerebellum disease_ontology DOID:6500 cerebellar angioblastoma DOID:6500 A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells. NCI:C5147 UMLS_CUI:C1332611 Hemangioblastoma of Brainstem disease_ontology DOID:6501 brain stem angioblastoma DOID:6501 A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells. url:https://en.wikipedia.org/wiki/Hemangioblastoma url:https://www.ncbi.nlm.nih.gov/pubmed/19787293 A benign vaginal carcinosarcoma that has_material_basis_in epithelial cells of the remnants of the vestibular gland and is located_in vagina. NCI:C40280 UMLS_CUI:C1511107 disease_ontology DOID:6505 vaginal spindle cell epithelioma DOID:6505 A benign vaginal carcinosarcoma that has_material_basis_in epithelial cells of the remnants of the vestibular gland and is located_in vagina. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782956/ Seminoma with high mitotic index testicular Seminoma with High Mitotic Index disease_ontology DOID:6506 obsolete anaplastic seminoma true DOID:6506 NCI:C6686 UMLS_CUI:C1335100 Occult squamous cell carcinoma of the lung disease_ontology occult squamous cell carcinoma of lung DOID:6510 lung occult squamous cell carcinoma DOID:6510 An ovarian endodermal sinus tumor that is characterized by a glandular pattern on histology. NCI:C39988 UMLS_CUI:C1518747 disease_ontology DOID:6511 glandular pattern ovarian yolk sac tumor DOID:6511 An ovarian endodermal sinus tumor that is characterized by a glandular pattern on histology. url:https://www.ncbi.nlm.nih.gov/pubmed/25395492 An ovarian endodermal sinus tumor that is characterized by a hepatoid pattern on histology, which involves large polyhedral cells with hyaline bodies but no bile. NCI:C39989 UMLS_CUI:C1518748 disease_ontology DOID:6512 hepatoid pattern ovarian yolk sac tumor DOID:6512 An ovarian endodermal sinus tumor that is characterized by a hepatoid pattern on histology, which involves large polyhedral cells with hyaline bodies but no bile. url:http://www.pathologyoutlines.com/topic/ovarytumoryolksac.html An ovarian endodermal sinus tumor that is characterized by a polyvesicular vitelline pattern, which involves vesicular structures with eccentric constrictions surrounded by a dense spindle cell stroma. NCI:C39987 UMLS_CUI:C1518749 disease_ontology DOID:6514 polyvesicular vitelline pattern ovarian yolk sac tumor DOID:6514 An ovarian endodermal sinus tumor that is characterized by a polyvesicular vitelline pattern, which involves vesicular structures with eccentric constrictions surrounded by a dense spindle cell stroma. url:http://www.pathologyoutlines.com/topic/ovarytumoryolksac.html NCI:C5289 UMLS_CUI:C1333073 meningioma of the Clivus disease_ontology DOID:6517 clivus meningioma DOID:6517 A Bartholin's gland benign neoplasm that has_material_basis_in gland and muscle components. NCI:C40300 UMLS_CUI:C1511049 Bartholin gland adenomyoma disease_ontology DOID:6518 Bartholin's gland adenomyoma DOID:6518 A Bartholin's gland benign neoplasm that has_material_basis_in gland and muscle components. url:https://www.ncbi.nlm.nih.gov/pubmed/9785128 Congenital malformation and deformation of the musculoskeletal system (disorder) Congenital malformations and deformations of the musculoskeletal system (disorder) Congenital musculoskeletal anomalies NOS Congenital musculoskeletal anomalies NOS (disorder) Congenital musculoskeletal deformities Congenital musculoskeletal deformity NOS (disorder) Skeletal anomaly-congen congenital musculoskeletal anomaly disease_ontology DOID:652 obsolete congenital musculoskeletal abnormality true DOID:652 NCI:C35781 UMLS_CUI:C1334782 disease_ontology DOID:6522 mixed cell uveal melanoma DOID:6522 NCI:C35783 UMLS_CUI:C1333051 disease_ontology DOID:6523 ciliary body mixed cell melanoma DOID:6523 NCI:C4558 SNOMEDCT_US_2023_03_01:255015006 UMLS_CUI:C0346379 malignant melanoma of ciliary body melanoma of the Ciliary body disease_ontology DOID:6524 malignant ciliary body melanoma DOID:6524 NCI:C35782 UMLS_CUI:C1333025 disease_ontology DOID:6525 choroid mixed cell melanoma DOID:6525 An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. ICD10CM:E79.8 ICD9CM:277.2 SNOMEDCT_US_2023_03_01:190917005 UMLS_CUI:C0029595 inborn errors of purine-pyrimidine metabolism disease_ontology DOID:653 purine-pyrimidine metabolic disorder DOID:653 An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. url:http://en.wikipedia.org/wiki/Inborn_errors_of_purine-pyrimidine_metabolism A thymoma type B that is characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. NCI:C6888 SNOMEDCT_US_2023_03_01:128713007 UMLS_CUI:C1266095 Polygonal cell Thymoma Thymoma, cortical cortical thymoma disease_ontology DOID:6530 thymoma type B2 DOID:6530 A thymoma type B that is characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9964105/ disease_ontology DOID:6532 obsolete monomorphic B-cell PTLD true DOID:6532 disease_ontology DOID:6533 obsolete monomorphic PTLD true DOID:6533 disease_ontology DOID:6535 obsolete plasma cell PTLD true DOID:6535 A mature B-cell neoplasm that is composed of plasma cells. EFO:0000200 MESH:D010265 SNOMEDCT_US_2023_03_01:71390001 UMLS_CUI:C1136084 Plasma cell dyscrasia Plasma cell tumour Plasmacytic tumor disease_ontology DOID:6536 plasma cell neoplasm DOID:6536 A mature B-cell neoplasm that is composed of plasma cells. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4665 A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. MESH:D044343 SNOMEDCT_US_2023_03_01:302872003 UMLS_CUI:C1257763 disease_ontology DOID:654 Updated outdated UMLS CUI. overnutrition DOID:654 A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. url:https://en.wikipedia.org/wiki/Overnutrition disease_ontology DOID:6540 obsolete transient organic mental disorder true DOID:6540 A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring. DOID:9906 ICD10CM:L70 ICD10CM:L70.2 ICD9CM:706.0 MESH:D000152 MIM:604324 SNOMEDCT_US_2023_03_01:11381005 SNOMEDCT_US_2023_03_01:201210008 UMLS_CUI:C0152249 UMLS_CUI:C0702166 Acne varioliformis acne vulgaris frontalis acne disease_ontology DOID:6543 acne DOID:6543 A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring. url:http://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance Atypical meningioma Atypical meningioma (morphologic abnormality) disease_ontology DOID:6544 obsolete atypical meningioma true DOID:6544 disease_ontology DOID:6545 obsolete adult atypical meningioma true DOID:6545 secondary Heart Lymphoma disease_ontology DOID:6546 obsolete secondary cardiac lymphoma true DOID:6546 NCI:C5368 UMLS_CUI:C1332850 Lymphoma of Heart disease_ontology DOID:6547 heart lymphoma DOID:6547 ICDO:9534/0 MESH:D008579 NCI:C4332 SNOMEDCT_US_2023_03_01:73918009 UMLS_CUI:C0334608 disease_ontology DOID:6548 angiomatous meningioma DOID:6548 disease_ontology DOID:6549 obsolete schistosoma hematobium-related bladder verrucous squamous cell carcinoma true DOID:6549 A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. MESH:D008661 NCI:C34816 SNOMEDCT_US_2023_03_01:86095007 UMLS_CUI:C0025521 Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder disease_ontology DOID:655 inherited metabolic disorder DOID:655 A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. url:http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism url:http://www.ncbi.nlm.nih.gov/mesh/68008659 NCI:C6764 UMLS_CUI:C1333788 small cell carcinoma of stomach disease_ontology DOID:6552 gastric small cell carcinoma DOID:6552 NCI:C5282 UMLS_CUI:C1335449 meningioma of the Posterior Foramen Magnum disease_ontology DOID:6553 posterior foramen magnum meningioma DOID:6553 An ovarian cancer that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. NCI:C40079 ovarian clear cell adenocarcinofibroma disease_ontology DOID:6554 ovarian clear cell malignant adenofibroma DOID:6554 An ovarian cancer that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. url:https://www.ncbi.nlm.nih.gov/pubmed/6692303 hamartoma of the Spinal Cord disease_ontology DOID:6556 obsolete hamartoma of Spinal Cord true DOID:6556 NCI:C6836 UMLS_CUI:C1333476 Schneiderian papilloma of the ethmoid sinus disease_ontology DOID:6559 ethmoid sinus Schneiderian papilloma DOID:6559 An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland. GARD:5745 adenoma of the Adrenal gland disease_ontology DOID:656 adrenal adenoma DOID:656 An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland. url:http://en.wikipedia.org/wiki/Adrenal_adenoma NCI:C6843 UMLS_CUI:C1333474 Inverted papilloma of the ethmoid sinus disease_ontology DOID:6562 ethmoid sinus inverted papilloma DOID:6562 disease_ontology DOID:6563 obsolete metastatic testicular cancer true DOID:6563 NCI:C5418 UMLS_CUI:C1335435 Schwannoma of Pleura disease_ontology DOID:6564 neurilemmoma of the pleura DOID:6564 DOID:6746 NCI:C9089 NCI:C9090 UMLS_CUI:C0278867 UMLS_CUI:C0278868 medium/large size posterior uveal melanoma small size posterior uveal melanoma disease_ontology DOID:6566 posterior uveal melanoma DOID:6566 A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels. NCI:C40175 UMLS_CUI:C1519861 disease_ontology DOID:6567 uterine corpus myxoid leiomyosarcoma DOID:6567 A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels. url:https://www.ncbi.nlm.nih.gov/pubmed/26866354 NCI:C40290 UMLS_CUI:C1519982 disease_ontology DOID:6569 micropapillomatosis labialis DOID:6569 A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. DOID:2655 ICDO:8140/0 MESH:D000236 NCI:C2855 NCI:C4196 SNOMEDCT_US_2023_03_01:443416007 SNOMEDCT_US_2023_03_01:79041005 UMLS_CUI:C0001430 UMLS_CUI:C0334389 acinar cell adenoma acinic cell adenoma adenomas disease_ontology DOID:657 adenoma MESH:D000236 DOID:657 A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. url:http://coloncancer.about.com/od/glossaries/g/Adenoma.htm url:http://en.wikipedia.org/wiki/Adenoma disease_ontology DOID:6571 non-invasive bladder urothelial carcinoma DOID:6571 relapsed tumor of adult brain disease_ontology DOID:6573 obsolete recurrent adult brain tumor true DOID:6573 Papillary mucinous cystadenoma, borderline malignancy (morphologic abnormality) Papillary mucinous neoplasm of Low malignant Potential disease_ontology DOID:6574 obsolete Borderline malignancy papillary mucinous cystadenoma true DOID:6574 NCI:C7534 UMLS_CUI:C1333014 pediatric visual pathway astrocytoma disease_ontology DOID:6575 childhood optic tract astrocytoma DOID:6575 MESH:D020339 NCI:C7535 UMLS_CUI:C0278653 glioma of the pediatric visual pathway disease_ontology DOID:6576 childhood optic nerve glioma DOID:6576 disease_ontology DOID:6577 obsolete ovarian dermoid cyst with sebaceous adenoma true DOID:6577 disease_ontology DOID:6578 obsolete ovarian dermoid cyst with secondary sebaceous tumor true DOID:6578 A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall. NCI:C6724 UMLS_CUI:C1334572 malignant bone tumor of the Chest Wall disease_ontology malignant bone neoplasm of chest wall DOID:6579 chest wall bone cancer DOID:6579 A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall. url:https://www.ncbi.nlm.nih.gov/pubmed/10451260 A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders. NCI:C5141 UMLS_CUI:C1332316 disease_ontology apocrine carcinoma of breast DOID:6581 breast apocrine carcinoma DOID:6581 A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders. url:https://www.ncbi.nlm.nih.gov/pubmed/23771415 A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria. ICDO:8290/3 NCI:C40366 UMLS_CUI:C1518574 oncocytic breast carcinoma disease_ontology DOID:6585 breast oncocytic carcinoma DOID:6585 A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria. url:https://www.ncbi.nlm.nih.gov/pubmed/21111455 A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma. ICDO:8211/3 NCI:C9135 UMLS_CUI:C1328544 Invasive tubular carcinoma of breast invasive tubular breast carcinoma tubular carcinoma of breast disease_ontology DOID:6587 breast tubular carcinoma DOID:6587 A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893342/ ICD10CM:M46 ICD9CM:720.8 SNOMEDCT_US_2023_03_01:202651004 UMLS_CUI:C0029644 disease_ontology DOID:6590 spondylitis MESH:D013166 DOID:6590 NCI:C39835 UMLS_CUI:C1511188 disease_ontology DOID:6594 bladder colonic type adenocarcinoma DOID:6594 NCI:C5473 UMLS_CUI:C1333791 tubular adenocarcinoma of stomach disease_ontology DOID:6595 gastric tubular adenocarcinoma DOID:6595 A muscular disease located in the muscle tissue. disease_ontology DOID:66 muscle tissue disease DOID:66 A muscular disease located in the muscle tissue. url:https://medlineplus.gov/muscledisorders.html DOID:3949 ICD10CM:C74.0 MESH:D000306 NCI:C2858 NCI:C9327 SNOMEDCT_US_2023_03_01:127022002 SNOMEDCT_US_2023_03_01:93664009 UMLS_CUI:C0001618 UMLS_CUI:C0346402 Adrenal cortical tumors malignant Adrenocortical tumor malignant neoplasm of adrenal cortex malignant tumour of adrenal cortex neoplasm of adrenal cortex disease_ontology DOID:660 adrenal cortex cancer DOID:660 relapsed malignant Mesothelioma of Peritoneum disease_ontology DOID:6602 obsolete recurrent malignant peritoneal mesothelioma true DOID:6602 ICD10CM:M48.3 ICD9CM:721.7 SNOMEDCT_US_2023_03_01:240218006 UMLS_CUI:C0152088 Kummell disease Kummell's spondylitis Traumatic spondylopathy disease_ontology DOID:6603 Kummell's disease DOID:6603 DOID:12870 DOID:12871 DOID:8595 Dorsal spondylosis without myelopathy Spondylogenic compression of cervical spinal cord Thoracic spondylosis without myelopathy Thoracic spondylosis without myelopathy (disorder) cervical spondylosis with myelopathy cervical spondylosis with myelopathy (disorder) cervical spondylosis without myelopathy cervical spondylosis without myelopathy (disorder) disease_ontology DOID:6604 obsolete spondylosis and allied disorder true DOID:6604 NCI:C27888 UMLS_CUI:C1333062 disease_ontology DOID:6605 classic variant of chromophobe renal cell carcinoma DOID:6605 NCI:C27889 UMLS_CUI:C1333405 disease_ontology DOID:6606 eosinophilic variant of chromophobe renal cell carcinoma DOID:6606 NCI:C6997 Hibernoma of nervous system disease_ontology DOID:6607 nervous system hibernoma DOID:6607 NCI:C5661 UMLS_CUI:C1333386 disease_ontology DOID:6608 endobronchial leiomyoma DOID:6608 Basaloid squamous cell carcinoma of head and neck disease_ontology DOID:6609 obsolete basaloid squamous cell carcinoma of the head and neck true DOID:6609 DOID:487 NCI:C5396 NCI:C6477 SNOMEDCT_US_2023_03_01:685021000119103 UMLS_CUI:C1332575 UMLS_CUI:C1332578 bone hemangioma hemangioma of bone osseous epithelioid hemangioma osseous hemangioma disease_ontology DOID:6610 bone epithelioid hemangioma DOID:6610 A combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system. DOID:611 GARD:9544 MESH:D018370 ORDO:2968 UMLS_CUI:C0242597 Congenital leukocyte adherence deficiency disease_ontology DOID:6612 leukocyte adhesion deficiency DOID:6612 A combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system. url:https://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/ url:https://www.ncbi.nlm.nih.gov/books/NBK539770/ A vaginal adenoma that is a polyp that resembles colorectal villous adenoma. NCI:C40259 UMLS_CUI:C1519936 disease_ontology DOID:6613 vaginal villous adenoma DOID:6613 A vaginal adenoma that is a polyp that resembles colorectal villous adenoma. url:https://www.ncbi.nlm.nih.gov/pubmed/18603704 disease_ontology adenocarcinoma of unknown primary DOID:6618 obsolete unknown primary adenocarcinoma true DOID:6618 A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3. GARD:73 MESH:D053307 MIM:308230 NCI:C158531 ORDO:101088 SNOMEDCT_US_2023_03_01:403835002 UMLS_CUI:C0398689 HIGM1 X-linked hyper-IgM immunodeficiency XHIM hyper-IgM immunodeficiency syndrome type 1 hyper-IgM syndrome 1 hyper-IgM syndrome type 1 immunodeficiency with hyper-IgM type 1 disease_ontology DOID:6620 X-linked hyper IgM syndrome GARD:73 MESH:D053307 MIM:308230 NCI:C158531 ORDO:101088 SNOMEDCT_US_2023_03_01:403835002 UMLS_CUI:C0398689 DOID:6620 A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3. url:https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome HIGM1 XHIM A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen. NCI:C5433 UMLS_CUI:C0877388 hemangioma of Cerebrum disease_ontology DOID:6621 cerebral angioma DOID:6621 A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen. url:https://en.wikipedia.org/wiki/Cavernous_hemangioma A cervical mucinous adenocarcinoma that is well differentiated, consisting of an endocervical glandular hyperplasia of lobular architecture resembling glands but with the characteristics of adenocarcinoma. NCI:C40206 UMLS_CUI:C1516423 disease_ontology DOID:6627 cervical adenoma malignum DOID:6627 A cervical mucinous adenocarcinoma that is well differentiated, consisting of an endocervical glandular hyperplasia of lobular architecture resembling glands but with the characteristics of adenocarcinoma. url:http://www.pathologyoutlines.com/topic/cervixadenomamalignum.html url:https://www.ncbi.nlm.nih.gov/pubmed/23936961 malignant tumor of Nipple disease_ontology DOID:6628 obsolete malignant neoplasm of nipple true DOID:6628 A breast carcinoma that is located_in the nipple. NCI:C28432 UMLS_CUI:C1334966 disease_ontology DOID:6629 nipple carcinoma DOID:6629 A breast carcinoma that is located_in the nipple. url:http://www.cancer.gov/dictionary?CdrID=45963 NCI:C6387 UMLS_CUI:C1335936 hemangioma of scrotum disease_ontology DOID:663 scrotal angioma DOID:663 disease_ontology DOID:6630 obsolete ovarian dermoid cyst with secondary sarcoma true DOID:6630 disease_ontology DOID:6631 obsolete ovarian dermoid cyst with leiomyosarcoma true DOID:6631 disease_ontology DOID:6632 obsolete ovarian dermoid cyst with angiosarcoma true DOID:6632 A choriocarcinoma that is located in the central nervous system of an adult. NCI:C5793 UMLS_CUI:C1370505 Choriocarcinoma of the adult central nervous system disease_ontology DOID:6634 adult central nervous system choriocarcinoma DOID:6634 A choriocarcinoma that is located in the central nervous system of an adult. url:https://en.wikipedia.org/wiki/Choriocarcinoma A choriocarcinoma characterized by extraembryonic differentiation along trophoblastic lines and high serum and CSF levels of HCG/_-HCG, has_material_basis_in abnormally proliferating cells, derives_from germ cells. NCI:C6206 UMLS_CUI:C1377604 Choriocarcinoma of the paediatric central nervous system Choriocarcinoma of the pediatric central nervous system paediatric CNS choriocarcinoma pediatric CNS choriocarcinoma disease_ontology DOID:6639 childhood CNS choriocarcinoma DOID:6639 A choriocarcinoma characterized by extraembryonic differentiation along trophoblastic lines and high serum and CSF levels of HCG/_-HCG, has_material_basis_in abnormally proliferating cells, derives_from germ cells. url:http://www.ajnr.org/content/31/10/1994 NCI:C7752 SNOMEDCT_US_2023_03_01:254789007 UMLS_CUI:C0263639 Fordyce angiokeratoma Fordyce's spot Fordyce-type Angiokeratoma of scrotum disease_ontology DOID:664 angiokeratoma of Fordyce DOID:664 A breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years. NCI:C9503 SNOMEDCT_US_2023_03_01:708518001 UMLS_CUI:C1334303 Juvenile papillomatosis of the breast disease_ontology DOID:6641 breast juvenile papillomatosis DOID:6641 A breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years. url:https://www.ncbi.nlm.nih.gov/pubmed/7074576 ICD10CM:M48.2 ICD9CM:721.5 SNOMEDCT_US_2023_03_01:202681007 UMLS_CUI:C0158248 Baastrup syndrome Kissing spine disease_ontology DOID:6643 Baastrup's syndrome DOID:6643 NCI:C8292 UMLS_CUI:C0281332 disease_ontology DOID:6648 adult pineoblastoma DOID:6648 A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine. GARD:6460 ICD10CM:M48.1 ICD9CM:721.6 MESH:D004057 MIM:106400 NCI:C84671 SNOMEDCT_US_2023_03_01:31487001 UMLS_CUI:C0020498 Ankylosing vertebral hyperostosis DISH Disseminated idiopathic skeletal hyperostosis disease_ontology Forestier disease DOID:6652 OMIM mapping confirmed by DO. [SN]. diffuse idiopathic skeletal hyperostosis DOID:6652 A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine. url:http://www.mayoclinic.com/health/diffuse-idiopathic-skeletal-hyperostosis/DS00740 DISH NCI:C27405 UMLS_CUI:C1332954 disease_ontology DOID:6654 childhood central nervous system immature teratoma DOID:6654 A breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and necrosis and in which greater than 50% of the tumor cells are positive for neuroendocrine markers (NSE, chromogranin A, synaptophysin). NCI:C40356 UMLS_CUI:C1511316 disease_ontology DOID:6657 breast large cell neuroendocrine carcinoma DOID:6657 A breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and necrosis and in which greater than 50% of the tumor cells are positive for neuroendocrine markers (NSE, chromogranin A, synaptophysin). url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608661/ DOID:5721 NCI:C5672 NCI:C6875 SNOMEDCT_US_2023_03_01:128628002 UMLS_CUI:C1265996 UMLS_CUI:C1334363 disease_ontology DOID:6658 pulmonary large cell neuroendocrine carcinoma DOID:6658 A cervix carcinoma that has_material_basis_in neuroendocrine tissue and is characterized by a diffuse, organoid, trabecular, or cord-like pattern of neoplastic cells with abundant cytoplasm, large nuclei, prominent nucleoli, and a high mitotic rate. NCI:C40214 UMLS_CUI:C1516417 disease_ontology DOID:6659 cervical large cell neuroendocrine carcinoma DOID:6659 A cervix carcinoma that has_material_basis_in neuroendocrine tissue and is characterized by a diffuse, organoid, trabecular, or cord-like pattern of neoplastic cells with abundant cytoplasm, large nuclei, prominent nucleoli, and a high mitotic rate. url:https://www.ncbi.nlm.nih.gov/pubmed/30642849 Tubulopapillary adenocarcinoma adenocarcinoma in Tubulovillous adenoma adenocarcinoma in tubulovillous adenoma disease_ontology DOID:6663 obsolete papillotubular adenocarcinoma true DOID:6663 regressing naevus disease_ontology DOID:6667 obsolete regressing nevus true DOID:6667 MENOPAUSE SYNDROME Menopausal syndrome (disorder) disease_ontology DOID:6675 obsolete menopausal syndrome true DOID:6675 A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity. GARD:6463 ICD10CM:E23.6 MESH:D007027 NCI:C34625 SNOMEDCT_US_2023_03_01:62999006 UMLS_CUI:C0016724 Babinski-Froelich syndrome Froehlich syndrome Froehlich's syndrome Froelich's syndrome adiposogenital syndrome disease_ontology DOID:6676 Froelich syndrome DOID:6676 A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity. url:https://en.wikipedia.org/wiki/Adiposogenital_dystrophy A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells. NCI:C35699 SNOMEDCT_US_2023_03_01:449784008 UMLS_CUI:C1333292 disease_ontology DOID:6677 No OMIM mapping, confirmed by DO. [LS]. diffuse infiltrative lymphocytosis syndrome DOID:6677 A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells. url:http://en.wikipedia.org/wiki/Diffuse_infiltrative_lymphocytosis_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/21295898 A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails. MESH:C536736 MIM:189500 NCI:C40553 SNOMEDCT_US_2023_03_01:400036004 UMLS_CUI:C0406735 Hypoplastic enamel-onycholysis-hypohidrosis syndrome Witkop's syndrome disease_ontology DOID:6678 OMIM mapping confirmed by DO. [LS]. tooth and nail syndrome DOID:6678 A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails. url:http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tooth%20and%20Nail%20Syndrome A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles. MESH:D009221 NCI:C3253 SNOMEDCT_US_2023_03_01:44551007 UMLS_CUI:C0027122 Myisitis ossificans Ossification - muscle disease_ontology DOID:668 myositis ossificans DOID:668 A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles. url:http://en.wikipedia.org/wiki/Myositis_ossificans url:http://www.merriam-webster.com/medlineplus/myositis A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor. MESH:D002194 NCI:C34446 SNOMEDCT_US_2023_03_01:44906001 UMLS_CUI:C0006895 Capgras delusion theory disease_ontology DOID:6680 Capgras syndrome DOID:6680 A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor. url:http://en.wikipedia.org/wiki/Capgras_delusion disease_ontology DOID:6681 No OMIM mapping, confirmed by DO. [LS]. obsolete diffuse leiomyomatosis syndrome true DOID:6681 A bone structure disease that has_material_basis_in displacement located_in set of vertebrae. ICD10CM:M43.1 MESH:D013168 MIM:184200 NCI:C35033 SNOMEDCT_US_2023_03_01:157003009 UMLS_CUI:C0038016 disease_ontology DOID:6682 spondylolisthesis DOID:6682 A bone structure disease that has_material_basis_in displacement located_in set of vertebrae. url:http://en.wikipedia.org/wiki/Spondylolisthesis url:http://www.nlm.nih.gov/medlineplus/ency/article/001260.htm url:http://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face. GARD:4775 ICD10CM:Q87.19 MESH:C535331 MIM:305400 NCI:C129720 SNOMEDCT_US_2023_03_01:205809002 UMLS_CUI:C0175701 Aarskog-Scott syndrome Greig's syndrome disease_ontology DOID:6683 OMIM mapping confirmed by DO. [SN]. X-linked Aarskog syndrome DOID:6683 A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face. url:http://www.nlm.nih.gov/medlineplus/ency/article/001654.htm A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. GARD:8176 MESH:C536012 MIM:100700 NCI:C35809 UMLS_CUI:C1332135 disease_ontology DOID:6686 OMIM mapping confirmed by DO. [SN]. Achard syndrome DOID:6686 A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. url:http://en.wikipedia.org/wiki/Achard_syndrome NCI:C35467 SNOMEDCT_US_2023_03_01:238824006 UMLS_CUI:C0473563 Paroxysmal hematoma of the finger disease_ontology DOID:6687 Achenbach syndrome DOID:6687 A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. GARD:8686 ICD10CM:D89.82 ICD9CM:279.41 MESH:D056735 MIM:601859 NCI:C37864 ORDO:3261 SNOMEDCT_US_2023_03_01:702444009 UMLS_CUI:C1328840 ALPS Canale-Smith syndrome disease_ontology DOID:6688 Xref MGI. OMIM mapping confirmed by DO. [SN]. autoimmune lymphoproliferative syndrome MESH:D056735 DOID:6688 A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. url:http://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome ALPS Fat adherence syndrome of extraocular muscle (disorder) disease_ontology DOID:6689 obsolete adherence syndrome true DOID:6689 disease_ontology DOID:6690 obsolete acroparesthesia syndrome true DOID:6690 A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. GARD:370 MESH:C535330 MIM:214900 NCI:C35709 ORDO:1414 SNOMEDCT_US_2023_03_01:28724005 UMLS_CUI:C0268314 Cholestasis-edema syndrome, Norwegian type disease_ontology DOID:6691 OMIM mapping confirmed by DO. [SN]. Aagenaes syndrome DOID:6691 A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. url:http://en.wikipedia.org/wiki/Aagenaes_syndrome A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers. ICD10CM:M53.0 MESH:D055010 NCI:C34411 SNOMEDCT_US_2023_03_01:17300000 UMLS_CUI:C0376378 Cervicocranial syndrome Posterior cervical sympathetic syndrome disease_ontology DOID:6692 No OMIM mapping confirmed by DO. [SN]. Barre-Lieou syndrome DOID:6692 A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1738935/ A choriocarcinoma of the testis that is characterized by a composition of only cytotrophoblasts and absent syncytiotrophoblastic giant cells. NCI:C39935 UMLS_CUI:C1515290 disease_ontology DOID:6693 testicular monophasic choriocarcinoma DOID:6693 A choriocarcinoma of the testis that is characterized by a composition of only cytotrophoblasts and absent syncytiotrophoblastic giant cells. url:https://pubmed.ncbi.nlm.nih.gov/9060597/ NCI:C6471 UMLS_CUI:C1336544 disease_ontology DOID:6696 synchronous multifocal osteogenic sarcoma DOID:6696 NCI:C6472 UMLS_CUI:C1332342 disease_ontology DOID:6697 asynchronous multifocal osteogenic sarcoma DOID:6697 nervous tissue disease disease_ontology DOID:67 obsolete neural tissue disease true DOID:67 A substance abuse that involves the recurring use of amphetamines despite negative consequences. DOID:12067 DOID:14436 DOID:669 ICD9CM:305.7 UMLS_CUI:C0154536 disease_ontology DOID:670 amphetamine abuse DOID:670 A substance abuse that involves the recurring use of amphetamines despite negative consequences. url:http://en.wikipedia.org/wiki/Amphetamine_Abuse NCI:C8398 SNOMEDCT_US_2023_03_01:254555008 UMLS_CUI:C0345799 cancer of Fundus of stomach carcinoma of fundus of stomach disease_ontology DOID:6700 gastric fundus carcinoma DOID:6700 recurrent carcinoma of the stomach recurrent gastric cancer disease_ontology DOID:6702 obsolete recurrent stomach cancer true DOID:6702 NCI:C6795 UMLS_CUI:C1333787 carcinoma of Pylorus of stomach disease_ontology DOID:6703 gastric pylorus carcinoma DOID:6703 Undifferentiated carcinoma of stomach disease_ontology DOID:6704 obsolete anaplastic gastric carcinoma true DOID:6704 NCI:C8399 SNOMEDCT_US_2023_03_01:254557000 UMLS_CUI:C0345804 cancer of body of stomach carcinoma of body of stomach disease_ontology DOID:6705 gastric body carcinoma DOID:6705 NCI:C40959 UMLS_CUI:C1515294 disease_ontology DOID:6706 tubular variant testicular seminoma DOID:6706 NCI:C4335 SNOMEDCT_US_2023_03_01:189951004 UMLS_CUI:C0334616 MPNST with Rhabdomyosarcoma MPNST with rhabdomyoblastic differentiation malignant Triton tumour malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma disease_ontology DOID:6707 malignant triton tumor DOID:6707 relapsed carcinoma of Ovary disease_ontology DOID:6708 obsolete recurrent ovarian epithelial cancer true DOID:6708 secondary carcinoma from the anus disease_ontology DOID:6710 obsolete metastatic anal cancer true DOID:6710 A syndrome that is characterized by loss of function of the anterior two-thirds of the spinal cord that results from ischemia of the anterior spinal artery. GARD:9653 ICD10CM:G83.82 MESH:D020759 SNOMEDCT_US_2023_03_01:282785008 UMLS_CUI:C0221069 Anterior spinal artery occlusion syndrome disease_ontology DOID:6712 anterior spinal artery syndrome MESH:D020759 DOID:6712 A syndrome that is characterized by loss of function of the anterior two-thirds of the spinal cord that results from ischemia of the anterior spinal artery. url:https://en.wikipedia.org/wiki/Anterior_spinal_artery_syndrome An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain. DOID:12214 DOID:3455 DOID:8231 EFO:0000712 ICD10CM:I67.9 ICD9CM:437.9 MESH:D002561 NCI:C2938 SNOMEDCT_US_2023_03_01:266312006 UMLS_CUI:C0007820 CVA cerebrovascular disorder stroke disease_ontology DOID:6713 OMIM mapping confirmed by DO. [SN]. cerebrovascular disease DOID:6713 An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain. url:http://en.wikipedia.org/wiki/Cerebrovascular_disease url:http://www.ncbi.nlm.nih.gov/books/NBK378/ CVA Circumscribed Storiform Collagenoma Circumscribed storiform collagenoma (disorder) disease_ontology DOID:6714 obsolete circumscribed storiform collagenoma true DOID:6714 Collagen hamartoma (morphologic abnormality) Collagen naevus Collagen nevus Collagen nevus of skin (disorder) disease_ontology DOID:6715 obsolete collagen nevus of skin true DOID:6715 Eruptive collagenoma (disorder) disease_ontology DOID:6716 obsolete eruptive collagenoma true DOID:6716 A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen. DOID:671 GARD:7683 ICD10CM:C26.1 MESH:D013160 NCI:C3383 NCI:C3539 SNOMEDCT_US_2023_03_01:127230005 SNOMEDCT_US_2023_03_01:94071006 UMLS_CUI:C0037999 UMLS_CUI:C0153470 Splenic neoplasm malignant Splenic tumor malignant tumour of spleen spleen neoplasm disease_ontology DOID:672 spleen cancer DOID:672 A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3614769/ A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands. NCI:C39865 UMLS_CUI:C1516285 disease_ontology DOID:6721 Littre gland carcinoma DOID:6721 A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands. url:http://en.wikipedia.org/wiki/Urethral_gland NCI:C6886 SNOMEDCT_US_2023_03_01:128710005 UMLS_CUI:C1266093 Thymoma, mixed type, malignant disease_ontology DOID:6723 malignant type AB thymoma DOID:6723 A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord. DOID:10097 DOID:12235 ICD10CM:M48.0 ICD10CM:M48.02 ICD10CM:M48.061 ICD9CM:723.0 ICD9CM:724.00 MESH:D013130 NCI:C177444 NCI:C177445 SNOMEDCT_US_2023_03_01:18347007 SNOMEDCT_US_2023_03_01:268082002 SNOMEDCT_US_2023_03_01:83561009 UMLS_CUI:C0037944 UMLS_CUI:C0158280 UMLS_CUI:C0158288 Spinal stenosis of lumbar region cervical spinal stenosis lumbar spinal stenosis disease_ontology DOID:6725 spinal stenosis DOID:6725 A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord. url:http://en.wikipedia.org/wiki/Spinal_stenosis url:http://www.mayoclinic.com/health/spinal-stenosis/DS00515 url:http://www.nlm.nih.gov/medlineplus/ency/article/000441.htm A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes. ICDO:9420/3 MESH:D001254 NCI:C4322 SNOMEDCT_US_2023_03_01:71314006 UMLS_CUI:C0334582 Fibrillary Astrocytic tumors disease_ontology DOID:6726 fibrillary astrocytoma DOID:6726 A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes. url:http://en.wikipedia.org/wiki/Fibrillary_astrocytoma url:http://www.cancer.gov/dictionary?CdrID=45602 NCI:C6761 UMLS_CUI:C1333099 Colonic small cell carcinoma disease_ontology DOID:6727 colon small cell carcinoma DOID:6727 disease_ontology DOID:6728 obsolete recurrent pediatric optic nerve astrocytoma true DOID:6728 disease_ontology DOID:6729 obsolete recurrent pediatric optic nerve glioma true DOID:6729 recurrent pediatric visual pathway astrocytoma disease_ontology DOID:6730 obsolete recurrent childhood optic tract astrocytoma true DOID:6730 relapsed glioma of the pediatric visual pathway disease_ontology DOID:6731 obsolete recurrent glioma of childhood visual pathway true DOID:6731 A bile duct cystadenoma located_in an intrahepatic bile duct. NCI:C96835 UMLS_CUI:C1334257 Cystadenoma of the Intrahepatic bile duct disease_ontology DOID:6733 intrahepatic bile duct cystadenoma DOID:6733 A bile duct cystadenoma located_in an intrahepatic bile duct. url:https://pubmed.ncbi.nlm.nih.gov/19630118/ NCI:C5323 UMLS_CUI:C1334300 Neurilemmoma of Jugular Foramen disease_ontology DOID:6735 schwannoma of jugular foramen DOID:6735 An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. ICD10CM:Q35 ICD9CM:749.0 MESH:D002972 NCI:C87069 ORDO:99772 SNOMEDCT_US_2023_03_01:156940009 UMLS_CUI:C0008925 Palatoschisis disease_ontology DOID:674 OMIM mapping confirmed by DO. [SN]. cleft palate DOID:674 An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. url:http://en.wikipedia.org/wiki/Cleft_lip_and_palate#Cleft_palate url:http://ghr.nlm.nih.gov/glossary=cleftpalate NCI:C7982 UMLS_CUI:C0279674 small cell carcinoma of the Cervix Uteri disease_ontology small cell carcinoma of the cervix DOID:6740 cervix small cell carcinoma DOID:6740 A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times. NCI:C8287 UMLS_CUI:C0281267 Bilateral breast carcinoma disease_ontology DOID:6741 bilateral breast cancer DOID:6741 A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times. url:http://www.ehow.com/facts_5923640_treatments-bilateral-breast-cancer_.html NCI:C40370 UMLS_CUI:C1515107 disease_ontology DOID:6742 synchronous bilateral breast carcinoma DOID:6742 relapsed malignant fibrous Histiocytoma disease_ontology DOID:6750 obsolete malignant fibrous histiocytoma recurrent true DOID:6750 An auditory system benign neoplasm that derives_from adipose tissue and is located_in the internal auditory canal. NCI:C5452 UMLS_CUI:C1334226 Lipoma of the Internal Auditory canal disease_ontology DOID:6752 internal auditory canal lipoma DOID:6752 An auditory system benign neoplasm that derives_from adipose tissue and is located_in the internal auditory canal. url:https://www.ncbi.nlm.nih.gov/pubmed/19813171 SNOMEDCT_US_2023_03_01:37279009 UMLS_CUI:C0333572 Amyloid neoplasm amyloid tumour disease_ontology DOID:6755 amyloid tumor DOID:6755 A thoracic cancer that is located_in the chest wall. DOID:3724 NCI:C4580 NCI:C6712 SNOMEDCT_US_2023_03_01:93754006 UMLS_CUI:C0346948 UMLS_CUI:C1332933 Lymphoma of the Chest Wall chest wall cancer lymphoma of chest wall malignant neoplasm of chest wall malignant tumor of Chest Wall disease_ontology DOID:6758 chest wall lymphoma DOID:6758 A thoracic cancer that is located_in the chest wall. url:http://en.wikipedia.org/wiki/Chest_wall A bone cancer and lymphoma by site that results_in lymphoma starting in the bone. NCI:C6620 SNOMEDCT_US_2023_03_01:766935007 UMLS_CUI:C1332582 Lymphoma of the bone lymphoma of bone disease_ontology DOID:6759 bone lymphoma DOID:6759 A bone cancer and lymphoma by site that results_in lymphoma starting in the bone. url:http://lymphoma.about.com/od/nonhodgkinlymphoma/qt/bonelymphoma.htm A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. DOID:10129 DOID:1264 DOID:675 GARD:3067 ICD10CM:M08.4 ICD9CM:714.3 ICD9CM:714.31 ICD9CM:714.32 ICD9CM:714.33 MIM:604302 NCI:C26979 NCI:C61279 ORDO:92 SNOMEDCT_US_2023_03_01:201798003 SNOMEDCT_US_2023_03_01:74391003 SNOMEDCT_US_2023_03_01:7441009 SNOMEDCT_US_2023_03_01:83793004 UMLS_CUI:C0157916 UMLS_CUI:C0157917 UMLS_CUI:C0157918 UMLS_CUI:C0409667 Pauciarticular onset juvenile chronic arthritis Still's disease acute juvenile rheumatoid arthritis juvenile chronic polyarthritis juvenile idiopathic arthritis monarticular juvenile rheumatoid arthritis pauciarticular juvenile arthritis systemic juvenile rheumatoid arthritis disease_ontology DOID:676 Xref MGI. juvenile rheumatoid arthritis DOID:676 A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. url:http://www.mayoclinic.com/health/juvenile-rheumatoid-arthritis/DS00018 url:http://www.nlm.nih.gov/medlineplus/ency/article/000451.htm url:http://www.umm.edu/ency/article/000451.htm UMLS_CUI:C0519063 lymphoma of lung pulmonary Lymphoma disease_ontology DOID:6760 lung lymphoma DOID:6760 Cutaneous lymphoma (disorder) Cutaneous lymphoma, NOS disease_ontology DOID:6761 obsolete skin lymphoma true DOID:6761 NCI:C6716 UMLS_CUI:C1336504 Lymphoma of Sternum lymphoma of the sternum disease_ontology DOID:6762 sternum lymphoma DOID:6762 peripheral neuroblastoma disease_ontology DOID:6764 obsolete peripheral neuroblastoma true DOID:6764 An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies. NCI:C39990 UMLS_CUI:C1514199 disease_ontology DOID:6774 polyembryoma of the ovary DOID:6774 An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies. url:https://en.wikipedia.org/wiki/Polyembryoma A breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation. NCI:C40395 UMLS_CUI:C1518167 disease_ontology DOID:6776 breast myoepithelial carcinoma DOID:6776 A breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840516/ An endometrial adenocarcinoma that is characterized by papillary differentiation. NCI:C27846 UMLS_CUI:C1336962 disease_ontology DOID:6777 villoglandular endometrial endometrioid adenocarcinoma DOID:6777 An endometrial adenocarcinoma that is characterized by papillary differentiation. url:https://www.ncbi.nlm.nih.gov/pubmed/8179072 localized Urothelial carcinoma of the renal Pelvis and Ureter disease_ontology DOID:6778 obsolete renal pelvis and ureter localized transitional cell cancer true DOID:6778 A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. GARD:7471 ICD10CM:G23.1 MESH:D013494 MIM:601104 MIM:609454 MIM:610898 NCI:C85028 ORDO:683 SNOMEDCT_US_2023_03_01:192975003 UMLS_CUI:C0038868 Steele-Richardson-Olszewski syndrome progressive supranuclear ophthalmoplegia disease_ontology DOID:678 Xref MGI. OMIM mapping confirmed by DO. [SN]. progressive supranuclear palsy DOID:678 A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. url:http://en.wikipedia.org/wiki/Progressive_supranuclear_palsy url:http://www.ninds.nih.gov/disorders/psp/psp.htm disease_ontology DOID:6784 obsolete pediatric desmoplastic small round cell tumor true DOID:6784 A small cell sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass. GARD:6265 ICDO:8806/3 NCI:C8300 desmoplastic small round-cell neoplasm disease_ontology DOID:6785 desmoplastic small round cell tumor DOID:6785 A small cell sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass. url:https://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor url:https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/desmoplastic-small-round-cell-tumors A botryoid rhabdomyosarcoma that presents in childhood. NCI:C35574 UMLS_CUI:C1332944 childhood sarcoma Botryoides disease_ontology DOID:6786 childhood botryoid rhabdomyosarcoma DOID:6786 A botryoid rhabdomyosarcoma that presents in childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/8088765 A vagina botryoid rhabdomyosarcoma that presents in childhood. NCI:C35556 UMLS_CUI:C1332945 vaginal childhood sarcoma Botryoides disease_ontology DOID:6787 childhood vagina botryoid rhabdomyosarcoma DOID:6787 A vagina botryoid rhabdomyosarcoma that presents in childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/27870705 A botryoid rhabdomyosarcoma that is located_in the vagina. NCI:C40268 UMLS_CUI:C1511275 disease_ontology DOID:6788 vagina botryoid rhabdomyosarcoma DOID:6788 A botryoid rhabdomyosarcoma that is located_in the vagina. url:https://www.ncbi.nlm.nih.gov/pubmed/15887839 NCI:C36098 UMLS_CUI:C1332946 childhood sarcoma Botryoides of the Vulva disease_ontology DOID:6789 vulvar childhood botryoid-type embryonal rhabdomyosarcoma DOID:6789 A brain disease that is characterized by dysfunctional movement, located_in basal ganglia that has_material_basis_in diseased components of the basal ganglia and associated neural circuits. MESH:D001480 SNOMEDCT_US_2023_03_01:70835005 UMLS_CUI:C0004782 disease_ontology DOID:679 basal ganglia disease DOID:679 A brain disease that is characterized by dysfunctional movement, located_in basal ganglia that has_material_basis_in diseased components of the basal ganglia and associated neural circuits. url:https://en.wikipedia.org/wiki/Basal_ganglia_disease mixed Yolk Sac tumor and teratoma with Seminoma of testis disease_ontology DOID:6792 obsolete mixed endodermal sinus neoplasm and teratoma with seminoma of the testis true DOID:6792 disease_ontology DOID:68 obsolete lymphomyeloid tissue disease true DOID:68 A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain. MESH:D024801 UMLS_CUI:C0949664 disease_ontology DOID:680 tauopathy DOID:680 A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain. url:http://en.wikipedia.org/wiki/Tauopathy A hematoloic cancer that is located_in the blood or bone marrow that has come back in a patient. recurrent Hematologic Malignancy disease_ontology DOID:6801 obsolete recurrent hematologic cancer true DOID:6801 A hematoloic cancer that is located_in the blood or bone marrow that has come back in a patient. url:http://www.cancer.gov/dictionary/?CdrID=45708 url:http://www.cancer.org/docroot/CRI/content/CRI_2_4_1x_What_is_Recurrent_Cancer.asp disease_ontology DOID:6802 obsolete relapsed precursor T lymphoblastic lymphoma/leukemia true DOID:6802 A recurrent hematologic cancer that is located_in bone marrow and is characterized by the production of too many lymphocytes. relapsed adult acute lymphoid Leukemia disease_ontology DOID:6803 obsolete recurrent adult acute lymphocytic leukemia true DOID:6803 A recurrent hematologic cancer that is located_in bone marrow and is characterized by the production of too many lymphocytes. url:http://my.clevelandclinic.org/disorders/acute_lymphocytic_leukemia/hic_adult_acute_lymphoblastic_leukemia.aspx A sarcoma of colon that is located_in the colon. NCI:C5516 SNOMEDCT_US_2023_03_01:1156795003 UMLS_CUI:C1333091 Colonic Kaposi's sarcoma disease_ontology DOID:6804 colon Kaposi sarcoma DOID:6804 A sarcoma of colon that is located_in the colon. url:http://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp Moniliform hamartoma (disorder) disease_ontology DOID:6807 obsolete hamartoma Moniliformis true DOID:6807 Basal cell nevus with Comedones disease_ontology DOID:6808 obsolete Basaloid follicular hamartoma true DOID:6808 A vaginal adenoma that resembles the colorectal tubular adenoma. disease_ontology DOID:6809 retired NCI concept. obsolete vaginal tubular adenoma true DOID:6809 A vaginal adenoma that resembles the colorectal tubular adenoma. url:https://www.ncbi.nlm.nih.gov/pubmed/25672089 GARD:10928 ICD10CM:G12.22 ICD9CM:335.22 MESH:D010244 NCI:C85026 SNOMEDCT_US_2023_03_01:54304004 UMLS_CUI:C0030442 disease_ontology DOID:681 progressive bulbar palsy DOID:681 A pilocytic astrocytoma that occurs during adolescence. MESH:D001254 NCI:C27081 UMLS_CUI:C0280783 disease_ontology DOID:6811 juvenile pilocytic astrocytoma DOID:6811 A pilocytic astrocytoma that occurs during adolescence. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27081 A pilocytic astrocytoma that occurs during childhood. NCI:C4048 UMLS_CUI:C1332995 pediatric Pilocytic astrocytoma disease_ontology DOID:6812 childhood pilocytic astrocytoma DOID:6812 A pilocytic astrocytoma that occurs during childhood. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4048 GARD:6141 ICD10CM:T79.A0 ICD9CM:958.90 MESH:D003161 NCI:C118422 SNOMEDCT_US_2023_03_01:212379008 UMLS_CUI:C0009492 Compartmental syndrome disease_ontology DOID:682 compartment syndrome DOID:682 grade III pediatric astrocytoma of the brain disease_ontology DOID:6820 obsolete anaplastic childhood astrocytoma of brain true DOID:6820 GARD:4210 ICDO:8971/3 MESH:C537162 NCI:C4265 SNOMEDCT_US_2023_03_01:53618008 UMLS_CUI:C0334489 disease_ontology DOID:6823 pancreatoblastoma DOID:6823 relapsed pancreatic carcinoma disease_ontology DOID:6826 obsolete recurrent cancer of pancreas true DOID:6826 A pancreatic carcinoma that is characterized by its papillary architecture. NCI:C5728 SNOMEDCT_US_2023_03_01:782697005 UMLS_CUI:C1336029 disease_ontology DOID:6827 pancreatic solid pseudopapillary carcinoma DOID:6827 A pancreatic carcinoma that is characterized by its papillary architecture. url:http://en.wikipedia.org/wiki/Solid_pseudopapillary_tumour url:https://www.ncbi.nlm.nih.gov/pubmed/19268906 Unresectable pancreatic carcinoma disease_ontology DOID:6828 obsolete non-resectable pancreatic carcinoma true DOID:6828 MESH:D009443 NCI:C3500 SNOMEDCT_US_2023_03_01:95663000 UMLS_CUI:C0235025 peripheral motor neuropathy disease_ontology DOID:683 motor neuritis DOID:683 pancreatic carcinoma, Resectable disease_ontology DOID:6830 obsolete resectable pancreas carcinoma true DOID:6830 recurrent anal canal cancer disease_ontology DOID:6835 obsolete recurrent anal cancer true DOID:6835 A rete ovarii benign neoplasm that derives_from glandular epithelial cells. NCI:C40018 SNOMEDCT_US_2023_03_01:703654008 UMLS_CUI:C1514905 disease_ontology DOID:6837 rete ovarii adenoma DOID:6837 A rete ovarii benign neoplasm that derives_from glandular epithelial cells. url:https://www.ncbi.nlm.nih.gov/pubmed/9416702 A rete ovarii benign neoplasm that is derives_from epithelial and stromal cells. NCI:C40020 UMLS_CUI:C1514906 disease_ontology DOID:6838 rete ovarii cystadenofibroma DOID:6838 A rete ovarii benign neoplasm that is derives_from epithelial and stromal cells. url:https://www.ncbi.nlm.nih.gov/pubmed/21139896 An intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the breast. It is confined to the duct-lobular system, originates from the terminal duct-lobular unit and displays different cytological and architectural patterns of proliferation. NCI:C27942 UMLS_CUI:C1334631 Intraductal Proliferative Lesion disease_ontology DOID:6839 breast intraductal proliferative lesion DOID:6839 An intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the breast. It is confined to the duct-lobular system, originates from the terminal duct-lobular unit and displays different cytological and architectural patterns of proliferation. url:https://www.hindawi.com/journals/ijso/2012/501904/ A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver. DOID:5005 EFO:0000182 ICD10CM:C22.0 ICDO:8170/3 MESH:D006528 MIM:114550 NCI:C3099 ORDO:88673 SNOMEDCT_US_2023_03_01:154469006 UMLS_CUI:C2239176 Hepatoma disease_ontology DOID:684 OMIM mapping confirmed by DO. [SN]. hepatocellular carcinoma DOID:684 A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver. url:http://cancergenome.nih.gov/cancersselected/LiverHepatocellularCarcinoma url:http://en.wikipedia.org/wiki/Hepatocellular_carcinoma url:http://www.omim.org/entry/114550 disease_ontology DOID:6840 obsolete glandular cell intraepithelial neoplasm true DOID:6840 A breast intraductal proliferative lesion that is characterized by columnar cell changes with cytologic atypia. NCI:C36086 SNOMEDCT_US_2023_03_01:860895001 UMLS_CUI:C1333620 disease_ontology DOID:6841 flat ductal epithelial atypia DOID:6841 A breast intraductal proliferative lesion that is characterized by columnar cell changes with cytologic atypia. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424157/ NCI:C6186 UMLS_CUI:C1335752 sarcomatoid transitional cell carcinoma of renal Pelvis disease_ontology DOID:6844 kidney pelvis sarcomatoid transitional cell carcinoma DOID:6844 NCI:C39879 UMLS_CUI:C1512750 disease_ontology DOID:6845 infiltrating ureter transitional cell carcinoma DOID:6845 NCI:C8498 UMLS_CUI:C1512419 disease_ontology DOID:6846 familial melanoma DOID:6846 A botryoid rhabdomyosarcoma that is present in an adult. NCI:C36099 UMLS_CUI:C1332185 disease_ontology DOID:6847 adult botryoid rhabdomyosarcoma DOID:6847 A botryoid rhabdomyosarcoma that is present in an adult. url:https://www.ncbi.nlm.nih.gov/pubmed/17955586 A vagina botryoid rhabdomyosarcoma that presents in adulthood. NCI:C40267 UMLS_CUI:C1515893 disease_ontology DOID:6848 adult vagina botryoid rhabdomyosarcoma DOID:6848 A vagina botryoid rhabdomyosarcoma that presents in adulthood. url:https://www.ncbi.nlm.nih.gov/pubmed/2190875 A stage 0 cancer of the testis consisting of the uniform precursor of testicular germ cell tumors (GCTs). ITGCNU can be found in testicular tissue adjacent to GCTs in approximately 90 percent of adult cases and is found in all groups at risk for testicular cancer, including men with cryptorchid testes, prior testicular cancer, and individuals with abnormal sexual differentiation. ITGCNU testicular Intraepithelial Neoplasia disease_ontology DOID:6849 obsolete testicular intratubular germ cell neoplasia of the unclassified type true DOID:6849 A stage 0 cancer of the testis consisting of the uniform precursor of testicular germ cell tumors (GCTs). ITGCNU can be found in testicular tissue adjacent to GCTs in approximately 90 percent of adult cases and is found in all groups at risk for testicular cancer, including men with cryptorchid testes, prior testicular cancer, and individuals with abnormal sexual differentiation. url:http://www.uptodate.com/patients/content/topic.do;jsessionid=AF34B529665BBA3D33DEFFFC30543A6E.0503?topicKey=~Kq11UoNm8vmBaK&selectedTitle=1~8&source=search_result hamartoma of the Eccrine Sweat gland disease_ontology DOID:6850 obsolete hamartoma of Eccrine Sweat gland true DOID:6850 Porokeratotic Eccrine duct and Hair Follicle nevus Porokeratotic eccrine ostial and dermal duct nevus (disorder) disease_ontology DOID:6851 obsolete Linear Eccrine nevus with Comedones true DOID:6851 Eccrine Angiomatous nevus Eccrine angiomatous hamartoma (disorder) disease_ontology DOID:6852 obsolete eccrine angiomatous hamartoma true DOID:6852 NCI:C5309 UMLS_CUI:C1333475 primary Ectopic meningioma of ethmoidal sinus disease_ontology DOID:6854 ethmoid sinus ectopic meningioma DOID:6854 NCI:C6753 UMLS_CUI:C1335419 teratoma of Pineal Area disease_ontology DOID:6856 pineal region teratoma DOID:6856 A mature teratoma that is located_in the pineal region. NCI:C6754 UMLS_CUI:C1335417 Mature teratoma of the Pineal Area disease_ontology DOID:6857 pineal region mature teratoma DOID:6857 A mature teratoma that is located_in the pineal region. url:https://www.ncbi.nlm.nih.gov/pubmed/28236067 NCI:C6755 UMLS_CUI:C1335416 Atypical Pineal teratoma disease_ontology DOID:6858 pineal region immature teratoma DOID:6858 A liver cancer that has_material_basis_in epithelial cells. NCI:C7927 UMLS_CUI:C0279000 Liver and Intrahepatic bile duct carcinoma disease_ontology DOID:686 liver carcinoma DOID:686 A liver cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma url:http://en.wikipedia.org/wiki/Liver_cancer disease_ontology DOID:6860 obsolete Endobronchial hamartoma true DOID:6860 relapsed cancer of the gallbladder disease_ontology DOID:6861 obsolete recurrent cancer of gallbladder true DOID:6861 An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells. NCI:C27849 UMLS_CUI:C1518768 disease_ontology DOID:6865 oxyphilic endometrial endometrioid adenocarcinoma DOID:6865 An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells. url:https://pubmed.ncbi.nlm.nih.gov/7814190/ url:https://www.researchgate.net/publication/15385398_Endometrioid_Carcinoma_of_the_Ovary_and_Endometrium_Oxyphilic_Cell_Type NCI:C37870 UMLS_CUI:C1334657 disease_ontology DOID:6867 mediastinal gray zone lymphoma DOID:6867 NCI:C6633 UMLS_CUI:C1334665 Lymphoma of mediastinum disease_ontology DOID:6868 mediastinal malignant lymphoma DOID:6868 MESH:D008579 NCI:C4960 UMLS_CUI:C0751304 disease_ontology DOID:6869 parasagittal meningioma DOID:6869 GARD:2657 ICD10CM:C22.2 ICDO:8970/3 MESH:D018197 NCI:C3728 SNOMEDCT_US_2023_03_01:109843000 UMLS_CUI:C0206624 disease_ontology DOID:687 hepatoblastoma DOID:687 Cockade nevus (disorder) disease_ontology DOID:6870 obsolete cockade nevus true DOID:6870 NCI:C5155 UMLS_CUI:C1336046 neuroblastoma of the Spinal Cord disease_ontology DOID:6871 spinal cord neuroblastoma DOID:6871 NCI:C5406 UMLS_CUI:C1336048 Spinal Cord PNET disease_ontology DOID:6872 spinal cord primitive neuroectodermal neoplasm DOID:6872 A reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops_from areas of friction, or may be associated with HPV virus, or Crohn's disease. NCI:C3374 SNOMEDCT_US_2023_03_01:156440000 UMLS_CUI:C0037293 Fibroepithelial polyp Fibroepithelial polyp of skin cutaneous tag soft fibroma disease_ontology DOID:6873 skin tag DOID:6873 A reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops_from areas of friction, or may be associated with HPV virus, or Crohn's disease. url:https://en.wikipedia.org/wiki/Skin_tag disease_ontology DOID:6874 obsolete type 1a ALPS true DOID:6874 pediatric mixed type Rhabdomyosarcoma disease_ontology DOID:6876 obsolete mixed childhood rhabdomyosarcoma true DOID:6876 hamartoma of the Apocrine Sweat gland disease_ontology DOID:6879 obsolete hamartoma of Apocrine Sweat gland true DOID:6879 A germ cell cancer that is associated with an embryo. MESH:D009373 NCI:C3264 UMLS_CUI:C0027654 embryo neoplasm embryonal neoplasm disease_ontology DOID:688 embryonal cancer DOID:688 A germ cell cancer that is associated with an embryo. url:http://www.cancer.gov/dictionary/?CdrID=44250 A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel. NCI:C5336 UMLS_CUI:C1335994 Fibrosarcoma, small Intestine disease_ontology DOID:6880 small bowel fibrosarcoma DOID:6880 A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel. url:http://en.wikipedia.org/wiki/Fibrosarcoma NCI:C6176 UMLS_CUI:C1336878 ureteral small cell carcinoma disease_ontology DOID:6886 ureter small cell carcinoma DOID:6886 recurrent Ureter carcinoma disease_ontology DOID:6887 obsolete recurrent ureteric cancer true DOID:6887 NCI:C4830 SNOMEDCT_US_2023_03_01:300988009 UMLS_CUI:C0577692 transitional cell carcinoma of ureter ureteral Urothelial cell carcinoma disease_ontology DOID:6888 ureter transitional cell carcinoma DOID:6888 AIDS Related carcinoma of the uterine Cervix disease_ontology DOID:6893 obsolete AIDS-related cervical cancer true DOID:6893 AIDS-Related Kaposi's sarcoma of Cervix disease_ontology DOID:6894 obsolete AIDS-related cervical Kaposi's sarcoma true DOID:6894 A Kaposi's sarcoma and AIDS-related malignancy that results_in the occurence of Kaposi's sarcoma in people that have progressed to AIDS. AIDS with Kaposi's sarcoma (disorder) Autoimmune deficiency syndrome-Related Kaposi sarcoma Epidemic Kaposi's sarcoma HIV disease resulting in Kaposi's sarcoma (disorder) disease_ontology DOID:6895 obsolete AIDS-related Kaposi's sarcoma true DOID:6895 A Kaposi's sarcoma and AIDS-related malignancy that results_in the occurence of Kaposi's sarcoma in people that have progressed to AIDS. url:http://en.wikipedia.org/wiki/Kaposi%27s_sarcoma disease_ontology DOID:6897 obsolete Malposition and malpresentation of fetus true DOID:6897 An ovarian carcinoma that is biphasic and has_material_basis_in epithelial and mesenchymal elements. DOID:6899 NCI:C40090 UMLS_CUI:C0279392 mixed epithelial carcinoma of Ovary ovary mixed epithelial carcinoma disease_ontology DOID:6898 ovarian seromucinous carcinoma DOID:6898 An ovarian carcinoma that is biphasic and has_material_basis_in epithelial and mesenchymal elements. url:https://www.ncbi.nlm.nih.gov/pubmed/24643255 A mixed epithelial tumor of ovary that is cancerous. disease_ontology DOID:6899 obsolete malignant ovarian mixed epithelial neoplasm true DOID:6899 disease_ontology DOID:69 obsolete hemopoetic tissue disease true DOID:69 pediatric cancer of the Liver pediatric carcinoma of the Liver cell disease_ontology DOID:690 obsolete childhood cancer of liver true DOID:690 NCI:C36102 UMLS_CUI:C1333992 disease_ontology DOID:6901 familiar ovarian carcinoma DOID:6901 A lymphoma by site that is manifested in immune system cells called lymphocytes. NCI:C35690 SNOMEDCT_US_2023_03_01:312939009 UMLS_CUI:C0730306 malignant lymphoma of eye disease_ontology DOID:6903 eye lymphoma DOID:6903 A lymphoma by site that is manifested in immune system cells called lymphocytes. url:http://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_eye_cancer_74.asp A herpes zoster that is complicated_by AIDS. disease_ontology DOID:6905 obsolete AIDS-related herpes zoster true DOID:6905 A herpes zoster that is complicated_by AIDS. url:http://www.aidsinfonet.org/fact_sheets/view/509 A benign perivascular tumor that is characterized as a vascular variant of a glomus tumor. ICDO:8711/1 NCI:C27496 SNOMEDCT_US_2023_03_01:703603008 UMLS_CUI:C1333824 disease_ontology DOID:6906 glomangiomatosis DOID:6906 A benign perivascular tumor that is characterized as a vascular variant of a glomus tumor. url:https://www.ncbi.nlm.nih.gov/pubmed/28656356 NCI:C6887 SNOMEDCT_US_2023_03_01:128711009 UMLS_CUI:C1266094 Lymphocyte-Predominant Thymoma Thymoma, organoid disease_ontology DOID:6917 predominantly cortical thymoma DOID:6917 DOID:6918 Extramucosal (Perianal) adenocarcinoma of anus adenocarcinoma of anus within Anorectal fistula adenocarcinoma of the anus within Anorectal fistula disease_ontology extramucosal (perianal) adenocarcinoma of the anus DOID:6919 obsolete extramucosal (perianal) adenocarcinoma true DOID:6919 disease_ontology DOID:6923 obsolete fibrolipomatous hamartoma of peripheral nerve true DOID:6923 ICD10CM:G57.3 MESH:D020427 NCI:C27061 SNOMEDCT_US_2023_03_01:34553007 UMLS_CUI:C0270810 Peroneal nerve palsy disease_ontology DOID:6925 peroneal nerve paralysis DOID:6925 ICD10CM:H35.81 ICD9CM:362.83 MESH:D010211 SNOMEDCT_US_2023_03_01:6141006 UMLS_CUI:C0242420 disease_ontology DOID:6929 retinal edema DOID:6929 MESH:D003744 NCI:C34529 SNOMEDCT_US_2023_03_01:196277000 UMLS_CUI:C0011351 enamel hypoplasia disease_ontology DOID:693 dental enamel hypoplasia DOID:693 UMLS_CUI:C0861858 disease_ontology DOID:6931 papillary extrahepatic bile duct adenocarcinoma DOID:6931 NCI:C39859 SNOMEDCT_US_2023_03_01:447765004 UMLS_CUI:C1511190 disease_ontology DOID:6932 urinary bladder inverted papilloma DOID:6932 DOID:2141 NCI:C3842 NCI:C39858 SNOMEDCT_US_2023_03_01:189459005 SNOMEDCT_US_2023_03_01:45083001 UMLS_CUI:C0235754 UMLS_CUI:C1384678 Urothelial papilloma bladder papilloma transitional cell papilloma of bladder urinary bladder Urothelial papilloma disease_ontology DOID:6933 bladder transitional cell papilloma DOID:6933 NCI:C6173 UMLS_CUI:C1336887 Inverted papilloma of the urethra disease_ontology DOID:6934 urethra inverted papilloma DOID:6934 NCI:C6174 UMLS_CUI:C1336874 ureteral Inverted papilloma disease_ontology DOID:6935 ureter inverted papilloma DOID:6935 NCI:C6160 UMLS_CUI:C1519823 disease_ontology DOID:6936 ureter urothelial papilloma DOID:6936 An intraocular retinoblastoma that effects children. NCI:C9047 UMLS_CUI:C1321869 pediatric intraocular retinoblastoma disease_ontology DOID:6938 childhood intraocular retinoblastoma DOID:6938 An intraocular retinoblastoma that effects children. url:https://www.ncbi.nlm.nih.gov/pubmed/29737052 A brain meningioma of childhood that is characterized by brain tumor which develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. NCI:C6253 UMLS_CUI:C1332949 pediatric meningioma of brain disease_ontology DOID:6939 childhood brain meningioma DOID:6939 A brain meningioma of childhood that is characterized by brain tumor which develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. url:https://en.wikipedia.org/wiki/Meningioma url:https://www.ncbi.nlm.nih.gov/pubmed/15886506 An inverted follicular keratosis that is located_in the vulva. NCI:C40291 UMLS_CUI:C1520084 disease_ontology DOID:6943 vulvar inverted follicular keratosis DOID:6943 An inverted follicular keratosis that is located_in the vulva. url:https://www.ncbi.nlm.nih.gov/pubmed/11109167 NCI:C6375 UMLS_CUI:C1336981 Seborrheic Keratosis of Vulva disease_ontology DOID:6944 vulvar seborrheic keratosis DOID:6944 NCI:C9007 SNOMEDCT_US_2023_03_01:201096007 UMLS_CUI:C0334019 Inverted folicular keratosis disease_ontology DOID:6945 inverted follicular keratosis DOID:6945 NCI:C6792 SNOMEDCT_US_2023_03_01:126679002 UMLS_CUI:C0345676 neoplasm of sphenoidal sinus tumor of Sphenoidal sinus disease_ontology DOID:6947 sphenoidal sinus benign neoplasm DOID:6947 A malignant teratoma that has_material_basis_in gastric tissue. NCI:C5256 UMLS_CUI:C1334151 malignant teratoma of stomach disease_ontology DOID:6948 malignant gastric teratoma DOID:6948 A malignant teratoma that has_material_basis_in gastric tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/2067992 An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress. MESH:D003130 UMLS_CUI:C0009426 Combat Neurosis disease_ontology DOID:6950 combat disorder DOID:6950 An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress. url:http://neurolex.org/wiki/Category:Combat_Disorder NCI:C3902 SNOMEDCT_US_2023_03_01:78453009 UMLS_CUI:C0259782 Telangiectatic osteosarcoma disease_ontology DOID:6951 telangiectatic osteogenic sarcoma DOID:6951 An Epstein-Barr virus infectious disease and is_a lymphoma that derives_from lymphocytes, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the lymphocytes that it infects. EBV Related Lymphoma disease_ontology DOID:6954 obsolete Epstein-Barr virus related lymphoma true DOID:6954 An Epstein-Barr virus infectious disease and is_a lymphoma that derives_from lymphocytes, has_material_basis_in Human herpesvirus 4, which causes a growth activation of the lymphocytes that it infects. url:http://lymphoma.about.com/od/riskfactors/qt/ebvlymphoma.htm disease_ontology DOID:6955 obsolete intracranial melanoma true DOID:6955 disease_ontology DOID:6956 obsolete malignant intracranial neoplasm By Morphology true DOID:6956 An aleukemic leukemia cutis that is characterized by infiltration of the skin by neoplastic monocytes. NCI:C5630 UMLS_CUI:C1332232 disease_ontology DOID:6958 aleukemic monocytic leukemia cutis DOID:6958 An aleukemic leukemia cutis that is characterized by infiltration of the skin by neoplastic monocytes. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C5630 NCI:C5555 UMLS_CUI:C1333074 transitional Zone carcinoma of rectum disease_ontology DOID:6959 rectal cloacogenic carcinoma DOID:6959 A Bartholin's gland carcinoma that derives_from squamous epithelial cells. NCI:C40293 UMLS_CUI:C1511052 Bartholin gland squamous cell carcinoma disease_ontology DOID:6961 Bartholin's gland squamous cell carcinoma DOID:6961 A Bartholin's gland carcinoma that derives_from squamous epithelial cells. url:https://en.wikipedia.org/wiki/Bartholin_gland_carcinoma url:https://www.ncbi.nlm.nih.gov/pubmed/22369423 recurrent Cutaneous carcinoma disease_ontology DOID:6962 obsolete recurrent cancer of skin true DOID:6962 An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal caniculi, has_symptom epiphora, has_symptom conjunctivitis, has_symptom eyelid mattering and has_symptom purulent discharge. ICD10CM:H04.33 ICD9CM:375.31 SNOMEDCT_US_2023_03_01:84399007 UMLS_CUI:C0339130 acute canaliculitis, lacrimal acute lacrimal canaliculitis disease_ontology DOID:6969 acute canaliculitis DOID:6969 An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal caniculi, has_symptom epiphora, has_symptom conjunctivitis, has_symptom eyelid mattering and has_symptom purulent discharge. url:https://www.ncbi.nlm.nih.gov/pubmed/16845316 ICD10CM:H04.3 ICD9CM:375.3 SNOMEDCT_US_2023_03_01:302900006 UMLS_CUI:C0339129 disease_ontology DOID:6970 acute inflammation of lacrimal passage DOID:6970 NCI:C7383 UMLS_CUI:C1518882 disease_ontology urothelial papillary carcinoma of the bladder DOID:6975 bladder urothelial papillary carcinoma DOID:6975 NCI:C27202 UMLS_CUI:C1517579 disease_ontology DOID:6976 micropapillary variant infiltrating bladder urothelial carcinoma DOID:6976 MESH:D003969 NCI:C3488 SNOMEDCT_US_2023_03_01:70091000 UMLS_CUI:C0086768 Excessive vasoactive intestinal peptide secretion Verner-Morrison syndrome pancreatic WDHA syndrome disease_ontology DOID:6977 pancreatic cholera DOID:6977 MESH:D003807 NCI:C50778 SNOMEDCT_US_2023_03_01:13468005 UMLS_CUI:C0011432 Sensitive dentin disease_ontology DOID:698 dentin sensitivity DOID:698 relapsed Rectosigmoid cancer disease_ontology DOID:6980 obsolete recurrent rectosigmoid cancer true DOID:6980 Colorectal carcinoma recurrent disease_ontology DOID:6981 obsolete recurrent colorectal cancer true DOID:6981 NCI:C27473 UMLS_CUI:C1333306 disease_ontology DOID:6988 peripheral epithelioid sarcoma DOID:6988 disease_ontology DOID:6989 obsolete non-neoplastic non-molar trophoblastic disorder true DOID:6989 A myopathy that is characterized by mitochondrial dysfunction. MESH:D017240 MIM:251900 NCI:C101328 SNOMEDCT_US_2023_03_01:240096000 UMLS_CUI:C0162670 mitochondrial cytopathy disease_ontology DOID:699 OMIM mapping confirmed by DO. [SN]. mitochondrial myopathy DOID:699 A myopathy that is characterized by mitochondrial dysfunction. url:http://en.wikipedia.org/wiki/Mitochondrial_myopathies url:http://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm disease_ontology DOID:6990 obsolete placental site nodule or plaque true DOID:6990 Exaggerated placental site (disorder) Exaggerated placental site (morphologic abnormality) disease_ontology DOID:6991 obsolete exaggerated placental site true DOID:6991 NCI:C7989 UMLS_CUI:C0279693 mixed cell type Uveal melanoma disease_ontology DOID:6992 intraocular mixed cell type melanoma DOID:6992 NCI:C6101 UMLS_CUI:C1334210 disease_ontology DOID:6993 iris mixed cell melanoma DOID:6993 NCI:C9088 SNOMEDCT_US_2023_03_01:255012009 UMLS_CUI:C0346373 malignant melanoma of iris melanoma of the Iris disease_ontology DOID:6994 malignant iris melanoma DOID:6994 metastasis to kidney metastatic neoplasm to the kidney secondary malignant neoplasm of kidney secondary malignant neoplasm of kidney (disorder) disease_ontology DOID:6995 obsolete metastasis to the kidney true DOID:6995 NCI:C6100 UMLS_CUI:C1334208 mixed cell melanoma of Choroid disease_ontology DOID:6996 intermediate cell type choroid melanoma DOID:6996 NCI:C6118 UMLS_CUI:C1334209 disease_ontology DOID:6997 intermediate cell type ciliary body melanoma DOID:6997 NCI:C5744 UMLS_CUI:C1333750 Colloidal carcinoma of the gallbladder disease_ontology DOID:6998 gallbladder mucinous carcinoma DOID:6998 recurrent squamous cell carcinoma of the lung disease_ontology recurrent squamous cell carcinoma of lung DOID:6999 obsolete lung recurrent squamous cell carcinoma true DOID:6999 A disease that manifests in a defined anatomical structure. DOID:1 DOID:2 DOID:5 DOID:71 DOID:72 DOID:8 disease_ontology DOID:7 disease of anatomical entity DOID:7 A disease that manifests in a defined anatomical structure. url:https://www.merriam-webster.com/medical/anatomic disease_ontology DOID:70 obsolete lymphoid tissue disease true DOID:70 An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. GARD:7048 MESH:D028361 SNOMEDCT_US_2023_03_01:240096000 UMLS_CUI:C0751651 disease_ontology DOID:700 mitochondrial metabolism disease DOID:700 An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. url:http://en.wikipedia.org/wiki/Mitochondrial_disease relapsed large cell carcinoma of the lung disease_ontology DOID:7001 obsolete recurrent large cell carcinoma of lung true DOID:7001 lung Adenocarcinoma, recurrent disease_ontology DOID:7002 obsolete recurrent adenocarcinoma of lung true DOID:7002 disease_ontology DOID:7003 obsolete malignant vaginal mixed tumor resembling synovial sarcoma true DOID:7003 A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. GARD:12867 MESH:D049913 MIM:219090 NCI:C7462 SNOMEDCT_US_2023_03_01:254958004 UMLS_CUI:C1306214 ACTH-Producing Pituitary Adenoma Corticotroph adenoma Corticotropinoma disease_ontology DOID:7004 OMIM mapping confirmed by DO. [SN]. ACTH-secreting pituitary adenoma MESH:D049913 DOID:7004 A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. url:http://en.wikipedia.org/wiki/Cushing%27s_syndrome ICDO:9411/3 MESH:D001254 NCI:C4321 SNOMEDCT_US_2023_03_01:73982001 UMLS_CUI:C0334581 Gemistocytic Astrocytic tumor disease_ontology DOID:7005 gemistocytic astrocytoma DOID:7005 disease_ontology DOID:7006 obsolete childhood cerebral diffuse astrocytoma true DOID:7006 MESH:D001254 NCI:C4347 UMLS_CUI:C0338070 pediatric astrocytoma of Cerebrum disease_ontology DOID:7007 childhood cerebral astrocytoma DOID:7007 ICDO:9410/3 MESH:D001254 NCI:C4320 SNOMEDCT_US_2023_03_01:55094006 UMLS_CUI:C0334580 Protoplasmic Astrocytic tumor disease_ontology DOID:7008 protoplasmic astrocytoma DOID:7008 disease_ontology DOID:7009 obsolete adult diffuse astrocytoma true DOID:7009 A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. ICD10CM:K00.5 MESH:D003805 MIM:125400 MIM:125420 ORDO:1635 SNOMEDCT_US_2023_03_01:109492001 UMLS_CUI:C0011430 Dentinal dysplasia disease_ontology DOID:701 Xref MGI. OMIM mapping confirmed by DO. [SN]. dentin dysplasia DOID:701 A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. url:http://en.wikipedia.org/wiki/Dentin_dysplasia relapsed cancer of the Thyroid disease_ontology DOID:7011 obsolete recurrent thyroid carcinoma true DOID:7011 anaplastic thyroid carcinoma (disorder) sarcomatoid Thyroid carcinoma disease_ontology DOID:7012 obsolete anaplastic thyroid carcinoma true DOID:7012 An ovarian mucinous adenofibroma that is characterized by the presence of cysts or cystic spaces. NCI:C40041 UMLS_CUI:C1518725 disease_ontology DOID:7013 ovarian mucinous cystadenofibroma DOID:7013 An ovarian mucinous adenofibroma that is characterized by the presence of cysts or cystic spaces. url:https://www.ncbi.nlm.nih.gov/pubmed/24772358 NCI:C7450 SNOMEDCT_US_2023_03_01:24045002 UMLS_CUI:C0334473 intramuscular lipoma disease_ontology DOID:7014 infiltrating lipoma DOID:7014 Deep Fatty tumor disease_ontology DOID:7015 obsolete deep fatty neoplasm true DOID:7015 A synovium neoplasm that is located_in the tendon sheath. NCI:C6499 UMLS_CUI:C1336703 Lipoma of the Tendon Sheath disease_ontology DOID:7016 tendon sheath lipoma DOID:7016 A synovium neoplasm that is located_in the tendon sheath. url:https://www.ncbi.nlm.nih.gov/pubmed/26665243 NCI:C6500 UMLS_CUI:C1334438 disease_ontology DOID:7017 lumbosacral lipoma DOID:7017 metastatic tumor to the adult brain disease_ontology DOID:7018 obsolete secondary malignant neoplasm to the adult brain true DOID:7018 Congenital anomaly of teeth (disorder) congenital dentition disorder disease_ontology DOID:702 obsolete tooth abnormality true DOID:702 disease_ontology DOID:7023 obsolete borderline ovarian serous neoplasm with microinvasion true DOID:7023 NCI:C41618 UMLS_CUI:C1513718 disease_ontology DOID:7024 mucinous intrahepatic cholangiocarcinoma DOID:7024 disease_ontology DOID:7025 obsolete anaplastic malignant intracranial meningioma true DOID:7025 WHO grade III meningioma adult anaplastic (malignant) meningioma disease_ontology DOID:7026 obsolete adult malignant meningioma true DOID:7026 disease_ontology DOID:7029 obsolete site specific early onset breast cancer syndrome true DOID:7029 NCI:C5664 SNOMEDCT_US_2023_03_01:838297005 UMLS_CUI:C1332640 adenoma of the Bronchial Mucus gland disease_ontology adenoma of bronchial mucus gland DOID:7030 bronchial mucus gland adenoma DOID:7030 A squamous cell carcinoma that is located_in the glottis. NCI:C8186 UMLS_CUI:C0280325 Epidermoid carcinoma of the Glottis disease_ontology squamous cell carcinoma of glottis DOID:7031 glottis squamous cell carcinoma DOID:7031 A squamous cell carcinoma that is located_in the glottis. url:https://www.ncbi.nlm.nih.gov/pubmed/24760498 A clear cell adenocarcinoma that is located_in the bile duct. NCI:C5775 UMLS_CUI:C0861855 bile duct clear cell carcinoma disease_ontology DOID:7032 bile duct clear cell adenocarcinoma DOID:7032 A clear cell adenocarcinoma that is located_in the bile duct. url:https://www.ncbi.nlm.nih.gov/pubmed/19144165 A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung. GARD:693 ICD10CM:B81.0 ICD9CM:127.1 MESH:D017129 NCI:C128393 SNOMEDCT_US_2023_03_01:442652006 UMLS_CUI:C0162576 Infection by Anisakis larva disease_ontology DOID:7033 anisakiasis MESH:D017129 DOID:7033 A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung. url:http://www.dpd.cdc.gov/DPDx/HTML/Anisakiasis.htm url:http://www.merck.com/mmpe/sec14/ch182/ch182c.html?qt=Anisakiasis&alt=sh url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC358121/pdf/cmr00053-0060.pdf An immature teratoma of overy that presents in childhood. NCI:C6547 UMLS_CUI:C1332990 pediatric Immature teratoma of Ovary disease_ontology DOID:7037 childhood immature teratoma of ovary DOID:7037 An immature teratoma of overy that presents in childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/3983017 SNOMEDCT_US_2023_03_01:403886007 UMLS_CUI:C0334260 Bowen's disease, clonal Intraepidermal Epithelioma of Jadassohn disease_ontology DOID:7039 Borst-Jadassohn intraepidermal carcinoma DOID:7039 NCI:C35780 UMLS_CUI:C1333422 disease_ontology DOID:7040 uveal epithelioid cell melanoma DOID:7040 NCI:C6102 UMLS_CUI:C1333024 Choroidal epithelioid cell melanoma disease_ontology DOID:7041 choroid epithelioid cell melanoma DOID:7041 NCI:C6119 UMLS_CUI:C1333050 disease_ontology DOID:7042 ciliary body epithelioid cell melanoma DOID:7042 metastatic Vulvar carcinoma disease_ontology DOID:7043 obsolete metastatic vulvar cancer true DOID:7043 NCI:C7266 UMLS_CUI:C1332463 disease_ontology DOID:7045 basaloid lung carcinoma DOID:7045 A cervical squamous cell carcinoma that is characterized by nests of immature, basal-type squamous cells with scanty cytoplasm. NCI:C40189 UMLS_CUI:C1511063 disease_ontology DOID:7046 cervical basaloid squamous cell carcinoma DOID:7046 A cervical squamous cell carcinoma that is characterized by nests of immature, basal-type squamous cells with scanty cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/30695899 url:https://www.ncbi.nlm.nih.gov/pubmed/31393622 NCI:C6980 UMLS_CUI:C1332462 squamous cell carcinoma of penis, Basaloid type disease_ontology DOID:7047 penis basaloid carcinoma DOID:7047 A vulva squamous cell carcinoma that is composed of nests of immature, basal-type squamous cells with scanty cytoplasm. NCI:C40286 vulvar basaloid carcinoma disease_ontology DOID:7048 vulvar basaloid squamous cell carcinoma DOID:7048 A vulva squamous cell carcinoma that is composed of nests of immature, basal-type squamous cells with scanty cytoplasm. url:https://www.hindawi.com/journals/jsc/2011/951250/ NCI:C27543 UMLS_CUI:C1335973 skin Basaloid squamous cell carcinoma disease_ontology DOID:7049 basaloid squamous cell skin carcinoma DOID:7049 GARD:6870 ICD10CM:H47.22 MESH:D029242 MIM:535000 NCI:C84808 SNOMEDCT_US_2023_03_01:194045006 UMLS_CUI:C0917796 Leber's hereditary optic neuropathy Leber's optic atrophy disease_ontology DOID:705 OMIM mapping confirmed by DO. [SN]. Leber hereditary optic neuropathy DOID:705 NCI:C6456 UMLS_CUI:C1332464 Basaloid carcinoma of the Thymus disease_ontology DOID:7050 thymus basaloid carcinoma DOID:7050 NCI:C7032 UMLS_CUI:C1333443 Basaloid squamous carcinoma of esophagus disease_ontology DOID:7051 esophageal basaloid squamous cell carcinoma DOID:7051 Undifferentiated small cell carcinoma of the Thyroid gland disease_ontology DOID:7053 obsolete anaplastic small cell thyroid carcinoma true DOID:7053 NCI:C5279 UMLS_CUI:C1334829 disease_ontology DOID:7054 multiple skull base meningioma DOID:7054 EFO:0000096 NCI:C27910 UMLS_CUI:C1334633 mature B-cell lymphocytic neoplasm disease_ontology DOID:706 mature B-cell neoplasm DOID:706 A precursor lymphoblastic lymphoma/leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. disease_ontology DOID:7061 obsolete precursor B lymphoblastic lymphoma/leukemia true DOID:7061 A precursor lymphoblastic lymphoma/leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. url:https://en.wikipedia.org/wiki/Precursor_B-cell_lymphoblastic_leukemia A non-Hodgkin lymphoma that has_material_basis_in B cells. GARD:5877 MESH:D016393 NCI:C3457 SNOMEDCT_US_2023_03_01:109979007 UMLS_CUI:C0079731 B-cell lymphocytic neoplasm disease_ontology DOID:707 B-cell lymphoma DOID:707 A non-Hodgkin lymphoma that has_material_basis_in B cells. url:http://en.wikipedia.org/wiki/B-cell_lymphoma relapsed pediatric Rhabdomyosarcoma disease_ontology DOID:7070 obsolete recurrent pediatric rhabdomyosarcoma true DOID:7070 A dermoid cyst that is located_in the spinal cord. NCI:C6808 SNOMEDCT_US_2023_03_01:830015009 UMLS_CUI:C1333278 Spinal Cord Dermoid disease_ontology DOID:7071 spinal cord dermoid cyst DOID:7071 A dermoid cyst that is located_in the spinal cord. url:https://www.ncbi.nlm.nih.gov/pubmed/23772254 Choroidal hemorrhage and rupture (disorder) Choroidal hemorrhage or rupture NOS (disorder) disease_ontology DOID:7074 obsolete choroidal hemorrhage and rupture true DOID:7074 disease_ontology DOID:7075 obsolete atypical vulvar nevus true DOID:7075 A lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells. ICDO:8314/3 NCI:C40365 UMLS_CUI:C1517894 lipid-rich breast carcinoma disease_ontology DOID:7076 breast lipid-rich carcinoma DOID:7076 A lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40365 NCI:C6630 UMLS_CUI:C1334600 mediastinal melanocytic MPNST disease_ontology DOID:7077 malignant melanocytic peripheral nerve sheath tumor of mediastinum DOID:7077 MPNST of mediastinum disease_ontology DOID:7078 obsolete malignant mediastinal peripheral nerve sheath tumor true DOID:7078 A cystic teratoma that is present in an adult. NCI:C9012 SNOMEDCT_US_2023_03_01:42717009 UMLS_CUI:C1368888 disease_ontology DOID:7079 adult cystic teratoma DOID:7079 A cystic teratoma that is present in an adult. url:https://www.ncbi.nlm.nih.gov/pubmed/27038684 DOID:7080 NCI:C9423 UMLS_CUI:C1334788 combined small and large cell lung cancer small cell and large cell carcinoma of the lung small cell and squamous cell carcinoma of the lung disease_ontology mixed small cell and squamous cell carcinoma of lung DOID:7081 lung mixed small cell and squamous cell carcinoma DOID:7081 disease_ontology DOID:7083 obsolete recurrent adult primary hepatoma true DOID:7083 relapsed adult Liver cancer disease_ontology DOID:7084 obsolete recurrent adult primary liver cancer true DOID:7084 A papillary thyroid carcinoma arising in the thyroid gland from multiple foci. NCI:C37304 UMLS_CUI:C1334817 Multifocal papillary thyroid carcinoma (PTC) disease_ontology DOID:7086 multicentric papillary thyroid carcinoma DOID:7086 A papillary thyroid carcinoma arising in the thyroid gland from multiple foci. url:https://pubmed.ncbi.nlm.nih.gov/30884463/ A papillary thyroid carcinoma that is characterized by the presence of pseudostratified malignant follicular cells. ICDO:8344/3 NCI:C35830 UMLS_CUI:C1333120 Columnar cell PTC Columnar cell variant (CCV) columnar cell variant papillary carcinoma disease_ontology DOID:7088 columnar cell papillary thyroid carcinoma DOID:7088 A papillary thyroid carcinoma that is characterized by the presence of pseudostratified malignant follicular cells. url:https://pubmed.ncbi.nlm.nih.gov/33783022/ A papillary thyroid carcinoma that is characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. NCI:C35558 UMLS_CUI:C1336695 Tall Cell Variant Thyroid Gland Papillary Carcinoma Tall cell PTC tall cell variant papillary carcinoma disease_ontology DOID:7089 tall cell papillary thyroid carcinoma DOID:7089 A papillary thyroid carcinoma that is characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. url:https://pubmed.ncbi.nlm.nih.gov/32701516/ DOID:10265 ICD9CM:202.47 NCI:C7301 SNOMEDCT_US_2023_03_01:93151007 UMLS_CUI:C0153832 UMLS_CUI:C1336064 hairy cell leukaemia of spleen hairy cell leukemia of spleen splenic manifestation of hairy cell leukaemia disease_ontology DOID:709 splenic manifestation of hairy cell leukemia DOID:709 NCI:C8095 UMLS_CUI:C0279989 pediatric epithelioid sarcoma disease_ontology DOID:7095 childhood epithelioid sarcoma DOID:7095 NCI:C39924 UMLS_CUI:C1515307 disease_ontology DOID:7097 macrocystic pattern testicular yolk sac tumor DOID:7097 disease_ontology DOID:7099 obsolete ovarian dermoid cyst with squamous cell carcinoma true DOID:7099 A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia. NCI:C7296 UMLS_CUI:C1336065 disease_ontology splenic leukemia DOID:710 splenic manifestation of leukemia DOID:710 A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1492871/ NCI:C5283 UMLS_CUI:C1333283 meningioma of Diaphragm Sellae disease_ontology DOID:7103 diaphragma sellae meningioma DOID:7103 NCI:C4933 SNOMEDCT_US_2023_03_01:126699008 UMLS_CUI:C1290353 Epiglottic tumor neoplasm of epiglottis disease_ontology DOID:7105 epiglottis neoplasm DOID:7105 A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment. ICD10CM:C91.42 NCI:C142882 UMLS_CUI:C0279780 disease_ontology DOID:711 refractory hairy cell leukemia DOID:711 A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment. url:http://en.wikipedia.org/wiki/Hairy_cell_leukemia url:http://www.medterms.com/script/main/art.asp?articlekey=5274 A hematologic cancer that is located in the blood or bone marrow that doesn't respond to treatment. NCI:C27357 UMLS_CUI:C1335724 disease_ontology DOID:712 refractory hematologic cancer DOID:712 A hematologic cancer that is located in the blood or bone marrow that doesn't respond to treatment. url:http://www.cancer.gov/dictionary/?CdrID=45708 url:http://www.cancer.gov/templates/db_alpha.aspx?CdrID=45863 ICD10CM:N30.4 ICD9CM:595.82 NCI:C123174 SNOMEDCT_US_2023_03_01:11251000 UMLS_CUI:C0156270 Irradiation cystitis disease_ontology DOID:7127 radiation cystitis DOID:7127 NCI:C7401 SNOMEDCT_US_2023_03_01:54087003 UMLS_CUI:C0349633 Hairy cell leukaemia variant Hairy cell leukemia variant disease_ontology DOID:713 HCL-V DOID:713 NCI:C9461 SNOMEDCT_US_2023_03_01:718604008 UMLS_CUI:C1332564 small cell/neuroendocrine carcinoma of urinary bladder disease_ontology small cell neuroendocrine carcinoma of the urinary bladder DOID:7132 urinary bladder small cell neuroendocrine carcinoma DOID:7132 NCI:C6763 UMLS_CUI:C1333759 Oat cell carcinoma of the gallbladder disease_ontology DOID:7133 gallbladder small cell carcinoma DOID:7133 NCI:C6762 UMLS_CUI:C1112474 Oat cell carcinoma of esophagus Oat cell carcinoma of oesophagus oesophagus small cell carcinoma disease_ontology DOID:7134 esophagus small cell carcinoma DOID:7134 NCI:C6655 UMLS_CUI:C1332250 ampullary small cell carcinoma disease_ontology DOID:7136 ampulla of Vater small cell carcinoma DOID:7136 A cysititis that is characterized by hyperplasia of bladder submucosa and cyst formation caused by chronic irritation of the bladder. ICD9CM:595.81 NCI:C96230 SNOMEDCT_US_2023_03_01:13285005 UMLS_CUI:C0152262 disease_ontology DOID:7138 cystitis cystica DOID:7138 A cysititis that is characterized by hyperplasia of bladder submucosa and cyst formation caused by chronic irritation of the bladder. url:https://www.ncbi.nlm.nih.gov/pubmed/28466074 url:https://www.ncbi.nlm.nih.gov/pubmed/29552345 An small cell carcinoma that has_material_basis_in small cells and located_in the endometrium. NCI:C40155 UMLS_CUI:C1516858 disease_ontology DOID:7139 endometrial small cell carcinoma DOID:7139 An small cell carcinoma that has_material_basis_in small cells and located_in the endometrium. url:https://www.ncbi.nlm.nih.gov/pubmed/24615329 A small cell carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells and located_in Bartholin's gland. NCI:C40298 UMLS_CUI:C1511051 Bartholin gland small cell carcinoma disease_ontology DOID:7140 Bartholin's gland small cell carcinoma DOID:7140 A small cell carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells and located_in Bartholin's gland. url:https://en.wikipedia.org/wiki/Adenocarcinoma SNOMEDCT_US_2023_03_01:396198006 UMLS_CUI:C1300585 prostate Oat cell carcinoma small cell carcinoma of prostate disease_ontology DOID:7141 prostate small cell carcinoma DOID:7141 NCI:C6460 UMLS_CUI:C1335980 small cell carcinoma of the Thymus disease_ontology DOID:7142 thymus small cell carcinoma DOID:7142 NCI:C6025 UMLS_CUI:C1334378 small cell carcinoma of Larynx disease_ontology DOID:7144 laryngeal small cell carcinoma DOID:7144 Papillary cystic neoplasm Papillary cystic tumour solid pseudopapillary tumour disease_ontology DOID:7145 obsolete papillary cystic tumor true DOID:7145 A histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones. GARD:10491 ICD10CM:C96.4 ICDO:9756/3 MESH:D054752 NCI:C6921 ORDO:86897 SNOMEDCT_US_2023_03_01:724649000 UMLS_CUI:C1260327 disease_ontology DOID:7146 Langerhans cell sarcoma MESH:D054752 DOID:7146 A histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones. url:http://en.wikipedia.org/wiki/Langerhans_cell_sarcoma url:https://pubmed.ncbi.nlm.nih.gov/25805533/ An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage. EFO:0003898 GARD:9518 ICD10CM:M45 ICD9CM:720.0 MESH:D013167 MIM:PS106300 NCI:C84564 ORDO:825 SNOMEDCT_US_2023_03_01:156619005 UMLS_CUI:C0038013 Bekhterev syndrome Bekhterev's disease Marie-Strumpell disease disease_ontology DOID:7147 ankylosing spondylitis DOID:7147 An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage. url:http://en.wikipedia.org/wiki/Ankylosing_spondylitis url:http://www.mayoclinic.com/health/ankylosing-spondylitis/DS00483 url:http://www.nlm.nih.gov/medlineplus/ency/article/000420.htm url:http://www.spondylitis.org/about/as.aspx ls:IEDB An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. EFO:0000685 ICD10CM:M06.9 ICD9CM:714.0 KEGG:05323 MESH:D001172 MIM:180300 NCI:C2884 SNOMEDCT_US_2023_03_01:156471009 UMLS_CUI:C0003873 Arthritis or polyarthritis, rheumatic atrophic Arthritis disease_ontology DOID:7148 OMIM mapping confirmed by DO. [SN]. rheumatoid arthritis DOID:7148 An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. url:http://en.wikipedia.org/wiki/Rheumatoid_arthritis url:http://www.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/home/ovc-20197388 url:http://www.nlm.nih.gov/medlineplus/ency/article/000431.htm url:https://www.merriam-webster.com/dictionary/rheumatoid%20arthritis#medicalDictionary metastatic Parathyroid carcinoma disease_ontology DOID:7149 obsolete metastatic parathyroid cancer true DOID:7149 disease_ontology DOID:715 obsolete T-cell lymphoblastic leukemia/lymphoma true DOID:715 recurrent Parathyroid carcinoma disease_ontology DOID:7150 obsolete recurrent parathyroid cancer true DOID:7150 A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate. NCI:C5524 UMLS_CUI:C1335521 Stromal sarcoma of the prostate disease_ontology DOID:7152 prostate stromal sarcoma DOID:7152 A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate. url:http://www.pathologyoutlines.com/topic/prostatestromalsarcoma.html An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity). NCI:C4326 disease_ontology DOID:7154 anaplastic oligodendroglioma DOID:7154 An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity). url:https://en.wikipedia.org/wiki/Anaplastic_oligodendroglioma url:https://my.clevelandclinic.org/health/diseases/21191-oligodendroglioma url:https://www.cancer.gov/rare-brain-spine-tumor/tumors/oligodendroglioma disease_ontology DOID:7155 obsolete adult undifferentiated oligodendroglioma true DOID:7155 Undifferentiated pediatric Oligodendroglioma disease_ontology DOID:7156 obsolete anaplastic childhood oligodendroglioma true DOID:7156 squamous cell carcinoma metastatic to the neck with Occult primary disease_ontology DOID:7157 obsolete metastatic squamous neck cancer with occult primary true DOID:7157 relapsed metastatic Epidermoid carcinoma to the neck with Occult primary disease_ontology DOID:7158 obsolete recurrent metastatic squamous cell cancer to the neck with occult primary true DOID:7158 A viral infectious disease that affects CD8 lymphocytes, has_material_basis_in Human T-lymphotropic virus 2, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-2 develop neurologic diseases resembling tropical spastic paraparesis. HTLV-II infectious disease disease_ontology DOID:716 obsolete Human T-lymphotropic virus 2 infectious disease true DOID:716 A viral infectious disease that affects CD8 lymphocytes, has_material_basis_in Human T-lymphotropic virus 2, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The person infected with HTLV-2 develop neurologic diseases resembling tropical spastic paraparesis. url:http://onlinelibrary.wiley.com/doi/10.1002/ana.20126/pdf A rectal benign neoplasm that has_material_basis_in smooth muscle tissue. NCI:C5552 UMLS_CUI:C1335682 leiomyoma of rectum rectum leiomyoma disease_ontology DOID:7160 rectal leiomyoma DOID:7160 A rectal benign neoplasm that has_material_basis_in smooth muscle tissue. url:https://pubmed.ncbi.nlm.nih.gov/29657702 relapsed carcinoma of the Larynx disease_ontology DOID:7162 obsolete recurrent larynx cancer true DOID:7162 Mature teratoma of mediastinum disease_ontology DOID:7164 obsolete mediastinum mature teratoma true DOID:7164 ICD10CM:E06.1 ICD9CM:245.1 MESH:D013968 NCI:C35071 SNOMEDCT_US_2023_03_01:154666006 UMLS_CUI:C0040149 De Quervain's thyroiditis Giant-cell thyroiditis Granulomatous thyroiditis Subacute Granulomatous Thyroiditis disease_ontology DOID:7165 subacute thyroiditis DOID:7165 ICD10CM:E06 ICD9CM:245 MESH:D013966 NCI:C26894 SNOMEDCT_US_2023_03_01:154664009 UMLS_CUI:C0040147 disease_ontology DOID:7166 Updating to more specific UMLS_CUI from C0029495 to C0040147. thyroiditis DOID:7166 NCI:C6699 UMLS_CUI:C1335096 Occult adenocarcinoma of the lung disease_ontology occult adenocarcinoma of lung DOID:7168 lung occult adenocarcinoma DOID:7168 NCI:C6685 UMLS_CUI:C1335095 Occult large cell carcinoma of the lung disease_ontology DOID:7169 lung occult large cell carcinoma DOID:7169 disease_ontology DOID:7170 obsolete recurrent non-cutaneous melanoma true DOID:7170 recurrent malignant melanoma recurrent melanoma of skin disease_ontology DOID:7171 obsolete recurrent cutaneous melanoma true DOID:7171 ICDO:8124/3 NCI:C8255 SNOMEDCT_US_2023_03_01:84570003 UMLS_CUI:C0334273 Cloacogenic anal carcinoma disease_ontology DOID:7173 OMIM mapping confirmed by DO. [SN]. cloacogenic carcinoma DOID:7173 NCI:C8256 UMLS_CUI:C0280470 anal Basaloid carcinoma disease_ontology basaloid carcinoma of the anus DOID:7174 anus basaloid carcinoma DOID:7174 NCI:C7470 UMLS_CUI:C1332278 anal Giant (malignant) Condyloma disease_ontology DOID:7175 anal Buschke-Lowenstein tumor DOID:7175 An anal canal cancer that derives_from epithelial squamous cells. NCI:C7469 UMLS_CUI:C1332262 disease_ontology DOID:7177 anal canal squamous cell carcinoma DOID:7177 An anal canal cancer that derives_from epithelial squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma NCI:C4148 SNOMEDCT_US_2023_03_01:48619006 UMLS_CUI:C0334312 mixed acidophil-basophil adenoma disease_ontology DOID:7179 mixed eosinophil-basophil adenoma DOID:7179 A hemolytic anemia that is characterized by deficient red blood cells caused by auto-antibodies. GARD:5870 ICD9CM:283.0 MESH:D000744 MIM:205700 NCI:C34378 SNOMEDCT_US_2023_03_01:25121006 UMLS_CUI:C0002880 Autoimmune haemolytic anaemia autoimmune hemolytic anaemia disease_ontology DOID:718 OMIM mapping confirmed by DO. [SN]. autoimmune hemolytic anemia DOID:718 A hemolytic anemia that is characterized by deficient red blood cells caused by auto-antibodies. url:http://en.wikipedia.org/wiki/Autoimmune_hemolytic_anemia sn:IEDB NCI:C5569 UMLS_CUI:C1332490 benign Schwannoma of the skin disease_ontology DOID:7181 benign dermal neurilemmoma DOID:7181 metastatic pediatric sarcoma of the soft tissue disease_ontology DOID:7186 obsolete metastatic childhood sarcoma of soft tissue true DOID:7186 NCI:C35829 SNOMEDCT_US_2023_03_01:361126006 UMLS_CUI:C1306804 disease_ontology DOID:7187 subacute lymphocytic thyroiditis DOID:7187 An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues. DOID:0050435 ICD10CM:E06.3 MESH:D013967 NCI:C38766 SNOMEDCT_US_2023_03_01:190297000 UMLS_CUI:C0920350 Chronic Lymphocytic Thyroiditis Hashimoto thyroiditis Hashimoto's Disease Hashimoto's syndrome Hashimoto's thyroiditis Lymphocytic Thyroiditis disease_ontology DOID:7188 OMIM mapping confirmed by DO. [SN]. autoimmune thyroiditis DOID:7188 An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues. url:https://en.wikipedia.org/wiki/Autoimmune_thyroiditis sn:IEDB An ovarian cystadenoma that is characterized by the presence of endometrial tissue. NCI:C40075 UMLS_CUI:C1518713 disease_ontology DOID:7191 ovarian endometrioid cystadenoma DOID:7191 An ovarian cystadenoma that is characterized by the presence of endometrial tissue. url:https://pubmed.ncbi.nlm.nih.gov/30725635/ NCI:C36260 SNOMEDCT_US_2023_03_01:764961009 UMLS_CUI:C1333985 disease_ontology DOID:7192 hereditary conventional renal cell carcinoma DOID:7192 NCI:C6239 UMLS_CUI:C1334643 adenoid cystic carcinoma of the maxillary sinus disease_ontology adenoid cystic carcinoma of maxillary sinus DOID:7198 maxillary sinus adenoid cystic carcinoma DOID:7198 An anemia that is characterized by circulating red blood cells that are the same size and have a normal red color and a mean corpuscular volume (MCV) between 80 and 100 fL. NCI:C35142 SNOMEDCT_US_2023_03_01:300980002 UMLS_CUI:C0085577 ANEMIA NORMOCYTIC Normocytic normochromic anemia disease_ontology DOID:720 normocytic anemia DOID:720 An anemia that is characterized by circulating red blood cells that are the same size and have a normal red color and a mean corpuscular volume (MCV) between 80 and 100 fL. url:https://www.ncbi.nlm.nih.gov/books/NBK565880 A malignant teratoma characterized by the presence of an intermediate amount of undifferentiated tissues. NCI:C4288 SNOMEDCT_US_2023_03_01:21912003 UMLS_CUI:C0334522 Intermediate Immature teratoma malignant teratoma, intermediate disease_ontology DOID:7202 intermediate malignant teratoma DOID:7202 A malignant teratoma characterized by the presence of an intermediate amount of undifferentiated tissues. url:http://codes.iarc.fr/code/3630 NCI:C9499 UMLS_CUI:C1334691 disease_ontology DOID:7206 melanomatosis DOID:7206 NCI:C7267 UMLS_CUI:C1333122 pulmonary Combined large cell neuroendocrine carcinoma disease_ontology combined large cell neuroendocrine carcinoma of lung DOID:7207 lung combined large cell neuroendocrine carcinoma DOID:7207 ICDO:9533/0 MESH:D008579 NCI:C4331 SNOMEDCT_US_2023_03_01:38431002 UMLS_CUI:C0334607 disease_ontology DOID:7210 psammomatous meningioma DOID:7210 ICDO:9532/0 MESH:D008579 NCI:C4330 SNOMEDCT_US_2023_03_01:511008 UMLS_CUI:C0334606 Fibroblastic meningioma disease_ontology DOID:7211 fibrous meningioma DOID:7211 ICDO:9531/0 MESH:D008579 NCI:C4329 SNOMEDCT_US_2023_03_01:68944005 UMLS_CUI:C0334605 Meningotheliomatous meningioma disease_ontology DOID:7212 meningothelial meningioma DOID:7212 ICDO:9537/0 MESH:D008579 NCI:C4333 SNOMEDCT_US_2023_03_01:64967004 UMLS_CUI:C0334611 transitional (mixed) meningioma disease_ontology DOID:7213 transitional meningioma DOID:7213 NCI:C9080 UMLS_CUI:C0278847 Thymoma malignant Noninvasive disease_ontology DOID:7214 noninvasive malignant thymoma DOID:7214 relapsed pediatric Ependymoma disease_ontology DOID:7215 obsolete relapsed childhood ependymoma true DOID:7215 miscarriage disease_ontology DOID:722 obsolete spontaneous abortion true DOID:722 A papillary carcioma that is located_in the gallbladder. NCI:C5743 UMLS_CUI:C5399921 Papillary carcinoma of the gallbladder disease_ontology DOID:7221 gallbladder papillary carcinoma DOID:7221 A papillary carcioma that is located_in the gallbladder. url:https://www.ncbi.nlm.nih.gov/pubmed/15974814 Pleomorphic Giant cell adenocarcinoma of the gallbladder disease_ontology DOID:7222 gallbladder pleomorphic giant cell adenocarcinoma DOID:7222 A breast fibroadenoma that is larger than 5 cm. NCI:C4273 SNOMEDCT_US_2023_03_01:254846003 UMLS_CUI:C0346157 Giant Fibroadenoma Giant fibroadenoma of breast disease_ontology DOID:7223 breast giant fibroadenoma DOID:7223 A breast fibroadenoma that is larger than 5 cm. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596698/ ICD10CM:C70.1 ICD9CM:192.3 SNOMEDCT_US_2023_03_01:94069006 UMLS_CUI:C0153647 malignant neoplasm of spinal meninges disease_ontology DOID:7224 spinal meninges cancer DOID:7224 NCI:C37201 UMLS_CUI:C1333037 CLL/SLL with IGVH SHM disease_ontology DOID:7230 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma DOID:7230 A central nervous system childhood germ cell tumor characterized by germ cell tumor that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. NCI:C6208 UMLS_CUI:C1377605 Embryonal carcinoma of paediatric CNS Embryonal carcinoma of pediatric CNS paediatric CNS embryonal cell carcinoma pediatric CNS embryonal cell carcinoma disease_ontology DOID:7231 childhood CNS embryonal cell carcinoma DOID:7231 A central nervous system childhood germ cell tumor characterized by germ cell tumor that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. url:https://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq url:https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq NCI:C7010 UMLS_CUI:C1333377 Embryonal carcinoma of CNS disease_ontology embryonal carcinoma of the central nervous system DOID:7232 central nervous system embryonal carcinoma DOID:7232 A central nervous system adult germ cell tumor that develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells. NCI:C5790 UMLS_CUI:C1370503 Embryonal carcinoma of the adult central nervous system disease_ontology DOID:7233 adult central nervous system embryonal carcinoma DOID:7233 A central nervous system adult germ cell tumor that develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells. url:https://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq url:https://www.ncbi.nlm.nih.gov/pubmed/17997317 A pancreatic cystadenocarinoma that is characterized by histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. NCI:C5713 SNOMEDCT_US_2023_03_01:785879009 UMLS_CUI:C2063873 Pancreatic Mucinous Cystadenocarcinoma pancreatic colloid cystadenocarcinoma disease_ontology DOID:7234 mucinous cystadenocarcinoma of pancreas DOID:7234 A pancreatic cystadenocarinoma that is characterized by histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. url:https://www.ncbi.nlm.nih.gov/books/NBK448105/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959310/ NCI:C41247 UMLS_CUI:C1518872 pancreatic mucinous cystic neoplasm disease_ontology DOID:7235 pancreatic mucinous cystadenoma DOID:7235 NCI:C41246 UMLS_CUI:C1518870 disease_ontology DOID:7236 pancreatic invasive mucinous cystadenocarcinoma DOID:7236 NCI:C41245 SNOMEDCT_US_2023_03_01:128900005 UMLS_CUI:C1266078 disease_ontology DOID:7237 pancreatic non-invasive mucinous cystadenocarcinoma DOID:7237 An AIDS-related Kaposi's sarcoma and gastric Kaposi's sarcoma that is located_in the stomach. AIDS-Related Kaposi's sarcoma of stomach disease_ontology DOID:7238 obsolete AIDS-related gastric Kaposi's sarcoma true DOID:7238 An AIDS-related Kaposi's sarcoma and gastric Kaposi's sarcoma that is located_in the stomach. url:http://jco.ascopubs.org/cgi/content/short/28/16/e250 ICD9CM:625.6 NCI:C35042 SNOMEDCT_US_2023_03_01:60241006 UMLS_CUI:C0038437 Stress incontinence - female female urinary stress incontinence disease_ontology DOID:724 female stress incontinence DOID:724 An uterine corpus cellular leiomyoma that is characterized by stellate zones of recent hemorrhage within nodules of hypercellular smooth muscle. NCI:C40165 UMLS_CUI:C1519852 disease_ontology DOID:7241 uterine corpus apoplectic leiomyoma DOID:7241 An uterine corpus cellular leiomyoma that is characterized by stellate zones of recent hemorrhage within nodules of hypercellular smooth muscle. url:http://www.pathologyoutlines.com/topic/uterusleiomyomavariants.html An uterine benign neoplasm that derives_from smooth muscle cells and that is located_in the uterine corpus. NCI:C40163 UMLS_CUI:C1519845 disease_ontology DOID:7242 uterine corpus cellular leiomyoma DOID:7242 An uterine benign neoplasm that derives_from smooth muscle cells and that is located_in the uterine corpus. url:http://www.pathologyoutlines.com/topic/uterusleiomyomacellular.html url:https://www.ncbi.nlm.nih.gov/pubmed/25490906 NCI:C39844 UMLS_CUI:C1511207 disease_ontology DOID:7244 bladder urachal urothelial carcinoma DOID:7244 disease_ontology DOID:7245 obsolete metastatic endometrial adenocarcinoma true DOID:7245 NCI:C39885 UMLS_CUI:C1515864 lymphoepithelioma-like variant acinar prostate adenocarcinoma disease_ontology DOID:7246 lymphoepithelioma-like acinar prostate adenocarcinoma DOID:7246 malignant neoplasm of cerebral meninges (disorder) malignant neoplasm of cerebral meninges NOS (disorder) disease_ontology DOID:7252 obsolete cerebral meninges malignant neoplasm true DOID:7252 Undifferentiated carcinoma of the urethra disease_ontology DOID:7256 obsolete anaplastic urethra carcinoma true DOID:7256 Undifferentiated gallbladder carcinoma disease_ontology DOID:7262 obsolete gallbladder anaplastic carcinoma true DOID:7262 A selective immunoglobulin deficiency disease that is characterized by low serum levels of IgD immunoglobulins, but is associated with few clinical symptoms. NCI:C27144 SNOMEDCT_US_2023_03_01:234541006 UMLS_CUI:C0398695 Selective IgD Immunodeficiency Selective immunoglobulin D deficiency disease_ontology DOID:7263 selective IgD deficiency disease DOID:7263 A selective immunoglobulin deficiency disease that is characterized by low serum levels of IgD immunoglobulins, but is associated with few clinical symptoms. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27144 NCI:C40455 UMLS_CUI:C1512418 disease_ontology DOID:7266 familiar fallopian tube carcinoma DOID:7266 SNOMEDCT_US_2023_03_01:254630009 UMLS_CUI:C0345959 disease_ontology DOID:7267 lung clear cell carcinoma DOID:7267 pulmonary solid adenocarcinoma with Mucin disease_ontology DOID:7268 obsolete solid carcinoma of lung with mucus formation true DOID:7268 NCI:C40957 UMLS_CUI:C1515292 disease_ontology DOID:7269 cribriform variant testicular seminoma DOID:7269 ICD10CM:N94.3 ICD9CM:625.4 MESH:D011293 SNOMEDCT_US_2023_03_01:123076003 UMLS_CUI:C0376356 disease_ontology DOID:727 premenstrual tension DOID:727 disease_ontology DOID:7273 obsolete adrenal gland tuberculosis true DOID:7273 A scleral disease that is characterized by painful inflammation with surface nodule formation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular episcleritis is typically self-limited and may be caused by vascular congestion within the superficial episcleral plexus. ICD10CM:H15.12 ICD9CM:379.02 SNOMEDCT_US_2023_03_01:70558001 UMLS_CUI:C0155352 disease_ontology DOID:728 nodular episcleritis DOID:728 A scleral disease that is characterized by painful inflammation with surface nodule formation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular episcleritis is typically self-limited and may be caused by vascular congestion within the superficial episcleral plexus. url:https://eyewiki.aao.org/Episcleritis MESH:D005887 NCI:C4675 SNOMEDCT_US_2023_03_01:25511009 UMLS_CUI:C0376319 Congenital Epulides disease_ontology DOID:7280 congenital epulis DOID:7280 A uterine body mixed cancer that derives_from epithelial cells which originate in glandular tissue and connective tissue. disease_ontology DOID:7281 uterine corpus adenocarcinofibroma DOID:7281 A uterine body mixed cancer that derives_from epithelial cells which originate in glandular tissue and connective tissue. url:https://www.womenshealth.gov/a-z-topics/uterine-fibroids DOID:6722 NCI:C39863 NCI:C7371 UMLS_CUI:C1335352 UMLS_CUI:C1527427 carcinoma of the paraurethral gland paraurethral gland carcinoma disease_ontology DOID:7284 Skene gland carcinoma DOID:7284 An endometrial adenocarcinoma that is characterized by the presence of confluent, cribriform or villoglandular voluminous glands with glycogen, subnuclear vacuoles (resembles day 17 - 22 endometrium), plus late secretory pattern in uninvolved endometrium. NCI:C27839 SNOMEDCT_US_2023_03_01:128680006 UMLS_CUI:C1266057 secretory uterine corpus endometrioid adenocarcinoma disease_ontology DOID:7289 endometrial endometrioid adenocarcinoma, secretory variant DOID:7289 An endometrial adenocarcinoma that is characterized by the presence of confluent, cribriform or villoglandular voluminous glands with glycogen, subnuclear vacuoles (resembles day 17 - 22 endometrium), plus late secretory pattern in uninvolved endometrium. url:http://www.pathologyoutlines.com/topic/uterussecretory.html An endometrial adenocarcinoma that is characterized by the presence of abundant mucin. NCI:C8717 UMLS_CUI:C1513711 disease_ontology DOID:7293 mucin-rich endometrial endometrioid adenocarcinoma DOID:7293 An endometrial adenocarcinoma that is characterized by the presence of abundant mucin. url:https://pubmed.ncbi.nlm.nih.gov/28421274/ relapsed pediatric sarcoma of the soft tissue disease_ontology DOID:7295 obsolete recurrent childhood soft tissue sarcoma true DOID:7295 Non-metastatic pediatric soft tissue sarcoma disease_ontology DOID:7296 obsolete nonmetastatic childhood soft tissue sarcoma true DOID:7296 An extraosseous osteosarcoma that arises from the soft tissue and occurs during childhood. NCI:C27376 UMLS_CUI:C1332968 Childhood Extraskeletal Osteosarcoma pediatric extraskeletal Osteosarcoma disease_ontology DOID:7297 childhood extraosseous osteosarcoma DOID:7297 An extraosseous osteosarcoma that arises from the soft tissue and occurs during childhood. url:https://pubmed.ncbi.nlm.nih.gov/18214458/ MESH:D014523 NCI:C3428 SNOMEDCT_US_2023_03_01:126883004 UMLS_CUI:C0041971 neoplasm of urethra neoplasm. urethra disease_ontology DOID:730 urethral benign neoplasm DOID:730 leiomyosarcoma of the Inferior Vena Cava disease_ontology DOID:7301 obsolete inferior vena cava leiomyosarcoma true DOID:7301 NCI:C39927 UMLS_CUI:C1515303 disease_ontology DOID:7302 endodermal sinus pattern testicular yolk sac tumor DOID:7302 disease_ontology DOID:7304 obsolete breast carcinoma metastatic to the brain true DOID:7304 A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly. GARD:10635 ICDO:9430/3 MESH:D018302 NCI:C4324 SNOMEDCT_US_2023_03_01:48952003 UMLS_CUI:C0334587 disease_ontology DOID:7305 astroblastoma DOID:7305 A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly. url:https://www.futuremedicine.com/doi/full/10.2217/cns-2018-0012 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910607/ WHO grade III mixed glioma anaplastic oligoastrocytoma anaplastic oligoastrocytoma (morphologic abnormality) disease_ontology DOID:7306 obsolete anaplastic oligoastrocytoma true DOID:7306 An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. MESH:D014571 NCI:C3431 SNOMEDCT_US_2023_03_01:254913005 UMLS_CUI:C0042076 neoplasm of urinary system tumor of the urinary system tumor of urinary tract urinary tract neoplasm disease_ontology DOID:731 urinary system benign neoplasm DOID:731 An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. url:http://en.wikipedia.org/wiki/Urinary_system NCI:C40391 UMLS_CUI:C1511283 disease_ontology DOID:7312 breast adenomyoepithelial adenosis DOID:7312 NCI:C9368 UMLS_CUI:C1336362 stage IVB urinary bladder carcinoma disease_ontology Jewett-Marshall stage D1 bladder cancer Jewett-Marshall stage D2 bladder cancer DOID:7315 Jewett-Marshall bladder cancer DOID:7315 hereditary neuropathy disease_ontology DOID:7316 obsolete inherited neuropathy true DOID:7316 NCI:C27301 SNOMEDCT_US_2023_03_01:60703000 UMLS_CUI:C0270921 disease_ontology DOID:7319 axonal neuropathy DOID:7319 A urinary system disease that is located_in the urethra. ICD10CM:N36.9 MESH:D014522 NCI:C26903 SNOMEDCT_US_2023_03_01:4985009 UMLS_CUI:C0041969 urethra disease disease_ontology DOID:732 urethral disease DOID:732 A urinary system disease that is located_in the urethra. url:http://www.nlm.nih.gov/medlineplus/urethraldisorders.html An ovarian serous adenofibroma that is characterized by the presence of cysts or cystic spaces. NCI:C40032 UMLS_CUI:C0877572 disease_ontology DOID:7320 ovarian serous cystadenofibroma DOID:7320 An ovarian serous adenofibroma that is characterized by the presence of cysts or cystic spaces. url:https://en.wikipedia.org/wiki/Ovarian_serous_cystadenoma disease_ontology DOID:7323 obsolete primary cerebral lymphoma in immunocompetent host true DOID:7323 disease_ontology DOID:7324 obsolete hepatitis C virus related hepatocellular carcinoma true DOID:7324 disease_ontology DOID:7325 obsolete hepatitis B virus related hepatocellular carcinoma true DOID:7325 NCI:C27248 UMLS_CUI:C1333162 disease_ontology DOID:7326 cranial pseudosarcomatous fasciitis DOID:7326 ICD10CM:M72.4 NCI:C3827 SNOMEDCT_US_2023_03_01:268106003 UMLS_CUI:C0410005 Fasciitis - nodular Pseudosarcomatous Fasciitis nodular fasciitis disease_ontology DOID:7327 pseudosarcomatous fibromatosis DOID:7327 A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris. NCI:C6098 UMLS_CUI:C1334287 disease_ontology DOID:7328 iris spindle cell melanoma DOID:7328 A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris. url:http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5 A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss. ICD9CM:017.8 SNOMEDCT_US_2023_03_01:15284007 UMLS_CUI:C0152902 tuberculosis of esophagus disease_ontology DOID:7332 esophageal tuberculosis DOID:7332 A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss. url:http://www.springerlink.com/content/53763553187824h3/fulltext.pdf NCI:C7415 UMLS_CUI:C1336892 Nephrogenic adenoma of the urinary bladder disease_ontology DOID:7333 nephrogenic adenoma of urinary bladder DOID:7333 NCI:C97097 SNOMEDCT_US_2023_03_01:78236000 UMLS_CUI:C0334039 disease_ontology DOID:7334 nephrogenic adenoma DOID:7334 disease_ontology DOID:7335 obsolete extraocular extension of melanoma true DOID:7335 An urinary tract cancer that derives_from the tissues of the urethra. DOID:737 GARD:9390 ICD10CM:C68.0 ICD9CM:189.3 MESH:D014523 NCI:C7507 NCI:C9106 SNOMEDCT_US_2023_03_01:363459007 SNOMEDCT_US_2023_03_01:94123008 UMLS_CUI:C0153620 UMLS_CUI:C0700101 malignant tumour of urethra malignant urethral neoplasm urethral Ca disease_ontology cancer of urethra DOID:734 urethra cancer DOID:734 An urinary tract cancer that derives_from the tissues of the urethra. url:http://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient A childhood ovarian germ cell tumor that derives_from cells that give rise to egg cells. NCI:C6550 UMLS_CUI:C1332988 pediatric ovarian dysgerminoma disease_ontology DOID:7340 childhood ovarian dysgerminoma DOID:7340 A childhood ovarian germ cell tumor that derives_from cells that give rise to egg cells. url:http://en.wikipedia.org/wiki/Dysgerminoma url:http://www.cancer.gov/dictionary?CdrID=672835 disease_ontology DOID:7344 obsolete anaplastic brainstem astrocytoma true DOID:7344 Undifferentiated glioma of Brainstem disease_ontology DOID:7345 obsolete anaplastic glioma of brain stem true DOID:7345 An ovarian disease that is characterized by the presence of nests of luteinized theca cells scattered throughout the ovary, which results in severe hyperandrogenism and insulin resistance. Clinical symptoms involve slowly progressive acne, hirsutism, virilization. NCI:C40446 UMLS_CUI:C1518743 disease_ontology DOID:7347 ovarian stromal hyperthecosis DOID:7347 An ovarian disease that is characterized by the presence of nests of luteinized theca cells scattered throughout the ovary, which results in severe hyperandrogenism and insulin resistance. Clinical symptoms involve slowly progressive acne, hirsutism, virilization. url:https://en.wikipedia.org/wiki/Hyperthecosis urethra metastatic malignant neoplasm disease_ontology DOID:735 obsolete metastatic neoplasm of urethra true DOID:735 NCI:C27802 UMLS_CUI:C1331541 disease_ontology DOID:7350 thymic dysplasia DOID:7350 disease_ontology DOID:7351 obsolete localized Askin's tumor true DOID:7351 Undifferentiated astrocytoma of Diencephalon disease_ontology DOID:7352 obsolete diencephalic anaplastic astrocytoma true DOID:7352 NCI:C5556 UMLS_CUI:C1335689 sarcomatoid carcinoma of rectum disease_ontology DOID:7356 rectum sarcomatoid carcinoma DOID:7356 Undifferentiated carcinoma of rectum disease_ontology DOID:7357 obsolete rectal anaplastic carcinoma true DOID:7357 recurrent Rectal carcinoma disease_ontology DOID:7358 obsolete recurrent rectal cancer true DOID:7358 NCI:C39867 UMLS_CUI:C1518164 disease_ontology DOID:736 male urethral cancer DOID:736 NCI:C39925 UMLS_CUI:C1515312 disease_ontology DOID:7360 solid pattern testicular yolk sac tumor DOID:7360 teratoma of the central nervous system with malignant Transformation disease_ontology DOID:7362 obsolete teratoma of CNS with malignant transformation true DOID:7362 A vulva squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization. NCI:C40284 disease_ontology DOID:7363 vulvar keratinizing squamous cell carcinoma DOID:7363 A vulva squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization. url:https://www.ncbi.nlm.nih.gov/pubmed/16032717 disease_ontology DOID:7364 obsolete organic anxiety disorder true DOID:7364 GARD:6835 MESH:D000082242 NCI:C26867 SNOMEDCT_US_2023_03_01:399894006 UMLS_CUI:C0033838 Kimura's disease disease_ontology DOID:7365 Kimura disease DOID:7365 A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area. MESH:D000093284 NCI:C27474 SNOMEDCT_US_2023_03_01:425231005 UMLS_CUI:C1336527 Superficial urinary bladder carcinoma disease_ontology DOID:7371 superficial urinary bladder cancer DOID:7371 A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area. url:http://www.malecare.com/new_page_91.htm NCI:C27343 UMLS_CUI:C0948740 disease_ontology DOID:7378 pituitary hypoplasia DOID:7378 An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. NCI:C9276 UMLS_CUI:C1334717 disease_ontology DOID:7379 adrenal medulla carcinoma DOID:7379 An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma NCI:C39866 UMLS_CUI:C1517154 disease_ontology DOID:738 female urethral cancer DOID:738 NCI:C4462 SNOMEDCT_US_2023_03_01:254661000 UMLS_CUI:C0345983 Parakeratotic skin papilloma disease_ontology DOID:7380 squamous cell papilloma of skin DOID:7380 NCI:C27779 UMLS_CUI:C1334464 disease_ontology DOID:7381 lymphohistiocytoid mesothelioma DOID:7381 disease_ontology DOID:7384 obsolete localized resectable adult primary hepatoma true DOID:7384 localized Resectable adult Liver carcinoma disease_ontology DOID:7385 obsolete localized resectable adult primary liver cancer true DOID:7385 A leiomyosarcoma that is located_in the pulmonary vein. NCI:C5374 UMLS_CUI:C1335575 leiomyosarcoma of the pulmonary Vein disease_ontology DOID:7388 pulmonary vein leiomyosarcoma DOID:7388 A leiomyosarcoma that is located_in the pulmonary vein. url:https://www.ncbi.nlm.nih.gov/pubmed/11107057 A leiomyosarcoma that is located_in the pulmonary artery. NCI:C5373 UMLS_CUI:C1335572 leiomyosarcoma of the pulmonary artery disease_ontology DOID:7389 pulmonary artery leiomyosarcoma DOID:7389 A leiomyosarcoma that is located_in the pulmonary artery. url:https://www.ncbi.nlm.nih.gov/pubmed/22214627 metastatic neoplasm to the urethra secondary malignant neoplasm of urethra (disorder) disease_ontology DOID:739 obsolete metastasis to the urethra true DOID:739 A leiomyosarcoma that is located_in the superior vena cava. NCI:C6745 UMLS_CUI:C1336531 leiomyosarcoma of the Superior Vena Cava disease_ontology DOID:7390 superior vena cava leiomyosarcoma DOID:7390 A leiomyosarcoma that is located_in the superior vena cava. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2733032/ malignant tumor of Superior Vena Cava disease_ontology DOID:7391 obsolete superior vena cava malignant neoplasm true DOID:7391 MESH:D018242 NCI:C4970 UMLS_CUI:C0751675 PNET of Cerebrum disease_ontology DOID:7398 cerebral primitive neuroectodermal tumor DOID:7398 A disease of anatomical entity that has_material_basis_in hematopoietic cells. ICD10CM:D75.9 ICD9CM:289.9 MESH:D006402 NCI:C26323 SNOMEDCT_US_2023_03_01:154785002 UMLS_CUI:C0018939 Blood disease Blood dyscrasia DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS Hematological disease blood disorder disease of haematopoietic system disease of hematopoietic system haematopoietic system disease disease_ontology DOID:74 hematopoietic system disease DOID:74 A disease of anatomical entity that has_material_basis_in hematopoietic cells. url:http://en.wikipedia.org/wiki/Hematopathology url:https://www.ncbi.nlm.nih.gov/books/NBK1741/ A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3. GARD:3904 MESH:D049932 MIM:251260 NCI:C4692 ORDO:647 SNOMEDCT_US_2023_03_01:234638009 UMLS_CUI:C0398791 Berlin breakage syndrome Microcephaly, normal intelligence and immunodeficiency NBS Seemanova syndrome II Seemanova syndrome type 2 ataxia-telangiectasia variant immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly-immunodeficiency-lymphoreticuloma syndrome disease_ontology DOID:7400 OMIM mapping confirmed by DO. [SN]. Nijmegen breakage syndrome DOID:7400 A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3. url:https://www.ncbi.nlm.nih.gov/pubmed/3277755 url:https://www.ncbi.nlm.nih.gov/pubmed/9042920 NBS NCI:C27447 UMLS_CUI:C3274139 disease_ontology DOID:7401 colonic L-cell glucagon-like peptide producing tumor DOID:7401 NCI:C27448 UMLS_CUI:C3274140 disease_ontology DOID:7402 L-cell glucagon-like peptide producing tumor DOID:7402 secondary carcinoma to the Cervix Uteri disease_ontology DOID:7407 obsolete metastatic carcinoma to the uterine cervix true DOID:7407 A vulva squamous cell carcinoma that is rapidly growing, self-limited, and characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior. NCI:C128167 UMLS_CUI:C4288007 vulvar keratoacanthoma-like carcinoma disease_ontology DOID:7408 NCI retired concept, vulvar keratoacanthoma-like carcinoma. vulvar keratoacanthoma DOID:7408 A vulva squamous cell carcinoma that is rapidly growing, self-limited, and characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C40288 url:https://www.ncbi.nlm.nih.gov/pubmed/24719870 A vulva squamous cell carcinoma that is composed of polygonal squamous cells growing in sheets or nests that may have intercellular bridges, but keratin pearls are not present. NCI:C40285 UMLS_CUI:C1520092 disease_ontology DOID:7409 vulvar non-keratinizing squamous cell carcinoma DOID:7409 A vulva squamous cell carcinoma that is composed of polygonal squamous cells growing in sheets or nests that may have intercellular bridges, but keratin pearls are not present. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374790/ disease_ontology DOID:7410 obsolete vulvar squamous cell carcinoma with tumor giant cells true DOID:7410 An ovarian endometrioid adenofibroma that is characterized by the presence of cysts and/ or cystic spaces. NCI:C27288 UMLS_CUI:C1335158 disease_ontology DOID:7411 ovarian endometrioid cystadenofibroma DOID:7411 An ovarian endometrioid adenofibroma that is characterized by the presence of cysts and/ or cystic spaces. url:https://www.ncbi.nlm.nih.gov/pubmed/514560 Metaplastic meningioma disease_ontology DOID:7419 obsolete metaplastic meningioma true DOID:7419 Placental infarct Placental infarct (disorder) Placental infarction disease_ontology DOID:7420 obsolete placental infarction true DOID:7420 disease_ontology DOID:7423 obsolete ovarian mucinous cystic tumor with mural nodules true DOID:7423 An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center. GARD:8158 ICD10CM:A22.0 ICD9CM:022.0 MESH:C531621 SNOMEDCT_US_2023_03_01:84980006 UMLS_CUI:C0003177 disease_ontology DOID:7426 cutaneous anthrax DOID:7426 An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center. url:https://en.wikipedia.org/wiki/Anthrax#Skin A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. GARD:8157 ICD10CM:A22 ICD9CM:022 MESH:D000881 NCI:C84565 SNOMEDCT_US_2023_03_01:154295005 UMLS_CUI:C0003175 disease_ontology DOID:7427 anthrax disease DOID:7427 A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. url:https://en.wikipedia.org/wiki/Anthrax url:https://medlineplus.gov/ency/article/001325.htm url:https://www.cdc.gov/anthrax/basics/index.html url:https://wwwnc.cdc.gov/travel/yellowbook/2020/travel-related-infectious-diseases/anthrax NCI:C8712 UMLS_CUI:C0854912 disease_ontology DOID:7428 pineal region germinoma DOID:7428 A brain germinoma that is characterized by tumor of the germ cell in childhood that has_material_basis_in abnormally proliferating cells derives_from germ cells, located_in pineal area and located_in suprasellar area. NCI:C6207 UMLS_CUI:C1332948 germinoma of the pediatric brain disease_ontology DOID:7429 childhood brain germinoma DOID:7429 A brain germinoma that is characterized by tumor of the germ cell in childhood that has_material_basis_in abnormally proliferating cells derives_from germ cells, located_in pineal area and located_in suprasellar area. url:https://en.wikipedia.org/wiki/Germinoma A physical urticaria induced by stroking of the skin. ICD10CM:L50.3 ICD9CM:708.3 MIM:125635 NCI:C111885 SNOMEDCT_US_2023_03_01:201263000 UMLS_CUI:C0343065 dermatographic urticaria dermographism disease_ontology DOID:743 dermatographia DOID:743 A physical urticaria induced by stroking of the skin. url:http://en.wikipedia.org/wiki/Dermatographic_urticaria url:http://www.dermnetnz.org/reactions/urticaria.html A central nervous system childhood germ cell tumor that is characterized by germ cell tumor, that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. NCI:C5795 UMLS_CUI:C1377598 childhood germ cell brain tumour germ cell neoplasm of the paediatric brain germ cell neoplasm of the pediatric brain disease_ontology DOID:7430 childhood germ cell brain tumor DOID:7430 A central nervous system childhood germ cell tumor that is characterized by germ cell tumor, that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. url:https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq NCI:C39930 UMLS_CUI:C1515311 disease_ontology DOID:7435 polyvesicular vitelline pattern testicular yolk sac tumor DOID:7435 An endometrial adenocarcinoma that has_material_basis_in mesenchymal elements. NCI:C27850 UMLS_CUI:C1336913 disease_ontology DOID:7436 sarcomatoid uterine corpus endometrioid adenocarcinoma DOID:7436 An endometrial adenocarcinoma that has_material_basis_in mesenchymal elements. url:https://en.wikipedia.org/wiki/Sarcomatoid_carcinoma A perivascular epithelioid cell tumor that is located_in the uterus. NCI:C40180 UMLS_CUI:C1519862 uterine corpus PEComa disease_ontology DOID:7437 uterus perivascular epithelioid cell tumor DOID:7437 A perivascular epithelioid cell tumor that is located_in the uterus. url:http://www.pathologyoutlines.com/topic/uterusPEComa.html url:https://en.wikipedia.org/wiki/Perivascular_epithelioid_cell_tumour url:https://www.ncbi.nlm.nih.gov/pubmed/24698426 An ovarian cystadenocarcinoma that is characterized by the presence of cells with clear cytoplasm. NCI:C7980 UMLS_CUI:C0279667 disease_ontology DOID:7438 ovarian clear cell cystadenocarcinoma DOID:7438 An ovarian cystadenocarcinoma that is characterized by the presence of cells with clear cytoplasm. url:https://www.ncbi.nlm.nih.gov/pubmed/22747504 ICD10CM:H74.4 NCI:C6933 SNOMEDCT_US_2023_03_01:155244001 UMLS_CUI:C0271466 polyp - middle ear polyp of the middle ear disease_ontology DOID:7439 polyp of middle ear DOID:7439 disease_ontology DOID:744 obsolete Muscle calcification and ossification true DOID:744 NCI:C35602 UMLS_CUI:C1333042 disease_ontology DOID:7441 chronic metabolic polyneuropathy DOID:7441 A blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood. GARD:7034 MGUS Monoclonal gammopathy of undetermined significance disease_ontology DOID:7442 monoclonal gammopathy of uncertain significance DOID:7442 A blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood. url:https://rarediseases.info.nih.gov/diseases/7034/monoclonal-gammopathy-of-undetermined-significance url:https://www.mayoclinic.org/diseases-conditions/mgus/symptoms-causes/syc-20352362 MGUS NCI:C7364 UMLS_CUI:C1377912 Diffuse intraductal papillomatosis disease_ontology DOID:7444 obsolete diffuse intraductal papillomatosis true DOID:7444 A male reproductive organ benign neoplasm that is located_in the epididymis. NCI:C6382 SNOMEDCT_US_2023_03_01:449052009 UMLS_CUI:C1333415 benign Epididymal epithelial Mesothelioma disease_ontology adenomatoid neoplasm of the epididymis DOID:745 epididymis adenomatoid tumor DOID:745 A male reproductive organ benign neoplasm that is located_in the epididymis. url:https://www.ncbi.nlm.nih.gov/pubmed/19893140 disease_ontology DOID:7455 obsolete hypogonadotropism true DOID:7455 A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching. DOID:7458 ICD10CM:B80 MESH:D010123 SNOMEDCT_US_2023_03_01:154415009 UMLS_CUI:C0030100 Oxyuris vermicularis infection Threadworm infection disease_ontology Enterobius vermicularis infection Pinworm infection oxyuriasis DOID:7457 enterobiasis DOID:7457 A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching. url:http://www.dpd.cdc.gov/DPDx/HTML/Enterobiasis.htm url:http://www.merck.com/mmpe/sec14/ch182/ch182h.html?qt=enterobiasis&alt=sh A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance. NCI:C40359 UMLS_CUI:C1519485 disease_ontology DOID:7459 acantholytic variant squamous cell breast carcinoma DOID:7459 A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3223956/ ICD10CM:D19.9 ICDO:9054/0 MESH:D018254 NCI:C3762 SNOMEDCT_US_2023_03_01:2348006 UMLS_CUI:C0206675 adenomatoid tumour benign localised epithelial Mesothelioma benign localized epithelial Mesothelioma disease_ontology DOID:746 adenomatoid tumor MESH:D018254 DOID:746 A breast squamous cell carcinoma that is characterized by the presence of spindle-shaped malignant cells and arises from the breast parenchyma. NCI:C40358 UMLS_CUI:C1519487 disease_ontology DOID:7460 spindle cell variant squamous cell breast carcinoma DOID:7460 A breast squamous cell carcinoma that is characterized by the presence of spindle-shaped malignant cells and arises from the breast parenchyma. url:https://www.ncbi.nlm.nih.gov/pubmed/25822766 A breast squamous cell carcinoma characterized by large epithelial cells that contain keratin. NCI:C40357 UMLS_CUI:C1519486 disease_ontology DOID:7461 large cell keratinizing variant squamous cell breast carcinoma DOID:7461 A breast squamous cell carcinoma characterized by large epithelial cells that contain keratin. url:https://ncim.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI%20Metathesaurus&code=C1519486 NCI:C7959 UMLS_CUI:C0279614 childhood anaplastic Rhabdomyosarcoma disease_ontology DOID:7463 childhood pleomorphic rhabdomyosarcoma DOID:7463 A hypersensitivity reaction type IV disease that is characterized by absolute lymphocytosis of natural killer (CD3- CD16+) cells often with concurrent cytopenia and has_symptom fever, arthralgia, apthous ulcers, vasculitic skin rash, and peripheral neuropathy. NCI:C39591 SNOMEDCT_US_2023_03_01:722955006 UMLS_CUI:C1512709 NK-cell large granular Lymphocyte Lymphocytosis disease_ontology DOID:7465 chronic NK-cell lymphocytosis DOID:7465 A hypersensitivity reaction type IV disease that is characterized by absolute lymphocytosis of natural killer (CD3- CD16+) cells often with concurrent cytopenia and has_symptom fever, arthralgia, apthous ulcers, vasculitic skin rash, and peripheral neuropathy. url:https://www.ncbi.nlm.nih.gov/pubmed/8624463 Epithelioid and spindle-cell nevus desmoplastic nevus desmoplastic nevus of skin (disorder) disease_ontology DOID:7468 obsolete Spitz nevus true DOID:7468 Balloon cell nevus Balloon cell nevus (morphologic abnormality) disease_ontology DOID:7469 obsolete balloon cell nevus true DOID:7469 neuronevus (morphologic abnormality) disease_ontology DOID:7470 obsolete neural nevus true DOID:7470 disease_ontology DOID:7471 obsolete deep penetrating nevus true DOID:7471 disease_ontology DOID:7472 obsolete recurrent nevus true DOID:7472 relapsed malignant Pleural Mesothelioma disease_ontology DOID:7473 obsolete recurrent malignant pleural mesothelioma true DOID:7473 A pleural cancer that has_material_basis_in mesothelium cells. ICD10CM:C45.0 MESH:D000086002 NCI:C7376 SNOMEDCT_US_2023_03_01:254645002 UMLS_CUI:C0812413 malignant mesothelioma of pleura disease_ontology DOID:7474 malignant pleural mesothelioma DOID:7474 A pleural cancer that has_material_basis_in mesothelium cells. url:http://en.wikipedia.org/wiki/Mesothelioma An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall. MESH:D004238 NCI:C26752 SNOMEDCT_US_2023_03_01:155779000 UMLS_CUI:C0012813 disease_ontology DOID:7475 diverticulitis DOID:7475 An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall. url:https://en.wikipedia.org/wiki/Diverticulitis NCI:C27407 UMLS_CUI:C1333320 duodenal delta cell somatostatin producing tumor disease_ontology DOID:7479 duodenal somatostatinoma DOID:7479 ICDO:8014/3 NCI:C6876 SNOMEDCT_US_2023_03_01:128629005 UMLS_CUI:C1265997 large cell lung carcinoma with Rhabdoid Phenotype disease_ontology DOID:7480 large cell carcinoma with rhabdoid phenotype DOID:7480 NCI:C5271 UMLS_CUI:C1335396 meningioma of the Petrous Ridge disease_ontology DOID:7482 petrous apex meningioma DOID:7482 A cervical squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization. NCI:C40187 UMLS_CUI:C1517658 disease_ontology DOID:7483 cervical keratinizing squamous cell carcinoma DOID:7483 A cervical squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization. url:https://www.ncbi.nlm.nih.gov/pubmed/11688467 url:https://www.ncbi.nlm.nih.gov/pubmed/31651557 metastatic renal cell cancer disease_ontology DOID:7486 obsolete metastatic renal cell carcinoma true DOID:7486 A female urethral cancer located_in the posterior urethra. NCI:C7640 UMLS_CUI:C0279931 Posterior urethral malignant tumor disease_ontology DOID:7488 posterior urethra cancer DOID:7488 A female urethral cancer located_in the posterior urethra. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/posterior-urethral-cancer A bone inflammation disease that involves rupture of the growth plate in children located_in tibia. ICD10CM:M92.52 MESH:D055034 NCI:C34874 SNOMEDCT_US_2023_03_01:72047008 UMLS_CUI:C0029376 Osgood-Schlatter disease Osteochondritis of tibial tubercle Osteochondrosis of proximal tibia juvenile osteochondrosis of tibial tubercle disease_ontology DOID:7489 Osgood-Schlatter's disease DOID:7489 A bone inflammation disease that involves rupture of the growth plate in children located_in tibia. url:http://en.wikipedia.org/wiki/Osgood%E2%80%93Schlatter_disease url:http://www.mayoclinic.com/health/osgood-schlatter-disease/DS00392 url:http://www.nlm.nih.gov/medlineplus/ency/article/001258.htm disease_ontology GI Bleeding DOID:749 active peptic ulcer disease DOID:749 NCI:C40319 UMLS_CUI:C1520093 disease_ontology DOID:7491 vulvar proximal-type epithelioid sarcoma DOID:7491 NCI:C27472 UMLS_CUI:C1335563 disease_ontology DOID:7492 central epithelioid sarcoma DOID:7492 A brain glioma that is characterized by tumor of the ependyma, has_material_basis_in abnormally proliferating cells derives_from ependymal cells, located_in spine in adults and located_in intracranial (4th ventricle) in children. NCI:C3861 SNOMEDCT_US_2023_03_01:254939008 UMLS_CUI:C0238029 Ependymal tumor of brain Ependymoma of brain disease_ontology DOID:7497 brain ependymoma DOID:7497 A brain glioma that is characterized by tumor of the ependyma, has_material_basis_in abnormally proliferating cells derives_from ependymal cells, located_in spine in adults and located_in intracranial (4th ventricle) in children. url:https://en.wikipedia.org/wiki/Ependyma url:https://en.wikipedia.org/wiki/Ependymoma A papillomavirus infectious disease and complicated_by acquired immunodeficiency syndrome that results_in infection, has_material_basis_in human papillomavirus, in patients with AIDS. disease_ontology DOID:7498 obsolete AIDS-related Human papillomavirus infectious disease true DOID:7498 A papillomavirus infectious disease and complicated_by acquired immunodeficiency syndrome that results_in infection, has_material_basis_in human papillomavirus, in patients with AIDS. url:http://www.aids.org/topics/human-papillomavirus-hpv/ An immune system disease that is located_in the lymphatic system. MESH:D008206 SNOMEDCT_US_2023_03_01:266326002 UMLS_CUI:C0024228 Lymphangiopathy Lymphatic disease disease of lympoid system disorder of lymph node and lymphatics disorder of lymphatic system disorder of lymphoid system lymphatic disorder lympoid system disease disease_ontology DOID:75 lymphatic system disease DOID:75 An immune system disease that is located_in the lymphatic system. url:http://en.wikipedia.org/wiki/Lymphatic_disease url:http://www.nlm.nih.gov/medlineplus/lymphaticdiseases.html DOID:11466 DOID:12635 DOID:13115 ICD10CM:K27 ICD9CM:533 MESH:D010437 NCI:C3318 SNOMEDCT_US_2023_03_01:155701001 UMLS_CUI:C0030920 acute peptic ulcer with hemorrhage acute peptic ulcer with hemorrhage and perforation acute peptic ulcer without hemorrhage and without perforation disease_ontology DOID:750 peptic ulcer disease DOID:750 NCI:C9041 UMLS_CUI:C0278599 pediatric infratentorial ependymoma disease_ontology DOID:7501 childhood infratentorial ependymoma DOID:7501 NCI:C9043 UMLS_CUI:C0278650 paediatric Cerebral Ependymoma paediatric Supratentorial Ependymoblastoma paediatric supratentorial ependymoma pediatric Cerebral Ependymoma pediatric Supratentorial Ependymoblastoma pediatric supratentorial ependymoma disease_ontology DOID:7502 childhood supratentorial ependymoma DOID:7502 An extrahepatic bile duct adenoma that is located_in the extrahepatic bile duct. NCI:C5849 UMLS_CUI:C1333510 Papillary adenoma of the extrahepatic bile duct disease_ontology DOID:7503 extrahepatic bile duct papillary adenoma DOID:7503 An extrahepatic bile duct adenoma that is located_in the extrahepatic bile duct. url:https://www.ncbi.nlm.nih.gov/pubmed/20690568 testicular mixed Embryonal carcinoma and Yolk Sac tumor disease_ontology DOID:7504 obsolete mixed embryonal carcinoma and endodermal sinus neoplasm of the testis true DOID:7504 NCI:C4432 SNOMEDCT_US_2023_03_01:126832004 UMLS_CUI:C0345832 neoplasm of small intestine small intestinal neoplasm disease_ontology DOID:7505 small intestine benign neoplasm DOID:7505 NCI:C27452 UMLS_CUI:C3274143 disease_ontology DOID:7506 small intestinal L-cell glucagon-like peptide producing tumor DOID:7506 Placenta Malformation Variation of placenta form disease_ontology DOID:7507 obsolete malformation of placenta true DOID:7507 A benign breast neoplasm characterized by the presence of multiple intraductal papillomas. DOID:1634 NCI:C5201 UMLS_CUI:C1334247 Intraductal papillomatosis of the breast breast papillomatosis disease_ontology DOID:7511 breast intraductal papillomatosis DOID:7511 A benign breast neoplasm characterized by the presence of multiple intraductal papillomas. url:https://www.ncbi.nlm.nih.gov/pubmed/23640929 NCI:C7365 disease_ontology DOID:7512 Obsolete Concept in NCI, LS. obsolete localized intraductal papillomatosis true DOID:7512 MESH:C536741 NCI:C40141 UMLS_CUI:C1520159 disease_ontology DOID:7514 Wolffian adnexal neoplasm DOID:7514 NCI:C5298 UMLS_CUI:C1334436 meningioma of Lumbar Spinal canal and Spinal Cord disease_ontology DOID:7515 lumbar spinal canal and spinal cord meningioma DOID:7515 A central nervous system germ cell tumor of childhood that is characterized by mixed germ cell tumor, develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. NCI:C27403 UMLS_CUI:C1332956 disease_ontology DOID:7516 childhood central nervous system mixed germ cell tumor DOID:7516 A central nervous system germ cell tumor of childhood that is characterized by mixed germ cell tumor, develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. url:https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq mixed germ cell tumor of CNS disease_ontology DOID:7517 obsolete central nervous system mixed germ cell tumor true DOID:7517 ICD10CM:F52.31 ICD9CM:302.73 NCI:C34958 SNOMEDCT_US_2023_03_01:60103007 UMLS_CUI:C0033948 female Orgasmic disorder disease_ontology DOID:7518 inhibited female orgasm DOID:7518 A cervix carcinoma that is located_in the endocervix. SNOMEDCT_US_2023_03_01:372098004 UMLS_CUI:C1299237 carcinoma of endocervix carcinoma of the Endocervix disease_ontology DOID:7519 endocervical carcinoma DOID:7519 A cervix carcinoma that is located_in the endocervix. url:https://www.ncbi.nlm.nih.gov/pubmed/2067992 DOID:751 MESH:D010439 SNOMEDCT_US_2023_03_01:88169003 UMLS_CUI:C0030925 Peptic ulcer with perforation Perforated peptic ulcer acute peptic ulcer with perforation disease_ontology DOID:752 peptic ulcer perforation DOID:752 A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts. NCI:C40388 UMLS_CUI:C1518974 disease_ontology DOID:7520 periductal breast myoepitheliosis DOID:7520 A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts. url:https://www.ncbi.nlm.nih.gov/pubmed/23533258 A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts. NCI:C40385 UMLS_CUI:C1513799 disease_ontology DOID:7521 breast myoepitheliosis DOID:7521 A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts. url:http://www.pathologyoutlines.com/topic/breastmyoepithelioma.html url:https://www.ncbi.nlm.nih.gov/pubmed/1709559 A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children. NCI:C6773 UMLS_CUI:C1332972 childhood infratentorial ependymoblastoma pediatric infratentorial ependymoblastoma disease_ontology DOID:7522 childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered DOID:7522 A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6773 metastatic tumor to the Ciliary body disease_ontology DOID:7526 obsolete metastatic neoplasm to the ciliary body true DOID:7526 An acute endometritis that is caused by gonorrhea. ICD9CM:098.16 SNOMEDCT_US_2023_03_01:186913003 UMLS_CUI:C0153196 Gonococcal endometritis Uterus - acute gonorrhoea acute gonorrhea of uterus disease_ontology DOID:7527 acute gonococcal endometritis DOID:7527 An acute endometritis that is caused by gonorrhea. url:https://en.wikipedia.org/wiki/Endometritis An endometritis that is characterized by onset within the past 1 - 3 days. NCI:C27022 SNOMEDCT_US_2023_03_01:155976002 UMLS_CUI:C0238103 disease_ontology DOID:7528 acute endometritis DOID:7528 An endometritis that is characterized by onset within the past 1 - 3 days. url:https://librepathology.org/wiki/Endometritis url:https://www.ncbi.nlm.nih.gov/pubmed/23537790 An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland. NCI:C5609 SNOMEDCT_US_2023_03_01:128655006 UMLS_CUI:C1266027 adenocarcinoma of anal ducts anal glands adenocarcinoma disease_ontology adenocarcinoma of anal gland DOID:7531 anal gland adenocarcinoma DOID:7531 An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland. url:http://en.wikipedia.org/wiki/Adenocarcinoma ICDO:8060/0 NCI:C9009 SNOMEDCT_US_2023_03_01:82049002 UMLS_CUI:C1378340 disease_ontology DOID:7532 squamous papillomatosis DOID:7532 NCI:C9008 disease_ontology DOID:7533 subareolar duct papillomatosis DOID:7533 A breast secretory carcinoma that is characterized by numerous cysts of varying sizes containing gelatinous material on gross examination, microscopically dilated ducts containing eosinophilic secretion and the absence of micropapillary pattern and cytological atypia in the lining epithelium. cystic hypersecretory duct carcinoma of the breast disease_ontology cystic hypersecretory carcinoma of the breast DOID:7537 breast cystic hypersecretory carcinoma DOID:7537 A breast secretory carcinoma that is characterized by numerous cysts of varying sizes containing gelatinous material on gross examination, microscopically dilated ducts containing eosinophilic secretion and the absence of micropapillary pattern and cytological atypia in the lining epithelium. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535374/ A breast adenoma that is characterized by a prominent fibrotic capsule and a bilayered tubular component. NCI:C40384 UMLS_CUI:C1511307 disease_ontology DOID:7538 breast ductal adenoma DOID:7538 A breast adenoma that is characterized by a prominent fibrotic capsule and a bilayered tubular component. url:https://www.ncbi.nlm.nih.gov/pubmed/25862065 A breast adenoma that occurs during pregnancy. NCI:C9473 SNOMEDCT_US_2023_03_01:128651002 UMLS_CUI:C1266023 Lactating adenoma disease_ontology DOID:7539 pregnancy adenoma DOID:7539 A breast adenoma that occurs during pregnancy. url:https://www.ncbi.nlm.nih.gov/pubmed/25835417 An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles. ICD10CM:A18.12 ICD9CM:016.1 SNOMEDCT_US_2023_03_01:32268008 UMLS_CUI:C0152793 Tuberculosis of bladder Tuberculous cystitis disease_ontology DOID:754 bladder tuberculosis DOID:754 An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles. url:https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf A breast adenoma that is characterized by apocine differentiation. NCI:C40383 UMLS_CUI:C1388299 disease_ontology DOID:7540 breast apocrine adenoma DOID:7540 A breast adenoma that is characterized by apocine differentiation. url:https://www.ncbi.nlm.nih.gov/pubmed/17936522 A breast metaplastic carcinoma that is characterized by the presence of epithelial and mesenchymal components. NCI:C40364 UMLS_CUI:C1513365 disease_ontology DOID:7541 mixed epithelial/mesenchymal metaplastic breast carcinoma DOID:7541 A breast metaplastic carcinoma that is characterized by the presence of epithelial and mesenchymal components. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976087/ NCI:C6469 SNOMEDCT_US_2023_03_01:33681003 UMLS_CUI:C0334546 Osteosarcoma Arising in osseous Paget's disease osteosarcoma arising in bone Paget disease disease_ontology DOID:7542 osteosarcoma arising in bone Paget's disease DOID:7542 recurrent squamous cell carcinoma of esophagus disease_ontology DOID:7543 obsolete recurrent squamous cell carcinoma of the esophagus true DOID:7543 relapsed carcinoma of the esophagus disease_ontology DOID:7544 obsolete recurrent esophagus cancer true DOID:7544 NCI:C6088 SNOMEDCT_US_2023_03_01:403945001 UMLS_CUI:C0334352 Ceruminous adenoma disease_ontology DOID:7549 ceruminoma DOID:7549 A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods. DOID:10409 DOID:13557 ICD10CM:A54 ICD9CM:098 MEDDRA:10018604 MESH:D006069 NCI:C92950 SNOMEDCT_US_2023_03_01:186943001 UMLS_CUI:C0018081 chronic gonococcal infectious disease of lower genitourinary tract chronic gonococcal infectious disease of upper genitourinary tract disease_ontology DOID:7551 gonorrhea DOID:7551 A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods. url:http://www.cdc.gov/std/gonorrhea/STDFact-gonorrhea.htm DOID:7552 DOID:7800 NCI:C39824 UMLS_CUI:C1512743 Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements disease_ontology DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant DOID:7553 Paget's disease and intraductal carcinoma of breast Paget's disease and intraductal carcinoma of breast (morphologic abnormality) Paget's disease of the breast with Intraductal carcinoma disease_ontology DOID:7554 obsolete Paget's disease and intraductal carcinoma of breast true DOID:7554 A HIV encephalopathy that results_in inflammation located_in white matter of neuraxis, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom weakness, has_symptom paralysis, has_symptom vision loss, has_symptom impaired speech, and has_symptom cognitive deterioration. Human immunodefiency virus leukoencephalopathy (disorder) disease_ontology DOID:7555 obsolete HIV leukoencephalopathy true DOID:7555 A HIV encephalopathy that results_in inflammation located_in white matter of neuraxis, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom weakness, has_symptom paralysis, has_symptom vision loss, has_symptom impaired speech, and has_symptom cognitive deterioration. url:http://emedicine.medscape.com/article/1167145-overview url:http://en.wikipedia.org/wiki/Progressive_multifocal_leukoencephalopathy MESH:D020435 NCI:C27212 UMLS_CUI:C0751942 disease_ontology DOID:7558 glossopharyngeal motor neuropathy DOID:7558 NCI:C27953 UMLS_CUI:C1332341 disease_ontology DOID:7559 asymmetric motor neuropathy DOID:7559 A vulva carcinoma that is characterized by heterogenous histology that includes squamous cells, mucinous cells, clear cells, pigmented cells, and spindle cells and derives_from eccrine sweat glands. NCI:C40306 UMLS_CUI:C1520081 disease_ontology DOID:7565 vulvar eccrine porocarcinoma DOID:7565 A vulva carcinoma that is characterized by heterogenous histology that includes squamous cells, mucinous cells, clear cells, pigmented cells, and spindle cells and derives_from eccrine sweat glands. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5105286/ GARD:7431 MESH:D057090 NCI:C5560 SNOMEDCT_US_2023_03_01:254708001 UMLS_CUI:C1266065 Eccrine porocarcinoma of skin Porocarcinoma malignant Eccrine Poroma disease_ontology DOID:7566 eccrine porocarcinoma DOID:7566 A vulva carcinoma that derives_from sweat glands and is characterized by the presence of clear cells. NCI:C40307 UMLS_CUI:C1520076 disease_ontology DOID:7567 vulvar clear cell hidradenocarcinoma DOID:7567 A vulva carcinoma that derives_from sweat glands and is characterized by the presence of clear cells. url:https://pubmed.ncbi.nlm.nih.gov/8428700/ disease_ontology DOID:7568 obsolete adult brain meningioma true DOID:7568 disease_ontology DOID:757 obsolete thyrotoxicosis with toxic single thyroid nodule true DOID:757 ICDO:8959/3 malignant multilocular cystic nephroma disease_ontology DOID:7571 malignant cystic nephroma DOID:7571 NCI:C5725 UMLS_CUI:C1335304 Intraductal Papillary-mucinous carcinoma of pancreas disease_ontology DOID:7574 pancreatic intraductal papillary-colloid carcinoma DOID:7574 A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Pancreatic Intraductal Neoplasms SNOMEDCT_US_2023_03_01:128689007 UMLS_CUI:C1266071 disease_ontology DOID:7575 pancreatic intraductal papillary-mucinous neoplasm DOID:7575 A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C38342 disease_ontology DOID:7576 obsolete metastatic pancreatic adenocarcinoma true DOID:7576 NCI:C37256 UMLS_CUI:C1335303 disease_ontology DOID:7577 pancreatic foamy gland adenocarcinoma DOID:7577 A breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue. NCI:C7362 SNOMEDCT_US_2023_03_01:254839007 UMLS_CUI:C0346151 Infiltrating carcinoma of breast with Fibrotic Stroma scirrhous carcinoma of breast disease_ontology DOID:7578 breast scirrhous carcinoma DOID:7578 A breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132957/ A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs and that has_material_basis_in heterozygous mutation in the NODAL gene on chromosome 10q22. GARD:4883 ICD10CM:Q89.3 ICD9CM:759.3 MESH:D012857 MIM:270100 NCI:C87121 SNOMEDCT_US_2023_03_01:157033002 UMLS_CUI:C0037221 Complete transposition Laterality sequence situs inversus situs inversus viscerum disease_ontology DOID:758 OMIM mapping confirmed by DO. [LS]. visceral heterotaxy 5 DOID:758 A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs and that has_material_basis_in heterozygous mutation in the NODAL gene on chromosome 10q22. url:https://en.wikipedia.org/wiki/Situs_inversus url:https://pubmed.ncbi.nlm.nih.gov/3812559/ url:https://rarediseases.info.nih.gov/diseases/4883/situs-inversus Depressive type psychosis Severe major depression with psychotic features (disorder) psychotic depression disease_ontology DOID:7581 obsolete psychogenic depressive psychosis true DOID:7581 NCI:C8189 UMLS_CUI:C0280329 Glottic verrucous carcinoma disease_ontology verrucous carcinoma of glottis DOID:7583 glottis verrucous carcinoma DOID:7583 NCI:C8190 UMLS_CUI:C0280330 verrucous carcinoma of Subglottis disease_ontology verrucous carcinoma of the subglottis DOID:7584 subglottis verrucous carcinoma DOID:7584 NCI:C8187 UMLS_CUI:C0280326 Epidermoid carcinoma of the Subglottis disease_ontology DOID:7585 subglottis squamous cell carcinoma DOID:7585 NCI:C8191 UMLS_CUI:C0280331 verrucous carcinoma of Supraglottis disease_ontology verrucous carcinoma of the supraglottis DOID:7586 supraglottis verrucous carcinoma DOID:7586 NCI:C4945 UMLS_CUI:C0749163 Epidermoid carcinoma of the Supraglottis disease_ontology DOID:7587 supraglottis squamous cell carcinoma DOID:7587 mixed Yolk Sac tumor and teratoma of testis disease_ontology DOID:7588 obsolete mixed endodermal sinus neoplasm and teratoma of the testis true DOID:7588 disease_ontology DOID:7589 obsolete ovarian dermoid cyst with melanocytic nevus true DOID:7589 congenital abnormality disease_ontology DOID:759 obsolete congenital disorder true DOID:759 disease_ontology DOID:7590 obsolete ovarian dermoid cyst with secondary melanocytic lesion true DOID:7590 A choriocarcinoma of the ovary that develops in the presence of a preceding gestational event. NCI:C40442 UMLS_CUI:C1517538 disease_ontology DOID:7591 gestational ovarian choriocarcinoma DOID:7591 A choriocarcinoma of the ovary that develops in the presence of a preceding gestational event. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520233/ relapsed pediatric Medulloblastoma disease_ontology DOID:7593 obsolete recurrent pediatric medulloblastoma true DOID:7593 NCI:C27925 UMLS_CUI:C1332337 disease_ontology DOID:7596 asbestos-related lung carcinoma DOID:7596 A cervical squamous cell carcinoma that is characterized by poorly defined islands of undifferentiated squamous cells in a background intensely infi ltrated by lymphocytes. The tumour cells have uniform, vesicular nuclei with prominent nucleoli and moderate amounts of slightly eosinophilic cytoplasm. The cell borders are indistinct. NCI:C40193 UMLS_CUI:C1516418 disease_ontology DOID:7598 cervical lymphoepithelioma-like carcinoma DOID:7598 A cervical squamous cell carcinoma that is characterized by poorly defined islands of undifferentiated squamous cells in a background intensely infi ltrated by lymphocytes. The tumour cells have uniform, vesicular nuclei with prominent nucleoli and moderate amounts of slightly eosinophilic cytoplasm. The cell borders are indistinct. url:https://www.ncbi.nlm.nih.gov/pubmed/28217683 NCI:C7998 UMLS_CUI:C0279706 Lymphoepithelioma-like carcinoma of the Thymus disease_ontology DOID:7599 lymphoepithelioma-like thymic carcinoma DOID:7599 A gastrointestinal system disease that is located_in the stomach. MESH:D013272 NCI:C26886 SNOMEDCT_US_2023_03_01:196598004 UMLS_CUI:C0038354 Gastropathy stomach disorder disease_ontology gastric disease DOID:76 stomach disease DOID:76 A gastrointestinal system disease that is located_in the stomach. url:http://en.wikipedia.org/wiki/Stomach_disease NCI:C39821 UMLS_CUI:C1512736 disease_ontology DOID:7600 infiltrating bladder lymphoepithelioma-like carcinoma DOID:7600 Advanced malignant Mesothelioma of Pleura disease_ontology DOID:7601 obsolete advanced malignant pleural mesothelioma true DOID:7601 A bone osteosarcoma that is characterized by the presence of osteoid extracellular matrix and that arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. DOID:3378 ICDO:9195/3 NCI:C35870 SNOMEDCT_US_2023_03_01:128770002 UMLS_CUI:C1266166 Intracortical osteosarcoma Medullary Osteosarcoma conventional central osteosarcoma intracortical osteogenic sarcoma disease_ontology DOID:7602 conventional osteosarcoma DOID:7602 A bone osteosarcoma that is characterized by the presence of osteoid extracellular matrix and that arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. url:https://radiopaedia.org/articles/osteosarcoma NCI:C4020 SNOMEDCT_US_2023_03_01:12690005 UMLS_CUI:C0279602 Fibroblastic osteosarcoma Fibrosarcomatous Osteogenic sarcoma disease_ontology DOID:7603 fibrosarcomatous osteosarcoma DOID:7603 ICDO:8321/0 NCI:C4154 SNOMEDCT_US_2023_03_01:12205003 UMLS_CUI:C0334320 Chief cell adenoma of Parathyroid gland disease_ontology DOID:7607 chief cell adenoma DOID:7607 A parathyroid gland benign neoplam that is located_in the parathyroid. MESH:D010282 NCI:C156757 SNOMEDCT_US_2023_03_01:128474007 UMLS_CUI:C0262587 adenoma of the Parathyroid gland disease_ontology adenoma of parathyroid DOID:7608 parathyroid adenoma DOID:7608 A parathyroid gland benign neoplam that is located_in the parathyroid. url:https://en.wikipedia.org/wiki/Parathyroid_adenoma NCI:C7993 UMLS_CUI:C0279700 Clear cell adenoma of the Parathyroid disease_ontology DOID:7609 parathyroid transitional clear cell adenoma DOID:7609 Meningococcal endocarditis (disorder) disease_ontology DOID:761 obsolete meningococcal endocarditis true DOID:761 NCI:C7994 UMLS_CUI:C0279701 mixed cell type adenoma of the Parathyroid gland disease_ontology DOID:7610 mixed cell type adenoma of parathyroid DOID:7610 NCI:C27393 UMLS_CUI:C1335351 disease_ontology DOID:7611 parathyroid oncocytic adenoma DOID:7611 NCI:C6590 UMLS_CUI:C1332974 disease_ontology DOID:7612 childhood intracortical osteosarcoma DOID:7612 NCI:C4334 SNOMEDCT_US_2023_03_01:14494009 UMLS_CUI:C0334612 Meningeal sarcomatosis sarcomatosis of meninges disease_ontology DOID:7613 sarcomatosis of the meninges DOID:7613 NCI:C4073 SNOMEDCT_US_2023_03_01:78303004 UMLS_CUI:C0302327 Meningeal sarcoma sarcoma of meninges disease_ontology DOID:7614 meninges sarcoma DOID:7614 A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body. ICDO:8800/9 NCI:C4243 SNOMEDCT_US_2023_03_01:9395006 UMLS_CUI:C0334451 disease_ontology DOID:7615 sarcomatosis DOID:7615 A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body. url:https://www.merriam-webster.com/dictionary/sarcomatosis DOID:14105 Bacterial endocarditis Bacterial endocarditis (& [acute] or [subacute]) Bacterial endocarditis (disorder) Bacterial endocarditis (disorder) [Ambiguous] Endocarditis, infective NOS acute and subacute bacterial endocarditis acute and subacute bacterial endocarditis (disorder) acute and subacute bacterial endocarditis NOS (disorder) bacterial endocarditis disease_ontology DOID:762 obsolete bacterial endocarditis true DOID:762 Meningococcal carditis (disorder) Meningococcal carditis NOS (disorder) Meningococcal carditis unspecified (disorder) Meningococcal carditis, unspecified disease_ontology DOID:763 obsolete meningococcal carditis true DOID:763 An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults. NCI:C8290 UMLS_CUI:C0281330 adult ependymoblastoma disease_ontology DOID:7631 adult embryonal tumor with multilayered rosettes, C19MC-altered DOID:7631 An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/ A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland. NCI:C39864 UMLS_CUI:C1516284 disease_ontology DOID:7632 Cowper gland carcinoma DOID:7632 A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland. url:http://en.wikipedia.org/wiki/Cowper_gland MESH:D012167 NCI:C34795 SNOMEDCT_US_2023_03_01:193388002 UMLS_CUI:C0024441 Macular hole disease_ontology DOID:7633 macular holes DOID:7633 NCI:C6776 UMLS_CUI:C1336535 disease_ontology DOID:7634 suprasellar meningioma DOID:7634 NCI:C6779 UMLS_CUI:C1333760 meningioma of Gasserian Ganglion disease_ontology DOID:7635 Gasserian ganglion meningioma DOID:7635 relapsed carcinoma of the small Intestine disease_ontology DOID:7636 obsolete recurrent cancer of small Intestine true DOID:7636 Paget's disease of breast with Infiltrating ductal carcinoma disease_ontology DOID:7638 obsolete Paget's disease and invasive ductal carcinoma of breast true DOID:7638 NCI:C5614 UMLS_CUI:C1334575 malignant granular cell skin neoplasm malignant granular cell skin tumour malignant granular cell tumor of skin malignant granular cell tumour of skin disease_ontology DOID:7639 malignant granular cell skin tumor DOID:7639 Meningococcal pericarditis (disorder) disease_ontology DOID:764 obsolete meningococcal pericarditis true DOID:764 Unresectable Small Intestine carcinoma disease_ontology DOID:7641 obsolete non-resectable small intestine carcinoma true DOID:7641 NCI:C41617 UMLS_CUI:C1516490 disease_ontology DOID:7642 cholangiolocellular carcinoma DOID:7642 NCI:C4460 SNOMEDCT_US_2023_03_01:254654004 UMLS_CUI:C0345979 acantholytic squamous cell carcinoma of skin disease_ontology DOID:7643 acantholytic squamous cell skin carcinoma DOID:7643 NCI:C5275 UMLS_CUI:C1334825 Multiple meningiomas of the Spinal canal and Spinal Cord disease_ontology DOID:7646 multiple spinal canal and spinal cord meningioma DOID:7646 An ovarian small cell carcinoma that resembles pulmonary small cell carcinoma of neuroendocrine type. NCI:C40440 UMLS_CUI:C1518737 disease_ontology DOID:7650 pulmonary type ovarian small cell carcinoma DOID:7650 An ovarian small cell carcinoma that resembles pulmonary small cell carcinoma of neuroendocrine type. url:https://www.ncbi.nlm.nih.gov/pubmed/23896708 An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia. NCI:C40439 UMLS_CUI:C1518736 hypercalcemic type ovarian small cell carcinoma disease_ontology DOID:7651 small-cell carcinoma of the ovary of hypercalcemic type DOID:7651 An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939673/ disease_ontology DOID:7652 obsolete rare cancer-associated syndrome true DOID:7652 NCI:C8289 UMLS_CUI:C0281329 adult Infiltrating Astrocytic tumor adult Infiltrating astrocytoma disease_ontology DOID:7656 adult infiltrating astrocytic neoplasm DOID:7656 Undifferentiated astrocytoma of adult disease_ontology DOID:7657 obsolete anaplastic astrocytoma of adult true DOID:7657 An endometrial adenocarcinoma that is composed of both type I (endometrioid) and type II (serous or clear cell type) tumors, with at least 10% of each component. NCI:C40153 disease_ontology DOID:7664 endometrial mixed adenocarcinoma DOID:7664 An endometrial adenocarcinoma that is composed of both type I (endometrioid) and type II (serous or clear cell type) tumors, with at least 10% of each component. url:http://www.pathologyoutlines.com/topic/uterusmixedcarcinoma.html An ovarian primitive germ cell tumor that has_material_basis_in trophoblastic cells and develops in the absence of a preceding gestational event. NCI:C39991 UMLS_CUI:C1518355 disease_ontology DOID:7665 non-gestational ovarian choriocarcinoma DOID:7665 An ovarian primitive germ cell tumor that has_material_basis_in trophoblastic cells and develops in the absence of a preceding gestational event. url:https://www.ncbi.nlm.nih.gov/pubmed/20090265 MESH:D009133 NCI:C94834 SNOMEDCT_US_2023_03_01:267693003 UMLS_CUI:C0026846 Amyotrophia Muscle wasting Wasting - muscle disease_ontology DOID:767 muscular atrophy DOID:767 relapsed carcinoma of penis disease_ontology DOID:7671 obsolete recurrent penis cancer true DOID:7671 disease_ontology DOID:7672 obsolete regressing non-cutaneous melanoma true DOID:7672 NCI:C39951 UMLS_CUI:C1515282 disease_ontology DOID:7675 testicular fibroma DOID:7675 NCI:C39952 UMLS_CUI:C1515299 disease_ontology DOID:7676 testicular thecoma DOID:7676 disease_ontology DOID:7677 obsolete bone metastatic Ewing's sarcoma true DOID:7677 NCI:C6841 UMLS_CUI:C1336037 Inverted papilloma of the Sphenoid sinus disease_ontology DOID:7678 sphenoid sinus inverted papilloma DOID:7678 NCI:C6838 UMLS_CUI:C1336038 Schneiderian papilloma of the Sphenoid sinus disease_ontology DOID:7679 sphenoid sinus Schneiderian papilloma DOID:7679 A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. GARD:7563 ICDO:9510/3 MESH:D012175 MIM:180200 NCI:C7541 SNOMEDCT_US_2023_03_01:154553002 UMLS_CUI:C0035335 RB RB - Retinoblastoma neuroblastoma of Retina disease_ontology DOID:768 OMIM mapping confirmed by DO. [LS]. retinoblastoma DOID:768 A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. url:http://www.cancer.gov/cancertopics/types/retinoblastoma RB mixed Choriocarcinoma and teratoma of testis disease_ontology DOID:7681 obsolete mixed choriocarcinoma and teratoma of the testis true DOID:7681 disease_ontology DOID:7683 obsolete dissecting aortic aneurysm true DOID:7683 NCI:C6240 SNOMEDCT_US_2023_03_01:1255110007 UMLS_CUI:C1334642 adenocarcinoma of the maxillary sinus disease_ontology adenocarcinoma of maxillary sinus DOID:7684 maxillary sinus adenocarcinoma DOID:7684 NCI:C41251 UMLS_CUI:C1518873 disease_ontology DOID:7685 pancreatic non-invasive intraductal papillary-mucinous carcinoma DOID:7685 NCI:C8312 SNOMEDCT_US_2023_03_01:78303004 UMLS_CUI:C1384416 Leptomeningeal sarcoma sarcoma of Leptomeninges disease_ontology DOID:7689 leptomeninges sarcoma DOID:7689 An autonomic nervous system neoplasm that derives_from immature nerve cells. EFO:0000621 GARD:7185 ICDO:9500/3 MESH:D009447 NCI:C3270 ORDO:635 SNOMEDCT_US_2023_03_01:432328008 UMLS_CUI:C0027819 disease_ontology DOID:769 Xref MGI. OMIM mapping confirmed by DO. [SN]. neuroblastoma DOID:769 An autonomic nervous system neoplasm that derives_from immature nerve cells. url:http://www.cancer.gov/cancertopics/types/neuroblastoma An aortic aneurysm that is located_in the abdominal aorta. EFO:0004214 GARD:9181 MESH:D017544 MIM:100070 MIM:609782 MIM:611891 MIM:614375 NCI:C27000 SNOMEDCT_US_2023_03_01:155422008 UMLS_CUI:C0162871 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 disease_ontology DOID:7693 abdominal aortic aneurysm DOID:7693 An aortic aneurysm that is located_in the abdominal aorta. url:http://en.wikipedia.org/wiki/Aortic_aneurysm NCI:C39843 UMLS_CUI:C1511204 disease_ontology DOID:7694 bladder urachal adenocarcinoma DOID:7694 SNOMEDCT_US_2023_03_01:93827000 UMLS_CUI:C0346601 malignant tumor of lung Hilum primary malignant neoplasm of hilus of lung disease_ontology DOID:7696 lung hilum cancer DOID:7696 NCI:C27466 UMLS_CUI:C1335300 pancreatic ACTH hormone producing tumour pancreatic Adrenocorticotropic Hormone Producing tumor pancreatic Adrenocorticotropic Hormone Producing tumour disease_ontology DOID:7697 pancreatic ACTH hormone producing tumor DOID:7697 MESH:C536126 NCI:C45837 SNOMEDCT_US_2023_03_01:703816006 UMLS_CUI:C1334977 disease_ontology DOID:7698 non-functioning pancreatic endocrine tumor DOID:7698 A disease of anatomical entity that is located_in the gastrointestinal tract. DOID:27 DOID:944 ICD10CM:K92.9 ICD9CM:520-579.99 MESH:D004066 SNOMEDCT_US_2023_03_01:53619000 UMLS_CUI:C0012242 GIT disease Gastroenteropathy alimentary system disease digestive system disorder gastrointestinal disease gastrointestinal disorder disease_ontology DOID:77 gastrointestinal system disease DOID:77 A disease of anatomical entity that is located_in the gastrointestinal tract. url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract An oropharyngeal candidiasis that involves fungal infection of the oropharynx by Candida species in AIDS patients. disease_ontology DOID:7702 obsolete AIDS-related oropharyngeal candidiasis true DOID:7702 An oropharyngeal candidiasis that involves fungal infection of the oropharynx by Candida species in AIDS patients. url:http://en.wikipedia.org/wiki/Candidiasis A human papillomavirus related adenocarcinoma that results_in infection, located_in endocervix, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers. HPV-Related Endocervical adenocarcinoma disease_ontology DOID:7704 obsolete human papilloma virus related endocervical adenocarcinoma true DOID:7704 A human papillomavirus related adenocarcinoma that results_in infection, located_in endocervix, has_material_basis_in human papillomaviruses (types 16, 18, 31, 39 or 45), which cause lesions that progress to cancers. url:http://jnci.oxfordjournals.org/content/98/5/303.full.pdf+html url:https://www.ncbi.nlm.nih.gov/pubmed/18813124 A Cytomegalovirus infectious disease that results_in infection located_in esophagus, has_material_basis_in Human herpesvirus 5 and has_symptom odynophagia, has_symptom nausea and vomiting, has_symptom fever, has_symptom diarrhea, and has_symptom hemoptysis. CMV esophagitis disease_ontology DOID:7706 obsolete Cytomegalovirus esophagitis true DOID:7706 A Cytomegalovirus infectious disease that results_in infection located_in esophagus, has_material_basis_in Human herpesvirus 5 and has_symptom odynophagia, has_symptom nausea and vomiting, has_symptom fever, has_symptom diarrhea, and has_symptom hemoptysis. url:http://emedicine.medscape.com/article/173272-overview NCI:C9168 UMLS_CUI:C0279654 Signet Ring cell adenocarcinoma of rectum disease_ontology DOID:7707 rectum signet ring adenocarcinoma DOID:7707 NCI:C7476 UMLS_CUI:C1332270 perianal skin Paget disease disease_ontology DOID:7708 perianal skin Paget's disease DOID:7708 A malignant neoplasm that derives_from the retina. NCI:C7061 UMLS_CUI:C1335765 disease_ontology DOID:771 retinal cell cancer DOID:771 A malignant neoplasm that derives_from the retina. url:http://www.wrongdiagnosis.com/medical/retinal_cancer.htm metastatic extraosseous chondrosarcoma disease_ontology DOID:7710 obsolete metastatic extraskeletal chondrosarcoma true DOID:7710 An adult sarcoma of soft tissue that derives_form the soft tissues of the body. relapsed adult sarcoma of the soft tissue disease_ontology DOID:7712 obsolete recurrent adult soft tissue sarcoma true DOID:7712 An adult sarcoma of soft tissue that derives_form the soft tissues of the body. url:http://www.cancer.gov/cancertopics/pdq/treatment/adult-soft-tissue-sarcoma/Patient NCI:C5284 UMLS_CUI:C1336829 meningioma of the Tuberculum Sellae disease_ontology DOID:7713 tuberculum sellae meningioma DOID:7713 disease_ontology DOID:7714 obsolete metastatic malignant hemangiopericytoma true DOID:7714 SNOMEDCT_US_2023_03_01:999000 UMLS_CUI:C1301048 disease_ontology DOID:7716 mixed ductal-endocrine carcinoma DOID:7716 NCI:C37214 UMLS_CUI:C1333081 disease_ontology DOID:7717 colloid carcinoma of the pancreas DOID:7717 Osteoclast-like Giant cell neoplasm of pancreas disease_ontology DOID:7718 osteoclast-like giant cell neoplasm of the pancreas DOID:7718 metastatic tumor to the Retina disease_ontology DOID:772 obsolete metastasis to the retina true DOID:772 DOID:13426 Generalized convulsive epilepsy, with intractable epilepsy disease_ontology DOID:7724 obsolete generalized convulsive epilepsy true DOID:7724 An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. MESH:D004830 NCI:C3022 SNOMEDCT_US_2023_03_01:352818000 UMLS_CUI:C0014549 Epileptic seizures, tonic-clonic Grand Mal epilepsy tonic-clonic epilepsy disease_ontology DOID:7725 JA:Epilepsy Genetics Kiel epilepsy with generalized tonic-clonic seizures DOID:7725 An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. url:https://www.ncbi.nlm.nih.gov/pubmed/28276060 url:https://www.ncbi.nlm.nih.gov/pubmed/28842445 disease_ontology DOID:7728 obsolete chronic allograft arteriopathy true DOID:7728 ICDO:8551/3 NCI:C5727 SNOMEDCT_US_2023_03_01:128703004 UMLS_CUI:C1266087 pancreatic acinar cell cystadenocarcinoma disease_ontology DOID:7729 acinar cell cystadenocarcinoma DOID:7729 metastatic tumor to the eye secondary malignant neoplasm of eye (disorder) disease_ontology DOID:773 obsolete metastasis to eye true DOID:773 NCI:C8090 UMLS_CUI:C0279983 malignant pediatric hemangiopericytoma disease_ontology DOID:7731 childhood malignant hemangiopericytoma DOID:7731 NCI:C8094 UMLS_CUI:C0279987 pediatric MPNST disease_ontology DOID:7732 childhood malignant schwannoma DOID:7732 NCI:C41619 UMLS_CUI:C1519321 disease_ontology DOID:7733 signet ring cell intrahepatic cholangiocarcinoma DOID:7733 NCI:C5718 SNOMEDCT_US_2023_03_01:690751000119102 UMLS_CUI:C1335309 mucinous Cystadenoma of pancreas disease_ontology DOID:7735 pancreatic colloid cystadenoma DOID:7735 ICD9CM:362.15 SNOMEDCT_US_2023_03_01:84884003 UMLS_CUI:C0154835 disease_ontology DOID:7736 retinal telangiectasia DOID:7736 A human papillomavirus related squamous cell carcinoma that results_in infection located_in penis, has_material_basis_in human papillomavirus (types 16 and 18), which cause malignant tumors in squamous epithelium of the penis. DOID:7740 Condylomatous carcinoma of penis HPV-Related Penile squamous cell carcinoma penis warty carcinoma disease_ontology warty carcinoma of penis DOID:7739 obsolete human papilloma virus related penile squamous cell carcinoma true DOID:7739 A human papillomavirus related squamous cell carcinoma that results_in infection located_in penis, has_material_basis_in human papillomavirus (types 16 and 18), which cause malignant tumors in squamous epithelium of the penis. url:http://jco.ascopubs.org/content/25/29/4550.full.pdf+html NCI:C4365 SNOMEDCT_US_2023_03_01:232075002 UMLS_CUI:C0339556 Lymphoma of retina Retinal Lymphoma disease_ontology DOID:774 retina lymphoma DOID:774 An extraocular retinoblastoma that effects children. NCI:C9048 UMLS_CUI:C1321870 pediatric extraocular retinoblastoma disease_ontology DOID:7747 childhood extraocular retinoblastoma DOID:7747 An extraocular retinoblastoma that effects children. url:http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7 DOID:7746 MESH:D064090 NCI:C9184 UMLS_CUI:C0281658 primary intraocular lymphoma disease_ontology DOID:775 intraocular lymphoma DOID:775 A brain ependymoma that is characterized by tumor in the ependyma of adults located_in spine, located_in intracranial (4th ventricle) and has_material_basis_in abnormally proliferating cells derives_from ependymal cells. NCI:C9372 UMLS_CUI:C1332186 disease_ontology DOID:7750 adult brain ependymoma DOID:7750 A brain ependymoma that is characterized by tumor in the ependyma of adults located_in spine, located_in intracranial (4th ventricle) and has_material_basis_in abnormally proliferating cells derives_from ependymal cells. url:https://en.wikipedia.org/wiki/Ependyma url:https://en.wikipedia.org/wiki/Ependymoma A biliary papillomatosis located_in an extrahepatic bile duct. NCI:C7124 UMLS_CUI:C1333511 disease_ontology DOID:7752 extrahepatic biliary papillomatosis DOID:7752 A biliary papillomatosis located_in an extrahepatic bile duct. url:https://pubmed.ncbi.nlm.nih.gov/21988050/ relapsed testicular carcinoma disease_ontology DOID:7753 obsolete recurrent cancer of testis true DOID:7753 pulmonary Chondroid hamartoma disease_ontology DOID:7754 obsolete Chondroid hamartoma of lung true DOID:7754 A childhood leukemia that occurs during the neonatal period. NCI:C3845 UMLS_CUI:C0235813 disease_ontology DOID:7756 neonatal leukemia DOID:7756 A childhood leukemia that occurs during the neonatal period. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3845 A leukemia that occurs in children. NCI:C4989 UMLS_CUI:C1332977 disease_ontology DOID:7757 childhood leukemia DOID:7757 A leukemia that occurs in children. url:http://www.nlm.nih.gov/medlineplus/leukemiachildhood.html A kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma. NCI:C6566 UMLS_CUI:C1332983 childhood renal Wilms cancer pediatric Multilocular cystic renal tumor disease_ontology benign Multilocular cystic renal tumor DOID:7762 childhood multilocular cystic kidney neoplasm DOID:7762 A kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma. url:http://radiographics.rsna.org/content/15/3/653.abstract NCI:C5973 SNOMEDCT_US_2023_03_01:372105009 UMLS_CUI:C1299240 Supraglottic carcinoma disease_ontology DOID:7763 carcinoma of supraglottis DOID:7763 NCI:C5972 SNOMEDCT_US_2023_03_01:372104008 UMLS_CUI:C1299239 Subglottic carcinoma carcinoma of subglottis disease_ontology DOID:7764 subglottis carcinoma DOID:7764 GARD:6121 ICD10CM:H35.02 ICD9CM:362.12 MESH:D058456 MIM:300216 SNOMEDCT_US_2023_03_01:193359003 UMLS_CUI:C0154832 Coats' disease Coats' syndrome Exudative retinopathy disease_ontology DOID:7765 OMIM mapping confirmed by DO. [SN]. Coats disease DOID:7765 A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect. ICD10CM:F22 ICD9CM:297.1 MESH:D012563 NCI:C94379 SNOMEDCT_US_2023_03_01:48500005 UMLS_CUI:C0011251 disease_ontology DOID:778 delusional disorder DOID:778 A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect. url:http://en.wikipedia.org/wiki/Delusional_disorder mixed Choriocarcinoma and Embryonal carcinoma of testis disease_ontology DOID:7786 obsolete mixed choriocarcinoma and embryonal carcinoma of the testis true DOID:7786 A breast sarcoma that arises from bone. NCI:C5189 UMLS_CUI:C1335149 Osteogenic sarcoma of breast disease_ontology DOID:7787 breast osteosarcoma DOID:7787 A breast sarcoma that arises from bone. url:https://en.wikipedia.org/wiki/Osteosarcoma NCI:C27399 UMLS_CUI:C1332215 disease_ontology DOID:7788 adult spinal cord ependymoma DOID:7788 A uterine Corpus sarcoma that has recurred after it has been treated. relapsed sarcoma of Uterus disease_ontology DOID:7793 obsolete recurrent uterine sarcoma true DOID:7793 A uterine Corpus sarcoma that has recurred after it has been treated. url:http://my.clevelandclinic.org/disorders/uterine_sarcoma/hic_uterine_sarcoma.aspx url:http://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient ureteral transitional cell carcinoma with glandular differentiation disease_ontology DOID:7799 obsolete transitional cell carcinoma of the ureter with glandular differentiation true DOID:7799 A uterine disease that is located_in the placenta. DOID:1815 DOID:5366 DOID:9219 GARD:7402 ICD10CM:O43 ICD9CM:646.9 MESH:D010922 MESH:D011248 NCI:C26857 NCI:C27619 NCI:C34941 NCI:C35169 SNOMEDCT_US_2023_03_01:125586008 SNOMEDCT_US_2023_03_01:172422001 SNOMEDCT_US_2023_03_01:198881004 UMLS_CUI:C0032045 UMLS_CUI:C0032962 UMLS_CUI:C0151864 UMLS_CUI:C1335423 disease_ontology DOID:780 placenta disease DOID:780 A uterine disease that is located_in the placenta. url:http://en.wikipedia.org/wiki/Placenta_disease disease_ontology DOID:7801 obsolete plasmacytoma-like PTLD true DOID:7801 Non-metastatic extraskeletal Osteogenic sarcoma disease_ontology DOID:7805 obsolete nonmetastatic extraskeletal osteosarcoma true DOID:7805 NCI:C27183 SNOMEDCT_US_2023_03_01:276829003 UMLS_CUI:C0559185 Glioblastoma multiforme of spinal cord adult Spinal Cord Glioblastoma disease_ontology DOID:7806 adult spinal cord glioblastoma multiforme DOID:7806 NCI:C6865 UMLS_CUI:C1333026 necrotic Choroid melanoma disease_ontology DOID:7807 choroid necrotic melanoma DOID:7807 An uveal melanoma characterized by the presence of tumor cell necrosis. NCI:C7990 UMLS_CUI:C0279695 disease_ontology DOID:7808 necrotic uveal melanoma DOID:7808 An uveal melanoma characterized by the presence of tumor cell necrosis. url:https://www.nature.com/articles/eye2016275 Undifferentiated Giant cell carcinoma of the Thyroid gland disease_ontology DOID:7809 obsolete anaplastic giant cell thyroid carcinoma true DOID:7809 An intestinal infectious disease and is_a Cytomegalovirus infectious disease that is complicated_by acquired immunodeficiency syndrome which results_in inflammation located_in colon and located_in small intestine, has_material_basis_in Cytomegalovirus in AIDS patients. disease_ontology AIDS-related enterocolitis DOID:7810 obsolete AIDS-related Cytomegalovirus enterocolitis true DOID:7810 An intestinal infectious disease and is_a Cytomegalovirus infectious disease that is complicated_by acquired immunodeficiency syndrome which results_in inflammation located_in colon and located_in small intestine, has_material_basis_in Cytomegalovirus in AIDS patients. url:http://books.google.com/books?id=chs_lilPFLwC&pg=PA173&lpg#v=onepage&q&f=false An Enterovirus infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human echovirus 11, which is transmitted_by contaminated drinking water. The infection has_symptom diarrhea. DOID:7854 disease_ontology DOID:7812 obsolete Enterovirus gastroenteritis true DOID:7812 An Enterovirus infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Human echovirus 11, which is transmitted_by contaminated drinking water. The infection has_symptom diarrhea. url:http://www.springerlink.com/content/p0255l7r3217771k/fulltext.pdf url:https://www.ncbi.nlm.nih.gov/pubmed/17033423 A Cytomegalovirus infectious disease that results_in infection, located_in colon, has_material_basis_in Human herpesvirus 5, which results_in_formation_of ulcer, has_symptom watery or bloody diarrhea, has_symptom abdominal pain, has_symptom fever, and has_symptom weight loss. CMV colitis disease_ontology DOID:7814 obsolete Cytomegalovirus colitis true DOID:7814 A Cytomegalovirus infectious disease that results_in infection, located_in colon, has_material_basis_in Human herpesvirus 5, which results_in_formation_of ulcer, has_symptom watery or bloody diarrhea, has_symptom abdominal pain, has_symptom fever, and has_symptom weight loss. url:http://emedicine.medscape.com/article/173151-overview url:http://www.nlm.nih.gov/medlineplus/ency/article/000667.htm Thymoma malignant recurrent disease_ontology DOID:7815 obsolete recurrent malignant thymoma true DOID:7815 NCI:C8272 UMLS_CUI:C0280792 disease_ontology DOID:7817 mixed astrocytoma-ependymoma-oligodendroglioma DOID:7817 NCI:C5278 UMLS_CUI:C1335395 disease_ontology DOID:7818 petroclival meningioma DOID:7818 NCI:C5285 UMLS_CUI:C1336040 disease_ontology DOID:7819 sphenoorbital meningioma DOID:7819 ICD10CM:N15.9 ICD9CM:590 SNOMEDCT_US_2023_03_01:266618004 UMLS_CUI:C0021313 disease_ontology DOID:782 renal infectious disease DOID:782 NCI:C5313 UMLS_CUI:C1336036 disease_ontology DOID:7820 sphenocavernous meningioma DOID:7820 NCI:C5287 UMLS_CUI:C1336051 Multifocal Clear cell meningioma of Spine disease_ontology DOID:7824 spinal multifocal clear cell meningioma DOID:7824 NCI:C35603 UMLS_CUI:C1333048 disease_ontology DOID:7825 chronic toxic polyneuropathy DOID:7825 NCI:C8293 UMLS_CUI:C0281334 disease_ontology DOID:7826 adult papillary meningioma DOID:7826 An extraosseous osteosarcoma that is located_in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material. NCI:C7925 UMLS_CUI:C0278985 disease_ontology DOID:7827 adult extraosseous osteosarcoma DOID:7827 An extraosseous osteosarcoma that is located_in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material. url:https://pubmed.ncbi.nlm.nih.gov/11786582/ A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease. ICD9CM:585.6 end stage renal failure end-stage kidney disease disease_ontology DOID:783 end stage renal disease DOID:783 A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease. url:https://www.ncbi.nlm.nih.gov/books/NBK499861/ A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillae in squamous epithelium of cervix. disease_ontology DOID:7833 obsolete cervical papillary squamous cell carcinoma true DOID:7833 A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillae in squamous epithelium of cervix. url:http://www.ncbi.nlm.nih.gov/sites/entrez/13678741 A human papillomavirus related squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of cervix. DOID:6371 HPV-Related cervical carcinoma HPV-Related cervical squamous cell carcinoma human papilloma virus related cervical carcinoma disease_ontology DOID:7834 obsolete human papilloma virus related cervical squamous cell carcinoma true DOID:7834 A human papillomavirus related squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause malignant tumors in squamous epithelium of cervix. url:http://clincancerres.aacrjournals.org/content/13/23/7067.full.pdf+html mixed acinar-endocrine carcinoma mixed acinar-endocrine carcinoma (morphologic abnormality) disease_ontology DOID:7836 obsolete mixed acinar-endocrine carcinoma true DOID:7836 A nipple benign neoplasm that is characterized a as locally infiltrative nonmetastasizing tumor of the nipple. NCI:C40363 SNOMEDCT_US_2023_03_01:703552001 UMLS_CUI:C3839745 disease_ontology DOID:7839 infiltrating nipple syringomatous adenoma DOID:7839 A nipple benign neoplasm that is characterized a as locally infiltrative nonmetastasizing tumor of the nipple. url:https://www.pathologyoutlines.com/topic/breastsyringomatousadenomanipple.html A kidney failure that is characterized by the gradual loss of kidney function. ICD10CM:N18.9 ICD9CM:585.6 MESH:D007676 NCI:C9438 SNOMEDCT_US_2023_03_01:155856009 UMLS_CUI:C0022661 CKD CRF chronic kidney failure chronic renal disease chronic renal failure syndrome renal failure - chronic disease_ontology DOID:784 chronic kidney disease DOID:784 A kidney failure that is characterized by the gradual loss of kidney function. url:https://www.mayoclinic.org/diseases-conditions/chronic-kidney-disease/symptoms-causes/syc-20354521 url:https://www.ncbi.nlm.nih.gov/books/NBK499861/ CKD CRF NCI:C28333 UMLS_CUI:C1335311 disease_ontology DOID:7840 pancreatic non-functioning delta cell tumor DOID:7840 An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood. NCI:C115203 childhood cerebral ependymoblastoma pediatric cerebral ependymoblastoma disease_ontology DOID:7841 childhood embryonal tumor with multilayered rosettes, C19MC-altered DOID:7841 An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C115203 A breast carcinoma that is manifested in the female breast. NCI:C2918 UMLS_CUI:C0007104 Mammary carcinoma of female breast disease_ontology carcinoma of female breast DOID:7843 female breast carcinoma DOID:7843 A breast carcinoma that is manifested in the female breast. url:http://en.wikipedia.org/wiki/Breast_cancer disease_ontology DOID:7847 obsolete vascular hemorrhagic disorder true DOID:7847 A histiocytic and dendritic cell cancer that effect dendritic cells. ICD10CM:C96.4 ICDO:9757/3 MESH:D054739 NCI:C9282 SNOMEDCT_US_2023_03_01:715664005 UMLS_CUI:C1260326 Interdigitating cell sarcoma disease_ontology DOID:7848 interdigitating dendritic cell sarcoma DOID:7848 A histiocytic and dendritic cell cancer that effect dendritic cells. url:http://en.wikipedia.org/wiki/Interdigitating_dendritic_cell_sarcoma A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes. ICD10CM:C96.4 NCI:C27260 SNOMEDCT_US_2023_03_01:397355008 UMLS_CUI:C1301364 disease_ontology follicular dendritic cell sarcoma DOID:7849 dendritic cell sarcoma DOID:7849 A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes. url:http://findarticles.com/p/articles/mi_m0BUM/is_12_83/ai_n8704912/ recurrent melanoma of Uvea disease_ontology DOID:7850 obsolete recurrent uvea melanoma true DOID:7850 SNOMEDCT_US_2023_03_01:473418001 UMLS_CUI:C1518868 disease_ontology DOID:7851 pancreatic intraductal papillary-mucinous adenoma DOID:7851 relapsed germ cell tumor of Ovary disease_ontology DOID:7855 obsolete recurrent ovarian germ cell neoplasm true DOID:7855 ICD10CM:S12.8 ICD9CM:478.70 MESH:D007818 NCI:C26810 SNOMEDCT_US_2023_03_01:195863001 UMLS_CUI:C0023051 disease_ontology DOID:786 laryngeal disease DOID:786 NCI:C5792 UMLS_CUI:C1370504 germinoma of the adult central nervous system disease_ontology DOID:7867 adult central nervous system germinoma DOID:7867 NCI:C6840 UMLS_CUI:C1334645 Inverted papilloma of the maxillary sinus disease_ontology DOID:7868 maxillary sinus inverted papilloma DOID:7868 NCI:C27514 UMLS_CUI:C1332220 disease_ontology DOID:7875 adult xanthogranuloma DOID:7875 An atypical polypoid adenomyoma that is located_in the uterine corpus. NCI:C40235 UMLS_CUI:C1519844 disease_ontology DOID:7878 uterine corpus atypical polypoid adenomyoma DOID:7878 An atypical polypoid adenomyoma that is located_in the uterine corpus. url:https://www.ncbi.nlm.nih.gov/pubmed/23590013 An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium. ICDO:8610/0 NCI:C40445 UMLS_CUI:C1517842 leuteoma of pregnancy luteoma of pregnancy disease_ontology DOID:7880 luteoma DOID:7880 An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5641443/ disease_ontology DOID:789 obsolete hypotony of eye associated with another ocular disorder true DOID:789 disease_ontology DOID:7890 obsolete testicular spermatocytic seminoma with sarcoma true DOID:7890 disease_ontology DOID:7891 testicular spermatocytic seminoma DOID:7891 disease_ontology DOID:7892 obsolete breast adenohibernoma true DOID:7892 A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae. ICD10CM:B88.9 ICD9CM:133 MESH:D008924 SNOMEDCT_US_2023_03_01:78166003 UMLS_CUI:C0026229 disease_ontology DOID:7894 mite infestation DOID:7894 A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae. url:http://en.wikipedia.org/wiki/Mite ICD10CM:H44.4 ICD9CM:360.3 MESH:D015814 NCI:C172147 SNOMEDCT_US_2023_03_01:23670006 UMLS_CUI:C0028841 Hypotony of eye disease_ontology DOID:790 ocular hypotension DOID:790 An extraskeletal myxoid chondrosarcoma occurring in adults. DOID:6495 NCI:C7924 UMLS_CUI:C1706731 adult extraosseous chondrosarcoma adult myxoid chondrosarcoma disease_ontology DOID:7902 adult myxoid chondrosarcoma Retired NCI concept. adult extraskeletal myxoid chondrosarcoma DOID:7902 An extraskeletal myxoid chondrosarcoma occurring in adults. url:https://pubmed.ncbi.nlm.nih.gov/35144048/ NCI:C5462 UMLS_CUI:C1334238 disease_ontology DOID:7903 intracranial chondrosarcoma DOID:7903 NCI:C8271 UMLS_CUI:C0280791 disease_ontology DOID:7907 mixed astrocytoma-ependymoma DOID:7907 Disorganized schizophrenia in remission (disorder) Disorganized type schizophrenia, in remission disease_ontology DOID:791 obsolete disorganized schizophrenia in remission true DOID:791 A squamous cell carcinoma that is located_in the maxillary sinus. NCI:C6064 SNOMEDCT_US_2023_03_01:1260080001 UMLS_CUI:C1334647 Epidermoid carcinoma of the Maxillofacial sinus disease_ontology DOID:7910 maxillary sinus squamous cell carcinoma DOID:7910 A squamous cell carcinoma that is located_in the maxillary sinus. url:https://www.ncbi.nlm.nih.gov/pubmed/25674251 MESH:D009837 NCI:C4050 SNOMEDCT_US_2023_03_01:22217002 UMLS_CUI:C0280793 WHO grade II mixed glioma disease_ontology DOID:7912 mixed oligodendroglioma-astrocytoma DOID:7912 NCI:C5296 UMLS_CUI:C1332916 meningioma of the cervical Spinal canal and Spinal Cord disease_ontology DOID:7915 cervical spinal canal and spinal cord meningioma DOID:7915 disease_ontology DOID:7919 obsolete nonmetastatic extra-osseous ewing's sarcoma true DOID:7919 disease_ontology DOID:792 obsolete disorganized schizophrenia true DOID:792 benign soft tissue tumor of CNS disease_ontology DOID:7920 obsolete central nervous system benign soft tissue neoplasm true DOID:7920 A mediastinal neurilemmoma characterized by the presence of psammoma bodies. NCI:C6636 UMLS_CUI:C1332513 benign Psammomatous Schwannoma of mediastinum benign mediastinal psammomatous neurilemmoma disease_ontology DOID:7921 mediastinal psammomatous neurilemmoma DOID:7921 A mediastinal neurilemmoma characterized by the presence of psammoma bodies. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6636 NCI:C6625 benign Schwannoma of mediastinum disease_ontology DOID:7922 Duplicate disease (NCI). obsolete benign mediastinal neurilemmoma true DOID:7922 NCI:C7997 SNOMEDCT_US_2023_03_01:128716004 UMLS_CUI:C0279705 Squamoid Thymoma Thymoma, epithelial Well differentiated thymic carcinoma disease_ontology DOID:7926 epithelial malignant thymoma DOID:7926 NCI:C7999 SNOMEDCT_US_2023_03_01:128708008 UMLS_CUI:C0279707 Thymoma, medullary, malignant disease_ontology DOID:7927 malignant type A thymoma DOID:7927 NCI:C9077 UMLS_CUI:C1377904 Refractory testicular carcinoma disease_ontology DOID:7928 testis refractory cancer DOID:7928 Schizophrenia in remission (disorder) Unspecified schizophrenia, in remission disease_ontology DOID:793 obsolete schizophrenia in remission true DOID:793 NCI:C39926 UMLS_CUI:C1515305 disease_ontology DOID:7930 glandular-alveolar pattern testicular yolk sac tumor DOID:7930 Old Burn Scar-Related squamous cell carcinoma of the skin disease_ontology DOID:7931 obsolete old burn scar-related squamous cell carcinoma of skin true DOID:7931 disease_ontology DOID:7933 obsolete childhood precursor T-lymphoblastic lymphoma/leukemia true DOID:7933 NCI:C8696 UMLS_CUI:C0854859 precursor T-lymphoblastic lymphoma/leukemia refractory disease_ontology DOID:7936 refractory T lymphoblastic leukemia/lymphoma DOID:7936 Dyschondroplasia Dyschondroplasia (disorder) Dyschondroplasia NOS (disorder) disease_ontology DOID:7938 obsolete dyschondroplasia true DOID:7938 Residual schizophrenia in remission (disorder) Residual schizophrenia, in remission disease_ontology DOID:794 obsolete residual schizophrenia in remission true DOID:794 NCI:C7027 UMLS_CUI:C1332460 Barrett adenocarcinoma adenocarcinoma Arising in Barrett's Mucosa disease_ontology DOID:7941 Barrett's adenocarcinoma DOID:7941 A central nervous system adult germ cell tumor that develops from misfolding and misplacement of embryonic cells into the lateral mesoderm, causing these cells to become entrapped in different areas of the brain, has_material_basis_in abnormally proliferating cells derives_from germ cells. NCI:C27402 UMLS_CUI:C1332195 disease_ontology DOID:7945 adult central nervous system mixed germ cell tumor DOID:7945 A central nervous system adult germ cell tumor that develops from misfolding and misplacement of embryonic cells into the lateral mesoderm, causing these cells to become entrapped in different areas of the brain, has_material_basis_in abnormally proliferating cells derives_from germ cells. url:https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq recurrent colon carcinoma disease_ontology DOID:7946 obsolete recurrent cancer of colon true DOID:7946 NCI:C42060 UMLS_CUI:C1516761 disease_ontology DOID:7949 stroma-dominant and stroma-poor composite ganglioneuroblastoma DOID:7949 Residual schizophrenia Residual schizophrenia (disorder) Residual schizophrenia, unspecified state Residual type schizophrenic disorder Restzustand, schizophrenic disease_ontology DOID:795 obsolete residual type schizophrenia true DOID:795 NCI:C42059 UMLS_CUI:C1516760 disease_ontology DOID:7951 Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma DOID:7951 A nipple carcinoma that is located_in the nipple duct. NCI:C27234 UMLS_CUI:C1334967 disease_ontology DOID:7953 nipple duct carcinoma DOID:7953 A nipple carcinoma that is located_in the nipple duct. url:http://www.cancer.gov/dictionary?CdrID=45963 An Epstein-Barr virus related lymphoma and is_a posttransplantation lymphoproliferative disorder that derives_from lymphocytes after organ transplant, has_material_basis_in Human herpesvirus 4. DOID:7828 EBV Related Clonal PTLD EBV-related PTLD Epstein-Barr virus related posttransplantation lymphoproliferative disorder disease_ontology DOID:7956 obsolete EBV-related posttransplantation lymphoproliferative disease true DOID:7956 An Epstein-Barr virus related lymphoma and is_a posttransplantation lymphoproliferative disorder that derives_from lymphocytes after organ transplant, has_material_basis_in Human herpesvirus 4. url:http://lymphoma.about.com/od/riskfactors/qt/ebvlymphoma.htm NCI:C6984 UMLS_CUI:C1335923 sarcomatous carcinoma of the penis disease_ontology DOID:7958 sarcomatoid penile squamous cell carcinoma DOID:7958 NCI:C5731 SNOMEDCT_US_2023_03_01:879992009 UMLS_CUI:C1333321 Gastrinoma of duodenum duodenal G-cell gastrin producing tumor malignant duodenal gastrinoma disease_ontology DOID:7959 duodenal gastrinoma DOID:7959 NCI:C5117 SNOMEDCT_US_2023_03_01:403942003 UMLS_CUI:C1266063 malignant eccrine spiradenoma disease_ontology DOID:7960 malignant spiradenoma DOID:7960 A cervical squamous cell carcinoma that is characterized by polygonal squamous cells growing in sheets or nests but keratin pearls are not present. NCI:C40188 UMLS_CUI:C1518366 disease_ontology DOID:7961 cervical non-keratinizing squamous cell carcinoma DOID:7961 A cervical squamous cell carcinoma that is characterized by polygonal squamous cells growing in sheets or nests but keratin pearls are not present. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3702072/ An endometrial disease that is caused by tamoxifen exposure. NCI:C40159 UMLS_CUI:C1515212 disease_ontology DOID:7962 tamoxifen-related endometrial lesion DOID:7962 An endometrial disease that is caused by tamoxifen exposure. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC494940/ disease_ontology DOID:7966 obsolete type 3 ALPS true DOID:7966 NCI:C39828 UMLS_CUI:C1512738 disease_ontology DOID:7967 lipid-cell variant infiltrating bladder urothelial carcinoma DOID:7967 NCI:C39823 UMLS_CUI:C1512742 disease_ontology DOID:7968 plasmacytoid variant infiltrating bladder urothelial carcinoma DOID:7968 NCI:C39819 UMLS_CUI:C1512741 disease_ontology DOID:7969 nested variant infiltrating bladder urothelial carcinoma DOID:7969 NCI:C39820 UMLS_CUI:C1512740 disease_ontology DOID:7971 microcystic variant infiltrating bladder urothelial carcinoma DOID:7971 NCI:C39822 UMLS_CUI:C1512739 disease_ontology DOID:7972 lymphoma-like variant infiltrating bladder urothelial carcinoma DOID:7972 disease_ontology DOID:7979 obsolete helicobacter pylori-related gastric adenocarcinoma true DOID:7979 A breast cancer that arises_from cutaneous sweat glands and is characterized by a focus of benign spiradenoma within or adjacent to the malignant tumor, as evidenced by increased mitotic rate, necrosis, nuclear atypia, pleomorphism, and hyperchromasia, loss of nested and trabecular growth patterns, and absence of a dual cell population. NCI:C5180 UMLS_CUI:C1334565 malignant Eccrine Spiradenoma of the breast disease_ontology DOID:7983 breast malignant eccrine spiradenoma DOID:7983 A breast cancer that arises_from cutaneous sweat glands and is characterized by a focus of benign spiradenoma within or adjacent to the malignant tumor, as evidenced by increased mitotic rate, necrosis, nuclear atypia, pleomorphism, and hyperchromasia, loss of nested and trabecular growth patterns, and absence of a dual cell population. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601958/ url:https://www.ncbi.nlm.nih.gov/pubmed/10770427 A breast duct papilloma that is characterized by a central area of scarring and elastosis, derived from an obliterated duct. NCI:C27944 UMLS_CUI:C1335932 disease_ontology DOID:7984 sclerosing breast papilloma DOID:7984 A breast duct papilloma that is characterized by a central area of scarring and elastosis, derived from an obliterated duct. url:http://www.archivesofpathology.org/doi/full/10.5858/arpa.2015-0525-RA?code=coap-site#_i51 url:https://www.ncbi.nlm.nih.gov/pubmed/25650849 NCI:C5267 UMLS_CUI:C1333597 Falcine meningioma disease_ontology DOID:7986 cerebral falx meningioma DOID:7986 A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin. ICD10CM:I83.90 MESH:D014648 MIM:192200 NCI:C35114 SNOMEDCT_US_2023_03_01:276504003 UMLS_CUI:C0042345 Varix Venous ectasia Venous varices varices disease_ontology DOID:799 varicose veins DOID:799 A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin. url:http://www.nlm.nih.gov/medlineplus/varicoseveins.html url:https://www.nhlbi.nih.gov/health/health-topics/topics/vv/ NCI:C7002 UMLS_CUI:C1335150 disease_ontology DOID:7994 central nervous system osteosarcoma DOID:7994 NCI:C5350 UMLS_CUI:C1333987 disease_ontology DOID:7996 familial glomangioma DOID:7996 A thyroid gland disease that is characterized by excess thyroid hormone. ICD10CM:E05.9 ICD9CM:242 MESH:D013971 NCI:C61469 SNOMEDCT_US_2023_03_01:154655004 UMLS_CUI:C0040156 disease_ontology DOID:7997 OMIM mapping confirmed by DO. [LS]. thyrotoxicosis DOID:7997 A thyroid gland disease that is characterized by excess thyroid hormone. url:https://www.ncbi.nlm.nih.gov/pubmed/22394559 A thyroid gland disease that involves an over production of thyroid hormone. ICD10CM:E05.9 MESH:D006980 NCI:C113145 NCI:C3123 SNOMEDCT_US_2023_03_01:190239004 UMLS_CUI:C0020550 UMLS_CUI:C3714618 overactive thyroid disease_ontology DOID:7998 Xref MGI. hyperthyroidism MESH:D006980 DOID:7998 A thyroid gland disease that involves an over production of thyroid hormone. url:https://www.niddk.nih.gov/health-information/endocrine-diseases/hyperthyroidism NCI:C5292 UMLS_CUI:C1333643 disease_ontology DOID:8000 frontal convexity meningioma DOID:8000 NCI:C6793 SNOMEDCT_US_2023_03_01:126697005 UMLS_CUI:C0345726 Supraglottic tumor neoplasm of supraglottis disease_ontology DOID:8002 supraglottis neoplasm DOID:8002 NCI:C4140 SNOMEDCT_US_2023_03_01:8097004 UMLS_CUI:C0334303 Alveolar adenoma adenoma of alveoli disease_ontology adenoma of the alveoli DOID:8003 alveoli adenoma DOID:8003 disease_ontology DOID:8004 obsolete ovarian dermoid cyst with prolactin secreting adenoma true DOID:8004 disease_ontology DOID:8005 obsolete ovarian dermoid cyst with secondary pituitary-type tumor true DOID:8005 NCI:C5277 UMLS_CUI:C1335481 primary meningioma of the skin disease_ontology DOID:8006 skin meningioma DOID:8006 DOID:4485 DOID:5762 MESH:D010178 NCI:C27710 NCI:C55815 NCI:C7527 SNOMEDCT_US_2023_03_01:269562004 SNOMEDCT_US_2023_03_01:278065000 UMLS_CUI:C0030271 UMLS_CUI:C0549471 UMLS_CUI:C1335574 Pancoast tumour Pancoast's syndrome Pancoast's tumour Superior pulmonary sulcus syndrome malignant Superior Sulcus tumor malignant Superior Sulcus tumour pulmonary sulcus tumor pulmonary sulcus tumour disease_ontology DOID:8007 Pancoast tumor DOID:8007 NCI:C39959 UMLS_CUI:C1513369 disease_ontology DOID:8009 penis mixed squamous cell carcinoma DOID:8009 DOID:12025 DOID:13059 DOID:13646 DOID:13933 DOID:14242 DOID:800 DOID:953 ICD10CM:M25.0 ICD9CM:719.1 MESH:D006395 SNOMEDCT_US_2023_03_01:156581006 UMLS_CUI:C0018924 Haemarthrosis of shoulder joint Haemarthrosis of the ankle and foot Haemarthrosis of the pelvic region and thigh Hemarthrosis involving ankle and foot Hemarthrosis involving forearm Hemarthrosis involving hand Hemarthrosis involving lower leg Hemarthrosis involving pelvic region and thigh Hemarthrosis involving shoulder region Hemarthrosis involving upper arm Hemarthrosis of ankle and/or foot Hemarthrosis of forearm Hemarthrosis of hand Hemarthrosis of lower leg Hemarthrosis of shoulder Hemarthrosis of shoulder region Hemarthrosis of the ankle and foot Hemarthrosis of the ankle and/or foot Hemarthrosis of the forearm Hemarthrosis of the hand Hemarthrosis of the lower leg Hemarthrosis of the pelvic region and thigh Hemarthrosis of the shoulder region Hemarthrosis of the upper arm Hemarthrosis of upper arm disease_ontology DOID:801 hemarthrosis DOID:801 disease_ontology DOID:8011 obsolete metastatic fibrosarcoma true DOID:8011 NCI:C6744 UMLS_CUI:C1334638 Mature teratoma of Pericardium disease_ontology DOID:8012 benign pericardial teratoma DOID:8012 A papillary carcinoma that is located_in the penis. NCI:C6983 UMLS_CUI:C1335322 squamous carcinoma of penis, Papillary type disease_ontology DOID:8013 penis papillary carcinoma DOID:8013 A papillary carcinoma that is located_in the penis. url:https://www.ncbi.nlm.nih.gov/pubmed/22367299 disease_ontology DOID:8014 obsolete ovarian dermoid cyst with corticotropin secreting adenoma true DOID:8014 anaplastic ganglioglioma anaplastic ganglioglioma (morphologic abnormality) ganglioglioma, anaplastic (morphologic abnormality) disease_ontology DOID:8016 obsolete anaplastic ganglioglioma true DOID:8016 regional Urothelial carcinoma of the renal Pelvis and Ureter disease_ontology DOID:8018 obsolete renal pelvis and ureter regional transitional cell cancer true DOID:8018 recurrent Urothelial carcinoma of the renal Pelvis and Ureter disease_ontology DOID:8019 obsolete renal pelvis and ureter recurrent transitional cell cancer true DOID:8019 ICDO:8713/0 NCI:C4223 SNOMEDCT_US_2023_03_01:189745002 UMLS_CUI:C0334422 disease_ontology DOID:8020 glomangiomyoma DOID:8020 Parafollicular cell carcinoma with Amyloid Stroma disease_ontology DOID:8021 obsolete medullary carcinoma with amyloid stroma true DOID:8021 A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver. NCI:C5832 UMLS_CUI:C1333966 disease_ontology DOID:8022 liver fibrosarcoma DOID:8022 A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver. url:http://en.wikipedia.org/wiki/Fibrosarcoma A myxoid liposarcoma that is located_in the ovary. NCI:C5235 UMLS_CUI:C1335170 Myxoid Liposarcoma of Ovary disease_ontology DOID:8023 myxoid liposarcoma of the ovary DOID:8023 A myxoid liposarcoma that is located_in the ovary. url:https://www.ncbi.nlm.nih.gov/pubmed/20407326 disease_ontology Tuberculosis of male genital organs DOID:8024 obsolete male genital tuberculosis true DOID:8024 NCI:C5250 UMLS_CUI:C1335965 Signet Ring cell adenocarcinoma of the stomach disease_ontology DOID:8025 gastric signet ring cell adenocarcinoma DOID:8025 gastric intestinal type adenocarcinoma disease_ontology DOID:8026 obsolete intestinal adenocarcinoma of the stomach true DOID:8026 A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer. NCI:C7566 UMLS_CUI:C1336076 disease_ontology DOID:8029 sporadic breast cancer DOID:8029 A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/sporadic-cancer NCI:C6777 UMLS_CUI:C1335383 disease_ontology DOID:8030 periocular meningioma DOID:8030 NCI:C6756 UMLS_CUI:C1335418 Pineal meningioma disease_ontology DOID:8031 pineal region meningioma DOID:8031 An ovarian embryonal carcinoma that occurs in childhood. NCI:C6546 UMLS_CUI:C1332989 pediatric Embryonal carcinoma of Ovary disease_ontology childhood embryonal carcinoma of the ovary DOID:8036 childhood ovarian embryonal carcinoma DOID:8036 An ovarian embryonal carcinoma that occurs in childhood. url:http://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma NCI:C40962 UMLS_CUI:C1514200 Polyembryoma of testis disease_ontology DOID:8042 testis polyembryoma DOID:8042 A parachordoma arising from the chest wall. NCI:C6720 UMLS_CUI:C1332934 Parachordoma of the Chest Wall disease_ontology DOID:8043 chest wall parachordoma DOID:8043 A parachordoma arising from the chest wall. url:https://pubmed.ncbi.nlm.nih.gov/24135242/ recurrent prostate carcinoma disease_ontology DOID:8045 obsolete recurrent cancer of prostate true DOID:8045 NCI:C39847 UMLS_CUI:C1511203 disease_ontology DOID:8050 bladder tubulo-cystic clear cell adenocarcinoma DOID:8050 NCI:C39848 UMLS_CUI:C1511196 disease_ontology DOID:8051 bladder papillary clear cell adenocarcinoma DOID:8051 A cancer of urethra that has recurred after it has been treated. The cancer may come back in the urethra or in other parts of the body. relapsed urethra carcinoma disease_ontology DOID:8055 obsolete recurrent urethral cancer true DOID:8055 A cancer of urethra that has recurred after it has been treated. The cancer may come back in the urethra or in other parts of the body. url:http://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient/page3 MESH:D008579 NCI:C6771 UMLS_CUI:C1335107 meningioma of the Olfactory Groove disease_ontology DOID:8057 olfactory groove meningioma DOID:8057 NCI:C5311 UMLS_CUI:C1335422 meningioma of the Pituitary Stalk disease_ontology DOID:8058 pituitary stalk meningioma DOID:8058 NCI:C6842 UMLS_CUI:C1333644 Inverted papilloma of the Frontal sinus disease_ontology DOID:8060 frontal sinus inverted papilloma DOID:8060 A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in small ducts. NCI:C40387 UMLS_CUI:C1512935 disease_ontology DOID:8068 intraductal breast myoepitheliosis DOID:8068 A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in small ducts. url:https://www.ncbi.nlm.nih.gov/pubmed/1709559 ICD9CM:433.10 UMLS_CUI:C0375275 Occlusion and stenosis of carotid artery disease_ontology DOID:807 carotid artery occlusion DOID:807 NCI:C41620 UMLS_CUI:C1519184 disease_ontology DOID:8072 sarcomatous intrahepatic cholangiocarcinoma DOID:8072 NCI:C27406 UMLS_CUI:C1332953 disease_ontology DOID:8078 childhood central nervous system germinoma DOID:8078 disease_ontology DOID:8079 obsolete monomorphic T-cell PTLD true DOID:8079 disease_ontology DOID:8080 obsolete ovarian mucinous cystic tumor associated with pseudomyxoma peritonei true DOID:8080 NCI:C39929 UMLS_CUI:C1515309 disease_ontology DOID:8081 myxomatous pattern testicular yolk sac tumor DOID:8081 NCI:C39815 SNOMEDCT_US_2023_03_01:405941007 UMLS_CUI:C1320471 disease_ontology DOID:8082 cellular congenital mesoblastic nephroma DOID:8082 NCI:C39814 UMLS_CUI:C1516475 disease_ontology DOID:8083 classic congenital mesoblastic nephroma DOID:8083 A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillary tumors with a transitional differentiation. disease_ontology DOID:8084 obsolete cervical squamotransitional carcinoma true DOID:8084 A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause papillary tumors with a transitional differentiation. url:http://books.google.com/books?id=ab545XL-MBEC&pg=PA245&lpg#v=onepage&q&f=false disease_ontology DOID:8087 obsolete ovarian dermoid cyst with sebaceous carcinoma true DOID:8087 Advanced adult primary Hepatocellular carcinoma disease_ontology DOID:8089 obsolete advanced adult primary hepatoma true DOID:8089 A substance abuse that involves the recurring use of cocaine despite negative consequences. ICD10CM:F14.1 ICD9CM:305.6 MESH:D019970 SNOMEDCT_US_2023_03_01:78267003 UMLS_CUI:C0009171 disease_ontology DOID:809 cocaine abuse DOID:809 A substance abuse that involves the recurring use of cocaine despite negative consequences. url:http://en.wikipedia.org/wiki/Cocaine_Abuse NCI:C6839 UMLS_CUI:C1334646 Schneiderian papilloma of the maxillary sinus disease_ontology DOID:8093 maxillary sinus Schneiderian papilloma DOID:8093 A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause warty malignant tumors in squamous epithelium of cervix. cervical Warty squamous cell carcinoma disease_ontology DOID:8094 obsolete cervical condylomatous squamous cell carcinoma true DOID:8094 A human papilloma virus related cervical squamous cell carcinoma that results_in infection located_in cervix, has_material_basis_in human papillomavirus (types 16 or 18), which cause warty malignant tumors in squamous epithelium of cervix. url:http://books.google.com/books?id=73QOP6Xqh6EC&pg=PA135&lpg#v=onepage&q&f=false url:https://www.ncbi.nlm.nih.gov/pubmed/12685182 NCI:C39839 UMLS_CUI:C1511192 disease_ontology DOID:8096 bladder mixed adenocarcinoma DOID:8096 NCI:C39838 UMLS_CUI:C1511189 disease_ontology DOID:8097 bladder hepatoid adenocarcinoma DOID:8097 A lipodystrophy and is_a Human immunodeficiency virus infectious disease that is characterized by loss of subcutaneous fat, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. Anti-retroviral medications are also associated with the disease. The infection has_symptom fat loss in face, buttocks, arms, legs. disease_ontology DOID:810 obsolete HIV-associated lipodystrophy syndrome true DOID:810 A lipodystrophy and is_a Human immunodeficiency virus infectious disease that is characterized by loss of subcutaneous fat, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. Anti-retroviral medications are also associated with the disease. The infection has_symptom fat loss in face, buttocks, arms, legs. url:http://en.wikipedia.org/wiki/Hiv-associated_lipodystrophy_syndrome NCI:C4160 SNOMEDCT_US_2023_03_01:30301008 UMLS_CUI:C0334328 Microfollicular adenoma disease_ontology DOID:8102 fetal adenoma DOID:8102 A vaginal adenoma that is a polyp that resembles colorectal tubulovillous adenoma. DOID:6809 NCI:C40258 UMLS_CUI:C1519933 vaginal tubular adenoma disease_ontology DOID:8104 vaginal tubulovillous adenoma DOID:8104 A vaginal adenoma that is a polyp that resembles colorectal tubulovillous adenoma. url:https://www.ncbi.nlm.nih.gov/pubmed/23202776 url:https://www.ncbi.nlm.nih.gov/pubmed/25672089 A bile duct cystadenoma located_in an extrahepatic bile duct. NCI:C5851 UMLS_CUI:C1333504 Cystadenoma of the extrahepatic bile duct disease_ontology DOID:8105 extrahepatic bile duct cystadenoma DOID:8105 A bile duct cystadenoma located_in an extrahepatic bile duct. url:https://pubmed.ncbi.nlm.nih.gov/25830005/ NCI:C41237 UMLS_CUI:C1516553 disease_ontology DOID:8106 cellular phase chronic idiopathic myelofibrosis DOID:8106 disease_ontology DOID:8107 obsolete S-T syndrome true DOID:8107 NCI:C6170 UMLS_CUI:C1336884 urethral Fibroepithelial polyp disease_ontology DOID:8108 fibroepithelial polyp of urethra DOID:8108 NCI:C7416 UMLS_CUI:C1336889 Nephrogenic adenoma of urethra disease_ontology DOID:8109 nephrogenic adenoma of the urethra DOID:8109 A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue. ICD10CM:E88.1 ICD9CM:272.6 MESH:D008060 NCI:C97093 SNOMEDCT_US_2023_03_01:190789006 UMLS_CUI:C0023787 disease_ontology DOID:811 lipodystrophy DOID:811 A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/25690482 url:https://www.ncbi.nlm.nih.gov/pubmed/25833179 NCI:C27322 UMLS_CUI:C1335377 disease_ontology DOID:8110 periampullary adenocarcinoma DOID:8110 disease_ontology DOID:8115 obsolete recurrent childhood cerebral astrocytoma true DOID:8115 A central nervous system disease that is characterized by neuron inflammation. NCI:C34847 UMLS_CUI:C0027881 disease_ontology DOID:8117 neuronitis DOID:8117 A central nervous system disease that is characterized by neuron inflammation. url:https://en.wikipedia.org/wiki/Neuroinflammation A mature teratoma that has_material_basis_in gastric tissue. NCI:C5260 UMLS_CUI:C1334635 Mature teratoma of stomach disease_ontology DOID:8118 mature gastric teratoma DOID:8118 A mature teratoma that has_material_basis_in gastric tissue. url:https://www.ncbi.nlm.nih.gov/pubmed/22953284 NCI:C7477 SNOMEDCT_US_2023_03_01:236811000119101 UMLS_CUI:C1332261 Paget's disease of the anal canal anal canal Paget disease disease_ontology Paget's disease of anal canal DOID:8119 anal canal Paget's disease DOID:8119 adenocarcinoma in villous adenoma (morphologic abnormality) villous adenoma or adenocarcinoma NOS (morphologic abnormality) villous adenomas and adenocarcinomas (morphologic abnormality) disease_ontology DOID:8120 obsolete adenocarcinoma in villous adenoma true DOID:8120 metastatic extraskeletal Ewing's sarcoma disease_ontology DOID:8121 obsolete metastatic extra-osseous Ewing's sarcoma true DOID:8121 NCI:C27542 UMLS_CUI:C1335974 disease_ontology DOID:8122 pseudovascular skin squamous cell carcinoma DOID:8122 An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. DOID:7490 ICD10CM:M92 ICD10CM:M93.9 ICD9CM:732.6 MESH:D055034 NCI:C34879 SNOMEDCT_US_2023_03_01:203398006 SNOMEDCT_US_2023_03_01:65477003 UMLS_CUI:C0029429 UMLS_CUI:C0158445 Epiphyseal necrosis apophysitis epiphysitis osteochondritis osteochondritis juvenilis disease_ontology DOID:8125 osteochondrosis DOID:8125 An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. url:http://medical-dictionary.thefreedictionary.com/osteochondrosis An arthritis that involves infection by a pathogen located_in joint. DOID:10920 DOID:12314 DOID:14519 DOID:1683 DOID:2002 DOID:2003 DOID:812 GARD:6781 ICD10CM:M00 ICD9CM:711.90 ICD9CM:711.91 ICD9CM:711.92 ICD9CM:711.93 ICD9CM:711.94 ICD9CM:711.95 ICD9CM:711.96 ICD9CM:711.97 MESH:D001170 NCI:C26700 SNOMEDCT_US_2023_03_01:201594004 SNOMEDCT_US_2023_03_01:201595003 SNOMEDCT_US_2023_03_01:201596002 SNOMEDCT_US_2023_03_01:201597006 SNOMEDCT_US_2023_03_01:201598001 SNOMEDCT_US_2023_03_01:201599009 SNOMEDCT_US_2023_03_01:372938004 SNOMEDCT_US_2023_03_01:428437005 UMLS_CUI:C0003869 UMLS_CUI:C0157843 UMLS_CUI:C0157844 UMLS_CUI:C0157845 UMLS_CUI:C0157846 UMLS_CUI:C0157847 UMLS_CUI:C0157848 UMLS_CUI:C0157849 infectious arthritis disease_ontology DOID:813 septic arthritis DOID:813 An arthritis that involves infection by a pathogen located_in joint. url:http://en.wikipedia.org/wiki/Septic_arthritis url:http://www.hmc.psu.edu/healthinfo/s/septicarthritis.htm url:http://www.mayoclinic.com/health/bone-and-joint-infections/DS00545 url:http://www.nlm.nih.gov/medlineplus/ency/article/000430.htm A breast mucinous carcinoma that is characterized by tall columnar cells with basal, bland nuclei, intracytoplasmic and extracytoplasmic mucin and is grossly solid. DOID:5996 NCI:C40355 UMLS_CUI:C1511305 Columnar Cell Change of the Breast blunt duct adenosis of breast disease_ontology DOID:8130 breast columnar cell mucinous carcinoma DOID:8130 A breast mucinous carcinoma that is characterized by tall columnar cells with basal, bland nuclei, intracytoplasmic and extracytoplasmic mucin and is grossly solid. url:http://www.pathologyoutlines.com/topic/breastmalignantmucinouscystadenocarcinoma.html url:https://www.ncbi.nlm.nih.gov/pubmed/29658333 disease_ontology DOID:8131 obsolete sclerosing mucoepidermoid thyroid carcinoma with eosinophilia true DOID:8131 DOID:8132 DOID:8896 ICD10CM:C10.1 ICD9CM:146.4 NCI:C35697 NCI:C4836 SNOMEDCT_US_2023_03_01:187849008 SNOMEDCT_US_2023_03_01:93670003 UMLS_CUI:C0496765 UMLS_CUI:C0585946 UMLS_CUI:C1112382 epiglottic cancer malignant tumor of Epiglottis disease_ontology DOID:8133 epiglottis cancer DOID:8133 NCI:C5734 UMLS_CUI:C1333748 Lymphoma of the gallbladder disease_ontology DOID:8135 gallbladder lymphoma DOID:8135 ureteral transitional cell carcinoma with mixed differentiation disease_ontology DOID:8136 obsolete transitional cell carcinoma of the ureter with mixed differentiation true DOID:8136 NCI:C6462 UMLS_CUI:C1333069 Clear cell carcinoma of the Thymus disease_ontology DOID:8137 thymus clear cell carcinoma DOID:8137 NCI:C6463 UMLS_CUI:C1335924 Thymic Carcinosarcoma disease_ontology DOID:8138 thymus sarcomatoid carcinoma DOID:8138 NCI:C7646 UMLS_CUI:C1332176 disease_ontology DOID:8140 adrenal gland ganglioneuroblastoma DOID:8140 NCI:C37204 UMLS_CUI:C1333038 CLL/SLL with Unmutated IGVH disease_ontology DOID:8144 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma DOID:8144 metastatic tumor to the gallbladder secondary malignant neoplasm of gallbladder (disorder) disease_ontology DOID:8145 obsolete metastatic neoplasm to the gallbladder true DOID:8145 Undifferentiated secondary Supratentorial astrocytoma disease_ontology DOID:8146 obsolete anaplastic secondary supratentorial astrocytic neoplasm true DOID:8146 recurrent childhood malignant germ cell neoplasm disease_ontology DOID:8148 obsolete recurrent childhood malignant germ cell tumor true DOID:8148 NCI:C6541 UMLS_CUI:C1334574 malignant pediatric germ cell tumor disease_ontology DOID:8149 malignant childhood germ cell neoplasm DOID:8149 NCI:C5726 SNOMEDCT_US_2023_03_01:780821007 UMLS_CUI:C1518871 disease_ontology DOID:8150 pancreatic invasive intraductal papillary-mucinous carcinoma DOID:8150 NCI:C27445 UMLS_CUI:C3274138 appendiceal L-cell glucagon-like peptide producing tumour malignant appendiceal L-cell glucagon-like peptide producing tumor malignant appendiceal L-cell glucagon-like peptide producing tumour malignant appendiceal glucagonoma disease_ontology DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor DOID:8151 adenocarcinoma of the Distal 1/3 of the Common bile duct disease_ontology DOID:8152 obsolete distal 1/3 of common bile duct adenocarcinoma true DOID:8152 NCI:C6573 UMLS_CUI:C1333612 Fibroosseous Digital Pseudotumor disease_ontology DOID:8153 fibroosseous pseudotumor of digits DOID:8153 A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system. MESH:C537005 MIM:609536 NCI:C9469 ORDO:169150 C5 deficiency disease_ontology DOID:8158 OMIM mapping confirmed by DO. [SN]. complement component 5 deficiency DOID:8158 A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system. url:http://omim.org/entry/609536 url:https://ghr.nlm.nih.gov/gene/C5 A desmoplastic small round-cell tumor that primarily is located_in the abdomen. disease_ontology DOID:8160 obsolete adult desmoplastic small round cell tumor true DOID:8160 A desmoplastic small round-cell tumor that primarily is located_in the abdomen. url:http://en.wikipedia.org/wiki/Desmoplastic_small_round_cell_tumor A thyroid gland follicular carcinoma that is characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. ICDO:8290/3 MESH:C536913 MIM:607464 NCI:C4946 SNOMEDCT_US_2023_03_01:423158009 UMLS_CUI:C0749424 Oncocytic (Hurthle-cell) carcinoma Thyroid Gland Oncocytic Carcinoma thyroid gland Hurthle cell carcinoma disease_ontology DOID:8161 OMIM mapping confirmed by DO. [LS]. oncocytic carcinoma of the thyroid DOID:8161 A thyroid gland follicular carcinoma that is characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4946 NCI:C6042 UMLS_CUI:C1336750 benign oncocytoma of the thyroid disease_ontology DOID:8162 thyroid Hurthle cell adenoma DOID:8162 gallbladder carcinoma Unresectable disease_ontology DOID:8163 obsolete gallbladder cancer unresectable true DOID:8163 NCI:C5735 UMLS_CUI:C1333749 malignant melanoma of gallbladder disease_ontology DOID:8167 gallbladder melanoma DOID:8167 NCI:C35786 SNOMEDCT_US_2023_03_01:37925008 UMLS_CUI:C0027060 disease_ontology DOID:817 interstitial myocarditis DOID:817 NCI:C5604 Fibroepithelial polyp of anus disease_ontology DOID:8170 fibroepithelial polyp of the anus DOID:8170 A cervical adenomyoma that is located_in the endocervix and is characterized by a well circumscribed neoplasm composed of irregularly shaped, benign endocervical-type glands, admixed with myomatous smooth muscle. NCI:C40232 UMLS_CUI:C1516405 disease_ontology DOID:8177 endocervical type cervical adenomyoma DOID:8177 A cervical adenomyoma that is located_in the endocervix and is characterized by a well circumscribed neoplasm composed of irregularly shaped, benign endocervical-type glands, admixed with myomatous smooth muscle. url:http://www.pathologyoutlines.com/topic/cervixadenomyoma.html url:https://www.ncbi.nlm.nih.gov/pubmed/23805464 A cervical adenomyoma that is characterized by glands and cysts lined by a single layer of endocervical-type mucinous epithelium admixed with smooth muscle. NCI:C40233 UMLS_CUI:C5557432 disease_ontology DOID:8178 endometrial type cervical adenomyoma DOID:8178 A cervical adenomyoma that is characterized by glands and cysts lined by a single layer of endocervical-type mucinous epithelium admixed with smooth muscle. url:https://www.ncbi.nlm.nih.gov/pubmed/8685218 A cervical adenomyoma that is tumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma. NCI:C40234 UMLS_CUI:C1516409 disease_ontology DOID:8179 cervical atypical polypoid adenomyoma DOID:8179 A cervical adenomyoma that is tumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma. url:https://www.ncbi.nlm.nih.gov/pubmed/23805464 A gestational choriocarcinoma that is located_in the fallopian tube. NCI:C6278 UMLS_CUI:C1333593 Gestational Choriocarcinoma of the fallopian tube disease_ontology DOID:8186 fallopian tube gestational choriocarcinoma DOID:8186 A gestational choriocarcinoma that is located_in the fallopian tube. url:https://www.ncbi.nlm.nih.gov/pubmed/24219747 A gestational choriocarcinoma that is located_in the uterine corpus. disease_ontology DOID:8187 gestational uterine corpus choriocarcinoma DOID:8187 A gestational choriocarcinoma that is located_in the uterine corpus. url:https://radiopaedia.org/articles/gestational-choriocarcinoma url:https://www.ncbi.nlm.nih.gov/pubmed/16114202 A choriocarcinoma that is located_in the uterine corpus. NCI:C27246 UMLS_CUI:C1336904 disease_ontology DOID:8188 uterine corpus choriocarcinoma DOID:8188 A choriocarcinoma that is located_in the uterine corpus. url:https://www.ncbi.nlm.nih.gov/pubmed/16720931 A connective tissue disease characterized by inflammation located_in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities. ICD10CM:J98.51 ICD9CM:519.2 MESH:D008480 NCI:C26827 SNOMEDCT_US_2023_03_01:47597000 UMLS_CUI:C0025064 disease_ontology DOID:819 mediastinitis DOID:819 A connective tissue disease characterized by inflammation located_in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities. url:http://www.clinicalradiologyonline.net/article/S0009-9260(04)00002-9/fulltext recurrent Vulvar carcinoma disease_ontology DOID:8192 obsolete recurrent vulva cancer true DOID:8192 NCI:C39928 UMLS_CUI:C1515310 disease_ontology DOID:8193 papillary pattern testicular yolk sac tumor DOID:8193 recurrent pediatric Hepatocellular carcinoma disease_ontology DOID:8194 obsolete recurrent pediatric hepatoma true DOID:8194 NCI:C39931 UMLS_CUI:C1515306 disease_ontology DOID:8195 hepatoid pattern testicular yolk sac tumor DOID:8195 disease_ontology DOID:8197 obsolete ovarian dermoid cyst with melanoma true DOID:8197 Syphilis of synovium, tendon or bursa (disorder) Syphilis of synovium, tendon or bursa NOS (disorder) Syphilis of synovium, tendon, and bursa disease_ontology DOID:8199 obsolete bursa syphilis true DOID:8199 A cataract that is characterized by multicolored, iridescent opacification of the lens of the eye, and associated with myotonic dystrophy. ICD9CM:366.43 NCI:C34833 SNOMEDCT_US_2023_03_01:64741003 UMLS_CUI:C0027128 disease_ontology DOID:82 myotonic cataract DOID:82 A cataract that is characterized by multicolored, iridescent opacification of the lens of the eye, and associated with myotonic dystrophy. url:https://www.nature.com/articles/s41433-018-0161-9 url:https://www.ncbi.nlm.nih.gov/pubmed/25037086 An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. GARD:7137 ICD10CM:I51.4 ICD9CM:429.0 KEGG:05416 MESH:D009205 NCI:C34831 SNOMEDCT_US_2023_03_01:50920009 UMLS_CUI:C0027059 Myocardial inflammation disease_ontology DOID:820 myocarditis MESH:D009205 DOID:820 An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. url:http://en.wikipedia.org/wiki/Myocarditis A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems. ICD10CM:A52 ICD9CM:097.0 MESH:C536774 NCI:C128414 SNOMEDCT_US_2023_03_01:72083004 UMLS_CUI:C0153188 late syphilis disease_ontology DOID:8200 tertiary syphilis DOID:8200 A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems. url:https://www.merriam-webster.com/dictionary/tertiary%20syphilis#medicalDictionary NCI:C5299 UMLS_CUI:C1335893 meningioma of the Sacral Spinal canal and Spinal Cord disease_ontology DOID:8203 sacral spinal canal and spinal cord meningioma DOID:8203 disease_ontology DOID:8205 obsolete alloimmunization true DOID:8205 NCI:C7454 UMLS_CUI:C1334445 disease_ontology DOID:8207 hilar lung carcinoma DOID:8207 NCI:C7779 UMLS_CUI:C1336529 Superior Sulcus carcinoma of the lung disease_ontology superior sulcus carcinoma of lung DOID:8208 lung superior sulcus carcinoma DOID:8208 A fallopian tube adenofibroma that is characterized by the presence of cysts and/or cystic spaces. NCI:C40114 UMLS_CUI:C1517111 disease_ontology DOID:8211 fallopian tube cystadenofibroma DOID:8211 A fallopian tube adenofibroma that is characterized by the presence of cysts and/or cystic spaces. url:http://atlasgeneticsoncology.org/Tumors/FallopTubTumID5279.html url:https://www.ncbi.nlm.nih.gov/pubmed/26549083 NCI:C5303 UMLS_CUI:C5421232 Primary Parapharyngeal Meningioma disease_ontology DOID:8216 parapharyngeal meningioma DOID:8216 relapsed epithelioid sarcoma disease_ontology DOID:8219 obsolete recurrent epithelioid sarcoma true DOID:8219 recurrent extraskeletal Ewing's sarcoma disease_ontology DOID:8220 obsolete recurrent extraosseous Ewing's sarcoma true DOID:8220 NCI:C5290 UMLS_CUI:C1336871 meningioma of the Upper Clivus disease_ontology DOID:8221 upper clivus meningioma DOID:8221 adenocarcinoma in tubular adenoma disease_ontology DOID:8222 obsolete adenocarcinoma in tubular adenoma true DOID:8222 NCI:C39868 UMLS_CUI:C1518950 disease_ontology DOID:8223 penile urethral cancer DOID:8223 A breast duct papilloma that is located_in a major duct. DOID:8226 NCI:C36087 UMLS_CUI:C1332896 large duct breast papilloma solitary intraductal breast papilloma disease_ontology DOID:8224 central breast papilloma DOID:8224 A breast duct papilloma that is located_in a major duct. url:https://radiopaedia.org/articles/intraductal-papilloma-of-breast url:https://www.ncbi.nlm.nih.gov/pubmed/21310798 NCI:C36088 UMLS_CUI:C1335390 disease_ontology DOID:8225 microscopic breast papilloma DOID:8225 A breast duct papilloma that is characterized by the presence of cells that are abnormal but are not yet malignant. NCI:C36089 UMLS_CUI:C1332346 disease_ontology DOID:8227 atypical breast papilloma DOID:8227 A breast duct papilloma that is characterized by the presence of cells that are abnormal but are not yet malignant. url:https://www.ncbi.nlm.nih.gov/pubmed/20407326 metastatic extraskeletal Osteogenic sarcoma disease_ontology DOID:8228 obsolete metastatic extraskeletal osteosarcoma true DOID:8228 disease_ontology DOID:8229 obsolete metastatic small intestinal adenocarcinoma true DOID:8229 ICD10CM:K04.5 MESH:D010485 SNOMEDCT_US_2023_03_01:39273001 UMLS_CUI:C0031030 Apical periodontitis disease_ontology DOID:823 periapical periodontitis DOID:823 A biliary papillomatosis located_in an intrahepatic bile duct. NCI:C7125 UMLS_CUI:C1334258 disease_ontology DOID:8230 intrahepatic biliary papillomatosis DOID:8230 A biliary papillomatosis located_in an intrahepatic bile duct. url:https://pubmed.ncbi.nlm.nih.gov/26885145/ NCI:C6508 SNOMEDCT_US_2023_03_01:28655007 UMLS_CUI:C1370890 disease_ontology DOID:8233 inflammatory liposarcoma DOID:8233 relapsed malignant hemangiopericytoma disease_ontology DOID:8234 obsolete malignant hemangiopericytoma recurrent true DOID:8234 stage IV cancer of Uterus disease_ontology DOID:8238 obsolete metastatic endometrial carcinoma true DOID:8238 NCI:C5288 UMLS_CUI:C1334434 meningioma of the lower Clivus disease_ontology DOID:8239 lower clivus meningioma DOID:8239 EFO:0000649 ICD10CM:K05.3 MESH:D010518 NCI:C34918 SNOMEDCT_US_2023_03_01:266491004 UMLS_CUI:C0031099 chronic pericementitis disease_ontology DOID:824 periodontitis DOID:824 A central nervous system melanocytic neoplasm that is characterized as an extra-axial well-encapsulated malignant tumour with diffuse meningeal growth and dark coloration (due to high melanin contents). ICDO:8728/3 NCI:C6891 SNOMEDCT_US_2023_03_01:128731008 UMLS_CUI:C1266114 Leptomeningeal melanomatosis disease_ontology DOID:8243 meningeal melanomatosis DOID:8243 A central nervous system melanocytic neoplasm that is characterized as an extra-axial well-encapsulated malignant tumour with diffuse meningeal growth and dark coloration (due to high melanin contents). url:https://neurosurgery.directory/2020/10/04/diffuse-leptomeningeal-melanocytosis/ recurrent Neuroepithelioma of bone disease_ontology DOID:8244 obsolete bone recurrent PNET true DOID:8244 disease_ontology DOID:8246 obsolete breast myoid hamartoma true DOID:8246 ICDO:8901/3 NCI:C27369 SNOMEDCT_US_2023_03_01:77455004 UMLS_CUI:C1332211 disease_ontology DOID:8251 adult pleomorphic rhabdomyosarcoma DOID:8251 A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding. ICD10CM:J31.0 ICD9CM:472.0 NCI:C34479 SNOMEDCT_US_2023_03_01:155522005 UMLS_CUI:C0008711 Rhinitis - chronic disease_ontology DOID:8252 chronic rhinitis DOID:8252 A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding. url:http://www.merck.com/mmhe/sec19/ch221/ch221g.html?qt=chronic%20rhinitis&alt=sh NCI:C6857 UMLS_CUI:C1336978 Vulval Fibroepithelial polyp disease_ontology DOID:8255 vulva fibroepithelial polyp DOID:8255 disease_ontology DOID:8256 olfactory neural tumor DOID:8256 ureteral transitional cell carcinoma with squamous differentiation disease_ontology DOID:8257 obsolete transitional cell carcinoma of the ureter with squamous differentiation true DOID:8257 NCI:C39869 UMLS_CUI:C1511339 disease_ontology DOID:8259 bulbomembranous urethral cancer DOID:8259 adenocarcinoma in adenomatous polyposis Coli adenocarcinoma in adenomatous polyposis coli (morphologic abnormality) disease_ontology DOID:8269 obsolete adenocarcinoma in adenomatous polyposis coli true DOID:8269 An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures. ICD9CM:016.2 SNOMEDCT_US_2023_03_01:81359005 UMLS_CUI:C0152800 tuberculosis of ureter disease_ontology DOID:827 ureter tuberculosis DOID:827 An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures. url:https://www.ncbi.nlm.nih.gov/pubmed/28087922 A female urethral cancer located_in the anterior urethra. NCI:C7641 UMLS_CUI:C0279930 Anterior urethral malignant tumor disease_ontology DOID:8272 anterior urethra cancer DOID:8272 A female urethral cancer located_in the anterior urethra. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/anterior-urethral-cancer NCI:C6525 UMLS_CUI:C1336546 hemangioma of Synovium disease_ontology DOID:8274 synovial angioma DOID:8274 An embryonal testis carcinoma that is located within a tubule. NCI:C7325 UMLS_CUI:C1336096 disease_ontology DOID:8275 intratubular embryonal carcinoma DOID:8275 An embryonal testis carcinoma that is located within a tubule. url:https://www.ncbi.nlm.nih.gov/pubmed/11900581 Hodgkin's-like PTLD disease_ontology DOID:8276 obsolete Hodgkin-like posttransplantation lymphoproliferative disease true DOID:8276 relapsed MPNST disease_ontology DOID:8281 obsolete recurrent malignant peripheral nerve sheath neoplasm true DOID:8281 NCI:C7944 UMLS_CUI:C0279545 disease_ontology DOID:8282 adult epithelioid sarcoma DOID:8282 A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output. DOID:8694 DOID:8863 DOID:9233 ICD9CM:567.8 SNOMEDCT_US_2023_03_01:197183001 UMLS_CUI:C0029823 Retractile mesenteritis acute generalized peritonitis primary bacterial peritonitis sclerosing mesenteritis disease_ontology DOID:8283 peritonitis DOID:8283 A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output. url:http://www.merck.com/mmpe/sec02/ch011/ch011b.html#sec02-ch011-ch011b-402 url:http://www.nlm.nih.gov/medlineplus/ency/article/001335.htm Non-metastatic epithelioid cell sarcoma disease_ontology DOID:8285 obsolete nonmetastatic epithelioid sarcoma true DOID:8285 metastatic epithelioid cell sarcoma disease_ontology DOID:8286 obsolete metastatic epithelioid sarcoma true DOID:8286 Multiple Chondromatous hamartoma of the lung disease_ontology DOID:8287 obsolete Multiple Chondromatous hamartoma of lung true DOID:8287 NCI:C4459 SNOMEDCT_US_2023_03_01:254652000 UMLS_CUI:C0345978 Clear cell squamous cell carcinoma of skin disease_ontology DOID:8288 clear cell squamous cell skin carcinoma DOID:8288 disease_ontology DOID:8289 obsolete breast adenolipoma true DOID:8289 DOID:10213 DOID:12248 DOID:13796 DOID:14024 DOID:14158 DOID:2008 DOID:2009 DOID:828 Crystal arthropathy NOS, of multiple sites (disorder) Crystal arthropathy NOS, of the ankle and foot (disorder) Crystal arthropathy NOS, of the forearm (disorder) Crystal arthropathy NOS, of the hand (disorder) Crystal arthropathy NOS, of the lower leg (disorder) Crystal arthropathy NOS, of the pelvic region and thigh Crystal arthropathy NOS, of the pelvic region and thigh (disorder) Crystal arthropathy NOS, of the shoulder region (disorder) Crystal arthropathy NOS, of the upper arm (disorder) Crystal arthropathy of ankle and/or foot Crystal arthropathy of ankle and/or foot (disorder) Crystal arthropathy of forearm Crystal arthropathy of forearm (disorder) Crystal arthropathy of hand Crystal arthropathy of hand (disorder) Crystal arthropathy of lower leg Crystal arthropathy of lower leg (disorder) Crystal arthropathy of multiple sites Crystal arthropathy of multiple sites (disorder) Crystal arthropathy of shoulder region Crystal arthropathy of shoulder region (disorder) Crystal arthropathy of upper arm Crystal arthropathy of upper arm (disorder) Unspecified crystal arthropathy involving ankle and foot Unspecified crystal arthropathy involving forearm Unspecified crystal arthropathy involving hand Unspecified crystal arthropathy involving lower leg Unspecified crystal arthropathy involving multiple sites Unspecified crystal arthropathy involving pelvic region and thigh Unspecified crystal arthropathy involving shoulder region Unspecified crystal arthropathy involving upper arm disease_ontology DOID:829 obsolete crystal arthropathy true DOID:829 ICDO:8330/1 NCI:C27729 SNOMEDCT_US_2023_03_01:128892009 UMLS_CUI:C1266046 disease_ontology DOID:8292 atypical follicular adenoma DOID:8292 A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades. ICD10CM:B86 ICD9CM:133.0 MESH:D012532 NCI:C34998 SNOMEDCT_US_2023_03_01:266224002 UMLS_CUI:C0036262 Infestation by Sarcoptes scabiei Infestation by Sarcoptes scabiei var hominis Sarcoptic itch disease_ontology DOID:8295 scabies MESH:D012532 DOID:8295 A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades. url:http://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. ICD10CM:H26 ICD9CM:366.8 MIM:601371 MIM:PS116200 SNOMEDCT_US_2023_03_01:193620000 UMLS_CUI:C0029531 disease_ontology DOID:83 Xref MGI. cataract MESH:D002386 DOID:83 A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. url:http://en.wikipedia.org/wiki/Cataract url:https://www.ncbi.nlm.nih.gov/pubmed/10414631 A uterine corpus cancer that has_material_basis_in endometrial stroma and smooth muscle cells. NCI:C40178 UMLS_CUI:C1513364 Stromomyoma disease_ontology DOID:8302 mixed endometrial stromal and smooth muscle tumor DOID:8302 A uterine corpus cancer that has_material_basis_in endometrial stroma and smooth muscle cells. url:https://www.ncbi.nlm.nih.gov/pubmed/25755804 disease_ontology DOID:8303 congenital granular cell tumor DOID:8303 A lymph node benign neoplasm that is composed of myoid or myofibroblastic spindle cells, with focal palisading and so-called amianthoid fibers. NCI:C6584 UMLS_CUI:C1335295 Palisaded Myofibroblastoma of the Lymph Node disease_ontology DOID:8304 lymph node palisaded myofibroblastoma DOID:8304 A lymph node benign neoplasm that is composed of myoid or myofibroblastic spindle cells, with focal palisading and so-called amianthoid fibers. url:http://www.pathologyoutlines.com/topic/softtissueintranodalpalisaded.html NCI:C6583 UMLS_CUI:C1335063 Nonossifying Fibromyxoma disease_ontology DOID:8305 nonossifying fibromyxoid tumor DOID:8305 A cervical adenocarcinoma that is characterized by tumor cells that are identical to those in adenocarcinoma in situ (ACIS) and microscopic findings that suggest invasion. NCI:C36096 UMLS_CUI:C1333369 disease_ontology DOID:8307 early invasive cervical adenocarcinoma DOID:8307 A cervical adenocarcinoma that is characterized by tumor cells that are identical to those in adenocarcinoma in situ (ACIS) and microscopic findings that suggest invasion. url:https://www.uptodate.com/contents/invasive-cervical-adenocarcinoma metastatic carcinoma from the small Intestine disease_ontology DOID:8309 obsolete metastatic carcinoma from the small bowel true DOID:8309 A proliferative type fibrocystic change of breast that is characterized by enlarged lobules that are distorted by scar-like tissue and excess glandular tissue. NCI:C5205 SNOMEDCT_US_2023_03_01:105261000119101 UMLS_CUI:C1335931 Sclerosing breast Adenosis disease_ontology DOID:8310 sclerosing adenosis of breast DOID:8310 A proliferative type fibrocystic change of breast that is characterized by enlarged lobules that are distorted by scar-like tissue and excess glandular tissue. url:https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/adenosis-of-the-breast.html Resectable carcinoma of the Small Bowel disease_ontology DOID:8329 obsolete resectable small intestine carcinoma true DOID:8329 An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs. MESH:D004428 NCI:C3000 SNOMEDCT_US_2023_03_01:363228008 UMLS_CUI:C0013449 disease_ontology DOID:833 auditory system cancer DOID:833 An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs. url:http://en.wikipedia.org/wiki/Ear NCI:C6526 UMLS_CUI:C1335382 disease_ontology DOID:8331 perineural angioma DOID:8331 disease_ontology DOID:8334 obsolete testicular intratubular germ cell neoplasia with extratubular extension true DOID:8334 NCI:C5199 UMLS_CUI:C1334753 disease_ontology DOID:8335 microglandular adenosis of breast DOID:8335 A choriocarcinoma of the ovary that is present during childhood. NCI:C6549 UMLS_CUI:C1332987 childhood ovarian choriocarcinoma pediatric Choriocarcinoma of Ovary disease_ontology DOID:8336 childhood choriocarcinoma of the ovary DOID:8336 A choriocarcinoma of the ovary that is present during childhood. url:https://www.sciencedirect.com/science/article/pii/S1875957211000349 An appendix disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. DOID:10275 DOID:10276 DOID:10947 ICD10CM:K37 ICD9CM:540-543.99 MESH:D001064 NCI:C35145 SNOMEDCT_US_2023_03_01:155729003 UMLS_CUI:C0003615 acute appendicitis acute appendicitis with generalized peritonitis acute appendicitis with peritoneal abscess disease_ontology DOID:8337 appendicitis DOID:8337 An appendix disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. url:http://www.merck.com/mmhe/sec09/ch132/ch132e.html#sec09-ch132-ch132e-1018 url:https://www.niddk.nih.gov/health-information/digestive-diseases/appendicitis A cervical mucinous adenocarcinoma that is characterized by a dominant pattern of well differentiated, thin and simple papillary structures without broad, fibrovascular cores. NCI:C40208 UMLS_CUI:C4289808 disease_ontology DOID:8338 villoglandular variant cervical mucinous adenocarcinoma DOID:8338 A cervical mucinous adenocarcinoma that is characterized by a dominant pattern of well differentiated, thin and simple papillary structures without broad, fibrovascular cores. url:http://www.pathologyoutlines.com/topic/uterusvilloglandular.html A cervical mucinous adenocarcinoma that is characterized by areas of intestinal type differentiation. NCI:C40203 UMLS_CUI:C1516422 disease_ontology DOID:8339 intestinal variant cervical mucinous adenocarcinoma DOID:8339 A cervical mucinous adenocarcinoma that is characterized by areas of intestinal type differentiation. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780314/ A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix. ICDO:8482/3 SNOMEDCT_US_2023_03_01:128695008 UMLS_CUI:C1266079 Cervical Mucinous Adenocarcinoma, Endocervical-Type Mucinous adenocarcinoma, endocervical type disease_ontology DOID:8340 endocervical type cervical mucinous adenocarcinoma DOID:8340 A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix. url:https://pubmed.ncbi.nlm.nih.gov/22990556/ disease_ontology DOID:8344 obsolete type 1b ALPS true DOID:8344 disease_ontology DOID:8345 obsolete type 2 ALPS true DOID:8345 localized Neuroepithelioma of bone disease_ontology DOID:8348 obsolete localized PNET of bone true DOID:8348 disease_ontology DOID:8349 obsolete metastatic peripheral neuroepithelioma of bone true DOID:8349 A vascular cancer that is located_in the aorta. NCI:C5375 UMLS_CUI:C1334560 aortic malignant neoplasm disease_ontology DOID:8352 aortic malignant tumor DOID:8352 A vascular cancer that is located_in the aorta. url:https://www.ncbi.nlm.nih.gov/pubmed/14681654 NCI:C6561 SNOMEDCT_US_2023_03_01:253093000 UMLS_CUI:C1321427 epithelioid MPNST malignant epithelioid neoplasm of the peripheral nerve Sheath disease_ontology DOID:8353 epithelioid malignant peripheral nerve sheath tumor DOID:8353 A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections. MIM:613779 NCI:C9468 ORDO:280133 SNOMEDCT_US_2023_03_01:771443008 UMLS_CUI:C1332655 C3 deficiency disease_ontology DOID:8354 Xref MGI. complement component 3 deficiency DOID:8354 A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections. url:https://www.omim.org/entry/613779 NCI:C40958 UMLS_CUI:C1515293 disease_ontology DOID:8358 pseudoglandular variant testicular seminoma DOID:8358 A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm. NCI:C40212 UMLS_CUI:C1516407 disease_ontology DOID:8361 glassy cell variant cervical adenosquamous carcinoma DOID:8361 A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm. url:http://en.wikipedia.org/wiki/Glassy_cell_carcinoma_of_the_cervix url:https://www.ncbi.nlm.nih.gov/pubmed/14749637 url:https://www.ncbi.nlm.nih.gov/pubmed/15318016 NCI:C39932 UMLS_CUI:C1515304 disease_ontology DOID:8362 enteric pattern testicular yolk sac tumor DOID:8362 malignant tumor of Inferior Vena Cava disease_ontology DOID:8365 obsolete inferior vena cava malignant neoplasm true DOID:8365 relapsed adenocarcinoma of the esophagus disease_ontology DOID:8366 obsolete esophageal adenocarcinoma recurrent true DOID:8366 A meningioma that is characterized by the predominance of tissues that are histologically similar to chordoma. ICDO:9538/1 NCI:C6908 SNOMEDCT_US_2023_03_01:57606003 UMLS_CUI:C1370510 meningioma, chordoid disease_ontology DOID:8368 chordoid meningioma DOID:8368 A meningioma that is characterized by the predominance of tissues that are histologically similar to chordoma. url:https://pubmed.ncbi.nlm.nih.gov/36692061/ NCI:C7814 UMLS_CUI:C0278622 adult MPNST disease_ontology DOID:8369 adult malignant schwannoma DOID:8369 mixed Embryonal carcinoma and Yolk Sac tumor with Seminoma of testis disease_ontology DOID:8376 obsolete mixed embryonal carcinoma and endodermal sinus neoplasm with seminoma of the testis true DOID:8376 Ectopic Calcitonin Secretion Ectopic calcitonin production (finding) disease_ontology DOID:8381 obsolete ectopic calcitonin production true DOID:8381 relapsed carcinoma of Endometrium disease_ontology DOID:8382 obsolete recurrent endometrial cancer true DOID:8382 disease_ontology DOID:8386 obsolete ectopic chorionic gonadotropin secretion disease true DOID:8386 disease_ontology DOID:8387 obsolete metastatic non-cutaneous melanoma true DOID:8387 mixed Embryonal carcinoma and Seminoma of testis disease_ontology DOID:8388 obsolete mixed embryonal carcinoma and seminoma of the testis true DOID:8388 NCI:C5824 UMLS_CUI:C1334437 tumor of Lumbar Plexus disease_ontology DOID:8389 lumbar plexus neoplasm DOID:8389 mixed Choriocarcinoma and Seminoma of testis disease_ontology DOID:8390 obsolete mixed choriocarcinoma and seminoma of the testis true DOID:8390 NCI:C39923 UMLS_CUI:C1515308 disease_ontology DOID:8392 reticular pattern testicular yolk sac tumor DOID:8392 NCI:C39946 UMLS_CUI:C1515284 disease_ontology DOID:8394 adult type testicular granulosa cell tumor DOID:8394 An arthritis that has_material_basis_in worn out cartilage located_in joint. ICD9CM:715.3 UMLS_CUI:C0157946 Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis disease_ontology DOID:8398 Xref MGI. osteoarthritis MESH:D010003 DOID:8398 An arthritis that has_material_basis_in worn out cartilage located_in joint. url:http://en.wikipedia.org/wiki/Osteoarthritis url:http://www.mayoclinic.com/health/osteoarthritis/DS00019 url:http://www.nlm.nih.gov/medlineplus/ency/article/000423.htm A mite infestation that involves rash caused by Leptotrombidium deliense. MESH:D014323 UMLS_CUI:C0041170 disease_ontology DOID:8399 trombiculiasis DOID:8399 A mite infestation that involves rash caused by Leptotrombidium deliense. url:http://en.wikipedia.org/wiki/Trombiculosis An ischemic bone disease that results_in necrosis located_in epiphysis. DOID:87 GARD:12703 ICD10CM:M93.2 ICD10CM:M93.9 ICD9CM:732.7 MESH:D010007 MESH:D010008 MIM:165800 NCI:C34877 NCI:C34878 SNOMEDCT_US_2023_03_01:156821002 SNOMEDCT_US_2023_03_01:70736000 UMLS_CUI:C0029420 UMLS_CUI:C0029421 OCD disease_ontology DOID:84 OMIM mapping confirmed by DO. [SN]. osteochondritis dissecans DOID:84 An ischemic bone disease that results_in necrosis located_in epiphysis. url:http://en.wikipedia.org/wiki/Osteochondritis_dissecans url:http://www.mayoclinic.com/health/osteochondritis-dissecans/DS00741 OCD An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. ICD10CM:J67.3 ICD9CM:495.3 SNOMEDCT_US_2023_03_01:13394002 UMLS_CUI:C0152108 Suberosis cork-handlers' disease or lung cork-handlers' lung disease_ontology DOID:840 cork-handlers' disease DOID:840 An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470051/pdf/thorax00130-0009.pdf NCI:C4553 SNOMEDCT_US_2023_03_01:255009006 UMLS_CUI:C0346367 malignant Corneal melanoma malignant melanoma of cornea disease_ontology DOID:8400 malignant cornea melanoma DOID:8400 Non-metastatic malignant hemangiopericytoma disease_ontology DOID:8401 obsolete malignant hemangiopericytoma nonmetastatic true DOID:8401 A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth. NCI:C27300 SNOMEDCT_US_2023_03_01:48241004 UMLS_CUI:C0267497 Meckel diverticulitis disease_ontology DOID:8408 Meckel's diverticulitis DOID:8408 A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth. url:https://en.wikipedia.org/wiki/Meckel's_diverticulum#Diverticulitis url:https://www.ncbi.nlm.nih.gov/pubmed/17021300 url:https://www.ncbi.nlm.nih.gov/pubmed/17579156 A cervical squamous cell carcinoma that is characterized by invasion which diagnosed by microscopy only. Invasion is limited to measured stromal invasion with a maximum depth of 5_mm and no wider than 7_mm diameter. NCI:C36094 UMLS_CUI:C1333370 disease_ontology DOID:8409 microinvasive cervical squamous cell carcinoma DOID:8409 A cervical squamous cell carcinoma that is characterized by invasion which diagnosed by microscopy only. Invasion is limited to measured stromal invasion with a maximum depth of 5_mm and no wider than 7_mm diameter. url:http://www.pathologyoutlines.com/topic/cervixmicroinvasivescc.html An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss. DOID:2707 GARD:12 ICD10CM:J67.9 ICD9CM:495 MESH:D000542 NCI:C34369 SNOMEDCT_US_2023_03_01:155581001 UMLS_CUI:C0002390 alveolitis hypersensitivity pneumonitis disease_ontology DOID:841 extrinsic allergic alveolitis DOID:841 An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss. url:http://www.merck.com/mmhe/sec04/ch051/ch051b.html url:http://www.nlm.nih.gov/medlineplus/ency/article/000109.htm NCI:C6565 UMLS_CUI:C1333000 pediatric renal Angiomyolipoma disease_ontology DOID:8410 childhood kidney angiomyolipoma DOID:8410 NCI:C3888 SNOMEDCT_US_2023_03_01:254921004 UMLS_CUI:C0241961 Angiomyolipoma of kidney renal Angiomyolipoma disease_ontology DOID:8411 kidney angiomyolipoma DOID:8411 relapsed extraskeletal Osteosarcoma disease_ontology DOID:8413 obsolete recurrent extraskeletal osteosarcoma true DOID:8413 NCI:C27389 UMLS_CUI:C1332840 disease_ontology DOID:8415 carcinoma arising in nasal papillomatosis DOID:8415 NCI:C4244 SNOMEDCT_US_2023_03_01:403996004 UMLS_CUI:C0334459 Infantile fibrosarcoma disease_ontology DOID:8418 congenital fibrosarcoma DOID:8418 NCI:C4161 SNOMEDCT_US_2023_03_01:26545006 UMLS_CUI:C0334329 Macrofollicular adenoma disease_ontology DOID:8419 colloid adenoma DOID:8419 NCI:C6560 SNOMEDCT_US_2023_03_01:699659007 UMLS_CUI:C1333821 glandular MPNST disease_ontology DOID:8420 malignant glandular tumor of peripheral nerve sheath DOID:8420 NCI:C4469 SNOMEDCT_US_2023_03_01:254694002 UMLS_CUI:C0346006 follicular infundibulum tumour neoplasm of the Follicular Infundibulum tumor of follicular infundibulum tumour of follicular infundibulum disease_ontology DOID:8426 follicular infundibulum tumor DOID:8426 NCI:C8601 SNOMEDCT_US_2023_03_01:423673009 UMLS_CUI:C0853394 malignant Retinal melanoma disease_ontology DOID:8427 retinal melanoma DOID:8427 A breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast. NCI:C5140 UMLS_CUI:C1332315 Apocrine carcinoma in situ of the breast disease_ontology DOID:8428 breast apocrine carcinoma in situ DOID:8428 A breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast. url:https://www.ncbi.nlm.nih.gov/pubmed/23771415 url:https://www.ncbi.nlm.nih.gov/pubmed/25374127 disease_ontology DOID:8429 obsolete testicular seminoma with syncytiotrophoblastic cells true DOID:8429 NCI:C27311 UMLS_CUI:C0856817 disease_ontology DOID:8431 physiological polycythemia DOID:8431 A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow. ICD10CM:D75.1 MESH:D011086 NCI:C26863 SNOMEDCT_US_2023_03_01:127062003 UMLS_CUI:C0032461 Erythrocythemia disease_ontology DOID:8432 polycythemia DOID:8432 A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow. url:https://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera url:https://www.nhlbi.nih.gov/health-topics/polycythemia-vera NCI:C27331 UMLS_CUI:C0877367 disease_ontology DOID:8433 thyroid malformation DOID:8433 DOID:10227 DOID:13136 DOID:8434 Drug dependence, antepartum Pregnancy and drug dependence Pregnancy and drug dependence (disorder) drug dependence of mother with delivery postpartum drug dependence disease_ontology DOID:8435 obsolete Drug dependence complicating pregnancy, childbirth, or the puerperium true DOID:8435 ICD10CM:K56.609 ICD9CM:560.9 MESH:D007415 NCI:C9175 SNOMEDCT_US_2023_03_01:81060008 UMLS_CUI:C0021843 disease_ontology DOID:8437 intestinal obstruction DOID:8437 A postgastrectomy syndrome that is characterized by obstruction of the afferent loop that arises after gastric surgery with gastrojejunostomy reconstruction. MESH:D000343 SNOMEDCT_US_2023_03_01:20813000 UMLS_CUI:C0001727 Afferent limb syndrome disease_ontology DOID:8438 afferent loop syndrome MESH:D000343 DOID:8438 A postgastrectomy syndrome that is characterized by obstruction of the afferent loop that arises after gastric surgery with gastrojejunostomy reconstruction. url:https://pubmed.ncbi.nlm.nih.gov/32638230/ url:https://www.ncbi.nlm.nih.gov/books/NBK546609/ url:https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=134&contentid=157 ICD10CM:K91.1 ICD9CM:564.2 MESH:D011178 SNOMEDCT_US_2023_03_01:266527005 UMLS_CUI:C0032763 Postgastric surgery syndrome disease_ontology DOID:8439 postgastrectomy syndrome DOID:8439 chronic depression (disorder) chronic depressive personality disorder disease_ontology DOID:844 obsolete chronic depressive disorder true DOID:844 MESH:D045823 NCI:C37979 SNOMEDCT_US_2023_03_01:278524008 UMLS_CUI:C1258215 Ileus of intestine disease_ontology DOID:8440 ileus DOID:8440 ICD10CM:K56.0 ICD9CM:560.1 MESH:D007418 NCI:C93045 SNOMEDCT_US_2023_03_01:155773004 UMLS_CUI:C0030446 disease_ontology DOID:8442 paralytic ileus DOID:8442 A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus. ICD9CM:353.0 SNOMEDCT_US_2023_03_01:3548001 UMLS_CUI:C0006091 Brachial plexus lesions disease_ontology DOID:8443 brachial plexus lesion DOID:8443 A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus. url:http://en.wikipedia.org/wiki/Brachial_plexus_injury url:http://www.nlm.nih.gov/medlineplus/brachialplexusinjuries.html disease_ontology DOID:8444 obsolete nerve root and plexus disorder true DOID:8444 An intestinal obstruction characterized by abnormal rotation of the intestines. ICD10CM:K56.2 ICD9CM:560.2 MESH:D045822 MIM:193250 NCI:C98963 SNOMEDCT_US_2023_03_01:9707006 UMLS_CUI:C0042961 Twist of intestine, bowel, or colon Volvulus familial intestinal malrotation volvulus of midgut disease_ontology DOID:8445 intestinal volvulus DOID:8445 An intestinal obstruction characterized by abnormal rotation of the intestines. url:https://www.ncbi.nlm.nih.gov/pubmed/20549505 ICD10CM:K56.1 ICD9CM:560.0 MESH:D007443 MIM:147710 NCI:C113484 SNOMEDCT_US_2023_03_01:155772009 UMLS_CUI:C0021933 Intussusception of intestine Invagination of intestine or colon disease_ontology DOID:8446 OMIM mapping confirmed by DO. [SN]. intussusception DOID:8446 ICD10CM:K56.4 ICD9CM:560.39 SNOMEDCT_US_2023_03_01:197540000 UMLS_CUI:C0029640 disease_ontology DOID:8448 intestinal impaction DOID:8448 disease_ontology DOID:8449 obsolete vitamin B deficiency true DOID:8449 A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes. ICD10CM:F34.0 ICD9CM:301.13 MESH:D003527 SNOMEDCT_US_2023_03_01:191754000 UMLS_CUI:C0010598 Affective personality disorder Cycloid personality Cyclothymia Cyclothymic personality disease_ontology DOID:845 cyclothymic disorder DOID:845 A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes. url:http://en.wikipedia.org/wiki/Mood_disorder DOID:8450 disease_ontology DOID:8451 obsolete vitamin deficiency true DOID:8451 disease_ontology DOID:8452 obsolete malnutrition true DOID:8452 Folic acid deficiency Folic acid deficiency (disorder) deficiency of folic acid (disorder) folate deficiency disease_ontology DOID:8453 obsolete folic acid deficiency true DOID:8453 A nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops_from vitamin B2 (riboflavin) deficiency, has_symptom red chapped lips, painful swollen tongue, sore throat, blurred vision, and fatigue, and has_material_basis_in inadequate intake, endocrine disorder, liver disorder, alcoholism, and dialysis. ICD10CM:E53.0 ICD9CM:266.0 MESH:D012257 SNOMEDCT_US_2023_03_01:20307000 UMLS_CUI:C0035528 ariboflavinosis vitamin B2 deficiency disease_ontology DOID:8454 riboflavin deficiency DOID:8454 A nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops_from vitamin B2 (riboflavin) deficiency, has_symptom red chapped lips, painful swollen tongue, sore throat, blurred vision, and fatigue, and has_material_basis_in inadequate intake, endocrine disorder, liver disorder, alcoholism, and dialysis. url:https://www.ncbi.nlm.nih.gov/books/NBK470460/ A nutritional deficiency disease that is characterized by normocytic anemia associated with deficiency of pyridoxine (vitamin B6), and has_material_basis_in decreased intake, malabsorption, increased clearance or breakdown, and certain medications (eg isoniazid). ICD10CM:E53.1 ICD9CM:266.1 MESH:D026681 NCI:C85221 SNOMEDCT_US_2023_03_01:18881008 UMLS_CUI:C0936215 vitamin B6 deficiency syndrome disease_ontology DOID:8455 pyridoxine deficiency anemia DOID:8455 A nutritional deficiency disease that is characterized by normocytic anemia associated with deficiency of pyridoxine (vitamin B6), and has_material_basis_in decreased intake, malabsorption, increased clearance or breakdown, and certain medications (eg isoniazid). url:https://www.ncbi.nlm.nih.gov/books/NBK470579/ A nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly has_material_basis_in inadequate intake and exacerbated by a genetic predisposition. MESH:D002796 SNOMEDCT_US_2023_03_01:238113006 UMLS_CUI:C0008412 choline deficiency disease_ontology DOID:8456 choline deficiency disease DOID:8456 A nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly has_material_basis_in inadequate intake and exacerbated by a genetic predisposition. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319504/ A nutritional deficiency disease that is characterized by deficiency of niacin (vitamin B3), has_symptom gastrointestinal disturbance, anorexia, diarrhea, dementia, hallucinations, depression, psychosis, and/or non-specific skin changes, and has_material_basis_in deficiency of niacin, often from inadequate diet, malabsorption, or medication side effects. GARD:10014 ICD9CM:265.2 MESH:D010383 SNOMEDCT_US_2023_03_01:267491008 UMLS_CUI:C0030783 Niacin deficiency Niacin-tryptophan deficiency disease_ontology DOID:8457 pellagra DOID:8457 A nutritional deficiency disease that is characterized by deficiency of niacin (vitamin B3), has_symptom gastrointestinal disturbance, anorexia, diarrhea, dementia, hallucinations, depression, psychosis, and/or non-specific skin changes, and has_material_basis_in deficiency of niacin, often from inadequate diet, malabsorption, or medication side effects. url:https://www.ncbi.nlm.nih.gov/pubmed/16207585 disease_ontology DOID:8458 obsolete Thiamine and niacin deficiency state true DOID:8458 Cobalamin deficiency (disorder) deficiency of vitamin B>12< (disorder) vitamin B 12 deficiency vitamin B12 deficiency disease_ontology DOID:8459 obsolete vitamin B 12 deficiency true DOID:8459 disease_ontology DOID:846 obsolete arthropathy associated with hematological disorder true DOID:846 A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye. GARD:5764 MESH:D058540 MIM:304050 NCI:C35256 ORDO:50 SNOMEDCT_US_2023_03_01:80651009 UMLS_CUI:C0175713 disease_ontology DOID:8461 OMIM mapping confirmed by DO. [SN]. Aicardi syndrome MESH:D058540 DOID:8461 A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye. url:http://en.wikipedia.org/wiki/Aicardi_syndrome url:http://ghr.nlm.nih.gov/condition/aicardi-syndrome ICD10CM:H16.0 ICD9CM:370.0 MESH:D003320 NCI:C50515 SNOMEDCT_US_2023_03_01:193758008 UMLS_CUI:C0010043 disease_ontology DOID:8463 corneal ulcer DOID:8463 ICD9CM:361.11 SNOMEDCT_US_2023_03_01:193332006 UMLS_CUI:C0154817 disease_ontology DOID:8464 flat retinoschisis DOID:8464 ICD10CM:H33.10 ICD9CM:361.10 MESH:D041441 NCI:C85046 SNOMEDCT_US_2023_03_01:389992006 UMLS_CUI:C0152439 disease_ontology DOID:8465 retinoschisis DOID:8465 A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina. MESH:D012162 NCI:C34979 SNOMEDCT_US_2023_03_01:95695004 UMLS_CUI:C0035304 degeneration of retina disease_ontology DOID:8466 retinal degeneration DOID:8466 A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina. url:https://en.wikipedia.org/wiki/Retinal_degeneration_(rhodopsin_mutation) disease_ontology DOID:8467 obsolete Retinoschisis and retinal cysts true DOID:8467 A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A (Alphainfluenzavirus), has_material_basis_in Influenzavirus B (Betainfluenzavirus), or has_material_basis_in Influenzavirus C (Gammainfluenzavirus), which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. DOID:8468 ICD10CM:J11.1 ICD9CM:487 MESH:D007251 NCI:C53482 SNOMEDCT_US_2023_03_01:155559006 UMLS_CUI:C0021400 Influenza with other manifestations flu influenza with non-respiratory manifestation disease_ontology DOID:8469 influenza DOID:8469 A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A (Alphainfluenzavirus), has_material_basis_in Influenzavirus B (Betainfluenzavirus), or has_material_basis_in Influenzavirus C (Gammainfluenzavirus), which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. url:http://www.merck.com/mmhe/sec17/ch198/ch198d.html url:http://www.who.int/mediacentre/factsheets/2003/fs211/en/ GARD:7058 ICD10CM:L94.0 ICD9CM:701.0 MESH:D012594 NCI:C72069 SNOMEDCT_US_2023_03_01:90424004 UMLS_CUI:C0036420 Morphea Scleroderma, circumscribed or localised Scleroderma, circumscribed or localized circumscribed scleroderma localised morphea localised morphoea localised scleroderma localized morphea disease_ontology DOID:8472 localized scleroderma DOID:8472 GARD:7889 ICD10CM:K90.81 ICD9CM:040.2 MESH:D008061 NCI:C85228 SNOMEDCT_US_2023_03_01:41545003 UMLS_CUI:C0023788 Whipple's disease intestinal lipodystrophy disease_ontology DOID:8476 Whipple disease DOID:8476 disease_ontology DOID:8477 obsolete malabsorption syndrome true DOID:8477 A commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures. DOID:0050000 DOID:13079 GARD:5728 ICD10CM:A42 ICD9CM:039.9 MESH:D000196 NCI:C34350 SNOMEDCT_US_2023_03_01:50508009 UMLS_CUI:C0001261 Actinomycotic madura foot Actinomycotic mycetema Actinomycotic mycetoma of foot Madura foot due to Actinomadura actinomycotic infection disease_ontology actinomycetoma DOID:8478 actinomycosis MESH:D000196 DOID:8478 A commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures. url:http://en.wikipedia.org/wiki/Actinomycosis A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint. ICD10CM:M19.90 MESH:D001168 NCI:C2883 SNOMEDCT_US_2023_03_01:372091005 UMLS_CUI:C0003864 Inflammatory disorder of joint disease_ontology DOID:848 arthritis MESH:D001168 DOID:848 A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint. url:http://en.wikipedia.org/wiki/Arthritis url:http://www.arthritis.org/ url:http://www.nlm.nih.gov/medlineplus/ency/article/001243.htm url:https://www.cdc.gov/arthritis/index.htm ls:IEDB DOID:14025 DOID:14036 ICD10CM:I01.9 ICD10CM:M05.3 ICD9CM:391.9 ICD9CM:398.0 NCI:C34985 SNOMEDCT_US_2023_03_01:195136004 SNOMEDCT_US_2023_03_01:8805001 UMLS_CUI:C0035440 UMLS_CUI:C0489959 Rheumatic degeneration of myocardium Rheumatic fever with myocarditis Rheumatoid myocarditis active rheumatic fever with myocarditis acute rheumatic carditis acute rheumatic myocarditis disease_ontology DOID:8481 rheumatic myocarditis DOID:8481 ICD10CM:H34.0 ICD9CM:362.34 NCI:C35193 SNOMEDCT_US_2023_03_01:87224000 UMLS_CUI:C0154840 Retinal transient arterial occlusion Transient arterial retinal occlusion disease_ontology DOID:8482 transient retinal arterial occlusion DOID:8482 MESH:D015356 NCI:C34978 SNOMEDCT_US_2023_03_01:232035005 UMLS_CUI:C0035302 disease_ontology DOID:8483 retinal artery occlusion DOID:8483 An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale. ICD10CM:J67.6 ICD9CM:495.6 SNOMEDCT_US_2023_03_01:86638007 UMLS_CUI:C0155890 Maple bark-strippers' lung Maple-bark strippers' lung alveolitis due to cryptostroma corticale maple bark disease maple bark stripper's disease maple bark stripper's lung disease_ontology DOID:8484 maple bark strippers' lung DOID:8484 An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale. url:https://www.ncbi.nlm.nih.gov/pubmed/2735559 An opportunistic mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds. DOID:0050087 DOID:0050595 DOID:8486 MESH:D009091 disseminated mucormycosis zygomycosis disease_ontology DOID:8485 mucormycosis DOID:8485 An opportunistic mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds. url:http://www.nlm.nih.gov/medlineplus/ency/article/000649.htm secondary retinal cyst (disorder) secondary retinal cysts secondary retinal cysts (disorder) disease_ontology DOID:8487 obsolete secondary retinal cyst true DOID:8487 A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. ICD10CM:O40 ICD9CM:657.0 MESH:D006831 NCI:C92848 SNOMEDCT_US_2023_03_01:157052008 UMLS_CUI:C0020224 disease_ontology DOID:8488 polyhydramnios DOID:8488 A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. url:http://en.wikipedia.org/wiki/Polyhydramnios disease_ontology DOID:8489 obsolete disorder of amniotic fluid and membranes true DOID:8489 An interstitial lung disease that is characterized by the development of pleuroparenchymal disease secondary to rheumatoid arthritis, including pleural effusions, pleural fibrosis, pulmonary vascular disease, and airway complications. ICD9CM:714.81 Rheumatoid lung disease_ontology DOID:849 rheumatoid arthritis interstitial lung disease DOID:849 An interstitial lung disease that is characterized by the development of pleuroparenchymal disease secondary to rheumatoid arthritis, including pleural effusions, pleural fibrosis, pulmonary vascular disease, and airway complications. url:https://err.ersjournals.com/content/30/160/210011 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2647595/ url:https://www.ncbi.nlm.nih.gov/pubmed/29119259 DOID:8496 DOID:8497 antepartum primary uterine inertia primary uterine inertia - delivered primary uterine inertia - delivered (disorder) primary uterine inertia, with delivery disease_ontology DOID:8490 obsolete primary hypotonic uterine dysfunction true DOID:8490 disease_ontology DOID:8491 obsolete Prolonged first stage of labor true DOID:8491 disease_ontology DOID:8493 obsolete abnormality of forces of labor true DOID:8493 disease_ontology DOID:8494 obsolete dystocia true DOID:8494 disease_ontology DOID:8495 obsolete prolonged labor true DOID:8495 ICD10CM:H53.63 ICD9CM:368.61 MESH:C537743 SNOMEDCT_US_2023_03_01:193687000 UMLS_CUI:C1306122 Congenital night blindness disease_ontology DOID:8498 OMIM mapping confirmed by DO. [SN]. hereditary night blindness DOID:8498 A retinal disease that is characterized by difficulty or the inability to see in relatively low light. ICD10CM:H53.6 ICD9CM:368.6 MESH:D009755 NCI:C34850 SNOMEDCT_US_2023_03_01:75390007 UMLS_CUI:C0028077 nyctalopia disease_ontology DOID:8499 night blindness DOID:8499 A retinal disease that is characterized by difficulty or the inability to see in relatively low light. url:https://en.wikipedia.org/wiki/Nyctalopia A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. DOID:11894 DOID:11895 DOID:29 DOID:766 ICD10CM:J98.4 MESH:D008171 NCI:C3198 SNOMEDCT_US_2023_03_01:266374002 UMLS_CUI:C0024115 disease_ontology DOID:850 Updating out dated CUI and removing lung abscess as a synonym. lung disease DOID:850 A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. url:http://www.niehs.nih.gov/health/topics/conditions/lung-disease/index.cfm url:http://www.nlm.nih.gov/medlineplus/ency/article/000066.htm ICD10CM:H35.5 ICD9CM:362.7 NCI:C35194 SNOMEDCT_US_2023_03_01:41799005 UMLS_CUI:C0154860 disease_ontology DOID:8500 hereditary retinal dystrophy DOID:8500 MESH:D058499 NCI:C35625 SNOMEDCT_US_2023_03_01:314407005 UMLS_CUI:C0854723 Retinal Dystrophy disease_ontology DOID:8501 fundus dystrophy DOID:8501 A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. disease_ontology DOID:8502 bullous skin disease DOID:8502 A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. url:http://en.wikipedia.org/wiki/Dermatitis_herpetiformis An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy. ICD10CM:L40.1 ICD9CM:694.3 SNOMEDCT_US_2023_03_01:200973000 UMLS_CUI:C1314968 disease_ontology DOID:8503 impetigo herpetiformis DOID:8503 An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy. url:http://en.wikipedia.org/wiki/Impetigo_herpetiformis A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous. ICD10CM:L01.0 ICD9CM:684 MESH:D007169 NCI:C99088 SNOMEDCT_US_2023_03_01:156319000 UMLS_CUI:C0021099 disease_ontology DOID:8504 impetigo DOID:8504 A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous. url:https://www.mayoclinic.org/diseases-conditions/impetigo/symptoms-causes/syc-20352352 GARD:1917 ICD10CM:L13.0 ICD9CM:694.0 MESH:D003874 NCI:C26742 SNOMEDCT_US_2023_03_01:200899006 UMLS_CUI:C0011608 Dermatosis herpetiformis Duhring's disease disease_ontology DOID:8505 dermatitis herpetiformis DOID:8505 A pemphigoid that is characterized by large blisters. GARD:5972 ICD10CM:L12.0 ICD9CM:694.5 MESH:D010391 NCI:C84389 SNOMEDCT_US_2023_03_01:77090002 UMLS_CUI:C0030805 disease_ontology DOID:8506 bullous pemphigoid DOID:8506 A pemphigoid that is characterized by large blisters. url:https://rarediseases.org/rare-diseases/bullous-pemphigoid/ sn:IEDB ICD10CM:L12.2 ICD9CM:694.2 SNOMEDCT_US_2023_03_01:267799009 UMLS_CUI:C0152092 disease_ontology DOID:8507 juvenile dermatitis herpetiformis DOID:8507 ICD10CM:L13.1 ICD9CM:694.1 MESH:D012872 SNOMEDCT_US_2023_03_01:25147002 UMLS_CUI:C0600336 Sneddon-Wilkinson disease or syndrome disease_ontology DOID:8508 subcorneal pustular dermatosis DOID:8508 A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands. ICD10CM:N75.0 ICD9CM:616.2 NCI:C26706 SNOMEDCT_US_2023_03_01:57044006 UMLS_CUI:C0004767 Bartholin duct cyst Bartholin's Cyst Cyst of Bartholin's gland Cyst of Bartholin's gland duct disease_ontology DOID:851 Bartholin's duct cyst DOID:851 A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands. url:https://www.ncbi.nlm.nih.gov/pubmed/12887119 ICD10CM:O88.21 ICD9CM:673 SNOMEDCT_US_2023_03_01:237341004 UMLS_CUI:C0157540 disease_ontology DOID:8512 puerperal pulmonary embolism DOID:8512 ICD10CM:I26.09 ICD9CM:415 SNOMEDCT_US_2023_03_01:155324005 UMLS_CUI:C0155671 disease_ontology DOID:8514 acute pulmonary heart disease DOID:8514 A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. ICD10CM:I27.81 MESH:D011660 SNOMEDCT_US_2023_03_01:83291003 UMLS_CUI:C0034072 cardiopulmonary disease pulmonary heart disease disease_ontology DOID:8515 Cor pulmonale DOID:8515 A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. url:http://en.wikipedia.org/wiki/Cor_pulmonale url:http://en.wikipedia.org/wiki/Heart_disease ICD9CM:415.1 SNOMEDCT_US_2023_03_01:1001000119102 UMLS_CUI:C0034066 disease_ontology DOID:8516 pulmonary embolism and infarction DOID:8516 ICD10CM:I26.09 ICD9CM:415 SNOMEDCT_US_2023_03_01:155324005 UMLS_CUI:C0155671 disease_ontology DOID:8517 acute cor pulmonale DOID:8517 A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences. ICD10CM:F13.11 ICD9CM:305.43 UMLS_CUI:C0154529 disease_ontology DOID:8519 barbiturate abuse DOID:8519 A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences. url:http://en.wikipedia.org/wiki/Barbiturate disease_ontology DOID:8521 obsolete recurrent manic episodes true DOID:8521 nodular lymphoma of lymph nodes of axilla and upper limb (disorder) disease_ontology DOID:8523 obsolete nodular lymphoma involving lymph nodes of axilla and upper limb true DOID:8523 DOID:8603 Follicle Center Lymphoma Follicular low grade B-cell lymphoma (disorder) Follicular non-Hodgkin's lymphoma (disorder) Giant follicular lymphosarcoma follicular lymphoma malignant lymphoma, follicle centre malignant lymphoma, nodular NOS (morphologic abnormality) nodular lymphoma (Brill - Symmers disease) disease_ontology DOID:8524 OMIM mapping confirmed by DO. [SN]. obsolete nodular lymphoma true DOID:8524 disease_ontology DOID:8525 obsolete nodular lymphoma involving intra-abdominal lymph nodes true DOID:8525 A myeloid leukemia that is characterized by a dominance of monocytes in the marrow. DOID:8526 DOID:8809 DOID:8884 DOID:8935 DOID:9151 ICD10CM:C93.Z ICD9CM:206.8 SNOMEDCT_US_2023_03_01:188747004 UMLS_CUI:C0153903 Schilling's leukaemia Schilling's leukemia monocytic leukaemia disease_ontology DOID:8527 monocytic leukemia DOID:8527 A myeloid leukemia that is characterized by a dominance of monocytes in the marrow. url:https://en.wikipedia.org/wiki/Monocytic_leukemia A chronic ulcer of skin where the ulcer is not a decubitus ulcer. DOID:8528 DOID:8610 DOID:8655 DOID:9034 DOID:9086 DOID:9200 DOID:9237 Ulcer of ankle Ulcer of calf Ulcer of heel and midfoot Ulcer of thigh disease_ontology DOID:8529 ulcer of lower limbs DOID:8529 A chronic ulcer of skin where the ulcer is not a decubitus ulcer. url:https://www.merriam-webster.com/dictionary/ulcer#medicalDictionary A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. ICD10CM:M35.3 ICD9CM:725 MESH:D011111 NCI:C85018 SNOMEDCT_US_2023_03_01:202834009 UMLS_CUI:C0032533 disease_ontology DOID:853 polymyalgia rheumatica DOID:853 A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. url:https://medlineplus.gov/polymyalgiarheumatica.html disease_ontology DOID:8530 obsolete toxic gastroenteritis and colitis true DOID:8530 A pharynx cancer that is located_in the hypopharynx. DOID:12202 DOID:8532 DOID:9160 GARD:9334 ICD10CM:C13 ICD10CM:C13.2 ICD9CM:148 ICD9CM:148.3 MESH:D007012 NCI:C7190 SNOMEDCT_US_2023_03_01:93831006 SNOMEDCT_US_2023_03_01:93968005 UMLS_CUI:C0153398 UMLS_CUI:C0496770 Hypopharyngeal cancer malignant Hypopharyngeal tumor malignant neoplasm of hypopharynx malignant tumor of hypopharynx malignant tumour of hypopharynx disease_ontology DOID:8533 hypopharynx cancer DOID:8533 A pharynx cancer that is located_in the hypopharynx. url:http://en.wikipedia.org/wiki/Hypopharynx ICD10CM:K21.9 ICD9CM:530.81 MESH:D005764 MIM:109350 NCI:C26781 SNOMEDCT_US_2023_03_01:235595009 UMLS_CUI:C0017168 Acid reflux GERD GERD - Gastro-esophageal reflux disease Gastresophageal reflux Gastro-esophageal reflux Gastroesophageal reflux disease_ontology DOID:8534 OMIM mapping confirmed by DO. [SN]. gastroesophageal reflux disease DOID:8534 GERD A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection. DOID:9101 Herpes zoster ophthalmicus Herpes zoster ophthalmicus (disorder) Herpes zoster with ophthalmic complication (disorder) Herpes zoster with other ophthalmic complication (disorder) Ophthalmic herpes zoster infection herpes zoster with other ophthalmic complications disease_ontology DOID:8535 obsolete ophthalmic herpes zoster true DOID:8535 A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection. url:http://emedicine.medscape.com/article/783223-overview A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia. DOID:8554 DOID:8555 DOID:8772 DOID:8801 DOID:9085 ICD10CM:B02 ICD9CM:053 MESH:D006562 NCI:C71079 SNOMEDCT_US_2023_03_01:186514003 UMLS_CUI:C0019360 Shingles herpes zona disease_ontology DOID:8536 herpes zoster ICD10CM:B02 ICD9CM:053 MESH:D006562 NCI:C71079 UMLS_CUI:C0019360 DOID:8536 A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia. url:http://en.wikipedia.org/wiki/Herpes_zoster url:https://medlineplus.gov/ency/article/000858.htm DOID:8537 ICD9CM:200.0 MESH:D008228 MIM:267730 NCI:C27824 SNOMEDCT_US_2023_03_01:154579006 UMLS_CUI:C0024302 histiocytic lymphoma large-cell Lymphomas disease_ontology DOID:8538 OMIM mapping confirmed by DO. [SN]. reticulosarcoma DOID:8538 Manic disorder, recurrent episode, in full remission recurrent manic episodes, in full remission (disorder) disease_ontology DOID:8539 obsolete recurrent manic episodes in full remission true DOID:8539 A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen. MESH:D003095 NCI:C27204 SNOMEDCT_US_2023_03_01:268048008 UMLS_CUI:C0009326 collagen disorder disease_ontology DOID:854 collagen disease DOID:854 A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen. url:https://en.wikipedia.org/wiki/Connective_tissue_disease Sezary's disease involving lymph nodes of head, face and neck Sezary's disease of lymph nodes of head, face and neck (disorder) Szary's disease of lymph nodes of head, face and/or neck (disorder) disease_ontology DOID:8540 obsolete Sezary's disease involving lymph nodes of head, face, and neck true DOID:8540 DOID:8790 GARD:7629 ICD10CM:C84.1 ICD9CM:202.2 MESH:D012751 NCI:C3366 SNOMEDCT_US_2023_03_01:4950009 UMLS_CUI:C0036920 Sezary disease Sezary syndrome disease_ontology DOID:8541 Sezary's disease DOID:8541 Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and upper limb (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of axilla and/or upper limb (disorder) disease_ontology Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb DOID:8542 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of axilla and upper limb true DOID:8542 ICD10CM:C81.4 ICD9CM:201.4 MESH:D006689 NCI:C6913 SNOMEDCT_US_2023_03_01:128799007 UMLS_CUI:C1266194 Hodgkin lymphoma, lymphocyte-rich Hodgkin lymphoma, lymphocytic-histiocytic predominance Hodgkin's disease, lymphocyte predominance Lymphocyte Rich Hodgkin's disease disease_ontology DOID:8543 Hodgkin's lymphoma, lymphocytic-histiocytic predominance DOID:8543 A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions. GARD:7121 ICD10CM:G93.32 ICD9CM:780.71 MESH:D015673 NCI:C3037 SNOMEDCT_US_2023_03_01:193054000 UMLS_CUI:C0015674 CFS Myalgic encephalitis Myalgic encephalomyelitis Postviral fatigue syndrome disease_ontology DOID:8544 No OMIM mapping, confirmed by DO. [LS]. chronic fatigue syndrome DOID:8544 A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions. url:http://en.wikipedia.org/wiki/Chronic_fatigue_syndrome CFS A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). GARD:6964 ICD10CM:T88.3 ICD9CM:995.86 MESH:D008305 MIM:PS145600 NCI:C84869 ORDO:423 SNOMEDCT_US_2023_03_01:111738008 UMLS_CUI:C0024591 anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia disease_ontology DOID:8545 Xref MGI. OMIM mapping confirmed by DO. [SN]. malignant hyperthermia DOID:8545 A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). url:http://en.wikipedia.org/wiki/Malignant_hyperthermia DOID:8548 DOID:8733 ICD10CM:L98.4 ICD9CM:707 SNOMEDCT_US_2023_03_01:156423009 UMLS_CUI:C0157738 Callous ulcer Indolent ulcer disease_ontology DOID:8549 chronic ulcer of skin DOID:8549 A myeloid leukemia that is characterized by over production of white blood cells. DOID:8551 DOID:8606 EFO:0000339 GARD:6105 ICD9CM:205.1 ICDO:9863/3 KEGG:05220 MIM:608232 ORDO:521 SNOMEDCT_US_2023_03_01:154592009 UMLS_CUI:C0023473 CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia disease_ontology DOID:8552 OMIM mapping confirmed by DO. [SN]. chronic myeloid leukemia DOID:8552 A myeloid leukemia that is characterized by over production of white blood cells. url:http://www.cancer.gov/dictionary?CdrID=46755 CML GARD:7510 ICD10CM:L88 ICD9CM:686.01 MESH:D017511 SNOMEDCT_US_2023_03_01:74578003 UMLS_CUI:C0085652 disease_ontology DOID:8553 pyoderma gangrenosum MESH:D017511 DOID:8553 ICD10CM:C10.0 ICD9CM:146.3 SNOMEDCT_US_2023_03_01:94132005 UMLS_CUI:C0153386 malignant tumor of vallecula disease_ontology DOID:8556 vallecula cancer DOID:8556 A pharynx cancer that is located_in the oropharynx. DOID:8684 DOID:8851 DOID:8949 DOID:9168 ICD10CM:C10 ICD10CM:C10.2 ICD10CM:C10.3 ICD10CM:C10.8 ICD9CM:146 ICD9CM:146.5 ICD9CM:146.6 ICD9CM:146.7 NCI:C7398 SNOMEDCT_US_2023_03_01:187686007 SNOMEDCT_US_2023_03_01:93933005 SNOMEDCT_US_2023_03_01:93971002 UMLS_CUI:C0153382 UMLS_CUI:C0153388 UMLS_CUI:C0153389 UMLS_CUI:C0153390 Oropharyngeal carcinoma malignant Oropharyngeal tumor malignant tumor of oropharynx malignant tumour of mesopharynx oropharyngeal cancer disease_ontology DOID:8557 oropharynx cancer DOID:8557 A pharynx cancer that is located_in the oropharynx. url:http://www.cancer.gov/dictionary?CdrID=446523 carcinoma in situ of other and unspecified female genital organs (disorder) disease_ontology DOID:8559 obsolete carcinoma in situ of female genital organs true DOID:8559 A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25. GARD:894 ICD10CM:D81.810 MESH:D028921 MIM:253260 NCI:C84598 SNOMEDCT_US_2023_03_01:8808004 UMLS_CUI:C0220754 BTD deficiency Juvenile-onset multiple carboxylase deficiency Late-onset multiple carboxylase deficiency deficiency of biotinidase disease_ontology DOID:856 OMIM mapping confirmed by DO. [SN]. biotinidase deficiency DOID:856 A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25. url:http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79241 carcinoma in situ of breast and genitourinary system (disorder) disease_ontology DOID:8560 obsolete carcinoma in situ of breast and genitourinary system true DOID:8560 DOID:8563 DOID:8605 DOID:8975 DOID:9031 DOID:9135 ICD10CM:C00 ICD9CM:140 ICD9CM:140.6 ICD9CM:140.8 MESH:D008048 NCI:C7485 SNOMEDCT_US_2023_03_01:187626009 SNOMEDCT_US_2023_03_01:93762003 SNOMEDCT_US_2023_03_01:93869001 UMLS_CUI:C0153340 UMLS_CUI:C0153346 UMLS_CUI:C0153347 malignant neoplasm of commissure of lip malignant neoplasm of external Lip, not specified as upper or lower malignant neoplasm of labial commissure of lip malignant neoplasm of lip malignant neoplasm of lip, external malignant neoplasm of lip, inner aspect malignant neoplasm of lip, vermilion border malignant neoplasm of lower lip, buccal aspect malignant neoplasm of lower lip, inner aspect malignant neoplasm of lower lip, mucosa malignant neoplasm of lower lip, oral aspect malignant neoplasm of oral aspect of lip, not specified whether upper or lower malignant neoplasm of other sites of lip malignant neoplasm of vermilion border of lip malignant tumor of commissure of lip malignant tumor of labial mucosa malignant tumor of lip malignant tumor of lower labial mucosa malignant tumor of the Lip malignant tumour of labial commissure malignant tumour of lip disease_ontology DOID:8564 lip cancer DOID:8564 A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which are transmitted_by direct contact with an active lesion or body fluid of an infected person. DOID:8763 DOID:9012 DOID:9239 ICD10CM:B00.9 ICD9CM:054 MESH:D006561 NCI:C155871 SNOMEDCT_US_2023_03_01:88594005 UMLS_CUI:C0019348 Herpesvirus hominis disease disease_ontology DOID:8566 herpes simplex ICD10CM:B00.9 ICD9CM:054 MESH:D006561 NCI:C155871 UMLS_CUI:C0019348 DOID:8566 A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which are transmitted_by direct contact with an active lesion or body fluid of an infected person. url:http://en.wikipedia.org/wiki/Herpes_simplex url:https://www.aad.org/public/diseases/a-z/herpes-simplex-overview A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. DOID:0060059 DOID:8652 DOID:8671 DOID:8685 DOID:8710 DOID:8715 DOID:8841 DOID:8953 DOID:9096 DOID:9107 EFO:0000183 GARD:2714 ICD10CM:C81 ICD9CM:201 MESH:D006689 MIM:236000 MIM:300221 MIM:400021 NCI:C9357 ORDO:98293 SNOMEDCT_US_2023_03_01:118599009 UMLS_CUI:C0019829 HL Hodgkin disease Hodgkin lymphoma Hodgkin's sarcoma Hodgkins lymphoma stage I Subdiaphragmatic Hodgkin Lymphoma stage II Subdiaphragmatic Hodgkin Lymphoma disease_ontology DOID:8567 Xref MGI. OMIM mapping confirmed by DO. [SN]. Hodgkin's lymphoma MESH:D006689 NCI:C9357 DOID:8567 A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. url:https://en.wikipedia.org/wiki/Hodgkin%27s_lymphoma url:https://www.ncbi.nlm.nih.gov/pubmed/22835602 HL A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly. ICD10CM:B27 ICD9CM:075 MESH:D007244 NCI:C34726 SNOMEDCT_US_2023_03_01:154359004 UMLS_CUI:C0021345 Filatov's disease Gammaherpesviral mononucleosis Monocytic angina Pfeiffer's disease glandular fever mononucleosis disease_ontology DOID:8568 infectious mononucleosis DOID:8568 A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly. url:http://en.wikipedia.org/wiki/Infectious_mononucleosis url:https://www.cdc.gov/epstein-barr/about/mononucleosis.html An amino acid metabolic disorder that involves failures of carboxylation enzymes. GARD:3824 ICD10CM:D81.81 MESH:D009100 SNOMEDCT_US_2023_03_01:62151000119109 UMLS_CUI:C0026755 disease_ontology DOID:857 multiple carboxylase deficiency MESH:D009100 DOID:857 An amino acid metabolic disorder that involves failures of carboxylation enzymes. url:http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=148 ICD10CM:L44.1 ICD9CM:697.1 MESH:D017513 SNOMEDCT_US_2023_03_01:41890004 UMLS_CUI:C0162849 Pinkus' disease disease_ontology DOID:8573 lichen nitidus DOID:8573 ICD10CM:L28.0 ICD9CM:697.9 SNOMEDCT_US_2023_03_01:156376003 UMLS_CUI:C0023643 disease_ontology DOID:8574 lichen disease DOID:8574 A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. DOID:8576 DOID:9016 EFO:0000729 ICD10CM:K51 ICD9CM:556 ICD9CM:556.5 MESH:D003093 NCI:C2952 SNOMEDCT_US_2023_03_01:196988003 SNOMEDCT_US_2023_03_01:441971007 UMLS_CUI:C0009324 UMLS_CUI:C0375359 Left-sided ulcerative colitis disease_ontology DOID:8577 OMIM mapping confirmed by DO. [LS]. ulcerative colitis DOID:8577 A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. url:http://en.wikipedia.org/wiki/Ulcerative_colitis url:https://meshb.nlm.nih.gov/record/ui?ui=D003093 ICD10CM:C05.1 ICD9CM:145.3 NCI:C3529 SNOMEDCT_US_2023_03_01:94049001 UMLS_CUI:C0153376 malignant tumor of soft palate malignant tumor of the soft Palate disease_ontology DOID:8578 soft palate cancer DOID:8578 DOID:8579 Stewart's granuloma disease_ontology DOID:8580 obsolete malignant histiocytosis true DOID:8580 Burkitt's lymphoma of intrathoracic lymph nodes (disorder) disease_ontology DOID:8583 obsolete Burkitt's tumor or lymphoma involving intrathoracic lymph nodes true DOID:8583 A mature B-cell neoplasm of B-cells found in the germinal center. GARD:5973 ICD10CM:C83.7 ICD9CM:200.2 ICDO:9687/3 MESH:D002051 MIM:113970 NCI:C2912 ORDO:543 SNOMEDCT_US_2023_03_01:118617000 UMLS_CUI:C0006413 Burkitt lymphoma/leukaemia Burkitt's Lymphoma Burkitt's tumor Burkitt's tumor or lymphoma malignant lymphoma, Burkitt's type small Non-Cleaved cell Lymphoma, Burkitt's type disease_ontology DOID:8584 OMIM mapping confirmed by DO. [SN]. Burkitt lymphoma DOID:8584 A mature B-cell neoplasm of B-cells found in the germinal center. url:http://en.wikipedia.org/wiki/Burkitt%27s_lymphoma url:http://www.cancer.gov/dictionary?CdrID=45203 DOID:8585 DOID:8796 Cervix Dysplasia Dysplasia of cervix (disorder) Dysplasia of cervix (uteri) Dysplasia of cervix NOS (disorder) Dysplasia of cervix uteri Dysplasia of cervix uteri (disorder) Low-grade Intraepithelial Neoplasia of Cervix Uteri Mild dysplasia of cervix Moderate dysplasia of cervix Moderate squamous Dysplasia of the Cervix cervical dysplasia cervical dysplasia NOS cervical intraepithelial neoplasia I [CIN I] cervical intraepithelial neoplasia grade 1 cervical intraepithelial neoplasia grade 1 (disorder) cervical intraepithelial neoplasia grade 2 cervical intraepithelial neoplasia grade 2 (disorder) disease_ontology DOID:8586 obsolete dysplasia of cervix true DOID:8586 disease_ontology DOID:8587 obsolete Burkitt's tumor or lymphoma extranodal and solid organ sites true DOID:8587 A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. GARD:2721 ICD10CM:D81.818 MESH:D028922 MIM:253270 NCI:C98842 SNOMEDCT_US_2023_03_01:15307001 UMLS_CUI:C0268581 Biotin-(propionyl-CoA-carboxylase) ligase deficiency Multiple carboxylase deficiency - neonatal onset disease_ontology DOID:859 OMIM mapping confirmed by DO. [SN]. holocarboxylase synthetase deficiency DOID:859 A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. url:http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency ICD9CM:557.0 NCI:C34356 SNOMEDCT_US_2023_03_01:91489000 UMLS_CUI:C0001363 acute GIT vascular insuffic. acute gastrointestinal tract vascular insuffic. acute intestinal Ischemia acute intestinal vascular insufficiency disease_ontology DOID:8590 acute vascular insufficiency of intestine DOID:8590 Reticulosarcoma of lymph nodes of inguinal region and lower limb (disorder) disease_ontology DOID:8592 obsolete reticulosarcoma involving lymph nodes of inguinal region and lower limb true DOID:8592 DOID:9194 ICD10CM:C93.1 ICD9CM:206.1 MESH:D007951 NCI:C34774 SNOMEDCT_US_2023_03_01:46236001 UMLS_CUI:C0023466 disease_ontology DOID:8593 chronic monocytic leukemia DOID:8593 An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash. DOID:8597 ICD10CM:A38 ICD9CM:034 ICD9CM:034.1 MESH:D012541 NCI:C94575 SNOMEDCT_US_2023_03_01:154301006 SNOMEDCT_US_2023_03_01:154303009 UMLS_CUI:C0036285 UMLS_CUI:C0343487 Scarlatina disease_ontology DOID:8596 scarlet fever DOID:8596 An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash. url:https://www.merriam-webster.com/dictionary/scarlet%20fever#medicalDictionary disease_ontology DOID:8598 obsolete mild degree recurrent episode manic disorder true DOID:8598 Sezary's disease of lymph nodes of inguinal region and lower limb (disorder) Szary's disease of lymph nodes of inguinal region and/or lower limb disease_ontology DOID:8599 obsolete Sezary's disease involving lymph nodes of inguinal region and lower limb true DOID:8599 Excessive serotonin secretion Hormone secretion by carcinoid tumors disease_ontology Hormonal tumour DOID:8600 obsolete carcinoid syndrome true DOID:8600 ICD10CM:C03.0 ICD9CM:143.0 SNOMEDCT_US_2023_03_01:94114005 UMLS_CUI:C0153365 malignant tumor of upper gingiva malignant tumour of upper gum disease_ontology DOID:8601 upper gum cancer DOID:8601 DOID:8734 ICD10CM:C03 ICD9CM:143 NCI:C9317 SNOMEDCT_US_2023_03_01:93819009 UMLS_CUI:C0153364 malignant Gingival tumor malignant neoplasm of gum malignant neoplasm of other sites of gum malignant tumor of gum malignant tumour of gingiva disease_ontology DOID:8602 gum cancer DOID:8602 Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of intrapelvic lymph nodes [dup] (disorder) disease_ontology Hodgkin's disease, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes DOID:8604 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrapelvic lymph nodes true DOID:8604 A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2) and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes. ICD9CM:054.6 NCI:C128402 SNOMEDCT_US_2023_03_01:43891009 UMLS_CUI:C0153042 Herpetic felon disease_ontology DOID:8607 herpetic whitlow DOID:8607 A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2) and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes. url:http://en.wikipedia.org/wiki/Herpetic_whitlow url:https://dermnetnz.org/topics/herpetic-whitlow url:https://www.ncbi.nlm.nih.gov/books/NBK482379/ disease_ontology DOID:8609 obsolete moderate degree recurrent episode manic disease true DOID:8609 disease_ontology DOID:8611 obsolete drug induced sleep disorder true DOID:8611 DOID:8889 spontaneous abortion complicated by shock (disorder) spontaneous abortion, unspecified, complicated by shock disease_ontology DOID:8615 obsolete spontaneous abortion complicated by shock true DOID:8615 GARD:7379 ICD10CM:N48.6 ICD9CM:607.85 MESH:D010411 MIM:171000 NCI:C3316 SNOMEDCT_US_2023_03_01:155931002 UMLS_CUI:C0030848 Induratio penis plastica Peyronie disease Peyronie's Fibromatosis disease_ontology DOID:8616 OMIM mapping confirmed by DO. [SN]. Peyronie's disease DOID:8616 A gastrointestinal system cancer that is located_in the oral cavity. DOID:0050627 DOID:8617 DOID:9049 DOID:9055 GARD:9360 ICD10CM:C04 ICD10CM:C04.0 ICD10CM:C04.1 ICD9CM:144 ICD9CM:144.0 ICD9CM:144.1 NCI:C9318 SNOMEDCT_US_2023_03_01:93672006 SNOMEDCT_US_2023_03_01:93802007 SNOMEDCT_US_2023_03_01:93860002 UMLS_CUI:C0153368 UMLS_CUI:C0153369 UMLS_CUI:C0496758 malignant neoplasm of floor of mouth disease_ontology DOID:8618 oral cavity cancer DOID:8618 A gastrointestinal system cancer that is located_in the oral cavity. url:http://en.wikipedia.org/wiki/Oral_cancer A sleep disorder that involves recurring bouts of excessive amounts of sleepiness. ICD10CM:G47.13 ICD9CM:327.13 MESH:D006970 SNOMEDCT_US_2023_03_01:426451004 UMLS_CUI:C0751226 primary recurrent hypersomnia disease_ontology DOID:8619 recurrent hypersomnia DOID:8619 A sleep disorder that involves recurring bouts of excessive amounts of sleepiness. url:http://en.wikipedia.org/wiki/Hypersomnia ICD10CM:G83.0 ICD9CM:344.2 SNOMEDCT_US_2023_03_01:192968004 UMLS_CUI:C0154701 Diplegia of upper limbs Diplegia, upper disease_ontology DOID:862 diplegia of upper limb DOID:862 Reticulosarcoma of intrapelvic lymph nodes Reticulosarcoma of intrapelvic lymph nodes (disorder) disease_ontology DOID:8620 obsolete reticulosarcoma involving intrapelvic lymph nodes true DOID:8620 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus (Morbillivirus hominis), which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. DOID:8621 DOID:8963 DOID:9112 ICD10CM:B05 ICD9CM:055 MESH:D008457 NCI:C96406 SNOMEDCT_US_2023_03_01:154338006 UMLS_CUI:C0025007 morbilli rubeola disease_ontology DOID:8622 measles DOID:8622 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus (Morbillivirus hominis), which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. url:http://en.wikipedia.org/wiki/Measles url:https://www.cdc.gov/measles/ url:https://www.ncbi.nlm.nih.gov/books/NBK448068/ disease_ontology DOID:8623 obsolete adhesions and disruptions of pupillary membranes true DOID:8623 A viral infectious disease that results_in pain located_in trigeminal nerve, has_material_basis_in Human herpesvirus 3, which reactivates after the initial infection. The infection has_symptom facial pain. Post-herpetic trigeminal neuralgia Post-herpetic trigeminal neuralgia (disorder) disease_ontology DOID:8625 obsolete postherpetic trigeminal neuralgia true DOID:8625 A viral infectious disease that results_in pain located_in trigeminal nerve, has_material_basis_in Human herpesvirus 3, which reactivates after the initial infection. The infection has_symptom facial pain. url:http://www.jmedicalcasereports.com/content/3/1/7813 url:http://www.merckmanuals.com/home/sec06/ch096/ch096e.html Sezary's disease of spleen (disorder) Szary's disease of spleen (disorder) disease_ontology DOID:8626 obsolete Sezary's disease involving spleen true DOID:8626 Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's disease, lymphocytic depletion of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology Hodgkin's disease, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb DOID:8627 obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of inguinal region and lower limb true DOID:8627 DOID:9047 ICD10CM:C81.3 ICD9CM:201.7 MESH:D006689 NCI:C9283 SNOMEDCT_US_2023_03_01:112687003 UMLS_CUI:C0152267 Hodgkin lymphoma, lymphocyte depletion Hodgkin's disease, lymphocytic depletion Hodgkin's lymphocytic depletion of unspecified site Lymphocyte-Depleted Classical Hodgkin Lymphoma disease_ontology DOID:8628 Hodgkin's lymphoma, lymphocytic depletion DOID:8628 A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. ICD10CM:G98 ICD9CM:349.9 MESH:D009422 NCI:C26835 SNOMEDCT_US_2023_03_01:155262005 UMLS_CUI:C0027765 disease_ontology DOID:863 nervous system disease DOID:863 A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. url:http://en.wikipedia.org/wiki/Nervous_system DOID:8984 ICD10CM:C00.0 ICD10CM:C00.3 ICD9CM:140.0 ICD9CM:140.3 SNOMEDCT_US_2023_03_01:187609003 SNOMEDCT_US_2023_03_01:94137004 UMLS_CUI:C0432579 UMLS_CUI:C0474962 disease_ontology DOID:8630 upper lip cancer DOID:8630 A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (Rhadinovirus humangamma8). DOID:12761 DOID:12762 DOID:12764 DOID:12766 DOID:12767 DOID:12768 DOID:12770 DOID:12771 DOID:12772 DOID:12774 DOID:12775 DOID:12776 DOID:12777 DOID:12778 DOID:6480 DOID:7239 DOID:8631 GARD:6814 ICD10CM:C46 ICD10CM:C46.0 ICD10CM:C46.1 ICD10CM:C46.2 ICD10CM:C46.3 ICD10CM:C46.4 ICD10CM:C46.5 ICD9CM:176 ICD9CM:176.0 ICD9CM:176.1 ICD9CM:176.2 ICD9CM:176.3 ICD9CM:176.4 ICD9CM:176.5 MESH:D012514 NCI:C27500 NCI:C3550 NCI:C3551 NCI:C4578 NCI:C4579 NCI:C5363 NCI:C5523 NCI:C5529 NCI:C5602 NCI:C5706 NCI:C5842 NCI:C6377 NCI:C6749 NCI:C7006 NCI:C9087 SNOMEDCT_US_2023_03_01:109385007 SNOMEDCT_US_2023_03_01:109388009 SNOMEDCT_US_2023_03_01:109390005 SNOMEDCT_US_2023_03_01:188029000 SNOMEDCT_US_2023_03_01:188144002 SNOMEDCT_US_2023_03_01:188775002 SNOMEDCT_US_2023_03_01:255114007 SNOMEDCT_US_2023_03_01:255115008 UMLS_CUI:C0036220 UMLS_CUI:C0153560 UMLS_CUI:C0153561 UMLS_CUI:C0153562 UMLS_CUI:C0153563 UMLS_CUI:C0153564 UMLS_CUI:C0153565 UMLS_CUI:C0346935 UMLS_CUI:C0346936 UMLS_CUI:C1332265 UMLS_CUI:C1332847 UMLS_CUI:C1333453 UMLS_CUI:C1333744 UMLS_CUI:C1333776 UMLS_CUI:C1334318 UMLS_CUI:C1334457 UMLS_CUI:C1335372 UMLS_CUI:C1335509 Kaposi sarcoma Kaposi's sarcoma of Heart Kaposi's sarcoma of anus Kaposi's sarcoma of central nervous system Kaposi's sarcoma of conjunctiva Kaposi's sarcoma of cornea Kaposi's sarcoma of esophagus Kaposi's sarcoma of gastrointestinal sites Kaposi's sarcoma of lung Kaposi's sarcoma of lymph nodes Kaposi's sarcoma of palate Kaposi's sarcoma of penis Kaposi's sarcoma of skin Kaposi's sarcoma of soft tissue Kaposi's sarcoma of soft tissues Kaposi's sarcoma of the CNS Kaposi's sarcoma of the gallbladder Kaposi's sarcoma of the prostate Kaposi's sarcoma, lung Kaposi's sarcoma, skin anal Kaposi's sarcoma cardiac Kaposi's sarcoma central nervous system Kaposi's sarcoma conjunctival Kaposi's sarcoma corneal Kaposi's sarcoma cutaneous Kaposi's sarcoma esophageal Kaposi's sarcoma gallbladder Kaposi's sarcoma gastric Kaposi's sarcoma intestinal Kaposi's sarcoma lymph node Kaposi's sarcoma lymphadenopathic Kaposi's sarcoma palate Kaposi's sarcoma penis Kaposi's sarcoma prostate Kaposi's sarcoma pulmonary Kaposi's sarcoma soft tissue Kaposi's sarcoma disease_ontology African lymphadenopathic Kaposi's sarcoma Kaposi's sarcoma-associated herpesvirus (KSHV) DOID:8632 OMIM mapping confirmed by DO. [SN]. Kaposi's sarcoma DOID:8632 A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (Rhadinovirus humangamma8). url:http://cancerres.aacrjournals.org/content/58/8/1599.full.pdf url:http://en.wikipedia.org/wiki/Kaposi%27s_sarcoma ICD9CM:557.1 SNOMEDCT_US_2023_03_01:266448009 UMLS_CUI:C0311262 CMI - chronic mesenteric ischaemia chronic mesenteric ischemia disease_ontology DOID:8633 chronic intestinal vascular insufficiency DOID:8633 An in situ carcinoma that is located_in the prostate. ICD10CM:D07.5 ICD9CM:233.4 SNOMEDCT_US_2023_03_01:92691004 UMLS_CUI:C0154088 PIN III carcinoma in situ of prostate grade III PIN disease_ontology DOID:8634 prostate carcinoma in situ DOID:8634 An in situ carcinoma that is located_in the prostate. url:https://www.ncbi.nlm.nih.gov/pubmed/25046199 PIN III ICD10CM:C05.2 ICD9CM:145.4 NCI:C35177 SNOMEDCT_US_2023_03_01:94129007 UMLS_CUI:C0153377 malignant Uvular tumor malignant tumor of uvula disease_ontology DOID:8635 uvula cancer DOID:8635 Hodgkin's disease, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of intra-abdominal lymph nodes [dup] (disorder) disease_ontology DOID:8638 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intra-abdominal lymph nodes true DOID:8638 Alcohol Withdrawal Delirium Alcohol withdrawal delirium (disorder) Alcoholic delirium Delirium tremens Mental and behavioral disorder due to use of alcohol: withdrawal state with delirium (disorder) delirium tremens disease_ontology DOID:8639 obsolete alcohol withdrawal delirium true DOID:8639 A vein disease that is characterized by inflammation of a vein. ICD10CM:I80 MESH:D010689 NCI:C38003 SNOMEDCT_US_2023_03_01:61599003 UMLS_CUI:C0031542 disease_ontology DOID:864 phlebitis DOID:864 A vein disease that is characterized by inflammation of a vein. url:http://en.wikipedia.org/wiki/Phlebitis Reticulosarcoma of lymph nodes of multiple sites Reticulosarcoma of lymph nodes of multiple sites (disorder) disease_ontology DOID:8640 obsolete reticulosarcoma involving lymph nodes of multiple sites true DOID:8640 Hodgkin's paragranuloma of lymph nodes of axilla and upper limb (disorder) Hodgkin's paragranuloma of lymph nodes of axilla and/or upper limb (disorder) disease_ontology DOID:8641 obsolete Hodgkin's paragranuloma involving lymph nodes of axilla and upper limb true DOID:8641 DOID:8951 DOID:8972 UMLS_CUI:C0019829 Hodgkin paragranuloma disease_ontology DOID:8642 Hodgkin's paragranuloma DOID:8642 DOID:8897 DOID:8983 ICD10CM:K29.8 ICD9CM:535.6 MESH:D004382 NCI:C94409 SNOMEDCT_US_2023_03_01:155715004 UMLS_CUI:C0013298 Hemorrhagic duodenitis disease_ontology DOID:8643 duodenitis DOID:8643 DOID:8571 DOID:8572 DOID:8759 DOID:8776 DOID:8777 DOID:9223 ICD9CM:535.4 SNOMEDCT_US_2023_03_01:196737009 UMLS_CUI:C0029800 disease_ontology DOID:8644 gastroduodenitis DOID:8644 ICD9CM:293.1 MESH:D003693 SNOMEDCT_US_2023_03_01:191507002 UMLS_CUI:C0154333 disease_ontology DOID:8645 subacute delirium DOID:8645 ICD9CM:293.89 UMLS_CUI:C0154334 disease_ontology DOID:8646 substance-induced psychosis DOID:8646 DOID:8648 DOID:8779 DOID:8900 DOID:8940 DOID:8999 DOID:9058 DOID:9068 DOID:9196 GARD:7779 ICD10CM:C01 ICD10CM:C02.0 ICD10CM:C02.1 ICD10CM:C02.2 ICD10CM:C02.4 ICD10CM:C02.9 ICD9CM:141 ICD9CM:141.0 ICD9CM:141.1 ICD9CM:141.2 ICD9CM:141.3 ICD9CM:141.5 ICD9CM:141.6 MESH:D014062 NCI:C3524 NCI:C9345 SNOMEDCT_US_2023_03_01:187644001 SNOMEDCT_US_2023_03_01:363376007 SNOMEDCT_US_2023_03_01:363377003 SNOMEDCT_US_2023_03_01:93773005 SNOMEDCT_US_2023_03_01:94100005 SNOMEDCT_US_2023_03_01:94101009 SNOMEDCT_US_2023_03_01:94134006 UMLS_CUI:C0153349 UMLS_CUI:C0153350 UMLS_CUI:C0153351 UMLS_CUI:C0153356 UMLS_CUI:C0474963 UMLS_CUI:C0496755 UMLS_CUI:C0684333 malignant neoplasm of tongue disease_ontology DOID:8649 tongue cancer DOID:8649 A vascular disease that is characterized by inflammation of the blood vessels. GARD:9565 MESH:D014657 NCI:C26912 SNOMEDCT_US_2023_03_01:195375002 UMLS_CUI:C0042384 Angiitis disease_ontology DOID:865 vasculitis DOID:865 A vascular disease that is characterized by inflammation of the blood vessels. url:http://en.wikipedia.org/wiki/Vasculitis url:http://www.nhlbi.nih.gov/health/health-topics/topics/vas/ url:http://www.nlm.nih.gov/medlineplus/vasculitis.html Hodgkin's granuloma of intrapelvic lymph nodes Hodgkin's granuloma of intrapelvic lymph nodes (disorder) disease_ontology DOID:8650 obsolete Hodgkin's granuloma involving intrapelvic lymph nodes true DOID:8650 DOID:9102 Hodgkin granuloma disease_ontology DOID:8651 Hodgkin's granuloma DOID:8651 Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes Hodgkin's disease, mixed cellularity of intrathoracic lymph nodes (disorder) disease_ontology Hodgkin's disease, mixed cellularity, involving intrathoracic lymph nodes DOID:8653 obsolete Hodgkin's lymphoma, mixed cellularity, involving intrathoracic lymph nodes true DOID:8653 ICD10CM:C81.2 ICD9CM:201.6 MESH:D006689 NCI:C3517 SNOMEDCT_US_2023_03_01:118609008 UMLS_CUI:C0152266 Hodgkin's disease, mixed cellularity disease_ontology DOID:8654 Hodgkin's lymphoma, mixed cellularity DOID:8654 disease_ontology DOID:8656 obsolete Sezary's disease involving lymph nodes of multiple sites true DOID:8656 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters. DOID:8658 DOID:8693 DOID:9243 ICD10CM:B01.9 ICD9CM:052 MESH:D002644 NCI:C97132 SNOMEDCT_US_2023_03_01:38907003 SNOMEDCT_US_2025_05_01:186508005 UMLS_CUI:C0008049 varicella disease_ontology DOID:8659 chickenpox ICD10CM:B01.9 MESH:D002644 NCI:C97132 UMLS_CUI:C0008049 DOID:8659 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters. url:https://medlineplus.gov/chickenpox.html url:https://www.cdc.gov/chickenpox/about/index.html url:https://www.ncbi.nlm.nih.gov/books/NBK448191/ A vascular disease that is located_in a vein. ICD10CM:I82 ICD9CM:453 SNOMEDCT_US_2023_03_01:195435006 UMLS_CUI:C0155774 disease_ontology DOID:866 vein disease DOID:866 A vascular disease that is located_in a vein. url:http://en.wikipedia.org/wiki/Vein#Venous_diseases ICD10CM:C13.0 ICD9CM:148.0 NCI:C9323 SNOMEDCT_US_2023_03_01:93967000 UMLS_CUI:C0496769 malignant Postcricoid tumor malignant tumor of pharyngoesophageal junction disease_ontology DOID:8660 postcricoid region cancer DOID:8660 An oral cavity carcinoma in situ that is located_in the lip. ICD10CM:D00.0 ICD9CM:230.0 SNOMEDCT_US_2023_03_01:189210009 UMLS_CUI:C0154058 disease_ontology DOID:8661 lip carcinoma in situ DOID:8661 An oral cavity carcinoma in situ that is located_in the lip. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1465369/ A carcinoma in situ that is characterized by the spread of cancer in the digestive organ and the lack of invasion of surrounding tissues. DOID:9018 carcinoma in situ of digestive organ carcinoma in situ of digestive organ (disorder) carcinoma in situ of digestive organ NOS carcinoma in situ of digestive organ, unspecified (disorder) carcinoma in situ of digestive organs carcinoma in situ of digestive organs NOS (disorder) carcinoma in situ of other and unspecified digestive organs (disorder) disease_ontology DOID:8662 obsolete carcinoma in situ of digestive organ true DOID:8662 A carcinoma in situ that is characterized by the spread of cancer in the digestive organ and the lack of invasion of surrounding tissues. url:http://en.wikipedia.org/wiki/Carcinoma_in_situ ICD10CM:C13.1 ICD9CM:148.2 SNOMEDCT_US_2023_03_01:187708004 UMLS_CUI:C0153401 malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold malignant tumor aryepiglottic fold - hypopharyngeal aspect disease_ontology DOID:8663 aryepiglottic fold cancer DOID:8663 nodular lymphoma of intrapelvic lymph nodes nodular lymphoma of intrapelvic lymph nodes (disorder) disease_ontology DOID:8664 obsolete nodular lymphoma involving intrapelvic lymph nodes true DOID:8664 Hodgkin's sarcoma of intra-abdominal lymph nodes Hodgkin's sarcoma of intra-abdominal lymph nodes (disorder) disease_ontology DOID:8667 obsolete Hodgkin's sarcoma involving intra-abdominal lymph nodes true DOID:8667 A cholesteatoma located_in paranasal sinus. NCI:C35868 UMLS_CUI:C1334644 disease_ontology DOID:867 maxillary sinus cholesteatoma DOID:867 A cholesteatoma located_in paranasal sinus. url:https://www.ncbi.nlm.nih.gov/pubmed/1503726 A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health. ICD10CM:F50 ICD9CM:307.50 MESH:D001068 NCI:C89332 SNOMEDCT_US_2023_03_01:72366004 UMLS_CUI:C0013473 disease_ontology DOID:8670 eating disorder DOID:8670 A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health. url:http://en.wikipedia.org/wiki/Eating_disorder An exanthem that has_material_basis_in viruses. DOID:8730 DOID:8744 DOID:9213 ICD9CM:057.8 SNOMEDCT_US_2023_03_01:186577001 UMLS_CUI:C0029841 disease_ontology DOID:8672 viral exanthem DOID:8672 An exanthem that has_material_basis_in viruses. url:https://my.clevelandclinic.org/health/diseases/22510-viral-exanthem-rash url:https://www.pcds.org.uk/clinical-guidance/viral-exanthems disease_ontology DOID:8674 obsolete lymphosarcoma involving intrapelvic lymph nodes true DOID:8674 A sarcoma that has_material_basis_in lymphatic tissue. DOID:8967 disease_ontology DOID:8675 lymphosarcoma has been obsoleted in NCI. obsolete ymphosarcoma true DOID:8675 A sarcoma that has_material_basis_in lymphatic tissue. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/lymphosarcoma malignant histiocytosis of lymph nodes of multiple sites (disorder) disease_ontology DOID:8676 obsolete malignant histiocytosis involving lymph nodes of multiple sites true DOID:8676 ICD10CM:K55.3 MESH:D020345 UMLS_CUI:C0520459 ENTEROCOLITIS NECROTIZING Necrotizing enterocolitis in fetus OR newborn Perinatal necrotising enterocolitis Pseudomembranous enterocolitis in newborn necrotizing enterocolitis disease_ontology DOID:8677 perinatal necrotizing enterocolitis DOID:8677 DOID:8957 DOID:9154 ICD10CM:K29.2 ICD9CM:535.3 NCI:C26977 SNOMEDCT_US_2023_03_01:155714000 UMLS_CUI:C0156076 Alcoholic gastritis, with hemorrhage Alcoholic gastritis, without mention of hemorrhage disease_ontology DOID:8680 alcoholic gastritis DOID:8680 ICD9CM:357.3 MESH:D020364 NCI:C3981 SNOMEDCT_US_2023_03_01:77659000 UMLS_CUI:C0270932 disease_ontology DOID:8681 paraneoplastic polyneuropathy DOID:8681 DOID:8682 DOID:8848 GARD:12763 ICD10CM:C92.3 ICDO:9930/3 MESH:D023981 NCI:C35815 SNOMEDCT_US_2023_03_01:188738007 UMLS_CUI:C0152276 Chloroma Extramedullary Myeloid tumor Granulocytic sarcoma disease_ontology DOID:8683 myeloid sarcoma DOID:8683 A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues. DOID:8686 DOID:8699 DOID:8817 DOID:8831 DOID:8880 DOID:8989 DOID:9000 DOID:9185 DOID:9221 ICD10CM:D04 ICD10CM:D04.0 ICD10CM:D04.2 ICD10CM:D04.3 ICD10CM:D04.4 ICD10CM:D04.6 ICD10CM:D04.7 ICD9CM:232 ICD9CM:232.0 ICD9CM:232.2 ICD9CM:232.3 ICD9CM:232.4 ICD9CM:232.5 ICD9CM:232.6 ICD9CM:232.7 NCI:C3640 SNOMEDCT_US_2023_03_01:189276007 SNOMEDCT_US_2023_03_01:189291009 SNOMEDCT_US_2023_03_01:189295000 SNOMEDCT_US_2023_03_01:190179004 SNOMEDCT_US_2023_03_01:255144005 SNOMEDCT_US_2023_03_01:92735004 SNOMEDCT_US_2023_03_01:92747005 SNOMEDCT_US_2023_03_01:92749008 UMLS_CUI:C0154073 UMLS_CUI:C0154074 UMLS_CUI:C0154077 UMLS_CUI:C0154078 UMLS_CUI:C0154079 UMLS_CUI:C0154080 UMLS_CUI:C0154081 UMLS_CUI:C0347139 Cutaneous carcinoma in situ disease_ontology carcinoma in situ of skin DOID:8687 skin carcinoma in situ DOID:8687 A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues. url:http://en.wikipedia.org/wiki/Carcinoma_in_situ ICD10CM:C09.1 ICD9CM:146.2 SNOMEDCT_US_2023_03_01:187676006 UMLS_CUI:C0153385 malignant neoplasm of tonsillar pillar malignant neoplasm of tonsillar pillars, posterior malignant tumor of tonsillar pillar malignant tumour of tonsillar pillar disease_ontology DOID:8688 tonsillar pillar cancer DOID:8688 An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image. ICD10CM:F50.0 ICD9CM:307.1 MESH:D000856 NCI:C34387 SNOMEDCT_US_2023_03_01:192445002 UMLS_CUI:C0003125 disease_ontology DOID:8689 anorexia nervosa DOID:8689 An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image. url:http://en.wikipedia.org/wiki/Anorexia_nervosa A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction. GARD:10422 ICD10CM:H71.9 ICD9CM:385.30 MESH:D002781 NCI:C2944 SNOMEDCT_US_2023_03_01:155244001 UMLS_CUI:C0008373 disease_ontology DOID:869 cholesteatoma DOID:869 A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction. url:https://en.wikipedia.org/wiki/Cholesteatoma url:https://www.ncbi.nlm.nih.gov/pubmed/26223725 Mycosis fungoides involving lymph nodes of head, face and neck Mycosis fungoides of lymph nodes of head, face and/or neck (disorder) Mycosis fungoides of the lymph nodes of head, face and neck (disorder) disease_ontology DOID:8690 obsolete Mycosis fungoides involving lymph nodes of head, face, and neck true DOID:8690 DOID:8737 GARD:3863 ICD10CM:C84.0 ICD9CM:202.1 ICDO:9700/3 MESH:D009182 MIM:254400 NCI:C3246 SNOMEDCT_US_2023_03_01:118618005 UMLS_CUI:C0026948 mycosis fungoides lymphoma disease_ontology DOID:8691 OMIM mapping confirmed by DO. [SN]. mycosis fungoides DOID:8691 A leukemia that is located_in myeloid tissue. DOID:8878 DOID:8879 DOID:8910 DOID:9066 DOID:9126 GARD:8226 ICD10CM:C92 ICD9CM:205 ICDO:9860/3 MESH:D007951 NCI:C3172 SNOMEDCT_US_2023_03_01:269631008 UMLS_CUI:C0023470 Non-Lymphocytic Leukemia leukaemia myelogenous leukemia myelogenous myeloid granulocytic leukaemia myeloid granulocytic leukemia myeloid leukaemia disease_ontology DOID:8692 myeloid leukemia DOID:8692 A leukemia that is located_in myeloid tissue. url:http://en.wikipedia.org/wiki/Myeloid_leukemia DOID:8898 ICD9CM:206.2 SNOMEDCT_US_2023_03_01:95276000 UMLS_CUI:C0152275 disease_ontology DOID:8696 subacute monocytic leukemia DOID:8696 A nervous system disease that is located_in nerves or nerve cells. ICD10CM:G62.9 NCI:C4731 SNOMEDCT_US_2023_03_01:42658009 UMLS_CUI:C0442874 peripheral neuropathy disease_ontology DOID:870 neuropathy DOID:870 A nervous system disease that is located_in nerves or nerve cells. url:http://en.wikipedia.org/wiki/Neuropathy_%28disambiguation%29 Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face and neck Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and neck (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of head, face and/or neck (disorder) disease_ontology Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck DOID:8701 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of head, face, and neck true DOID:8701 ICD10CM:C06.0 ICD9CM:145.0 NCI:C9320 SNOMEDCT_US_2023_03_01:93735006 UMLS_CUI:C0153373 malignant neoplasm of buccal mucosa malignant neoplasm of cheek, inner aspect malignant neoplasm of the Buccal Mucosa malignant tumor of buccal mucosa disease_ontology DOID:8702 cheek mucosa cancer DOID:8702 A genital herpes that results_in infection located_in skin of penis, has_material_basis_in Human herpesvirus 1 and Human herpesvirus 2 and has_symptom lesions, and has_symptom swollen glands in the groin area. Herpetic infection of penis (disorder) disease_ontology DOID:8703 obsolete penis herpetic infectious disease true DOID:8703 A genital herpes that results_in infection located_in skin of penis, has_material_basis_in Human herpesvirus 1 and Human herpesvirus 2 and has_symptom lesions, and has_symptom swollen glands in the groin area. url:http://kidshealth.org/parent/infections/std/herpes.htm A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands. DOID:8982 ICD10CM:A60 ICD9CM:054.1 MESH:D006558 NCI:C14364 SNOMEDCT_US_2025_05_01:33839006 UMLS_CUI:C0019342 Genital herpes simplex Herpes Genitalis Virus-Genital Herpes venereal herpes disease_ontology DOID:8704 genital herpes ICD10CM:A60 ICD9CM:054.1 MESH:D006558 NCI:C14364 UMLS_CUI:C0019342 DOID:8704 A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands. url:https://medlineplus.gov/genitalherpes.html url:https://www.cdc.gov/herpes/about/ DOID:14750 DOID:8711 DOID:9137 GARD:10420 ICD10CM:Q85.0 ICD9CM:237.7 MESH:D017253 NCI:C6727 ORDO:634518 SNOMEDCT_US_2023_03_01:19133005 UMLS_CUI:C0162678 UMLS_CUI:C0495632 disease_ontology DOID:8712 This disease may be obsoleted in the future. Diseases previously classified as neurofibromatosis 2 (DOID:0111252) and neurofibromatosis 3 (DOID:0070480 and DOID:0070481) have been reclassified by international consensus as subclasses of schwannomatosis. For details refer to definition sources for neurofibromatosis 1 (DOID:0111253). neurofibromatosis ORDO:634518 GARD:10420 ICD10CM:Q85.0 ICD9CM:237.7 MESH:D017253 NCI:C6727 SNOMEDCT_US_2023_03_01:19133005 UMLS_CUI:C0162678 UMLS_CUI:C0495632 ICD10CM:Q85.00 DOID:8712 DOID:8727 DOID:8728 DOID:8764 DOID:8789 DOID:8829 DOID:8890 DOID:8933 DOID:9044 DOID:9172 DOID:9209 Lymphosarcoma and reticulosarcoma (disorder) Other named variants of lymphosarcoma and reticulosarcoma Other named variants of lymphosarcoma and reticulosarcoma involving intra-abdominal lymph nodes Other named variants of lymphosarcoma and reticulosarcoma involving intrapelvic lymph nodes Other named variants of lymphosarcoma and reticulosarcoma involving intrathoracic lymph nodes Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of axilla and upper limb Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face and neck Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of head, face, and neck Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of inguinal region and lower limb Other named variants of lymphosarcoma and reticulosarcoma involving lymph nodes of multiple sites Other named variants of lymphosarcoma and reticulosarcoma involving spleen Other named variants of lymphosarcoma and reticulosarcoma, unspecified site disease_ontology DOID:8716 obsolete lymphosarcoma and reticulosarcoma true DOID:8716 A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure. DOID:8808 DOID:9002 DOID:9029 DOID:9129 ICD10CM:L89 ICD9CM:707.0 MESH:D003668 NCI:C50706 SNOMEDCT_US_2023_03_01:1163215007 UMLS_CUI:C4554531 Decubitus (pressure) ulcer Decubitus ulcer any site pressure sores pressure ulcer disease_ontology bedsore DOID:8717 decubitus ulcer DOID:8717 A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure. url:https://pubmed.ncbi.nlm.nih.gov/37590857/ url:https://www.ncbi.nlm.nih.gov/books/NBK553107/ A carcinoma in situ that is characterized by the spread of cancer in the respiratory system and the lack of invasion of surrounding tissues. DOID:8965 carcinoma in situ of respiratory tract (disorder) disease_ontology DOID:8718 obsolete carcinoma in situ of respiratory system true DOID:8718 A carcinoma in situ that is characterized by the spread of cancer in the respiratory system and the lack of invasion of surrounding tissues. url:http://en.wikipedia.org/wiki/Carcinoma_in_situ A carcinoma that is an early development defined by the absence of invasion of surrounding tissues. DOID:8793 DOID:8821 ICD10CM:D09.9 ICD9CM:230-234.99 MESH:D002278 NCI:C2917 SNOMEDCT_US_2023_03_01:189208007 UMLS_CUI:C0007099 disease_ontology DOID:8719 in situ carcinoma DOID:8719 A carcinoma that is an early development defined by the absence of invasion of surrounding tissues. url:http://en.wikipedia.org/wiki/Carcinoma_in_situ DOID:14 DOID:44 Connective and soft tissue disease Connective and soft tissue disorder disease of deep fascial system tissue disease disease_ontology DOID:872 obsolete soft tissue disease true DOID:872 A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain. DOID:13915 ICD10CM:F01 ICD9CM:290.4 MESH:D015140 MESH:D015161 NCI:C34522 NCI:C34525 SNOMEDCT_US_2023_03_01:192165000 SNOMEDCT_US_2023_03_01:56267009 UMLS_CUI:C0011263 UMLS_CUI:C0011269 Multi Infarct Dementia multifocal dementia disease_ontology DOID:8725 vascular dementia DOID:8725 A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain. url:http://www.mayoclinic.com/health/vascular-dementia/DS00934 url:http://www.nlm.nih.gov/medlineplus/ency/article/000739.htm A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus (Parapoxvirus pseudocowpox), which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy. ICD10CM:B08.04 ICD9CM:051.9 MESH:D011213 SNOMEDCT_US_2023_03_01:266193008 UMLS_CUI:C0026143 Milkers' node Paravaccinia milker nodule disease_ontology Pseudocowpox DOID:8729 milker's nodule DOID:8729 A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus (Parapoxvirus pseudocowpox), which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy. url:http://www.cfsph.iastate.edu/FastFacts/pdfs/pseudocowpox_F.pdf url:https://pmc.ncbi.nlm.nih.gov/articles/PMC3945082/ An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease. ICD9CM:482.81 UMLS_CUI:C0375327 pneumonia due to anaerobes disease_ontology DOID:873 anaerobic pneumonia DOID:873 An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease. url:http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery. ICD10CM:C75.4 ICD9CM:194.5 NCI:C3574 SNOMEDCT_US_2023_03_01:93740003 UMLS_CUI:C0153656 malignant Carotid body Paraganglioma malignant carotid body tumor disease_ontology cancer of carotid body DOID:8731 carotid body cancer DOID:8731 A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery. url:http://www.wrongdiagnosis.com/medical/carotid_body_tumor.htm A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus (Orthopoxvirus variola), which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk. GARD:7444 ICD10CM:B03 ICD9CM:050 MESH:D012899 NCI:C35027 SNOMEDCT_US_2023_03_01:266193008 UMLS_CUI:C0037354 Ordinary smallpox disease_ontology DOID:8736 smallpox DOID:8736 A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus (Orthopoxvirus variola), which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk. url:https://www.cdc.gov/smallpox/about/ url:https://www.ncbi.nlm.nih.gov/books/NBK470418/ url:https://www.who.int/health-topics/smallpox ICD10CM:N48.0 ICD9CM:607.0 MESH:D052798 NCI:C3151 SNOMEDCT_US_2023_03_01:266639006 UMLS_CUI:C0022782 Kraurosis of penis Penile Leukoplakia disease_ontology DOID:8738 leukoplakia of penis DOID:8738 A pneumonia involving inflammation of the lungs caused by bacteria. DOID:13815 ICD10CM:J15.9 ICD9CM:482.9 MESH:D018410 NCI:C26704 SNOMEDCT_US_2023_03_01:53084003 UMLS_CUI:C0004626 Pneumonia due to other gram-negative bacteria gram-negative pneumonia disease_ontology DOID:874 bacterial pneumonia DOID:874 A pneumonia involving inflammation of the lungs caused by bacteria. url:http://en.wikipedia.org/wiki/Bacterial_pneumonia A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss. DOID:8740 ICD10CM:L21 ICD9CM:690.1 MESH:D012628 NCI:C111888 SNOMEDCT_US_2023_03_01:156328004 UMLS_CUI:C0036508 SKIN SEBORRHEIC Seborrhoeic dermatitis Seborrhoeic eczema seborrhea disease_ontology DOID:8741 seborrheic dermatitis DOID:8741 A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss. url:http://www.nlm.nih.gov/medlineplus/ency/article/000963.htm Hodgkin's granuloma involving lymph nodes of head, face and neck Hodgkin's granuloma of lymph nodes of head, face and neck (disorder) Hodgkin's granuloma of lymph nodes of head, face and/or neck (disorder) disease_ontology DOID:8742 obsolete Hodgkin's granuloma involving lymph nodes of head, face, and neck true DOID:8742 A viral exanthem that has_material_basis_in Human parvovirus B19 (Erythroparvovirus primate1). ICD10CM:B08.3 ICD9CM:057.0 MESH:D016731 NCI:C84695 SNOMEDCT_US_2023_03_01:34730008 UMLS_CUI:C0085273 Fifth disease disease_ontology DOID:8743 erythema infectiosum DOID:8743 A viral exanthem that has_material_basis_in Human parvovirus B19 (Erythroparvovirus primate1). url:https://my.clevelandclinic.org/health/diseases/15774-fifth-disease url:https://www.ncbi.nlm.nih.gov/books/NBK513309/ chronic universal ulcerative colitis universal ulcerative (chronic) colitis disease_ontology DOID:8745 obsolete universal ulcerative colitis true DOID:8745 DOID:8746 DOID:8993 disease_ontology DOID:8747 obsolete subacute myeloid leukemia true DOID:8747 disease_ontology DOID:8748 obsolete acute dermatitis due to solar radiation true DOID:8748 disease_ontology DOID:8749 obsolete actinic reticuloid and actinic granuloma true DOID:8749 disease_ontology DOID:8751 obsolete Hodgkin's granuloma involving intrathoracic lymph nodes true DOID:8751 A pulmonary tuberculosis in which dissemination of the infection by Mycobacterium tuberculosis has occurred to parts of the same lung or the opposite lung through rupture of a caseous lymph node into a bronchus. DOID:14009 tuberculous bronchopneumonia disease_ontology DOID:8752 obsolete tuberculous pneumonia true DOID:8752 A pulmonary tuberculosis in which dissemination of the infection by Mycobacterium tuberculosis has occurred to parts of the same lung or the opposite lung through rupture of a caseous lymph node into a bronchus. url:http://www.bmj.com/cgi/reprint/1/4608/741.pdf Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb DOID:8754 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of inguinal region and lower limb true DOID:8754 DOID:9134 DOID:9242 ICD10CM:K29.6 ICD9CM:535.2 MESH:D005758 MIM:137280 NCI:C67277 SNOMEDCT_US_2023_03_01:60002000 UMLS_CUI:C0017155 Giant rugal hypertrophy of stomach MENETRIER DISEASE familial giant hypertrophic gastritis hypertrophic gastritis hypertrophic gastropathy disease_ontology DOID:8757 OMIM mapping confirmed by DO. [SN]. gastric mucosal hypertrophy DOID:8757 disease_ontology DOID:8758 obsolete lymphosarcoma involving lymph nodes of multiple sites true DOID:8758 GARD:4614 ICD10CM:M60.0 ICD9CM:040.81 MESH:D052880 NCI:C128382 SNOMEDCT_US_2023_03_01:186430009 UMLS_CUI:C0041188 Tropical pyomyositis disease_ontology DOID:876 pyomyositis DOID:876 An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers. DOID:9009 GARD:524 ICD10CM:C94.2 ICD9CM:207.2 ICDO:9910/3 MESH:D007947 NCI:C3170 SNOMEDCT_US_2023_03_01:52220008 UMLS_CUI:C0023462 Megakaryocytic myelosis Thrombocytic leukaemia disease_ontology DOID:8761 acute megakaryocytic leukemia DOID:8761 An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers. url:https://en.wikipedia.org/wiki/Acute_megakaryoblastic_leukemia url:https://pubmed.ncbi.nlm.nih.gov/26228843/ url:https://www.orpha.net/data/patho/GB/uk-AMLM7.pdf A Simplexvirus infectious disease that results_in inflammation located_in external ear, has_material_basis_in Human herpesvirus 1 or has-agent Human herpesvirus 2 and has_symptom vesicles in the ear canal. Herpes simplex otitis externa (disorder) disease_ontology DOID:8762 obsolete Herpes simplex virus otitis externa true DOID:8762 A Simplexvirus infectious disease that results_in inflammation located_in external ear, has_material_basis_in Human herpesvirus 1 or has-agent Human herpesvirus 2 and has_symptom vesicles in the ear canal. url:http://books.google.com/books?id=V5Snw0Q8LrEC&pg=PA53&lpg A Simplexvirus infectious disease that results in inflammatory response by the immune system of the body to Human herpesvirus 1 or Human herpesvirus 2 in the blood, urine, lungs, skin, or other tissues. The symptoms include fever, chills, rapid breathing, and rapid heart rate. DOID:8971 Herpes simplex septicemia (disorder) visceral herpes simplex disease_ontology DOID:8765 obsolete Herpes simplex virus septicemia true DOID:8765 A Simplexvirus infectious disease that results in inflammatory response by the immune system of the body to Human herpesvirus 1 or Human herpesvirus 2 in the blood, urine, lungs, skin, or other tissues. The symptoms include fever, chills, rapid breathing, and rapid heart rate. url:http://www.nlm.nih.gov/medlineplus/ency/article/001355.htm disease_ontology DOID:8766 obsolete lymphosarcoma involving intra-abdominal lymph nodes true DOID:8766 disease_ontology DOID:8767 obsolete malignant histiocytosis involving lymph nodes of axilla and upper limb true DOID:8767 disease_ontology DOID:8768 obsolete nodular lymphoma involving spleen true DOID:8768 malignant histiocytosis of lymph nodes of inguinal region and lower limb (disorder) malignant histiocytosis of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology DOID:8769 obsolete malignant histiocytosis involving lymph nodes of inguinal region and lower limb true DOID:8769 Reticulosarcoma of intra-abdominal lymph nodes Reticulosarcoma of intra-abdominal lymph nodes (disorder) disease_ontology DOID:8770 obsolete reticulosarcoma involving intra-abdominal lymph nodes true DOID:8770 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus (Parapoxvirus orf), which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis. ICD10CM:B08.02 ICD9CM:051.2 MESH:D004474 SNOMEDCT_US_2023_03_01:74050005 UMLS_CUI:C0013570 Ecthyma contagiosum Ecthyma, Contagious Orf scabby mouth sheep pox thistle disease disease_ontology DOID:8771 contagious pustular dermatitis DOID:8771 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus (Parapoxvirus orf), which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis. url:http://en.wikipedia.org/wiki/Orf_%28disease%29 url:http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5503a1.htm url:https://www.ncbi.nlm.nih.gov/books/NBK562191/ nodular lymphoma involving lymph nodes of head, face and neck nodular lymphoma of lymph nodes of head, face and neck (disorder) nodular lymphoma of lymph nodes of head, face, and neck (disorder) disease_ontology DOID:8773 obsolete nodular lymphoma involving lymph nodes of head, face, and neck true DOID:8773 DOID:3129 Proctosigmoiditis (disorder) chronic ulcerative rectosigmoiditis (disorder) proctosigmoiditis ulcerative (chronic) proctosigmoiditis ulcerative proctosigmoiditis disease_ontology DOID:8775 obsolete ulcerative proctosigmoiditis true DOID:8775 An intestinal disease that involves inflammation located_in intestine. DOID:8784 DOID:8855 DOID:8942 EFO:0000384 GARD:10232 ICD10CM:K50.1 ICD9CM:555.1 MESH:D003424 NCI:C37262 SNOMEDCT_US_2023_03_01:7620006 UMLS_CUI:C0156147 Crohn disease Crohn's disease of colon Crohn's disease of large bowel Granulomatous Colitis Pediatric Crohn's disease disease_ontology DOID:8778 MESH:C536215 added from NeuroDevNet [WAK]. Crohn's disease DOID:8778 An intestinal disease that involves inflammation located_in intestine. url:http://en.wikipedia.org/wiki/Chron%27s_disease url:https://www.genome.gov/Genetic-Disorders/Crohns-Disease A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus (Rubivirus rubellae), which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis. DOID:11765 DOID:1463 DOID:1464 DOID:8780 DOID:8816 DOID:8909 DOID:9106 DOID:9116 DOID:9162 DOID:9179 GARD:4742 ICD10CM:B06.9 ICD9CM:056 MESH:D012409 NCI:C85051 SNOMEDCT_US_2023_03_01:266192003 UMLS_CUI:C0035920 german measles disease_ontology DOID:8781 rubella DOID:8781 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus (Rubivirus rubellae), which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis. url:http://en.wikipedia.org/wiki/Rubella url:https://www.cdc.gov/rubella/about/ url:https://www.ncbi.nlm.nih.gov/books/NBK559040/ A Varicellovirus infectious disease that results_in pain located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection, has_symptom severe pain, has_symptom sensitivity to light touch, has_symptom muscle weakness, has_symptom paralysis, and has_symptom itching. disease_ontology DOID:8785 obsolete postherpetic polyneuropathy true DOID:8785 A Varicellovirus infectious disease that results_in pain located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection, has_symptom severe pain, has_symptom sensitivity to light touch, has_symptom muscle weakness, has_symptom paralysis, and has_symptom itching. url:http://www.mayoclinic.com/health/postherpetic-neuralgia/DS00277 ICD10CM:H30.1 ICD9CM:363.1 SNOMEDCT_US_2023_03_01:78769001 UMLS_CUI:C0154879 disease_ontology DOID:8787 disseminated chorioretinitis DOID:8787 An in situ carcinoma that is located_in the breast. ICD10CM:D05 ICD9CM:233.0 MESH:D000071960 SNOMEDCT_US_2023_03_01:154636004 UMLS_CUI:C0154084 Non-Infiltrating carcinoma of breast carcinoma in situ of breast disease_ontology DOID:8791 breast carcinoma in situ MESH:D000071960 DOID:8791 An in situ carcinoma that is located_in the breast. url:https://www.ncbi.nlm.nih.gov/pubmed/26431342 A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues. ICD10CM:D09.2 ICD9CM:234.0 SNOMEDCT_US_2023_03_01:92590009 UMLS_CUI:C0154094 carcinoma in situ of eye disease_ontology DOID:8792 eye carcinoma in situ DOID:8792 A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues. url:http://en.wikipedia.org/wiki/Carcinoma_in_situ Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes (disorder) Hodgkin's disease, lymphocytic-histiocytic predominance of intrathoracic lymph nodes [dup] (disorder) disease_ontology Hodgkin's disease, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes DOID:8794 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving intrathoracic lymph nodes true DOID:8794 Hodgkin's granuloma of spleen Hodgkin's granuloma of spleen (disorder) disease_ontology DOID:8795 obsolete Hodgkin's granuloma involving spleen true DOID:8795 Hodgkin's disease, mixed cellularity of spleen Hodgkin's disease, mixed cellularity of spleen (disorder) disease_ontology Hodgkin's disease, mixed cellularity, involving spleen DOID:8798 obsolete Hodgkin's lymphoma, mixed cellularity, involving spleen true DOID:8798 An in situ carcinoma that is located_in the lung. ICD10CM:D02.2 ICD9CM:231.2 SNOMEDCT_US_2023_03_01:189262006 UMLS_CUI:C0154071 disease_ontology DOID:8800 lung carcinoma in situ DOID:8800 An in situ carcinoma that is located_in the lung. url:https://www.cancer.org/treatment/understanding-your-diagnosis/tests/understanding-your-pathology-report/lung-pathology/lung-cancer-in-situ-pathology.html An in situ carcinoma that is located_in the trachea. ICD10CM:D02.1 ICD9CM:231.1 NCI:C3639 SNOMEDCT_US_2023_03_01:92772005 UMLS_CUI:C0154070 Tracheal carcinoma In situ carcinoma in situ of trachea disease_ontology DOID:8802 trachea carcinoma in situ DOID:8802 An in situ carcinoma that is located_in the trachea. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076722/ Repetitive intrusions of sleep (disorder) disease_ontology DOID:8803 obsolete repetitive intrusions of sleep true DOID:8803 ICD10CM:I20.0 ICD9CM:411.1 MESH:D000789 NCI:C66911 SNOMEDCT_US_2023_03_01:155308009 UMLS_CUI:C0002965 Angina at rest Anginal chest pain at rest Impending infarction Preinfarction angina Unstable angina Worsening angina disease_ontology DOID:8805 intermediate coronary syndrome DOID:8805 malignant histiocytosis of intrapelvic lymph nodes (disorder) disease_ontology DOID:8806 obsolete malignant histiocytosis involving intrapelvic lymph nodes true DOID:8806 disease_ontology DOID:8807 obsolete allergic gastroenteritis and colitis true DOID:8807 malignant histiocytosis of intrathoracic lymph nodes (disorder) disease_ontology DOID:8811 obsolete malignant histiocytosis involving intrathoracic lymph nodes true DOID:8811 A Measles virus infectious disease that results_in inflammation located_in middle ear, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom pain in the ear. postmeasles otitis media disease_ontology DOID:8812 obsolete Measles virus otitis media true DOID:8812 A Measles virus infectious disease that results_in inflammation located_in middle ear, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom pain in the ear. url:http://books.google.com/books?id=tvtJabldoKgC&pg=PA2296&lpg=PA2296&dq#v=onepage&q&f=false A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected. ICD10CM:B66.8 ICD9CM:121.6 NCI:C128389 SNOMEDCT_US_2023_03_01:22905009 UMLS_CUI:C0152071 heterophyes infectious disease disease_ontology DOID:882 heterophyiasis DOID:882 A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected. url:http://www.dpd.cdc.gov/dpdx/HTML/Heterophyiasis.htm chronic ulcerative ileocolitis chronic ulcerative ileocolitis (disorder) ulcerative (chronic) ileocolitis disease_ontology DOID:8820 obsolete ulcerative ileocolitis true DOID:8820 Hodgkin's Paragranuloma Involving Spleen Hodgkin's paragranuloma of spleen Hodgkin's paragranuloma of spleen (disorder) disease_ontology DOID:8825 obsolete Hodgkin's paragranuloma involving spleen true DOID:8825 An intestine carcinoma in situ that is located_in the colon. ICD10CM:D01.0 ICD9CM:230.3 SNOMEDCT_US_2023_03_01:92568009 UMLS_CUI:C0154061 carcinoma in situ of colon stage 0 Colonic carcinoma disease_ontology DOID:8826 colon carcinoma in situ DOID:8826 An intestine carcinoma in situ that is located_in the colon. url:https://www.ncbi.nlm.nih.gov/pubmed/622667 SIRS systemic inflammatory response syndrome (SIRS) NOS systemic inflammatory response syndrome, unspecified disease_ontology DOID:8828 obsolete systemic inflammatory response syndrome true DOID:8828 A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes. DOID:10693 DOID:3563 DOID:458 DOID:932 ICD10CM:B83.9 ICD9CM:120-129.99 MESH:D006373 NCI:C84751 SNOMEDCT_US_2023_03_01:187518006 UMLS_CUI:C0018889 helminth infection helminthiasis helminthosis worm infection disease_ontology DOID:883 parasitic helminthiasis infectious disease DOID:883 A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes. url:http://en.wikipedia.org/wiki/Helminth url:http://en.wikipedia.org/wiki/Helminthiasis Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites Hodgkin's disease, lymphocytic-histiocytic predominance of lymph nodes of multiple sites (disorder) disease_ontology Hodgkin's disease, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites DOID:8832 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving lymph nodes of multiple sites true DOID:8832 Burkitt's lymphoma of lymph nodes of head, face and neck (disorder) Burkitt's tumor or lymphoma involving lymph nodes of head, face and neck disease_ontology DOID:8836 obsolete Burkitt's tumor or lymphoma involving lymph nodes of head, face, and neck true DOID:8836 Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and neck (disorder) Hodgkin's disease, nodular sclerosis of lymph nodes of head, face and/or neck (disorder) Hodgkin's disease, nodular sclerosis, involving lymph nodes of head, face and neck disease_ontology DOID:8837 obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of head, face, and neck true DOID:8837 ICD10CM:C81.1 ICD9CM:201.5 NCI:C3518 SNOMEDCT_US_2023_03_01:52248008 UMLS_CUI:C0152268 Classical Hodgkin lymphoma, nodular sclerosis disease_ontology DOID:8838 Hodgkin's lymphoma, nodular sclerosis DOID:8838 An ophthalmic herpes zoster that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection and has_symptom red eye, has_symptom irritation, and has_symptom pain. Herpes zoster keratitis disease_ontology DOID:8839 obsolete herpes zoster keratoconjunctivitis true DOID:8839 An ophthalmic herpes zoster that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection and has_symptom red eye, has_symptom irritation, and has_symptom pain. url:http://books.google.com/books?id=fAlrbE9zBIwC&pg=PA240&lpg#v=onepage&q&f=false A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected. ICD10CM:B66.8 ICD9CM:121.5 MESH:D014201 NCI:C128390 SNOMEDCT_US_2023_03_01:37832003 UMLS_CUI:C0025530 Infection by Metagonimus yokogawai disease_ontology DOID:884 metagonimiasis DOID:884 A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected. url:http://www.dpd.cdc.gov/dpdx/HTML/Metagonimiasis.htm Erythema nodosum with hypersensitivity reaction in tuberculosis Erythema nodosum with tuberculosis NOS (disorder) Erythema nodosum, tuberculous Tuberculous erythema nodosum Tuberculous erythema nodosum (disorder) erythema nodosum with hypersensitivity reaction in tuberculosis disease_ontology DOID:8844 obsolete tuberculous erythema nodosum true DOID:8844 Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites Hodgkin's disease, nodular sclerosis of lymph nodes of multiple sites (disorder) nodular Sclerosis Hodgkin's Lymphoma stage III disease_ontology Hodgkin's disease, nodular sclerosis, involving lymph nodes of multiple sites DOID:8847 obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of multiple sites true DOID:8847 A salivary gland cancer that is located_in the sublingual gland. ICD10CM:C08.1 ICD9CM:142.2 NCI:C3527 SNOMEDCT_US_2023_03_01:94076001 UMLS_CUI:C0153361 malignant tumor of sublingual gland malignant tumor of the Sublingual gland disease_ontology DOID:8849 sublingual gland cancer DOID:8849 A salivary gland cancer that is located_in the sublingual gland. url:http://en.wikipedia.org/wiki/Sublingual_gland A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa. GARD:6428 ICD10CM:B66.3 ICD9CM:121.3 MESH:D005211 NCI:C128387 SNOMEDCT_US_2023_03_01:187125007 UMLS_CUI:C0015652 Fasciola hepatica infection Infection by Fasciola Liver flukes Sheep liver fluke infection disease_ontology DOID:885 fascioliasis DOID:885 A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa. url:http://www.dpd.cdc.gov/dpdx/HTML/Fascioliasis.htm An oral cavity cancer that is located_in the salivary gland. DOID:8873 DOID:9148 ICD10CM:C08 ICD9CM:142.8 SNOMEDCT_US_2023_03_01:187648003 UMLS_CUI:C0153362 malignant neoplasm of salivary gland disease_ontology DOID:8850 salivary gland cancer DOID:8850 An oral cavity cancer that is located_in the salivary gland. url:http://www.cancer.gov/dictionary?CdrID=446528 Hodgkin's granuloma of intra-abdominal lymph nodes (disorder) disease_ontology DOID:8852 obsolete Hodgkin's granuloma involving intra-abdominal lymph nodes true DOID:8852 disease_ontology DOID:8854 obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intrathoracic lymph nodes true DOID:8854 An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs. ICD10CM:L93 ICD9CM:695.4 NCI:C27153 SNOMEDCT_US_2023_03_01:200936003 UMLS_CUI:C0409974 lupus disease_ontology DOID:8857 lupus erythematosus DOID:8857 An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs. url:https://www.ncbi.nlm.nih.gov/pubmed/29366725 ICD10CM:C09 ICD9CM:146.0 MESH:D014067 NCI:C7404 SNOMEDCT_US_2023_03_01:93937006 UMLS_CUI:C0751560 malignant Tonsillar tumor malignant neoplasm of faucial tonsil malignant neoplasm of palatine tonsil malignant neoplasm of tonsil, faucial malignant tumor of tonsil disease_ontology DOID:8858 tonsil cancer DOID:8858 disease_ontology DOID:8860 obsolete lymphosarcoma involving spleen true DOID:8860 ICD10CM:Q24.3 ICD9CM:746.83 MESH:D011662 NCI:C34961 SNOMEDCT_US_2023_03_01:204370002 UMLS_CUI:C0034084 Congenital Infundibular Stenosis Infundibular pulmonic stenosis Infundibular pulmonic stenosis, congenital Subvalvular pulmonic stenosis pulmonary infundibular stenosis disease_ontology DOID:8861 pulmonary subvalvular stenosis DOID:8861 A monocytic leukemia where the majority of monocytic cells are promonocytes. DOID:9208 GARD:525 ICD9CM:206.0 ICDO:9891/3 MESH:D007948 MIM:151380 SNOMEDCT_US_2023_03_01:91859000 UMLS_CUI:C0023465 acute Monoblastic Leukemia and acute Monocytic Leukemia acute monocytic leukaemia acute monocytic leukaemia without mention of remission acute monocytic leukemia without mention of remission acute monocytic leukemia, FAB M5 acute monocytic leukemia, morphology disease_ontology DOID:8864 OMIM mapping confirmed by DO. [SN]. acute monocytic leukemia DOID:8864 A monocytic leukemia where the majority of monocytic cells are promonocytes. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=18.09d&ns=ncit&code=C4861 ICD10CM:L57.0 ICD9CM:702.0 ICDO:8070/0 MESH:D055623 NCI:C3148 SNOMEDCT_US_2023_03_01:267858008 UMLS_CUI:C0022602 SK - Solar keratosis Senile hyperkeratosis Solar keratosis actinic (Solar) Keratosis disease_ontology DOID:8866 actinic keratosis DOID:8866 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus (Molluscipoxvirus molluscum), which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center. ICD10CM:B08.1 ICD9CM:078.0 MESH:D008976 NCI:C155872 SNOMEDCT_US_2023_03_01:154360009 UMLS_CUI:C0026393 disease_ontology DOID:8867 molluscum contagiosum DOID:8867 A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus (Molluscipoxvirus molluscum), which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center. url:http://en.wikipedia.org/wiki/Molluscum_contagiosum url:http://www.cdc.gov/ncidod/dvrd/molluscum/overview.htm Mycosis fungoides of lymph nodes of multiple sites (disorder) disease_ontology DOID:8868 obsolete Mycosis fungoides involving lymph nodes of multiple sites true DOID:8868 A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). EFO:0004256 GARD:6267 ICD10CM:G36.0 ICD9CM:341.0 MESH:D009471 NCI:C84934 SNOMEDCT_US_2023_03_01:25044007 UMLS_CUI:C0027873 Devic's disease Devic's syndrome disease_ontology DOID:8869 neuromyelitis optica DOID:8869 A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). url:http://en.wikipedia.org/wiki/Neuromyelitis_optica url:http://rarediseases.org/rare-diseases/neuromyelitis-optica/ A parasitic helminthiasis infectious disease that involves infection by parasitic worms known as flukes, which are carried to various organs through blood stream. Fluke infection Trematode infestation disease_ontology DOID:887 obsolete Trematoda infectious disease true DOID:887 A parasitic helminthiasis infectious disease that involves infection by parasitic worms known as flukes, which are carried to various organs through blood stream. url:http://en.wikipedia.org/wiki/Trematoda nodular lymphoma of intrathoracic lymph nodes nodular lymphoma of intrathoracic lymph nodes (disorder) disease_ontology DOID:8870 obsolete nodular lymphoma involving intrathoracic lymph nodes true DOID:8870 disease_ontology Hodgkin's disease, nodular sclerosis, extranodal and solid organ sites DOID:8871 obsolete Hodgkin's lymphoma, nodular sclerosis, extranodal and solid organ sites true DOID:8871 An in situ carcinoma that is located_in the penis. ICD10CM:D07.4 ICD9CM:233.5 NCI:C27790 SNOMEDCT_US_2023_03_01:92679008 UMLS_CUI:C0154089 Bowen's disease of penis Penile intraepithelial neoplasia grade III Queyrat's erythroplasia carcinoma in situ of penis grade III squamous Intraepithelial Lesion of penis disease_ontology DOID:8872 penis carcinoma in situ DOID:8872 An in situ carcinoma that is located_in the penis. url:https://www.ncbi.nlm.nih.gov/pubmed/8126803 Hodgkin's sarcoma of lymph nodes of multiple sites (disorder) disease_ontology DOID:8875 obsolete Hodgkin's sarcoma involving lymph nodes of multiple sites true DOID:8875 A genital herpes that results_in infection located_in vulva and located_in vagina, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom fever, has_symptom lymphadenopathy, and has_symptom lesions. Herpetic Vulvovaginitis Herpetic vulvovaginitis (disorder) disease_ontology DOID:8876 obsolete herpetic vulvovaginitis true DOID:8876 A genital herpes that results_in infection located_in vulva and located_in vagina, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom fever, has_symptom lymphadenopathy, and has_symptom lesions. url:http://books.google.com/books?id=tvtJabldoKgC&pg=PA1889&lpg#v=onepage&q&f=false A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction. ICD10CM:B66.5 ICD9CM:121.4 MESH:D014201 NCI:C128388 SNOMEDCT_US_2023_03_01:54266002 UMLS_CUI:C0015656 Infection by Fasciolopsis buski Infectious Disease by Fasciolopsis disease_ontology DOID:888 fasciolopsiasis DOID:888 A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction. url:http://www.dpd.cdc.gov/dpdx/HTML/Fasciolopsiasis.htm ICD10CM:L71 ICD9CM:695.3 MESH:D012393 NCI:C97136 SNOMEDCT_US_2023_03_01:1612004 UMLS_CUI:C0035854 Acne roscea Acne, erythematosa disease_ontology DOID:8881 rosacea DOID:8881 ICD10CM:C00.1 ICD9CM:140.1 SNOMEDCT_US_2023_03_01:94136008 UMLS_CUI:C0432520 disease_ontology DOID:8883 lower lip cancer DOID:8883 GARD:6060 ICD10CM:H30.9 ICD9CM:363.20 MESH:D002825 NCI:C110923 SNOMEDCT_US_2023_03_01:270531006 UMLS_CUI:C0008513 retinochoroiditis disease_ontology DOID:8886 chorioretinitis DOID:8886 disease_ontology DOID:889 obsolete inborn metabolic brain disease true DOID:889 A dermatitis that is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. ICD10CM:L42 ICD9CM:696.3 MESH:D017515 NCI:C26855 SNOMEDCT_US_2023_03_01:156373006 UMLS_CUI:C0032026 Pityriasis circinata disease_ontology DOID:8892 pityriasis rosea DOID:8892 A dermatitis that is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. url:https://www.mayoclinic.org/diseases-conditions/pityriasis-rosea/symptoms-causes/syc-20376405 A skin disease that is characterized by patches of thick red skin and silvery scales. EFO:0000676 GARD:10262 ICD10CM:L40 MESH:D011565 MIM:PS177900 NCI:C3346 SNOMEDCT_US_2023_03_01:156369008 UMLS_CUI:C0033860 disease_ontology DOID:8893 Xref MGI. Update outdated UMLS CUI from C00295134 to C0033860. psoriasis DOID:8893 A skin disease that is characterized by patches of thick red skin and silvery scales. url:https://www.cdc.gov/psoriasis/index.htm MESH:D017237 SNOMEDCT_US_2023_03_01:447292006 UMLS_CUI:C0162666 disease_ontology DOID:890 mitochondrial encephalomyopathy DOID:890 Hodgkin's granuloma of lymph nodes of axilla and upper limb (disorder) Hodgkin's granuloma of lymph nodes of axilla and/or upper limb (disorder) disease_ontology DOID:8903 obsolete Hodgkin's granuloma involving lymph nodes of axilla and upper limb true DOID:8903 nodular lymphoma of lymph nodes of inguinal region and lower limb (disorder) disease_ontology DOID:8904 obsolete nodular lymphoma involving lymph nodes of inguinal region and lower limb true DOID:8904 A Varicellovirus infectious disease that results_in inflammation located_in external ear canal, has_material_basis_in Human herpesvirus 3, has_symptom pain in the outer ear, and has_symptom ear discharge. Herpes zoster otitis externa Otitis externa due to Herpes zoster (disorder) disease_ontology DOID:8906 obsolete herpes zoster otitis externa true DOID:8906 A Varicellovirus infectious disease that results_in inflammation located_in external ear canal, has_material_basis_in Human herpesvirus 3, has_symptom pain in the outer ear, and has_symptom ear discharge. url:http://books.google.com/books?id=52s8lgAlRZIC&pg=PA301&lpg#v=onepage&q&f=false Nonspecific ulcerative proctitis (disorder) chronic ulcerative proctitis chronic ulcerative proctitis (disorder) ulcerative (chronic) proctitis disease_ontology DOID:8907 obsolete ulcerative proctitis true DOID:8907 A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death. GARD:7140 MESH:D020191 MIM:310370 MIM:PS254800 NCI:C7636 SNOMEDCT_US_2023_03_01:192844008 UMLS_CUI:C0751778 PME progressive myoclonic epilepsy disease_ontology DOID:891 OMIM mapping confirmed by DO. [SN]. OMIM mapping submitted by NeuroDevNet. [LS]. progressive myoclonus epilepsy NCI:C7636 DOID:891 A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death. url:http://pn.bmj.com/content/15/3/164.long PME A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. ICD10CM:B36.1 ICD9CM:111.1 MESH:C000656904 SNOMEDCT_US_2023_03_01:1022006 UMLS_CUI:C0152067 Infection by Cladosporium werneckii Keratomycosis nigricans Tinea palmaris nigra disease_ontology microsporosis nigra DOID:8912 tinea nigra DOID:8912 A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. url:http://www.mycology.adelaide.edu.au/Mycoses/Superficial/Tinea_nigra/index.html A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. Subtypes are classified by the location on the body. ICD10CM:B35 ICD9CM:110 NCI:C26745 SNOMEDCT_US_2023_03_01:154394006 UMLS_CUI:C0011636 ringworm disease_ontology DOID:8913 dermatophytosis DOID:8913 A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. Subtypes are classified by the location on the body. url:http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/index.html url:https://en.wikipedia.org/wiki/Dermatophytosis url:https://www.cfsph.iastate.edu/Factsheets/pdfs/dermatophytosis.pdf Burkitt's lymphoma of intrapelvic lymph nodes (disorder) disease_ontology DOID:8914 obsolete Burkitt's tumor or lymphoma involving intrapelvic lymph nodes true DOID:8914 A Varicellovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection. The infection has_symptom fever, has_symptom headache, has_symptom cervical rigidity, has_symptom seizure, has_symptom ataxia, and has_symptom skin lesions. disease_ontology DOID:8915 obsolete herpes zoster meningitis true DOID:8915 A Varicellovirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 3, which reactivates after the primary infection. The infection has_symptom fever, has_symptom headache, has_symptom cervical rigidity, has_symptom seizure, has_symptom ataxia, and has_symptom skin lesions. url:http://synapse.koreamed.org/Synapse/Data/PDFData/0052KJP/kjp-52-705.pdf disease_ontology DOID:8916 obsolete mycosis fungoides involving lymph nodes of axilla and upper limb true DOID:8916 Hodgkin's sarcoma of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's sarcoma of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology DOID:8918 obsolete Hodgkin's sarcoma involving lymph nodes of inguinal region and lower limb true DOID:8918 Mycosis fungoides of lymph nodes of inguinal region and lower limb (disorder) Mycosis fungoides of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology DOID:8919 obsolete Mycosis fungoides involving lymph nodes of inguinal region and lower limb true DOID:8919 A vaginal disease that is a precancerous lesion that is characterized by the presence of white plaques which cannot be rubbed off. Histology shows increased keratin. ICD10CM:N89.4 ICD9CM:623.1 NCI:C3663 SNOMEDCT_US_2023_03_01:111420009 UMLS_CUI:C0156385 vaginal Leukoplakia disease_ontology DOID:8920 leukoplakia of vagina DOID:8920 A vaginal disease that is a precancerous lesion that is characterized by the presence of white plaques which cannot be rubbed off. Histology shows increased keratin. url:https://en.wikipedia.org/wiki/Leukoplakia disease_ontology DOID:8921 obsolete noninflammatory vaginal disorder true DOID:8921 A skin cancer that has_material_basis_in melanocytes. DOID:0050609 DOID:10043 DOID:10046 DOID:10051 DOID:10052 DOID:10055 DOID:8922 ICD10CM:C43.9 ICD9CM:172.9 MESH:D000096142 MIM:608035 MIM:612263 NCI:C3510 SNOMEDCT_US_2023_03_01:269577007 UMLS_CUI:C0151779 Cutaneous Malignant Melanoma cutaneous melanoma malignant ear melanoma malignant lip melanoma malignant lower limb melanoma malignant melanoma of ear and/or external auricular canal malignant melanoma of skin of lower limb malignant melanoma of skin of trunk except scrotum malignant melanoma of skin of upper limb malignant neck melanoma malignant scalp melanoma malignant trunk melanoma malignant upper limb melanoma disease_ontology DOID:8923 OMIM IDs, MIM:612263 and MIM:608035 represent susceptibility loci[LS]. skin melanoma DOID:8923 A skin cancer that has_material_basis_in melanocytes. url:http://cancergenome.nih.gov/cancersselected/melanoma url:http://en.wikipedia.org/wiki/Melanoma url:http://www.cancer.gov/dictionary?CdrID=45135 A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies. DOID:0050124 DOID:2220 ICD10CM:D69.3 ICD9CM:287.31 MESH:D016553 MIM:188030 NCI:C3446 SNOMEDCT_US_2023_03_01:234490009 UMLS_CUI:C0398650 Immune thrombocytopenic purpura idiopathic thrombocytopenic purpura primary thrombocytopenic purpura disease_ontology Ideopath thrombocytopenic pur Idiopathic purpura werlhof's disease DOID:8924 OMIM mapping confirmed by DO. [SN]. autoimmune thrombocytopenic purpura DOID:8924 A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies. url:https://rarediseases.org/rare-diseases/immune-thrombocytopenia/ sn:IEDB DOID:8945 ICD10CM:D69.4 ICD9CM:287.39 SNOMEDCT_US_2023_03_01:191435001 UMLS_CUI:C0477317 disease_ontology DOID:8925 primary thrombocytopenia DOID:8925 A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. DOID:2847 ICD10CM:F81.9 MESH:D007859 NCI:C89334 SNOMEDCT_US_2023_03_01:1855002 SNOMEDCT_US_2023_03_01:192531005 UMLS_CUI:C0023186 UMLS_CUI:C0751265 Academic skill disorder learning disorder disease_ontology DOID:8927 learning disability DOID:8927 A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. url:http://en.wikipedia.org/wiki/Learning_disability url:http://www.ldonline.org/ldbasics/whatisld disease_ontology DOID:8928 obsolete lymphosarcoma involving lymph nodes of head, face, and neck true DOID:8928 DOID:9048 DOID:9083 ICD10CM:K29.4 ICD9CM:535.1 MESH:D005757 NCI:C7405 SNOMEDCT_US_2023_03_01:155713006 UMLS_CUI:C0017154 gastric atrophy disease_ontology DOID:8929 atrophic gastritis DOID:8929 A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. GARD:7893 ICD10CM:E83.01 MESH:D006527 MIM:277900 NCI:C84756 SNOMEDCT_US_2023_03_01:88518009 UMLS_CUI:C0019202 Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration disease_ontology DOID:893 OMIM mapping confirmed by DO. [SN]. Wilson disease DOID:893 A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. url:https://pubmed.ncbi.nlm.nih.gov/32279718/ url:https://www.genome.gov/Genetic-Disorders/Wilson-Disease ICD10CM:C06.2 ICD9CM:145.6 SNOMEDCT_US_2023_03_01:363391009 UMLS_CUI:C0153379 malignant tumor of retromolar area disease_ontology DOID:8930 retromolar area cancer DOID:8930 GARD:6389 ICD10CM:D69.41 ICD9CM:287.32 MESH:C536380 NCI:C61284 SNOMEDCT_US_2023_03_01:75331009 UMLS_CUI:C0272126 disease_ontology DOID:8931 Evans' syndrome DOID:8931 An ophthalmic herpes zoster that results_in inflammation located_in iris and located_in ciliary body, has_material_basis_in Human herpesvirus 3,which reactivates from the trigeminal ganglion after the primary infection and has_symptom photophobia, has_symptom redness, has_symptom lacrimation, and blurres vision. Herpes zoster iridocyclitis (disorder) disease_ontology DOID:8932 obsolete herpes zoster iridocyclitis true DOID:8932 An ophthalmic herpes zoster that results_in inflammation located_in iris and located_in ciliary body, has_material_basis_in Human herpesvirus 3,which reactivates from the trigeminal ganglion after the primary infection and has_symptom photophobia, has_symptom redness, has_symptom lacrimation, and blurres vision. url:http://archopht.ama-assn.org/cgi/reprint/62/4/579.pdf url:http://books.google.com/books?id=G6k0tpPMRsIC&pg=PA799&lpg#v=onepage&q&f=false A connective tissue disease characterized by progressive fibrosis and thickening located_in the palmar fascia and has_symptom early painless nodules, has_symptom decreased range of motion, has_symptom weakened grip, and has_symptom eventual contracture. ICD10CM:M72.2 ICD9CM:728.71 MESH:D000071380 NCI:C4680 SNOMEDCT_US_2023_03_01:240032001 UMLS_CUI:C0158360 Dupuytren's contracture of foot Ledderhose's disease disease_ontology DOID:8936 plantar fascial fibromatosis DOID:8936 A connective tissue disease characterized by progressive fibrosis and thickening located_in the palmar fascia and has_symptom early painless nodules, has_symptom decreased range of motion, has_symptom weakened grip, and has_symptom eventual contracture. url:https://en.wikipedia.org/wiki/Plantar_fibromatosis ICD10CM:C14.2 ICD9CM:149.1 SNOMEDCT_US_2023_03_01:94144008 UMLS_CUI:C0153406 Waldeyer ring cancer malignant neoplasm of Waldeyer's ring malignant tumor of Waldeyer's ring disease_ontology DOID:8937 Waldeyer's ring cancer DOID:8937 Reticulosarcoma of intrathoracic lymph nodes Reticulosarcoma of intrathoracic lymph nodes (disorder) disease_ontology DOID:8938 obsolete reticulosarcoma involving intrathoracic lymph nodes true DOID:8938 Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and upper limb (disorder) Hodgkin's disease, nodular sclerosis of lymph nodes of axilla and/or upper limb (disorder) disease_ontology Hodgkin's disease, nodular sclerosis, involving lymph nodes of axilla and upper limb DOID:8939 obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of axilla and upper limb true DOID:8939 disease_ontology DOID:894 obsolete nervous system heredodegenerative disease true DOID:894 A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp. DOID:8823 ICD10CM:L21.0 ICD9CM:690.11 MESH:D063807 SNOMEDCT_US_2023_03_01:48596006 UMLS_CUI:C0221244 Complement 5 dysfunction Generalized seborrheic dermatitis of infants Infantile seborrheic dermatitis Infantile seborrhoeic dermatitis Pityriasis capitis Seborrhea sicca Seborrhoea capitis Seborrhoeic dermatitis of scalp Seborrhoeic eczema of scalp cradle cap seborrhea capitis disease_ontology DOID:8941 seborrheic infantile dermatitis DOID:8941 A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp. url:http://en.wikipedia.org/wiki/Cradle_cap url:http://www.nlm.nih.gov/medlineplus/ency/article/000963.htm An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface. MESH:C537935 MIM:122200 familial amyloid neuropathy, Finnish type disease_ontology DOID:8943 lattice corneal dystrophy DOID:8943 An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface. url:https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm url:https://www.omim.org/entry/122200 ICD9CM:362.06 SNOMEDCT_US_2023_03_01:312905005 UMLS_CUI:C0730278 High risk non proliferative diabetic retinopathy Severe NPDR disease_ontology DOID:8946 severe nonproliferative diabetic retinopathy DOID:8946 ICD9CM:362.0 MESH:D003930 NCI:C34538 SNOMEDCT_US_2023_03_01:154678005 UMLS_CUI:C0011884 Retinal abnormality - diabetes-related disease_ontology DOID:8947 diabetic retinopathy DOID:8947 Copper disorder disorder of copper metabolism disorder of copper metabolism (disorder) disorder of copper metabolism NOS (disorder) disease_ontology DOID:895 obsolete copper metabolism disease true DOID:895 A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). GARD:667 ICD10CM:D64.3 ICD9CM:285.0 MESH:D000756 MIM:PS300751 NCI:C36078 SNOMEDCT_US_2023_03_01:154810008 UMLS_CUI:C0002896 ANEMIA SIDEROBLASTIC Anemia, hypochromic with iron loading disease_ontology DOID:8955 sideroblastic anemia DOID:8955 A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). url:http://en.wikipedia.org/wiki/Sideroblastic_anemia A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus (Orthopoxvirus cowpox), which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face. ICD10CM:B08.010 ICD9CM:051.01 MESH:D015605 SNOMEDCT_US_2023_03_01:154344005 UMLS_CUI:C0010232 yaba disease_ontology DOID:8956 cowpox DOID:8956 A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus (Orthopoxvirus cowpox), which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face. url:https://en.wikipedia.org/wiki/Cowpox url:https://pmc.ncbi.nlm.nih.gov/articles/PMC3945082/ url:https://www.nejm.org/doi/10.1056/NEJMicm1702548?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub%3Dwww.ncbi.nlm.nih.gov disease_ontology DOID:8958 obsolete lymphosarcoma involving lymph nodes of axilla and upper limb true DOID:8958 disease_ontology DOID:8959 obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of inguinal region and lower limb true DOID:8959 An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. MESH:D008664 UMLS_CUI:C0025534 inborn metal metabolism disorder disease_ontology DOID:896 metal metabolism disorder DOID:896 An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. url:http://en.wikipedia.org/wiki/Inborn_errors_of_metal_metabolism A Measles virus infectious disease that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom mucopurulent discharge from the eye, has_symptom pain in the eye, and has_symptom redness. disease_ontology DOID:8962 obsolete Measles virus keratoconjunctivitis true DOID:8962 A Measles virus infectious disease that results_in inflammation located_in cornea and located_in conjunctiva, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom mucopurulent discharge from the eye, has_symptom pain in the eye, and has_symptom redness. url:http://books.google.com/books?id=0Qxnuj3MIUgC&pg=PA112&lpg=PA112&dq#v=onepage&q&f=false Hodgkin's sarcoma of spleen Hodgkin's sarcoma of spleen (disorder) disease_ontology DOID:8964 obsolete Hodgkin's sarcoma involving spleen true DOID:8964 ICD10CM:C09.0 ICD9CM:146.1 SNOMEDCT_US_2023_03_01:363394001 UMLS_CUI:C0153384 malignant neoplasm of tonsillar fossa malignant tumor of tonsillar fossa disease_ontology DOID:8969 tonsillar fossa cancer DOID:8969 A viral infectious disease that results_in persistent infection located_in brain and that has_material_basis_in Measles virus (Measles morbillivirus) which is immune resistant. GARD:7708 ICD10CM:A81.1 ICD9CM:046.2 MESH:D013344 MIM:260470 NCI:C85171 ORDO:2806 SNOMEDCT_US_2023_03_01:84196008 UMLS_CUI:C0038522 Dawson's encephalitis Dawson's inclusion body encephalitis SSPE Van Bogaert's sclerosing leukoencephalitis immunosuppressive measles encephalitis subacute sclerosing leukoencephalopathy disease_ontology DOID:8970 subacute sclerosing panencephalitis GARD:7708 ICD10CM:A81.1 ICD9CM:046.2 MESH:D013344 MIM:260470 NCI:C85171 ORDO:2806 UMLS_CUI:C0038522 DOID:8970 A viral infectious disease that results_in persistent infection located_in brain and that has_material_basis_in Measles virus (Measles morbillivirus) which is immune resistant. url:http://en.wikipedia.org/wiki/Subacute_sclerosing_panencephalitis url:https://medlineplus.gov/ency/article/001419.htm url:https://pubmed.ncbi.nlm.nih.gov/14872030/ url:https://www.ncbi.nlm.nih.gov/books/NBK560673/ SSPE mixed cellularity Hodgkin's disease stage III disease_ontology Hodgkin's disease, mixed cellularity, involving lymph nodes of multiple sites DOID:8973 obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of multiple sites true DOID:8973 Burkitt's lymphoma of lymph nodes of axilla and upper limb (disorder) disease_ontology DOID:8974 obsolete Burkitt's tumor or lymphoma involving lymph nodes of axilla and upper limb true DOID:8974 Tuberculosis of peripheral lymph nodes (disorder) Tuberculosis of peripheral lymph nodes NOS (disorder) Tuberculosis of peripheral lymph nodes, unspecified examination tuberculosis of peripheral lymph nodes disease_ontology DOID:8976 obsolete peripheral lymph node tuberculosis true DOID:8976 malignant histiocytosis involving lymph nodes of head, face and neck malignant histiocytosis of lymph nodes of head, face and neck (disorder) malignant histiocytosis of lymph nodes of head, face and/or neck (disorder) disease_ontology DOID:8977 obsolete malignant histiocytosis involving lymph nodes of head, face, and neck true DOID:8977 Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's disease, nodular sclerosis of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology Hodgkin's disease, nodular sclerosis, involving lymph nodes of inguinal region and lower limb DOID:8978 obsolete Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of inguinal region and lower limb true DOID:8978 Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes Hodgkin's disease, lymphocytic depletion of intrapelvic lymph nodes (disorder) disease_ontology Hodgkin's disease, lymphocytic depletion, involving intrapelvic lymph nodes DOID:8979 obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intrapelvic lymph nodes true DOID:8979 A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion. GARD:10413 ICD10CM:Q61.3 ICD9CM:753.12 MESH:D007690 NCI:C75464 ORDO:730 SNOMEDCT_US_2023_03_01:204955006 UMLS_CUI:C0022680 ADPKD Congenital biliary ectasias POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 disease_ontology DOID:898 Xref MGI. OMIM mapping confirmed by DO. [SN]. Updating outdated UMLS CUI. Removing Caroli disease as a synonym as this is a distinct disease. autosomal dominant polycystic kidney disease DOID:898 A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion. url:https://en.wikipedia.org/wiki/Ciliopathy#cite_note-davenport2008-4 url:https://rarediseases.info.nih.gov/diseases/10413/autosomal-dominant-polycystic-kidney-disease url:https://www.genome.gov/Genetic-Disorders/Autosomal-Polycystic-Kidney-Disease ADPKD Hodgkin's disease, lymphocytic-histiocytic predominance of spleen (disorder) Hodgkin's, lymphocytic-histiocytic predominance of spleen (disorder) disease_ontology Hodgkin's disease, lymphocytic-histiocytic predominance involving spleen DOID:8980 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving spleen true DOID:8980 A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. DOID:8985 GARD:7162 ICD10CM:G47.41 ICD9CM:347.0 MESH:D009290 MIM:161400 MIM:605841 MIM:609039 MIM:612417 MIM:612851 MIM:614223 MIM:614250 NCI:C84489 ORDO:2073 SNOMEDCT_US_2023_03_01:155059003 UMLS_CUI:C0027404 Narcolepsy, without cataplexy paroxysmal sleep disease_ontology DOID:8986 Xref MGI. narcolepsy DOID:8986 A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. url:http://en.wikipedia.org/wiki/Narcolepsy A bile duct disease characterized by cystic dilation of one or more extrahepatic or intrahepatic bile ducts. GARD:9229 ICD10CM:Q44.4 MESH:D015529 MIM:603003 NCI:C2943 ORDO:480501 SNOMEDCT_US_2023_03_01:30533003 UMLS_CUI:C0008340 Congenital choledochal cyst bile duct cyst biliary cyst disease_ontology DOID:899 choledochal cyst DOID:899 A bile duct disease characterized by cystic dilation of one or more extrahepatic or intrahepatic bile ducts. url:https://pubmed.ncbi.nlm.nih.gov/35212316/ url:https://www.ncbi.nlm.nih.gov/books/NBK557762/ Hodgkin's granuloma of lymph nodes of multiple sites (disorder) disease_ontology DOID:8990 obsolete Hodgkin's granuloma involving lymph nodes of multiple sites true DOID:8990 An uterus carcinoma in situ that is located_in the uterine cervix. ICD10CM:D06 ICD9CM:233.1 MESH:D002578 SNOMEDCT_US_2023_03_01:92564006 UMLS_CUI:C0851140 CIN III CIN III - carcinoma in situ of cervix CIN III - severe dyskaryosis Cervix Ca in situ Severe Dysplasia of the Cervix Uteri Severe dysplasia of cervix carcinoma in situ of cervix carcinoma in situ of uterine cervix carcinoma of cervix stage 0 cervical intraepithelial neoplasia grade III with severe dysplasia squamous intraepithelial neoplasia, grade III disease_ontology DOID:8991 cervix uteri carcinoma in situ DOID:8991 An uterus carcinoma in situ that is located_in the uterine cervix. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1503328/ CIN III Hodgkin's granuloma of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's granuloma of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology DOID:8992 obsolete Hodgkin's granuloma involving lymph nodes of inguinal region and lower limb true DOID:8992 Hodgkin's sarcoma involving lymph nodes of head, face and neck Hodgkin's sarcoma of lymph nodes of head, face and neck (disorder) Hodgkin's sarcoma of lymph nodes of head, face and/or neck (disorder) disease_ontology DOID:8994 obsolete Hodgkin's sarcoma involving lymph nodes of head, face, and neck true DOID:8994 disease_ontology DOID:8995 obsolete malignant histiocytosis involving intra-abdominal lymph nodes true DOID:8995 A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly. DOID:11868 GARD:7422 ICD10CM:D45 ICD9CM:207.1 ICD9CM:238.4 ICDO:9950/3 MESH:D011087 MIM:263300 NCI:C3336 SNOMEDCT_US_2023_03_01:154644004 SNOMEDCT_US_2023_03_01:188753004 UMLS_CUI:C0032463 UMLS_CUI:C0152272 Osler-Vaquez syndrome Polycythaemia rubra vera Proliferative polycythaemia chronic erythremia disease_ontology DOID:8997 OMIM mapping confirmed by DO. [SN]. polycythemia vera DOID:8997 A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly. url:https://en.wikipedia.org/wiki/Polycythemia_vera url:https://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera url:https://www.mayoclinic.org/diseases-conditions/polycythemia-vera/symptoms-causes/syc-20355850 A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. DOID:7943 EFO:0004994 NCI:C27156 SNOMEDCT_US_2023_03_01:156633005 UMLS_CUI:C0410606 cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease disease_ontology DOID:90 degenerative disc disease DOID:90 A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. url:http://en.wikipedia.org/wiki/Degenerative_disc_disease url:http://www.cedars-sinai.edu/Patients/Health-Conditions/Degenerative-Disc-Disease.aspx ICD10CM:K76.81 ICD9CM:573.5 MESH:D020065 SNOMEDCT_US_2023_03_01:371067004 UMLS_CUI:C0600452 disease_ontology DOID:900 hepatopulmonary syndrome DOID:900 Hodgkin's disease, nodular sclerosis of spleen Hodgkin's disease, nodular sclerosis of spleen (disorder) disease_ontology Hodgkin's disease, nodular sclerosis, involving spleen DOID:9001 obsolete Hodgkin's lymphoma, nodular sclerosis, involving spleen true DOID:9001 A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation. GARD:7711 ICD9CM:798.0 MESH:D013398 MIM:272120 NCI:C85173 SNOMEDCT_US_2023_03_01:51178009 UMLS_CUI:C0038644 Cot death Crib death SIDS Sudden death of nonspecific cause in infancy disease_ontology DOID:9007 sudden infant death syndrome DOID:9007 A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation. url:http://en.wikipedia.org/wiki/Sudden_infant_death_syndrome url:http://omim.org/entry/272120 url:http://www.nlm.nih.gov/medlineplus/suddeninfantdeathsyndrome.html SIDS An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis. EFO:0003778 ICD10CM:L40.5 ICD9CM:696.0 MESH:D015535 NCI:C61277 SNOMEDCT_US_2023_03_01:33339001 UMLS_CUI:C0003872 arthritis psoriatica arthropathic psoriasis disease_ontology psoriatic arthropathy DOID:9008 psoriatic arthritis DOID:9008 An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis. url:http://en.wikipedia.org/wiki/Psoriatic_arthropathy url:http://www.mayoclinic.com/health/psoriatic-arthritis/DS00476 url:http://www.nlm.nih.gov/medlineplus/ency/article/000413.htm url:https://ghr.nlm.nih.gov/condition/psoriatic-arthritis NCI:C4949 UMLS_CUI:C1112746 Lymphoma of Liver disease_ontology DOID:901 liver lymphoma DOID:901 Burkitt's lymphoma of lymph nodes of multiple sites (disorder) disease_ontology DOID:9010 obsolete Burkitt's tumor or lymphoma involving lymph nodes of multiple sites true DOID:9010 An in situ carcinoma that is located_in the larynx. ICD10CM:D02.0 ICD9CM:231.0 SNOMEDCT_US_2023_03_01:92634009 UMLS_CUI:C0154069 carcinoma in situ of larynx stage 0 carcinoma of the Larynx disease_ontology DOID:9011 larynx carcinoma in situ DOID:9011 An in situ carcinoma that is located_in the larynx. url:https://pubmed.ncbi.nlm.nih.gov/1934549/ Sezary's disease of lymph nodes of axilla and upper limb (disorder) Szary's disease of lymph nodes of axilla and/or upper limb (disorder) disease_ontology DOID:9017 obsolete Sezary's disease involving lymph nodes of axilla and upper limb true DOID:9017 Mycosis fungoides of spleen Mycosis fungoides of spleen (disorder) disease_ontology DOID:9019 obsolete Mycosis fungoides involving spleen true DOID:9019 disease_ontology DOID:902 obsolete malignant non-epithelial hepatic and intrahepatic bile duct neoplasm true DOID:902 Reticulosarcoma Involving Spleen Reticulosarcoma of spleen Reticulosarcoma of spleen (disorder) disease_ontology DOID:9020 obsolete reticulosarcoma involving spleen true DOID:9020 ICD9CM:530.83 NCI:C3953 SNOMEDCT_US_2023_03_01:89057003 UMLS_CUI:C0267095 Leukoplakia of esophagus disease_ontology DOID:9021 esophageal leukoplakia DOID:9021 An in situ carcinoma that is located_in the intestine. ICD10CM:D01.4 ICD9CM:230.7 SNOMEDCT_US_2023_03_01:190172008 UMLS_CUI:C0154065 disease_ontology DOID:9024 intestine carcinoma in situ DOID:9024 An in situ carcinoma that is located_in the intestine. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/carcinoma-in-situ Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes Hodgkin's disease, nodular sclerosis of intra-abdominal lymph nodes (disorder) disease_ontology Hodgkin's disease, nodular sclerosis, involving intra-abdominal lymph nodes DOID:9025 obsolete Hodgkin's lymphoma, nodular sclerosis, involving intra-abdominal lymph nodes true DOID:9025 NCI:C38162 SNOMEDCT_US_2023_03_01:449072004 UMLS_CUI:C0740372 disease_ontology DOID:903 gastrointestinal lymphoma DOID:903 Hodgkin's sarcoma of lymph nodes of axilla and upper limb (disorder) Hodgkin's sarcoma of lymph nodes of axilla and/or upper limb (disorder) disease_ontology DOID:9033 obsolete Hodgkin's sarcoma involving lymph nodes of axilla and upper limb true DOID:9033 A salivary gland cancer that is located_in the parotid gland. ICD10CM:C07 ICD9CM:142.0 MESH:D010307 NCI:C3525 SNOMEDCT_US_2023_03_01:93949007 UMLS_CUI:C0747273 cancer of parotid gland malignant neoplasm of the Parotid malignant tumor of parotid gland parotid cancer disease_ontology DOID:9036 parotid gland cancer DOID:9036 A salivary gland cancer that is located_in the parotid gland. url:http://en.wikipedia.org/wiki/Parotid_gland Burkitt's lymphoma of lymph nodes of inguinal region and lower limb (disorder) disease_ontology DOID:9037 obsolete Burkitt's tumor or lymphoma involving lymph nodes of inguinal region and lower limb true DOID:9037 Hodgkin's paragranuloma involving lymph nodes of head, face and neck Hodgkin's paragranuloma of lymph nodes of head, face and/or neck (disorder) Hodgkin's paragranuloma of lymph nodes of head, face, and neck (disorder) disease_ontology DOID:9039 obsolete Hodgkin's paragranuloma involving lymph nodes of head, face, and neck true DOID:9039 Reticulosarcoma involving lymph nodes of head, face and neck Reticulosarcoma of lymph nodes of head, face and neck (disorder) Reticulosarcoma of lymph nodes of head, face, and neck (disorder) disease_ontology DOID:9040 obsolete reticulosarcoma involving lymph nodes of head, face, and neck true DOID:9040 Hodgkin's disease, mixed cellularity of lymph nodes of axilla and upper limb (disorder) Hodgkin's disease, mixed cellularity of lymph nodes of axilla and/or upper limb (disorder) disease_ontology Hodgkin's disease, mixed cellularity, involving lymph nodes of axilla and upper limb DOID:9041 obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of axilla and upper limb true DOID:9041 ICD10CM:N84.0 ICD9CM:621.0 NCI:C3662 SNOMEDCT_US_2023_03_01:266659005 UMLS_CUI:C0156369 endometrial/uterine polyp polyp of Endometrium polyp of the Uterus polyp, uterus disease_ontology DOID:9042 polyp of corpus uteri DOID:9042 A cervix disease that is characterized by the presence of a hyperkeratotic lesion. ICD10CM:N88.0 ICD9CM:622.2 NCI:C3976 SNOMEDCT_US_2023_03_01:50923006 UMLS_CUI:C0269194 Leukoplakia of cervix Leukoplakia of cervix uteri Leukoplakia of the uterine Cervix disease_ontology DOID:9043 uterine cervix leukoplakia DOID:9043 A cervix disease that is characterized by the presence of a hyperkeratotic lesion. url:https://www.ajog.org/article/0002-9378(73)91053-3/abstract?code=ymob-site nodular lymphoma of lymph nodes of multiple sites nodular lymphoma of lymph nodes of multiple sites (disorder) disease_ontology DOID:9046 obsolete nodular lymphoma involving lymph nodes of multiple sites true DOID:9046 A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. GARD:7917 ICD10CM:E71.510 MESH:D015211 NCI:C85239 ORDO:912 SNOMEDCT_US_2023_03_01:88469006 UMLS_CUI:C0043459 cerebrohepatorenal syndrome congenital iron overload disease_ontology DOID:905 OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN]. Zellweger syndrome DOID:905 A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. url:http://en.wikipedia.org/wiki/Zellweger_Syndrome url:http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912 A Simplexvirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom fever, and has_symptom meningism. Herpes simplex meningitis (disorder) Mollaret's meningitis disease_ontology DOID:9051 obsolete Herpes simplex virus meningitis true DOID:9051 A Simplexvirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom fever, and has_symptom meningism. url:http://en.wikipedia.org/wiki/Herpes_simplex url:http://en.wikipedia.org/wiki/Mollaret%27s_meningitis url:http://www.springerlink.com/content/u62658410432568k/fulltext.pdf Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and upper limb (disorder) Hodgkin's disease, lymphocytic depletion of lymph nodes of axilla and/or upper limb (disorder) disease_ontology Hodgkin's disease, lymphocytic depletion, involving lymph nodes of axilla and upper limb DOID:9052 obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of axilla and upper limb true DOID:9052 An in situ carcinoma that is located_in the bladder. ICD10CM:D09.0 ICD9CM:233.7 SNOMEDCT_US_2023_03_01:92546004 UMLS_CUI:C0154091 Flat CIS of the urinary bladder bladder Ca in situ carcinoma in situ of bladder disease_ontology DOID:9053 bladder carcinoma in situ DOID:9053 An in situ carcinoma that is located_in the bladder. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4647140/ disease_ontology DOID:9054 obsolete lymphosarcoma involving intrathoracic lymph nodes true DOID:9054 A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever. herpetic gingivostomatitis primary herpetic gingivostomatitis disease_ontology DOID:9059 obsolete Herpes simplex virus gingivostomatitis true DOID:9059 A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever. url:http://www.nlm.nih.gov/medlineplus/ency/article/001052.htm An inherited metabolic disorder that involves peroxisome malfunction. ICD10CM:E71.5 ICD9CM:277.86 MESH:D018901 NCI:C85005 SNOMEDCT_US_2023_03_01:238059005 UMLS_CUI:C0282528 peroxisomal disorder disease_ontology DOID:906 peroxisomal disease DOID:906 An inherited metabolic disorder that involves peroxisome malfunction. url:http://en.wikipedia.org/wiki/Peroxisomal_disorder A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales. ICD10CM:B36.0 ICD9CM:111.0 MESH:D014010 NCI:C112833 SNOMEDCT_US_2023_03_01:56454009 UMLS_CUI:C0040262 Infection by Pityrosporum furfur disease_ontology DOID:9060 pityriasis versicolor DOID:9060 A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales. url:https://www.nhs.uk/conditions/pityriasis-versicolor/ disease_ontology DOID:9061 obsolete alcohol induced sleep disorder true DOID:9061 A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptom redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability. ICD10CM:L00 ICD9CM:695.81 MESH:D013206 NCI:C85077 SNOMEDCT_US_2023_03_01:87758007 UMLS_CUI:C0038165 Dermatitis exfoliativa neonatorum Pemphigus neonatorum Ritter disease Scalded skin syndrome Staphylococcal scalded skin syndrome Toxic epidermal necrolysis, subcorneal type disease_ontology DOID:9063 Ritter's disease DOID:9063 A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptom redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability. url:http://en.wikipedia.org/wiki/Ritter%27s_disease url:https://www.merriam-webster.com/medical/staphylococcal%20scalded%20skin disease_ontology Hodgkin's disease, lymphocytic-histiocytic predominance, extranodal and solid organ sites DOID:9064 obsolete Hodgkin's lymphoma, lymphocytic-histiocytic predominance, extranodal and solid organ sites true DOID:9064 A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae). DOID:9136 GARD:6881 ICD10CM:B55 ICD9CM:085 MESH:D007896 NCI:C34767 ORDO:507 SNOMEDCT_US_2023_03_01:266206004 UMLS_CUI:C0023281 disease_ontology Post Kala-Azar Dermal Leishmaniasis Post-kala-azar dermal leishmaniasis post-kala-azar dermal infectious disease by leishmaniasis DOID:9065 leishmaniasis DOID:9065 A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae). url:http://www.cdc.gov/ncidod/dpd/parasites/leishmania/factsht_leishmania.htm Hodgkin's paragranuloma of intrathoracic lymph nodes (disorder) disease_ontology DOID:9067 obsolete Hodgkin's paragranuloma involving intrathoracic lymph nodes true DOID:9067 NCI:C5752 UMLS_CUI:C1333965 Fibroma of the Liver disease_ontology DOID:907 liver fibroma DOID:907 Colonic Inflammatory polyp Pseudopolyposis of colon (disorder) disease_ontology DOID:9070 obsolete pseudopolyposis of colon true DOID:9070 malignant histiocytosis of spleen (disorder) disease_ontology DOID:9071 obsolete malignant histiocytosis involving spleen true DOID:9071 GARD:9622 ICD10CM:M31.2 ICD9CM:446.3 MESH:D006103 NCI:C8196 SNOMEDCT_US_2023_03_01:58961005 UMLS_CUI:C0018197 Midfacial Necrotising Lesion malignant granuloma of face disease_ontology DOID:9072 lethal midline granuloma DOID:9072 A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart. GARD:10253 ICD10CM:M32.9 ICD9CM:710.0 KEGG:05322 MESH:D008180 MIM:152700 MIM:300809 MIM:605480 MIM:608437 MIM:609903 MIM:609939 MIM:610065 MIM:610066 MIM:612254 MIM:612378 MIM:613145 MIM:614420 NCI:C3201 ORDO:536 SNOMEDCT_US_2023_03_01:156450004 UMLS_CUI:C0024141 Lupus Erythematosus, systemic SLE - Lupus Erythematosus, systemic disseminated lupus erythematosus disease_ontology DOID:9074 Xref MGI. systemic lupus erythematosus DOID:9074 A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart. url:http://en.wikipedia.org/wiki/Systemic_lupus_erythematosus ls:IEDB ICD10CM:H01.12 ICD9CM:373.34 SNOMEDCT_US_2023_03_01:79291003 UMLS_CUI:C0155180 disease_ontology DOID:9076 discoid lupus erythematosus of eyelid DOID:9076 Hodgkin's paragranuloma of intrapelvic lymph nodes (disorder) disease_ontology DOID:9078 obsolete Hodgkin's paragranuloma involving intrapelvic lymph nodes true DOID:9078 Hodgkin's paragranuloma of lymph nodes of multiple sites (disorder) disease_ontology DOID:9079 obsolete Hodgkin's paragranuloma involving lymph nodes of multiple sites true DOID:9079 primary macroglobulinemia disease_ontology DOID:9080 macroglobulinemia DOID:9080 Mycosis fungoides of intrathoracic lymph nodes Mycosis fungoides of intrathoracic lymph nodes (disorder) disease_ontology DOID:9082 obsolete mycosis fungoides involving intrathoracic lymph nodes true DOID:9082 Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes Hodgkin's disease, mixed cellularity of intra-abdominal lymph nodes (disorder) disease_ontology Hodgkin's disease, mixed cellularity, involving intra-abdominal lymph nodes DOID:9084 obsolete Hodgkin's lymphoma, mixed cellularity, involving intra-abdominal lymph nodes true DOID:9084 An in situ carcinoma that is located_in the anus. ICD9CM:230.6 NCI:C157575 SNOMEDCT_US_2023_03_01:92537005 UMLS_CUI:C0154064 anal carcinoma stage 0 anal intraepithelial neoplasia grade III carcinoma in situ of anal canal carcinoma in situ of anus disease_ontology DOID:9087 anal carcinoma in situ DOID:9087 An in situ carcinoma that is located_in the anus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2780101/ GARD:7328 ICD10CM:L41 ICD9CM:696.2 MESH:D010267 NCI:C3312 SNOMEDCT_US_2023_03_01:267851002 UMLS_CUI:C0030491 disease_ontology DOID:9088 parapsoriasis DOID:9088 A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement. ICD10CM:G47.52 ICD9CM:327.42 MESH:D020187 SNOMEDCT_US_2023_03_01:415238003 UMLS_CUI:C0751772 REM sleep behaviour disorder Rapid eye movement sleep behavior disorder Rapid eye movement sleep behaviour disorder disease_ontology DOID:9091 REM sleep behavior disorder DOID:9091 A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement. url:http://en.wikipedia.org/wiki/Rapid_eye_movement_behavior_disorder Hodgkin's sarcoma of intrathoracic lymph nodes Hodgkin's sarcoma of intrathoracic lymph nodes (disorder) disease_ontology DOID:9092 obsolete Hodgkin's sarcoma involving intrathoracic lymph nodes true DOID:9092 Hodgkin's paragranuloma of intra-abdominal lymph nodes (disorder) disease_ontology DOID:9093 obsolete Hodgkin's paragranuloma involving intra-abdominal lymph nodes true DOID:9093 An in situ carcinoma that is located_in the esophagus. ICD10CM:D00.1 ICD9CM:230.1 SNOMEDCT_US_2023_03_01:92585006 UMLS_CUI:C0154059 Severe esophageal dysplasia carcinoma in situ of esophagus carcinoma in situ of oesophagus oesophagus carcinoma in situ stage 0 carcinoma of the esophagus stage 0 carcinoma of the oesophagus disease_ontology DOID:9095 esophagus carcinoma in situ DOID:9095 An in situ carcinoma that is located_in the esophagus. url:https://www.ncbi.nlm.nih.gov/pubmed/6988210 DOID:9215 ICD9CM:690 NCI:C34591 SNOMEDCT_US_2023_03_01:200762004 UMLS_CUI:C0014747 Other erythematosquamous dermatosis disease_ontology DOID:9097 erythematosquamous dermatosis DOID:9097 A skin disease that is located_in the sebaceous gland. ICD10CM:L70.8 ICD9CM:706.1 SNOMEDCT_US_2023_03_01:201213005 UMLS_CUI:C0029485 disease_ontology DOID:9098 sebaceous gland disease DOID:9098 A skin disease that is located_in the sebaceous gland. url:http://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance url:https://www.ncbi.nlm.nih.gov/pubmed/18837699 DOID:909 ICD10CM:C71.4 ICD9CM:191.4 NCI:C5574 SNOMEDCT_US_2023_03_01:126957005 SNOMEDCT_US_2023_03_01:93928006 UMLS_CUI:C0153638 UMLS_CUI:C1263889 malignant neoplasm of occipital lobe neoplasm of occipital lobe tumor of Occipital Lobe disease_ontology DOID:910 occipital lobe neoplasm DOID:910 carcinoma in situ of other and unspecified male genital organs (disorder) disease_ontology DOID:9103 obsolete carcinoma in situ of male genital organs true DOID:9103 Mycosis fungoides of intrapelvic lymph nodes Mycosis fungoides of intrapelvic lymph nodes (disorder) disease_ontology DOID:9105 obsolete mycosis fungoides involving intrapelvic lymph nodes true DOID:9105 An in situ carcinoma that is located_in the uterus. ICD9CM:233.2 SNOMEDCT_US_2023_03_01:189342001 UMLS_CUI:C0154086 disease_ontology DOID:9108 uterus carcinoma in situ DOID:9108 An in situ carcinoma that is located_in the uterus. url:https://www.ncbi.nlm.nih.gov/pubmed/25423715 Mycosis fungoides of intra-abdominal lymph nodes Mycosis fungoides of intra-abdominal lymph nodes (disorder) disease_ontology DOID:9109 obsolete mycosis fungoides involving intra-abdominal lymph nodes true DOID:9109 A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions. DOID:13553 DOID:9110 DOID:9122 DOID:9167 ICD10CM:B55.1 MESH:D016773 NCI:C34768 SNOMEDCT_US_2023_03_01:240637006 UMLS_CUI:C0023283 Asian Desert Cutaneous Leishmaniasis Leproid leishmaniasis diffuse cutaneous leishmaniasis disease_ontology DOID:9111 cutaneous leishmaniasis DOID:9111 A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions. url:http://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers. GARD:9532 ICD10CM:A58 ICD9CM:099.2 MESH:D006100 NCI:C3065 SNOMEDCT_US_2023_03_01:186947000 UMLS_CUI:C0018190 donovanosis pudendal ulcer disease_ontology DOID:9113 granuloma inguinale DOID:9113 A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers. url:http://en.wikipedia.org/wiki/Granuloma_inguinale A Varicellovirus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human herpesvirus 3, has_symptom rash, has_symptom tachypnea, has_symptom chest tightness, has_symptom cough, has_symptom dyspnea, has_symptom fever, has_symptom pleuretic chest pain, and has_symptom hemoptysis. Hemorrhagic varicella pneumonitis Varicella pneumonitis disease_ontology DOID:9114 obsolete Varicella-zoster virus pneumonia true DOID:9114 A Varicellovirus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human herpesvirus 3, has_symptom rash, has_symptom tachypnea, has_symptom chest tightness, has_symptom cough, has_symptom dyspnea, has_symptom fever, has_symptom pleuretic chest pain, and has_symptom hemoptysis. url:http://erj.ersjournals.com/content/21/5/886.full A Rubella virus infectious disease that results_in infection located_in joint, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom joint pains. rubella arthritis disease_ontology DOID:9115 obsolete Rubella virus arthritis true DOID:9115 A Rubella virus infectious disease that results_in infection located_in joint, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom joint pains. url:http://books.google.com/books?id=e2eMlwknpAIC&pg=PA338&lpg#v=onepage&q&f=false Hodgkin's disease, lymphocytic depletion of spleen Hodgkin's disease, lymphocytic depletion of spleen (disorder) disease_ontology Hodgkin's disease, lymphocytic depletion, involving spleen DOID:9117 obsolete Hodgkin's lymphoma, lymphocytic depletion, involving spleen true DOID:9117 A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. DOID:9118 DOID:9171 GARD:12757 ICD10CM:C92.0 ICD9CM:205.0 ICDO:9861/3 KEGG:05221 MESH:D015470 MIM:601626 NCI:C3171 SNOMEDCT_US_2023_03_01:17788007 UMLS_CUI:C0023467 AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukaemia acute myeloblastic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia disease_ontology DOID:9119 OMIM mapping confirmed by DO. [SN]. acute myeloid leukemia DOID:9119 A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. url:http://cancergenome.nih.gov/cancersselected/acutemyeloidleukemia url:http://en.wikipedia.org/wiki/Acute_myeloid_leukemia url:http://www.cancer.gov/dictionary?cdrid=44363 url:https://www.cancer.org/cancer/acute-myeloid-leukemia/detection-diagnosis-staging/how-classified.html A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition. ICD10CM:E85 ICD9CM:277.3 MESH:D000686 NCI:C2868 SNOMEDCT_US_2023_03_01:154769007 UMLS_CUI:C0002726 amyloid disease disease_ontology DOID:9120 amyloidosis has both inherited and acquired subtypes [LS]. amyloidosis MESH:D000686 DOID:9120 A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition. url:https://en.wikipedia.org/wiki/Amyloidosis url:https://pubmed.ncbi.nlm.nih.gov/33100054/ url:https://pubmed.ncbi.nlm.nih.gov/33787033/ url:https://www.tandfonline.com/doi/pdf/10.1080/13506129.2020.1835263?needAccess=true Hodgkin's disease, mixed cellularity, extranodal and solid organ sites disease_ontology DOID:9121 obsolete Hodgkin's lymphoma, mixed cellularity, extranodal and solid organ sites true DOID:9121 A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2). The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes. DOID:4408 DOID:9081 ICD10CM:B00.0 ICD9CM:054.0 ICD9CM:054.41 MESH:D007617 NCI:C35620 SNOMEDCT_US_2023_03_01:186544000 SNOMEDCT_US_2023_03_01:52464003 UMLS_CUI:C0153037 UMLS_CUI:C0854331 UMLS_CUI:C0936250 Herpes simplex dermatitis of eyelid Herpes simplex eyelid dermatitis Herpes simplex virus dermatitis herpes simplex dermatitis herpes simplex virus eyelid dermatitis disease_ontology DOID:9123 eczema herpeticum DOID:9123 A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2). The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes. url:https://dermnetnz.org/topics/eczema-herpeticum url:https://www.ncbi.nlm.nih.gov/books/NBK560781/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520662/ Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes Hodgkin's disease, lymphocytic depletion of intra-abdominal lymph nodes (disorder) disease_ontology Hodgkin's disease, lymphocytic depletion, involving intra-abdominal lymph nodes DOID:9124 obsolete Hodgkin's lymphoma, lymphocytic depletion, involving intra-abdominal lymph nodes true DOID:9124 ICD10CM:C03.1 ICD9CM:143.1 SNOMEDCT_US_2023_03_01:93873003 UMLS_CUI:C0432581 malignant tumor of lower gingiva malignant tumour of lower gum disease_ontology DOID:9125 lower gum cancer DOID:9125 A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy. MESH:D020966 NCI:C84574 UMLS_CUI:C0752352 disease_ontology DOID:913 atrophic muscular disease DOID:913 A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C84574 Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes Hodgkin's disease, nodular sclerosis of intrapelvic lymph nodes (disorder) disease_ontology Hodgkin's disease, nodular sclerosis, involving intrapelvic lymph nodes DOID:9130 obsolete Hodgkin's lymphoma, nodular sclerosis, involving intrapelvic lymph nodes true DOID:9130 An in situ carcinoma that is located_in the liver. ICD10CM:D01.5 ICD9CM:230.8 SNOMEDCT_US_2023_03_01:271525004 UMLS_CUI:C0496854 carcinoma in situ of liver and biliary system carcinoma in situ of liver, gallbladder and bile ducts disease_ontology DOID:9132 liver carcinoma in situ DOID:9132 An in situ carcinoma that is located_in the liver. url:https://www.ncbi.nlm.nih.gov/pubmed/1657755 An in situ carcinoma that is located_in the stomach. ICD10CM:D00.2 ICD9CM:230.2 SNOMEDCT_US_2023_03_01:92756002 UMLS_CUI:C0154060 carcinoma in situ of stomach gastric carcinoma in situ disease_ontology DOID:9138 stomach carcinoma in situ DOID:9138 An in situ carcinoma that is located_in the stomach. url:https://www.cancer.gov/types/stomach/patient/stomach-treatment-pdq ICD10CM:K76.4 MESH:D010382 SNOMEDCT_US_2023_03_01:197366003 UMLS_CUI:C0030781 hepatic peliosis disease_ontology DOID:914 peliosis hepatis DOID:914 ICD10CM:H01.14 ICD9CM:373.33 SNOMEDCT_US_2023_03_01:55846006 UMLS_CUI:C0155179 disease_ontology DOID:9140 xeroderma of eyelid DOID:9140 A Simplexvirus infectious disease that results_in inflammation located_in brain and located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom lesions in the brain, and has_symptom cerebral hemorrhage. Herpetic meningoencephalitis (disorder) disease_ontology DOID:9141 obsolete Herpes simplex virus meningoencephalitis true DOID:9141 A Simplexvirus infectious disease that results_in inflammation located_in brain and located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom lesions in the brain, and has_symptom cerebral hemorrhage. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1502977/pdf/califmed00041-0064.pdf Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites Hodgkin's disease, lymphocytic depletion of lymph nodes of multiple sites (disorder) stage III Hodgkin's Lymphoma Lymphocyte Depletion type disease_ontology Hodgkin's disease, lymphocytic depletion, involving lymph nodes of multiple sites DOID:9142 obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of multiple sites true DOID:9142 Burkitt's lymphoma of spleen (disorder) Burkitt's tumor of spleen (disorder) Splenic Burkitt's Lymphoma disease_ontology DOID:9143 obsolete Burkitt's tumor or lymphoma involving spleen true DOID:9143 A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver. ICD10CM:B55.0 ICD9CM:085.0 MESH:D007898 MIM:608207 MIM:611381 MIM:611382 NCI:C34771 SNOMEDCT_US_2023_03_01:48115004 UMLS_CUI:C0023290 Infection by visceral leishmaniasis Kala-Azar disease_ontology DOID:9146 Xref MGI. visceral leishmaniasis DOID:9146 A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver. url:http://en.wikipedia.org/wiki/Visceral_leishmaniasis url:http://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm ICD10CM:C05.0 ICD9CM:145.2 NCI:C3528 SNOMEDCT_US_2023_03_01:93822006 UMLS_CUI:C0153375 malignant neoplasm of hard palate malignant tumor of hard palate malignant tumour of hard palate disease_ontology DOID:9149 hard palate cancer DOID:9149 Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes Hodgkin's disease, mixed cellularity of intrapelvic lymph nodes (disorder) disease_ontology Hodgkin's disease, mixed cellularity, involving intrapelvic lymph nodes DOID:9150 obsolete Hodgkin's lymphoma, mixed cellularity, involving intrapelvic lymph nodes true DOID:9150 A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. ICD9CM:050.1 MESH:D012899 NCI:C34365 SNOMEDCT_US_2023_03_01:72294005 UMLS_CUI:C0001906 Alastrim cottonpox milkpox whitepox disease_ontology DOID:9153 variola minor DOID:9153 A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. url:https://www.fda.gov/vaccines-blood-biologics/vaccines/smallpox A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa. ICD10CM:B55.2 ICD9CM:085.5 MESH:D007897 SNOMEDCT_US_2023_03_01:721813000 UMLS_CUI:C1328252 American cutaneous leishmaniasis American mucocutaneous leishmaniasis Cutaneous leishmaniasis, American Mucocutaneous leishmaniasis, American New World cutaneous leishmaniasis disease_ontology DOID:9155 mucocutaneous leishmaniasis DOID:9155 A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa. url:http://www.bmj.com/cgi/content/full/329/7470/842 Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes Hodgkin's disease, nodular sclerosis of intrathoracic lymph nodes (disorder) disease_ontology Hodgkin's disease, nodular sclerosis, involving intrathoracic lymph nodes DOID:9157 obsolete Hodgkin's lymphoma, nodular sclerosis, involving intrathoracic lymph nodes true DOID:9157 Sezary's disease of intra-abdominal lymph nodes (disorder) Szary's disease of intra-abdominal lymph nodes (disorder) disease_ontology DOID:9158 obsolete Sezary's disease involving intra-abdominal lymph nodes true DOID:9158 A commensal bacterial infectious disease that results in infection, located in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has symptom large blisters, has symptom pain in the infected area, has symptom myonecrosis, has symptom gas production, and has symptom sepsis. ICD10CM:A48.0 ICD9CM:040.0 MESH:D005738 SNOMEDCT_US_2023_03_01:186413007 UMLS_CUI:C0017105 Gas bacillus infection disease_ontology DOID:9159 gas gangrene DOID:9159 A commensal bacterial infectious disease that results in infection, located in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has symptom large blisters, has symptom pain in the infected area, has symptom myonecrosis, has symptom gas production, and has symptom sepsis. url:http://en.wikipedia.org/wiki/Gas_gangrene url:http://www.merckmanuals.com/home/sec17/ch190/ch190g.html#sec17-ch190-ch190g-157 DOID:692 NCI:C7103 NCI:C7106 UMLS_CUI:C1333419 UMLS_CUI:C1333976 epithelial hepatic and intrahepatic bile duct neoplasm disease_ontology DOID:916 liver benign neoplasm DOID:916 Sezary's disease of intrapelvic lymph nodes (disorder) Szary's disease of intrapelvic lymph nodes (disorder) disease_ontology DOID:9161 obsolete Sezary's disease involving intrapelvic lymph nodes true DOID:9161 An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. ICD10CM:K22.0 ICD9CM:530.0 MESH:D004931 MIM:200400 NCI:C84699 SNOMEDCT_US_2023_03_01:17460002 UMLS_CUI:C0014848 Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter disease_ontology DOID:9164 achalasia DOID:9164 An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. url:http://www.nlm.nih.gov/medlineplus/ency/article/000267.htm ICD10CM:L98.1 ICD9CM:698.4 SNOMEDCT_US_2023_03_01:402736003 UMLS_CUI:C1274184 Dermatitis artefacta Dermatitis factitia Dermatitis ficta Factitious skin disease disease_ontology DOID:9165 neurotic excoriation DOID:9165 A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia). ICD10CM:D82.0 ICD9CM:279.12 MESH:D014923 MIM:301000 NCI:C3448 SNOMEDCT_US_2023_03_01:36070007 UMLS_CUI:C0043194 Wiskott syndrome disease_ontology DOID:9169 OMIM mapping confirmed by DO. [SN]. Wiskott-Aldrich syndrome DOID:9169 A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia). url:https://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome NCI:C5753 UMLS_CUI:C1333968 leiomyoma of the Liver disease_ontology DOID:917 liver leiomyoma DOID:917 ICD10CM:C08.0 ICD9CM:142.1 NCI:C3526 SNOMEDCT_US_2023_03_01:363380002 UMLS_CUI:C0153360 malignant neoplasm of submaxillary gland malignant tumor of submandibular gland malignant tumor of the Submandibular gland disease_ontology DOID:9173 submandibular gland cancer DOID:9173 An in situ carcinoma that is located_in the rectum. ICD10CM:D01.2 ICD9CM:230.4 SNOMEDCT_US_2023_03_01:92696009 UMLS_CUI:C0154062 Severe Rectal Dysplasia Severe dysplasia of rectum carcinoma in situ of rectum disease_ontology DOID:9174 rectum carcinoma in situ DOID:9174 An in situ carcinoma that is located_in the rectum. url:https://www.ncbi.nlm.nih.gov/pubmed/622667 NCI:C5858 SNOMEDCT_US_2023_03_01:717329009 UMLS_CUI:C1333967 Inflammatory Pseudotumor of the Liver disease_ontology DOID:918 liver inflammatory pseudotumor DOID:918 An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon. Amebic nondysenteric colitis (disorder) amoebic colitis disease_ontology DOID:9180 obsolete amebic colitis true DOID:9180 An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon. url:http://www.dpd.cdc.gov/DPDx/HTML/Amebiasis.htm url:http://www.merck.com/mmpe/sec14/ch185/ch185b.html?qt=amebic%20colitis&alt=sh A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. DOID:11901 DOID:11904 GARD:652 ICD10CM:A06 ICD9CM:006 MESH:D000562 NCI:C84551 SNOMEDCT_US_2023_03_01:387754006 UMLS_CUI:C0002438 amoebiasis entamoebiasis disease_ontology chronic intestinal amebiasis DOID:9181 amebiasis MESH:D000562 DOID:9181 A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. url:http://en.wikipedia.org/wiki/Amoebiasis url:http://www.nlm.nih.gov/medlineplus/ency/article/000298.htm An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured. GARD:7352 ICD10CM:L10 ICD9CM:694.4 MESH:D010392 NCI:C34909 SNOMEDCT_US_2023_03_01:156355008 UMLS_CUI:C0030807 disease_ontology DOID:9182 pemphigus DOID:9182 An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured. url:https://en.wikipedia.org/wiki/Pemphigus url:https://medlineplus.gov/pemphigus.html url:https://rarediseases.org/rare-diseases/pemphigus/ disease_ontology DOID:9184 obsolete sleep arousal disorder true DOID:9184 Hodgkin's paragranuloma of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's paragranuloma of lymph nodes of inguinal region and/or lower limb (disorder) disease_ontology DOID:9186 obsolete Hodgkin's paragranuloma involving lymph nodes of inguinal region and lower limb true DOID:9186 ICD10CM:C06.1 ICD9CM:145.1 SNOMEDCT_US_2023_03_01:187658004 UMLS_CUI:C0153374 malignant neoplasm of vestibule of mouth malignant tumor of vestibule of mouth disease_ontology DOID:9188 vestibule of mouth cancer DOID:9188 Generalized hyperhidrosis (context-dependent category) Generalized hyperhidrosis (disorder) disease_ontology DOID:9189 obsolete generalized hyperhidrosis true DOID:9189 ICD9CM:362.07 SNOMEDCT_US_2023_03_01:312912001 UMLS_CUI:C0730285 disease_ontology DOID:9191 diabetic macular edema DOID:9191 ICD10CM:K22.4 ICD9CM:530.5 MESH:D015154 SNOMEDCT_US_2023_03_01:40846004 UMLS_CUI:C0014858 Dyskinesia of oesophagus Oesophageal dysmotility Oesophageal motor disorder esophageal dysmotility esophageal motility disorder disease_ontology DOID:9192 dyskinesia of esophagus DOID:9192 A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness. DOID:8565 DOID:8624 DOID:9023 Dendritic Keratitis herpes simplex disciform keratitis ocular herpes simplex disease_ontology DOID:9195 obsolete Herpes simplex virus keratitis true DOID:9195 A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness. url:http://emedicine.medscape.com/article/1194268-overview Sezary's disease of intrathoracic lymph nodes (disorder) Szary's disease of intrathoracic lymph nodes (disorder) disease_ontology DOID:9198 obsolete Sezary's disease involving intrathoracic lymph nodes true DOID:9198 disease_ontology DOID:9199 obsolete cataplexy and narcolepsy true DOID:9199 A communication disorder that involves difficulty with the act of speech production. MESH:D013064 NCI:C5041 UMLS_CUI:C0037822 disease_ontology DOID:92 speech disorder DOID:92 A communication disorder that involves difficulty with the act of speech production. url:http://en.wikipedia.org/wiki/Speech_disorders disease_ontology DOID:920 obsolete childhood liver neoplasm true DOID:920 A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. GARD:12344 ICD10CM:L43 ICD9CM:697.0 MESH:D008010 NCI:C3189 SNOMEDCT_US_2023_03_01:156377007 UMLS_CUI:C0023646 Lichen, ruber planus lichen ruber planus disease_ontology DOID:9201 lichen planus MESH:D008010 DOID:9201 A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. url:http://en.wikipedia.org/wiki/Lichen_planus disease_ontology DOID:9202 obsolete disorder of optic chiasm associated with pituitary neoplasm and disorder true DOID:9202 Burkitt's lymphoma of intra-abdominal lymph nodes (disorder) disease_ontology DOID:9203 obsolete Burkitt's tumor or lymphoma involving intra-abdominal lymph nodes true DOID:9203 An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. EFO:0000280 GARD:20 ICD10CM:K22.7 ICD9CM:530.85 MESH:D001471 MIM:614266 NCI:C2891 SNOMEDCT_US_2023_03_01:302914006 UMLS_CUI:C0004763 Barrett esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome ulcerative esophagitis disease_ontology DOID:9206 Barrett's esophagus DOID:9206 An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. url:https://pubmed.ncbi.nlm.nih.gov/21461873/ A sleep disorder that involves involuntary limb movement during sleep. ICD10CM:G47.61 ICD9CM:327.51 MESH:D020189 SNOMEDCT_US_2023_03_01:418763003 UMLS_CUI:C0751774 nocturnal myoclonus disease_ontology DOID:9207 periodic limb movement disorder DOID:9207 A sleep disorder that involves involuntary limb movement during sleep. url:http://en.wikipedia.org/wiki/Periodic_limb_movement_disorder A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache. GARD:7525 ICD10CM:B02.21 ICD9CM:053.11 MESH:D016697 NCI:C84763 ORDO:3020 SNOMEDCT_US_2023_03_01:21954000 UMLS_CUI:C0017409 Geniculate herpes zoster Herpes zoster auricularis Herpetic geniculate ganglionitis Ramsay Hunt syndrome type 2 Ramsay Hunt syndrome type II Ramsey Hunt syndrome geniculate neuralgia nervus intermedius neuralgia disease_ontology DOID:9210 herpes zoster oticus GARD:7525 ICD10CM:B02.21 ICD9CM:053.11 MESH:D016697 NCI:C84763 ORDO:3020 UMLS_CUI:C0017409 DOID:9210 A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache. url:https://rarediseases.info.nih.gov/diseases/7525/index A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma. GARD:7401 ICD10CM:L44.0 ICD9CM:696.4 MESH:D010916 MIM:173200 NCI:C85014 SNOMEDCT_US_2023_03_01:3755001 UMLS_CUI:C0032027 Devergie's disease disease_ontology DOID:9212 OMIM mapping confirmed by DO. [SN]. pityriasis rubra pilaris DOID:9212 A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma. url:https://pubmed.ncbi.nlm.nih.gov/29302927/ A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision. Herpes simplex iridocyclitis (disorder) disease_ontology DOID:9214 obsolete Herpes simplex virus iridocyclitis true DOID:9214 A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision. url:http://books.google.com/books?id=ydim6J7sFS4C&pg=PA504&lpg url:http://en.wikipedia.org/wiki/Iridocyclitis Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and neck (disorder) Hodgkin's disease, lymphocytic depletion of lymph nodes of head, face and/or neck (disorder) Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face and neck disease_ontology Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face, and neck DOID:9216 obsolete Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of head, face, and neck true DOID:9216 A Varicellovirus infectious disease that results_in infection located_in skin of eyelid, has_material_basis_in Human herpesvirus 3 and has_symptom rash after the reactivation of latent virus years after the primary infection. Herpes Zoster Dermatitis of eyelid Herpes zoster dermatitis of eyelids (disorder) Herpes zoster with dermatitis of eyelid (disorder) disease_ontology DOID:9217 obsolete herpes zoster eyelid dermatitis true DOID:9217 A Varicellovirus infectious disease that results_in infection located_in skin of eyelid, has_material_basis_in Human herpesvirus 3 and has_symptom rash after the reactivation of latent virus years after the primary infection. url:http://www.ophthalmic.hyperguides.com/tutorials/oculoplastics/eyelid_infections/tutorial.asp?module=pain A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing. MESH:D020182 MIM:107640 MIM:207720 NCI:C116046 UMLS_CUI:C0520680 primary central sleep apnea disease_ontology central sleep apnea syndrome DOID:9220 Xref MGI. central sleep apnea DOID:9220 A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing. url:http://en.wikipedia.org/wiki/Central_sleep_apnea url:http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 url:http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/ disease_ontology DOID:9222 obsolete lymphosarcoma involving lymph nodes of inguinal region and lower limb true DOID:9222 disease_ontology DOID:9224 obsolete vulva herpetic infectious disease true DOID:9224 disease_ontology DOID:9225 obsolete Hodgkin's sarcoma involving intrapelvic lymph nodes true DOID:9225 Hodgkin's disease, mixed cellularity of lymph nodes of head, face and neck (disorder) Hodgkin's disease, mixed cellularity of lymph nodes of head, face and/or neck (disorder) Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face and neck disease_ontology Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face, and neck DOID:9227 obsolete Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of head, face, and neck true DOID:9227 A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester. Congenital Rubella Congenital Rubella syndrome Congenital rubella syndrome Gestational rubella syndrome (disorder) disease_ontology DOID:9228 obsolete congenital rubella true DOID:9228 A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester. url:http://en.wikipedia.org/wiki/Congenital_rubella A sweat gland disease that is characterized by recurrent vesicles and bullae that develop particularly upon the lateral palms, soles, and fingers and has_symptom pruritis and cracked skin. ICD9CM:705.81 MESH:D011146 SNOMEDCT_US_2023_03_01:402567004 UMLS_CUI:C0032633 Cheiropompholyx DYSHYDROTIC ECZEMA Vesicular eczema of hands and/or feet dyshidrosis disease_ontology DOID:9230 pompholyx DOID:9230 A sweat gland disease that is characterized by recurrent vesicles and bullae that develop particularly upon the lateral palms, soles, and fingers and has_symptom pruritis and cracked skin. url:https://jamanetwork.com/journals/jamadermatology/fullarticle/654498 An in situ carcinoma that is located_in the kidney. ICD10CM:D09.1 ICD9CM:233.9 SNOMEDCT_US_2023_03_01:190185006 UMLS_CUI:C0154092 disease_ontology DOID:9234 kidney carcinoma in situ DOID:9234 An in situ carcinoma that is located_in the kidney. url:https://www.ncbi.nlm.nih.gov/pubmed/4417875 ICD10CM:C12 ICD9CM:148.1 NCI:C3531 SNOMEDCT_US_2023_03_01:363401000 UMLS_CUI:C0153400 malignant neoplasm of pyriform fossa malignant neoplasm of the Pyriform Fossa malignant tumor of pyriform fossa disease_ontology DOID:9235 pyriform sinus cancer DOID:9235 A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature. GARD:6377 ICD10CM:I73.81 ICD9CM:443.82 MESH:D004916 MIM:133020 NCI:C34593 SNOMEDCT_US_2023_03_01:238777005 UMLS_CUI:C0014804 erythermalgia disease_ontology DOID:9240 erythromelalgia DOID:9240 A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature. url:https://en.wikipedia.org/wiki/Erythromelalgia url:https://ghr.nlm.nih.gov/condition/erythromelalgia url:https://rarediseases.org/rare-diseases/erythromelalgia/ Reticulosarcoma of lymph nodes of axilla and upper limb (disorder) disease_ontology DOID:9241 obsolete reticulosarcoma involving lymph nodes of axilla and upper limb true DOID:9241 A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. GARD:804 ICD10CM:Q44.7 MESH:D016738 MIM:118450 MIM:610205 NCI:C35139 ORDO:52 SNOMEDCT_US_2023_03_01:31742004 UMLS_CUI:C0085280 Alagille-Watson syndrome Arteriohepatic dysplasia disease_ontology DOID:9245 OMIM mapping confirmed by DO. [SN]. Alagille syndrome MESH:D016738 DOID:9245 A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. url:https://research.nhgri.nih.gov/atlas/condition/alagille-syndrome url:https://www.niddk.nih.gov/health-information/liver-disease/alagille-syndrome/definition-facts An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. MESH:D028243 ORDO:85458 SNOMEDCT_US_2023_03_01:45639009 UMLS_CUI:C0268393 UMLS_CUI:C1510489 UMLS_CUI:C1527338 UMLS_CUI:C1956349 Cerebral Hemorrhage, Hereditary, with Amyloidosis Hereditary Cerebral Hemorrhage with Amyloidosis disease_ontology DOID:9246 Xref MGI. OMIM mapping confirmed by DO. [SN]. cerebral amyloid angiopathy DOID:9246 An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. url:http://en.wikipedia.org/wiki/Cerebral_amyloid_angiopathy A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14. GARD:7305 MESH:D054975 MIM:146510 NCI:C84987 SNOMEDCT_US_2023_03_01:56677004 UMLS_CUI:C0265220 disease_ontology DOID:9248 OMIM mapping confirmed by DO. [SN]. Pallister-Hall syndrome DOID:9248 A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14. url:https://pubmed.ncbi.nlm.nih.gov/31011455/ url:https://pubmed.ncbi.nlm.nih.gov/8914745/ url:https://research.nhgri.nih.gov/atlas/condition/pallister-hall-syndrome A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. MESH:C537599 MIM:269860 SNOMEDCT_US_2023_03_01:254052001 UMLS_CUI:C0432198 type IV short rib polydactyly syndrome disease_ontology DOID:9249 OMIM mapping confirmed by DO. [LS]. Beemer-Langer syndrome DOID:9249 A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. url:http://en.wikipedia.org/wiki/Short_rib_%E2%80%93_polydactyly_syndrome url:http://www.springerlink.com/content/e0hmfh4fcl7m4kjw/ A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. GARD:5721 MESH:D055673 MIM:200990 NCI:C84531 SNOMEDCT_US_2023_03_01:715951007 UMLS_CUI:C0796147 ACLS SCHINZEL ACROCALLOSAL SYNDROME Schinzel syndrome 1 disease_ontology DOID:9250 OMIM mapping confirmed by DO. [SN]. acrocallosal syndrome MESH:D055673 DOID:9250 A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. url:http://en.wikipedia.org/wiki/Acrocallosal_syndrome ACLS An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. GARD:5793 ICD10CM:E72.9 ICD9CM:270 MESH:D000592 NCI:C97090 SNOMEDCT_US_2023_03_01:42930003 UMLS_CUI:C0002514 inborn errors of amino acid metabolism disease_ontology DOID:9252 amino acid metabolic disorder DOID:9252 An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. url:http://en.wikipedia.org/wiki/Inborn_errors_of_amino_acid_metabolism GARD:8598 ICD10CM:C49.A ICDO:8936/3 MESH:D046152 MIM:606764 NCI:C3868 SNOMEDCT_US_2023_03_01:1187383001 UMLS_CUI:C0238198 GANT GIST Stromal tumor of gastrointestinal tract Stromal tumour of gastrointestinal tract gastrointestinal stromal tumour disease_ontology DOID:9253 OMIM mapping confirmed by DO. [SN]. gastrointestinal stromal tumor DOID:9253 GANT GIST A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood. ICD10CM:C94.3 ICDO:9742/3 MESH:D007946 NCI:C3169 SNOMEDCT_US_2023_03_01:110002002 UMLS_CUI:C0023461 disease_ontology DOID:9254 mast-cell leukemia DOID:9254 A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood. url:http://medical-dictionary.thefreedictionary.com/mast+cell+leukemia A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. GARD:8436 MESH:C563003 MIM:600274 ORDO:282 SNOMEDCT_US_2023_03_01:42369001 UMLS_CUI:C0520716 Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration disease_ontology DOID:9255 Xref MGI. OMIM mapping confirmed by DO. [SN]. frontotemporal dementia MESH:D057180 DOID:9255 A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. url:http://en.wikipedia.org/wiki/Frontotemporal_dementia url:http://www.mayoclinic.org/diseases-conditions/frontotemporal-dementia/basics/definition/con-20023876 url:https://www.ncbi.nlm.nih.gov/pubmed/21121521 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/673/viewAbstract A large intestine cancer that is located_in the colon and/or located_in the rectum. ICD10CM:C18.9 KEGG:05210 MESH:D015179 MIM:114500 NCI:C2956 NCI:C4978 SNOMEDCT_US_2023_03_01:126837005 SNOMEDCT_US_2023_03_01:93854002 UMLS_CUI:C0009404 UMLS_CUI:C0346629 disease_ontology DOID:9256 Xref MGI. OMIM mapping confirmed by DO. [SN]. colorectal cancer DOID:9256 A large intestine cancer that is located_in the colon and/or located_in the rectum. url:http://www.cancer.gov/dictionary?CdrID=444983 A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. GARD:5525 MESH:D014849 MIM:PS193500 NCI:C75008 NCI:C85222 ORDO:3440 ORDO:895 SNOMEDCT_US_2023_03_01:1010606009 SNOMEDCT_US_2023_03_01:190695000 SNOMEDCT_US_2023_03_01:47434006 UMLS_CUI:C0079661 UMLS_CUI:C1847800 UMLS_CUI:C3266898 Waardenburg Shah syndrome Waardenburg's syndrome van der Hoeve Halbertsona Waardenburg syndrome Waardenburg, types I and/or II disease_ontology DOID:9258 Xref MGI. OMIM mapping confirmed by DO. [SN]. Waardenburg syndrome DOID:9258 A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. url:http://en.wikipedia.org/wiki/Waardenburg_syndrome A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract. DOID:8813 DOID:8814 DOID:9057 DOID:9144 DOID:9197 DOID:9229 GARD:7163 ICD10CM:C11 ICD10CM:C11.0 ICD10CM:C11.1 ICD10CM:C11.2 ICD10CM:C11.3 ICD9CM:147 ICD9CM:147.0 ICD9CM:147.1 ICD9CM:147.2 ICD9CM:147.3 MESH:D009303 MIM:161550 MIM:607107 NCI:C9321 ORDO:150 SNOMEDCT_US_2023_03_01:187692001 SNOMEDCT_US_2023_03_01:187693006 SNOMEDCT_US_2023_03_01:187700006 SNOMEDCT_US_2023_03_01:363398003 SNOMEDCT_US_2023_03_01:93919005 SNOMEDCT_US_2023_03_01:94078000 UMLS_CUI:C0153392 UMLS_CUI:C0153393 UMLS_CUI:C0153394 UMLS_CUI:C0153395 UMLS_CUI:C0153396 UMLS_CUI:C0238301 Nasopharyngeal carcinoma malignant Nasopharyngeal tumor malignant neoplasm of nasopharynx nasopharynx cancer disease_ontology carcinoma of nasopharynx DOID:9261 Xref MGI. OMIM mapping confirmed by DO. [SN]. nasopharynx carcinoma DOID:9261 A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract. url:http://en.wikipedia.org/wiki/Nasopharyngeal_carcinoma An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. GARD:10770 ICD10CM:E72.11 MESH:D006712 MIM:236200 MIM:236250 NCI:C84765 ORDO:394 SNOMEDCT_US_2023_03_01:190709008 UMLS_CUI:C0019880 CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency disease_ontology DOID:9263 Xref MGI. homocystinuria DOID:9263 An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. url:http://en.wikipedia.org/wiki/Homocystinuria Disturbance of sulfur-bearing amino acid metabolism NOS (disorder) Disturbance of sulphur-bearing amino-acid metabolism NOS Disturbances of sulphur-bearing amino-acid metabolism Sulphuraminoacidaemia disease_ontology DOID:9264 obsolete sulfuraminoacidemia true DOID:9264 An amino acid metabolic disorder that involves deficiency in histidine. ICD10CM:E70.4 ICD9CM:270.5 SNOMEDCT_US_2023_03_01:44176004 UMLS_CUI:C0268512 Disturbances of histidine metabolism disease_ontology DOID:9265 histidine metabolism disease DOID:9265 An amino acid metabolic disorder that involves deficiency in histidine. url:http://en.wikipedia.org/wiki/Histidine#Metabolism An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. GARD:6237 ICD10CM:E72.01 MESH:D003555 MIM:220100 NCI:C84664 ORDO:214 SNOMEDCT_US_2023_03_01:154738008 UMLS_CUI:C0010691 disease_ontology DOID:9266 OMIM mapping confirmed by DO. [SN]. cystinuria DOID:9266 An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. url:http://en.wikipedia.org/wiki/Cystinuria An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. GARD:7837 ICD10CM:E72.2 ICD9CM:270.6 MESH:D056806 NCI:C84785 SNOMEDCT_US_2023_03_01:36444000 UMLS_CUI:C0154246 disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia disorder of urea cycle metabolism urea cycle defect disease_ontology DOID:9267 urea cycle disorder DOID:9267 An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. url:http://en.wikipedia.org/wiki/Urea_cycle_disorder An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. GARD:7219 ICD10CM:E72.51 MESH:D020158 MIM:PS605899 NCI:C84937 ORDO:407 SNOMEDCT_US_2023_03_01:237939006 UMLS_CUI:C0751748 GCE NKH Non-ketotic hyperglycinemia nonketotic hyperglycinemia disease_ontology DOID:9268 glycine encephalopathy DOID:9268 An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. url:http://en.wikipedia.org/wiki/Nonketotic_hyperglycinemia GCE NKH An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. GARD:3228 ICD10CM:E71.0 MESH:D008375 MIM:246900 MIM:248600 MIM:615135 NCI:C34806 ORDO:511 SNOMEDCT_US_2023_03_01:27718001 UMLS_CUI:C0024776 Ketoacidaemia branched chain ketoaciduria disease_ontology dihydrolipoamide dehydrogenase deficiency DOID:9269 Xref MGI. OMIM mapping confirmed by DO. [SN]. maple syrup urine disease DOID:9269 An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. url:https://www.merriam-webster.com/medical/maple%20syrup%20urine%20disease dihydrolipoamide dehydrogenase deficiency MIM:246900 metastatic neoplasm to the Brain secondary malignant neoplasm of brain (disorder) disease_ontology DOID:927 obsolete metastatic malignant neoplasm to brain true DOID:927 An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. DOID:0050714 GARD:5775 ICD10CM:E70.29 MESH:D000474 MIM:203500 NCI:C84546 ORDO:56 SNOMEDCT_US_2023_03_01:24250001 UMLS_CUI:C0002066 Homogentisate 1,2-dioxygenase deficiency alcaptonuria disease_ontology deficiency of homogentisicase DOID:9270 OMIM mapping confirmed by DO. [SN]. alkaptonuria MESH:D000474 DOID:9270 An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. url:http://en.wikipedia.org/wiki/Alkaptonuria An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. GARD:8391 ICD10CM:E72.4 MESH:D020163 MIM:311250 NCI:C84957 SNOMEDCT_US_2023_03_01:80908008 UMLS_CUI:C0268542 deficiency of citrulline phosphorylase ornithine transcarbamylase deficiency disease_ontology DOID:9271 OMIM mapping confirmed by DO. [SN]. ornithine carbamoyltransferase deficiency DOID:9271 An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. url:http://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood. ICD10CM:E72.23 MESH:D020159 NCI:C84639 ORDO:187 SNOMEDCT_US_2023_03_01:15489004 UMLS_CUI:C0175683 ASS deficiency deficiency of citrulline-aspartate ligase disease_ontology DOID:9273 Xref MGI. OMIM mapping confirmed by DO. [SN]. citrullinemia DOID:9273 An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood. url:http://en.wikipedia.org/wiki/Citrullinemia An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. GARD:2828 ICD10CM:E72.3 MESH:D020167 MIM:238700 MIM:238710 NCI:C123433 ORDO:2203 SNOMEDCT_US_2023_03_01:58558003 UMLS_CUI:C0268553 disease_ontology DOID:9274 OMIM mapping confirmed by DO. [SN]. hyperlysinemia DOID:9274 An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. url:http://en.wikipedia.org/wiki/Hyperlysinemia An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. ICD10CM:E70.21 SNOMEDCT_US_2023_03_01:190694001 UMLS_CUI:C0268483 disease_ontology DOID:9275 OMIM mapping submitted by NeuroDevNet. [LS]. tyrosinemia DOID:9275 An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. url:http://en.wikipedia.org/wiki/Tyrosinemia ICD9CM:334.2 MESH:D013132 SNOMEDCT_US_2023_03_01:192868000 UMLS_CUI:C0033132 disease_ontology DOID:9277 primary cerebellar degeneration DOID:9277 An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. ICD10CM:E72.21 MESH:D020162 MIM:207800 NCI:C84568 SNOMEDCT_US_2023_03_01:23501004 UMLS_CUI:C0268548 Arginase deficiency argininemia deficiency of canavanase disease_ontology DOID:9278 OMIM mapping confirmed by DO. [SN]. hyperargininemia DOID:9278 An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. url:https://www.medlink.com/articles/hyperargininemia An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. MESH:D020138 MIM:603174 NCI:C84770 SNOMEDCT_US_2023_03_01:419503008 UMLS_CUI:C0598608 disease_ontology DOID:9279 hyperhomocysteinemia DOID:9279 An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. url:http://en.wikipedia.org/wiki/Hyperhomocysteinemia CNS metastases (tumor staging) metastatic tumor to the CNS disease_ontology DOID:928 obsolete CNS metastases true DOID:928 A urea cycle disorder that involves accumulation of ammonia in the blood. GARD:7269 MESH:D020165 MIM:237300 NCI:C84612 SNOMEDCT_US_2023_03_01:765329008 UMLS_CUI:C0751753 CPS I deficiency disease_ontology DOID:9280 OMIM mapping confirmed by DO. [SN]. carbamoyl phosphate synthetase I deficiency disease DOID:9280 A urea cycle disorder that involves accumulation of ammonia in the blood. url:http://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. DOID:14455 GARD:7383 ICD9CM:270.1 MESH:D010661 MESH:D017042 MIM:261600 NCI:C81315 ORDO:716 SNOMEDCT_US_2023_03_01:154735006 SNOMEDCT_US_2023_03_01:297225000 UMLS_CUI:C0031485 UMLS_CUI:C0085547 Folling's disease PKU maternal phenylketonuria phenylalaninemia disease_ontology DOID:9281 OMIM mapping confirmed by DO. [SN]. phenylketonuria DOID:9281 An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. url:http://en.wikipedia.org/wiki/Phenylketonuria url:https://www.genome.gov/Genetic-Disorders/Phenylketonuria PKU An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss. ICD10CM:H40.05 ICD9CM:365.04 MESH:D009798 NCI:C3285 SNOMEDCT_US_2023_03_01:267721003 UMLS_CUI:C0028840 disease_ontology DOID:9282 ocular hypertension DOID:9282 An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss. url:https://en.wikipedia.org/wiki/Ocular_hypertension A glaucoma characterized by clinical features and risk factors that are associated with high likelihood to developing optic atrophy secondary to glaucoma in the future. These features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy. ICD10CM:H40.00 ICD9CM:365.00 SNOMEDCT_US_2023_03_01:359633007 UMLS_CUI:C0549470 Preglaucoma disease_ontology DOID:9283 borderline glaucoma DOID:9283 A glaucoma characterized by clinical features and risk factors that are associated with high likelihood to developing optic atrophy secondary to glaucoma in the future. These features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055310/ A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain. GARD:10016 ICD10CM:N48.3 ICD9CM:607.3 MESH:D011317 NCI:C85022 SNOMEDCT_US_2023_03_01:155930001 UMLS_CUI:C0033117 Mentulagra disease_ontology DOID:9286 priapism DOID:9286 A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain. url:http://en.wikipedia.org/wiki/Priapism url:http://my.clevelandclinic.org/disorders/priapism/hic_priapism.aspx vascular disorder of penis disease_ontology DOID:9287 obsolete penile vascular disorder true DOID:9287 ICD10CM:H05.82 ICD9CM:376.82 SNOMEDCT_US_2023_03_01:57130002 UMLS_CUI:C0155286 Myopathy of extraocular muscles disease_ontology DOID:929 myopathy of extraocular muscle DOID:929 An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. DOID:9333 EFO:0003959 ICD10CM:Q36 ICD9CM:749.1 ICD9CM:749.11 MESH:D002971 NCI:C87175 SNOMEDCT_US_2023_03_01:156941008 SNOMEDCT_US_2023_03_01:62696001 UMLS_CUI:C0008924 UMLS_CUI:C0158651 Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip disease_ontology DOID:9296 cleft lip DOID:9296 An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. url:https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate url:https://www.cdc.gov/ncbddd/birthdefects/cleftlip.html A mouth disease located_in the lip. ICD10CM:K13.0 ICD9CM:528.5 MESH:D008047 NCI:C26818 SNOMEDCT_US_2023_03_01:90678009 UMLS_CUI:C0023760 disease of lips disease_ontology DOID:9297 lip disease DOID:9297 A mouth disease located_in the lip. url:https://www.merckmanuals.com/home/mouth-and-dental-disorders/lip-and-tongue-disorders/lip-sores-lip-inflammation-and-other-changes DOID:14536 NCI:C4569 NCI:C5349 SNOMEDCT_US_2023_03_01:126732009 SNOMEDCT_US_2023_03_01:363437005 UMLS_CUI:C0346611 UMLS_CUI:C1290402 malignant Myocardial tumor malignant neoplasm of myocardium tumor of Myocardium disease_ontology DOID:9299 myocardium cancer DOID:9299 A communication disorder that involves the processing of linguistic information. ICD10CM:F80.9 MESH:D007806 NCI:C97155 SNOMEDCT_US_2023_03_01:62305002 UMLS_CUI:C0023015 disease_ontology DOID:93 language disorder DOID:93 A communication disorder that involves the processing of linguistic information. url:http://en.wikipedia.org/wiki/Language_disorder An adnexa disease that is located_in the eye socket. ICD10CM:H05.9 ICD9CM:376.9 MESH:D009916 SNOMEDCT_US_2023_03_01:267746003 UMLS_CUI:C0029182 disease_ontology DOID:930 orbital disease DOID:930 An adnexa disease that is located_in the eye socket. url:http://www.hopkinsmedicine.org/wilmer/services/oculofacial_plastic_surgery/reconstructive/orbital_disease.html NCI:C5359 UMLS_CUI:C1096349 Neurofibroma of Heart disease_ontology DOID:9300 neurofibroma of the heart DOID:9300 An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen. ICD10CM:A18.85 ICD9CM:017.7 MESH:D014400 SNOMEDCT_US_2023_03_01:28399005 UMLS_CUI:C0041331 disease_ontology DOID:9305 splenic tuberculosis DOID:9305 An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen. url:https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf ICD10CM:H50.6 ICD9CM:378.6 MESH:D013285 SNOMEDCT_US_2023_03_01:5371001 UMLS_CUI:C0152223 disease_ontology DOID:9306 mechanical strabismus DOID:9306 ICD10CM:K62.3 ICD9CM:569.1 MESH:D012005 NCI:C34973 SNOMEDCT_US_2023_03_01:197214005 UMLS_CUI:C0034888 Procidentia, rectum disease_ontology DOID:9307 rectal prolapse DOID:9307 A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep. MESH:D008989 UMLS_CUI:C0026414 disease_ontology DOID:931 monieziasis DOID:931 A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep. url:https://www.ncbi.nlm.nih.gov/pubmed/15287174 A respiratory system benign neoplasm that arises from the nasal cavity. NCI:C4603 SNOMEDCT_US_2023_03_01:188874008 UMLS_CUI:C0347215 Benign Nasal Cavity Neoplasm neoplasm of nasal cavity tumor of the nasal cavity disease_ontology DOID:9310 nasal cavity benign neoplasm DOID:9310 A respiratory system benign neoplasm that arises from the nasal cavity. url:https://www.mayoclinic.org/diseases-conditions/nasal-paranasal-tumors/symptoms-causes/syc-20354136 A ethmoid sinusitis which lasts for 12 weeks or more. ICD10CM:J32.2 ICD9CM:473.2 NCI:C34472 SNOMEDCT_US_2023_03_01:155528009 UMLS_CUI:C0008681 chronic ethmoid sinusitis chronic ethmoidal sinusitis ethmoidal sinusitis - chronic disease_ontology DOID:9312 chronic ethmoiditis DOID:9312 A ethmoid sinusitis which lasts for 12 weeks or more. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html Glaucoma associated with anomalies of iris (disorder) disease_ontology DOID:9314 obsolete glaucoma associated with anomalies of iris true DOID:9314 A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning. ICD10CM:I89.1 ICD9CM:457.2 MESH:D008205 NCI:C34790 SNOMEDCT_US_2023_03_01:1415005 UMLS_CUI:C0024225 disease_ontology DOID:9317 lymphangitis DOID:9317 A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning. url:http://en.wikipedia.org/wiki/Lymphangitis url:https://www.merriam-webster.com/dictionary/Lymphangitis#medicalDictionary DOID:10984 DOID:10985 DOID:12831 Displacement of lumbar intervertebral disc without myelopathy Displacement of lumbar intervertebral disc without myelopathy (disorder) Displacement of thoracic intervertebral disc without myelopathy (disorder) displacement of the lumbar or lumbosacral intervertebral disc without myelopathy displacement of thoracic intervertebral disc without myelopathy displacement of thoracic or lumbar intervertebral disc without myelopathy disease_ontology DOID:9321 obsolete intervertebral disc disorder true DOID:9321 A parasitic helminthiasis infectious disease that involves infection by parasitic flatworms known as tapeworms living in the vertebrate digestive tract. DOID:10077 Cestode infection (disorder) Cestode infection NOS (disorder) Cestode infection, unspecified (disorder) Cestode infestation Infection by Taenia (disorder) Taenia infestation Taeniasis, unspecified Taeniasis, unspecified (disorder) Tapeworm infection NOS Unspecified teniasis (disorder) disease due to Cestoda teniasis disease_ontology DOID:933 obsolete Cestoda infectious disease true DOID:933 A parasitic helminthiasis infectious disease that involves infection by parasitic flatworms known as tapeworms living in the vertebrate digestive tract. url:http://en.wikipedia.org/wiki/Cestodes DOID:10750 DOID:10751 DOID:9482 ICD10CM:H53.42 ICD10CM:H53.45 ICD9CM:368.42 ICD9CM:368.44 SNOMEDCT_US_2023_03_01:33970004 UMLS_CUI:C0029657 UMLS_CUI:C0152192 Blind spot area scotoma Enlarged angioscotoma Enlarged blind spot Enlarged paracaecal scotoma Generalized visual field contraction or constriction Scotoma of blind spot area Sector or arcuate visual field defects disease_ontology DOID:9335 scotoma DOID:9335 ICD9CM:302.1 SNOMEDCT_US_2023_03_01:154907002 UMLS_CUI:C0152186 Zoophilia disease_ontology DOID:9336 bestiality DOID:9336 ICD10CM:N36.5 ICD9CM:599.4 SNOMEDCT_US_2023_03_01:74944002 UMLS_CUI:C0156286 disease_ontology DOID:9339 urethral false passage DOID:9339 A disease by infectious agent that results in infection, has_material_basis_in Viruses. DOID:1329 ICD10CM:A94 ICD10CM:B34.9 ICD9CM:060-066.99 MESH:D001102 MESH:D014777 NCI:C3439 NCI:C34396 SNOMEDCT_US_2023_03_01:34014006 SNOMEDCT_US_2023_03_01:40610006 UMLS_CUI:C0003723 UMLS_CUI:C0042769 Viral Infection Viral disease virus infection disease_ontology DOID:934 viral infectious disease DOID:934 A disease by infectious agent that results in infection, has_material_basis_in Viruses. url:http://www.merck.com/mmhe/sec17/ch198/ch198a.html DOID:12562 DOID:12833 Complete unilateral cleft palate with cleft lip (disorder) Unilateral complete cleft palate with cleft lip Unilateral complete cleft palate with cleft lip (disorder) Unilateral incomplete cleft palate with cleft lip Unilateral incomplete cleft palate with cleft lip (disorder) cleft palate with cleft lip, unilateral, complete cleft palate with cleft lip, unilateral, incomplete incomplete unilateral cleft palate with cleft lip (disorder) disease_ontology DOID:9340 obsolete cheilopalatoschisis true DOID:9340 ICD10CM:N36.1 ICD9CM:599.2 NCI:C39861 SNOMEDCT_US_2023_03_01:90531003 UMLS_CUI:C0152443 disease_ontology DOID:9341 urethral diverticulum DOID:9341 ICD9CM:625.5 SNOMEDCT_US_2023_03_01:156027002 UMLS_CUI:C0152078 Congestion-fibrosis syndrome Taylor syndrome pelvic congestion syndrome disease_ontology DOID:9346 Taylor's syndrome DOID:9346 ICD10CM:I77.71 ICD9CM:443.21 NCI:C125662 SNOMEDCT_US_2023_03_01:230729006 UMLS_CUI:C0338585 Dissection of carotid artery disease_ontology DOID:9348 carotid artery dissection DOID:9348 A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. DOID:0081062 ICD10CM:E08-E13 ICD9CM:250 MESH:D003920 NCI:C2985 SNOMEDCT_US_2023_03_01:267467004 UMLS_CUI:C0011849 diabetes disease_ontology DOID:9351 diabetes mellitus DOID:9351 A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. url:http://www.who.int/diabetes/action_online/basics/en/ url:https://en.wikipedia.org/wiki/Diabetes_mellitus url:https://medlineplus.gov/diabetes.html url:https://www.ncbi.nlm.nih.gov/pubmed/9686693 A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. ICD10CM:E11 KEGG:04930 MESH:D003924 MIM:125853 MIM:601283 MIM:601407 MIM:603694 MIM:608036 NCI:C26747 SNOMEDCT_US_2023_03_01:44054006 UMLS_CUI:C0011860 NIDDM insulin resistance non-insulin-dependent diabetes mellitus type 2 diabetes type II diabetes mellitus disease_ontology DOID:9352 Xref MGI. OMIM mapping confirmed by DO. [SN]. type 2 diabetes mellitus DOID:9352 A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. url:http://en.wikipedia.org/wiki/Diabetes url:http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2 NIDDM Congen. disloc. hip Congenital dislocation of hip Congenital dislocation of hip NOS Congenital dislocation of hip NOS (disorder) Congenital dysplasia of the hip Developmental dislocation of hip Developmental dysplasia of the hip disease_ontology DOID:9353 obsolete congenital hip dislocation true DOID:9353 disease_ontology DOID:9357 obsolete hyperemesis gravidarum true DOID:9357 ICD9CM:726.63 SNOMEDCT_US_2023_03_01:77323000 UMLS_CUI:C0158316 disease_ontology DOID:9358 fibular collateral ligament bursitis DOID:9358 disease_ontology DOID:9359 obsolete enthesopathy of knee true DOID:9359 A central nervous system disease that is located_in the brain. DOID:8510 ICD10CM:G93.40 ICD10CM:G93.9 ICD9CM:348.30 ICD9CM:348.9 MESH:D001927 NCI:C26920 NCI:C96413 SNOMEDCT_US_2023_03_01:81308009 UMLS_CUI:C0006111 UMLS_CUI:C0085584 encephalopathy disease_ontology DOID:936 brain disease DOID:936 A central nervous system disease that is located_in the brain. url:https://medlineplus.gov/braindiseases.html A chronic asthma that is triggered by factors not attributable to allergies. DOID:9361 DOID:9363 ICD10CM:J45 ICD9CM:493.1 SNOMEDCT_US_2023_03_01:266397004 UMLS_CUI:C0155880 non-atopic asthma disease_ontology DOID:9360 intrinsic asthma DOID:9360 A chronic asthma that is triggered by factors not attributable to allergies. url:http://www.aafa.org/display.cfm?id=8&sub=17 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1532783/pdf/califmed00272-0002b.pdf url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099102/ An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant. ICD9CM:493.91 MESH:D013224 NCI:C122577 SNOMEDCT_US_2023_03_01:36979006 UMLS_CUI:C0038218 Asthma with status asthmaticus Severe asthma attack disease_ontology DOID:9362 status asthmaticus DOID:9362 An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant. url:https://www.ncbi.nlm.nih.gov/books/NBK526070/ url:https://www.ncbi.nlm.nih.gov/pubmed/11399724 ICD10CM:N49.0 ICD9CM:608.0 SNOMEDCT_US_2023_03_01:155935006 UMLS_CUI:C0042588 Seminal vesiculitis disease_ontology DOID:9365 vesiculitis DOID:9365 DOID:9367 ICD10CM:H16.2 ICD9CM:370.40 MESH:D007637 NCI:C34744 SNOMEDCT_US_2023_03_01:155154005 UMLS_CUI:C0022573 disease_ontology DOID:9368 keratoconjunctivitis DOID:9368 ICD10CM:H05.11 MESH:D016727 SNOMEDCT_US_2023_03_01:72789009 UMLS_CUI:C0085270 Pseudotumor of orbit orbital myositis disease_ontology DOID:9369 orbital plasma cell granuloma DOID:9369 A viral infectious disease that results_in infection, has_material_basis_in DNA viruses, which have DNA as their genetic material and replicate using a DNA-dependent DNA polymerase. disease_ontology DOID:937 obsolete DNA virus infectious disease true DOID:937 A viral infectious disease that results_in infection, has_material_basis_in DNA viruses, which have DNA as their genetic material and replicate using a DNA-dependent DNA polymerase. url:http://en.wikipedia.org/wiki/DNA_viruses An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit. ICD10CM:H05.20 ICD9CM:376.30 MESH:D005094 NCI:C87114 SNOMEDCT_US_2022_03_01:155200004 UMLS_CUI:C0015300 proptosis disease_ontology DOID:9370 doid/symp duplicate - reviewed 10/2022 & determined to be a symptom obsolete exophthalmos true DOID:9370 An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit. url:http://en.wikipedia.org/wiki/Exophthalmos A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra. disease_ontology DOID:9373 postural kyphosis DOID:9373 A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra. url:http://en.wikipedia.org/wiki/Kyphosis url:http://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html url:http://www.mayoclinic.com/health/kyphosis/DS00681/DSECTION=causes A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. GARD:6791 ICD10CM:H20.81 ICD9CM:364.21 SNOMEDCT_US_2023_03_01:11226001 UMLS_CUI:C0016782 Fuch's Heterochromic iridocyclitis Fuchs uveitis syndrome Fuchs' heterochromic cyclitis disease_ontology DOID:9375 Fuchs' heterochromic uveitis DOID:9375 A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. url:http://en.wikipedia.org/wiki/Fuchs_heterochromic_iridocyclitis Pigmentary iris degeneration Pigmentary iris degeneration (disorder) disease_ontology DOID:9377 obsolete pigment dispersion syndrome of iris true DOID:9377 GARD:10737 ICD9CM:364.22 SNOMEDCT_US_2023_03_01:29538005 UMLS_CUI:C0152138 Posner-Schlossman syndrome Terrien-Viel syndrome disease_ontology DOID:9378 glaucomatocyclitic crisis DOID:9378 Glaucoma associated with ocular inflammations Glaucoma associated with ocular inflammations (disorder) disease_ontology DOID:9379 obsolete glaucoma with ocular inflammation true DOID:9379 DOID:9376 DOID:9380 ICD10CM:H20.01 ICD9CM:364.01 ICD9CM:364.2 SNOMEDCT_US_2023_03_01:193485000 SNOMEDCT_US_2023_03_01:193496008 UMLS_CUI:C0007832 UMLS_CUI:C0154909 primary iridocyclitis disease_ontology DOID:9383 iridocyclitis MESH:D015863 DOID:9383 ICD10CM:A54.32 ICD9CM:098.41 SNOMEDCT_US_2023_03_01:186922002 UMLS_CUI:C0153212 disease_ontology DOID:9384 gonococcal iridocyclitis DOID:9384 disease_ontology DOID:9385 obsolete gonococcal eye infectious disease true DOID:9385 ICD10CM:H20.2 ICD9CM:364.23 SNOMEDCT_US_2023_03_01:70461003 UMLS_CUI:C0339320 disease_ontology DOID:9388 lens-induced iridocyclitis DOID:9388 ICD10CM:H20.03 ICD9CM:364.03 SNOMEDCT_US_2023_03_01:193487008 UMLS_CUI:C0154911 Infectious secondary iridocyclitis secondary infected iridocyclitis secondary iridocyclitis, infectious disease_ontology DOID:9389 infectious anterior uveitis DOID:9389 A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. DOID:0050149 DOID:9391 ICD10CM:J04.1 ICD9CM:464.1 MESH:D014136 NCI:C78643 SNOMEDCT_US_2023_03_01:155507000 SNOMEDCT_US_2023_03_01:62994001 UMLS_CUI:C0040584 UMLS_CUI:C0149513 acute tracheitis chronic tracheitis disease_ontology DOID:9392 tracheitis MESH:D014136 DOID:9392 A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. url:http://www.merck.com/mmpe/sec19/ch277/ch277j.html?qt=tracheitis&alt=sh A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus. ICD10CM:J05.0 ICD9CM:464.4 MESH:D003440 NCI:C26735 SNOMEDCT_US_2023_03_01:71186008 UMLS_CUI:C0010380 Croup syndrome Laryngotracheobronchitis acute Obstructive Laryngitis acute laryngotracheobronchitis disease_ontology DOID:9395 croup DOID:9395 A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus. url:http://books.google.com/books?id=G6k0tpPMRsIC&pg=PA254&lpg=PA254&dq#v=onepage&q=&f=false url:http://www.nlm.nih.gov/medlineplus/ency/article/000959.htm url:https://www.merriam-webster.com/dictionary/croup#medicalDictionary A laryngitis which lasts less than a few days. DOID:12334 ICD10CM:J04.0 ICD9CM:464.0 ICD9CM:464.01 NCI:C26688 SNOMEDCT_US_2023_03_01:155506009 SNOMEDCT_US_2023_03_01:408669002 UMLS_CUI:C0001327 UMLS_CUI:C0949123 disease_ontology DOID:9396 acute laryngitis DOID:9396 A laryngitis which lasts less than a few days. url:http://en.wikipedia.org/wiki/Laryngitis An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor. DOID:9397 DOID:9479 DOID:9481 ICD10CM:J05.1 ICD10CM:J05.10 ICD9CM:464.3 MESH:D004826 NCI:C116007 SNOMEDCT_US_2023_03_01:29608009 SNOMEDCT_US_2023_03_01:80384002 UMLS_CUI:C0014541 UMLS_CUI:C0155814 acute epiglottitis acute epiglottitis and supraglottitis disease_ontology DOID:9398 epiglottitis DOID:9398 An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor. url:http://en.wikipedia.org/wiki/Epiglottitis ICD10CM:N45.3 ICD9CM:604 SNOMEDCT_US_2023_03_01:24084007 UMLS_CUI:C0149881 disease_ontology DOID:9401 epididymo-orchitis DOID:9401 ICD10CM:N45.1 MESH:D004823 SNOMEDCT_US_2023_03_01:155914009 UMLS_CUI:C0014534 disease_ontology DOID:9402 epididymitis DOID:9402 disease_ontology DOID:9403 obsolete isolated explosive disorder true DOID:9403 Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)] Lorain - Levi dwarfism hypopituitary dwarfism disease_ontology DOID:9405 obsolete pituitary dwarfism true DOID:9405 A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland. GARD:2917 ICD10CM:E23.0 MESH:D007018 NCI:C62591 ORDO:95494 SNOMEDCT_US_2023_03_01:74728003 UMLS_CUI:C0020635 Pituitary insufficiency pituitary hormone deficiency disease_ontology Pituitary hypofunction DOID:9406 Xref MGI. hypopituitarism DOID:9406 A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland. url:http://en.wikipedia.org/wiki/Hypopituitarism ICD9CM:410.60 UMLS_CUI:C0155652 disease_ontology DOID:9407 strictly posterior acute myocardial infarction DOID:9407 ICD10CM:I21 ICD9CM:410 NCI:C35204 SNOMEDCT_US_2023_03_01:155304006 UMLS_CUI:C0155626 disease_ontology DOID:9408 acute myocardial infarction DOID:9408 A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration. ICD10CM:E23.2 ICD9CM:253.5 MESH:D003919 NCI:C43263 SNOMEDCT_US_2023_03_01:190484000 UMLS_CUI:C0011848 disease_ontology DOID:9409 diabetes insipidus DOID:9409 A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration. url:https://pubmed.ncbi.nlm.nih.gov/26913870/ url:https://pubmed.ncbi.nlm.nih.gov/27156759/ url:https://pubmed.ncbi.nlm.nih.gov/28476225/ url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7426034/ A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone. ICD10CM:E23.0 ICD9CM:253.2 MESH:C580003 MIM:PS613038 NCI:C110940 ORDO:90695 SNOMEDCT_US_2023_03_01:154700009 UMLS_CUI:C0242343 Simmond's disease Simmonds' disease panhypopituitarism disease_ontology DOID:9410 combined pituitary hormone deficiency DOID:9410 A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone. url:https://www.ncbi.nlm.nih.gov/pubmed/27828722 Gonococcal endocarditis (disorder) disease_ontology DOID:9411 obsolete gonococcal endocarditis true DOID:9411 disease_ontology DOID:9413 obsolete Congenital abnormalities of uterus complicating pregnancy, childbirth, or the puerperium true DOID:9413 disease_ontology DOID:9414 obsolete abnormality of organs and soft tissues of pelvis complicating pregnancy, childbirth, or the puerperium true DOID:9414 An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness. DOID:9416 DOID:9417 ICD10CM:J45 ICD9CM:493.0 SNOMEDCT_US_2023_03_01:195968006 UMLS_CUI:C0155877 extrinsic asthma with acute exacerbation extrinsic asthma with status asthmaticus disease_ontology atopic asthma DOID:9415 allergic asthma DOID:9415 An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness. url:http://www.aafa.org/display.cfm?id=8&sub=16 url:https://www.ncbi.nlm.nih.gov/books/NBK526018/ abscess of eyelid (disorder) disease_ontology DOID:9422 obsolete abscess of eyelid true DOID:9422 An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. DOID:13824 ICD10CM:H01.0 ICD9CM:373.0 ICD9CM:373.4 MESH:D001762 NCI:C112183 SNOMEDCT_US_2023_03_01:193907001 SNOMEDCT_US_2023_03_01:193920003 UMLS_CUI:C0005741 UMLS_CUI:C0155181 disease_ontology DOID:9423 blepharitis DOID:9423 An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. url:http://en.wikipedia.org/wiki/Blepharitis A pulmonary tuberculosis characterized by bronchial compression and obstruction as a result of enlarged lymph nodes of the primary complex or by infiltration of the wall of the bronchi by caseous lymph nodes. disease_ontology DOID:9426 obsolete tuberculous bronchiectasis true DOID:9426 ICD10CM:I67.4 ICD9CM:437.2 MESH:D020343 NCI:C3503 SNOMEDCT_US_2023_03_01:155408008 UMLS_CUI:C0151620 disease_ontology DOID:9427 hypertensive encephalopathy DOID:9427 A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema. MESH:D019586 NCI:C84791 SNOMEDCT_US_2023_03_01:155052007 UMLS_CUI:C0151740 Raised intracranial pressure disease_ontology DOID:9428 intracranial hypertension DOID:9428 A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema. url:https://en.wikipedia.org/wiki/Brain_herniation url:https://en.wikipedia.org/wiki/Intracranial_pressure A renal tubular transport disease characterized by decreased renal tubular resorption of glucose from the urine in the absence of hyperglycemia and other signs of tubular dysfunction. ICD9CM:271.4 SNOMEDCT_US_2023_03_01:267430007 UMLS_CUI:C0017980 renal diabetes renal glucosuria disease_ontology DOID:9432 renal glycosuria ICD10CM:E74.818 ICD9CM:271.4 SNOMEDCT_US_2023_03_01:267430007 UMLS_CUI:C0017980 DOID:9432 A renal tubular transport disease characterized by decreased renal tubular resorption of glucose from the urine in the absence of hyperglycemia and other signs of tubular dysfunction. url:https://www.merckmanuals.com/professional/genitourinary-disorders/renal-transport-abnormalities/renal-glucosuria url:https://www.ncbi.nlm.nih.gov/books/NBK557441/ NCI:C35335 SNOMEDCT_US_2023_03_01:71912000 UMLS_CUI:C0267918 disease_ontology DOID:9439 chronic cholangitis DOID:9439 A cervical benign neoplasm that is a polypoid lesion of the superficial cervix or vagina of young girls to adult women and is characterized by papillary stalks covered by mucinous epithelium with focal squamous metaplasia, highly cellular fibrous tissue, no atypia, and minimal mitotic activity. NCI:C40215 UMLS_CUI:C1516427 cervical Muellerian papilloma disease_ontology DOID:9442 cervical Mullerian papilloma DOID:9442 A cervical benign neoplasm that is a polypoid lesion of the superficial cervix or vagina of young girls to adult women and is characterized by papillary stalks covered by mucinous epithelium with focal squamous metaplasia, highly cellular fibrous tissue, no atypia, and minimal mitotic activity. url:http://www.pathologyoutlines.com/topic/cervixmesonephricpap.html url:https://www.ncbi.nlm.nih.gov/pubmed/22935300, disease_ontology DOID:9443 obsolete cervix blue nevus true DOID:9443 A cervical benign neoplasm that is a polypoid lesion characterized by a single papillary frond with a central fibrovascular core and mature squamous epithelium. NCI:C6342 UMLS_CUI:C1336900 squamous papilloma of the Cervix Uteri disease_ontology DOID:9445 cervix squamous papilloma DOID:9445 A cervical benign neoplasm that is a polypoid lesion characterized by a single papillary frond with a central fibrovascular core and mature squamous epithelium. url:http://www.pathologyoutlines.com/topic/cervixsquamouspapilloma.html url:https://www.ncbi.nlm.nih.gov/pubmed/13005077 A bile duct disease that is an inflammation of the bile duct. ICD10CM:K83.0 ICD9CM:576.1 MESH:D002761 NCI:C26718 SNOMEDCT_US_2023_03_01:155831003 UMLS_CUI:C0008311 disease_ontology DOID:9446 cholangitis DOID:9446 A bile duct disease that is an inflammation of the bile duct. url:http://en.wikipedia.org/wiki/Cholangitis DOID:11281 DOID:12523 DOID:12963 DOID:13600 DOID:1437 DOID:1438 DOID:1879 DOID:1880 disease_ontology DOID:9450 obsolete infectious disease of the breast and nipple associated with childbirth true DOID:9450 A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes. DOID:9451 ICD10CM:K70.0 ICD9CM:571.0 MESH:D005234 MESH:D005235 MIM:228100 SNOMEDCT_US_2023_03_01:371330000 SNOMEDCT_US_2023_03_01:50325005 UMLS_CUI:C0015695 UMLS_CUI:C0015696 Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis cryptogenic steatotic liver disease disease_ontology DOID:9452 PRISM. steatotic liver disease DOID:9452 A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes. url:https://pubmed.ncbi.nlm.nih.gov/27099587/ url:https://pubmed.ncbi.nlm.nih.gov/37364816/ SLD A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. DOID:10583 ICD10CM:E75.6 ICD9CM:272.7 ICD9CM:272.8 MESH:D008064 SNOMEDCT_US_2023_03_01:11455007 SNOMEDCT_US_2023_03_01:154744007 UMLS_CUI:C0023794 UMLS_CUI:C0029591 Lipoid storage diseas inborn lipid storage disorder lipoidosis disease_ontology DOID:9455 lipid storage disease DOID:9455 A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. url:http://en.wikipedia.org/wiki/Lipidoses ICD9CM:182.1 UMLS_CUI:C0153575 disease_ontology DOID:9459 isthmus cancer DOID:9459 A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue. DOID:13792 MESH:D004030 UMLS_CUI:C0012147 intestinal trichomoniasis disease_ontology DOID:946 dientamoebiasis DOID:946 A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue. url:http://www.cdc.gov/ncidod/dpd/parasites/dientamoeba/factsht_dientamoeba.htm A uterine cancer that is located_in the uterine corpus. ICD10CM:C54 ICD9CM:182 NCI:C3556 SNOMEDCT_US_2023_03_01:93718007 UMLS_CUI:C0153574 corpus uteri cancer disease_ontology DOID:9460 uterine corpus cancer DOID:9460 A uterine cancer that is located_in the uterine corpus. url:http://en.wikipedia.org/wiki/Uterine_cancer url:http://en.wikipedia.org/wiki/Uterus ICD10CM:H16.21 ICD9CM:370.34 SNOMEDCT_US_2023_03_01:14366000 UMLS_CUI:C0339295 Exposure keratoconjunctivitis lagophthalmic keratitis disease_ontology DOID:9461 exposure keratitis DOID:9461 A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery. ICD10CM:H60.4 ICD9CM:380.21 SNOMEDCT_US_2023_03_01:35247001 UMLS_CUI:C0155398 external canal cholesteatoma disease_ontology DOID:9462 cholesteatoma of external ear DOID:9462 A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery. url:http://www.ncbi.nlm.nih.gov/sites/entrez/10993445 url:http://www.ncbi.nlm.nih.gov/sites/entrez/15763298 An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections. DOID:9785 ICD9CM:380.1 NCI:C3299 SNOMEDCT_US_2023_03_01:194198006 UMLS_CUI:C0021355 swimmer's ear disease_ontology DOID:9463 otitis externa DOID:9463 An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections. url:http://en.wikipedia.org/wiki/Otitis_externa A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3. GARD:7160 ICD10CM:Q87.2 MEDDRA:10063431 MESH:D009261 MIM:161200 NCI:C75120 ORDO:2614 SNOMEDCT_US_2023_03_01:22199006 UMLS_CUI:C0027341 Fong disease Turner-Kiser syndrome hereditary onychoostedysplasia iliac horn syndrome nail patella syndrome disease_ontology DOID:9467 OMIM mapping confirmed by DO. [SN]. nail-patella syndrome DOID:9467 A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3. url:https://www.ncbi.nlm.nih.gov/pubmed/15416035 url:https://www.ncbi.nlm.nih.gov/pubmed/9590287 disease_ontology DOID:9468 obsolete Salmonella meningitis true DOID:9468 A meningitis that has_material_basis_in a bacterial infection. GARD:5881 ICD10CM:G00 ICD9CM:320 MESH:D016920 NCI:C118297 SNOMEDCT_US_2023_03_01:267680008 UMLS_CUI:C0085437 disease_ontology DOID:9470 bacterial meningitis DOID:9470 A meningitis that has_material_basis_in a bacterial infection. url:https://en.wikipedia.org/wiki/Meningitis#Bacterial A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. DOID:9712 ICD10CM:G03 ICD9CM:322.9 MESH:D008581 NCI:C26828 SNOMEDCT_US_2023_03_01:154983000 UMLS_CUI:C0025289 disease_ontology DOID:9471 meningitis DOID:9471 A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. url:http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=mmed.section.5162 ICD9CM:355.8 SNOMEDCT_US_2023_03_01:193154003 UMLS_CUI:C0154747 disease_ontology DOID:9473 mononeuritis of lower limb DOID:9473 GARD:7630 ICD10CM:E23.0 MESH:D007018 NCI:C35300 SNOMEDCT_US_2023_03_01:15045007 UMLS_CUI:C0242342 Postpartum Hypopituitarism Sheehan's syndrome disease_ontology DOID:9476 Sheehan syndrome DOID:9476 An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot. ICD10CM:I26 MESH:D011655 NCI:C50713 SNOMEDCT_US_2023_03_01:194882001 UMLS_CUI:C0034065 pulmonary artery embolism pulmonary embolus disease_ontology DOID:9477 PRISM. pulmonary embolism DOID:9477 An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot. url:http://en.wikipedia.org/wiki/Pulmonary_embolism url:http://www.nlm.nih.gov/medlineplus/pulmonaryembolism.html An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth. ICD10CM:F53.0 MESH:D019052 NCI:C92852 SNOMEDCT_US_2023_03_01:58703003 UMLS_CUI:C0221074 Maternity blues postnatal depression disease_ontology DOID:9478 postpartum depression DOID:9478 An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth. url:http://en.wikipedia.org/wiki/Mood_disorder ICD10CM:H01.01 ICD9CM:373.01 SNOMEDCT_US_2023_03_01:91662004 UMLS_CUI:C0155173 disease_ontology DOID:9483 ulcerative blepharitis DOID:9483 A physical disorder that is characterized by a congenital abnormality characterized by the outpouching or sac formation in the ileum. ICD10CM:Q43.0 ICD9CM:751.0 MESH:D008467 MIM:155140 NCI:C12264 SNOMEDCT_US_2023_03_01:37373007 UMLS_CUI:C0025037 Meckel Diverticulum Persistent vitelline duct disease_ontology DOID:9487 OMIM mapping confirmed by DO. [SN]. Meckel's diverticulum DOID:9487 A physical disorder that is characterized by a congenital abnormality characterized by the outpouching or sac formation in the ileum. url:https://en.wikipedia.org/wiki/Meckel's_diverticulum ICD10CM:H04.02 ICD9CM:375.02 SNOMEDCT_US_2023_03_01:4760008 UMLS_CUI:C0155224 disease_ontology DOID:949 chronic dacryoadenitis DOID:949 ICD9CM:386.53 SNOMEDCT_US_2023_03_01:81585005 UMLS_CUI:C0155517 disease_ontology DOID:9496 unilateral hypoactive labyrinth DOID:9496 A hypereosinophilic syndrome characterized by the accumulation of eosinophils in the lungs. ICD9CM:518.3 MESH:D011657 SNOMEDCT_US_2023_03_01:196145005 UMLS_CUI:C0034068 disease_ontology DOID:9498 pulmonary eosinophilia DOID:9498 A hypereosinophilic syndrome characterized by the accumulation of eosinophils in the lungs. url:https://rarediseases.org/rare-diseases/simple-pulmonary-eosinophilia/ SNOMEDCT_US_2023_03_01:423486005 UMLS_CUI:C0263662 disease_ontology DOID:9499 disseminated eosinophilic collagen disease DOID:9499 ICD10CM:H04.0 ICD9CM:375.0 MESH:D003607 NCI:C26971 SNOMEDCT_US_2023_03_01:86927009 UMLS_CUI:C0155223 disease_ontology DOID:950 dacryoadenitis DOID:950 A hematopoietic system disease that is located_in white blood cells. ICD10CM:D72.9 ICD9CM:288 MESH:D007960 SNOMEDCT_US_2023_03_01:191369001 UMLS_CUI:C0023510 disease_ontology DOID:9500 leukocyte disease DOID:9500 A hematopoietic system disease that is located_in white blood cells. url:https://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/ An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease. GARD:1130 GARD:2134 ICD10CM:J82.81 NCI:C34471 SNOMEDCT_US_2023_03_01:233692000 UMLS_CUI:C0008680 Cryptogenic pulmonary eosinophilia disease_ontology DOID:9502 chronic eosinophilic pneumonia DOID:9502 An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease. url:http://www.merck.com/mmhe/print/sec04/ch051/ch051c.html url:http://www.merck.com/mmpe/sec05/ch055/ch055d.html#sec05-ch055-ch055d-849 An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection. ICD10CM:J82.89 MESH:D011657 NCI:C35301 SNOMEDCT_US_2023_03_01:64936001 UMLS_CUI:C0242459 Loeffler's pneumonia Loffler's syndrome disease_ontology DOID:9503 Loeffler syndrome DOID:9503 An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection. url:http://en.wikipedia.org/wiki/L%C3%B6ffler%27s_syndrome url:https://www.merriam-webster.com/medical/Loeffler%27s%20syndrome A breast benign neoplasm that encompasses a range of conditions in which there is marked change in the breast tissue. ICD9CM:610.8 UMLS_CUI:C0156319 disease_ontology DOID:9504 benign mammary dysplasia DOID:9504 A breast benign neoplasm that encompasses a range of conditions in which there is marked change in the breast tissue. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/mammary-dysplasia A substance abuse that involves the recurring use of cannabis despite negative consequences. DOID:2525 ICD10CM:F12 ICD10CM:F12.1 ICD9CM:305.2 MESH:D002189 SNOMEDCT_US_2023_03_01:268769003 SNOMEDCT_US_2023_03_01:37344009 UMLS_CUI:C0006868 UMLS_CUI:C0024809 marijuana abuse disease_ontology DOID:9505 cannabis abuse DOID:9505 A substance abuse that involves the recurring use of cannabis despite negative consequences. url:http://en.wikipedia.org/wiki/Cannabis_%28drug%29 A ethmoid sinusitis which lasts for less than 4 weeks. ICD10CM:J01.2 ICD9CM:461.2 SNOMEDCT_US_2023_03_01:67832005 UMLS_CUI:C0155806 acute ethmoid sinusitis acute ethmoidal sinusitis ethmoidal sinus - acute disease_ontology DOID:9506 acute ethmoiditis DOID:9506 A ethmoid sinusitis which lasts for less than 4 weeks. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead. ICD10CM:J32.2 MESH:D015521 NCI:C34597 SNOMEDCT_US_2023_03_01:18643000 UMLS_CUI:C0015029 ethmoidal sinusitis ethmoiditis disease_ontology DOID:9507 ethmoid sinusitis DOID:9507 A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead. url:http://en.wikipedia.org/wiki/sinusitis url:http://www.merck.com/mmhe/sec19/ch221/ch221i.html Toxic muscle disease disease_ontology DOID:951 obsolete toxic myopathy true DOID:951 ICD10CM:H10.42 ICD9CM:372.11 SNOMEDCT_US_2023_03_01:193866007 UMLS_CUI:C0155146 disease_ontology DOID:9512 simple chronic conjunctivitis DOID:9512 A plasma cell neoplasm that is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count. GARD:9373 ICD10CM:C90.1 ICD9CM:203.1 ICDO:9733/3 MESH:D007952 NCI:C3180 SNOMEDCT_US_2023_03_01:269630009 UMLS_CUI:C0023484 plasma cell leukaemia plasmacytic leukaemia plasmacytic leukemia disease_ontology DOID:9513 plasma cell leukemia DOID:9513 A plasma cell neoplasm that is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count. url:https://en.wikipedia.org/wiki/Plasma_cell_leukemia url:https://rarediseases.info.nih.gov/diseases/9373/index url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349791/ disease_ontology DOID:9514 obsolete multiple myeloma and immunoproliferative neoplasm true DOID:9514 disease_ontology DOID:9518 obsolete abortion complicated by renal failure true DOID:9518 ICD10CM:H04.01 ICD9CM:375.01 SNOMEDCT_US_2023_03_01:2589008 UMLS_CUI:C0149505 disease_ontology DOID:952 acute dacryoadenitis DOID:952 A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12. GARD:6859 ICD10CM:E34.321 MESH:D046150 MIM:262500 NCI:C130994 ORDO:633 SNOMEDCT_US_2023_03_01:38196001 UMLS_CUI:C0271568 Laron-type isolated somatotropin defect disease_ontology DOID:9521 OMIM mapping confirmed by DO. [SN]. Laron syndrome DOID:9521 A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12. url:https://ghr.nlm.nih.gov/condition/laron-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/8488849 disease_ontology DOID:9528 obsolete acute renal failure with lesion of renal medullary necrosis true DOID:9528 disease_ontology DOID:9530 obsolete Rhesus isoimmunisation affecting management of mother true DOID:9530 A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease. DOID:12912 DOID:12913 DOID:9492 ICD10CM:A53.0 ICD9CM:097.1 MESH:D013592 NCI:C35056 SNOMEDCT_US_2023_03_01:444150000 UMLS_CUI:C0039133 disease_ontology DOID:9531 latent syphilis DOID:9531 A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease. url:http://en.wikipedia.org/wiki/Syphilis#Latent_syphilis A pneumothorax in which air enters into the pleural cavity. ICD10CM:A15.0 ICD9CM:011.7 SNOMEDCT_US_2023_03_01:29731002 UMLS_CUI:C0152600 disease_ontology DOID:9534 tuberculous pneumothorax DOID:9534 A pneumothorax in which air enters into the pleural cavity. url:http://books.google.com/books?id=9QcpAAAAYAAJ&pg=PA492&lpg#v=onepage&q=&f=false A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus. DOID:4185 american hemorrhagic fever arenaviral hemorrhagic fever disease_ontology DOID:9535 obsolete Arenavirus hemorrhagic fever true DOID:9535 A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus. url:http://en.wikipedia.org/wiki/Hemorrhagic_fever url:http://jama.ama-assn.org/cgi/reprint/287/18/2391 A viral infectious disease that results_in infection, has_material_basis_in Mammarenavirus lassaense, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding. ICD10CM:A96.2 MESH:D007835 NCI:C128418 SNOMEDCT_US_2023_03_01:19065005 UMLS_CUI:C0023092 disease_ontology DOID:9537 Lassa fever DOID:9537 A viral infectious disease that results_in infection, has_material_basis_in Mammarenavirus lassaense, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding. url:http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lassaf.htm A myeloid neoplasm that is located_in the plasma cells in bone marrow. EFO:0001378 GARD:7108 ICD10CM:C90.0 ICD9CM:203.0 MESH:D009101 MIM:254500 NCI:C3242 ORDO:29073 SNOMEDCT_US_2023_03_01:94705007 UMLS_CUI:C0026764 myeloma disease_ontology DOID:9538 OMIM mapping confirmed by DO. [SN]. multiple myeloma DOID:9538 A myeloid neoplasm that is located_in the plasma cells in bone marrow. url:http://en.wikipedia.org/wiki/Multiple_myeloma url:http://www.cancer.gov/dictionary?CdrID=411384 ICD9CM:709.1 MESH:D017445 NCI:C35254 SNOMEDCT_US_2023_03_01:11263005 UMLS_CUI:C0162819 disease_ontology DOID:9540 vascular skin disease DOID:9540 SNOMEDCT_US_2023_03_01:42215000 UMLS_CUI:C1510415 disease_ontology DOID:9541 osteosclerotic myeloma DOID:9541 disease_ontology DOID:9543 obsolete plasma cell myeloma PTLD true DOID:9543 NCI:C7813 UMLS_CUI:C0278620 disease_ontology DOID:9544 refractory plasma cell neoplasm DOID:9544 disease_ontology DOID:9545 obsolete recurrent plasma cell neoplasm true DOID:9545 SNOMEDCT_US_2023_03_01:277580004 UMLS_CUI:C0456845 disease_ontology DOID:9547 non-secretory myeloma DOID:9547 UMLS_CUI:C0854906 disease_ontology DOID:955 Duplicate disease (UMLS). obsolete benign neurilemmoma true DOID:955 A multiple myeloma that is characterized by M protein in serum and/or urine and evidence of organ damage related the plasma cell neoplasm. NCI:C7150 SNOMEDCT_US_2023_03_01:441313008 UMLS_CUI:C2049069 indolent myeloma disease_ontology DOID:9550 indolent plasma cell myeloma DOID:9550 A multiple myeloma that is characterized by M protein in serum and/or urine and evidence of organ damage related the plasma cell neoplasm. url:https://seer.cancer.gov/seertools/hemelymph/51f6cf5ae3e27c3994bd54aa/ A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody. disease_ontology DOID:9551 smoldering myeloma DOID:9551 A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody. url:http://www.cancer.gov/dictionary/?CdrID=413932 disease_ontology DOID:9552 obsolete adrenal gland hypofunction true DOID:9552 An endocrine system disease that is located_in the adrenal gland. ICD10CM:E27.9 ICD9CM:255.9 MESH:D000307 NCI:C26690 SNOMEDCT_US_2023_03_01:30171000 UMLS_CUI:C0001621 disease_ontology DOID:9553 adrenal gland disease DOID:9553 An endocrine system disease that is located_in the adrenal gland. url:http://en.wikipedia.org/wiki/Adrenal_gland_disease NCI:C41430 UMLS_CUI:C1519001 disease_ontology DOID:956 peripheral nerve schwannoma DOID:956 MESH:D009302 NCI:C35723 SNOMEDCT_US_2023_03_01:123952009 UMLS_CUI:C0027438 disease_ontology DOID:9561 nasopharyngeal disease DOID:9561 A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. DOID:2925 GARD:4484 MESH:D002925 MIM:PS244400 NCI:C84638 ORDO:244 SNOMEDCT_US_2023_03_01:86204009 UMLS_CUI:C0008780 ciliary motility disorder immotile ciliary syndrome disease_ontology DOID:9562 Xref MGI. OMIM mapping confirmed by DO. [SN]. primary ciliary dyskinesia DOID:9562 A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. url:http://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. DOID:11046 DOID:11047 DOID:9571 ICD10CM:J47 ICD9CM:494 MESH:D001987 MIM:211400 MIM:613021 MIM:613071 MIM:PS211400 NCI:C84475 ORDO:60033 SNOMEDCT_US_2023_03_01:155580000 UMLS_CUI:C0006267 Polynesian bronchiectasis disease_ontology DOID:9563 Xref MGI. OMIM mapping confirmed by DO. [SN]. bronchiectasis DOID:9563 A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. url:http://www.merck.com/mmhe/sec04/ch047/ch047a.html url:https://www.merriam-webster.com/dictionary/bronchiectasis#medicalDictionary GARD:1827 ICD10CM:Q24.0 MESH:D003914 NCI:C84669 SNOMEDCT_US_2023_03_01:27637000 UMLS_CUI:C0011813 Heart predominantly in right hemithorax disease_ontology DOID:9565 dextrocardia DOID:9565 DOID:14713 ICD10CM:Q30.0 ICD9CM:748.0 MESH:C562435 MESH:D002754 MIM:608911 SNOMEDCT_US_2023_03_01:156934002 UMLS_CUI:C0008297 UMLS_CUI:C0220723 Atresia of nares Imperforate nares posterior choanal atresia disease_ontology DOID:9574 OMIM mapping confirmed by DO. [SN]. choanal atresia DOID:9574 A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates. ICD10CM:P37.5 ICD9CM:771.7 NCI:C116810 SNOMEDCT_US_2023_03_01:3973009 UMLS_CUI:C0276682 Neonatal monilia infection neonatal candida infection neonatal moniliasis disease_ontology DOID:9577 neonatal candidiasis DOID:9577 A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates. url:https://pubmed.ncbi.nlm.nih.gov/25129318/ disease_ontology DOID:9579 obsolete Pseudomonas septicemia true DOID:9579 A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus (Alphavirus venezuelan), which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region. GARD:6355 ICD10CM:A92.2 ICD9CM:066.2 MESH:D004685 NCI:C35121 SNOMEDCT_US_2023_03_01:89990001 UMLS_CUI:C0014078 disease_ontology Venezuelan equine fever DOID:9584 Venezuelan equine encephalitis DOID:9584 A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus (Alphavirus venezuelan), which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region. url:http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm url:https://www.ncbi.nlm.nih.gov/books/NBK559332/ url:https://wwwnc.cdc.gov/eid/article/16/3/09-0970_article An Alphavirus infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, has_material_basis_in Venezuelan equine encephalitis virus, or has_material_basis_in Western equine encephalomyelitis virus, which are transmitted_by moquito bite. The infection has_symptom fever, has_symptom headache, and has_symptom malaise. disease_ontology DOID:9585 obsolete equine encephalitis true DOID:9585 An Alphavirus infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, has_material_basis_in Venezuelan equine encephalitis virus, or has_material_basis_in Western equine encephalomyelitis virus, which are transmitted_by moquito bite. The infection has_symptom fever, has_symptom headache, and has_symptom malaise. url:http://www.state.nj.us/agriculture/divisions/ah/diseases/equine_encephalomyelitis.html A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms. DOID:2160 MESH:D004660 NCI:C26760 SNOMEDCT_US_2023_03_01:267682000 UMLS_CUI:C0014038 disease_ontology DOID:9588 encephalitis DOID:9588 A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms. url:http://en.wikipedia.org/wiki/Encephalitis url:http://www.mayoclinic.org/diseases-conditions/encephalitis/basics/definition/con-20021917 url:http://www.nlm.nih.gov/medlineplus/encephalitis.html ICD10CM:N21.1 ICD9CM:594.2 NCI:C26995 SNOMEDCT_US_2023_03_01:20342001 UMLS_CUI:C0162301 urethral Stone disease_ontology DOID:9589 urethral calculus DOID:9589 NCI:C5344 SNOMEDCT_US_2023_03_01:1197270001 UMLS_CUI:C1333467 disease_ontology DOID:959 esophagus squamous cell papilloma DOID:959 A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone. ICD10CM:N21 ICD9CM:594 SNOMEDCT_US_2023_03_01:79509009 UMLS_CUI:C0156264 disease_ontology DOID:9590 lower urinary tract calculus DOID:9590 A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone. url:http://en.wikipedia.org/wiki/Calculus_%28medicine%29 metastasis to ovary disease_ontology DOID:9594 obsolete ovarian metastasis true DOID:9594 An ovary epithelial cancer that is a metastatic signet-ring cell carcinoma, which spreads to the ovary from gastric tissue. GARD:8627 MESH:D007725 NCI:C3153 SNOMEDCT_US_2023_03_01:4305004 UMLS_CUI:C0022790 Krukenberg neoplasm disease_ontology Krukenberg tumor DOID:9597 Krukenberg carcinoma DOID:9597 An ovary epithelial cancer that is a metastatic signet-ring cell carcinoma, which spreads to the ovary from gastric tissue. url:https://en.wikipedia.org/wiki/Krukenberg_tumor url:https://www.ncbi.nlm.nih.gov/books/NBK482284/ url:https://www.ncbi.nlm.nih.gov/pubmed/29113663 url:https://www.ncbi.nlm.nih.gov/pubmed/29489206 A connective tissue disease characterized by inflammation located in the fascia. ICD10CM:M72.9 ICD9CM:729.4 MESH:D005208 NCI:C50559 SNOMEDCT_US_2023_03_01:36948007 UMLS_CUI:C0015645 disease_ontology DOID:9598 fasciitis DOID:9598 A connective tissue disease characterized by inflammation located in the fascia. url:https://en.wikipedia.org/wiki/Fasciitis url:https://www.mayoclinic.org/diseases-conditions/plantar-fasciitis/symptoms-causes/syc-20354846 NCI:C4728 SNOMEDCT_US_2023_03_01:35548007 UMLS_CUI:C0432528 disease_ontology DOID:9599 proliferative fasciitis DOID:9599 A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness. ICD10CM:A05.0 ICD9CM:005.0 MESH:D013202 NCI:C35037 SNOMEDCT_US_2023_03_01:84622004 UMLS_CUI:C0038159 Staphylococcal food poisoning Staphylococcal toxaemia due to food staphyloenterotoxicosis disease_ontology DOID:96 staphyloenterotoxemia DOID:96 A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness. url:https://pubmed.ncbi.nlm.nih.gov/22091892/ NCI:C3866 SNOMEDCT_US_2023_03_01:276805005 UMLS_CUI:C0238114 disease_ontology DOID:960 esophagus leiomyoma DOID:960 ICD10CM:M72.2 MESH:D036981 SNOMEDCT_US_2023_03_01:203056001 UMLS_CUI:C0149756 disease_ontology DOID:9600 plantar fasciitis DOID:9600 NCI:C6483 SNOMEDCT_US_2023_03_01:403990005 UMLS_CUI:C1304514 Atypical Decubital Fibroplasia disease_ontology DOID:9601 ischemic fasciitis DOID:9601 GARD:6454 ICD10CM:M72.6 ICD9CM:728.86 MESH:D019115 NCI:C84916 SNOMEDCT_US_2023_03_01:186428007 UMLS_CUI:C0238124 disease_ontology DOID:9602 necrotizing fasciitis DOID:9602 NCI:C4729 SNOMEDCT_US_2023_03_01:254738007 UMLS_CUI:C0432529 Intravascular Pseudosarcomatous Fasciitis disease_ontology DOID:9603 intravascular fasciitis DOID:9603 NCI:C5704 UMLS_CUI:C1333463 disease_ontology DOID:961 neurofibroma of the esophagus DOID:961 ICD10CM:R80.2 ICD9CM:593.6 SNOMEDCT_US_2023_03_01:155874000 UMLS_CUI:C0232867 Postural albuminuria disease_ontology DOID:9617 orthostatic proteinuria DOID:9617 GARD:7191 ICDO:9540/0 MESH:D009455 NCI:C3272 SNOMEDCT_US_2023_03_01:404029005 UMLS_CUI:C0027830 disease_ontology DOID:962 neurofibroma DOID:962 A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. ICD10CM:N13.7 ICD9CM:593.7 MESH:D014718 MIM:193000 MIM:314550 MIM:610878 MIM:613674 MIM:614317 MIM:614318 MIM:614319 MIM:614674 MIM:615390 MIM:615963 NCI:C84467 ORDO:289365 SNOMEDCT_US_2023_03_01:197811007 UMLS_CUI:C0042580 vesico-ureteral reflux disease_ontology DOID:9620 Xref MGI. OMIM mapping confirmed by DO. [LS]. vesicoureteral reflux DOID:9620 A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. url:http://en.wikipedia.org/wiki/Vesicoureteral_reflux url:http://ghr.nlm.nih.gov/glossary=vesicoureteralreflux url:http://www.mayoclinic.org/diseases-conditions/vesicoureteral-reflux/basics/definition/con-20031544?_ga=1.233953949.2017809229.1415219956 ICD10CM:N28.1 ICD9CM:593.2 SNOMEDCT_US_2023_03_01:105999006 UMLS_CUI:C0268799 disease_ontology DOID:9621 non-congenital cyst of kidney DOID:9621 ICD10CM:N28.81 ICD9CM:593.1 NCI:C122991 SNOMEDCT_US_2023_03_01:197800004 UMLS_CUI:C0156259 disease_ontology DOID:9622 kidney hypertrophy DOID:9622 A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement. GARD:9851 MESH:C580065 ORDO:211062 SNOMEDCT_US_2023_03_01:421455009 UMLS_CUI:C1720189 Isaacs syndrome disease_ontology DOID:963 Xref MGI. OMIM mapping confirmed by DO. [SN]. Updated outdated UMLS CUI. episodic ataxia DOID:963 A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement. url:http://en.wikipedia.org/wiki/Episodic_ataxia url:http://ghr.nlm.nih.gov/condition/episodic-ataxia disease_ontology DOID:9630 obsolete genetic anomaly of leucocyte true DOID:9630 A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12. GARD:9148 MESH:D010381 MIM:169400 NCI:C85002 SNOMEDCT_US_2023_03_01:85559002 UMLS_CUI:C0030779 disease_ontology DOID:9631 OMIM mapping confirmed by DO. [SN]. Pelger-Huet anomaly DOID:9631 A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12. url:https://www.ncbi.nlm.nih.gov/pubmed/12118250 A mouth disease that is characterized by inflammation of the mouth and lips. ICD10CM:K12.1 MESH:D013280 NCI:C26887 SNOMEDCT_US_2023_03_01:95361005 UMLS_CUI:C0038362 disease_ontology DOID:9637 stomatitis DOID:9637 A mouth disease that is characterized by inflammation of the mouth and lips. url:https://en.wikipedia.org/wiki/Stomatitis A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy. ICD10CM:A07.8 ICD9CM:136.5 MESH:D012523 ORDO:54368 SNOMEDCT_US_2023_03_01:88905005 UMLS_CUI:C0036231 Sarcosporidiosis disease_ontology DOID:9640 sarcocystosis DOID:9640 A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy. url:http://www.cfsph.iastate.edu/Factsheets/pdfs/sarcocystosis.pdf url:http://www.dpd.cdc.gov/DPDx/HTML/Sarcocystosis.htm DOID:9641 DOID:9813 Sydenham's chorea chorea minor disease_ontology DOID:9642 obsolete rheumatic chorea true DOID:9642 A parasitic protozoa infectious disease that has_symptom mild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease. GARD:5878 ICD10CM:B60.0 ICD9CM:088.82 MESH:D001404 NCI:C84581 SNOMEDCT_US_2023_03_01:187241002 UMLS_CUI:C0004576 Babesiasis Infection by babesia piroplasmosis disease_ontology DOID:9643 babesiosis DOID:9643 A parasitic protozoa infectious disease that has_symptom mild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease. url:http://en.wikipedia.org/wiki/Babesiosis DOID:1298 DOID:1299 DOID:1300 disease_ontology DOID:9647 obsolete obstructed labor true DOID:9647 A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. ICD10CM:H55.01 ICD9CM:379.51 MESH:D020417 MIM:PS310700 ORDO:651 SNOMEDCT_US_2023_03_01:155205009 UMLS_CUI:C0700501 disease_ontology DOID:9649 Xref MGI. congenital nystagmus DOID:9649 A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. url:http://en.wikipedia.org/wiki/Nystagmus url:http://ghr.nlm.nih.gov/glossary=nystagmus url:http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/approach_to_the_patient_with_ear_problems/evaluation_of_ear_disorders.html#v942669 ICD10CM:H55.0 ICD9CM:379.50 MESH:D009759 NCI:C3282 SNOMEDCT_US_2023_03_01:194171007 UMLS_CUI:C0028738 disease_ontology DOID:9650 pathologic nystagmus DOID:9650 ICD10CM:I50.20 ICD9CM:428.2 MESH:D054143 SNOMEDCT_US_2023_03_01:417996009 UMLS_CUI:C1135191 disease_ontology DOID:9651 systolic heart failure DOID:9651 DOID:10855 DOID:14078 DOID:9652 disease_ontology DOID:9653 obsolete Pre-eclampsia or eclampsia superimposed on pre-existing hypertension true DOID:9653 DOID:13703 DOID:9844 DOID:9845 disease_ontology DOID:9654 obsolete hypertension complicating pregnancy, childbirth and the puerperium true DOID:9654 A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking. ICD10CM:K13.21 ICD9CM:528.6 UMLS_CUI:C1112530 disease_ontology DOID:9655 oral mucosa leukoplakia DOID:9655 A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking. url:https://www.ncbi.nlm.nih.gov/books/NBK442013/ A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. GARD:5834 ICD9CM:528.2 MESH:D013281 NCI:C62546 SNOMEDCT_US_2023_03_01:398870000 UMLS_CUI:C0038363 Aphtha Aphthous ulceration Canker sore Oral aphthae oral ulcer disease_ontology Oral aphthous ulcer DOID:9663 aphthous stomatitis DOID:9663 A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. url:http://en.wikipedia.org/wiki/Aphthous_stomatitis A placenta disease that is characterized by separation of the placental lining from the uterus of the mother. DOID:12976 DOID:12977 DOID:13233 DOID:13234 DOID:13587 DOID:13627 DOID:14406 DOID:9666 ICD10CM:O20.0 ICD9CM:640.0 MESH:D000033 NCI:C112857 SNOMEDCT_US_2023_03_01:54048003 UMLS_CUI:C0000821 abruptio placenta abruptio placentae disease_ontology DOID:9667 PRISM. placental abruption DOID:9667 A placenta disease that is characterized by separation of the placental lining from the uterus of the mother. url:http://en.wikipedia.org/wiki/Abruptio_placentae A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging. ICD10CM:H25 ICD9CM:366.1 NCI:C35012 SNOMEDCT_US_2023_03_01:39450006 UMLS_CUI:C0036646 disease_ontology DOID:9669 senile cataract DOID:9669 A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging. url:https://eyewiki.aao.org/Cataract GARD:4001 ICD10CM:A69.0 ICD9CM:528.1 MESH:D009625 NCI:C34852 SNOMEDCT_US_2023_03_01:196528007 UMLS_CUI:C0028271 Cancrum oris Gangrenous stomatitis disease_ontology DOID:9672 noma DOID:9672 ICD10CM:K12.1 MESH:D005892 NCI:C35039 SNOMEDCT_US_2023_03_01:450005 UMLS_CUI:C0038367 disease_ontology DOID:9673 ulcerative stomatitis DOID:9673 A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls. ICD10CM:J43.8 ICD9CM:492.8 MIM:130700 SNOMEDCT_US_2023_03_01:195962007 UMLS_CUI:C0029607 disease_ontology DOID:9675 pulmonary emphysema MESH:D011656 DOID:9675 A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls. url:https://my.clevelandclinic.org/health/diseases/9370-emphysema url:https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/pulmonary-emphysema.html url:https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=85&contentid=p01309 disease_ontology DOID:9678 obsolete cervical incompetence complicating pregnancy, childbirth, or the puerperium true DOID:9678 A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term. ICD10CM:N88.3 ICD9CM:622.5 MESH:D002581 NCI:C50607 SNOMEDCT_US_2023_03_01:36836005 UMLS_CUI:C0007871 disease_ontology DOID:9681 cervical incompetence DOID:9681 A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term. url:http://en.wikipedia.org/wiki/Cervical_incompetence A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus (Orthoflavivirus flavi), which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood. DOID:9683 DOID:9684 GARD:7914 ICD10CM:A95 ICD9CM:060 MESH:D015004 NCI:C35547 SNOMEDCT_US_2023_03_01:154345006 UMLS_CUI:C0043395 Sylvatic yellow fever Yellow fever, sylvan jungle yellow fever urban yellow fever disease_ontology DOID:9682 yellow fever DOID:9682 A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus (Orthoflavivirus flavi), which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood. url:http://en.wikipedia.org/wiki/Yellow_fever url:https://www.cdc.gov/yellowfever/ url:https://www.ncbi.nlm.nih.gov/books/NBK470425/ url:https://www.who.int/news-room/fact-sheets/detail/yellow-fever An acute myocarditis that is characterized by an underlying toxin insult to the myocardium that induces acute inflammation. ICD9CM:422.93 SNOMEDCT_US_2023_03_01:31993003 UMLS_CUI:C0155691 disease_ontology DOID:9694 toxic myocarditis DOID:9694 An acute myocarditis that is characterized by an underlying toxin insult to the myocardium that induces acute inflammation. url:https://www.ncbi.nlm.nih.gov/pubmed/27574633 ICD10CM:A54.33 ICD9CM:098.43 SNOMEDCT_US_2023_03_01:186924001 UMLS_CUI:C0153214 disease_ontology DOID:9697 gonococcal keratitis DOID:9697 ICD10CM:A54.39 ICD9CM:098.42 SNOMEDCT_US_2023_03_01:186923007 UMLS_CUI:C0153213 disease_ontology DOID:9698 gonococcal endophthalmia DOID:9698 A bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge. DOID:10601 GARD:2546 ICD10CM:P39.1 ICD9CM:771.6 NCI:C116815 SNOMEDCT_US_2023_03_01:206345004 SNOMEDCT_US_2023_03_01:80881003 UMLS_CUI:C0027611 UMLS_CUI:C0029076 Gonococcal conjunctivitis Gonococcal ophthalmia neonatorum Neonatal conjunctivitis disease_ontology DOID:9699 ophthalmia neonatorum DOID:9699 A bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge. url:https://en.wikipedia.org/wiki/Neonatal_conjunctivitis An arthropathy that is characterized as an inflammation of the lining of the sheath that surrounds a tendon. MESH:D013717 SNOMEDCT_US_2023_03_01:240035004 UMLS_CUI:C0039520 Inflammation of tendon sheath disease_ontology DOID:970 tenosynovitis DOID:970 An arthropathy that is characterized as an inflammation of the lining of the sheath that surrounds a tendon. url:https://medlineplus.gov/ency/article/001242.htm ICD10CM:H10.0 MESH:D003234 NCI:C53656 SNOMEDCT_US_2023_03_01:193877001 UMLS_CUI:C0009768 Purulent conjunctivitis disease_ontology DOID:9700 bacterial conjunctivitis DOID:9700 ICD10CM:H10.82 ICD9CM:372.31 SNOMEDCT_US_2023_03_01:10128002 UMLS_CUI:C0155152 disease_ontology DOID:9709 rosacea conjunctivitis DOID:9709 ICD10CM:M77.9 MESH:D052256 NCI:C97141 SNOMEDCT_US_2023_03_01:312785002 UMLS_CUI:C0039503 disease_ontology DOID:971 tendinitis DOID:971 ICD10CM:K82.0 ICD9CM:575.2 NCI:C78308 SNOMEDCT_US_2023_03_01:197415009 UMLS_CUI:C0156214 Obstruction of gallbladder disease_ontology DOID:9714 occlusion of gallbladder DOID:9714 ICD10CM:K82.1 ICD9CM:575.3 SNOMEDCT_US_2023_03_01:197421008 UMLS_CUI:C0152445 disease_ontology DOID:9717 hydrops of gallbladder DOID:9717 disease_ontology DOID:9718 obsolete meningococcal myocarditis true DOID:9718 A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5. MESH:D018630 MIM:193235 ORDO:329211 SNOMEDCT_US_2023_03_01:232016005 UMLS_CUI:C0242852 ADNIV Retinitis proliferans autosomal dominant neovascular inflammatory vitreoretinopathy proliferative vitreoretinopathy disease_ontology DOID:9719 neovascular inflammatory vitreoretinopathy DOID:9719 A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5. url:https://www.ncbi.nlm.nih.gov/pubmed/23055945 ADNIV disease_ontology DOID:972 obsolete malignant neoplasm of cerebrum except lobes and ventricles true DOID:972 An eye and adnexa disease that is located in the vitreous of the eye. ICD10CM:H43.39 ICD9CM:379.24 SNOMEDCT_US_2023_03_01:194154006 UMLS_CUI:C0029872 disease_ontology DOID:9720 vitreous disease DOID:9720 An eye and adnexa disease that is located in the vitreous of the eye. url:https://utswmed.org/conditions-treatments/vitreoretinal-diseases-and-surgery/ ICD10CM:H16.24 ICD9CM:360.14 SNOMEDCT_US_2023_03_01:12371008 UMLS_CUI:C0154775 disease_ontology DOID:9722 ophthalmia nodosa DOID:9722 A vitreous disease that is characterized by an abscess located_in the vitreous of the eye. ICD9CM:360.04 SNOMEDCT_US_2023_03_01:48142003 UMLS_CUI:C0042904 disease_ontology DOID:9723 vitreous abscess DOID:9723 A vitreous disease that is characterized by an abscess located_in the vitreous of the eye. url:https://link.springer.com/chapter/10.1007/978-1-4614-7082-3_93 ICD10CM:H44.0 ICD9CM:360.0 SNOMEDCT_US_2023_03_01:41720003 UMLS_CUI:C0259800 disease_ontology DOID:9724 purulent endophthalmitis DOID:9724 ICD10CM:H43.81 MESH:D020255 NCI:C50807 SNOMEDCT_US_2023_03_01:267747007 UMLS_CUI:C0042907 disease_ontology DOID:9726 vitreous detachment DOID:9726 disease_ontology DOID:9728 obsolete vitreous membranes and strands true DOID:9728 disease_ontology DOID:9729 obsolete crystalline deposits in vitreous true DOID:9729 An urogenital tuberculosis that results_in formation of granulomas located_in kidney. ICD9CM:016.0 MESH:D014398 NCI:C123020 SNOMEDCT_US_2023_03_01:44323002 UMLS_CUI:C0041328 Tuberculosis of kidney disease_ontology DOID:9733 renal tuberculosis DOID:9733 An urogenital tuberculosis that results_in formation of granulomas located_in kidney. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736345/ disease_ontology DOID:9734 obsolete urinary tuberculosis true DOID:9734 A blue drum syndrome caused by an allergen. ICD9CM:381.05 SNOMEDCT_US_2023_03_01:194242003 UMLS_CUI:C0155419 disease_ontology DOID:9735 acute allergic mucoid otitis media DOID:9735 A blue drum syndrome caused by an allergen. url:https://www.ncbi.nlm.nih.gov/pubmed/15301306 A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color. ICD9CM:381.02 SNOMEDCT_US_2023_03_01:52353000 UMLS_CUI:C0395863 acute mucoid otitis media disease_ontology DOID:9736 blue drum syndrome DOID:9736 A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color. url:http://books.google.com/books?id=6qIZei3Da-wC&pg=PA84&lpg#v=onepage&q=&f=false url:http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be caused by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation. ICD9CM:381.8 SNOMEDCT_US_2023_03_01:194277003 UMLS_CUI:C0155435 disease_ontology DOID:9739 eustachian tube disease DOID:9739 A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be caused by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation. url:http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false A respiratory system disease which involves the upper respiratory tract. ICD9CM:478.19 SNOMEDCT_US_2023_03_01:195823002 UMLS_CUI:C0029581 disease_ontology DOID:974 upper respiratory tract disease DOID:974 A respiratory system disease which involves the upper respiratory tract. url:http://en.wikipedia.org/wiki/Category:Upper_respiratory_tract_diseases url:http://www.who.int/topics/respiratory_tract_diseases/en/ A biliary tract disease characterized by the continuation or development of new gastrointestinal symptoms after cholecystectomy. ICD10CM:K91.5 ICD9CM:576.0 MESH:D017562 SNOMEDCT_US_2023_03_01:90782003 UMLS_CUI:C0152099 disease_ontology DOID:9740 postcholecystectomy syndrome DOID:9740 A biliary tract disease characterized by the continuation or development of new gastrointestinal symptoms after cholecystectomy. url:https://en.wikipedia.org/wiki/Postcholecystectomy_syndrome url:https://pubmed.ncbi.nlm.nih.gov/29730174/ url:https://www.ncbi.nlm.nih.gov/books/NBK539902/ A hepatobiliary disease that is located_in the biliary tract. ICD10CM:K83.9 ICD9CM:576.9 MESH:D001660 SNOMEDCT_US_2023_03_01:5235004 UMLS_CUI:C0005424 disease_ontology DOID:9741 biliary tract disease DOID:9741 A hepatobiliary disease that is located_in the biliary tract. url:https://my.clevelandclinic.org/departments/digestive/medical-professionals/hepatology/gallbladder-biliary-tract-disease A varicose veins that is located_in the pelvis. ICD10CM:I86.2 ICD9CM:456.5 SNOMEDCT_US_2023_03_01:17406005 UMLS_CUI:C0155795 disease_ontology DOID:9742 pelvic varices DOID:9742 A varicose veins that is located_in the pelvis. url:https://en.wikipedia.org/wiki/Varicose_veins ICD9CM:250.6 MESH:D003929 NCI:C26748 SNOMEDCT_US_2023_03_01:193182005 UMLS_CUI:C0011882 disease_ontology DOID:9743 diabetic neuropathy DOID:9743 A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production. GARD:10268 ICD10CM:E10 KEGG:04940 MESH:D003922 MIM:222100 NCI:C2986 SNOMEDCT_US_2023_03_01:46635009 UMLS_CUI:C0011854 IDDM insulin-dependent diabetes mellitus type I diabetes mellitus disease_ontology DOID:9744 Xref MGI. OMIM mapping confirmed by DO. [SN]. type 1 diabetes mellitus DOID:9744 A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production. url:http://en.wikipedia.org/wiki/Diabetes url:http://en.wikipedia.org/wiki/Diabetes_mellitus_type_1 IDDM ICD10CM:K64.5 ICD9CM:455.4 SNOMEDCT_US_2023_03_01:26373009 UMLS_CUI:C0155784 External thrombosed haemorrhoids Thrombosed external hemorrhoids disease_ontology DOID:9745 perianal hematoma DOID:9745 A pelvic varices that is characterized by swollen, inflamed veins around the anus or lower rectum. ICD10CM:K64 ICD9CM:455 MESH:D006484 NCI:C26792 SNOMEDCT_US_2023_03_01:70153002 UMLS_CUI:C0019112 hemorrhoidal disease disease_ontology DOID:9746 hemorrhoid DOID:9746 A pelvic varices that is characterized by swollen, inflamed veins around the anus or lower rectum. url:http://en.wikipedia.org/wiki/Hemorrhoid url:http://www.nlm.nih.gov/medlineplus/hemorrhoids.html url:https://www.ncbi.nlm.nih.gov/pubmed/19725283 A hemorrhoid that is located_in the rectum. ICD9CM:455.6 SNOMEDCT_US_2023_03_01:82985000 UMLS_CUI:C0041844 disease_ontology DOID:9749 internal hemorrhoid DOID:9749 A hemorrhoid that is located_in the rectum. url:https://www.mayoclinic.org/diseases-conditions/hemorrhoids/symptoms-causes/syc-20360268 Baker's Cyst disease_ontology DOID:9751 obsolete popliteal cyst true DOID:9751 disease_ontology DOID:9753 obsolete rupture of synovium true DOID:9753 ICD9CM:727.49 UMLS_CUI:C0158336 disease_ontology DOID:9754 ganglion or cyst of synovium/tendon/bursa DOID:9754 disease_ontology DOID:9761 obsolete arthropathy associated with dermatological disorder true DOID:9761 Cyanotic attacks of newborn disease_ontology DOID:9762 obsolete perinatal cyanotic attack true DOID:9762 calculus of gallbladder with cholecystitis (disorder) cholecystitis with Cholelithiasis disease_ontology DOID:9764 obsolete biliary calculus with cholecystitis true DOID:9764 A cholecystitis consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues, where gallbladder wall necrosis causes gas formation in the lumen or wall. MESH:D041882 NCI:C35592 SNOMEDCT_US_2023_03_01:95558008 UMLS_CUI:C0521610 Gaseous pericholecystitis disease_ontology DOID:9765 emphysematous cholecystitis DOID:9765 A cholecystitis consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues, where gallbladder wall necrosis causes gas formation in the lumen or wall. url:https://radiopaedia.org/articles/emphysematous-cholecystitis?lang=us url:https://www.merriam-webster.com/dictionary/emphysematous#medicalDictionary url:https://www.merriam-webster.com/medical/choleysistitis A cholecystitis characterized by nodules containing lipid-laden macrophages. GARD:9451 MESH:C536762 NCI:C35792 SNOMEDCT_US_2023_03_01:448286002 UMLS_CUI:C1337035 disease_ontology DOID:9766 xanthogranulomatous cholecystitis DOID:9766 A cholecystitis characterized by nodules containing lipid-laden macrophages. url:https://pubmed.ncbi.nlm.nih.gov/23991684/ url:https://pubmed.ncbi.nlm.nih.gov/26981227/ MESH:D017682 UMLS_CUI:C0206146 disease_ontology DOID:9767 myocardial stunning DOID:9767 ICD10CM:I25.3 MESH:D006322 SNOMEDCT_US_2023_03_01:155317009 UMLS_CUI:C0018789 cardiac aneurysm disease_ontology DOID:9768 heart aneurysm DOID:9768 disease_ontology DOID:9770 obsolete Retracted nipple associated with childbirth true DOID:9770 ICD10CM:P61.0 ICD9CM:776.1 SNOMEDCT_US_2023_03_01:23205009 UMLS_CUI:C0158991 disease_ontology DOID:9771 transient neonatal thrombocytopenia DOID:9771 disease_ontology DOID:9772 obsolete hematological disease of fetus and newborn true DOID:9772 A female breast cancer that is located_in the upper-outer quadrant of the breast. ICD10CM:C50.41 ICD9CM:174.4 SNOMEDCT_US_2023_03_01:188154003 UMLS_CUI:C0153552 disease_ontology DOID:9773 female breast upper-outer quadrant cancer DOID:9773 A female breast cancer that is located_in the upper-outer quadrant of the breast. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/ ICD10CM:I50.30 ICD9CM:428.3 MESH:D054144 SNOMEDCT_US_2023_03_01:418304008 UMLS_CUI:C1135196 disease_ontology DOID:9775 diastolic heart failure DOID:9775 ICD9CM:363.41 SNOMEDCT_US_2023_03_01:38513001 UMLS_CUI:C0154891 disease_ontology DOID:9776 Senile atrophy of choroid DOID:9776 An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. ICD10CM:K58 ICD9CM:564.1 KEGG:05321 MESH:D043183 NCI:C82343 SNOMEDCT_US_2023_03_01:155783000 UMLS_CUI:C0022104 IBD Irritable colon disease_ontology Psychogenic IBS DOID:9778 irritable bowel syndrome DOID:9778 An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. url:http://en.wikipedia.org/wiki/Irritable_bowel_syndrome url:https://www.niddk.nih.gov/health-information/digestive-diseases/irritable-bowel-syndrome IBD ICD10CM:K59.9 ICD9CM:564.9 SNOMEDCT_US_2023_03_01:81120009 UMLS_CUI:C0016807 disease_ontology DOID:9779 bowel dysfunction DOID:9779 A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur. ICD10CM:B75 ICD9CM:124 MESH:D014235 NCI:C85199 SNOMEDCT_US_2023_03_01:709018004 UMLS_CUI:C0040896 Trichinella spiralis infection disease_ontology DOID:9784 trichinosis DOID:9784 A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur. url:http://www.dpd.cdc.gov/dpdx/HTML/Trichinellosis.htm A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty speaking, has symptom difficulty swallowing, and has symptom difficulty chewing. ICD9CM:045.0 MESH:D011052 SNOMEDCT_US_2023_03_01:64764001 UMLS_CUI:C0032372 bulbar poliomyelitis disease_ontology DOID:9786 bulbar polio DOID:9786 A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty speaking, has symptom difficulty swallowing, and has symptom difficulty chewing. url:http://en.wikipedia.org/wiki/Poliomyelitis disease_ontology DOID:9787 obsolete Foreign body granuloma of muscle true DOID:9787 ICD10CM:M60.1 ICD9CM:728.81 NCI:C26985 SNOMEDCT_US_2023_03_01:55925001 UMLS_CUI:C0158362 Interstitial myositis disease_ontology DOID:9788 myositis fibrosa DOID:9788 ICD9CM:363.43 SNOMEDCT_US_2023_03_01:86103006 UMLS_CUI:C0002983 disease_ontology DOID:979 angioid streaks of choroid DOID:979 A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions. DOID:9791 GARD:7788 ICD10CM:B83.0 MESH:D007816 NCI:C34758 SNOMEDCT_US_2023_03_01:87121004 UMLS_CUI:C0023049 Infection by Toxascaris Toxocara infection visceral larva migrans disease_ontology DOID:9790 toxocariasis DOID:9790 A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions. url:http://www.dpd.cdc.gov/dpdx/HTML/Toxocariasis.htm ICD10CM:H31.2 ICD9CM:363.5 SNOMEDCT_US_2023_03_01:74469006 UMLS_CUI:C0154893 disease_ontology DOID:9794 hereditary choroidal atrophy DOID:9794 DOID:9793 meningeal tuberculosis tuberculoma of meninges disease_ontology DOID:9795 obsolete tuberculous meningitis true DOID:9795 ICD10CM:H44.5 ICD9CM:360.4 SNOMEDCT_US_2023_03_01:62585004 UMLS_CUI:C0154777 disease_ontology DOID:9799 eye degenerative disease DOID:9799 disease_ontology DOID:98 obsolete staphylococcal infectious disease true DOID:98 ICD10CM:H31.10 ICD9CM:363.4 MESH:C535358 MIM:215500 SNOMEDCT_US_2023_03_01:47638000 UMLS_CUI:C0344297 Choroidal degenerations disease_ontology DOID:980 OMIM mapping confirmed by DO. [SN]. choroidal sclerosis DOID:980 A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation. ICD10CM:A18.31 ICD9CM:014.0 MESH:D014395 SNOMEDCT_US_2023_03_01:197170002 UMLS_CUI:C0041325 disease_ontology DOID:9801 tuberculous peritonitis DOID:9801 A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation. url:http://books.google.com/books?id=130IVak1eCwC&pg=PA695&lpg=PA695&dq#v=onepage&q=&f=false A pneumococcal infectious disease that involves inflammation of the peritoneum caused by streptococcal infection. The symptoms include diarrhea, fever, fasciitis and influenza-like syndrome. disease_ontology DOID:9804 obsolete pneumococcal peritonitis true DOID:9804 A pneumococcal infectious disease that involves inflammation of the peritoneum caused by streptococcal infection. The symptoms include diarrhea, fever, fasciitis and influenza-like syndrome. url:http://www.ncbi.nlm.nih.gov/sites/entrez/20013929 disease_ontology DOID:9805 obsolete pneumococcal infectious disease true DOID:9805 An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure. DOID:9812 GARD:2551 ICD10CM:M31.0 ICD9CM:446.21 MESH:D019867 MIM:233450 NCI:C84566 SNOMEDCT_US_2023_03_01:788613004 UMLS_CUI:C0403529 anti-GBM disease anti-glomerular basement membrane disease disease_ontology DOID:9808 OMIM mapping confirmed by DO. [SN]. Goodpasture syndrome DOID:9808 An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure. url:http://en.wikipedia.org/wiki/Goodpasteure%27s_syndrome A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers. GARD:7851 ICD10CM:M31.0 ICD9CM:446.2 MESH:D018366 NCI:C35119 SNOMEDCT_US_2023_03_01:195350001 UMLS_CUI:C0151436 disease_ontology DOID:9809 hypersensitivity vasculitis DOID:9809 A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers. url:https://rarediseases.info.nih.gov/diseases/7851/hypersensitivity-vasculitis ICD10CM:H31.12 ICD9CM:363.42 SNOMEDCT_US_2023_03_01:193463006 UMLS_CUI:C0154892 disease_ontology DOID:981 diffuse secondary choroid atrophy DOID:981 A vasculitis that is characterized by necrotizing inflammation of medium or small arteries. GARD:7360 ICD10CM:M30.0 ICD9CM:446.0 MESH:D010488 NCI:C26847 SNOMEDCT_US_2023_03_01:195347004 UMLS_CUI:C0031036 disease_ontology DOID:9810 polyarteritis nodosa DOID:9810 A vasculitis that is characterized by necrotizing inflammation of medium or small arteries. url:https://en.wikipedia.org/wiki/Polyarteritis_nodosa url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4029362/ ICD9CM:363.51 SNOMEDCT_US_2023_03_01:193466003 UMLS_CUI:C0154895 disease_ontology DOID:9811 partial circumpapillary choroid dystrophy DOID:9811 disease_ontology DOID:9815 obsolete Recent retinal detachment, total or subtotal true DOID:9815 disease_ontology DOID:9816 obsolete partial recent retinal detachment with giant tear true DOID:9816 DOID:12513 DOID:12515 DOID:9817 DOID:9826 disease_ontology DOID:9818 obsolete retinal defect true DOID:9818 disease_ontology DOID:9819 obsolete delimited old retinal detachment true DOID:9819 disease_ontology DOID:982 obsolete disorganized type schizophrenia subchronic state with acute exacerbation true DOID:982 ICD9CM:363.54 SNOMEDCT_US_2023_03_01:392049002 UMLS_CUI:C0154898 Choroidal dystrophy, serpiginous disease_ontology DOID:9820 central gyrate choroidal dystrophy DOID:9820 GARD:6061 ICD10CM:H31.21 ICD9CM:363.55 MESH:D015794 MIM:303100 NCI:C34469 ORDO:180 SNOMEDCT_US_2023_03_01:75241009 UMLS_CUI:C0008525 progressive Choroidal Atrophy disease_ontology DOID:9821 OMIM mapping confirmed by DO. [SN]. choroideremia MESH:D015794 DOID:9821 ICD9CM:363.53 MIM:613105 SNOMEDCT_US_2023_03_01:193468002 UMLS_CUI:C0339427 Choroidal dystrophy, central areolar disease_ontology DOID:9822 OMIM mapping confirmed by DO. [SN]. partial central choroid dystrophy DOID:9822 disease_ontology DOID:9823 obsolete Partial recent retinal detachment with retinal dialysis true DOID:9823 disease_ontology DOID:9824 obsolete total or subtotal old retinal detachment true DOID:9824 ICD10CM:Q74.0 ICD9CM:755.53 MESH:C562408 MIM:179300 SNOMEDCT_US_2023_03_01:33313004 UMLS_CUI:C0158761 disease_ontology DOID:9827 OMIM mapping confirmed by DO. [SN]. radioulnar synostosis DOID:9827 A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment. DOID:6679 ICD10CM:P96.1 ICD9CM:779.5 MESH:D009357 NCI:C35808 NCI:C87101 SNOMEDCT_US_2023_03_01:414819007 UMLS_CUI:C0027609 UMLS_CUI:C1332133 Drug withdrawal syndrome in newborn disease_ontology DOID:9828 neonatal abstinence syndrome DOID:9828 A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment. url:http://en.wikipedia.org/wiki/Neonatal_abstinence_syndrome disease_ontology DOID:9829 obsolete drug abstinence syndrome or symptom true DOID:9829 A refractive error that is characterized by rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. ICD10CM:H52.0 ICD9CM:367.0 MESH:D006956 SNOMEDCT_US_2023_03_01:38101003 UMLS_CUI:C0020490 Far-sightedness farsightedness hypermetropia disease_ontology DOID:9834 hyperopia DOID:9834 A refractive error that is characterized by rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. url:https://www.mayoclinic.org/diseases-conditions/farsightedness/symptoms-causes/syc-20372495 ICD10CM:H52.7 MESH:D012030 NCI:C87145 SNOMEDCT_US_2023_03_01:39021009 UMLS_CUI:C0034951 disease_ontology DOID:9835 refractive error DOID:9835 disease_ontology DOID:9836 obsolete refraction or accommodation disorder true DOID:9836 ICD10CM:H50.2 ICD9CM:378.31 MESH:D013285 NCI:C34716 SNOMEDCT_US_2023_03_01:40608009 UMLS_CUI:C0020575 disease_ontology DOID:9837 hypertropia DOID:9837 ICD10CM:H50.41 ICD9CM:378.33 MESH:C000721272 SNOMEDCT_US_2023_03_01:70486007 UMLS_CUI:C0152209 disease_ontology DOID:9838 cyclotropia DOID:9838 ICD10CM:H50.43 ICD9CM:378.35 SNOMEDCT_US_2023_03_01:194112008 UMLS_CUI:C0155336 disease_ontology DOID:9839 accommodative esotropia DOID:9839 DOID:983 Costen's syndrome Myofascial pain - dysfunction syndrome of TMJ TMJ SYNDROME TMJ-pain-dysfunction syndrome temporomandibular dysfunction syndrome temporomandibular joint dysfunction syndrome disease_ontology DOID:984 obsolete temporomandibular joint disorder true DOID:984 A strabismus that is characterized the eye which turns inward toward the nose. GARD:8235 ICD10CM:H50.0 ICD9CM:378.0 MESH:D004948 NCI:C34596 SNOMEDCT_US_2023_03_01:155193001 UMLS_CUI:C0014877 Convergence in manifest squint Internal Strabismus crossed eyes disease_ontology DOID:9840 esotropia DOID:9840 A strabismus that is characterized the eye which turns inward toward the nose. url:https://www.merriam-webster.com/dictionary/cross-eye#medicalDictionary ICD9CM:378.32 NCI:C42086 SNOMEDCT_US_2023_03_01:29491004 UMLS_CUI:C0152208 disease_ontology DOID:9841 hypotropia DOID:9841 ICD9CM:363.52 SNOMEDCT_US_2023_03_01:59753003 UMLS_CUI:C0154896 Circumpapillary dystrophy of choroid, total disease_ontology DOID:9842 total circumpapillary dystrophy of choroid DOID:9842 ICD10CM:H50.42 ICD9CM:378.34 SNOMEDCT_US_2023_03_01:14785004 UMLS_CUI:C0339611 disease_ontology DOID:9843 monofixation syndrome DOID:9843 A vestibular disease that is characterized by a sensation of motion or spinning that is often described as dizziness due to a problem in the part of the inner ear that controls balance. ICD10CM:H81.399 ICD9CM:386.19 SNOMEDCT_US_2023_03_01:194359006 UMLS_CUI:C0029706 disease_ontology DOID:9847 peripheral vertigo DOID:9847 A vestibular disease that is characterized by a sensation of motion or spinning that is often described as dizziness due to a problem in the part of the inner ear that controls balance. url:https://medlineplus.gov/ency/article/001432.htm ICD10CM:H81.0 MESH:D018159 SNOMEDCT_US_2023_03_01:194346003 UMLS_CUI:C0206586 labyrinthine hydrops disease_ontology DOID:9848 endolymphatic hydrops DOID:9848 A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss. GARD:10340 ICD10CM:H81.0 ICD9CM:386.0 MESH:D008575 MIM:156000 NCI:C185243 SNOMEDCT_US_2023_03_01:194346003 UMLS_CUI:C0025281 Meniere disease Mnire's vertigo Otogenic vertigo disease_ontology DOID:9849 OMIM mapping confirmed by DO. [SN]. Meniere's disease DOID:9849 A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss. url:http://en.wikipedia.org/wiki/M%C3%A9ni%C3%A8re%27s_disease disease_ontology DOID:985 obsolete disorganized type schizophrenia subchronic state true DOID:985 ICD10CM:G24.4 ICD9CM:333.82 MESH:D020820 SNOMEDCT_US_2023_03_01:267689009 UMLS_CUI:C0152115 Oro-facial dyskinesia disease_ontology DOID:9854 lingual-facial-buccal dyskinesia DOID:9854 disease_ontology DOID:9855 obsolete syphilitic interstitial keratitis true DOID:9855 A syphilis that results_in a multisystem infection in the fetus via the placenta. ICD10CM:A50 ICD9CM:090 MESH:D013590 NCI:C84649 SNOMEDCT_US_2023_03_01:154380005 UMLS_CUI:C0039131 disease_ontology DOID:9856 congenital syphilis DOID:9856 A syphilis that results_in a multisystem infection in the fetus via the placenta. url:http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html A connective tissue disease characterized by corneal scarring that develops from non-suppurative inflammation located_in the corneal stroma, has_symptom visual acuity loss, has_symptom pain, and has_symptom lacrimation. ICD10CM:H16.30 ICD9CM:370.50 SNOMEDCT_US_2023_03_01:1763009 UMLS_CUI:C0155088 disease_ontology DOID:9857 interstitial keratitis DOID:9857 A connective tissue disease characterized by corneal scarring that develops from non-suppurative inflammation located_in the corneal stroma, has_symptom visual acuity loss, has_symptom pain, and has_symptom lacrimation. url:https://en.wikipedia.org/wiki/Interstitial_keratitis ICD10CM:H16.3 ICD9CM:370.5 SNOMEDCT_US_2023_03_01:193783008 UMLS_CUI:C0155087 disease_ontology DOID:9858 deep keratitis DOID:9858 An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. EFO:0004192 GARD:5782 ICD10CM:L63 ICD9CM:704.01 MESH:D000506 MIM:104000 MIM:610753 SNOMEDCT_US_2023_03_01:201131001 UMLS_CUI:C0002171 Circumscribed alopecia disease_ontology DOID:986 alopecia areata MESH:D000506 DOID:986 An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. url:http://en.wikipedia.org/wiki/Alopecia_areata ls:IEDB An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs. DOID:9862 ICD10CM:A19 ICD9CM:018 MESH:D014391 NCI:C35086 SNOMEDCT_US_2023_03_01:154291001 UMLS_CUI:C0041321 Disseminated tuberculosis Tuberculosis miliaris disseminata acute miliary tuberculosis generalized tuberculosis disease_ontology DOID:9861 miliary tuberculosis DOID:9861 An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs. url:http://en.wikipedia.org/wiki/Disseminated_tuberculosis disease_ontology DOID:9866 obsolete lactation disorder true DOID:9866 ICD10CM:H35.38 ICD9CM:362.55 SNOMEDCT_US_2023_03_01:193389005 UMLS_CUI:C0271086 Toxic maculopathy of retina disease_ontology DOID:9867 toxic maculopathy DOID:9867 ICD9CM:271.3 NCI:C34731 UMLS_CUI:C0021830 disease_ontology DOID:9868 intestinal disaccharidase deficiency DOID:9868 A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31. ICD10CM:E74.12 ICD9CM:271.2 MESH:D005633 MIM:229600 NCI:C84720 SNOMEDCT_US_2023_03_01:20290005 UMLS_CUI:C0016751 Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia disease_ontology DOID:9869 hereditary fructose intolerance syndrome DOID:9869 A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31. url:https://pubmed.ncbi.nlm.nih.gov/20848650/ url:https://pubmed.ncbi.nlm.nih.gov/9610797/ A hypotrichosis that is characterized by a loss of hair from the head or body. ICD10CM:L65.9 ICD9CM:704.0 MESH:D000505 MIM:PS203655 NCI:C50575 SNOMEDCT_US_2023_03_01:270504008 UMLS_CUI:C0002170 disease_ontology DOID:987 alopecia MESH:D000505 DOID:987 A hypotrichosis that is characterized by a loss of hair from the head or body. url:http://en.wikipedia.org/wiki/Alopecia url:http://www.omim.org/entry/109200?search=109200&highlight=109200 A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. GARD:2424 ICD10CM:E74.21 ICD9CM:271.1 MESH:D005693 NCI:C84723 SNOMEDCT_US_2023_03_01:38177000 UMLS_CUI:C0016952 Galactosaemia Galactose intolerance disease_ontology DOID:9870 OMIM mapping by NeuroDevNet. [LS]. galactosemia DOID:9870 A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. url:http://en.wikipedia.org/wiki/Galactosemia ICD10CM:N34.0 ICD9CM:597.0 SNOMEDCT_US_2023_03_01:197899005 UMLS_CUI:C0156278 disease_ontology DOID:9877 urethral gland abscess DOID:9877 DOID:13418 antepartum late vomiting of pregnancy disease_ontology DOID:9878 obsolete Excessive vomiting starting after 22 completed weeks of gestation true DOID:9878 A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. MESH:D008945 MIM:157700 MIM:607829 MIM:610840 NCI:C50655 SNOMEDCT_US_2023_03_01:8074002 UMLS_CUI:C0026267 Barlow's syndrome floppy mitral valve disease_ontology mitral leaflet syndrome myxomatous mitral valve prolapse systolic click-murmur syndrome DOID:988 Xref MGI. OMIM mapping confirmed by DO. [SN]. mitral valve prolapse DOID:988 A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. url:http://en.wikipedia.org/wiki/Mitral_valve_prolapse url:http://ghr.nlm.nih.gov/glossary=mitralvalveprolapse url:http://www.merckmanuals.com/professional/cardiovascular_disorders/valvular_disorders/mitral_valve_prolapse_mvp.html url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/564/viewAbstract A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. ICD9CM:093.8 SNOMEDCT_US_2023_03_01:111823001 UMLS_CUI:C0029751 disease_ontology DOID:9880 cardiovascular syphilis DOID:9880 A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis_in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21. GARD:5900 MIM:300376 ORDO:98895 SNOMEDCT_US_2023_03_01:111501005 UMLS_CUI:C0699741 Benign pseudohypertrophic muscular dystrophy benign congenital myopathy disease_ontology DOID:9883 OMIM mapping confirmed by DO. [SN]. Becker muscular dystrophy DOID:9883 A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis_in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21. url:https://www.ncbi.nlm.nih.gov/pubmed/19461958 url:https://www.omim.org/entry/300376 A myopathy is characterized by progressive skeletal muscle weakness degeneration. GARD:7922 ICD10CM:G71.0 MESH:D009136 MIM:158800 MIM:159050 MIM:309930 MIM:309950 MIM:310000 MIM:310095 MIM:600416 NCI:C84910 SNOMEDCT_US_2023_03_01:155095006 UMLS_CUI:C0026850 disease_ontology DOID:9884 muscular dystrophy DOID:9884 A myopathy is characterized by progressive skeletal muscle weakness degeneration. url:http://en.wikipedia.org/wiki/Muscular_dystrophy url:http://www.ninds.nih.gov/disorders/md/md.htm ICD10CM:H50.05 ICD9CM:378.05 SNOMEDCT_US_2023_03_01:194080005 UMLS_CUI:C0152205 disease_ontology DOID:9888 alternating esotropia DOID:9888 disease_ontology DOID:9889 obsolete alternating esotropia with A pattern true DOID:9889 disease_ontology DOID:9890 obsolete intermittent alternating esotropia true DOID:9890 disease_ontology DOID:9891 obsolete alternating esotropia with V pattern true DOID:9891 ICD10CM:I77.4 ICD9CM:447.4 MESH:D000074742 SNOMEDCT_US_2023_03_01:9250002 UMLS_CUI:C1861783 Celiac artery compression syndrome Harjola-Marable syndrome Marable's syndrome disease_ontology DOID:9892 median arcuate ligament syndrome MESH:D000074742 DOID:9892 ICD10CM:K05.4 ICD9CM:523.5 MESH:D010520 UMLS_CUI:C0600298 disease_ontology DOID:9893 periodontosis DOID:9893 DOID:10635 DOID:10636 DOID:10637 DOID:10638 DOID:10639 DOID:10640 DOID:10641 DOID:9897 ICD10CM:M12.20 ICD9CM:719.2 SNOMEDCT_US_2023_03_01:34671005 UMLS_CUI:C0158168 disease_ontology DOID:9898 villonodular synovitis DOID:9898 disease_ontology DOID:9899 obsolete glaucoma associated with tumors or cysts true DOID:9899 An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life. GARD:6164 ICD10CM:Q24.6 ICD9CM:746.86 MESH:C535758 MIM:234700 SNOMEDCT_US_2023_03_01:156924006 UMLS_CUI:C0149530 disease_ontology DOID:990 OMIM mapping confirmed by DO. [SN]. congenital heart block DOID:990 An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life. url:https://www.ncbi.nlm.nih.gov/pubmed/22368629 Psychogenic paranoid psychosis disease_ontology DOID:9900 obsolete protracted reactive paranoid psychosis true DOID:9900 A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid. ICD10CM:H00.1 ICD9CM:373.2 MESH:D017043 NCI:C26717 SNOMEDCT_US_2023_03_01:155172004 UMLS_CUI:C0007933 Chalazion meibomian gland lipogranuloma disease_ontology DOID:9903 meibomian cyst DOID:9903 A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid. url:http://en.wikipedia.org/wiki/Chalazion ICD10CM:L65.2 MESH:D000507 NCI:C82859 SNOMEDCT_US_2023_03_01:201150001 UMLS_CUI:C0002173 Alopecia mucinosa disease_ontology DOID:9905 follicular mucinosis DOID:9905 ICD10CM:H00.02 ICD9CM:373.12 SNOMEDCT_US_2023_03_01:397514009 UMLS_CUI:C0085690 disease_ontology DOID:9908 internal hordeolum DOID:9908 An eyelid disease that is characterized by an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection. ICD10CM:H00.01 MESH:D006726 NCI:C118722 SNOMEDCT_US_2023_03_01:74612003 UMLS_CUI:C0019917 Boil of eyelid Furuncle of eyelid Hordeolum externum Stye disease_ontology DOID:9909 hordeolum DOID:9909 An eyelid disease that is characterized by an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection. url:http://en.wikipedia.org/wiki/Hordeolum A corneal ulcer that is characterized by ulceration and opacification of the central cornea and is caused by minor trauma and subsequent infection by bacterial or mycotic organisms. ICD10CM:H16.01 ICD9CM:370.03 SNOMEDCT_US_2023_03_01:193761009 UMLS_CUI:C0155069 disease_ontology DOID:9910 central corneal ulcer DOID:9910 A corneal ulcer that is characterized by ulceration and opacification of the central cornea and is caused by minor trauma and subsequent infection by bacterial or mycotic organisms. url:https://en.wikipedia.org/wiki/Corneal_ulcer ICD10CM:N43.1 ICD9CM:603.1 SNOMEDCT_US_2023_03_01:11666007 UMLS_CUI:C0156300 disease_ontology DOID:9911 infected hydrocele DOID:9911 disease_ontology DOID:9912 hydrocele DOID:9912 metastatic malignant tumor to the Axilla disease_ontology DOID:9913 obsolete axillary metastasis true DOID:9913 Ca ribs/sternum/clavicle disease_ontology DOID:9915 obsolete malignant neoplasm of ribs, sternum and clavicle true DOID:9915 disease_ontology DOID:9916 obsolete secondary malignant neoplasm to the chest wall true DOID:9916 disease_ontology DOID:9919 obsolete malignant neoplasm of thoracic esophagus true DOID:9919 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus (Orthoflavivirus omskense), which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum. GARD:8254 ICD10CM:A98.1 ICD9CM:065.1 MESH:D006481 SNOMEDCT_US_2023_03_01:48113006 UMLS_CUI:C0019103 disease_ontology DOID:992 Omsk hemorrhagic fever DOID:992 A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus (Orthoflavivirus omskense), which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum. url:http://www.phac-aspc.gc.ca/msds-ftss/msds113e-eng.php url:https://en.wikipedia.org/wiki/Omsk_hemorrhagic_fever url:https://www.cdc.gov/omsk-fever/about/ A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired. ICD10CM:F82 ICD9CM:315.4 MESH:D019957 NCI:C92561 SNOMEDCT_US_2023_03_01:27544004 UMLS_CUI:C0011757 disease_ontology DOID:9923 developmental coordination disorder DOID:9923 A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired. url:http://www.nlm.nih.gov/medlineplus/ency/article/001533.htm disease_ontology DOID:9925 obsolete hyperostosis frontalis interna true DOID:9925 disease_ontology DOID:9929 obsolete meningococcal meningitis true DOID:9929 A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Flavivirus, which causes encephalitis or hemorrhagic fever in humans and transmitted_by arthropod vectors or transmitted_by contact with infected animal carcasses. disease_ontology DOID:993 obsolete Flavivirus infectious disease true DOID:993 A viral infectious disease that results_in infection in animals and humans, has_material_basis_in Flavivirus, which causes encephalitis or hemorrhagic fever in humans and transmitted_by arthropod vectors or transmitted_by contact with infected animal carcasses. url:http://en.wikipedia.org/wiki/Flavivirus disease_ontology DOID:9930 obsolete primary Neisseriaceae infectious disease true DOID:9930 An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland. DOID:12613 GARD:9449 MESH:D014884 NCI:C85225 SNOMEDCT_US_2023_03_01:267484005 UMLS_CUI:C0043068 Meningococcal hemorrhagic adrenalitis disease_ontology DOID:9931 Waterhouse-Friderichsen syndrome DOID:9931 An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland. url:http://en.wikipedia.org/wiki/Waterhouse-Friderichsen_syndrome url:https://www.merriam-webster.com/medical/waterhouse A lacrimal apparatus disease that is characterized by longstanding inflammation of the lacrimal passage, and has_symptom pain, increased or decreased tearing, and swelling between the eye and nose. ICD10CM:H04.4 ICD9CM:375.4 SNOMEDCT_US_2023_03_01:193990009 UMLS_CUI:C0155239 disease_ontology DOID:9935 chronic inflammation of lacrimal passage DOID:9935 A lacrimal apparatus disease that is characterized by longstanding inflammation of the lacrimal passage, and has_symptom pain, increased or decreased tearing, and swelling between the eye and nose. url:https://www.ncbi.nlm.nih.gov/pubmed/6856241 ICD10CM:H04.42 ICD9CM:375.41 SNOMEDCT_US_2023_03_01:26479009 UMLS_CUI:C0155240 disease_ontology DOID:9936 chronic canaliculitis DOID:9936 ICD10CM:H04.41 ICD9CM:375.42 SNOMEDCT_US_2023_03_01:193990009 UMLS_CUI:C0149506 disease_ontology DOID:9937 chronic dacryocystitis DOID:9937 An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge. ICD10CM:H04.30 ICD9CM:375.30 MESH:D003607 NCI:C34521 SNOMEDCT_US_2023_03_01:267738004 UMLS_CUI:C0010930 disease_ontology DOID:9938 dacryocystitis DOID:9938 An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923200/ ICD9CM:375.43 NCI:C98968 SNOMEDCT_US_2023_03_01:42758002 UMLS_CUI:C0155241 lacrimal mucocele disease_ontology DOID:9939 dacryocystocele DOID:9939 disease_ontology DOID:9940 obsolete Congenital or acquired abnormality of vulva complicating pregnancy, childbirth, or the puerperium true DOID:9940 NCI:C35346 SNOMEDCT_US_2023_03_01:76616003 UMLS_CUI:C0272394 disease_ontology DOID:9942 lymph node disease DOID:9942 disease_ontology DOID:9943 obsolete syphilitic episcleritis true DOID:9943 ICD10CM:H05.24 ICD9CM:376.31 SNOMEDCT_US_2023_03_01:194015008 UMLS_CUI:C0155267 disease_ontology DOID:9945 constant exophthalmos DOID:9945 A glaucoma characterized by elevated intraocular pressure secondary to chronic corticosteroid use, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Steroid-induced glaucoma is caused by chronic corticosteroid use. ICD9CM:365.3 SNOMEDCT_US_2023_03_01:1654001 UMLS_CUI:C0339578 Corticosteroid-induced glaucoma disease_ontology DOID:9946 steroid-induced glaucoma DOID:9946 A glaucoma characterized by elevated intraocular pressure secondary to chronic corticosteroid use, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Steroid-induced glaucoma is caused by chronic corticosteroid use. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577123/ ICD9CM:365.32 SNOMEDCT_US_2023_03_01:193549003 UMLS_CUI:C0339580 disease_ontology DOID:9948 residual stage corticosteroid-induced glaucoma DOID:9948 A acute leukemia that is characterized by over production of lymphoblasts. DOID:5600 EFO:0000220 GARD:522 ICD10CM:C91.00 ICD9CM:204.0 MIM:247640 MIM:613065 NCI:C3167 NCI:C7055 ORDO:513 SNOMEDCT_US_2023_03_01:128822004 UMLS_CUI:C0023449 UMLS_CUI:C1335469 ALL acute lymphoblastic leukaemia acute lymphocytic leukaemia precursor lymphoblastic lymphoma/leukemia disease_ontology DOID:9952 Xref MGI. acute lymphoblastic leukemia DOID:9952 A acute leukemia that is characterized by over production of lymphoblasts. url:http://www.cancer.gov/dictionary?CdrID=46332 ALL An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. ICD10CM:C95.0 ICDO:9805/3 MESH:D015456 NCI:C4673 SNOMEDCT_US_2023_03_01:128818009 UMLS_CUI:C0023464 mixed phenotype acute leukemia disease_ontology DOID:9953 acute biphenotypic leukemia DOID:9953 An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. url:https://www.ncbi.nlm.nih.gov/pubmed/29021517 SNOMEDCT_US_2023_03_01:277574007 UMLS_CUI:C0023483 Null cell acute lymphoblastic leukaemia Null cell acute lymphoblastic leukemia null-cell leukaemia disease_ontology DOID:9954 null-cell leukemia DOID:9954 A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. GARD:6739 ICD10CM:Q23.4 ICD9CM:746.7 MESH:D018636 MIM:241550 MIM:614435 NCI:C98894 ORDO:2248 SNOMEDCT_US_2023_03_01:62067003 UMLS_CUI:C0152101 disease_ontology DOID:9955 Xref MGI. OMIM mapping confirmed by DO. [SN]. hypoplastic left heart syndrome DOID:9955 A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. url:http://en.wikipedia.org/wiki/Hypoplastic_left_heart_syndrome url:http://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/hypoplastic_left_heart_syndrome.html A connective tissue disease characterized by inflammation located_in the periosteum of the bone. DOID:10894 DOID:14496 DOID:9956 MESH:D010522 SNOMEDCT_US_2023_03_01:41910004 UMLS_CUI:C0031111 disease_ontology DOID:9957 periostitis DOID:9957 A connective tissue disease characterized by inflammation located_in the periosteum of the bone. url:https://en.wikipedia.org/wiki/Periostitis A uterine disease that is characterized by the presence of blood in the uterine cavity. ICD10CM:N85.7 ICD9CM:621.4 MESH:D006409 SNOMEDCT_US_2023_03_01:38280009 UMLS_CUI:C0018948 Hematometra disease_ontology DOID:9958 hemometra DOID:9958 A uterine disease that is characterized by the presence of blood in the uterine cavity. url:https://en.wikipedia.org/wiki/Hematometra A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia. DOID:13334 DOID:13339 DOID:13344 ICD10CM:B58 ICD9CM:130 MESH:D014123 NCI:C3418 SNOMEDCT_US_2023_03_01:266225001 UMLS_CUI:C0040558 disseminated toxoplasmosis disease_ontology DOID:9965 toxoplasmosis DOID:9965 A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia. url:http://en.wikipedia.org/wiki/Toxoplasmosis An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood. ICD10CM:E67.1 ICD9CM:278.3 MIM:115300 NCI:C26963 SNOMEDCT_US_2023_03_01:35487009 UMLS_CUI:C0154271 hypercarotinemia disease_ontology DOID:9969 carotenemia DOID:9969 An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood. url:https://www.ncbi.nlm.nih.gov/books/NBK534878/ A uterine disease that is characterized by the uterine cavity turning inside out as a complication of childbirth. ICD10CM:N85.5 ICD9CM:665.2 MESH:D019687 SNOMEDCT_US_2023_03_01:156233003 UMLS_CUI:C0162482 disease_ontology DOID:997 uterine inversion MESH:D019687 DOID:997 A uterine disease that is characterized by the uterine cavity turning inside out as a complication of childbirth. url:https://en.wikipedia.org/wiki/Uterine_inversion An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. EFO:0001073 ICD10CM:E66.9 ICD9CM:278.00 MESH:D009765 MIM:601665 NCI:C159658 SNOMEDCT_US_2023_03_01:5476005 UMLS_CUI:C0028754 disease_ontology DOID:9970 OMIM mapping confirmed by DO. [SN]. obesity DOID:9970 An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. url:https://en.wikipedia.org/wiki/Obesity An overnutrition that is characterized by elevated vitamin D, which can subsequently cause high levels of calcium, has_symptom myalgia, fatigue, irritability, nausea, dehydration, polyuria, and nephrocalcinosis, and possibly has_material_basis_in excess intake of vitamin D. ICD10CM:E67.3 ICD9CM:278.4 SNOMEDCT_US_2023_03_01:190969000 UMLS_CUI:C1442839 disease_ontology DOID:9971 hypervitaminosis D DOID:9971 An overnutrition that is characterized by elevated vitamin D, which can subsequently cause high levels of calcium, has_symptom myalgia, fatigue, irritability, nausea, dehydration, polyuria, and nephrocalcinosis, and possibly has_material_basis_in excess intake of vitamin D. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3191699/ An overnutrition that is characterized by excess vitamin A, has_symptom hepatomegaly, anorexia, fever, alopecia, and arthralgia, and has_material_basis_in excessive intake of vitaimin A, and/or derangement of vitamin A metabolism. ICD10CM:E67.0 ICD9CM:278.2 MESH:D006986 SNOMEDCT_US_2023_03_01:64559002 UMLS_CUI:C0020579 disease_ontology DOID:9972 hypervitaminosis A DOID:9972 An overnutrition that is characterized by excess vitamin A, has_symptom hepatomegaly, anorexia, fever, alopecia, and arthralgia, and has_material_basis_in excessive intake of vitaimin A, and/or derangement of vitamin A metabolism. url:https://jamanetwork.com/journals/jamapediatrics/article-abstract/1181005 url:https://medlineplus.gov/ency/article/000350.htm A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance. NCI:C35458 SNOMEDCT_US_2023_03_01:255338002 UMLS_CUI:C0439857 disease_ontology DOID:9973 substance dependence DOID:9973 A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Drug_dependence A substance dependence that involves the continued use of drugs despite problems related to use of the substance. ICD9CM:304.60 SNOMEDCT_US_2023_03_01:191860009 UMLS_CUI:C0029792 disease_ontology DOID:9974 drug dependence DOID:9974 A substance dependence that involves the continued use of drugs despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Drug_dependence A drug dependence that is a psychological dependency on the regular use of cocaine. ICD10CM:F14.2 ICD9CM:304.2 MESH:D019970 NCI:C34492 SNOMEDCT_US_2023_03_01:286934009 UMLS_CUI:C0600427 disease_ontology DOID:9975 cocaine dependence DOID:9975 A drug dependence that is a psychological dependency on the regular use of cocaine. url:http://en.wikipedia.org/wiki/Cocaine_dependence An opiate dependence that involves the continued use of heroin despite problems related to use of the substance. MESH:D006556 NCI:C34694 SNOMEDCT_US_2023_03_01:191817000 UMLS_CUI:C0019337 disease_ontology DOID:9976 heroin dependence DOID:9976 An opiate dependence that involves the continued use of heroin despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Opioid_dependence A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance. ICD10CM:F16.2 ICD9CM:304.5 NCI:C34657 SNOMEDCT_US_2023_03_01:191847003 UMLS_CUI:C0018528 disease_ontology DOID:9977 hallucinogen dependence DOID:9977 A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance. url:http://en.wikipedia.org/wiki/Hallucinogenic_drugs ICD10CM:N73.3 ICD9CM:614.5 SNOMEDCT_US_2023_03_01:85051008 UMLS_CUI:C0269032 disease_ontology DOID:9978 acute female pelvic peritonitis DOID:9978 A hypereosinophilic syndrome that is characterized by subacute onset of myalgias and peripheral eosinophilia, followed by chronic neuropathy and skin induration. GARD:6345 ICD9CM:710.5 MESH:D016603 SNOMEDCT_US_2023_03_01:95416007 UMLS_CUI:C0085179 Eosinophilia myalgia syndrome disease_ontology DOID:998 eosinophilia-myalgia syndrome DOID:998 A hypereosinophilic syndrome that is characterized by subacute onset of myalgias and peripheral eosinophilia, followed by chronic neuropathy and skin induration. url:https://rarediseases.org/rare-diseases/eosinophilia-myalgia-syndrome/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848710/ An orbital cancer that has_material_basis_in some lymphocyte. GARD:9719 MESH:C537131 NCI:C6244 SNOMEDCT_US_2023_03_01:13048006 UMLS_CUI:C0271333 Lymphoma of the orbit disease_ontology DOID:9986 orbit lymphoma DOID:9986 An orbital cancer that has_material_basis_in some lymphocyte. url:https://en.wikipedia.org/wiki/Orbital_lymphoma An orbital cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm. NCI:C6095 SNOMEDCT_US_2023_03_01:699354006 UMLS_CUI:C1335131 orbital sarcoma disease_ontology DOID:9987 orbit sarcoma DOID:9987 An orbital cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6095 A tertiary syphilis that results in infection located in brain or located in spinal cord. ICD10CM:A52.3 ICD9CM:094 MESH:D009494 NCI:C84935 SNOMEDCT_US_2023_03_01:154384001 UMLS_CUI:C0027927 late neurosyphilis disease_ontology DOID:9988 tertiary neurosyphilis DOID:9988 A tertiary syphilis that results in infection located in brain or located in spinal cord. url:http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh url:http://www.nlm.nih.gov/medlineplus/ency/article/000703.htm metastatic tumor to the orbit secondary malignant neoplasm of orbit (disorder) disease_ontology DOID:9989 obsolete metastasis to the orbit true DOID:9989 A leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs. GARD:2804 ICD10CM:D72.1 ICD9CM:288.3 MESH:D004802 ORDO:168956 SNOMEDCT_US_2023_03_01:418928000 UMLS_CUI:C0014457 Eosinophilic leukocytosis eosinophilia disease_ontology DOID:999 hypereosinophilic syndrome DOID:999 A leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs. url:https://en.wikipedia.org/wiki/Hypereosinophilic_syndrome url:https://www.mayoclinic.org/diseases-conditions/hypereosinophilic-syndrome/symptoms-causes/syc-20352854 A glucose metabolism disease that is characterized by abnormally low levels of blood glucose. ICD10CM:E16.2 ICD9CM:251.2 MESH:D007003 NCI:C3126 SNOMEDCT_US_2023_03_01:154691006 UMLS_CUI:C0020615 Hypoglycaemia disease_ontology DOID:9993 hypoglycemia DOID:9993 A glucose metabolism disease that is characterized by abnormally low levels of blood glucose. url:https://www.niddk.nih.gov/health-information/diabetes/overview/preventing-problems/low-blood-glucose-hypoglycemia disease_ontology DOID:9995 obsolete endocrine and metabolic disturbances specific to the fetus and newborn true DOID:9995 A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery. DOID:11697 DOID:11980 GARD:220 ICD10CM:O90.3 ICD9CM:674.5 NCI:C171602 UMLS_CUI:C0877208 antepartum peripartum cardiomyopathy postpartum peripartum cardiomyopathy disease_ontology DOID:9997 peripartum cardiomyopathy DOID:9997 A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery. url:https://pubmed.ncbi.nlm.nih.gov/30575651/ url:https://www.hopkinsmedicine.org/health/conditions-and-diseases/peripartum-cardiomyopathy A type of information that is used to support an assertion. ECO:0000000 evidence ECO:0000000 A type of information that is used to support an assertion. ECO:MCC A type of curator inference from authoritative resource based on information located in a queryable database and is optimized for computers. ECO:0007636 curator inference from database ECO:0007636 A type of curator inference from authoritative resource based on information located in a queryable database and is optimized for computers. ECO:RCT A type of curator inference from published work where the reference is to an entry in a compendium that provides summarized information on a subject. ECO:0007637 curator inference from encyclopedia ECO:0007637 A type of curator inference from published work where the reference is to an entry in a compendium that provides summarized information on a subject. url:https://en.wikipedia.org/wiki/Encyclopedia A type of curator inference from encyclopedia where the reference is to a Wikipedia article. ECO:0007638 curator inference from Wikipedia ECO:0007638 A type of curator inference from encyclopedia where the reference is to a Wikipedia article. ECO:RCT A type of curator inference from encyclopedia where the reference is to an Encyclopedia Britannica article. ECO:0007639 curator inference from Britannica ECO:0007639 A type of curator inference from encyclopedia where the reference is to an Encyclopedia Britannica article. ECO:RCT A type of curator inference from encyclopedia in which the reference is to an article in the National Library of Medicine's MedLinePlus encyclopedia. ECO:0007640 curator inference from MedlinePlus encyclopedia ECO:0007640 A type of curator inference from encyclopedia in which the reference is to an article in the National Library of Medicine's MedLinePlus encyclopedia. ECO:RCT A type of curator inference from published work in which the entry comes from a collection of words with definitions, usages, pronounciations, and more. ECO:0007641 curator inference from dictionary ECO:0007641 A type of curator inference from published work in which the entry comes from a collection of words with definitions, usages, pronounciations, and more. url:https://en.wikipedia.org/wiki/Dictionary A type of curator inference from dictionary in which the reference is to an entry in the Oxford Dictionaries. ECO:0007642 curator inference from Oxford Dictionary ECO:0007642 A type of curator inference from dictionary in which the reference is to an entry in the Oxford Dictionaries. ECO:RCT A type of curator inference from dictionary in which the reference is to an entry in the Merriam-Webster Dictionary. ECO:0007643 curator inference from Merriam-Webster Dictionary ECO:0007643 A type of curator inference from dictionary in which the reference is to an entry in the Merriam-Webster Dictionary. ECO:RCT A type of curator inference from dictionary in which the reference is to an entry in the National Library of Medicine's MedLinePlus dictionary. ECO:0007644 curator inference from MedlinePlus dictionary ECO:0007644 A type of curator inference from dictionary in which the reference is to an entry in the National Library of Medicine's MedLinePlus dictionary. ECO:RCT A type of curator inference from published work reporting on research findings. ECO:0007645 curator inference from journal publication ECO:0007645 A type of curator inference from published work reporting on research findings. url:https://en.wikipedia.org/wiki/Scientific_journal A type of curator inference from published work based on a book, which may be a reference to a URL (for ebooks) or a DOI. ECO:0007646 curator inference from book ECO:0007646 A type of curator inference from published work based on a book, which may be a reference to a URL (for ebooks) or a DOI. ECO:RCT A type of curator inference that is from what is generally considered an authoritative source on the topic, including model organism databases, newspaper articles, books, journal publications, etc. ECO:0007647 curator inference from authoritative source ECO:0007647 A type of curator inference that is from what is generally considered an authoritative source on the topic, including model organism databases, newspaper articles, books, journal publications, etc. ECO:RCT An excreta material which is composed primarily of feces, an excreta consisting of waste products expelled from an animal's digestive tract through the anus (or cloaca) during defecation. ENVO:00002003 fecal material ENVO:00002003 An excreta material which is composed primarily of feces, an excreta consisting of waste products expelled from an animal's digestive tract through the anus (or cloaca) during defecation. url:https://en.wikipedia.org/wiki/Feces An atmospheric storm during which a large mass of atmospheric gas rotates around a centre of low atmospheric pressure, generating high winds which spiral towards that centre. ENVO:01001297 cyclone ENVO:01001297 An atmospheric storm during which a large mass of atmospheric gas rotates around a centre of low atmospheric pressure, generating high winds which spiral towards that centre. url:https://en.wikipedia.org/wiki/Cyclone A feature that arises from a rapid increase or accumulation in the population of algae (typically microscopic) in an aquatic system. ENVO:02500018 ENVO:2000004 algal bloom ENVO:2000004 A feature that arises from a rapid increase or accumulation in the population of algae (typically microscopic) in an aquatic system. url:https://en.wikipedia.org/wiki/Algal_bloom url:https://www.niehs.nih.gov/health/topics/agents/algal-blooms/index.cfm An exposure stressor that is a change in the distributions, abundance and relations of organisms and their interactions with the environment. ExO:0000007 ecological perturbations ExO:0000007 An exposure stressor that is a change in the distributions, abundance and relations of organisms and their interactions with the environment. url:https://pubmed.ncbi.nlm.nih.gov/29351546/ An ecological perturbation that is acidic water, usually pH 2.5 to 4.5, which poisons the ecosystem and adversely affects plants, fishes, and mammals. It is caused by industrial pollutants, mainly sulfur oxides and nitrogen oxides, emitted into the atmosphere and returning to earth in the form of acidic rain water. ENVO:03000127 OMIT:0016047 ExO:0000013 acid rain ExO:0000013 An ecological perturbation that is acidic water, usually pH 2.5 to 4.5, which poisons the ecosystem and adversely affects plants, fishes, and mammals. It is caused by industrial pollutants, mainly sulfur oxides and nitrogen oxides, emitted into the atmosphere and returning to earth in the form of acidic rain water. url:https://pubmed.ncbi.nlm.nih.gov/29351546/ url:https://www.epa.gov/acidrain/what-acid-rain An ecological pertubation that is any significant change in measures of climate (such as temperature, precipitation, or wind) lasting for an extended period (decades or longer). It may result from natural factors such as changes in the sun's intensity, natural processes within the climate system such as changes in ocean circulation, or human activities. ExO:0000014 climate change ExO:0000014 An ecological pertubation that is any significant change in measures of climate (such as temperature, precipitation, or wind) lasting for an extended period (decades or longer). It may result from natural factors such as changes in the sun's intensity, natural processes within the climate system such as changes in ocean circulation, or human activities. url:https://pubmed.ncbi.nlm.nih.gov/29351546/ A psychosocial agent that is a situation in which the level of living of an individual, family, or group is below the standard of the community. It is often related to a specific income level. ExO:0000015 poverty ExO:0000015 A psychosocial agent that is a situation in which the level of living of an individual, family, or group is below the standard of the community. It is often related to a specific income level. url:https://en.wikipedia.org/wiki/Poverty url:https://www.un.org/en/global-issues/ending-poverty url:https://www.worldbank.org/en/topic/poverty/overview plant food product animal seafood product FOODON:00001057 plant fruit food product vertebrate animal food product avian egg food product bovine dairy food product caprine dairy food product cattle dairy food product cucurbit fruit food product citrus fruit food product pomaceous fruit food product solanaceous fruit food product FOODON:00001164 tomato food product solanaceous food product plant stem food product spice or herb FOODON:00001248 fish food product avian animal food product dairy food product FOODON:00001257 milk or milk based food product FOODON:00001261 vegetable food product botanical fruit food product FOODON:00001264 legume food product FOODON:00001274 egg food product FOODON:00001275 chicken egg food product FOODON:00001293 shellfish food product An alcoholic drink (or alcoholic beverage) is a drink that contains ethanol, a type of alcohol produced by fermentation of grains, fruits, or other sources of sugar. FOODON:00001579 alcoholic beverage FOODON:00001579 An alcoholic drink (or alcoholic beverage) is a drink that contains ethanol, a type of alcohol produced by fermentation of grains, fruits, or other sources of sugar. url:https://en.m.wikipedia.org/wiki/Alcoholic_drink FOODON:00001611 apple food product FOODON:00001615 apricot food product FOODON:00001623 atlantic salmon and trout food product FOODON:00001684 carp food product celery food product FOODON:00001705 leaf celery food product FOODON:00001717 cherry food product cod food product cow milk based food product FOODON:00001792 crustacean food product dill food product FOODON:00002029 melon food product FOODON:00002044 mollusc food product FOODON:00002071 orange food product pacific salmon food product parsley food product FOODON:00002095 peach food product plant fruit as vegetable food product plant stem or spear food product FOODON:00002161 plum fruit food product FOODON:00002185 rainbow trout food product salmon food product FOODON:00002239 shrimp food product FOODON:00002244 snail food product stone fruit food product trout food product food material jujube fruit (raw) tropical fruit food product herb food product tropical fruit jujube fruit animal food product An essential nutrient and natural water-soluble vitamin of the B-complex family that must combine with an intrinsic factor for absorption by the intestine, Vitamin B12 (cyanocobalamin) is necessary for hematopoiesis, neural metabolism, DNA and RNA production, and carbohydrate, fat, and protein metabolism. B12 improves iron functions in the metabolic cycle and assists folic acid in choline synthesis. B12 metabolism is interconnected with that of folic acid. Vitamin B12 deficiency causes pernicious anemia, megaloblastic anemia, and neurologic lesions. NCIT:C939 FOODON:03413761 vitamin B12 FOODON:03413761 An essential nutrient and natural water-soluble vitamin of the B-complex family that must combine with an intrinsic factor for absorption by the intestine, Vitamin B12 (cyanocobalamin) is necessary for hematopoiesis, neural metabolism, DNA and RNA production, and carbohydrate, fat, and protein metabolism. B12 improves iron functions in the metabolic cycle and assists folic acid in choline synthesis. B12 metabolism is interconnected with that of folic acid. Vitamin B12 deficiency causes pernicious anemia, megaloblastic anemia, and neurologic lesions. url:https://www.merckmanuals.com/home/disorders-of-nutrition/vitamins/vitamin-b12-deficiency inheritance pattern co-dominant autosomal inheritance complete autosomal dominant inheritance incomplete autosomal dominant inheritance GENO:0000146 X-linked dominant inheritance GENO:0000146 X-linked dominant inheritance GENO:0000147 autosomal dominant inheritance GENO:0000148 GENO:0000148 autosomal recessive inheritance GENO:0000149 X-linked recessive inheritance GENO:0000149 X-linked recessive inheritance heteroplasmic mitochondrial inheritance homoplasmic mitochondrial inheritance multifactorial inheritance GENO:0000930 digenic inheritance oligogenic inheritance GENO:0000932 polygenic inheritance monogenic inheritance GENO:0000934 autosomal inheritance allosomal inheritance GENO:0000936 X-linked inheritance complete X-linked dominant inheritance incomplete X-linked dominant inheritance co-dominant X-linked inheritance GENO:0000941 Y-linked inheritance GENO:0000949 mitochondrial inheritance sex-limited autosomal dominant inheritance sex-limited autosomal recessive inheritance chromosomal inheritance chromosomal deletion inheritance chromosomal duplication inheritance chromosomal rearrangement inheritance HP:0000002 Abnormality of body height HP:0000002 HP:0000008 Abnormal morphology of female internal genitalia HP:0000008 HP:0000013 Hypoplasia of the uterus HP:0000013 HP:0000014 Abnormality of the bladder HP:0000014 HP:0000015 Bladder diverticulum HP:0000015 HP:0000028 Cryptorchidism HP:0000028 HP:0000032 Abnormal male external genitalia morphology HP:0000032 HP:0000035 Abnormal testis morphology HP:0000035 HP:0000036 Abnormal penis morphology HP:0000036 HP:0000039 Epispadias HP:0000039 HP:0000041 Chordee HP:0000041 HP:0000045 Abnormal scrotum morphology HP:0000045 HP:0000047 Hypospadias HP:0000047 HP:0000050 Hypoplastic male external genitalia HP:0000050 HP:0000055 Abnormal female external genitalia morphology HP:0000055 HP:0000056 Abnormal clitoris morphology HP:0000056 HP:0000068 Urethral atresia HP:0000068 HP:0000069 Abnormality of the ureter HP:0000069 HP:0000070 Ureterocele HP:0000070 HP:0000071 Ureteral stenosis HP:0000071 HP:0000072 Hydroureter HP:0000072 HP:0000073 Ureteral duplication HP:0000073 HP:0000074 Ureteropelvic junction obstruction HP:0000074 HP:0000075 Renal duplication HP:0000075 HP:0000077 Abnormality of the kidney HP:0000077 HP:0000078 Abnormality of the genital system HP:0000078 HP:0000079 Abnormality of the urinary system HP:0000079 HP:0000083 HP:0000083 Renal insufficiency HP:0000083 HP:0000085 Horseshoe kidney HP:0000085 HP:0000086 Ectopic kidney HP:0000086 HP:0000095 Abnormal renal glomerulus morphology HP:0000095 HP:0000098 Tall stature HP:0000098 HP:0000107 Renal cyst HP:0000107 HP:0000118 HP:0000118 Phenotypic abnormality HP:0000118 HP:0000119 Abnormality of the genitourinary system HP:0000119 HP:0000125 Pelvic kidney HP:0000125 HP:0000126 Hydronephrosis HP:0000126 HP:0000130 Abnormality of the uterus HP:0000130 HP:0000142 Abnormal vagina morphology HP:0000142 HP:0000148 Vaginal atresia HP:0000148 HP:0000152 Abnormality of head or neck HP:0000152 HP:0000153 Abnormality of the mouth HP:0000153 HP:0000159 Abnormal lip morphology HP:0000159 HP:0000163 Abnormal oral cavity morphology HP:0000163 HP:0000164 Abnormality of the dentition HP:0000164 HP:0000177 Abnormal upper lip morphology HP:0000177 HP:0000219 Thin upper lip vermilion HP:0000219 HP:0000233 Thin vermilion border HP:0000233 HP:0000234 Abnormality of the head HP:0000234 HP:0000235 Abnormal cranial suture/fontanelle morphology HP:0000235 HP:0000240 Abnormality of skull size HP:0000240 HP:0000256 HP:0000256 Macrocephaly HP:0000256 HP:0000264 Abnormal mastoid morphology HP:0000264 HP:0000271 Abnormality of the face HP:0000271 HP:0000272 HP:0000272 Malar flattening HP:0000272 HP:0000274 Small face HP:0000274 HP:0000275 Narrow face HP:0000275 HP:0000277 Abnormal mandible morphology HP:0000277 HP:0000278 HP:0000278 Retrognathia HP:0000278 HP:0000280 HP:0000280 Coarse facial features HP:0000280 HP:0000288 Abnormality of the philtrum HP:0000288 HP:0000290 Abnormal forehead morphology HP:0000290 HP:0000309 Abnormal midface morphology HP:0000309 HP:0000321 HP:0000321 Square face HP:0000321 HP:0000343 HP:0000343 Long philtrum HP:0000343 HP:0000347 HP:0000347 Micrognathia HP:0000347 HP:0000364 Hearing abnormality HP:0000364 HP:0000366 Abnormality of the nose HP:0000366 HP:0000370 Abnormality of the middle ear HP:0000370 HP:0000478 Abnormality of the eye HP:0000478 HP:0000479 Abnormal retinal morphology HP:0000479 HP:0000481 Abnormal cornea morphology HP:0000481 HP:0000488 HP:0000488 Retinopathy HP:0000488 HP:0000496 Abnormality of eye movement HP:0000496 HP:0000504 Abnormality of vision HP:0000504 HP:0000505 HP:0000505 Visual impairment HP:0000505 HP:0000517 Abnormal lens morphology HP:0000517 HP:0000525 Abnormality iris morphology HP:0000525 HP:0000532 Abnormal chorioretinal morphology HP:0000532 HP:0000553 Abnormal uvea morphology HP:0000553 HP:0000563 HP:0000563 Keratoconus HP:0000563 HP:0000580 HP:0000580 Pigmentary retinopathy HP:0000580 HP:0000587 HP:0000587 Abnormal optic nerve morphology HP:0000587 HP:0000588 Optic disc coloboma HP:0000588 HP:0000589 Coloboma HP:0000589 HP:0000598 Abnormality of the ear HP:0000598 HP:0000609 HP:0000609 Optic nerve hypoplasia HP:0000609 HP:0000610 Abnormal choroid morphology HP:0000610 HP:0000612 HP:0000612 Iris coloboma HP:0000612 HP:0000639 HP:0000639 Nystagmus HP:0000639 HP:0000707 HP:0000707 Abnormality of the nervous system HP:0000707 HP:0000722 Compulsive behaviors HP:0000722 HP:0000750 HP:0000750 Delayed speech and language development HP:0000750 HP:0000765 Abnormal thorax morphology HP:0000765 HP:0000766 Abnormal sternum morphology HP:0000766 HP:0000768 HP:0000768 Pectus carinatum HP:0000768 HP:0000769 Abnormality of the breast HP:0000769 HP:0000772 Abnormal rib morphology HP:0000772 HP:0000773 HP:0000773 Short ribs HP:0000773 HP:0000774 HP:0000774 Narrow chest HP:0000774 HP:0000777 HP:0000777 Abnormal thymus morphology HP:0000777 HP:0000795 Abnormality of the urethra HP:0000795 HP:0000796 Urethral obstruction HP:0000796 HP:0000811 Abnormal external genitalia morphology HP:0000811 HP:0000812 Abnormal internal genitalia HP:0000812 HP:0000818 HP:0000818 Abnormality of the endocrine system HP:0000818 HP:0000820 Abnormality of the thyroid gland HP:0000820 HP:0000828 Abnormality of the parathyroid gland HP:0000828 HP:0000924 Abnormality of the skeletal system HP:0000924 HP:0000925 Abnormality of the vertebral column HP:0000925 HP:0000926 HP:0000926 Platyspondyly HP:0000926 HP:0000927 Abnormality of skeletal maturation HP:0000927 HP:0000929 Abnormal skull morphology HP:0000929 HP:0000940 Abnormal diaphysis morphology HP:0000940 HP:0000944 Abnormal metaphysis morphology HP:0000944 HP:0000951 Abnormality of the skin HP:0000951 HP:0000962 HP:0000962 Hyperkeratosis HP:0000962 HP:0000972 HP:0000972 Palmoplantar hyperkeratosis HP:0000972 HP:0000974 HP:0000974 Hyperextensible skin HP:0000974 HP:0000975 HP:0000975 Hyperhidrosis HP:0000975 HP:0000987 Atypical scarring of skin HP:0000987 HP:0001000 Abnormality of skin pigmentation HP:0001000 HP:0001010 Hypopigmentation of the skin HP:0001010 HP:0001022 Albinism HP:0001022 HP:0001072 Thickened skin HP:0001072 HP:0001075 Atrophic scars HP:0001075 HP:0001098 Abnormal fundus morphology HP:0001098 HP:0001103 Abnormal macular morphology HP:0001103 HP:0001153 Septate vagina HP:0001153 HP:0001155 Abnormality of the hand HP:0001155 HP:0001197 HP:0001197 Abnormality of prenatal development or birth HP:0001197 HP:0001251 HP:0001251 Ataxia HP:0001251 HP:0001252 HP:0001252 Hypotonia HP:0001252 HP:0001257 HP:0001257 Spasticity HP:0001257 HP:0001263 HP:0001263 Global developmental delay HP:0001263 HP:0001268 Mental deterioration HP:0001268 HP:0001272 HP:0001272 Cerebellar atrophy HP:0001272 HP:0001273 Abnormal corpus callosum morphology HP:0001273 HP:0001274 HP:0001274 Agenesis of corpus callosum HP:0001274 HP:0001317 Abnormal cerebellum morphology HP:0001317 HP:0001336 HP:0001336 Myoclonus HP:0001336 HP:0001367 Abnormal joint morphology HP:0001367 HP:0001373 Joint dislocation HP:0001373 HP:0001382 HP:0001382 Joint hypermobility HP:0001382 HP:0001392 Abnormality of the liver HP:0001392 HP:0001397 HP:0001397 Hepatic steatosis HP:0001397 HP:0001438 Abnormal abdomen morphology HP:0001438 HP:0001480 Freckling HP:0001480 HP:0001510 HP:0001510 Growth delay HP:0001510 HP:0001547 Abnormal rib cage morphology HP:0001547 HP:0001548 HP:0001548 Overgrowth HP:0001548 HP:0001574 Abnormality of the integument HP:0001574 HP:0001595 Abnormal hair morphology HP:0001595 HP:0001597 Abnormal nail morphology HP:0001597 HP:0001626 Abnormality of the cardiovascular system HP:0001626 HP:0001627 Abnormal heart morphology HP:0001627 HP:0001697 Abnormal pericardium morphology HP:0001697 HP:0001718 HP:0001718 Mitral stenosis HP:0001718 HP:0001760 Abnormal foot morphology HP:0001760 HP:0001762 HP:0001762 Talipes equinovarus HP:0001762 HP:0001789 HP:0001789 Hydrops fetalis HP:0001789 HP:0001824 Weight loss HP:0001824 HP:0001827 Genital tract atresia HP:0001827 HP:0001871 Abnormality of blood and blood-forming tissues HP:0001871 HP:0001872 Abnormality of thrombocytes HP:0001872 HP:0001879 Abnormal eosinophil morphology HP:0001879 HP:0001880 HP:0001880 Increased total eosinophil count HP:0001880 HP:0001881 Abnormal leukocyte morphology HP:0001881 HP:0001883 Talipes HP:0001883 HP:0001911 HP:0001911 Abnormal granulocyte morphology HP:0001911 HP:0001928 Abnormality of coagulation HP:0001928 HP:0001939 Abnormality of metabolism/homeostasis HP:0001939 HP:0001952 Glucose intolerance HP:0001952 HP:0001965 Abnormal scalp morphology HP:0001965 HP:0001966 Abnormal glomerular mesangium morphology HP:0001966 HP:0001967 Diffuse mesangial sclerosis HP:0001967 HP:0001999 HP:0001999 Abnormal facial shape HP:0001999 HP:0002007 HP:0002007 Frontal bossing HP:0002007 HP:0002011 Morphological central nervous system abnormality HP:0002011 HP:0002012 Abnormality of the abdominal organs HP:0002012 HP:0002024 Malabsorption HP:0002024 HP:0002060 Abnormal cerebral morphology HP:0002060 HP:0002074 HP:0002074 Increased neuronal autofluorescent lipopigment HP:0002074 HP:0002086 Abnormality of the respiratory system HP:0002086 HP:0002088 Abnormal lung morphology HP:0002088 HP:0002103 Abnormal pleura morphology HP:0002103 HP:0002113 HP:0002113 Pulmonary infiltrates HP:0002113 HP:0002143 Abnormal spinal cord morphology HP:0002143 HP:0002157 Azotemia HP:0002157 HP:0002167 Abnormal speech pattern HP:0002167 HP:0002209 Sparse scalp hair HP:0002209 HP:0002242 Abnormal intestine morphology HP:0002242 HP:0002334 Abnormal cerebellar vermis morphology HP:0002334 HP:0002344 Progressive neurologic deterioration HP:0002344 HP:0002463 Language impairment HP:0002463 HP:0002493 Upper motor neuron dysfunction HP:0002493 HP:0002500 Abnormal cerebral white matter morphology HP:0002500 HP:0002503 HP:0002503 Spinocerebellar tract degeneration HP:0002503 HP:0002579 HP:0002579 Gastrointestinal dysmotility HP:0002579 HP:0002597 Abnormality of the vasculature HP:0002597 HP:0002617 HP:0002617 Vascular dilatation HP:0002617 HP:0002652 HP:0002652 Skeletal dysplasia HP:0002652 HP:0002683 Abnormal calvaria morphology HP:0002683 HP:0002715 Abnormality of the immune system HP:0002715 HP:0002750 Delayed skeletal maturation HP:0002750 HP:0002793 Abnormal pattern of respiration HP:0002793 HP:0002795 HP:0002795 Abnormal respiratory system physiology HP:0002795 HP:0002797 HP:0002797 Osteolysis HP:0002797 HP:0002812 HP:0002812 Coxa vara HP:0002812 HP:0002813 Abnormal limb bone morphology HP:0002813 HP:0002814 Abnormality of the lower limb HP:0002814 HP:0002815 Abnormality of the knee HP:0002815 HP:0002817 Abnormality of the upper limb HP:0002817 HP:0002823 Abnormal femur morphology HP:0002823 HP:0002970 HP:0002970 Genu varum HP:0002970 HP:0002977 Aplasia/Hypoplasia involving the central nervous system HP:0002977 HP:0002979 Bowing of the legs HP:0002979 HP:0002981 Abnormality of the calf HP:0002981 HP:0002983 Micromelia HP:0002983 HP:0003011 Abnormality of the musculature HP:0003011 HP:0003027 Mesomelia HP:0003027 HP:0003110 Abnormality of urine homeostasis HP:0003110 HP:0003112 Abnormal circulating amino acid concentration HP:0003112 HP:0003125 Reduced factor VIII activity HP:0003125 HP:0003133 Abnormality of the spinocerebellar tracts HP:0003133 HP:0003187 Breast hypoplasia HP:0003187 HP:0003202 HP:0003202 Skeletal muscle atrophy HP:0003202 HP:0003231 HP:0003231 Hypertyrosinemia HP:0003231 HP:0003241 External genital hypoplasia HP:0003241 HP:0003256 Abnormality of the coagulation cascade HP:0003256 HP:0003307 HP:0003307 Hyperlordosis HP:0003307 HP:0003312 Abnormal form of the vertebral bodies HP:0003312 HP:0003330 HP:0003330 Abnormal bone structure HP:0003330 HP:0003355 HP:0003355 Aminoaciduria HP:0003355 HP:0003366 Abnormal femoral neck/head morphology HP:0003366 HP:0003367 Abnormal femoral neck morphology HP:0003367 HP:0003468 Abnormal vertebral morphology HP:0003468 HP:0003498 Disproportionate short stature HP:0003498 HP:0003508 Proportionate short stature HP:0003508 HP:0003510 HP:0003510 Severe short stature HP:0003510 HP:0003521 HP:0003521 Disproportionate short-trunk short stature HP:0003521 HP:0003549 Abnormality of connective tissue HP:0003549 HP:0003577 A phenotypic abnormality that is present at birth. HP:0003577 Congenital onset HP:0003577 HP:0003581 Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. HP:0003581 Adult onset HP:0003581 HP:0003584 A type of adult onset with onset of symptoms after the age of 60 years. HP:0003584 Late onset HP:0003584 HP:0003593 Onset of signs or symptoms of disease between 28 days to one year of life. HP:0003593 Infantile onset HP:0003593 HP:0003596 A type of adult onset with onset of symptoms at the age of 40 to 60 years. HP:0003596 Middle age onset HP:0003596 HP:0003621 Onset of signs or symptoms of disease between the age of 5 and 15 years. HP:0003621 Juvenile onset HP:0003621 HP:0003623 Onset of signs or symptoms of disease within the first 28 days of life. HP:0003623 Neonatal onset HP:0003623 The age group in which disease manifestations appear. HP:0003674 onset HP:0003674 HP:0003808 Abnormal muscle tone HP:0003808 HP:0004297 Abnormality of the biliary system HP:0004297 HP:0004298 Abnormality of the abdominal wall HP:0004298 HP:0004305 Involuntary movements HP:0004305 HP:0004306 Abnormal endocardium morphology HP:0004306 HP:0004313 HP:0004313 Decreased circulating immunoglobulin concentration HP:0004313 HP:0004322 HP:0004322 Short stature HP:0004322 HP:0004323 Abnormality of body weight HP:0004323 HP:0004324 Increased body weight HP:0004324 HP:0004325 Decreased body weight HP:0004325 HP:0004326 HP:0004326 Cachexia HP:0004326 HP:0004328 Abnormal anterior eye segment morphology HP:0004328 HP:0004329 Abnormal posterior eye segment morphology HP:0004329 HP:0004334 Dermal atrophy HP:0004334 HP:0004338 Abnormal circulating aromatic amino acid concentration HP:0004338 HP:0004340 HP:0004340 Abnormality of vitamin B metabolism HP:0004340 HP:0004341 Abnormality of vitamin B12 metabolism HP:0004341 HP:0004348 Abnormality of bone mineral density HP:0004348 HP:0004354 Abnormal circulating carboxylic acid concentration HP:0004354 HP:0004360 Abnormality of acid-base homeostasis HP:0004360 HP:0004364 Abnormal circulating nitrogen compound concentration HP:0004364 HP:0004372 Reduced consciousness HP:0004372 HP:0004566 HP:0004566 Pear-shaped vertebrae HP:0004566 HP:0004712 Renal malrotation HP:0004712 HP:0004736 Crossed fused renal ectopia HP:0004736 HP:0004742 Abnormal renal collecting system morphology HP:0004742 HP:0005132 HP:0005132 Pericardial constriction HP:0005132 HP:0005217 Abdominal organ duplication HP:0005217 HP:0005257 HP:0005257 Thoracic hypoplasia HP:0005257 HP:0005339 HP:0005339 Abnormality of complement system HP:0005339 HP:0005368 Abnormality of humoral immunity HP:0005368 HP:0005372 Abnormality of B cell physiology HP:0005372 HP:0005599 Hypopigmentation of hair HP:0005599 HP:0005656 Positional foot deformity HP:0005656 HP:0005832 HP:0005832 Dysharmonic delayed bone age HP:0005832 HP:0006000 Ureteral obstruction HP:0006000 HP:0006483 Abnormal number of teeth HP:0006483 HP:0006487 Bowing of the long bones HP:0006487 HP:0006530 HP:0006530 Abnormal pulmonary interstitial morphology HP:0006530 HP:0006561 Lipid accumulation in hepatocytes HP:0006561 HP:0006685 HP:0006685 Endocardial fibrosis HP:0006685 HP:0006711 Aplasia/Hypoplasia involving bones of the thorax HP:0006711 HP:0006712 Aplasia/Hypoplasia of the ribs HP:0006712 HP:0006817 HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis HP:0006817 HP:0007360 Aplasia/Hypoplasia of the cerebellum HP:0007360 HP:0007364 Aplasia/Hypoplasia of the cerebrum HP:0007364 HP:0007367 Atrophy/Degeneration affecting the central nervous system HP:0007367 HP:0007369 Atrophy/Degeneration affecting the cerebrum HP:0007369 HP:0007370 Aplasia/Hypoplasia of the corpus callosum HP:0007370 HP:0007431 HP:0007431 Congenital ichthyosiform erythroderma HP:0007431 HP:0007495 HP:0007495 Prematurely aged appearance HP:0007495 HP:0007513 Generalized hypopigmentation HP:0007513 HP:0007556 Plantar hyperkeratosis HP:0007556 HP:0007700 Ocular anterior segment dysgenesis HP:0007700 HP:0007703 Abnormality of retinal pigmentation HP:0007703 HP:0007858 HP:0007858 Chorioretinal lacunae HP:0007858 HP:0008055 Aplasia/Hypoplasia affecting the uvea HP:0008055 HP:0008057 Aplasia/Hypoplasia affecting the fundus HP:0008057 HP:0008058 Aplasia/Hypoplasia of the optic nerve HP:0008058 HP:0008065 Aplasia/Hypoplasia of the skin HP:0008065 HP:0008067 Abnormally lax or hyperextensible skin HP:0008067 HP:0008070 HP:0008070 Sparse hair HP:0008070 HP:0008609 Abnormal middle ear morphology HP:0008609 HP:0008665 Clitoral hypertrophy HP:0008665 HP:0008684 Aplasia/hypoplasia of the uterus HP:0008684 HP:0008706 Distal urethral duplication HP:0008706 HP:0008734 Decreased testicular size HP:0008734 HP:0008873 HP:0008873 Disproportionate short-limb short stature HP:0008873 HP:0008905 Rhizomelia HP:0008905 HP:0009115 Aplasia/hypoplasia involving the skeleton HP:0009115 HP:0009116 Aplasia/Hypoplasia involving bones of the skull HP:0009116 HP:0009118 Aplasia/Hypoplasia of the mandible HP:0009118 HP:0009121 Abnormal axial skeleton morphology HP:0009121 HP:0009122 Aplasia/hypoplasia affecting bones of the axial skeleton HP:0009122 HP:0009804 HP:0009804 Tooth agenesis HP:0009804 HP:0009815 Aplasia/hypoplasia of the extremities HP:0009815 HP:0009826 Limb undergrowth HP:0009826 HP:0009887 Abnormality of hair pigmentation HP:0009887 HP:0010311 Aplasia/Hypoplasia of the breasts HP:0010311 HP:0010460 Abnormality of the female genitalia HP:0010460 HP:0010461 Abnormality of the male genitalia HP:0010461 HP:0010468 Aplasia/Hypoplasia of the testes HP:0010468 HP:0010481 Urethral valve HP:0010481 HP:0010647 Abnormal elasticity of skin HP:0010647 HP:0010668 Abnormal zygomatic bone morphology HP:0010668 HP:0010674 HP:0010674 Abnormal curvature of the vertebral column HP:0010674 HP:0010701 HP:0010701 Abnormal circulating immunoglobulin concentration HP:0010701 HP:0010765 Palmar hyperkeratosis HP:0010765 HP:0010866 Abdominal wall defect HP:0010866 HP:0010884 Acromelia HP:0010884 HP:0010917 Abnormal circulating tyrosine concentration HP:0010917 HP:0010932 Abnormal circulating nucleobase concentration HP:0010932 HP:0010935 Abnormality of the upper urinary tract HP:0010935 HP:0010936 Abnormality of the lower urinary tract HP:0010936 HP:0010944 Abnormal renal pelvis morphology HP:0010944 HP:0010945 Fetal pyelectasis HP:0010945 HP:0010946 Dilatation of the renal pelvis HP:0010946 HP:0010957 Congenital posterior urethral valve HP:0010957 HP:0010974 Abnormal myeloid leukocyte morphology HP:0010974 HP:0010978 HP:0010978 Abnormality of immune system physiology HP:0010978 HP:0010987 Abnormal cellular immune system morphology HP:0010987 HP:0010989 Abnormality of the intrinsic pathway HP:0010989 HP:0010993 Abnormal cerebral subcortex morphology HP:0010993 HP:0010995 Abnormal circulating dicarboxylic acid concentration HP:0010995 HP:0011001 HP:0011001 Increased bone mineral density HP:0011001 HP:0011014 Abnormal glucose homeostasis HP:0011014 HP:0011015 HP:0011015 Abnormal blood glucose concentration HP:0011015 HP:0011017 Abnormal cellular physiology HP:0011017 HP:0011024 Abnormality of the gastrointestinal tract HP:0011024 HP:0011025 Abnormal cardiovascular system physiology HP:0011025 HP:0011028 Abnormality of blood circulation HP:0011028 HP:0011032 Abnormality of fluid regulation HP:0011032 HP:0011035 Abnormal renal cortex morphology HP:0011035 HP:0011121 Abnormal skin morphology HP:0011121 HP:0011122 Abnormality of skin physiology HP:0011122 HP:0011129 Bilateral fetal pyelectasis HP:0011129 HP:0011138 Abnormal skin adnexa morphology HP:0011138 HP:0011218 Abnormal shape of the frontal region HP:0011218 HP:0011220 Prominent forehead HP:0011220 HP:0011276 Vascular skin abnormality HP:0011276 HP:0011277 Abnormality of the urinary system physiology HP:0011277 HP:0011282 Abnormal hindbrain morphology HP:0011282 HP:0011283 Abnormal metencephalon morphology HP:0011283 HP:0011297 HP:0011297 Abnormal digit morphology HP:0011297 HP:0011314 Abnormal long bone morphology HP:0011314 HP:0011329 Abnormality of cranial sutures HP:0011329 HP:0011339 Abnormality of upper lip vermillion HP:0011339 HP:0011354 Generalized abnormality of skin HP:0011354 HP:0011356 Regional abnormality of skin HP:0011356 HP:0011362 Abnormal hair quantity HP:0011362 HP:0011368 HP:0011368 Epidermal thickening HP:0011368 HP:0011389 Functional abnormality of the inner ear HP:0011389 HP:0011425 Fetal ultrasound soft marker HP:0011425 HP:0011442 Abnormal central motor function HP:0011442 HP:0011443 Abnormality of coordination HP:0011443 HP:0011446 Abnormality of mental function HP:0011446 HP:0011452 Functional abnormality of the middle ear HP:0011452 Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation). HP:0011460 Embryonal onset HP:0011460 HP:0011461 Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). HP:0011461 Fetal onset HP:0011461 HP:0011462 Onset of disease at the age of between 16 and 40 years. HP:0011462 Young adult onset HP:0011462 HP:0011463 Onset of disease at the age of between 1 and 5 years. HP:0011463 Childhood onset HP:0011463 HP:0011486 Abnormal corneal thickness HP:0011486 HP:0011729 Abnormality of joint mobility HP:0011729 HP:0011767 HP:0011767 Abnormality of the parathyroid physiology HP:0011767 HP:0011772 Abnormal thyroid morphology HP:0011772 HP:0011800 HP:0011800 Midface retrusion HP:0011800 HP:0011804 Abnormal muscle physiology HP:0011804 HP:0011805 Abnormal skeletal muscle morphology HP:0011805 HP:0011813 Increased cerebral lipofuscin HP:0011813 HP:0011821 Abnormal facial skeleton morphology HP:0011821 HP:0011842 Abnormal skeletal morphology HP:0011842 HP:0011843 Abnormal musculoskeletal physiology HP:0011843 HP:0011844 Abnormal appendicular skeleton morphology HP:0011844 HP:0011849 Abnormal bone ossification HP:0011849 HP:0011873 Abnormal platelet count HP:0011873 HP:0011875 Abnormal platelet morphology HP:0011875 HP:0011893 Abnormal leukocyte count HP:0011893 HP:0012210 Abnormal renal morphology HP:0012210 HP:0012211 Abnormal renal physiology HP:0012211 HP:0012243 Abnormal reproductive system morphology HP:0012243 HP:0012252 Abnormal respiratory system morphology HP:0012252 HP:0012337 Abnormal homeostasis HP:0012337 HP:0012372 Abnormal eye morphology HP:0012372 HP:0012373 Abnormal eye physiology HP:0012373 HP:0012435 Ventral shortening of foreskin HP:0012435 HP:0012443 Abnormal brain morphology HP:0012443 HP:0012444 Brain atrophy HP:0012444 HP:0012547 Abnormal involuntary eye movements HP:0012547 HP:0012575 Abnormal nephron morphology HP:0012575 HP:0012585 Renal atrophy HP:0012585 HP:0012638 Abnormal nervous system physiology HP:0012638 HP:0012639 Abnormal nervous system morphology HP:0012639 HP:0012640 Abnormality of intracranial pressure HP:0012640 HP:0012641 HP:0012641 Decreased intracranial pressure HP:0012641 HP:0012647 Abnormal inflammatory response HP:0012647 HP:0012649 Increased inflammatory response HP:0012649 HP:0012700 Abnormal large intestine physiology HP:0012700 HP:0012718 Abnormal gastrointestinal tract morphology HP:0012718 HP:0012719 Functional abnormality of the gastrointestinal tract HP:0012719 HP:0012758 HP:0012758 Neurodevelopmental delay HP:0012758 HP:0012759 HP:0012759 Neurodevelopmental abnormality HP:0012759 HP:0012795 Abnormal optic disc morphology HP:0012795 HP:0020064 Abnormal total eosinophil count HP:0025015 Abnormal vascular morphology HP:0025031 Abnormality of the digestive system HP:0025032 Abnormality of digestive system physiology HP:0025033 Abnormal digestive system morphology HP:0025276 Abnormality of skin adnexa physiology HP:0025354 Abnormal cellular phenotype HP:0025487 Abnormal bladder morphology HP:0025633 Abnormal ureter morphology HP:0025634 Abnormal ureter physiology HP:0025745 Abnormal urine amino acid level HP:0025766 Abnormal affect HP:0025780 Abnormal volitional state HP:0025792 Abnormal cognitive process HP:0030263 Torsion of the penis HP:0030264 Webbed penis HP:0030674 Onset prior to birth. Antenatal onset HP:0030680 Abnormal cardiovascular system morphology HP:0030680 HP:0030791 Abnormal jaw morphology HP:0030895 Abnormal gastrointestinal motility HP:0030956 Abnormality of cardiovascular system electrophysiology HP:0030976 Abnormal factor VIII activity HP:0031093 Abnormal breast morphology HP:0031105 Abnormal uterus morphology HP:0031137 Storage in hepatocytes HP:0031158 Widened atrophic scar HP:0031263 Abnormal renal corpuscle morphology HP:0031409 Abnormal lymphocyte physiology HP:0031481 Abnormal mitral valve physiology HP:0031650 Abnormal atrioventricular valve physiology HP:0031652 Abnormal aortic valve physiology HP:0031653 Abnormal heart valve physiology HP:0031703 Abnormal ear morphology HP:0031704 Abnormal ear physiology HP:0031816 Abnormal oral morphology HP:0031909 Unicornuate uterus HP:0031983 Abnormal pulmonary thoracic imaging finding HP:0032076 Abnormal male urethral meatus morphology HP:0032101 Unusual infection HP:0032180 Abnormal circulating metabolite concentration HP:0032243 Abnormal tissue metabolite concentration HP:0032245 Abnormal metabolism HP:0032251 Abnormal immune system morphology HP:0032252 Granuloma HP:0032309 Abnormal granulocyte count HP:0032368 Acidemia HP:0032465 Bladder trabeculation HP:0033095 Increased sulfur amino acid level in urine HP:0033100 Increased proteinogenic amino acid level in urine HP:0033107 Abnormal circulating proteinogenic amino acid concentration HP:0033127 Abnormality of the musculoskeletal system HP:0033259 Non-motor seizure HP:0033353 Abnormal blood vessel morphology HP:0033354 Abnormal urine metabolite level HP:0033725 Thin corpus callosum HP:0033796 Abnormal leukocyte physiology HP:0034057 Fetal anomaly HP:0034058 Abnormal fetal morphology HP:0034233 Disc kidney HP:0034242 Abnormal fetal genitourinary system morphology HP:0034378 Urethrovesical occlusion HP:0034430 Abnormal joint physiology HP:0034434 Abnormal communication HP:0034644 Abnormal liver metabolite concentration HP:0034669 Abnormal knee morphology HP:0040064 Abnormality of limbs HP:0040068 Abnormality of limb bone HP:0040069 Abnormal lower limb bone morphology HP:0040126 Abnormal circulating vitamin B12 concentration HP:0040194 Increased head circumference HP:0040195 Decreased head circumference HP:0040211 Abnormal skin morphology of the palm HP:0040252 Abnormal size of the clitoris HP:0040253 Increased size of the clitoris HP:0045058 Abnormality of the testis size HP:0100022 Abnormality of movement HP:0100022 HP:0100033 Tics HP:0100033 HP:0100034 HP:0100034 Motor tics HP:0100034 HP:0100035 HP:0100035 Phonic tics HP:0100035 HP:0100037 Abnormality of the scalp hair HP:0100037 HP:0100491 Abnormality of lower limb joint HP:0100491 HP:0100508 Abnormality of vitamin metabolism HP:0100508 HP:0100542 Abnormal localization of kidney HP:0100542 HP:0100543 HP:0100543 Cognitive impairment HP:0100543 HP:0100547 Abnormal forebrain morphology HP:0100547 HP:0100587 Abnormal preputium morphology HP:0100587 HP:0100600 Penoscrotal transposition HP:0100600 HP:0100627 Displacement of the urethral meatus HP:0100627 HP:0100689 Decreased corneal thickness HP:0100689 HP:0100691 Abnormality of the curvature of the cornea HP:0100691 HP:0100692 Increased corneal curvature HP:0100692 HP:0100699 HP:0100699 Scarring HP:0100699 HP:0100763 Abnormality of the lymphatic system HP:0100763 HP:0100765 HP:0100765 Abnormality of the tonsils HP:0100765 HP:0100871 Abnormal palm morphology HP:0100871 HP:0100872 Abnormality of the plantar skin of foot HP:0100872 HP:0100877 Renal diverticulum HP:0100877 HP:0100957 Abnormal renal medulla morphology HP:0100957 HP:0200000 Dysharmonic skeletal maturation HP:0200000 HP:0410042 Abnormal liver morphology HP:0410280 Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. Pediatric onset HP:0430000 Abnormal frontal bone morphology HP:0430071 Abnormal circulating organic compound concentration HP:4000072 Abnormal language feature HP:4000074 Involuntary vocalization HP:5200241 Recurrent maladaptive behavior omim_susceptibility MIM:102300 susceptibility to restless legs syndrome 1 MIM:102300 MIM:106300 susceptibility to spondyloarthropathy 1 MIM:106300 MIM:125480 major affective disorder 1 MIM:125480 MIM:126200 susceptibility to multiple sclerosis MIM:126200 MIM:127700 susceptibility to dyslexia 1 MIM:127700 MIM:131200 susceptibility to endometriosis MIM:131200 MIM:133180 susceptibility to acute erythroid leukemia MIM:133180 MIM:137800 glioma susceptibility 1 MIM:137800 MIM:140600 osteoarthritis susceptibility 2 MIM:140600 MIM:142623 susceptibility to hirschsprung disease 1 MIM:142623 MIM:145600 susceptibility to malignant hyperthermia 1 MIM:145600 MIM:146500 susceptibility to multiple system atrophy 1 MIM:146500 MIM:148000 susceptibility to kaposi sarcoma MIM:148000 MIM:155600 susceptibility to cutaneous malignant melanoma 1 MIM:155600 MIM:155601 susceptibility to cutaneous malignant melanoma 2 MIM:155601 MIM:165720 osteoarthritis susceptibility 1 MIM:165720 MIM:166760 susceptibility to otitis media MIM:166760 MIM:177900 susceptibility to psoriasis 1 MIM:177900 MIM:181000 susceptibility to sarcoidosis 1 MIM:181000 MIM:181800 susceptibility to isolated scoliosis 1 MIM:181800 MIM:182940 susceptibility to neural tube defects MIM:182940 MIM:185100 susceptibility to strabismus MIM:185100 MIM:188890 susceptibility to tobacco addiction MIM:188890 MIM:212750 susceptibility to celiac disease 1 MIM:212750 MIM:215400 susceptibility to chordoma MIM:215400 MIM:226400 susceptibility to epidermodysplasia verruciformis 1 MIM:226400 MIM:235400 susceptibility to atypical hemolytic uremic syndrome 1 MIM:235400 MIM:245300 susceptibility to kuru MIM:245300 MIM:246300 susceptibility to leprosy 3 MIM:246300 MIM:256700 susceptibility to neuroblastoma MIM:256700 MIM:258660 susceptibility to nonarteritic anterior ischemic optic neuropathy MIM:258660 MIM:300125 susceptibility to migraine with or without aura 2 MIM:300125 MIM:300351 susceptibility to Graves disease X-linked 1 MIM:300351 MIM:300425 susceptibility to X-linked autism 1 MIM:300425 MIM:300464 susceptibility to coronary heart disease 3 MIM:300464 MIM:300494 susceptibility to X-linked asperger syndrome 1 MIM:300494 MIM:300495 susceptibility to X-linked autism 2 MIM:300495 MIM:300496 susceptibility to X-linked autism 3 MIM:300496 MIM:300497 susceptibility to X-linked asperger syndrome 2 MIM:300497 MIM:300509 susceptibility to dyslexia 9 MIM:300509 MIM:300830 susceptibility to X-linked autism 4 MIM:300830 MIM:300847 susceptibility to X-linked autism 5 MIM:300847 MIM:300872 susceptibility to X-linked autism 6 MIM:300872 MIM:300909 susceptibility to angioedema induced by ace inhibitors MIM:300909 MIM:309200 major affective disorder 2 MIM:309200 MIM:600131 susceptibility to childhood absence epilepsy 1 MIM:600131 MIM:600155 susceptibility to hirschsprung disease 2 MIM:600155 MIM:600156 susceptibility to hirschsprung disease 5 MIM:600156 MIM:600202 susceptibility to dyslexia 2 MIM:600202 MIM:600807 susceptibility to asthma MIM:600807 MIM:601454 susceptibility to psoriasis 3 MIM:601454 MIM:601744 susceptibility to systemic lupus erythematosus 1 MIM:601744 MIM:601887 susceptibility to malignant hyperthermia 5 MIM:601887 MIM:602477 susceptibility to idiopathic generalized epilepsy 17 MIM:602477 MIM:603388 susceptibility to Graves disease 2 MIM:603388 MIM:603918 susceptibility to essential hypertension 1 MIM:603918 MIM:603935 susceptibility to psoriasis 4 MIM:603935 MIM:604254 susceptibility to dyslexia 3 MIM:604254 MIM:604316 susceptibility to psoriasis 5 MIM:604316 MIM:604329 susceptibility to essential hypertension 2 MIM:604329 MIM:604370 susceptibility to familial breast-ovarian cancer 1 MIM:604370 MIM:604827 susceptibility to idiopathic generalized epilepsy 7 MIM:604827 MIM:605218 susceptibility to systemic lupus erythematosus 2 MIM:605218 MIM:605364 susceptibility to psoriasis 6 MIM:605364 MIM:605462 susceptibility to basal cell carcinoma 1 MIM:605462 MIM:605990 susceptibility to uric acid nephrolithiasis MIM:605990 MIM:606217 susceptibility to atrioventricular septal defect 2 MIM:606217 MIM:606581 susceptibility to polysubstance abuse MIM:606581 MIM:606616 susceptibility to dyslexia 6 MIM:606616 MIM:606657 susceptibility to normal tension glaucoma MIM:606657 MIM:606788 susceptibility to anorexia nervosa MIM:606788 MIM:606798 susceptibility to benign essential blepharospasm MIM:606798 MIM:606856 susceptibility to pancreatic cancer 1 MIM:606856 MIM:606874 susceptibility to hirschsprung disease 6 MIM:606874 MIM:606875 susceptibility to hirschsprung disease 7 MIM:606875 MIM:606896 susceptibility to dyslexia 5 MIM:606896 MIM:606972 susceptibility to idiopathic generalized epilepsy 2 MIM:606972 MIM:607174 susceptibility to familial meningioma MIM:607174 MIM:607202 susceptibility to celiac disease 5 MIM:607202 MIM:607248 glioma susceptibility 4 MIM:607248 MIM:607329 susceptibility to essential hypertension 3 MIM:607329 MIM:607339 susceptibility to coronary heart disease 1 MIM:607339 MIM:607354 susceptibility to isolated scoliosis 2 MIM:607354 MIM:607373 susceptibility to autism 8 MIM:607373 MIM:607499 susceptibility to bulimia nervosa MIM:607499 MIM:607507 psoriatic arthritis susceptibility MIM:607507 MIM:607516 susceptibility to migraine with or without aura 6 MIM:607516 MIM:607628 susceptibility to idiopathic generalized epilepsy 11 MIM:607628 MIM:607681 OMIM:607681 was a susceptibility moved to a phenotype[LS] obsolete susceptibility to childhood absence epilepsy 2 true MIM:607681 MIM:607682 susceptibility to idiopathic generalized epilepsy 9 MIM:607682 MIM:607688 susceptibility to autosomal dominant parkinson disease 11 MIM:607688 MIM:607832 susceptibility to focal segmental glomerulosclerosis 3 MIM:607832 MIM:607836 susceptibility to autoimmune disease 1 MIM:607836 MIM:607850 osteoarthritis susceptibility 3 MIM:607850 MIM:607857 susceptibility to psoriasis 9 MIM:607857 MIM:608035 susceptibility to cutaneous malignant melanoma 4 MIM:608035 MIM:608049 susceptibility to autism 3 MIM:608049 MIM:608316 susceptibility to coronary heart disease 2 MIM:608316 MIM:608318 susceptibility to coronary heart disease 4 MIM:608318 MIM:608391 susceptibility to autoimmune disease 2 MIM:608391 MIM:608392 susceptibility to autoimmune disease 3 MIM:608392 MIM:608446 susceptibility to myocardial infarction MIM:608446 MIM:608462 susceptibility to hirschsprung disease 8 MIM:608462 MIM:608556 susceptibility to legionnaire disease MIM:608556 MIM:608709 susceptibility to partial acquired lipodystrophy MIM:608709 MIM:608742 susceptibility to essential hypertension 4 MIM:608742 MIM:608762 susceptibility to idiopathic generalized epilepsy 3 MIM:608762 MIM:608765 susceptibility to isolated scoliosis 3 MIM:608765 MIM:608812 susceptibility to colorectal cancer 1 MIM:608812 MIM:608831 susceptibility to restless legs syndrome 2 MIM:608831 MIM:608864 susceptibility to orofacial cleft 6 MIM:608864 MIM:608901 susceptibility to coronary heart disease 5 MIM:608901 MIM:608995 susceptibility to dyslexia 8 MIM:608995 MIM:609048 susceptibility to cutaneous malignant melanoma 3 MIM:609048 MIM:609148 susceptibility to mild malaria MIM:609148 MIM:609378 susceptibility to autism 6 MIM:609378 MIM:609400 susceptibility to autoimmune disease 4 MIM:609400 MIM:609423 susceptibility to human immunodeficiency virus type 1 MIM:609423 MIM:609532 susceptibility to hepatitis C virus MIM:609532 MIM:609633 major affective disorder 3 MIM:609633 MIM:609750 susceptibility to idiopathic generalized epilepsy 4 MIM:609750 MIM:609753 susceptibility to celiac disease 4 MIM:609753 MIM:609754 susceptibility to celiac disease 2 MIM:609754 MIM:609755 susceptibility to celiac disease 3 MIM:609755 MIM:610261 susceptibility to essential hypertension 5 MIM:610261 MIM:610262 susceptibility to essential hypertension 6 MIM:610262 susceptibility to autosomal dominant parkinson disease 13 MIM:610438 susceptibility to restless legs syndrome 3 MIM:610438 MIM:610439 susceptibility to restless legs syndrome 4 MIM:610439 MIM:610676 susceptibility to autism 7 MIM:610676 MIM:610707 susceptibility to psoriasis 8 MIM:610707 MIM:610836 susceptibility to autism 11 MIM:610836 MIM:610839 osteoarthritis susceptibility 4 MIM:610839 MIM:610908 susceptibility to autism 13 MIM:610908 MIM:610927 susceptibility to systemic lupus erythematosus 9 MIM:610927 MIM:610938 susceptibility to coronary heart disease 7 MIM:610938 MIM:610948 susceptibility to essential hypertension 7 MIM:610948 MIM:610988 susceptibility to leprosy 4 MIM:610988 MIM:611014 susceptibility to essential hypertension 8 MIM:611014 MIM:611015 susceptibility to autism 9 MIM:611015 MIM:611016 susceptibility to autism 10 MIM:611016 MIM:611136 susceptibility to idiopathic generalized epilepsy 13 MIM:611136 MIM:611139 susceptibility to coronary heart disease 8 MIM:611139 MIM:611162 susceptibility to malaria MIM:611162 MIM:611185 susceptibility to restless legs syndrome 6 MIM:611185 MIM:611242 susceptibility to restless legs syndrome 5 MIM:611242 MIM:611247 major affective disorder 4 MIM:611247 MIM:611469 susceptibility to colorectal cancer 2 MIM:611469 MIM:611535 major affective disorder 5 MIM:611535 MIM:611536 major affective disorder 6 MIM:611536 MIM:611598 susceptibility to celiac disease 6 MIM:611598 MIM:611644 susceptibility to hirschsprung disease 9 MIM:611644 MIM:611934 susceptibility to idiopathic generalized epilepsy 5 MIM:611934 MIM:611942 susceptibility to childhood absence epilepsy 6 MIM:611942 MIM:612005 susceptibility to celiac disease 7 MIM:612005 MIM:612006 susceptibility to celiac disease 8 MIM:612006 MIM:612007 susceptibility to celiac disease 9 MIM:612007 MIM:612008 susceptibility to celiac disease 10 MIM:612008 MIM:612009 susceptibility to celiac disease 11 MIM:612009 MIM:612010 susceptibility to celiac disease 12 MIM:612010 MIM:612011 susceptibility to celiac disease 13 MIM:612011 MIM:612030 susceptibility to coronary heart disease 9 MIM:612030 MIM:612100 susceptibility to autism 15 MIM:612100 MIM:612229 susceptibility to colorectal cancer 3 MIM:612229 MIM:612230 susceptibility to colorectal cancer 5 MIM:612230 MIM:612231 susceptibility to colorectal cancer 6 MIM:612231 MIM:612232 susceptibility to colorectal cancer 7 MIM:612232 MIM:612238 susceptibility to isolated scoliosis 4 MIM:612238 MIM:612239 susceptibility to isolated scoliosis 5 MIM:612239 MIM:612251 susceptibility to systemic lupus erythematosus 10 MIM:612251 MIM:612253 susceptibility to systemic lupus erythematosus 11 MIM:612253 MIM:612263 susceptibility to cutaneous malignant melanoma 7 MIM:612263 MIM:612269 susceptibility to childhood absence epilepsy 5 MIM:612269 MIM:612357 major affective disorder 8 MIM:612357 MIM:612371 major affective disorder 7 MIM:612371 MIM:612372 major affective disorder 9 MIM:612372 MIM:612387 susceptibility to sarcoidosis 2 MIM:612387 MIM:612388 susceptibility to sarcoidosis 3 MIM:612388 MIM:612400 osteoarthritis susceptibility 5 MIM:612400 MIM:612401 osteoarthritis susceptibility 6 MIM:612401 MIM:612410 susceptibility to psoriasis 10 MIM:612410 MIM:612551 susceptibility to focal segmental glomerulosclerosis 4 MIM:612551 MIM:612555 susceptibility to familial breast-ovarian cancer 2 MIM:612555 MIM:612589 susceptibility to colorectal cancer 8 MIM:612589 MIM:612590 susceptibility to colorectal cancer 9 MIM:612590 MIM:612591 susceptibility to colorectal cancer 10 MIM:612591 MIM:612592 susceptibility to colorectal cancer 11 MIM:612592 MIM:612853 susceptibility to restless legs syndrome 7 MIM:612853 MIM:612899 susceptibility to idiopathic generalized epilepsy 8 MIM:612899 MIM:612922 susceptibility to atypical hemolytic uremic syndrome 2 MIM:612922 MIM:612923 susceptibility to atypical hemolytic uremic syndrome 3 MIM:612923 MIM:612924 susceptibility to atypical hemolytic uremic syndrome 4 MIM:612924 MIM:612925 susceptibility to atypical hemolytic uremic syndrome 5 MIM:612925 MIM:612926 susceptibility to atypical hemolytic uremic syndrome 6 MIM:612926 MIM:613003 susceptibility to attention deficit-hyperactivity disorder 7 MIM:613003 MIM:613013 susceptibility to neuroblastoma 2 MIM:613013 MIM:613014 susceptibility to neuroblastoma 3 MIM:613014 MIM:613015 susceptibility to neuroblastoma 4 MIM:613015 MIM:613016 susceptibility to neuroblastoma 5 MIM:613016 MIM:613024 susceptibility to follicular lymphoma 1 MIM:613024 MIM:613028 glioma susceptibility 2 MIM:613028 MIM:613029 glioma susceptibility 3 MIM:613029 MIM:613030 glioma susceptibility 5 MIM:613030 MIM:613031 glioma susceptibility 6 MIM:613031 MIM:613032 glioma susceptibility 7 MIM:613032 MIM:613033 glioma susceptibility 8 MIM:613033 MIM:613058 susceptibility to basal cell carcinoma 2 MIM:613058 MIM:613059 susceptibility to basal cell carcinoma 3 MIM:613059 MIM:613060 susceptibility to idiopathic generalized epilepsy 10 MIM:613060 MIM:613061 susceptibility to basal cell carcinoma 4 MIM:613061 MIM:613062 susceptibility to basal cell carcinoma 5 MIM:613062 MIM:613063 susceptibility to basal cell carcinoma 6 MIM:613063 MIM:613067 susceptibility to acute lymphoblastic leukemia 2 MIM:613067 MIM:613099 susceptibility to cutaneous malignant melanoma 5 MIM:613099 MIM:613223 susceptibility to leprosy 5 MIM:613223 MIM:613347 susceptibility to pancreatic cancer 2 MIM:613347 MIM:613348 susceptibility to pancreatic cancer 3 MIM:613348 MIM:613399 susceptibility to familial breast-ovarian cancer 3 MIM:613399 MIM:613410 susceptibility to autism 16 MIM:613410 MIM:613436 susceptibility to autism 17 MIM:613436 MIM:613551 susceptibility to autoimmune disease 6 MIM:613551 MIM:613643 susceptibility to autosomal dominant parkinson disease 5 MIM:613643 MIM:613656 susceptibility to migraine with or without aura 13 MIM:613656 MIM:613711 susceptibility to hirschsprung disease 3 MIM:613711 MIM:613712 susceptibility to hirschsprung disease 4 MIM:613712 MIM:613972 susceptibility to cutaneous malignant melanoma 6 MIM:613972 MIM:614009 susceptibility to platelet-type bleeding disorder 13 MIM:614009 MIM:614070 susceptibility to psoriasis 13 MIM:614070 MIM:614079 susceptibility to aspergillosis MIM:614079 MIM:614090 susceptibility to sick sinus syndrome 3 MIM:614090 MIM:614251 susceptibility to autosomal dominant parkinson disease 18 MIM:614251 MIM:614291 susceptibility to familial breast-ovarian cancer 4 MIM:614291 MIM:614320 susceptibility to pancreatic cancer 4 MIM:614320 MIM:614371 susceptibility to dengue virus MIM:614371 MIM:614456 susceptibility to cutaneous malignant melanoma 8 MIM:614456 MIM:614466 susceptibility to coronary heart disease 6 MIM:614466 MIM:614680 susceptibility to severe influenza MIM:614680 MIM:614740 susceptibility to basal cell carcinoma 7 MIM:614740 MIM:614810 susceptibility to multiple sclerosis 5 MIM:614810 MIM:614847 susceptibility to idiopathic generalized epilepsy 12 MIM:614847 MIM:615032 moved to OMIM phenotype record MIM 615032[LS] obsolete susceptibility to autism 18 true MIM:615032 MIM:615083 susceptibility to colorectal cancer 12 MIM:615083 MIM:615091 susceptibility to autism 19 MIM:615091 MIM:615134 susceptibility to cutaneous malignant melanoma 9 MIM:615134 MIM:615197 susceptibility to restless legs syndrome 8 MIM:615197 MIM:615371 susceptibility to neonatal pulmonary hypertension MIM:615371 MIM:615529 susceptibility to craniosynostosis 5 MIM:615529 MIM:615545 susceptibility to acute lymphoblastic leukemia 3 MIM:615545 MIM:615557 susceptibility to melioidosis MIM:615557 obsolete susceptibility to cutaneous malignant melanoma 10 true MIM:616106 pustular psoriasis susceptibility 15 MIM:616106 MIM:616568 moved by OMIM MIM 616568 to phenotype record[LS] obsolete glioma susceptibility 9 true MIM:616568 MIM:616685 susceptibility to idiopathic generalized epilepsy 14 MIM:616685 MIM:616818 susceptibility to IgA nephropathy 3 MIM:616818 MIM:616871 susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms MIM:616871 MIM:617075 susceptibility to nasopharyngeal carcinoma 3 MIM:617075 MIM:617349 susceptibility to familial thoracic aortic aneurysm 11 MIM:617349 MIM:617892 susceptibility to amyotrophic lateral sclerosis 24 MIM:617892 MIM:617921 susceptibility to amyotrophic lateral sclerosis 25 MIM:617921 MIM:618231 susceptibility to epidermodysplasia verruciformis 2 MIM:618231 MIM:618267 susceptibility to epidermodysplasia verruciformis 3 MIM:618267 obsolete susceptibility to epidermodysplasia verruciformis 4 true obsolete susceptibility to epidermodysplasia verruciformis 5 true MIM:618357 susceptibility to idiopathic generalized epilepsy 15 MIM:618357 MIM:618596 susceptibility to idiopathic generalized epilepsy 16 MIM:618596 MIM:619491 susceptibility to autosomal dominant Parkinson disease 24 MIM:619491 MIM:619521 susceptibility to idiopathic generalized epilepsy 18 MIM:619521 MIM:620442 susceptibility to familial breast-ovarian cancer 5 MIM:620442 MIM:620923 susceptibility to autosomal dominant Parkinson disease 26 MIM:620923 MIM:621064 susceptibility to idiopathic generalized epilepsy 19 MIM:621064 NCBITaxon:1 ncbitaxon NCBITaxon:1 Benincaseae Muridae Mus <genus> NCBITaxon:10090 Mus musculus Rattus NCBITaxon:10116 Rattus norvegicus Apodemus NCBITaxon:10239 Viruses Poxviridae Chordopoxvirinae Orthopoxvirus NCBITaxon:10243 Cowpox virus NCBITaxon:10244 Monkeypox virus NCBITaxon:10245 Vaccinia virus NCBITaxon:10255 Variola virus Parapoxvirus NCBITaxon:10258 Orf virus Molluscipoxvirus NCBITaxon:10279 Molluscum contagiosum virus Alphaherpesvirinae Simplexvirus Human alphaherpesvirus 1 Human alphaherpesvirus 2 Varicellovirus Human alphaherpesvirus 3 Betaherpesvirinae Cytomegalovirus Human betaherpesvirus 5 NCBITaxon:10368 Human betaherpesvirus 6 Human betaherpesvirus 7 Gammaherpesvirinae Lymphocryptovirus human gammaherpesvirus 4 Rhadinovirus Hepadnaviridae Orthohepadnavirus NCBITaxon:10407 Hepatitis B virus Adenoviridae Mastadenovirus NCBITaxon:10519 Human adenovirus 7 Aedini canis group phagocytophilum group JC polyomavirus Parvoviridae Human parvovirus B19 Human mastadenovirus B Coltivirus Togaviridae Alphavirus NCBITaxon:11020 Barmah Forest virus NCBITaxon:11021 Eastern equine encephalitis virus NCBITaxon:11029 Ross River virus NCBITaxon:11036 Venezuelan equine encephalitis virus NCBITaxon:11039 Western equine encephalitis virus Rubivirus Rubella virus Flaviviridae dengue virus type 1 Japanese encephalitis virus NCBITaxon:11077 Kunjin virus Murray Valley encephalitis virus St. Louis encephalitis virus West Nile virus Powassan virus Tick-borne encephalitis virus Louping ill virus Yellow fever virus Hepacivirus NCBITaxon:11118 Coronaviridae Chlamydia/Chlamydophila group Penaeoidea pseudomallei group Mononegavirales Paramyxoviridae Fungi incertae sedis Morbillivirus Measles morbillivirus Pneumoviridae human respiratory syncytial virus Filoviridae Rhabdoviridae NCBITaxon:11286 Lyssavirus Lyssavirus rabies Leptotrichiaceae Orthomyxoviridae Aspergillaceae Influenza A virus spotted fever group typhus group Influenza C virus Orthobunyavirus La Crosse virus Phlebovirus Rift Valley fever virus NCBITaxon:11617 Arenaviridae Retroviridae Lentivirus Primate lentivirus group Eubrachyura Heterotremata NCBITaxon:11676 Human immunodeficiency virus 1 Troglotremata NCBITaxon:11709 Human immunodeficiency virus 2 NCBITaxon:1173061 Geotrichum candidum Teleostomi Euteleostomi Oropouche virus Brucellaceae Coxiellaceae Legionellales Burkholderiaceae NCBITaxon:11908 Human T-cell leukemia virus type I Enoplea Chromadorea Trichuridae NCBITaxon:119095 Capillaria Gnathostomatidae Protomacleaya Picornaviridae Enterovirus Coxsackievirus Ecdysozoa Lophotrochozoa Mycobacterium avium complex (MAC) NCBITaxon:12080 Poliovirus 1 NCBITaxon:12083 Poliovirus 2 NCBITaxon:12086 Poliovirus 3 NCBITaxon:12089 Coxsackievirus A24 NCBITaxon:12090 enterovirus D70 Hepatovirus NCBITaxon:12092 Hepatovirus A Pediculidae Pediculus NCBITaxon:121224 Pediculus humanus corporis NCBITaxon:121225 Pediculus humanus Lacazia NCBITaxon:121752 Lacazia loboi NCBITaxon:121759 Paracoccidioides brasiliensis Pseudomonadota Diphyllobothriidea Curvularia hawaiiensis Neoteleostei Eurypterygia Ctenosquamata Acanthomorphata Gammaproteobacteria Bacillota Borna disease virus Hepatitis delta virus Omsk hemorrhagic fever virus Tabanoidea Dengue virus NCBITaxon:127007 Rhipicephalus pumilio NCBITaxon:12721 Human immunodeficiency virus Staphylococcus NCBITaxon:1280 Staphylococcus aureus Conoidasida Leishmaniinae Erysipelotrichaceae unclassified sequences Pulicoidea Anemia NCBITaxon:129726 Pseudocowpox virus Streptococcaceae Streptococcus Streptophytina NCBITaxon:1313 Streptococcus pneumoniae NCBITaxon:1314 Streptococcus pyogenes cellular organisms Phlebotomus <genus> Archelosauria Batillus NCBITaxon:1335626 Middle East respiratory syndrome-related coronavirus Burkholderia mallei Dipnotetrapodomorpha Penaeus Capnodiales NCBITaxon:134742 Sigmodon alstoni Vibrionales Pasteurellales Spirochaetales NCBITaxon:137207 Oligoryzomys longicaudatus NCBITaxon:138 Borrelia Bacillales Bacillus <firmicutes> NCBITaxon:138948 Enterovirus A NCBITaxon:138949 Enterovirus B Enterovirus C Enterovirus D NCBITaxon:139 Borreliella burgdorferi NCBITaxon:1392 Bacillus anthracis NCBITaxon:140438 Aedes japonicus NCBITaxon:140564 Ornithodoros parkeri Pulicomorpha Boreoeutheria Mesangiospermae Petrosaviidae Pentapetalae Dorylaimia Pooideae Poeae Saccharomycotina Pezizomycotina Dothideomycetes Eurotiomycetes Sordariomycetes Pneumocystomycetes Piedraiaceae Piedraia Piedraia hortae Clostridium Osteoglossocephalai Euteleosteomorpha Paracanthopterygii Zeiogadaria Gadariae Gadoidei Clostridium botulinum NCBITaxon:1502 Clostridium perfringens NCBITaxon:1513 Clostridium tetani Papillomaviridae Polyomaviridae Polypodiidae <ferns> Deltaretrovirus Candida/Lodderomyces clade Malasseziomycetes Galloanserae Tremellomycetes Treponema Saccotheciaceae Zygodontomys NCBITaxon:157541 Zygodontomys brevicauda Ziziphus mauritiana Onygenales incertae sedis Phleum Phleum pratense Treponema pallidum NCBITaxon:161 Treponema pallidum subsp. pallidum Malasseziales NCBITaxon:162997 Culex annulirostris Xenopsylla NCBITaxon:163159 Xenopsylla cheopis NCBITaxon:1637 Listeria NCBITaxon:1639 Listeria monocytogenes Plasmodiidae Borreliaceae Leptospirales Erysipelothrix NCBITaxon:1648 Erysipelothrix rhusiopathiae Poodae Yersinia pseudotuberculosis complex Poeae Chloroplast Group 2 (Poeae type) Corynebacteriaceae Mammarenavirus Actinomyces NCBITaxon:1655 Actinomyces naeslundii NCBITaxon:1656 Actinomyces viscosus NCBITaxon:1659 Actinomyces israelii NCBITaxon:1660 Schaalia odontolytica NCBITaxon:1678143 Paslahepevirus balayani Coelopidae Coelopinae Coelopellini This Leptospiraceae NCBITaxon:171 Leptospira NCBITaxon:1714619 Orthobornavirus bornaense Borna disease virus 1 Corynebacterium Amygdaloideae NCBITaxon:1717 Corynebacterium diphtheriae NCBITaxon:172148 Alkhumra hemorrhagic fever virus Aurantioideae NCBITaxon:173087 Human papillomavirus types NCBITaxon:1750 Arachnia propionica Trichosporonaceae Actinomycetes Mycobacteriaceae Mycobacterium NCBITaxon:1769 Mycobacterium leprae NCBITaxon:1773 Mycobacterium tuberculosis PVC group Bacillati Bornaviridae NCBITaxon:1809 Mycobacterium ulcerans NCBITaxon:181088 Haemaphysalis flava Trichomonadidae Nocardia Nocardia asteroides Trichosporonales Orthobornavirus Marburgvirus Zaire ebolavirus Sudan ebolavirus Tai Forest ebolavirus Actinopteri Clupeocephala Otophysi Cypriniphysae Otomorpha Clostridia Eubacteriales Bacillaceae Listeriaceae Orthopneumovirus Lactobacillales Betapolyomavirus NCBITaxon:1891762 Betapolyomavirus hominis NCBITaxon:1891763 Betapolyomavirus secuhominis Yersiniaceae Ochlerotatus <genus> Nannizzia Psocodea Campylobacter Primate T-lymphotropic virus 1 Myomorpha NCBITaxon:197 Campylobacter jejuni Pancrustacea Mandibulata NCBITaxon:197911 Alphainfluenzavirus NCBITaxon:197912 Betainfluenzavirus NCBITaxon:197913 Gammainfluenzavirus Bunyavirales Hantaviridae Nairoviridae Peribunyaviridae Phenuiviridae Orthohantavirus NCBITaxon:1980456 Orthohantavirus andesense Orthonairovirus NCBITaxon:2 Bacteria Actinomycetota Rotaliacea Fusobacteriia Fusobacteriales Spirochaetota Spirochaetia Cladosporium cf. cladosporoides Actinomycetales Chlamydiota Chlamydiia Actinomycetaceae NCBITaxon:2060905 Blastomyces parvus Sandfly fever Naples virus Neisseriales Fornicata Spiruromorpha Gnathostomatomorpha Panagrolaimomorpha Strongyloidoidea NCBITaxon:2104 Mycoplasmoides pneumoniae Campylobacterales Vetigastropoda Trochoidea <superfamily> Ortervirales Firstpapillomavirinae NCBITaxon:2169701 Onyong-nyong virus NCBITaxon:2169991 Mammarenavirus juninense Multicrustacea Hypocreomycetidae Sordariomycetidae NCBITaxon:226665 Rickettsia conorii subsp. heilongjiangensis Dibothriocephalus Blastomyces Rhabditina Rhabditomorpha Trochida NCBITaxon:234 Brucella NCBITaxon:235 Brucella abortus Rutaceae Crotonoideae Micrandreae Polypodiopsida Negarnaviricota Haploviricotina Polyploviricotina Monjiviricetes Ellioviricetes Insthoviricetes Cornidovirineae Articulavirales Orthocoronavirinae Merbecovirus Sarbecovirus Schaalia Mansoniini Riboviria Matonaviridae Avulavirinae Mammantavirinae Orthoparamyxovirinae Rubulavirinae Orthoavulavirus Orthorubulavirus avian paramyxovirus 1 Mumps orthorubulavirus Evosea Henipavirus Metamonada Discoba Francisella NCBITaxon:263 Francisella tularensis Rickettsia sibirica subgroup Retaria Mastigamoebida NCBITaxon:2697049 2019-nCoV HCoV-19 Human coronavirus 2019 SARS-2 SARS-CoV-2 SARS2 Wuhan coronavirus Wuhan seafood market pneumonia virus Severe acute respiratory syndrome coronavirus 2 Spiralia Sar Metakinetoplastina Trypanosomatida Citrus Citrus sinensis Aspergillus subgen. Fumigati Cladosporiales Mycosphaerellales Duplodnaviria Monodnaviria Heunggongvirae Peploviricota Herviviricetes Varidnaviria Bamfordvirae Nucleocytoviricota Preplasmiviricota Shotokuvirae Orthornavirae Pararnavirae Duplornaviricota Kitrinoviricota Pisuviricota Artverviricota Cossaviricota Papovaviricetes Quintoviricetes Resentoviricetes Alsuviricetes Flasuviricetes Pisoniviricetes Revtraviricetes Blubervirales Pokkesviricetes Chitovirales Tectiliviricetes Sepolyvirales Zurhausenvirales Piccovirales Reovirales Hepelivirales Martellivirales Amarillovirales Rowavirales Cyprininae Danionidae Danioninae NCBITaxon:27458 Chrysops NCBITaxon:2748762 Colorado tick fever coltivirus unclassified Mycobacterium avium complex (MAC) Talaromyces sect. Talaromyces NCBITaxon:2759 Eukaryota Bovinae Strongyloidea Echinostomata Fasciolidae NCBITaxon:27847 Echinostoma Plagiorchiida unclassified entries Mycoplasmoidales Mycoplasmoidaceae Leptotrombidium NCBITaxon:27973 Encephalitozoon hellem Arachnia Alphaproteobacteria Betaproteobacteria Brucella/Ochrobactrum group sandfly fever Sicilian virus Aleutian mink disease parvovirus Ribozyviria Kolmioviridae Alpharhabdovirinae NCBITaxon:28450 Burkholderia pseudomallei Treponemataceae NCBITaxon:2846071 Rubivirus rubellae Pleosporaceae Trichocomaceae Diphyllobothriidae Salmonella enterica Klebsiella/Raoultella group NCBITaxon:2901879 Severe acute respiratory syndrome coronavirus NCBITaxon:29031 Phlebotomus papatasi Calomys Oligoryzomys Oryzomys Serinales NCBITaxon:29169 Ancylostoma Foraminifera Rotaliida Ammonia Ornithodorinae NCBITaxon:29459 Brucella melitensis NCBITaxon:29461 Brucella suis Spinareoviridae Ensavirinae Heptrevirinae Orthohepevirinae Poodinae Paslahepevirus Phleinae Campylobacterota NCBITaxon:2955291 Alphainfluenzavirus influenzae NCBITaxon:2955935 Gammainfluenzavirus influenzae Ixodoidea Sporothrix Ajellomycetaceae NCBITaxon:29908 Sporothrix schenckii NCBITaxon:29930 Ixodes pacificus Mycobacterium ulcerans group NCBITaxon:299467 Leptotrombidium deliense Mycoplasmoides NCBITaxon:29960 Penaeus indicus Anoplura Epsilonproteobacteria Orthoherpesviridae Orthoebolavirus Orthoflavivirus Orthomarburgvirus NCBITaxon:3046277 Orthoflavivirus flavi NCBITaxon:3048158 Orthoflavivirus japonicum NCBITaxon:3048170 Orthoflavivirus kyasanurense NCBITaxon:3048184 Orthoflavivirus loupingi NCBITaxon:3048215 Orthoflavivirus murrayense NCBITaxon:3048233 Orthoflavivirus omskense NCBITaxon:3048287 Orthoflavivirus powassanense NCBITaxon:3048448 Orthoflavivirus nilense NCBITaxon:3048459 Orthoflavivirus zikaense NCBITaxon:3049954 Orthopneumovirus hominis NCBITaxon:3050292 Simplexvirus humanalpha1 NCBITaxon:3050293 Simplexvirus humanalpha2 NCBITaxon:3050294 Varicellovirus humanalpha3 NCBITaxon:3050295 Cytomegalovirus humanbeta5 NCBITaxon:3050297 Roseolovirus humanbeta6b NCBITaxon:3050298 Roseolovirus humanbeta7 NCBITaxon:3050299 Lymphocryptovirus humangamma4 NCBITaxon:3050300 Rhadinovirus humangamma8 NCBITaxon:3051375 Orthoavulavirus javaense NCBITaxon:3051624 Amdoparvovirus carnivoran1 NCBITaxon:3052189 Erythroparvovirus primate1 NCBITaxon:3052225 Henipavirus nipahense NCBITaxon:3052230 Hepacivirus hominis NCBITaxon:3052299 Mammarenavirus brazilense NCBITaxon:3052302 Mammarenavirus chapareense NCBITaxon:3052303 Mammarenavirus choriomeningitidis NCBITaxon:3052307 Mammarenavirus guanaritoense NCBITaxon:3052310 Mammarenavirus lassaense NCBITaxon:3052314 Mammarenavirus lujoense NCBITaxon:3052317 Mammarenavirus machupoense NCBITaxon:3052331 Mammarenavirus whitewaterense NCBITaxon:3052345 Morbillivirus hominis NCBITaxon:3052409 Orthobunyavirus lacrosseense NCBITaxon:3052429 Orthobunyavirus oropoucheense NCBITaxon:3052458 Orthoebolavirus bundibugyoense NCBITaxon:3052460 Orthoebolavirus sudanense NCBITaxon:3052461 Orthoebolavirus taiense NCBITaxon:3052462 Orthoebolavirus zairense NCBITaxon:3052464 Orthoflavivirus denguei NCBITaxon:3052465 Orthoflavivirus encephalitidis NCBITaxon:3052468 Orthoflavivirus louisense NCBITaxon:3052470 Orthohantavirus bayoui NCBITaxon:3052477 Orthohantavirus dobravaense NCBITaxon:3052480 Orthohantavirus hantanense NCBITaxon:3052489 Orthohantavirus negraense NCBITaxon:3052490 Orthohantavirus nigrorivense NCBITaxon:3052493 Orthohantavirus puumalaense NCBITaxon:3052498 Orthohantavirus seoulense NCBITaxon:3052499 Orthohantavirus sinnombreense NCBITaxon:3052505 Orthomarburgvirus marburgense NCBITaxon:3052518 Orthonairovirus haemorrhagiae NCBITaxon:3052560 Orthorubulavirus parotitidis NCBITaxon:3052666 Phlebovirus napoliense NCBITaxon:3052676 Phlebovirus riftense NCBITaxon:3052681 Phlebovirus siciliaense NCBITaxon:30639 Mastomys Cyprinoidei Hepeviridae Amdoparvovirus Schistosomatoidea Schistosomatidae Laurasiatheria Euarchontoglires Glires NCBITaxon:31704 Coxsackievirus A16 Embryophyta Propionibacteriaceae Clostridiaceae Burkholderia Fusobacteriota Dipodascomycetes Pichiomycetes Dipodascales Teleostei Ostariophysi Tetrapoda Amniota Theria <mammals> Paliureae Sauria Babesiidae Human betaherpesvirus 6B Orthoretrovirinae Coquillettidia Entamoebidae Viridiplantae Opisthokonta Onygenales Onygenaceae Metazoa Bilateria Ascaridoidea Toxocaridae Ancylostomatidae Protostomia Neoptera Paraneoptera Alphapapillomavirus NCBITaxon:333754 Alphapapillomavirus 10 unclassified Papillomaviridae Endopterygota Deuterostomia Alveolata Euglenozoa Kyasanur Forest disease virus Echovirus Cricetidae Muroidea Pseudomonadati Neotominae Fusobacteriati Klebsiella pneumoniae complex Magnoliopsida Rickettsieae Neorickettsia Francisellaceae Streptobacillus NCBITaxon:34105 Streptobacillus moniliformis Dipodascaceae Arthrodermataceae NCBITaxon:34390 Epidermophyton Microsporum Chaetothyriales Troglotrematidae NCBITaxon:34503 Paragonimus NCBITaxon:34607 Amblyomma cajennense NCBITaxon:34608 Amblyomma hebraeum NCBITaxon:34609 Amblyomma maculatum NCBITaxon:34610 Amblyomma variegatum NCBITaxon:34613 Ixodes ricinus NCBITaxon:34615 Ixodes persulcatus NCBITaxon:34619 Dermacentor NCBITaxon:34620 Dermacentor andersoni NCBITaxon:34621 Dermacentor variabilis Haemaphysalis NCBITaxon:34625 Hyalomma Rhipicephalus <genus> NCBITaxon:34632 Rhipicephalus sanguineus Cryptosporidiidae Streptophyta Pecora Hyphomicrobiales NCBITaxon:35788 Rickettsia africae NCBITaxon:35789 Rickettsia helvetica NCBITaxon:35790 Rickettsia japonica NCBITaxon:35792 Rickettsia parkeri NCBITaxon:35793 Rickettsia sibirica BOP clade Rhamnaceae Trichuris NCBITaxon:36087 Trichuris trichiura NCBITaxon:36330 Plasmodium ovale Malpighiales NCBITaxon:36469 prion Cucurbitaceae Cucumis Cucumis melo Prunus armeniaca Unikaryonidae NCBITaxon:36826 Clostridium botulinum A NCBITaxon:36827 Clostridium botulinum B NCBITaxon:36830 Clostridium botulinum E NCBITaxon:36831 Clostridium botulinum F NCBITaxon:36855 Brucella canis NCBITaxon:37020 Oryzomys palustris Trichomonadida NCBITaxon:37124 Chikungunya virus NCBITaxon:37162 Mycobacterium avium complex sp. Human gammaherpesvirus 8 Rosales Rosaceae Malus Malus domestica Prunus Prunus domestica Prunus persica NCBITaxon:37727 Talaromyces marneffei NCBITaxon:37816 Rickettsia honei Pneumocystales NCBITaxon:38323 Bartonella henselae Poales Paracoccidioides NCBITaxon:39030 Apodemus agrarius NCBITaxon:39054 Enterovirus A71 Arvicolinae Murinae Phialophora verrucosa NCBITaxon:39759 Deltavirus Euphorbiaceae Hevea NCBITaxon:3981 Hevea brasiliensis NCBITaxon:39824 Klebsiella granulomatis Sylvaemus group Parvovirinae Erythroparvovirus Sigmodontinae Roseolovirus Fonsecaea Fonsecaea pedrosoi Echinostomatoidea Mammalia Solanales Solanaceae Solanum lycopersicum Solanum Neopterygii Scedosporium Protacanthopterygii Plasmodium (Plasmodium) Plasmodium (Laverania) Ceratopogonidae NCBITaxon:41820 Culicoides <genus> Culicoidea Chironomoidea Psychodoidea Sapindales NCBITaxon:42068 Pneumocystis jirovecii Prunus avium Aconoidasida Eimeriorina Neotoma NCBITaxon:42408 Neotoma albigula Sigmodon NCBITaxon:42415 Sigmodon hispidus Solanoideae Solaneae Rhipicephalinae Hyalomminae Haemaphysalinae Amblyomminae Ixodinae Rhipicephalus <subgenus> NCBITaxon:42862 Rickettsia felis NCBITaxon:43075 Trichomonas tenax unclassified Roseolovirus Herpotrichiellaceae Dinosauria Saurischia Theropoda Coelurosauria Muscomorpha Tabanomorpha Schizophora Acalyptratae Sciomyzoidea Culicomorpha Psychodomorpha Ceratopogoninae Anophelinae Culicinae Chrysopsinae Geotrichum Pneumocystaceae Legionellaceae Liliopsida Legionella Cellia Pyretophorus gambiae species complex Phlebotomus <subgenus> NCBITaxon:446 Legionella pneumophila Myodes NCBITaxon:447135 Myodes glareolus Poaceae Dikarya Taphrinomycotina Dothideomycetidae Pleosporomycetidae Chaetothyriomycetidae Eurotiomycetidae Ustilaginomycotina Cladosporiaceae Capillariidae NCBITaxon:45659 Human adenovirus B3 Picornavirales Colorado tick fever virus commelinids NCBITaxon:47466 Borrelia miyamotoi NCBITaxon:4751 Fungi Pneumocystis Schizotrypanum Xenopsyllinae Cyclorrhapha Eremoneura Neisseriaceae Neisseria NCBITaxon:485 Neisseria gonorrhoeae NCBITaxon:4890 Ascomycota NCBITaxon:49202 Dermacentor marginatus Solanum subgen. Lycopersicon Dothideales NCBITaxon:5039 Blastomyces dermatitidis Eurotiales Salmoninae NCBITaxon:5052 Aspergillus Insecta Alcaligenaceae Talaromyces Necator NCBITaxon:51031 Necator americanus Chlamydiales Ophiostomatales Ophiostomataceae Bordetella NCBITaxon:519 Bordetella parapertussis NCBITaxon:520 Bordetella pertussis Basidiomycota NCBITaxon:523089 Haemaphysalis concinna NCBITaxon:523103 Trichophyton mentagrophytes Erysipelotrichia Erysipelotrichales NCBITaxon:52769 Actinomyces gerencseriae NCBITaxon:52773 Schaalia meyeri Agaricomycotina Ancylostomatinae Bunostominae Culex <subgenus> Stegomyia Finlaya Sabethini Culicini NCBITaxon:53551 Sabethes NCBITaxon:54292 Apodemus flavicollis Enterobacteriaceae Rhizaria Mycoplasmatota NCBITaxon:5475 Candida Herpesvirales NCBITaxon:5498 Cladosporium Coccidioides NCBITaxon:5501 Coccidioides immitis Curvularia Malassezia Malassezia furfur Metastrongylidae Amoebozoa NCBITaxon:5550 Trichophyton NCBITaxon:5552 Trichosporon Trichosporon beigelii Archamoebae unclassified Bornaviridae NCBITaxon:5579 Aureobasidium Exophiala Rhinocladiella Microascales Microascaceae NCBITaxon:5597 Scedosporium boydii NCBITaxon:5598 Alternaria NCBITaxon:5600 Phialophora NCBITaxon:56210 Calomys callosus NCBITaxon:56211 Calomys laucha NCBITaxon:56212 Calomys musculinus NCBITaxon:56426 Bartonella clarridgeiae Kinetoplastea Trypanosomatidae NCBITaxon:5658 Leishmania <genus> Bundibugyo virus NCBITaxon:5690 Trypanosoma NCBITaxon:5693 Trypanosoma cruzi Klebsiella Parabasalia NCBITaxon:5721 Trichomonas NCBITaxon:5722 Trichomonas vaginalis NCBITaxon:573 Klebsiella pneumoniae Diplomonadida Hexamitidae Giardia NCBITaxon:5741 Giardia intestinalis Entamoeba NCBITaxon:5759 Entamoeba histolytica Rhipicephalus sanguineus group Apicomplexa Coccidia Tracheophyta Spermatophyta NCBITaxon:5806 Cryptosporidium Sarcocystidae Toxoplasma NCBITaxon:5811 Toxoplasma gondii Haemosporida NCBITaxon:5820 Plasmodium Culicoidini NCBITaxon:5833 Plasmodium falciparum NCBITaxon:5855 Plasmodium vivax Piroplasmida NCBITaxon:5864 Babesia NCBITaxon:58839 Encephalitozoon intestinalis Salmonella Myzomyia funestus group NCBITaxon:59201 Salmonella enterica subsp. enterica NCBITaxon:5970 Exophiala dermatitidis Chrysopsini Portuninae NCBITaxon:6029 Microsporidia Apansporoblastina Encephalitozoon NCBITaxon:6035 Encephalitozoon cuniculi NCBITaxon:60516 Dibothriocephalus latus Eumetazoa Gnathostomatoidea NCBITaxon:61463 Gnathostoma Platyhelminthes Trematoda Digenea <flatworms> Strigeidida NCBITaxon:6181 Schistosoma NCBITaxon:6191 Fasciola Opisthorchiida Opisthorchiata Opisthorchiidae NCBITaxon:6197 Opisthorchis Cestoda Shigella Eucestoda Cyclophyllidea Taenia NCBITaxon:6204 Taenia solium NCBITaxon:6206 Taenia saginata Taeniidae NCBITaxon:6209 Echinococcus Shigella boydii Hymenolepididae NCBITaxon:6215 Hymenolepis <flatworms> Shigella dysenteriae Shigella flexneri Nematoda NCBITaxon:62324 Anopheles funestus Rhabditida Shigella sonnei Strongyloididae Strongyloides NCBITaxon:6248 Strongyloides stercoralis Ascaridomorpha Ascarididae NCBITaxon:6251 Ascaris NCBITaxon:6264 Toxocara Anisakidae Anisakis NCBITaxon:6269 Anisakis simplex Pseudoterranova NCBITaxon:6271 Pseudoterranova decipiens Spirurina Onchocerca NCBITaxon:6282 Onchocerca volvulus Yersinia <enterobacteria> NCBITaxon:6295 Filarioidea Onchocercidae Tylenchina NCBITaxon:6312 Angiostrongylus NCBITaxon:632 Yersinia pestis Trichinellida Trichinellidae NCBITaxon:6333 Trichinella Nannizzia gypsea Microsporum canis NCBITaxon:63417 Trichophyton verrucosum NCBITaxon:63418 Trichophyton equinum NCBITaxon:63419 Trichophyton concentricum Turbinidae Turbo NCBITaxon:63673 Turbo cornutus Vibrionaceae NCBITaxon:6447 Mollusca Anisakis simplex complex Gastropoda Borreliella NCBITaxon:65647 Ixodes holocyclus Vibrio NCBITaxon:66225 Phaeoannellomyces Arthropoda NCBITaxon:6657 Crustacea NCBITaxon:666 Vibrio cholerae Malacostraca Eucarida Decapoda Dendrobranchiata Penaeidae Teratosphaeriaceae NCBITaxon:6687 Penaeus monodon NCBITaxon:6689 Penaeus vannamei NCBITaxon:6690 Penaeus aztecus Pleocyemata Brachyura Portunidae Scylla Portunoidea Chelicerata Giardiinae Arachnida Rotaliidae Acari Parasitiformes Ixodida Argasidae unclassified Primate lentivirus group Ornithodoros Schizaeales Anemiaceae Ixodidae Betacoronavirus Severe acute respiratory syndrome-related coronavirus Amblyomma NCBITaxon:6943 Amblyomma americanum NCBITaxon:6944 Ixodes NCBITaxon:6945 Ixodes scapularis Acariformes Prostigmata Orientia An allergen that is an American house dust mite, microscopic, insect-like pests that commonly live in house dust. They feed on flakes of dead skin, or dander, that are shed by people and pets. These tiny creatures are a big source of allergens and can worsen allergies and asthma. Dust mites can live in mattresses, bedding, upholstered furniture, carpets, and curtains in your home. OMIT:0022964 Dermatophagoides farinae NCBITaxon:6954 American house dust mite NCBITaxon:6954 An allergen that is an American house dust mite, microscopic, insect-like pests that commonly live in house dust. They feed on flakes of dead skin, or dander, that are shed by people and pets. These tiny creatures are a big source of allergens and can worsen allergies and asthma. Dust mites can live in mattresses, bedding, upholstered furniture, carpets, and curtains in your home. url:https://www.niehs.nih.gov/health/topics/agents/allergens/dustmites/index.cfm An allergen that is an European house dust mite, microscopic, insect-like pests that commonly live in house dust. They feed on flakes of dead skin, or dander, that are shed by people and pets. These tiny creatures are a big source of allergens and can worsen allergies and asthma. Dust mites can live in mattresses, bedding, upholstered furniture, carpets, and curtains in your home. NCBITaxon:6956 European house dust mite NCBITaxon:6956 An allergen that is an European house dust mite, microscopic, insect-like pests that commonly live in house dust. They feed on flakes of dead skin, or dander, that are shed by people and pets. These tiny creatures are a big source of allergens and can worsen allergies and asthma. Dust mites can live in mattresses, bedding, upholstered furniture, carpets, and curtains in your home. url:https://www.niehs.nih.gov/health/topics/agents/allergens/dustmites/index.cfm Hexapoda NCBITaxon:69826 Ornithodoros savignyi Pasteurellaceae Cucurbitales eudicotyledons asterids rosids Actinobacillus Diptera Nematocera Pleosporineae Culicidae NCBITaxon:7158 Aedes <genus> dothideomyceta sordariomyceta NCBITaxon:7160 Aedes albopictus NCBITaxon:7162 Ochlerotatus triseriatus NCBITaxon:7164 Anopheles <genus> NCBITaxon:7165 Anopheles gambiae saccharomyceta leotiomyceta NCBITaxon:7174 Culex <genus> NCBITaxon:7178 Culex tritaeniorhynchus NCBITaxon:7180 Haemagogus <genus> Psychodidae Phlebotominae Brachycera Eumalacostraca Tabanidae Ziziphus Amygdaleae Maleae Thiotrichales Campylobacteraceae NCBITaxon:723 Actinobacillus ureae Haemophilus NCBITaxon:730 [Haemophilus] ducreyi Emmonsia NCBITaxon:73230 Emmonsia crescens Malasseziaceae Pasteurella Aspergillus fumigatus NCBITaxon:747 Pasteurella multocida Pterygota <insects> Siphonaptera Pulicidae Eucoccidiorida Rickettsiales Debaryomycetaceae Anaplasma Nidovirales Chordata Bartonellaceae Bartonella NCBITaxon:774 Bartonella bacilliformis Vertebrata <vertebrates> Rickettsiaceae Coxiella <g-proteobacteria> Mycobacterium tuberculosis complex Coxiella burnetii Gnathostomata <vertebrates> NCBITaxon:780 Rickettsia NCBITaxon:781 Rickettsia conorii NCBITaxon:782 Rickettsia prowazekii NCBITaxon:783 Rickettsia rickettsii NCBITaxon:784 Orientia tsutsugamushi NCBITaxon:785 Rickettsia typhi Euphyllophyta NCBITaxon:786 Rickettsia akari NCBITaxon:787 Rickettsia australis NCBITaxon:7898 Actinopterygii Cypriniformes Cyprinidae Danio NCBITaxon:7955 Danio rerio Cyprinus Cyprinus carpio Clonorchis NCBITaxon:79923 Clonorchis sinensis Salmoniformes Salmonidae Oncorhynchus NCBITaxon:8022 Oncorhynchus mykiss Salmo NCBITaxon:803 Bartonella quintana NCBITaxon:8030 Salmo salar Gadiformes Gadidae Gadus NCBITaxon:8049 Gadus morhua Burkholderiales Chlamydiaceae Chlamydia NCBITaxon:813 Chlamydia trachomatis Cladophialophora Sarcopterygii Trombidiformes Anystina Parasitengona NCBITaxon:83554 Chlamydia psittaci NCBITaxon:83558 Chlamydia pneumoniae Sauropsida Archosauria Mycobacteriales Propionibacteriales Nocardiaceae Dicondylia NCBITaxon:85552 Scylla paramamosain Phthiraptera Cladophialophora carrionii NCBITaxon:86056 Rhinocladiella mackenziei Fonsecaea compacta Mus <subgenus> Bacillus cereus group Aves NCBITaxon:87882 Burkholderia cepacia complex Neognathae Panarthropoda Craniata <chordates> Galliformes NCBITaxon:89940 Cladophialophora bantiana unclassified Enterovirus Phasianidae Gallus Gallus gallus Phasianinae Staphylococcaceae Bacilli Enterobacterales NCBITaxon:91493 Exserohilum Artiodactyla Gunneridae fabids malvids lamiids Hortaea Hortaea werneckii Trombiculoidea Trombiculidae Pleosporales Eutheria Anaplasmataceae Ehrlichia NCBITaxon:945 Ehrlichia chaffeensis NCBITaxon:948 Anaplasma phagocytophilum NCBITaxon:951 Neorickettsia sennetsu Ruminantia Bovidae Bos Bos taurus Capra Capra hircus Caprinae Echinostomatidae Rodentia The material discharged from the bowel during defecation. It consists of undigested food, intestinal mucus, epithelial cells, and bacteria. NCIT:C13234 feces NCIT:C13234 The material discharged from the bowel during defecation. It consists of undigested food, intestinal mucus, epithelial cells, and bacteria. url:https://nchh.org/information-and-evidence/learn-about-healthy-housing/health-hazards-prevention-and-solutions/rodents/ A biological agent that is a microorganism, including bacteria, viruses, or fungi. A microscopic organism. The term microorganism may refer to a prokaryote or eukaryote, and may be a unicellular or multicellular organism. All taxonomic kingdoms contain microorganisms. NCIT:C14329 microorganism NCIT:C14329 A biological agent that is a microorganism, including bacteria, viruses, or fungi. A microscopic organism. The term microorganism may refer to a prokaryote or eukaryote, and may be a unicellular or multicellular organism. All taxonomic kingdoms contain microorganisms. url:https://www.osha.gov/biological-agents A choline that is the parent compound of the cholines class, consisting of ethanolamine having three methyl substituents attached to the amino function. CHEBI:15354 choline CHEBI:15354 A choline that is the parent compound of the cholines class, consisting of ethanolamine having three methyl substituents attached to the amino function. url:https://ods.od.nih.gov/factsheets/Choline-HealthProfessional/ A biological toxin that is botulinum toxin, caused by a toxin made by a bacterium called Clostridium botulinum. FBbi:00000465 NCIT:C163032 botulinum toxin NCIT:C163032 A biological toxin that is botulinum toxin, caused by a toxin made by a bacterium called Clostridium botulinum. url:https://www.osha.gov/botulism A very large group of microscopic fungi that live on plant or animal matter. Most are filamentous organisms and produce spores that can be air-, water-, or insect-borne. NCIT:C28266 mold NCIT:C28266 A very large group of microscopic fungi that live on plant or animal matter. Most are filamentous organisms and produce spores that can be air-, water-, or insect-borne. url:https://www.niehs.nih.gov/health/topics/agents/mold/index.cfm A dibenzoazepine that is 5H-dibenzo[b,f]azepine carrying a carbamoyl substituent at the azepine nitrogen, used as an anticonvulsant. CHEBI:3387 carbamazepine CHEBI:3387 A dibenzoazepine that is 5H-dibenzo[b,f]azepine carrying a carbamoyl substituent at the azepine nitrogen, used as an anticonvulsant. url:https://en.wikipedia.org/wiki/Carbamazepine url:https://pubmed.ncbi.nlm.nih.gov/26329145/ An element with atomic symbol Cu, atomic number 29, and atomic weight 63. NCIT:C391 copper NCIT:C391 An element with atomic symbol Cu, atomic number 29, and atomic weight 63. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5637704/ A highly corrosive, inorganic substance that contains the metallic element chromium in its positive-6 valence state. Chromium hexavalent compounds are used in stainless steel production, in chrome plating, in the manufacture of dyes and pigments, in leather tanning, in wood preservation and are used as corrosion inhibitors. Inhalation exposure of these compounds mainly affects the respiratory tract causing shortness of breath, nasal itching, asthma, coughing, bronchitis and pneumonia, but can also affect the liver, kidneys, gastrointestinal tract and the immune system. Chromium hexavalent compounds are carcinogenic in humans and are associated with an increased risk of developing lung cancer and cancer of the sinonasal cavity. NCIT:C44357 chromium hexavalent compound NCIT:C44357 A highly corrosive, inorganic substance that contains the metallic element chromium in its positive-6 valence state. Chromium hexavalent compounds are used in stainless steel production, in chrome plating, in the manufacture of dyes and pigments, in leather tanning, in wood preservation and are used as corrosion inhibitors. Inhalation exposure of these compounds mainly affects the respiratory tract causing shortness of breath, nasal itching, asthma, coughing, bronchitis and pneumonia, but can also affect the liver, kidneys, gastrointestinal tract and the immune system. Chromium hexavalent compounds are carcinogenic in humans and are associated with an increased risk of developing lung cancer and cancer of the sinonasal cavity. url:https://www.niehs.nih.gov/health/topics/agents/hex-chromium/index.cf An element that is necessary for the body to make thyroid hormone. It is found in shellfish and iodized salt. CHEBI:24859 NCIT:C594 iodine NCIT:C594 An element that is necessary for the body to make thyroid hormone. It is found in shellfish and iodized salt. url:https://ods.od.nih.gov/factsheets/Iodine-HealthProfessional/ An important mineral the body needs to make hemoglobin, a substance in the blood that carries oxygen from the lungs to tissues throughout the body. Iron is also an important part of many other proteins and enzymes needed by the body for normal growth and development. It is found in red meat, fish, poultry, lentils, beans, and foods with iron added, such as cereal. CHEBI:18248 NCIT:C598 iron NCIT:C598 An important mineral the body needs to make hemoglobin, a substance in the blood that carries oxygen from the lungs to tissues throughout the body. Iron is also an important part of many other proteins and enzymes needed by the body for normal growth and development. It is found in red meat, fish, poultry, lentils, beans, and foods with iron added, such as cereal. url:https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/iron-deficiency-adults A chemical driver that is accutane (retinoic acid), a medication primarily used to treat severe acne. Isotretinoin NCIT:C603 accutane NCIT:C603 A chemical driver that is accutane (retinoic acid), a medication primarily used to treat severe acne. url:https://www.accessdata.fda.gov/drugsatfda_docs/label/2008/018662s059lbl.pdf A water-soluble vitamin belonging to the vitamin B family, which occurs in many animal and plant tissues, with antihyperlipidemic activity. Niacin is converted to its active form niacinamide, which is a component of the coenzymes nicotinamide adenine dinucleotide (NAD) and its phosphate form, NADP. These coenzymes play an important role in tissue respiration and in glycogen, lipid, amino acid, protein, and purine metabolism. Although the exact mechanism of action by which niacin lowers cholesterol is not fully understood, it may act by inhibiting the synthesis of very low density lipoproteins (VLDL), inhibiting the release of free fatty acids from adipose tissue, increasing lipoprotein lipase activity, and reducing the hepatic synthesis of VLDL-C and LDL-C. NCIT:C689 niacin NCIT:C689 A water-soluble vitamin belonging to the vitamin B family, which occurs in many animal and plant tissues, with antihyperlipidemic activity. Niacin is converted to its active form niacinamide, which is a component of the coenzymes nicotinamide adenine dinucleotide (NAD) and its phosphate form, NADP. These coenzymes play an important role in tissue respiration and in glycogen, lipid, amino acid, protein, and purine metabolism. Although the exact mechanism of action by which niacin lowers cholesterol is not fully understood, it may act by inhibiting the synthesis of very low density lipoproteins (VLDL), inhibiting the release of free fatty acids from adipose tissue, increasing lipoprotein lipase activity, and reducing the hepatic synthesis of VLDL-C and LDL-C. url:https://www.ncbi.nlm.nih.gov/books/NBK557728/ The male genetic material of a seed plant contained in the anther, usually appearing as fine grains or dust. BTO:0001097 NCIT:C79660 NCIT:C79660 pollen NCIT:C79660 The male genetic material of a seed plant contained in the anther, usually appearing as fine grains or dust. url:https://www.niehs.nih.gov/health/topics/agents/allergens/pollen/index.cfm A phytotoxin and lectin comprised of a homodimer of ricin toxin A and B chains derived from the seeds of Ricinus communis, the castor oil plant, with protein synthesis inhibitory activity and extremely high cytotoxicity. Following ingestion, inhalation or injection of ricin, the B chain binds to complex carbohydrates containing either terminal N-acetylgalactosamine or beta-1,4-linked galactose residues on the surface of cells. Subsequently, the ricin A/B heterodimer is internalized and undergoes retrograde transport to the endoplasmic reticulum (ER). In the ER, the A chain, which has enzymatic activity that is sterically hindered by the B chain, is proteolytically released from the heterodimer by protein disulfide isomerase. In the ER, the free A chain has N-glycosidase activity that cleaves 28S rRNA. This enzymatic cleavage disrupts the ribosome, halts protein synthesis, and can lead to cell death. The extreme cytotoxicity of ricin makes it an attractive candidate for artificial fusion with binding proteins to create cell-type-specific toxins. OMIT:0013190 NCIT:C809 ricin toxin NCIT:C809 A phytotoxin and lectin comprised of a homodimer of ricin toxin A and B chains derived from the seeds of Ricinus communis, the castor oil plant, with protein synthesis inhibitory activity and extremely high cytotoxicity. Following ingestion, inhalation or injection of ricin, the B chain binds to complex carbohydrates containing either terminal N-acetylgalactosamine or beta-1,4-linked galactose residues on the surface of cells. Subsequently, the ricin A/B heterodimer is internalized and undergoes retrograde transport to the endoplasmic reticulum (ER). In the ER, the A chain, which has enzymatic activity that is sterically hindered by the B chain, is proteolytically released from the heterodimer by protein disulfide isomerase. In the ER, the free A chain has N-glycosidase activity that cleaves 28S rRNA. This enzymatic cleavage disrupts the ribosome, halts protein synthesis, and can lead to cell death. The extreme cytotoxicity of ricin makes it an attractive candidate for artificial fusion with binding proteins to create cell-type-specific toxins. url:https://www.osha.gov/ricin Any natural or synthetic composition that replicates the structure or function of a native component of blood. NCIT:C81304 blood product NCIT:C81304 Any natural or synthetic composition that replicates the structure or function of a native component of blood. url:https://www.ncbi.nlm.nih.gov/books/NBK539826/ Smoke from burning tobacco (cigarettes, cigars, or pipes) and exhaled by a smoker. Tobacco smoke contains nicotine, a stimulant, and other biologically active chemicals having carcinogenic properties. NCIT:C829 tobacco smoke NCIT:C829 Smoke from burning tobacco (cigarettes, cigars, or pipes) and exhaled by a smoker. Tobacco smoke contains nicotine, a stimulant, and other biologically active chemicals having carcinogenic properties. url:https://www.cdc.gov/tobacco/data_statistics/fact_sheets/health_effects/effects_cig_smoking/index.htm url:https://www.ncbi.nlm.nih.gov/pubmed/26043318 url:https://www.niehs.nih.gov/health/topics/agents/allergens/smoke/index.cfm The term "vitamin K" refers to a group of chemically similar fat-soluble compounds called naphthoquinones: vitamin K1 (phytonadione) is found in plants and is the primary source of vitamin K for humans through dietary consumption, vitamin K2 compounds (menaquinones) are made by bacteria in the human gut, and vitamin K3 (menadione) is a water-soluble preparation available for adults only. Vitamin K is necessary for the liver to produce the coagulation factors II, VII, IX, and X, as well as the clotting factors protein C, protein S, and protein Z; vitamin K deficiency can result in deficiencies of these coagulation factors and excess bleeding. An injection of vitamin K is routinely given to newborn infants to prevent vitamin K deficiency bleeding, also known as hemorrhagic disease of the newborn. Vitamin K deficiency is rare in adults but may result from chronic malnutrition or an inability to absorb dietary vitamins. CHEBI:28384 NCIT:C943 vitamin K NCIT:C943 The term "vitamin K" refers to a group of chemically similar fat-soluble compounds called naphthoquinones: vitamin K1 (phytonadione) is found in plants and is the primary source of vitamin K for humans through dietary consumption, vitamin K2 compounds (menaquinones) are made by bacteria in the human gut, and vitamin K3 (menadione) is a water-soluble preparation available for adults only. Vitamin K is necessary for the liver to produce the coagulation factors II, VII, IX, and X, as well as the clotting factors protein C, protein S, and protein Z; vitamin K deficiency can result in deficiencies of these coagulation factors and excess bleeding. An injection of vitamin K is routinely given to newborn infants to prevent vitamin K deficiency bleeding, also known as hemorrhagic disease of the newborn. Vitamin K deficiency is rare in adults but may result from chronic malnutrition or an inability to absorb dietary vitamins. url:https://www.ncbi.nlm.nih.gov/books/NBK536983/ A chemical driver that is air pollution, that is composed of a mixture of chemical and particulate matter pollutants in outdoor air, including but not limited to carbon monoxide, ozone, sulfur dixoide, nitrogen dioxide, lead, and fine partiuculate matter. Vehicle emissions, fuel oils and natural gas to heat homes, by-products of manufacturing and power generation, particularly coal-fueled power plants, and fumes from chemical production are the primary sources of human-made air pollution. A pollution process during which particulates or other contaminants are released into a portion of air. ENVO:02500037 OMIT:0001823 air pollution OMIT:0001823 A chemical driver that is air pollution, that is composed of a mixture of chemical and particulate matter pollutants in outdoor air, including but not limited to carbon monoxide, ozone, sulfur dixoide, nitrogen dioxide, lead, and fine partiuculate matter. Vehicle emissions, fuel oils and natural gas to heat homes, by-products of manufacturing and power generation, particularly coal-fueled power plants, and fumes from chemical production are the primary sources of human-made air pollution. A pollution process during which particulates or other contaminants are released into a portion of air. url:https://www.epa.gov/clean-air-act-overview/air-pollution-current-and-future-challenges url:https://www.niehs.nih.gov/health/topics/agents/air-pollution/index.cfm An allergen that is a cockroach, a source of indoor allergens. NCBITaxon:85823 OMIT:0004368 cockroaches OMIT:0004368 An allergen that is a cockroach, a source of indoor allergens. url:https://www.niehs.nih.gov/health/topics/agents/allergens/dustmites/index.cfm An endocrine disruptor that is dioxin, are mainly byproducts of industrial practices. They are produced through a variety of incineration processes, including improper municipal waste incineration and burning of trash, and can be released into the air during natural processes, such as forest fires and volcanoes. NCIT:C442 OMIT:0005411 dioxin OMIT:0005411 An endocrine disruptor that is dioxin, are mainly byproducts of industrial practices. They are produced through a variety of incineration processes, including improper municipal waste incineration and burning of trash, and can be released into the air during natural processes, such as forest fires and volcanoes. url:https://www.niehs.nih.gov/health/topics/agents/dioxins/index.cfm An allergen that is dander, may trigger allergy symptoms like sneezing or red, itchy eyes. Pet dander, the source of allergens, is composed of tiny, even microscopic, proteins from flecks of skin shed by pets. OMIT:0028282 dander OMIT:0028282 An allergen that is dander, may trigger allergy symptoms like sneezing or red, itchy eyes. Pet dander, the source of allergens, is composed of tiny, even microscopic, proteins from flecks of skin shed by pets. url:https://www.niehs.nih.gov/health/topics/agents/allergens/pets/index.cfm SO:0000110 SO:0000110 sequence_feature SO:0000110 SO:0000135 SO:0000135 maternally_imprinted SO:0000135 SO:0000159 SO:0000159 deletion SO:0000159 SO:0000199 SO:0000199 translocation SO:0000199 SO:0000240 chromosome_variation SO:0000240 SO:0000340 SO:0000340 chromosome SO:0000340 SO:0000400 SO:0000400 sequence_attribute SO:0000400 SO:0000704 SO:0000704 gene SO:0000704 SO:0001017 silent_mutation SO:0001017 SO:0001059 sequence_alteration SO:0001059 SO:0001060 SO:0001060 sequence_variant SO:0001060 SO:0001260 SO:0001260 sequence_collection SO:0001260 SO:0001411 biological_region SO:0001411 SO:0001536 functional_effect_variant SO:0001536 SO:0001537 SO:0001537 structural_variant SO:0001537 SO:0001538 transcript_function_variant SO:0001538 SO:0001539 translational_product_function_variant SO:0001539 SO:0001540 level_of_transcript_variant SO:0001540 SO:0001541 decreased_transcript_level_variant SO:0001541 SO:0001542 increased_transcript_level_variant SO:0001542 SO:0001543 transcript_processing_variant SO:0001543 SO:0001544 editing_variant SO:0001544 SO:0001545 polyadenylation_variant SO:0001545 SO:0001546 transcript_stability_variant SO:0001546 SO:0001547 decreased_transcript_stability_variant SO:0001547 SO:0001548 increased_transcript_stability_variant SO:0001548 SO:0001549 transcription_variant SO:0001549 SO:0001550 rate_of_transcription_variant SO:0001550 SO:0001551 increased_transcription_rate_variant SO:0001551 SO:0001552 decreased_transcription_rate_variant SO:0001552 SO:0001553 translational_product_level_variant SO:0001553 SO:0001554 polypeptide_function_variant SO:0001554 SO:0001555 decreased_translational_product_level SO:0001555 SO:0001556 increased_translational_product_level SO:0001556 SO:0001557 polypeptide_gain_of_function_variant SO:0001557 SO:0001558 polypeptide_localization_variant SO:0001558 SO:0001559 polypeptide_loss_of_function_variant SO:0001559 SO:0001560 inactive_ligand_binding_site SO:0001560 SO:0001561 polypeptide_partial_loss_of_function SO:0001561 SO:0001562 polypeptide_post_translational_processing_variant SO:0001562 SO:0001563 copy_number_change SO:0001563 SO:0001564 gene_variant SO:0001564 SO:0001565 SO:0001565 gene_fusion SO:0001565 SO:0001566 regulatory_region_variant SO:0001566 SO:0001567 stop_retained_variant SO:0001567 SO:0001568 splicing_variant SO:0001568 SO:0001569 cryptic_splice_site_variant SO:0001569 SO:0001570 cryptic_splice_acceptor SO:0001570 SO:0001571 cryptic_splice_donor SO:0001571 SO:0001572 exon_loss_variant SO:0001572 SO:0001573 intron_gain_variant SO:0001573 SO:0001574 splice_acceptor_variant SO:0001574 SO:0001575 splice_donor_variant SO:0001575 SO:0001576 transcript_variant SO:0001576 SO:0001577 complex_transcript_variant SO:0001577 SO:0001578 stop_lost SO:0001578 SO:0001580 coding_sequence_variant SO:0001580 SO:0001582 initiator_codon_variant SO:0001582 SO:0001583 missense_variant SO:0001583 SO:0001585 conservative_missense_variant SO:0001585 SO:0001586 non_conservative_missense_variant SO:0001586 SO:0001587 stop_gained SO:0001587 SO:0001589 frameshift_variant SO:0001589 SO:0001590 terminator_codon_variant SO:0001590 SO:0001591 frame_restoring_variant SO:0001591 SO:0001592 minus_1_frameshift_variant SO:0001592 SO:0001593 minus_2_frameshift_variant SO:0001593 SO:0001594 plus_1_frameshift_variant SO:0001594 SO:0001595 plus_2_frameshift_variant SO:0001595 SO:0001596 transcript_secondary_structure_variant SO:0001596 SO:0001597 compensatory_transcript_secondary_structure_variant SO:0001597 SO:0001598 translational_product_structure_variant SO:0001598 SO:0001599 3D_polypeptide_structure_variant SO:0001599 SO:0001600 complex_3D_structural_variant SO:0001600 SO:0001601 conformational_change_variant SO:0001601 SO:0001602 complex_change_of_translational_product_variant SO:0001602 SO:0001603 polypeptide_sequence_variant SO:0001603 SO:0001604 amino_acid_deletion SO:0001604 SO:0001605 amino_acid_insertion SO:0001605 SO:0001606 amino_acid_substitution SO:0001606 SO:0001607 conservative_amino_acid_substitution SO:0001607 SO:0001608 non_conservative_amino_acid_substitution SO:0001608 SO:0001609 elongated_polypeptide SO:0001609 SO:0001610 elongated_polypeptide_C_terminal SO:0001610 SO:0001611 elongated_polypeptide_N_terminal SO:0001611 SO:0001612 elongated_in_frame_polypeptide_C_terminal SO:0001612 SO:0001613 elongated_out_of_frame_polypeptide_C_terminal SO:0001613 SO:0001614 elongated_in_frame_polypeptide_N_terminal_elongation SO:0001614 SO:0001615 elongated_out_of_frame_polypeptide_N_terminal SO:0001615 SO:0001616 polypeptide_fusion SO:0001616 SO:0001617 polypeptide_truncation SO:0001617 SO:0001618 inactive_catalytic_site SO:0001618 SO:0001619 non_coding_transcript_variant SO:0001619 SO:0001620 mature_miRNA_variant SO:0001620 SO:0001621 NMD_transcript_variant SO:0001621 SO:0001622 UTR_variant SO:0001622 SO:0001623 5_prime_UTR_variant SO:0001623 SO:0001624 3_prime_UTR_variant SO:0001624 SO:0001626 incomplete_terminal_codon_variant SO:0001626 SO:0001627 intron_variant SO:0001627 SO:0001628 intergenic_variant SO:0001628 SO:0001629 splice_site_variant SO:0001629 SO:0001630 splice_region_variant SO:0001630 SO:0001631 upstream_gene_variant SO:0001631 SO:0001632 downstream_gene_variant SO:0001632 SO:0001633 5KB_downstream_variant SO:0001633 SO:0001634 500B_downstream_variant SO:0001634 SO:0001635 5KB_upstream_variant SO:0001635 SO:0001636 2KB_upstream_variant SO:0001636 SO:0001650 inframe_variant SO:0001650 SO:0001744 UPD SO:0001744 SO:0001745 SO:0001745 maternal_uniparental_disomy SO:0001745 SO:0001746 SO:0001746 paternal_uniparental_disomy SO:0001746 SO:0001762 variant_origin SO:0001762 SO:0001773 lethal_variant SO:0001773 SO:0001775 SO:0001775 maternal_variant SO:0001775 SO:0001776 SO:0001776 paternal_variant SO:0001776 SO:0001777 somatic_variant SO:0001777 SO:0001778 germline_variant SO:0001778 SO:0001782 TF_binding_site_variant SO:0001782 SO:0001785 structural_alteration SO:0001785 SO:0001786 loss_of_heterozygosity SO:0001786 SO:0001787 splice_donor_5th_base_variant SO:0001787 SO:0001791 exon_variant SO:0001791 SO:0001792 non_coding_transcript_exon_variant SO:0001792 SO:0001802 increased_polyadenylation_variant SO:0001802 SO:0001803 decreased_polyadenylation_variant SO:0001803 SO:0001818 protein_altering_variant SO:0001818 SO:0001819 synonymous_variant SO:0001819 SO:0001820 inframe_indel SO:0001820 SO:0001821 inframe_insertion SO:0001821 SO:0001822 inframe_deletion SO:0001822 SO:0001823 conservative_inframe_insertion SO:0001823 SO:0001824 disruptive_inframe_insertion SO:0001824 SO:0001825 conservative_inframe_deletion SO:0001825 SO:0001826 disruptive_inframe_deletion SO:0001826 SO:0001878 feature_variant SO:0001878 SO:0001879 feature_ablation SO:0001879 SO:0001880 feature_amplification SO:0001880 SO:0001881 feature_translocation SO:0001881 SO:0001882 feature_fusion SO:0001882 SO:0001883 transcript_translocation SO:0001883 SO:0001884 regulatory_region_translocation SO:0001884 SO:0001885 TFBS_translocation SO:0001885 SO:0001886 transcript_fusion SO:0001886 SO:0001887 regulatory_region_fusion SO:0001887 SO:0001888 TFBS_fusion SO:0001888 SO:0001889 transcript_amplification SO:0001889 SO:0001890 transcript_regulatory_region_fusion SO:0001890 SO:0001891 regulatory_region_amplification SO:0001891 SO:0001892 TFBS_amplification SO:0001892 SO:0001893 transcript_ablation SO:0001893 SO:0001894 regulatory_region_ablation SO:0001894 SO:0001895 TFBS_ablation SO:0001895 SO:0001906 feature_truncation SO:0001906 SO:0001907 feature_elongation SO:0001907 SO:0001908 internal_feature_elongation SO:0001908 SO:0001909 frameshift_elongation SO:0001909 SO:0001910 frameshift_truncation SO:0001910 SO:0001911 copy_number_increase SO:0001911 SO:0001912 copy_number_decrease SO:0001912 SO:0001968 coding_transcript_variant SO:0001968 SO:0001969 coding_transcript_intron_variant SO:0001969 SO:0001970 non_coding_transcript_intron_variant SO:0001970 SO:0001983 5_prime_UTR_premature_start_codon_variant SO:0001983 SO:0001986 upstream_transcript_variant SO:0001986 SO:0001987 downstream_transcript_variant SO:0001987 SO:0001988 5_prime_UTR_premature_start_codon_gain_variant SO:0001988 SO:0001989 5_prime_UTR_premature_start_codon_loss_variant SO:0001989 SO:0001990 five_prime_UTR_premature_start_codon_location_variant SO:0001990 SO:0001992 nonsynonymous_variant SO:0001992 SO:0001995 extended_intronic_splice_region_variant SO:0001995 SO:0002008 rare_amino_acid_variant SO:0002008 SO:0002009 selenocysteine_loss SO:0002009 SO:0002010 pyrrolysine_loss SO:0002010 SO:0002011 intragenic_variant SO:0002011 SO:0002012 start_lost SO:0002012 SO:0002013 5_prime_UTR_truncation SO:0002013 SO:0002014 5_prime_UTR_elongation SO:0002014 SO:0002015 3_prime_UTR_truncation SO:0002015 SO:0002016 3_prime_UTR_elongation SO:0002016 SO:0002017 conserved_intergenic_variant SO:0002017 SO:0002018 conserved_intron_variant SO:0002018 SO:0002019 start_retained_variant SO:0002019 SO:0002052 dominant_negative_variant SO:0002052 SO:0002053 SO:0002053 gain_of_function_variant SO:0002053 SO:0002054 SO:0002054 loss_of_function_variant SO:0002054 SO:0002055 null_mutation SO:0002055 SO:0002060 interchromosomal_translocation SO:0002060 SO:0002072 sequence_comparison SO:0002072 SO:0002074 intergenic_1kb_variant SO:0002074 SO:0002075 incomplete_transcript_variant SO:0002075 SO:0002076 incomplete_transcript_3UTR_variant SO:0002076 SO:0002077 incomplete_transcript_5UTR_variant SO:0002077 SO:0002078 incomplete_transcript_intronic_variant SO:0002078 SO:0002079 incomplete_transcript_splice_region_variant SO:0002079 SO:0002080 incomplete_transcript_exonic_variant SO:0002080 SO:0002081 incomplete_transcript_CDS SO:0002081 SO:0002082 incomplete_transcript_coding_splice_variant SO:0002082 SO:0002083 2KB_downstream_variant SO:0002083 SO:0002084 exonic_splice_region_variant SO:0002084 SO:0002085 unidirectional_gene_fusion SO:0002085 SO:0002086 bidirectional_gene_fusion SO:0002086 SO:0002088 non_coding_transcript_splice_region_variant SO:0002088 SO:0002089 3_prime_UTR_exon_variant SO:0002089 SO:0002090 3_prime_UTR_intron_variant SO:0002090 SO:0002091 5_prime_UTR_intron_variant SO:0002091 SO:0002092 5_prime_UTR_exon_variant SO:0002092 SO:0002093 structural_interaction_variant SO:0002093 SO:0002152 genic_downstream_transcript_variant SO:0002152 SO:0002153 genic_upstream_transcript_variant SO:0002153 SO:0002160 sequence_length_variant SO:0002160 SO:0002161 short_tandem_repeat_change SO:0002161 SO:0002162 short_tandem_repeat_expansion SO:0002162 SO:0002163 short_tandem_repeat_contraction SO:0002163 SO:0002165 SO:0002165 trinucleotide_repeat_expansion SO:0002165 SO:0002169 splice_polypyrimidine_tract_variant SO:0002169 SO:0002170 splice_donor_region_variant SO:0002170 SO:0002214 redundant_inserted_stop_gained SO:0002214 SO:0002218 functionally_abnormal SO:0002218 SO:0002219 functionally_normal SO:0002219 SO:0002220 function_uncertain_variant SO:0002220 SO:0002244 partially_duplicated_transcript SO:0002244 SO:0002245 five_prime_duplicated_transcript SO:0002245 SO:0002246 three_prime_duplicated_transcript SO:0002246 SO:0002314 altered_gene_product_level SO:0002314 SO:0002315 increased_gene_product_level SO:0002315 SO:0002316 decreased_gene_product_level SO:0002316 SO:0002317 absent_gene_product SO:0002317 SO:0002318 altered_gene_product_sequence SO:0002318 SO:0002319 NMD_triggering_variant SO:0002319 SO:0002320 NMD_escaping_variant SO:0002320 SO:0002321 stop_gained_NMD_triggering SO:0002321 SO:0002322 stop_gained_NMD_escaping SO:0002322 SO:0002323 frameshift_variant_NMD_triggering SO:0002323 SO:0002324 frameshift_variant_NMD_escaping SO:0002324 SO:0002325 splice_donor_variant_NMD_triggering SO:0002325 SO:0002326 splice_donor_variant_NMD_escaping SO:0002326 SO:0002327 splice_acceptor_variant_NMD_triggering SO:0002327 SO:0002328 splice_acceptor_variant_NMD_escaping SO:0002328 SO:0002385 5_prime_UTR_uORF_variant SO:0002385 SO:0002386 5_prime_UTR_uORF_stop_codon_variant SO:0002386 SO:0002387 5_prime_UTR_uORF_frameshift_variant SO:0002387 SO:0002388 5_prime_UTR_uORF_stop_codon_gain_variant SO:0002388 SO:0002389 5_prime_UTR_uORF_stop_codon_loss_variant SO:0002389 SO:1000028 intrachromosomal_mutation SO:1000028 SO:1000029 SO:1000029 chromosomal_deletion SO:1000029 SO:1000030 chromosomal_inversion SO:1000030 SO:1000035 SO:1000035 duplication SO:1000035 SO:1000037 chromosomal_duplication SO:1000037 SO:1000044 SO:1000044 chromosomal_translocation SO:1000044 SO:1000045 SO:1000045 ring_chromosome SO:1000045 SO:1000183 SO:1000183 chromosome_structure_variation SO:1000183 SYMP:0000000 Cellulitis is a musculoskeletal system symptom characterized as a diffuse and especially subcutaneous inflammation of connective tissue. symptoms SYMP:0000000 doid/symp duplicate cellulitis SYMP:0000000 Cellulitis is a musculoskeletal system symptom characterized as a diffuse and especially subcutaneous inflammation of connective tissue. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cellulitis SYMP:0000001 stomach cramp symptoms SYMP:0000001 abdominal cramp SYMP:0000001 SYMP:0000002 symptoms SYMP:0000002 abdominal distention SYMP:0000002 SYMP:0000005 A neurological and physiological symptom that is characterized by an inability to coordinate voluntary muscular movements that is symptomatic of some nervous disorders. uncoordination symptoms SYMP:0000005 ataxia SYMP:0000005 A neurological and physiological symptom that is characterized by an inability to coordinate voluntary muscular movements that is symptomatic of some nervous disorders. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ataxia SYMP:0000006 A pain that is characterized by occurring in the lower back. back pain symptoms SYMP:0000006 backache SYMP:0000006 A pain that is characterized by occurring in the lower back. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=backache SYMP:0000007 A general symptom that is characterized as an act, instance, or result of being bled or the process by which something is bled: as a the escape of blood from vessels. symptoms SYMP:0000007 bleeding SYMP:0000007 A general symptom that is characterized as an act, instance, or result of being bled or the process by which something is bled: as a the escape of blood from vessels. url:http://www.merriam-webster.com/medlineplus/bleeding SYMP:0000008 symptoms SYMP:0000008 doid/symp duplicate blindness SYMP:0000008 SYMP:0000009 A skin and integumentary tissue symptom that is characterized by a fluid-filled elevation of the epidermis. symptoms SYMP:0000009 blister SYMP:0000009 A skin and integumentary tissue symptom that is characterized by a fluid-filled elevation of the epidermis. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=blister A vision symptom that is characterized by a decreased clarity or sharpness in vision, which can be caused by eye conditions myopia or hyperopia. symptoms SYMP:0000012 blurred vision SYMP:0000012 symptoms SYMP:0000015 giddiness SYMP:0000015 SYMP:0000016 A balance symptom that is characterized by a disturbance of consciousness characterized by inability to engage in orderly thought or by lack of power to distinguish, choose, or act decisively. symptoms SYMP:0000016 confusion SYMP:0000016 A balance symptom that is characterized by a disturbance of consciousness characterized by inability to engage in orderly thought or by lack of power to distinguish, choose, or act decisively. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=confusion symptoms SYMP:0000017 crinkle SYMP:0000017 symptoms SYMP:0000018 darkening of skin SYMP:0000018 symptoms SYMP:0000019 deafness SYMP:0000019 SYMP:0000020 A nutrition, metabolism, and development symptom that is characterized by an abnormal depletion of body fluids. symptoms SYMP:0000020 dehydration SYMP:0000020 A nutrition, metabolism, and development symptom that is characterized by an abnormal depletion of body fluids. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dehydration SYMP:0000021 A neurological and physiological symptom that is characterized by a mental disturbance characterized by confusion, disordered speech, and hallucinations. symptoms SYMP:0000021 delirium SYMP:0000021 A neurological and physiological symptom that is characterized by a mental disturbance characterized by confusion, disordered speech, and hallucinations. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=delirium SYMP:0000022 A neurological and physiological symptom that is characterized by a chronic feeling of emptiness, sadness, or inability to feel pleasure that may appear to happen for no clear reason. Additionally one may experience feelings of hopelessness, pessimism, irritability, frustration, or restlessness, guilt, worthlessness and thoughts of death or suicide. MESH:D003863 symptoms SYMP:0000022 depression SYMP:0000022 A neurological and physiological symptom that is characterized by a chronic feeling of emptiness, sadness, or inability to feel pleasure that may appear to happen for no clear reason. Additionally one may experience feelings of hopelessness, pessimism, irritability, frustration, or restlessness, guilt, worthlessness and thoughts of death or suicide. url:https://www.medicalnewstoday.com/articles/8933 url:https://www.nimh.nih.gov/health/topics/depression SYMP:0000023 A confusion that is characterized by an usually transient state of confusion especially as to time, place, or identity; often as a result of disease or drugs. symptoms SYMP:0000023 disorientation SYMP:0000023 A confusion that is characterized by an usually transient state of confusion especially as to time, place, or identity; often as a result of disease or drugs. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=disorientation SYMP:0000024 A neurological and physiological symptom that is characterized by a feeling of being more sleepy than normal during the day. People who are drowsy may fall asleep in when they do not want to or at times which can lead to safety concerns. drowsy somnolence symptoms SYMP:0000024 drowsiness SYMP:0000024 A neurological and physiological symptom that is characterized by a feeling of being more sleepy than normal during the day. People who are drowsy may fall asleep in when they do not want to or at times which can lead to safety concerns. url:https://medlineplus.gov/ency/article/003208.htm SYMP:0000025 A cough that is characterized by a lack of accompanied phlegm production. nonproductive cough symptoms SYMP:0000025 dry cough SYMP:0000025 nonproductive cough url:https://www.healthline.com/health/dry-cough SYMP:0000030 A nervous system symptom that is characterized by a complete or partial loss of function especially when involving the power of motion or of sensation in any part of the body. symptoms SYMP:0000030 paralysis SYMP:0000030 A nervous system symptom that is characterized by a complete or partial loss of function especially when involving the power of motion or of sensation in any part of the body. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=paralysis SYMP:0000032 symptoms SYMP:0000032 flaccidity SYMP:0000032 symptoms SYMP:0000033 flat keratotic capsule SYMP:0000033 haemorrhagic gastroenteritis symptoms SYMP:0000036 hemorrhagic gastroenteritis SYMP:0000036 A respiratory system and chest symptom that is characterized by being short or breath or out of air (dyspnea), with inflammation of the small intestine (enteritis). symptoms SYMP:0000038 dyspneic enteritis SYMP:0000038 A respiratory system and chest symptom that is characterized by being short or breath or out of air (dyspnea), with inflammation of the small intestine (enteritis). url:https://medlineplus.gov/ency/article/001149.htm url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/dyspnea Enteritis is a digestive system symptom involving the inflammation of the small intestines and especially of the human ileum. symptoms SYMP:0000039 enteritis SYMP:0000039 Enteritis is a digestive system symptom involving the inflammation of the small intestines and especially of the human ileum. url:http://en.wikipedia.org/wiki/Enteritis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=enteritis SYMP:0000040 A urinary system symptom that is characterized by the presence of blood or blood cells in the urine. symptoms SYMP:0000040 hematuria SYMP:0000040 A urinary system symptom that is characterized by the presence of blood or blood cells in the urine. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hematuria SYMP:0000041 A cardiovascular system symptom that is characterized by an acute loss of blood from a damaged blood vessel. symptoms SYMP:0000041 hemorrhage SYMP:0000041 A cardiovascular system symptom that is characterized by an acute loss of blood from a damaged blood vessel. url:https://www.ncbi.nlm.nih.gov/books/NBK542273/ symptoms SYMP:0000045 hepatic necrosis SYMP:0000045 SYMP:0000046 symptoms SYMP:0000046 doid/symp duplicate hepatitis SYMP:0000046 SYMP:0000047 symptoms SYMP:0000047 hepatosplenomegaly SYMP:0000047 SYMP:0000051 symptoms SYMP:0000051 doid/symp duplicate hydrocephalus SYMP:0000051 SYMP:0000054 symptoms SYMP:0000054 hypergammaglobulinemia SYMP:0000054 A skin and integumentary tissue symptom that is characterized by an excess pigmentation in a bodily part or tissue, as the skin. symptoms SYMP:0000056 hyperpigmentation SYMP:0000056 A skin and integumentary tissue symptom that is characterized by an excess pigmentation in a bodily part or tissue, as the skin. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hyperpigmentation SYMP:0000058 symptoms SYMP:0000058 hyperreflexia SYMP:0000058 SYMP:0000059 symptoms SYMP:0000059 hypotension SYMP:0000059 SYMP:0000061 Inflammation is a general symptom where there is a local response to cellular injury that is marked by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling, and often loss of function and that serves as a mechanism initiating the elimination of noxious agents and of damaged tissue. symptoms SYMP:0000061 inflammation SYMP:0000061 Inflammation is a general symptom where there is a local response to cellular injury that is marked by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling, and often loss of function and that serves as a mechanism initiating the elimination of noxious agents and of damaged tissue. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=inflammation symptoms SYMP:0000063 intestinal hemorrhage SYMP:0000063 SYMP:0000064 A pain that is characterized by a pain situated, or occurring, in or around a joint. arthralgia arthromyalgia symptoms SYMP:0000064 joint pain SYMP:0000064 A pain that is characterized by a pain situated, or occurring, in or around a joint. url:https://medlineplus.gov/ency/article/003261.htm symptoms SYMP:0000066 keratotic nodules of the skin SYMP:0000066 symptoms SYMP:0000068 doid/symp duplicate laryngitis SYMP:0000068 larynx and trachea inflammation symptoms SYMP:0000069 doid/symp duplicate laryngotracheitis SYMP:0000069 symptoms SYMP:0000070 lesions in myocardium SYMP:0000070 SYMP:0000075 A fatigue that is characterized by abnormal drowsiness. symptoms SYMP:0000075 lethargy SYMP:0000075 A fatigue that is characterized by abnormal drowsiness. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=lethargy languid symptoms SYMP:0000076 listlessness SYMP:0000076 A nervous system symptom that is characterized by the harmonious functioning of interrelated organs and body parts; in particular the working together of muscle groups in the execution of complicated movements. symptoms SYMP:0000079 coordination symptom SYMP:0000079 A nervous system symptom that is characterized by the harmonious functioning of interrelated organs and body parts; in particular the working together of muscle groups in the execution of complicated movements. url:https://medical-dictionary.thefreedictionary.com/coordinations SYMP:0000082 symptoms SYMP:0000082 lesions in lung SYMP:0000082 SYMP:0000083 symptoms SYMP:0000083 doid/symp duplicate lymphangitis SYMP:0000083 symptoms SYMP:0000084 lymphoblastoma SYMP:0000084 SYMP:0000086 symptoms SYMP:0000086 doid/symp duplicate lymphopenia SYMP:0000086 symptoms SYMP:0000087 massive hepatic necrosis SYMP:0000087 A nervous system symptom that is characterized by an inflammation of the brain and meninges. symptoms SYMP:0000089 doid/symp duplicate meningoencephalitis SYMP:0000089 A nervous system symptom that is characterized by an inflammation of the brain and meninges. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=meningoencephalitis SYMP:0000090 A nervous system symptom that is characterized by inflammation of the brain tissue, which is typically caused by a viral infection, but it may also be caused by bacterial or parasitic infections, cancer, or certain drugs or toxins. symptoms SYMP:0000090 doid/symp duplicate encephalitis SYMP:0000090 A nervous system symptom that is characterized by inflammation of the brain tissue, which is typically caused by a viral infection, but it may also be caused by bacterial or parasitic infections, cancer, or certain drugs or toxins. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/encephalitis An encephalitis that is not intense (not severe). symptoms SYMP:0000091 mild encephalitis SYMP:0000091 An encephalitis that is not intense (not severe). url:https://www.macmillandictionary.com/us/dictionary/american/mild_1 SYMP:0000092 A skin and integumentary tissue symptom that is characterized by an abnormal change in structure of the skin that is especially circumscribed and well defined due to injury or disease. symptoms SYMP:0000092 skin lesion SYMP:0000092 A skin and integumentary tissue symptom that is characterized by an abnormal change in structure of the skin that is especially circumscribed and well defined due to injury or disease. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=lesion SYMP:0000093 symptoms SYMP:0000093 muscle cramp SYMP:0000093 SYMP:0000094 symptoms SYMP:0000094 muscle weakness SYMP:0000094 SYMP:0000095 symptoms SYMP:0000095 doid/symp duplicate myocarditis SYMP:0000095 SYMP:0000098 A urinary system symptom that is characterized by the acute or chronic inflammation of the kidney affecting the structure (as of the glomerulus or parenchyma) and caused by infection, a degenerative process, or vascular disease. symptoms SYMP:0000098 doid/symp duplicate nephritis SYMP:0000098 A urinary system symptom that is characterized by the acute or chronic inflammation of the kidney affecting the structure (as of the glomerulus or parenchyma) and caused by infection, a degenerative process, or vascular disease. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=nephritis SYMP:0000099 A sensation perception that is characterized by an unpleasant sensation that usually indicates the body is threatened or damaged. The sensation may be sharp or dull, short-lived or chronic, intermittent or continual, confined to one area or spread over the entire body. symptoms SYMP:0000099 pain SYMP:0000099 A sensation perception that is characterized by an unpleasant sensation that usually indicates the body is threatened or damaged. The sensation may be sharp or dull, short-lived or chronic, intermittent or continual, confined to one area or spread over the entire body. url:http://www.nationalpainfoundation.org/MyTreatment/articles/Cancer_PainDefinitions.asp symptoms SYMP:0000100 lesions in pancreas SYMP:0000100 A skin and integumentary tissue symptom that is characterized by an inflammation of the peritoneum. symptoms SYMP:0000102 doid/symp duplicate peritonitis SYMP:0000102 A skin and integumentary tissue symptom that is characterized by an inflammation of the peritoneum. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=peritonitis symptoms SYMP:0000106 plasmacytosis SYMP:0000106 SYMP:0000107 A skin and integumentary tissue symptom that is characterized by an exudation of fluid from the blood or lymph into a pleural cavity. symptoms SYMP:0000107 pleural effusion SYMP:0000107 A skin and integumentary tissue symptom that is characterized by an exudation of fluid from the blood or lymph into a pleural cavity. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pleural%20effusion SYMP:0000109 symptoms SYMP:0000109 mouth papules SYMP:0000109 symptoms SYMP:0000112 doid/symp duplicate tracheitis SYMP:0000112 SYMP:0000114 symptoms SYMP:0000114 doid/symp duplicate thrombocytopenia SYMP:0000114 SYMP:0000116 Prostration is a general symptom characterized by complete physical or mental exhaustion. symptoms SYMP:0000116 prostration SYMP:0000116 Prostration is a general symptom characterized by complete physical or mental exhaustion. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=prostration An abnormal chest sound that is characterized by the clicking, rattling, or crackling noises heard on auscultation of (listening to) the lung with a stethoscope during inhalation. The sounds are caused by the 'popping open' of small airways and alveoli collapsed by fluid, exudate, or lack of aeration during expiration. The word 'rales' derives from the French word rale meaning 'rattle'. Rales can be heard in patients with pneumonia, atelectasis, pulmonary fibrosis, acute bronchitis, or bronchiectasis. Pulmonary edema secondary to left-sided congestive heart failure can also cause rales. crackles crepitations symptoms SYMP:0000118 rales SYMP:0000118 An abnormal chest sound that is characterized by the clicking, rattling, or crackling noises heard on auscultation of (listening to) the lung with a stethoscope during inhalation. The sounds are caused by the 'popping open' of small airways and alveoli collapsed by fluid, exudate, or lack of aeration during expiration. The word 'rales' derives from the French word rale meaning 'rattle'. Rales can be heard in patients with pneumonia, atelectasis, pulmonary fibrosis, acute bronchitis, or bronchiectasis. Pulmonary edema secondary to left-sided congestive heart failure can also cause rales. url:http://en.wikipedia.org/wiki/Rales SYMP:0000124 symptoms SYMP:0000124 seizure SYMP:0000124 SYMP:0000125 symptoms SYMP:0000125 liver inflammation SYMP:0000125 intense back pain symptoms SYMP:0000127 severe backache SYMP:0000127 SYMP:0000128 symptoms SYMP:0000128 doid/symp duplicate conjunctivitis SYMP:0000128 symptoms SYMP:0000129 severe conjunctivitis SYMP:0000129 SYMP:0000130 symptoms SYMP:0000130 severe headache SYMP:0000130 A joint pain that is characterized by a pain situated, or occurring, in or around a joint that is intense (severe). intense join pain symptoms SYMP:0000131 severe joint pain SYMP:0000131 A joint pain that is characterized by a pain situated, or occurring, in or around a joint that is intense (severe). url:https://medical-dictionary.thefreedictionary.com/severe SYMP:0000132 Necrosis is a general symptom where death of a portion of tissue differentially affected by local injury (as loss of blood supply, corrosion, burning, or the local lesion of a disease). symptoms SYMP:0000132 necrosis SYMP:0000132 Necrosis is a general symptom where death of a portion of tissue differentially affected by local injury (as loss of blood supply, corrosion, burning, or the local lesion of a disease). url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=necrosis symptoms SYMP:0000133 severe necrosis SYMP:0000133 symptoms SYMP:0000134 doid/symp duplicate sinusitis SYMP:0000134 SYMP:0000136 A skin lesion that is characterized by a break in skin with loss of surface tissue, disintegration and necrosis of epithelial tissue, and often pus. symptoms SYMP:0000136 skin ulcer SYMP:0000136 A skin lesion that is characterized by a break in skin with loss of surface tissue, disintegration and necrosis of epithelial tissue, and often pus. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ulcer SYMP:0000139 A respiratory system and chest symptom that is characterized by a sudden violent spasmodic audible expiration of breath through the nose and mouth especially as a reflex act following irritation of the nasal mucous membrane. symptoms SYMP:0000139 sneezing SYMP:0000139 A respiratory system and chest symptom that is characterized by a sudden violent spasmodic audible expiration of breath through the nose and mouth especially as a reflex act following irritation of the nasal mucous membrane. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sneezing SYMP:0000141 A nervous system symptom that is characterized by an abnormal increase in muscle tone or stiffness of muscle, which might interfere with movement, speech, or be associated with discomfort or pain. symptoms SYMP:0000141 spasticity SYMP:0000141 A nervous system symptom that is characterized by an abnormal increase in muscle tone or stiffness of muscle, which might interfere with movement, speech, or be associated with discomfort or pain. url:https://www.ninds.nih.gov/health-information/disorders/spasticity fecal symptoms SYMP:0000146 feces and droppings symptom SYMP:0000146 SYMP:0000147 symptoms SYMP:0000147 doid/symp duplicate steatorrhea SYMP:0000147 SYMP:0000153 symptoms SYMP:0000153 doid/symp duplicate vasculitis SYMP:0000153 Thirst is a general symptom characterized by a sensation of dryness in the mouth and throat associated with a desire for liquids. symptoms SYMP:0000156 thirst SYMP:0000156 Thirst is a general symptom characterized by a sensation of dryness in the mouth and throat associated with a desire for liquids. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=thirst symptoms SYMP:0000157 thymus symptom SYMP:0000157 symptoms SYMP:0000158 spleen symptom SYMP:0000158 symptoms SYMP:0000160 tracheobronchitis SYMP:0000160 SYMP:0000162 Tremor is a generial symptom characterized by a trembling or shaking usually from physical weakness, emotional stress, or disease. symptoms SYMP:0000162 tremor SYMP:0000162 Tremor is a generial symptom characterized by a trembling or shaking usually from physical weakness, emotional stress, or disease. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tremor A coordination symptom that is characterized by a loss of complicated body movements, which may be caused by disease, injury, or toxins. lack of coordination symptoms SYMP:0000164 incoordination SYMP:0000164 A coordination symptom that is characterized by a loss of complicated body movements, which may be caused by disease, injury, or toxins. url:https://www.merckmanuals.com/home/brain,-spinal-cord,-and-nerve-disorders/movement-disorders/coordination-disorders A nutrition, metabolism, and development symptom that is characterized by the unintended loss of weight and lean body tissue characteristic of many diseases (as cancer, tuberculosis, and AIDS). symptoms SYMP:0000174 wasting SYMP:0000174 A nutrition, metabolism, and development symptom that is characterized by the unintended loss of weight and lean body tissue characteristic of many diseases (as cancer, tuberculosis, and AIDS). url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=wasting SYMP:0000177 symptoms SYMP:0000177 weakness SYMP:0000177 SYMP:0000178 A weight symptom that is characterized by a reduction of the total body mass, by a mean loss of fluid, body fat (adipose tissue), or lean mass (namely bone mineral deposits, muscle, tendon, and other connective tissue). Weight loss can either occur unintentionally because of malnourishment or an underlying disease. SYMP:0000476 ICD9CM_2005:783.21 UMLS_CUI:C0043096 UMLS_ICD9CM_2005_AUI:A1605347 loss of weight symptoms SYMP:0000178 weight loss SYMP:0000178 A weight symptom that is characterized by a reduction of the total body mass, by a mean loss of fluid, body fat (adipose tissue), or lean mass (namely bone mineral deposits, muscle, tendon, and other connective tissue). Weight loss can either occur unintentionally because of malnourishment or an underlying disease. url:https://en.wikipedia.org/wiki/Weight_loss symptoms SYMP:0000180 liver symptom SYMP:0000180 buboes symptoms SYMP:0000182 bubo SYMP:0000182 symptoms SYMP:0000183 muscle symptom SYMP:0000183 symptoms SYMP:0000184 change in skin color SYMP:0000184 A fatigue that is characterized by a feeling of exhaustion in strength, endurance, and vigor. symptoms SYMP:0000185 weariness SYMP:0000185 A fatigue that is characterized by a feeling of exhaustion in strength, endurance, and vigor. url:https://www.merriam-webster.com/dictionary/weary SYMP:0000186 A fatigue that is characterized by a feeling of weariness (bodily or mental) or feeling of weakness. Exhaustion is a shorter-lived form of fatigue that can be experienced emotionally, mentally, and physically. symptoms SYMP:0000186 exhaustion SYMP:0000186 A fatigue that is characterized by a feeling of weariness (bodily or mental) or feeling of weakness. Exhaustion is a shorter-lived form of fatigue that can be experienced emotionally, mentally, and physically. url:https://wellteq.co/insights/mental-health/fatigue-burnout-and-exhaustion-whats-the-difference url:https://www.dictionary.com/browse/fatigue SYMP:0000187 A fatigue that is characterized by a feeling of a lessened capacity for work and reduced efficiency of accomplishment, usually accompanied by a sense of weariness and fatigue. symptoms SYMP:0000187 tiredness SYMP:0000187 A fatigue that is characterized by a feeling of a lessened capacity for work and reduced efficiency of accomplishment, usually accompanied by a sense of weariness and fatigue. url:https://www.medicinenet.com/tired/definition.htm SYMP:0000188 symptoms SYMP:0000188 abdominal discomfort SYMP:0000188 symptoms SYMP:0000189 postural reaction SYMP:0000189 symptoms SYMP:0000190 wheelbarrowing SYMP:0000190 symptoms SYMP:0000193 hopping SYMP:0000193 symptoms SYMP:0000194 conscious proprioception SYMP:0000194 symptoms SYMP:0000195 abnormal hemiwalking hemistanding SYMP:0000195 symptoms SYMP:0000196 reproductive system symptom SYMP:0000196 A reproductive system symptom that is characterized by the expulsion of a fetus at any time before completion of pregnancy and is often due to infection. infectious abortion symptoms SYMP:0000197 abortion SYMP:0000197 A reproductive system symptom that is characterized by the expulsion of a fetus at any time before completion of pregnancy and is often due to infection. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=abortion A reproductive system symptom that is characterized by the spontaneous expulsion of a human fetus before it is viable and especially between the 12th and 28th weeks of gestation. symptoms SYMP:0000198 miscarriage SYMP:0000198 A reproductive system symptom that is characterized by the spontaneous expulsion of a human fetus before it is viable and especially between the 12th and 28th weeks of gestation. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=miscarriage An abortion that is characterized by the natural occurring expulsion of a nonviable fetus. symptoms SYMP:0000199 spontaneous abortion SYMP:0000199 An abortion that is characterized by the natural occurring expulsion of a nonviable fetus. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=spontaneous%20abortion symptoms SYMP:0000200 acute arthritis SYMP:0000200 A meningoencephalitis that is characterized by a severe and sudden onset. symptoms SYMP:0000201 acute meningoencephalitis SYMP:0000201 A meningoencephalitis that is characterized by a severe and sudden onset. url:https://medlineplus.gov/ency/imagepages/18126.htm symptoms SYMP:0000202 acute painful vision loss SYMP:0000202 symptoms SYMP:0000205 salivary gland symptom SYMP:0000205 symptoms SYMP:0000206 acute suppurative parotiditis SYMP:0000206 A fever that is characterized by the state of being free from fever. symptoms SYMP:0000207 afebrile SYMP:0000207 A fever that is characterized by the state of being free from fever. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=afebrile SYMP:0000208 anaemia symptoms SYMP:0000208 doid/symp duplicate - reviewed 10/2022, both DO & SYMP anemia SYMP:0000208 symptoms SYMP:0000209 ischemia SYMP:0000209 SYMP:0000210 light intolerance symptoms SYMP:0000210 photophobia SYMP:0000210 eye weakness rapid eye fatigue symptoms SYMP:0000211 doid/symp duplicate asthenopia SYMP:0000211 symptoms SYMP:0000212 eye strain SYMP:0000212 SYMP:0000213 An aphasia that is characterized by a pathological loss of the ability to write. inability to write symptoms SYMP:0000213 agraphia SYMP:0000213 An aphasia that is characterized by a pathological loss of the ability to write. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=agraphia An aphasia that is characterized by a severe problem with recalling words or names. amnesic aphasia amnestic aphasia anomic aphasia inability to name objects nominal aphasia symptoms SYMP:0000214 doid/symp duplicate - reviewed 10/2022, both DO & SYMP anomia SYMP:0000214 An aphasia that is characterized by a severe problem with recalling words or names. url:http://en.wikipedia.org/wiki/Anomia An aphasia that is characterized by a loss of ability to comprehend speech. symptoms SYMP:0000215 inability to comprehend speech SYMP:0000215 An aphasia that is characterized by a loss of ability to comprehend speech. url:https://www.healthline.com/health/aphasia#causes url:https://www.nidcd.nih.gov/health/aphasia An aphasia that is characterized by a loss of ability to speak. symptoms SYMP:0000216 inability to speak SYMP:0000216 An aphasia that is characterized by a loss of ability to speak. url:https://www.healthline.com/health/aphasia#causes url:https://www.nidcd.nih.gov/health/aphasia An aphasia that is characterized by a loss of ability to form words. symptoms SYMP:0000217 inability to form words SYMP:0000217 An aphasia that is characterized by a loss of ability to form words. url:https://www.healthline.com/health/aphasia#causes url:https://www.nidcd.nih.gov/health/aphasia An aphasia that is characterized by a loss of ability to properly enunciate words. symptoms SYMP:0000218 poor enunciation SYMP:0000218 An aphasia that is characterized by a loss of ability to properly enunciate words. url:https://www.healthline.com/health/aphasia#causes url:https://www.nidcd.nih.gov/health/aphasia An inability to comprehend speech that is characterized by an inability to understand spoken, written, or tactile speech symbols that results from damage (as by a brain lesion) to an area of the brain (as Wernicke's area) concerned with language. Wernicke's aphasia fluent aphasia inability to perceive pitch, rhythm, and emotional tone of speech sensory aphasia symptoms SYMP:0000219 receptive aphasia SYMP:0000219 An inability to comprehend speech that is characterized by an inability to understand spoken, written, or tactile speech symbols that results from damage (as by a brain lesion) to an area of the brain (as Wernicke's area) concerned with language. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sensory%20aphasia absence of neurological reflexes symptoms SYMP:0000220 areflexia SYMP:0000220 symptoms SYMP:0000221 absence of knee jerk reflex SYMP:0000221 SYMP:0000222 extremities weakness symptoms SYMP:0000222 limb weakness SYMP:0000222 symptoms SYMP:0000223 arm weakness SYMP:0000223 symptoms SYMP:0000224 leg weakness SYMP:0000224 SYMP:0000225 loss of strength symptoms SYMP:0000225 doid/symp duplicate asthenia SYMP:0000225 SYMP:0000226 A cardiac fibrillation consisting of a very rapid uncoordinated contractions of the atria of the heart resulting in a lack of synchronism between heartbeat and pulse beat. AF AFib a-fib auricular fibrillation symptoms SYMP:0000226 doid/symp duplicate - reviewed 10/2022, both DO & SYMP atrial fibrillation SYMP:0000226 A cardiac fibrillation consisting of a very rapid uncoordinated contractions of the atria of the heart resulting in a lack of synchronism between heartbeat and pulse beat. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=atrial%20fibrillation symptoms SYMP:0000227 blood vessel infection SYMP:0000227 symptoms SYMP:0000228 hemorrhagic diarrhea SYMP:0000228 SYMP:0000229 blood in stool symptoms SYMP:0000229 bloody stool SYMP:0000229 SYMP:0000230 symptoms SYMP:0000230 body ache SYMP:0000230 SYMP:0000231 Bradycardia is a cardiovascular system symptom consisting of a relatively slow heart action whether physiological or pathological. symptoms SYMP:0000231 bradycardia SYMP:0000231 Bradycardia is a cardiovascular system symptom consisting of a relatively slow heart action whether physiological or pathological. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bradycardia A respiratory system and chest symptom that is characterized by an inflammation of the bronchioles. bronchioles inflammation symptoms SYMP:0000232 doid/symp duplicate bronchiolitis SYMP:0000232 A respiratory system and chest symptom that is characterized by an inflammation of the bronchioles. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiolitis clouded sensorium decreased sensorium symptoms SYMP:0000233 inability to think clearly SYMP:0000233 SYMP:0000234 symptoms SYMP:0000234 cloudy cornea SYMP:0000234 A pain that is characterized by the condition marked by recurrent episodes of prolonged and uncontrollable crying and irritability in an otherwise healthy infant that is of unknown cause and usually subsides after three to four months of age. symptoms SYMP:0000235 colic SYMP:0000235 A pain that is characterized by the condition marked by recurrent episodes of prolonged and uncontrollable crying and irritability in an otherwise healthy infant that is of unknown cause and usually subsides after three to four months of age. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=colic A pain that is characterized by an attack of acute abdominal pain localized in a hollow organ or part (as the small intestine, ureter, or bile duct) and often caused by spasm, obstruction, or twisting. symptoms SYMP:0000236 colicky pain SYMP:0000236 A pain that is characterized by an attack of acute abdominal pain localized in a hollow organ or part (as the small intestine, ureter, or bile duct) and often caused by spasm, obstruction, or twisting. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=colic SYMP:0000237 A respiratory system and chest symptom that is characterized by an excessive accumulation especially of blood or mucus. blocked nose nasal blockage nasal obstruction stuffed up nose stuffy nose symptoms SYMP:0000237 congestion SYMP:0000237 A respiratory system and chest symptom that is characterized by an excessive accumulation especially of blood or mucus. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=congestion symptoms SYMP:0000238 continuous profuse salivation SYMP:0000238 SYMP:0000239 symptoms SYMP:0000239 cornea symptom SYMP:0000239 SYMP:0000240 symptoms SYMP:0000240 corneal opacity SYMP:0000240 symptoms SYMP:0000241 corneal ulcers SYMP:0000241 A cough that is characterized by production and expectoration (bringing up) of sputum that is bright red or pink and frothy. symptoms SYMP:0000242 cough with bloody sputum SYMP:0000242 A cough that is characterized by production and expectoration (bringing up) of sputum that is bright red or pink and frothy. url:https://www.webmd.com/lung/coughing-up-blood A fever that is characterized by occurring during periodic episodes. SYMP:0000884 recurrent fever symptoms intermittent fever SYMP:0000243 cyclic fever SYMP:0000243 A fever that is characterized by occurring during periodic episodes. url:http://en.wikipedia.org/wiki/Fever#Types url:http://www.wrongdiagnosis.com/sym/cyclic_fever_in_children.htm symptoms SYMP:0000244 alteration of appetite SYMP:0000244 SYMP:0000245 An alteration of appetite that is characterized by a reduced desire to eat. poor appetite symptoms SYMP:0000245 decreased appetite SYMP:0000245 An alteration of appetite that is characterized by a reduced desire to eat. url:https://www.healthline.com/health/appetite-decreased An alteration of appetite that is characterized by an desire to eat, an excess desire for food. symptoms SYMP:0000246 increased appetite SYMP:0000246 An alteration of appetite that is characterized by an desire to eat, an excess desire for food. url:https://medlineplus.gov/ency/article/003134.htm A neurological and physiological symptom that is characterized by one's body’s ability to sense movement, action, and location and results from sensory receptors in one's nervous system and body (muscles, joints, and tendons). symptoms SYMP:0000247 proprioception symptom SYMP:0000247 A neurological and physiological symptom that is characterized by one's body’s ability to sense movement, action, and location and results from sensory receptors in one's nervous system and body (muscles, joints, and tendons). url:https://www.webmd.com/brain/what-is-proprioception A proprioception symptom that is characterized by a decreased ability of an organism to consciously process the reception of stimuli produced within the organism. symptoms SYMP:0000248 decreased conscious proprioception SYMP:0000248 A proprioception symptom that is characterized by a decreased ability of an organism to consciously process the reception of stimuli produced within the organism. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=proprioception symptoms SYMP:0000249 reflex symptom SYMP:0000249 symptoms SYMP:0000250 decreased flexor withdrawal reflex SYMP:0000250 A skin and integumentary tissue symptom that is characterized by a pus-filled pocket in the skin, similar to a pimple, but larger and deeper. The pocket is filled with bacteria, white blood cells, and dead skin and typcally result from the bacteria Staphylococcus aureus prentrating the skin through a cut or hair follicle. cutaneous abscess dermal abscesses skin abscess subcutaneous abscess symptoms SYMP:0000251 dermal abscess SYMP:0000251 A skin and integumentary tissue symptom that is characterized by a pus-filled pocket in the skin, similar to a pimple, but larger and deeper. The pocket is filled with bacteria, white blood cells, and dead skin and typcally result from the bacteria Staphylococcus aureus prentrating the skin through a cut or hair follicle. url:https://jamanetwork.com/journals/jama/fullarticle/2677448 A rash characterized by large patches of red skin, without overlying changes in the epidermis. diffuse erythema symptoms SYMP:0000252 diffuse rash SYMP:0000252 A rash characterized by large patches of red skin, without overlying changes in the epidermis. url:https://www.drugwatch.com/health/rash-and-skin-disorders/erythema/ url:https://www.sciencedirect.com/topics/medicine-and-dentistry/erythema enlargement of one pupil pupils of different size symptoms SYMP:0000253 anisocoria SYMP:0000253 symptoms SYMP:0000254 dilated pupil SYMP:0000254 symptoms SYMP:0000255 diminished gastro-intestinal motility SYMP:0000255 symptoms SYMP:0000256 diminished gag reflex SYMP:0000256 symptoms SYMP:0000257 absent gag reflex SYMP:0000257 SYMP:0000258 diplopia symptoms SYMP:0000258 double vision SYMP:0000258 A dry cough that is characterized by a rough and loud sound. symptoms SYMP:0000259 dry hacking cough SYMP:0000259 A dry cough that is characterized by a rough and loud sound. url:https://en.wiktionary.org/wiki/hacking_cough SYMP:0000260 symptoms SYMP:0000260 dry mouth SYMP:0000260 dry mucous membranes symptoms SYMP:0000261 dry mucous membrane SYMP:0000261 SYMP:0000262 symptoms SYMP:0000262 doid/symp duplicate endocarditis SYMP:0000262 SYMP:0000263 A reproductive system symptom that is characterized by an inflammation of the epididymis. inflammation of the epididymis symptoms SYMP:0000263 doid/symp duplicate epididymitis SYMP:0000263 A reproductive system symptom that is characterized by an inflammation of the epididymis. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=epididymitis A reproductive system symptom that is characterized by inflammation of the epididymis and/or testicle (testis). epididymo-orchitis symptoms SYMP:0000264 epididymorchitis SYMP:0000264 A reproductive system symptom that is characterized by inflammation of the epididymis and/or testicle (testis). url:https://patient.info/mens-health/scrotal-lumps-pain-and-swelling/epididymo-orchitis partial seizure symptoms SYMP:0000266 focal seizure SYMP:0000266 symptoms SYMP:0000267 generalized seizure SYMP:0000267 grand mal seizure symptoms SYMP:0000268 tonic-clonic seizure SYMP:0000268 symptoms SYMP:0000269 epileptic seizure SYMP:0000269 symptoms SYMP:0000270 simple partial seizure SYMP:0000270 symptoms SYMP:0000271 complex partial seizure SYMP:0000271 symptoms SYMP:0000272 myoclonic seizure SYMP:0000272 symptoms SYMP:0000273 clonic seizure SYMP:0000273 symptoms SYMP:0000274 tonic seizure SYMP:0000274 symptoms SYMP:0000275 atonic seizure SYMP:0000275 profuse salivation symptoms SYMP:0000277 excess salivation SYMP:0000277 symptoms SYMP:0000278 extensive ulcer SYMP:0000278 An exhaustion that is characterized by exceeding the ordinary, usual, or expected. symptoms SYMP:0000279 extreme exhaustion SYMP:0000279 An exhaustion that is characterized by exceeding the ordinary, usual, or expected. url:https://www.merriam-webster.com/dictionary/extreme A fatigue that is characterized by exceeding the ordinary, usual, or expected. symptoms SYMP:0000280 extreme fatigue SYMP:0000280 A fatigue that is characterized by exceeding the ordinary, usual, or expected. url:https://www.merriam-webster.com/dictionary/extreme ocular discharge symptoms SYMP:0000281 eye discharge SYMP:0000281 symptoms SYMP:0000282 fixed dilated pupils SYMP:0000282 SYMP:0000283 symptoms SYMP:0000283 doid/symp duplicate facial paralysis SYMP:0000283 fixed pupils symptoms SYMP:0000284 fixed pupil SYMP:0000284 SYMP:0000285 A paralysis that is charicterized by a lack of muscle tone in the affected muscles and in which tendon reflexes are decreased or absent. symptoms SYMP:0000285 flaccid paralysis SYMP:0000285 A paralysis that is charicterized by a lack of muscle tone in the affected muscles and in which tendon reflexes are decreased or absent. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=flaccid%20paralysis SYMP:0000287 Arrhythmia is a cardiovascular system symptom consisting of an alteration in rhythm of the heartbeat either in time or force. SYMP:0000288 SYMP:0000667 SYMP:0000668 abnormal heart beat abnormal heart rhythm dysrhythmia heart rhythm symptom irregular heartbeat symptoms fluctuation of heart rate SYMP:0000287 arrhythmia SYMP:0000287 Arrhythmia is a cardiovascular system symptom consisting of an alteration in rhythm of the heartbeat either in time or force. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=arrhythmia SYMP:0000289 A skin and integumentary tissue symptom that is characterized by an inflammatory condition of the skin with redness, itching, and oozing vesicular lesions, which become scaly, crusted, or hardened. symptoms SYMP:0000289 eczema SYMP:0000289 A skin and integumentary tissue symptom that is characterized by an inflammatory condition of the skin with redness, itching, and oozing vesicular lesions, which become scaly, crusted, or hardened. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=eczema Belching is a digestive system symptom involving the sudden expulsion of gas from the stomach through the mouth. eructation symptoms SYMP:0000290 belching SYMP:0000290 Belching is a digestive system symptom involving the sudden expulsion of gas from the stomach through the mouth. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=belching symptoms SYMP:0000291 gas pain SYMP:0000291 SYMP:0000292 symptoms SYMP:0000292 heart failure SYMP:0000292 SYMP:0000293 A paralysis that is characterized by a weakness or the inability to move on one side of the body. symptoms SYMP:0000293 hemiparesis SYMP:0000293 A paralysis that is characterized by a weakness or the inability to move on one side of the body. url:https://www.stroke.org/en/about-stroke/effects-of-stroke/physical-effects-of-stroke/physical-impact/hemiparesis haemolysis symptoms SYMP:0000294 hemolysis SYMP:0000294 SYMP:0000295 hepatic abscess is a liver symptom characterized by a pus-filled mass in the liver that can develop from injury to the liver or an intraabdominal infection disseminated from the portal circulation. hepatic abscesses symptoms SYMP:0000295 hepatic abscess SYMP:0000295 hepatic abscess is a liver symptom characterized by a pus-filled mass in the liver that can develop from injury to the liver or an intraabdominal infection disseminated from the portal circulation. url:https://www.ncbi.nlm.nih.gov/books/NBK538230/#:~:text=A%20liver%20abscess%20is%20defined,caused%20by%20parasites%20and%20fungi. SYMP:0000296 symptoms SYMP:0000296 hepatic dysfunction SYMP:0000296 symptoms SYMP:0000297 hilar lymphadenitis SYMP:0000297 SYMP:0000298 symptoms SYMP:0000298 hoarse voice SYMP:0000298 Hyperemia is a hemic system symptom consisting of an excess of blood in a body part as from an increased flow of blood due to vasodilation. hyperaemia hyperemic symptoms SYMP:0000299 hyperemia SYMP:0000299 Hyperemia is a hemic system symptom consisting of an excess of blood in a body part as from an increased flow of blood due to vasodilation. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hyperemia SYMP:0000300 A sensation perception that is characterized by an increased sensitivity to stimulation. hyperaesthesia symptoms SYMP:0000300 hyperesthesia SYMP:0000300 A sensation perception that is characterized by an increased sensitivity to stimulation. url:http://www.nationalpainfoundation.org/MyTreatment/articles/Cancer_PainDefinitions.asp symptoms SYMP:0000301 doid/symp duplicate hypopyon SYMP:0000301 SYMP:0000302 A neurological and physiological symptom that is characterized by a subnormal temperature of the body, as defined by a temperature under 36.6 degrees Celcius (97.8 degrees Fahrenheit). symptoms SYMP:0000302 hypothermia SYMP:0000302 A neurological and physiological symptom that is characterized by a subnormal temperature of the body, as defined by a temperature under 36.6 degrees Celcius (97.8 degrees Fahrenheit). url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hypothermia SYMP:0000303 hypoxaemia symptoms SYMP:0000303 hypoxemia SYMP:0000303 A coordination symptom that is characterized by weakened or imperfect body complicated movement, which may be caused by disease, injury, or toxins. symptoms SYMP:0000304 impaired coordination SYMP:0000304 A coordination symptom that is characterized by weakened or imperfect body complicated movement, which may be caused by disease, injury, or toxins. url:https://www.healthline.com/health/movement-uncoordinated url:https://www.merckmanuals.com/home/brain,-spinal-cord,-and-nerve-disorders/movement-disorders/coordination-disorders symptoms SYMP:0000305 impaired gag reflex SYMP:0000305 A feeding difficulties and mismanagement that is characterized by a lack of feeding capacity. symptoms SYMP:0000306 inability to feed SYMP:0000306 A feeding difficulties and mismanagement that is characterized by a lack of feeding capacity. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2851259/ symptoms SYMP:0000307 inibility to stand SYMP:0000307 symptoms SYMP:0000308 inability to swallow SYMP:0000308 SYMP:0000309 An alteration of appetite that is characterized by a loss of desire to eat, i.e. no desire to eat. inappetence lack of appetite symptoms SYMP:0000309 loss of appetite SYMP:0000309 An alteration of appetite that is characterized by a loss of desire to eat, i.e. no desire to eat. url:https://www.merckmanuals.com/home/digestive-disorders/symptoms-of-digestive-disorders/loss-of-appetite symptoms SYMP:0000310 inflamed eyes SYMP:0000310 symptoms SYMP:0000311 intestinal hypermotility SYMP:0000311 symptoms SYMP:0000312 joint symptom SYMP:0000312 SYMP:0000313 symptoms SYMP:0000313 joint inflammation SYMP:0000313 SYMP:0000314 corneitis inflammation of the cornea of the eye symptoms SYMP:0000314 doid/symp duplicate keratitis SYMP:0000314 symptoms SYMP:0000315 lateroventral deviation of the head SYMP:0000315 symptoms SYMP:0000316 leg cramp SYMP:0000316 SYMP:0000318 A balance symptom that is characterized by an inability to stay upright and move confidently. Loss of balance may be due to problems in the inner ear, the brain, or the heart. Aging, infections, head injury, certain medicines, and problems with blood circulation may also cause balance problems. symptoms SYMP:0000318 loss of balance SYMP:0000318 A balance symptom that is characterized by an inability to stay upright and move confidently. Loss of balance may be due to problems in the inner ear, the brain, or the heart. Aging, infections, head injury, certain medicines, and problems with blood circulation may also cause balance problems. url:https://medlineplus.gov/balanceproblems.html url:https://www.nidcd.nih.gov/health/balance-disorders symptoms SYMP:0000319 loss of tendon reflex SYMP:0000319 symptoms SYMP:0000320 vision symptom SYMP:0000320 SYMP:0000321 symptoms SYMP:0000321 loss of vision SYMP:0000321 A weight symptom that is characterized by an infant weighing 5.5 pounds (2500 grams) or less at birth. Low birth weight may occur with premature birth, or due to smoking cigarettes, secondhand tobacco smoke exposure, drinking alcohol, and taking certain drugs during pregnancy. symptoms SYMP:0000322 low birth weight SYMP:0000322 A weight symptom that is characterized by an infant weighing 5.5 pounds (2500 grams) or less at birth. Low birth weight may occur with premature birth, or due to smoking cigarettes, secondhand tobacco smoke exposure, drinking alcohol, and taking certain drugs during pregnancy. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/low-birth-weight SYMP:0000323 A feces and droppings symptom that is characterized by the passage of dark tarry stools containing decomposing blood that is usually an indication of bleeding in the upper part of the alimentary canal and especially the esophagus, stomach, and duodenum. melaena symptoms SYMP:0000323 melena SYMP:0000323 A feces and droppings symptom that is characterized by the passage of dark tarry stools containing decomposing blood that is usually an indication of bleeding in the upper part of the alimentary canal and especially the esophagus, stomach, and duodenum. url:http://www.merriam-webster.com/medlineplus/melena A respiratory system and chest symptom that is characterized by an acute or chronic inflammation of the bronchial tubes. symptoms SYMP:0000324 doid/symp duplicate bronchitis SYMP:0000324 A respiratory system and chest symptom that is characterized by an acute or chronic inflammation of the bronchial tubes. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchitis symptoms SYMP:0000325 mild bronchitis SYMP:0000325 symptoms SYMP:0000326 mild hypotension SYMP:0000326 A convulsion that is characterized by a tonic spasm (prolonged contraction of the muscles), without loss of consciousness and often associated with hypocalcemia. tetanic convulsions symptoms SYMP:0000327 tetanic convulsion SYMP:0000327 A convulsion that is characterized by a tonic spasm (prolonged contraction of the muscles), without loss of consciousness and often associated with hypocalcemia. url:https://medical-dictionary.thefreedictionary.com/tetanic A tetanic convulsion that is not intense (not severe). symptoms SYMP:0000328 mild tetanic convulsion SYMP:0000328 A tetanic convulsion that is not intense (not severe). url:https://www.macmillandictionary.com/us/dictionary/american/mild_1 SYMP:0000329 symptoms SYMP:0000329 motor weakness SYMP:0000329 SYMP:0000330 symptoms SYMP:0000330 mouth sore SYMP:0000330 A pain that is characterized by a continuous or prolonged dull pain. symptoms SYMP:0000331 muscle ache SYMP:0000331 A pain that is characterized by a continuous or prolonged dull pain. url:https://www.merriam-webster.com/dictionary/ache symptoms SYMP:0000332 muscle soreness SYMP:0000332 SYMP:0000333 symptoms SYMP:0000333 muscle tenderness SYMP:0000333 symptoms SYMP:0000334 muscle necrosis SYMP:0000334 symptoms SYMP:0000335 neck weakness SYMP:0000335 symptoms SYMP:0000336 neurological dysfunction SYMP:0000336 SYMP:0000337 sleep hyperhidrosis symptoms SYMP:0000337 night sweats SYMP:0000337 SYMP:0000338 rapid involuntary rhythmic eye movement symptoms SYMP:0000338 nystagmus SYMP:0000338 symptoms SYMP:0000339 occasional diplopia SYMP:0000339 An adema that is characterized by an abnormal excess accumulation of serous fluid in connective tissue of the limbs. limb oedema oedema of the limbs symptoms SYMP:0000340 limb edema SYMP:0000340 An adema that is characterized by an abnormal excess accumulation of serous fluid in connective tissue of the limbs. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536506/ symptoms SYMP:0000342 slurred speech SYMP:0000342 A pain that is characterized by a pain situated, or occurring, in the lymph gland (lymph node). Pain is often associated with swelling of the gland, which is a sign that one's body is fighting an infection. painful lymph nodes symptoms SYMP:0000343 painful lymph glands SYMP:0000343 A pain that is characterized by a pain situated, or occurring, in the lymph gland (lymph node). Pain is often associated with swelling of the gland, which is a sign that one's body is fighting an infection. url:https://en.wikipedia.org/wiki/Lymph_node url:https://www.nhs.uk/conditions/swollen-glands/ url:https://www.webmd.com/a-to-z-guides/swollen-glands An adema that is characterized by an abnormal excess accumulation of serous fluid in connective tissue of the eyelids. edema of the eyelid symptoms SYMP:0000344 palpebral edema SYMP:0000344 An adema that is characterized by an abnormal excess accumulation of serous fluid in connective tissue of the eyelids. url:https://scopeheal.com/palpebral-edema/ A respiratory abnormality that is characterized by short, shallow, and rapid breathing. symptoms SYMP:0000345 panting respiration SYMP:0000345 A respiratory abnormality that is characterized by short, shallow, and rapid breathing. url:https://medical-dictionary.thefreedictionary.com/panting SYMP:0000346 A skin and integumentary tissue symptom that is characterized by a small solid usually conical elevation of the skin caused by inflammation, accumulated secretion, or hypertrophy of tissue elements. symptoms SYMP:0000346 papule SYMP:0000346 A skin and integumentary tissue symptom that is characterized by a small solid usually conical elevation of the skin caused by inflammation, accumulated secretion, or hypertrophy of tissue elements. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=papule paralysed lips symptoms SYMP:0000347 lip paralysis SYMP:0000347 symptoms SYMP:0000348 throat muscle paralysis SYMP:0000348 SYMP:0000349 A paralysis that is characterized by a complete, or partial, loss of function of the lower half of the body with involvement of both legs that is usually due to injury or disease of the spinal cord in the thoracic or lumbar region. symptoms SYMP:0000349 doid/symp duplicate paraplegia SYMP:0000349 A paralysis that is characterized by a complete, or partial, loss of function of the lower half of the body with involvement of both legs that is usually due to injury or disease of the spinal cord in the thoracic or lumbar region. url:https://www.merriam-webster.com/dictionary/paraplegia symptoms SYMP:0000350 parotid abscess SYMP:0000350 SYMP:0000352 symptoms SYMP:0000352 peripheral muscle weakness SYMP:0000352 A respiratory system and chest symptom that is characterized by a viscid mucus secreted in abnormal quantity in the respiratory passages. symptoms SYMP:0000353 phlegm SYMP:0000353 A respiratory system and chest symptom that is characterized by a viscid mucus secreted in abnormal quantity in the respiratory passages. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=phlegm SYMP:0000354 A respiratory system and chest symptom that is characterized by an inflammation of lung tissue. Pneumonia is one type of pneumonitis caused by an infection. Many other factors can cause pneumonitis, including breathing in animal dander, inhaling small food particles 'down the wrong pipe' and receiving radiation therapy to your chest. inflammation of lung tissue symptoms SYMP:0000354 pneumonitis SYMP:0000354 A respiratory system and chest symptom that is characterized by an inflammation of lung tissue. Pneumonia is one type of pneumonitis caused by an infection. Many other factors can cause pneumonitis, including breathing in animal dander, inhaling small food particles 'down the wrong pipe' and receiving radiation therapy to your chest. url:http://en.wikipedia.org/wiki/Pneumonitis SYMP:0000355 A feeding difficulties and mismanagement that is characterized by an infant with little interest in feeding and it can also refer to an infant who is not feeding enough to receive the necessary nutrition required for adequate growth. symptoms SYMP:0000355 poor feeding SYMP:0000355 A feeding difficulties and mismanagement that is characterized by an infant with little interest in feeding and it can also refer to an infant who is not feeding enough to receive the necessary nutrition required for adequate growth. url:https://www.healthline.com/health/poor-feeding-in-infants SYMP:0000356 inflammation of a vein symptoms SYMP:0000356 doid/symp duplicate phlebitis SYMP:0000356 symptoms SYMP:0000357 postphlebitic ulcer SYMP:0000357 A reproductive system symptom that is characterized by labor occurring before 37 full weeks of pregnancy. symptoms SYMP:0000358 premature labor SYMP:0000358 A reproductive system symptom that is characterized by labor occurring before 37 full weeks of pregnancy. url:http://www.ehealthmd.com/library/amniocentesis/AMO_glossary.html symptoms SYMP:0000359 profound weakness SYMP:0000359 SYMP:0000360 A wasting that is characterized by the state of being extremely thin as a result of an absence of body fat and very week as a result of muscle wasting; usually because of illness or extreme hunger. symptoms SYMP:0000360 emaciation SYMP:0000360 A wasting that is characterized by the state of being extremely thin as a result of an absence of body fat and very week as a result of muscle wasting; usually because of illness or extreme hunger. url:https://dictionary.cambridge.org/us/dictionary/english/emaciation url:https://en.wikipedia.org/wiki/Emaciation An emaciation that is characterized by an increase in scope or severity with time. symptoms SYMP:0000361 progressive emaciation SYMP:0000361 An emaciation that is characterized by an increase in scope or severity with time. url:https://www.rxlist.com/progressive/definition.htm symptoms SYMP:0000362 progressive prostration SYMP:0000362 SYMP:0000363 symptoms SYMP:0000363 progressive weakness SYMP:0000363 symptoms SYMP:0000364 prostate symptom SYMP:0000364 A prostate symptom that is characterized by a localized collection of purulent fluid within the prostate, often forming as a complication of acute bacterial prostatitis. symptoms SYMP:0000365 prostatic abscess SYMP:0000365 A prostate symptom that is characterized by a localized collection of purulent fluid within the prostate, often forming as a complication of acute bacterial prostatitis. url:https://www.ncbi.nlm.nih.gov/books/NBK551663/ A prostate symptom that is characterized by inflammation of the prostate and surrounding area. symptoms SYMP:0000366 prostatic infection SYMP:0000366 A prostate symptom that is characterized by inflammation of the prostate and surrounding area. url:https://www.healthline.com/health/prostate-infection# SYMP:0000367 A urinary system symptom characterized by the presence of excess protein in the urine. symptoms SYMP:0000367 doid/symp duplicate proteinuria SYMP:0000367 A urinary system symptom characterized by the presence of excess protein in the urine. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=proteinuria symptoms SYMP:0000368 proximal paralysis of arm and leg SYMP:0000368 SYMP:0000369 Ptosis is a general symptom characterized by a sagging or prolapse of an organ or part. droopiness symptoms SYMP:0000369 doid/symp duplicate - reviewed 10/2022, both DO & SYMP ptosis SYMP:0000369 Ptosis is a general symptom characterized by a sagging or prolapse of an organ or part. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ptosis A urinary system symptom that is characterized by a pocket (a walled-off cavity) of pus that develops in the kidney tissue. It results from the migration of bacteria from another infection site on the body to the kidneys. kidney abscess perirenal abscess symptoms SYMP:0000370 renal abscess SYMP:0000370 A urinary system symptom that is characterized by a pocket (a walled-off cavity) of pus that develops in the kidney tissue. It results from the migration of bacteria from another infection site on the body to the kidneys. url:https://www.uptodate.com/contents/renal-and-perinephric-abscess A paralysis that is characterized by a complete or severe weakness of the muscles of respiration. symptoms SYMP:0000371 respiratory paralysis SYMP:0000371 A paralysis that is characterized by a complete or severe weakness of the muscles of respiration. url:https://www.ncbi.nlm.nih.gov/mesh/68012133 SYMP:0000372 A nose symptom that is characterized by an excessive secretion of mucous through the nose. runny nose symptoms SYMP:0000372 rhinorrhea SYMP:0000372 A nose symptom that is characterized by an excessive secretion of mucous through the nose. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Rhinorrhea symptoms SYMP:0000373 salivation SYMP:0000373 A reproductive system symptom that is characterized by an abscess that is either superficial or intrascrotal. Superficial scrotal abscess may occur from an infected hair follicle, infection of a scrotal laceration, or minor scrotal surgery. Intrascrotal abscess most commonly arises from bacterial epididymitis, but may also be related to tuberculous infection of the epididymis, a testicular abscess that ruptures through the tunica albuginea, or drainage of appendicitis into scrotum through a patent processus vaginalis or as a result of extravasation of infected urine from the urethra in patients with a urethral stricture and neurogenic bladder using an external collection device. symptoms SYMP:0000374 scrotal abscess SYMP:0000374 A reproductive system symptom that is characterized by an abscess that is either superficial or intrascrotal. Superficial scrotal abscess may occur from an infected hair follicle, infection of a scrotal laceration, or minor scrotal surgery. Intrascrotal abscess most commonly arises from bacterial epididymitis, but may also be related to tuberculous infection of the epididymis, a testicular abscess that ruptures through the tunica albuginea, or drainage of appendicitis into scrotum through a patent processus vaginalis or as a result of extravasation of infected urine from the urethra in patients with a urethral stricture and neurogenic bladder using an external collection device. url:https://emedicine.medscape.com/article/1949750-overview SYMP:0000375 symptoms SYMP:0000375 severe abdominal cramp SYMP:0000375 SYMP:0000376 symptoms SYMP:0000376 severe diarrhea SYMP:0000376 A muscle pain that is characterized by being severe in nature. Myalgia may be acute in nature, stemming from overuse of a muscle group or viral infection. It may also be chronic and caused by metabolic myopathy, some nutritional deficiencies, and chronic fatigue syndrome. symptoms SYMP:0000379 severe myalgia SYMP:0000379 A muscle pain that is characterized by being severe in nature. Myalgia may be acute in nature, stemming from overuse of a muscle group or viral infection. It may also be chronic and caused by metabolic myopathy, some nutritional deficiencies, and chronic fatigue syndrome. url:https://en.wikipedia.org/wiki/Myalgia symptoms SYMP:0000381 spleen abscess SYMP:0000381 symptoms SYMP:0000382 staggering gait SYMP:0000382 SYMP:0000383 symptoms SYMP:0000383 stiff neck SYMP:0000383 cervicalgia symptoms SYMP:0000384 neck symptom SYMP:0000384 symptoms SYMP:0000385 throat symptom SYMP:0000385 symptoms SYMP:0000386 mouth symptom SYMP:0000386 symptoms SYMP:0000387 head symptom SYMP:0000387 symptoms SYMP:0000388 nose symptom SYMP:0000388 SYMP:0000389 An alteration of consciousness that is characterized by a lack of critical mental function and a level of consciousness, in which an affected person is almost entirely unresponsive and responds only to intense stimuli such as pain. symptoms SYMP:0000389 stupor SYMP:0000389 An alteration of consciousness that is characterized by a lack of critical mental function and a level of consciousness, in which an affected person is almost entirely unresponsive and responds only to intense stimuli such as pain. url:https://en.wikipedia.org/wiki/Stupor symptoms SYMP:0000390 thyroid symptom SYMP:0000390 symptoms SYMP:0000391 thyroid abscesses SYMP:0000391 symptoms SYMP:0000392 ear symptom SYMP:0000392 SYMP:0000393 sensation of noise symptoms SYMP:0000393 tinnitus SYMP:0000393 symptoms SYMP:0000394 muscle twitching SYMP:0000394 symptoms SYMP:0000395 facial muscle twitching SYMP:0000395 excessive pupil dilation prolonged pupil dilation symptoms SYMP:0000396 mydriasis SYMP:0000396 symptoms SYMP:0000397 unreactive mydriasis SYMP:0000397 A reproductive system symptom that is characterized by fluid made by glands inside the vagina and cervix carrying away dead cells and bacteria. While it is normal for odor and color to vary, vaginal itching or burning may be indicative of an infection. symptoms SYMP:0000398 doid/symp duplicate vaginal discharge SYMP:0000398 A reproductive system symptom that is characterized by fluid made by glands inside the vagina and cervix carrying away dead cells and bacteria. While it is normal for odor and color to vary, vaginal itching or burning may be indicative of an infection. url:https://www.merckmanuals.com/professional/gynecology-and-obstetrics/symptoms-of-gynecologic-disorders/vaginal-bleeding url:https://www.webmd.com/women/guide/vaginal-discharge-whats-abnormal SYMP:0000399 A dizziness that is characterized by a specific type of dizziness, a major symptom of a balance disorder. It is the sensation of spinning or swaying while the body is stationary with respect to the surroundings. symptoms SYMP:0000399 vertigo SYMP:0000399 A dizziness that is characterized by a specific type of dizziness, a major symptom of a balance disorder. It is the sensation of spinning or swaying while the body is stationary with respect to the surroundings. url:http://en.wikipedia.org/wiki/Vertigo_%28medical%29 symptoms SYMP:0000400 weak cry SYMP:0000400 symptoms SYMP:0000401 wobble SYMP:0000401 SYMP:0000402 A nutrition, metabolism, and development symptom that is characterized by a general physical wasting and malnutrition usually associated with chronic disease. general physical wasting and malnutrition symptoms SYMP:0000402 cachexia SYMP:0000402 A nutrition, metabolism, and development symptom that is characterized by a general physical wasting and malnutrition usually associated with chronic disease. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cachexia SYMP:0000403 A weight symptom that is characterized by an increase in body weight. This can involve an increase in muscle mass, fat deposits, excess fluids such as water or other factors. SYMP:0020015 gain of weight symptoms SYMP:0000403 weight gain SYMP:0000403 A weight symptom that is characterized by an increase in body weight. This can involve an increase in muscle mass, fat deposits, excess fluids such as water or other factors. url:https://en.wikipedia.org/wiki/Weight_gain# SYMP:0000404 difficult sexual intercourse painful sexual intercourse symptoms SYMP:0000404 dyspareunia SYMP:0000404 A reproductive system symptom that is characterized by a painful spasmodic contraction of the vagina. painful spasmodic vagina contractions symptoms SYMP:0000405 vaginismus SYMP:0000405 A reproductive system symptom that is characterized by a painful spasmodic contraction of the vagina. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vaginismus A skin and integumentary tissue symptom that is characterized by an injury transmitted through unbroken skin to underlying tissue causing rupture of small blood vessels and escape of blood into the tissue with resulting discoloration. bruises bruising contusion ecchymosis symptoms SYMP:0000406 bruise SYMP:0000406 A skin and integumentary tissue symptom that is characterized by an injury transmitted through unbroken skin to underlying tissue causing rupture of small blood vessels and escape of blood into the tissue with resulting discoloration. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bruise SYMP:0000407 An alteration of consciousness that is characterized by a loss of consciousness resulting from insufficient blood flow to the brain. SYMP:0000445 faint fainting loss of consciousness due to insuffiecient blood flow to the brain symptoms SYMP:0000407 syncope SYMP:0000407 An alteration of consciousness that is characterized by a loss of consciousness resulting from insufficient blood flow to the brain. url:https://en.wikipedia.org/wiki/Syncope_(medicine) url:https://www.merriam-webster.com/dictionary/fainting url:https://www.merriam-webster.com/dictionary/syncope Cataplexy is a muscle symptom characterized by a sudden loss of muscle control with retention of clear consciousness that follows a strong emotional stimulus (as elation, surprise, or anger) and is a characteristic symptom of narcolepsy. symptoms SYMP:0000408 cataplexy SYMP:0000408 Cataplexy is a muscle symptom characterized by a sudden loss of muscle control with retention of clear consciousness that follows a strong emotional stimulus (as elation, surprise, or anger) and is a characteristic symptom of narcolepsy. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cataplexy SYMP:0000409 A high fever that is characterized by an exceptionally high fever especially when induced artificially for therapeutic purposes. symptoms SYMP:0000409 hyperthermia SYMP:0000409 A high fever that is characterized by an exceptionally high fever especially when induced artificially for therapeutic purposes. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hyperthermia symptoms SYMP:0000410 neurological and physiological symptom SYMP:0000410 symptoms SYMP:0000411 infant symptom SYMP:0000411 SYMP:0000412 A neurological and physiological symptom that is characterized by a painful or apprehensive uneasiness of mind usually over an impending or anticipated ill. symptoms SYMP:0000412 anxiety SYMP:0000412 A neurological and physiological symptom that is characterized by a painful or apprehensive uneasiness of mind usually over an impending or anticipated ill. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=anxiety A neurological and physiological symptom that is characterized by a marked psychomotor disturbance that may involve stupor or mutism, negativism, rigidity, purposeless excitement, echolalia, echopraxia, and inappropriate or bizarre posturing and is associated with various medical conditions (as schizophrenia and mood disorders). symptoms SYMP:0000413 catatonia SYMP:0000413 A neurological and physiological symptom that is characterized by a marked psychomotor disturbance that may involve stupor or mutism, negativism, rigidity, purposeless excitement, echolalia, echopraxia, and inappropriate or bizarre posturing and is associated with various medical conditions (as schizophrenia and mood disorders). url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=catatonia SYMP:0000414 A neurological and physiological symptom that is characterized by a difficulty in articulating words due to disease of the central nervous system. symptoms SYMP:0000414 dysarthria SYMP:0000414 A neurological and physiological symptom that is characterized by a difficulty in articulating words due to disease of the central nervous system. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dysarthria symptoms SYMP:0000415 amaurosis fugax SYMP:0000415 symptoms SYMP:0000416 amaurosis SYMP:0000416 symptoms SYMP:0000417 pupil symptom SYMP:0000417 symptoms SYMP:0000418 contracted pupil SYMP:0000418 symptoms SYMP:0000419 miosis SYMP:0000419 SYMP:0000420 Bloating is a digestive system symptom involving the accumulation of gas in the digestive tract and resulting in abdominal distension. symptoms SYMP:0000420 bloating SYMP:0000420 Bloating is a digestive system symptom involving the accumulation of gas in the digestive tract and resulting in abdominal distension. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bloating SYMP:0000421 hematochezia is a feces and droppings symptom characterized by the passage of fresh blood per anus, usually in or with stools. symptoms SYMP:0000421 hematochezia SYMP:0000421 hematochezia is a feces and droppings symptom characterized by the passage of fresh blood per anus, usually in or with stools. url:https://www.ncbi.nlm.nih.gov/books/NBK411/#A2794 SYMP:0000422 Dyspepsia is a digestive system symptom referred to as indigestion resulting from an impairment to digestion caused by ulcer, gall bladder disease or inflamed colon. Related symptoms include weakness, loss of appetite, and depression. indigestion symptoms SYMP:0000422 doid/symp duplicate dyspepsia SYMP:0000422 Dyspepsia is a digestive system symptom referred to as indigestion resulting from an impairment to digestion caused by ulcer, gall bladder disease or inflamed colon. Related symptoms include weakness, loss of appetite, and depression. url:http://www.rootsweb.ancestry.com/~vapage2/deathcauses.htm From synonym: Heartburn is a pain characterized by a painful burning feeling in your chest or throat that happens when stomach acid backs up into your esophagus. SYMP:0000439 acid indigestion heartburn symptoms SYMP:0000423 pyrosis SYMP:0000423 From synonym: Heartburn is a pain characterized by a painful burning feeling in your chest or throat that happens when stomach acid backs up into your esophagus. url:https://medlineplus.gov/heartburn.html A pain that is characterized by a leg pain in the calf, or thigh, which is caused by inadequate blood flow to the leg muscles and is brought on by leg exercise such as walking. blockage of leg arteries symptoms SYMP:0000424 claudication SYMP:0000424 A pain that is characterized by a leg pain in the calf, or thigh, which is caused by inadequate blood flow to the leg muscles and is brought on by leg exercise such as walking. url:http://www.nature.com/nrd/journal/v2/n1/glossary/nrd985_glossary.html url:http://www.vasculardoc.net/content/glossary.html symptoms SYMP:0000425 reticulocytosis SYMP:0000425 symptoms SYMP:0000426 macrocytosis SYMP:0000426 A respiratory abnormality that is characterized by a deficient ventilation of the lungs that results in reduction in the oxygen content or increase in the carbon dioxide content of the blood or both. symptoms SYMP:0000428 hypoventilation SYMP:0000428 A respiratory abnormality that is characterized by a deficient ventilation of the lungs that results in reduction in the oxygen content or increase in the carbon dioxide content of the blood or both. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hypoventilation A respiratory abnormality that is characterized by abnormally slow breathing. abnormally slow breathing symptoms SYMP:0000429 bradypnea SYMP:0000429 A respiratory abnormality that is characterized by abnormally slow breathing. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bradypnea SYMP:0000430 A chest pain that is characterized by an inflammation of the pleural cavity with a sharp pain resulting from the exansion of the lungs as the inflammed pleural layers rub against each other. symptoms SYMP:0000430 pleuritic chest pain SYMP:0000430 A chest pain that is characterized by an inflammation of the pleural cavity with a sharp pain resulting from the exansion of the lungs as the inflammed pleural layers rub against each other. url:http://en.wikipedia.org/wiki/Pleuritic_chest_pain url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pleurisy A respiratory system and chest symptom that is characterized by matter discharged from the air passages in diseases of the lungs, bronchi, or upper respiratory tract that contains mucus and often pus, blood, fibrin, or bacterial products. sputum production symptoms SYMP:0000431 sputum SYMP:0000431 A respiratory system and chest symptom that is characterized by matter discharged from the air passages in diseases of the lungs, bronchi, or upper respiratory tract that contains mucus and often pus, blood, fibrin, or bacterial products. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sputum SYMP:0000432 A skin and integumentary tissue symptom that is characterized by an uneasy irritating sensation in the upper surface of the skin usually held to result from mild stimulation of pain receptors. pruritus symptoms SYMP:0000432 itching SYMP:0000432 A skin and integumentary tissue symptom that is characterized by an uneasy irritating sensation in the upper surface of the skin usually held to result from mild stimulation of pain receptors. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=itching SYMP:0000433 Anasarca is a edema characterized as generalized edema with accumulation of serum in the connective tissue. generalized edema symptoms SYMP:0000433 anasarca SYMP:0000433 Anasarca is a edema characterized as generalized edema with accumulation of serum in the connective tissue. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=anasarca SYMP:0000434 A skin and integumentary tissue symptom that is characterized by raised red skin wheals (welts) commonly caused by an allergic reaction with wheals that may vary in size from about 5 mm (0.2 inches) in diameter to the size of a dinner plate that are described as severely itchy a stingnig or burning sensation, and having a pale border. hives nettle rash uredo symptoms SYMP:0000434 doid/symp duplicate urticaria SYMP:0000434 A skin and integumentary tissue symptom that is characterized by raised red skin wheals (welts) commonly caused by an allergic reaction with wheals that may vary in size from about 5 mm (0.2 inches) in diameter to the size of a dinner plate that are described as severely itchy a stingnig or burning sensation, and having a pale border. url:http://en.wikipedia.org/wiki/Urticaria SYMP:0000435 A skin and integumentary tissue symptom that is characterized by a sensation of pricking, tingling, or creeping on the skin having no objective cause and usually associated with injury or irritation of a sensory nerve or nerve root. symptoms SYMP:0000435 paresthesia SYMP:0000435 A skin and integumentary tissue symptom that is characterized by a sensation of pricking, tingling, or creeping on the skin having no objective cause and usually associated with injury or irritation of a sensory nerve or nerve root. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=paresthesia SYMP:0000436 A reproductive system symptom that is characterized by bleeding from the uterus that is longer than usual or that occurs at an irregular time. Bleeding may be heavier or lighter than usual and occur often or randomly. abnormal menstruation symptoms SYMP:0000436 abnormal vaginal bleeding SYMP:0000436 A reproductive system symptom that is characterized by bleeding from the uterus that is longer than usual or that occurs at an irregular time. Bleeding may be heavier or lighter than usual and occur often or randomly. url:https://medlineplus.gov/ency/article/000903.htm symptoms SYMP:0000437 earache SYMP:0000437 A pain that is characterized by a pain in, or about, a tooth or teeth. symptoms SYMP:0000438 toothache SYMP:0000438 A pain that is characterized by a pain in, or about, a tooth or teeth. url:https://www.merriam-webster.com/dictionary/toothache SYMP:0000440 A hair symptom that is characterized by the stopping of hair growth (regeneration), which may be a result of hereditary hair loss, immune system overreacts, drugs and treatments, harsh hair-care products, and other factors. symptoms SYMP:0000440 hair loss SYMP:0000440 A hair symptom that is characterized by the stopping of hair growth (regeneration), which may be a result of hereditary hair loss, immune system overreacts, drugs and treatments, harsh hair-care products, and other factors. url:https://www.aad.org/public/diseases/hair-loss/insider/shedding A joint pain that is characterized by a pain situated, or occurring, in or around the elbow. symptoms SYMP:0000441 elbow pain SYMP:0000441 A joint pain that is characterized by a pain situated, or occurring, in or around the elbow. url:https://medlineplus.gov/ency/article/003172.htm A joint pain that is characterized by a pain situated, or occurring, in or around the knee. symptoms SYMP:0000442 knee pain SYMP:0000442 A joint pain that is characterized by a pain situated, or occurring, in or around the knee. url:https://medlineplus.gov/ency/article/003187.htm SYMP:0000443 A joint pain that is characterized by a pain situated, or occurring, in or around the shoulder. symptoms SYMP:0000443 shoulder pain SYMP:0000443 A joint pain that is characterized by a pain situated, or occurring, in or around the shoulder. url:https://medlineplus.gov/ency/article/003171.htm symptoms SYMP:0000444 nail discoloration SYMP:0000444 SYMP:0000446 red eye redness of eye symptoms SYMP:0000446 bloodshot eye SYMP:0000446 SYMP:0000447 A sputum that is characterized by blood or bloody mucus discharged from the air passages caused by common forms of infection in the lungs and airways, such as acute bronchitis or pneumonia. Bloody sputum can also come from cancer of the lung. symptoms SYMP:0000447 Bloody sputum (spitting up blood or bloody mucus) can come from common forms of infection in the lungs and airways, such as acute bronchitis or pneumonia. Bloody sputum can also come from cancer of the lung. bloody sputum SYMP:0000447 A sputum that is characterized by blood or bloody mucus discharged from the air passages caused by common forms of infection in the lungs and airways, such as acute bronchitis or pneumonia. Bloody sputum can also come from cancer of the lung. url:http://www.medicinenet.com/symptoms_and_signs/article.htm url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sputum SYMP:0000448 A nose symptom that involves a is loss of blood from the tissue lining the nose. ICD9CM_2005:784.7 UMLS_CUI:C0014591 UMLS_ICD9CM_2005_AUI:A0055387 nosebleed symptoms SYMP:0000448 epistaxis SYMP:0000448 A nose symptom that involves a is loss of blood from the tissue lining the nose. url:http://www.nlm.nih.gov/medlineplus/ency/article/003106.htm ICD9CM_2005:785.51 UMLS_CUI:C0036980 UMLS_ICD9CM_2005_AUI:A0243814 symptoms SYMP:0000449 cardiogenic shock SYMP:0000449 SYMP:0000450 A cardiovascular system symptom that is characterized as a state of profound depression of the vital processes of the body that is characterized by pallor, rapid but weak pulse, rapid and shallow respiration, reduced total blood volume, and low blood pressure and that is caused usually by severe especially crushing injuries, hemorrhage, burns, or major surgery. ICD9CM_2005:785.5 UMLS_CUI:C0159051 UMLS_ICD9CM_2005_AUI:A0284197 symptoms SYMP:0000450 shock SYMP:0000450 A cardiovascular system symptom that is characterized as a state of profound depression of the vital processes of the body that is characterized by pallor, rapid but weak pulse, rapid and shallow respiration, reduced total blood volume, and low blood pressure and that is caused usually by severe especially crushing injuries, hemorrhage, burns, or major surgery. url:http://www.merriam-webster.com/medlineplus/shock ICD9CM_2005:785.52 UMLS_CUI:C0036983 symptoms SYMP:0000451 septic shock SYMP:0000451 ICD9CM_2005:786.4 UMLS_CUI:C0159054 UMLS_ICD9CM_2005_AUI:A0284206 symptoms SYMP:0000452 abnormal sputum SYMP:0000452 ICD9CM_2005:789.41 UMLS_CUI:C0375565 symptoms SYMP:0000453 right upper quadrant abdominal rigidity SYMP:0000453 ICD9CM_2005:789.4 ICD9CM_2005:789.40 UMLS_CUI:C0159066 UMLS_ICD9CM_2005_AUI:A0284272 UMLS_ICD9CM_2005_AUI:A0637149 symptoms SYMP:0000454 abdominal rigidity SYMP:0000454 A weight gain that is characterized as deviating from what is normal or usual, typically in a way that is undesirable or worrying. ICD9CM_2005:783.1 UMLS_CUI:C0332544 UMLS_ICD9CM_2005_AUI:A0243789 symptoms SYMP:0000455 abnormal weight gain SYMP:0000455 A weight gain that is characterized as deviating from what is normal or usual, typically in a way that is undesirable or worrying. url:https://www.merriam-webster.com/dictionary/abnormal An abdominal pain that is characterized by occurring in the left upper quadrant abdominal pain of the abdomen that can be caused by a stomach ulcer, acute gastritis, a viral infection, or indigestion, or may be an issue with one's lungs. ICD9CM_2005:789.02 UMLS_CUI:C0238552 UMLS_ICD9CM_2005_AUI:A0637133 symptoms SYMP:0000456 left upper quadrant abdominal pain SYMP:0000456 An abdominal pain that is characterized by occurring in the left upper quadrant abdominal pain of the abdomen that can be caused by a stomach ulcer, acute gastritis, a viral infection, or indigestion, or may be an issue with one's lungs. url:https://www.buoyhealth.com/learn/pain-upper-left-abdomen SYMP:0000457 A pain that is characterized by occurring in the abdomen, i.e. between the chest and groin. ICD9CM_2005:789.0 ICD9CM_2005:789.00 UMLS_CUI:C0000737 UMLS_ICD9CM_2005_AUI:A0387333 UMLS_ICD9CM_2005_AUI:A0637138 symptoms SYMP:0000457 abdominal pain SYMP:0000457 A pain that is characterized by occurring in the abdomen, i.e. between the chest and groin. url:https://medlineplus.gov/ency/article/003120.htm SYMP:0000458 Nausea is a digestive system symptom characterized by an uneasy or unsettled feeling in the stomach together with an urge to vomit. ICD9CM_2005:787.02 UMLS_CUI:C0375548 UMLS_ICD9CM_2005_AUI:A0750850 symptoms SYMP:0000458 nausea SYMP:0000458 Nausea is a digestive system symptom characterized by an uneasy or unsettled feeling in the stomach together with an urge to vomit. url:http://www.nlm.nih.gov/medlineplus/nauseaandvomiting.html ICD9CM_2005:787 UMLS_CUI:C0159058 UMLS_ICD9CM_2005_AUI:A0284224 symptoms SYMP:0000459 digestive system symptom SYMP:0000459 SYMP:0000460 ICD9CM_2005:789.1 UMLS_CUI:C0019209 UMLS_ICD9CM_2005_AUI:A0067592 enlargement of the liver symptoms SYMP:0000460 hepatomegaly SYMP:0000460 ICD9CM_2005:789 ICD9CM_2005:789.9 UMLS_CUI:C0159065 UMLS_ICD9CM_2005_AUI:A0284267 UMLS_ICD9CM_2005_AUI:A0284268 symptoms SYMP:0000461 abdominal symptom SYMP:0000461 SYMP:0000462 A symptom is a perceived change in function, sensation, loss, disturbance or appearance reported by a patient indicative of a disease. symptoms SYMP:0000462 symptom SYMP:0000462 A symptom is a perceived change in function, sensation, loss, disturbance or appearance reported by a patient indicative of a disease. url:https://link.springer.com/chapter/10.1007/978-1-4615-4789-1_5 url:https://www.merriam-webster.com/dictionary/symptom url:https://www.nature.com/subjects/signs-and-symptoms ICD9CM_2005:783.40 UMLS_CUI:C0878706 UMLS_ICD9CM_2005_AUI:A1892807 symptoms SYMP:0000463 lack of normal physiological development SYMP:0000463 ICD9CM_2005:783.4 UMLS_CUI:C0878753 UMLS_ICD9CM_2005_AUI:A1892806 symptoms SYMP:0000464 lack of expected normal physiological development in childhood SYMP:0000464 SYMP:0000465 A lack of expected normal physiological development in childhood that is characterized by a decelerated or arrested physical growth (height and weight measurements fall below the third or fifth percentile, or a downward change in growth across two major growth percentiles) and is associated with abnormal growth and development. ICD9CM_2005:783.41 UMLS_CUI:C0015544 UMLS_ICD9CM_2005_AUI:A0700791 symptoms SYMP:0000465 failure to thrive SYMP:0000465 A lack of expected normal physiological development in childhood that is characterized by a decelerated or arrested physical growth (height and weight measurements fall below the third or fifth percentile, or a downward change in growth across two major growth percentiles) and is associated with abnormal growth and development. url:https://www.chop.edu/conditions-diseases/failure-thrive A lack of expected normal physiological development in childhood that is characterized by a failure for a child to reach a significant stage at the predicted age and may include walking or talking. ICD9CM_2005:783.42 UMLS_CUI:C0476241 UMLS_ICD9CM_2005_AUI:A1594577 developmental delay symptoms SYMP:0000466 delayed milestones SYMP:0000466 A lack of expected normal physiological development in childhood that is characterized by a failure for a child to reach a significant stage at the predicted age and may include walking or talking. url:https://en.wikipedia.org/wiki/Delayed_milestone ICD9CM_2005:789.43 UMLS_CUI:C0375567 symptoms SYMP:0000467 right lower quadrant abdominal rigidity SYMP:0000467 ICD9CM_2005:789.47 UMLS_CUI:C0375571 UMLS_ICD9CM_2005_AUI:A0637142 symptoms SYMP:0000468 generalized abdominal rigidity SYMP:0000468 ICD9CM_2005:789.46 UMLS_CUI:C0375570 UMLS_ICD9CM_2005_AUI:A0637141 symptoms SYMP:0000469 epigastric abdominal rigidity SYMP:0000469 SYMP:0000470 ICD9CM_2005:789.42 UMLS_CUI:C0375566 UMLS_ICD9CM_2005_AUI:A0637144 symptoms SYMP:0000470 left upper quadrant abdominal rigidity SYMP:0000470 ICD9CM_2005:789.49 UMLS_CUI:C0375572 UMLS_ICD9CM_2005_AUI:A0637145 symptoms SYMP:0000471 multiple sites abdominal rigidity SYMP:0000471 A nutrition, metabolism, and development symptom that is characterized by a feeling of being full after a few bites of food, or before you finish a normal-sized meal. ICD9CM_2005:780.94 UMLS_CUI:C0239233 UMLS_ICD9CM_2005_AUI:A2797496 symptoms SYMP:0000472 early satiety SYMP:0000472 A nutrition, metabolism, and development symptom that is characterized by a feeling of being full after a few bites of food, or before you finish a normal-sized meal. url:https://www.healthline.com/health/satiety-early ICD9CM_2005:783 UMLS_CUI:C0159041 UMLS_ICD9CM_2005_AUI:A0284163 symptoms SYMP:0000473 nutrition, metabolism, and development symptom SYMP:0000473 SYMP:0000475 A weight symptom that is characterized by weighing less than the normal amount for one's age, height, and build. ICD9CM_2005:783.22 UMLS_CUI:C0041667 UMLS_ICD9CM_2005_AUI:A0468826 symptoms SYMP:0000475 underweight SYMP:0000475 A weight symptom that is characterized by weighing less than the normal amount for one's age, height, and build. url:https://www.merriam-webster.com/dictionary/underweight ICD9CM_2005:789.36 UMLS_CUI:C0375562 UMLS_ICD9CM_2005_AUI:A0637121 symptoms SYMP:0000477 epigastric abdominal swelling SYMP:0000477 SYMP:0000478 ICD9CM_2005:789.3 UMLS_CUI:C0476310 UMLS_ICD9CM_2005_AUI:A0243858 symptoms SYMP:0000478 abdominal swelling SYMP:0000478 SYMP:0000479 Abnormality of gait is a nervous system and musculoskeletal system symptom characterized by a difficulty in the manner of walking or moving on foot. ICD9CM_2005:781.2 UMLS_CUI:C0575081 UMLS_ICD9CM_2005_AUI:A0243767 symptoms SYMP:0000479 abnormality of gait SYMP:0000479 Abnormality of gait is a nervous system and musculoskeletal system symptom characterized by a difficulty in the manner of walking or moving on foot. url:http://www.merriam-webster.com/dictionary/gait ICD9CM_2005:781 UMLS_CUI:C0159033 UMLS_ICD9CM_2005_AUI:A0284131 symptoms SYMP:0000480 nervous system symptom SYMP:0000480 An alteration of consciousness that is characterized by an individual with severe brain damage being in a state of partial arousal rather than true awareness. After four weeks in a vegetative state, the patient is classified as being in a persistent vegetative state. After three months in the US and six months in the UK, the diagnosis is classified as a permanent vegetative state after a non-traumatic brain injury, or, one year after a traumatic injury. ICD9CM_2005:780.03 UMLS_CUI:C0242670 UMLS_ICD9CM_2005_AUI:A0446160 symptoms SYMP:0000481 persistent vegetative state SYMP:0000481 An alteration of consciousness that is characterized by an individual with severe brain damage being in a state of partial arousal rather than true awareness. After four weeks in a vegetative state, the patient is classified as being in a persistent vegetative state. After three months in the US and six months in the UK, the diagnosis is classified as a permanent vegetative state after a non-traumatic brain injury, or, one year after a traumatic injury. url:https://en.wikipedia.org/wiki/Persistent_vegetative_state SYMP:0000482 A neurological and physiological symptom that is characterized by any condition which is significantly different from a normal waking state. ICD9CM_2005:780.0 UMLS_CUI:C0234428 UMLS_ICD9CM_2005_AUI:A0389211 symptoms SYMP:0000482 alteration of consciousness SYMP:0000482 A neurological and physiological symptom that is characterized by any condition which is significantly different from a normal waking state. url:https://en.wikipedia.org/wiki/Altered_state_of_consciousness ICD9CM_2005:789.64 UMLS_CUI:C0238565 UMLS_ICD9CM_2005_AUI:A0637155 symptoms SYMP:0000483 left lower quadrant abdominal tenderness SYMP:0000483 SYMP:0000484 ICD9CM_2005:789.6 ICD9CM_2005:789.60 UMLS_CUI:C0232498 UMLS_ICD9CM_2005_AUI:A0387353 UMLS_ICD9CM_2005_AUI:A0637161 symptoms SYMP:0000484 abdominal tenderness SYMP:0000484 SYMP:0000485 A urinary system symptom that is characterized by the difficult, or painful, discharge of urine. ICD9CM_2005:788.1 UMLS_CUI:C0013428 UMLS_ICD9CM_2005_AUI:A0004041 difficult urine discharge painful urine discharge symptoms SYMP:0000485 dysuria SYMP:0000485 A urinary system symptom that is characterized by the difficult, or painful, discharge of urine. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dysuria ICD9CM_2005:788 UMLS_CUI:C0476293 UMLS_ICD9CM_2005_AUI:A0284245 symptoms SYMP:0000486 urinary system symptom SYMP:0000486 SYMP:0000487 A skin and integumentary tissue symptom that is characterized by an eruption on the body typically with little or no elevation above the surface. ICD9CM_2005:782.1 UMLS_CUI:C0015230 UMLS_ICD9CM_2005_AUI:A0243780 erythema rubor skin eruption skin rash skin redness symptoms SYMP:0000487 rash SYMP:0000487 A skin and integumentary tissue symptom that is characterized by an eruption on the body typically with little or no elevation above the surface. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rash A skin and integumentary tissue symptom that is characterized by the outer layer of the skin starting to replace itself. Often, this happens when skin is damaged, either by disease or injury. ICD9CM_2005:782 ICD9CM_2005:782.9 UMLS_CUI:C0159037 UMLS_ICD9CM_2005_AUI:A0284146 UMLS_ICD9CM_2005_AUI:A0284161 symptoms SYMP:0000488 skin and integumentary tissue symptom SYMP:0000488 A skin and integumentary tissue symptom that is characterized by the outer layer of the skin starting to replace itself. Often, this happens when skin is damaged, either by disease or injury. url:https://www.medicinenet.com/peeling_skin/symptoms.htm url:https://www.webmd.com/skin-problems-and-treatments/what-know-about-peeling-skin-desquamation ICD9CM_2005:787.5 UMLS_CUI:C0159060 UMLS_ICD9CM_2005_AUI:A0284234 symptoms SYMP:0000489 abnormal bowel sound SYMP:0000489 ICD9CM_2005:789.69 UMLS_CUI:C0375574 UMLS_ICD9CM_2005_AUI:A0637157 symptoms SYMP:0000490 multiple sites abdominal tenderness SYMP:0000490 ICD9CM_2005:788.37 UMLS_CUI:C0375553 UMLS_ICD9CM_2005_AUI:A0679310 symptoms SYMP:0000491 continuous leakage of urine SYMP:0000491 SYMP:0000492 A urinary system symptom that is characterized by the an inability of the body to control the evacuative functions. ICD9CM_2005:788.3 ICD9CM_2005:788.30 UMLS_CUI:C0042024 UMLS_ICD9CM_2005_AUI:A0814766 UMLS_ICD9CM_2005_AUI:A6994675 incontinence symptoms SYMP:0000492 urinary incontinence SYMP:0000492 A urinary system symptom that is characterized by the an inability of the body to control the evacuative functions. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=incontinence SYMP:0000493 ICD9CM_2005:787.2 UMLS_CUI:C0011168 UMLS_ICD9CM_2005_AUI:A0052114 difficulty in swallowing difficulty swallowing impaired swallowing symptoms SYMP:0000493 dysphagia SYMP:0000493 A colic that is characterized by a severe pain produced by the passage of a calculus from the kidney through the ureter. ICD9CM_2005:788.0 UMLS_CUI:C0152169 UMLS_ICD9CM_2005_AUI:A0265344 symptoms SYMP:0000494 renal colic SYMP:0000494 A colic that is characterized by a severe pain produced by the passage of a calculus from the kidney through the ureter. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=renal%20colic A urinary system symptom that is characterized by abnormal purulent or mucoid secretions from the penis or, rarely, the female urethra. ICD9CM_2005:788.7 UMLS_CUI:C0152447 UMLS_ICD9CM_2005_AUI:A0266251 symptoms SYMP:0000495 urethral discharge SYMP:0000495 A urinary system symptom that is characterized by abnormal purulent or mucoid secretions from the penis or, rarely, the female urethra. url:https://accessmedicine.mhmedical.com/content.aspx?bookid=369&sectionid=39914779#:~:text=Urethral%20discharge%20is%20characterized%20by,of%20leukorrhea%20and%20urethral%20inflammation ICD9CM_2005:789.66 UMLS_CUI:C0239280 UMLS_ICD9CM_2005_AUI:A0637153 symptoms SYMP:0000496 epigastric abdominal tenderness SYMP:0000496 ICD9CM_2005:789.65 UMLS_CUI:C0375573 UMLS_ICD9CM_2005_AUI:A0637158 symptoms SYMP:0000497 periumbilic abdominal tenderness SYMP:0000497 ICD9CM_2005:789.67 UMLS_CUI:C0302540 UMLS_ICD9CM_2005_AUI:A0637154 symptoms SYMP:0000498 generalized abdominal tenderness SYMP:0000498 ICD9CM_2005:789.61 UMLS_CUI:C0238571 symptoms SYMP:0000499 right upper quadrant abdominal tenderness SYMP:0000499 SYMP:0000500 ICD9CM_2005:789.63 UMLS_CUI:C0238570 symptoms SYMP:0000500 right lower quadrant abdominal tenderness SYMP:0000500 ICD9CM_2005:789.34 UMLS_CUI:C0375560 UMLS_ICD9CM_2005_AUI:A0637123 symptoms SYMP:0000501 left lower quadrant abdominal swelling SYMP:0000501 A urinary incontinence that is characterized by urine leakage when you sneeze, cough, laugh, do jarring exercise, or lift something heavy. It is typically a combination of stress and urge incontinence. ICD9CM_2005:788.33 UMLS_CUI:C0375550 UMLS_ICD9CM_2005_AUI:A0745756 symptoms SYMP:0000502 mixed incontinence (female) (male) SYMP:0000502 A urinary incontinence that is characterized by urine leakage when you sneeze, cough, laugh, do jarring exercise, or lift something heavy. It is typically a combination of stress and urge incontinence. url:https://www.webmd.com/urinary-incontinence-oab/mixed-incontinence url:https://www.health.harvard.edu/bladder-and-bowel/types-of-urinary-incontinence A nutrition, metabolism, and development symptom that is characterized by a physical decline in health seen in older adults – typically those with multiple chronic medical conditions – resulting in decreased appetite and poor nutrition, weight loss, inactivity, often accompanied by dehydration, depression, decreasing functional ability, and impaired immune function. ICD9CM_2005:783.7 UMLS_CUI:C1268580 UMLS_ICD9CM_2005_AUI:A1892736 symptoms SYMP:0000503 adult failure to thrive SYMP:0000503 A nutrition, metabolism, and development symptom that is characterized by a physical decline in health seen in older adults – typically those with multiple chronic medical conditions – resulting in decreased appetite and poor nutrition, weight loss, inactivity, often accompanied by dehydration, depression, decreasing functional ability, and impaired immune function. url:https://www.compassus.com/for-caregivers/what-is-adult-failure-to-thrive url:https://www.uptodate.com/contents/failure-to-thrive-in-older-adults-evaluation SYMP:0000504 A pain that is characterized by a pain in the head. ICD9CM_2005:784.0 UMLS_CUI:C0018681 UMLS_ICD9CM_2005_AUI:A0065994 cephalalgia symptoms SYMP:0000504 headache SYMP:0000504 A pain that is characterized by a pain in the head. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=headache A pain that is characterized by a painful throat due to inflammation of the fauces and pharynx. ICD9CM_2005:784.1 UMLS_CUI:C0242429 UMLS_ICD9CM_2005_AUI:A0284175 sore throat symptoms SYMP:0000505 throat pain SYMP:0000505 A pain that is characterized by a painful throat due to inflammation of the fauces and pharynx. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sore%20throat ICD9CM_2005:784.8 UMLS_CUI:C0576995 UMLS_ICD9CM_2005_AUI:A0284188 symptoms SYMP:0000506 hemorrhage from throat SYMP:0000506 ICD9CM_2005:784.2 UMLS_CUI:C0159045 UMLS_ICD9CM_2005_AUI:A0284180 symptoms SYMP:0000507 head swelling SYMP:0000507 SYMP:0000508 A nervous system symptom that is characterized by a loss or impairment of the power to use or comprehend words usually resulting from brain damage. ICD9CM_2005:784.3 UMLS_CUI:C0003537 UMLS_ICD9CM_2005_AUI:A0025556 inability to comprehend language symptoms SYMP:0000508 doid/symp duplicate aphasia SYMP:0000508 A nervous system symptom that is characterized by a loss or impairment of the power to use or comprehend words usually resulting from brain damage. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aphasia SYMP:0000708 ICD9CM_2005:787.3 UMLS_CUI:C0016205 UMLS_ICD9CM_2005_AUI:A0243846 gas gas production symptoms SYMP:0000509 flatulence SYMP:0000509 SYMP:0000510 A skin and integumentary tissue symptom that is characterized by a deficiency of color especially of the face. ICD9CM_2005:782.61 UMLS_CUI:C0030232 UMLS_ICD9CM_2005_AUI:A0096956 paleness symptoms SYMP:0000510 pallor SYMP:0000510 A skin and integumentary tissue symptom that is characterized by a deficiency of color especially of the face. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pallor SYMP:0000511 A skin and integumentary tissue symptom that is characterized by a markedly red flush in a persons face and often other areas of the skin, from various physiological conditions. Flushing is generally distinguished, despite a close physiological relation between them, from blushing, which is milder, generally restricted to the face or cheeks, and generally assumed to reflect embarrassment. Flushing is also a cardinal symptom of carcinoid syndrome the syndrome that results from hormones (often serotonin or histamine) being secreted into systemic circulation. ICD9CM_2005:782.62 UMLS_CUI:C0016382 UMLS_ICD9CM_2005_AUI:A0060138 symptoms SYMP:0000511 flushing SYMP:0000511 A skin and integumentary tissue symptom that is characterized by a markedly red flush in a persons face and often other areas of the skin, from various physiological conditions. Flushing is generally distinguished, despite a close physiological relation between them, from blushing, which is milder, generally restricted to the face or cheeks, and generally assumed to reflect embarrassment. Flushing is also a cardinal symptom of carcinoid syndrome the syndrome that results from hormones (often serotonin or histamine) being secreted into systemic circulation. url:http://en.wikipedia.org/wiki/Flushing_%28physiology%29 A stress incontinence that is characterized by a compromised external urinary sphincter muscle resulting from surgical or radiotherapeutic manipulation. ICD9CM_2005:788.32 UMLS_CUI:C0302505 UMLS_ICD9CM_2005_AUI:A0800441 symptoms SYMP:0000512 male stress incontinence SYMP:0000512 A stress incontinence that is characterized by a compromised external urinary sphincter muscle resulting from surgical or radiotherapeutic manipulation. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356867/ SYMP:0000513 An abnormal chest sound that is characterized by a harsh vibrating sound heard during respiration in cases of obstruction of the air passages. ICD9CM_2005:786.1 UMLS_CUI:C0038450 UMLS_ICD9CM_2005_AUI:A0120146 symptoms SYMP:0000513 stridor SYMP:0000513 An abnormal chest sound that is characterized by a harsh vibrating sound heard during respiration in cases of obstruction of the air passages. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=stridor ICD9CM_2005:786 UMLS_CUI:C0476271 UMLS_ICD9CM_2005_AUI:A0284200 symptoms SYMP:0000514 respiratory system and chest symptom SYMP:0000514 A respiratory system and chest symptom that is characterized by a spasmodic inhalation with closure of the glottis accompanied by a peculiar sound. ICD9CM_2005:786.8 UMLS_CUI:C0019521 UMLS_ICD9CM_2005_AUI:A0421293 symptoms SYMP:0000515 hiccough SYMP:0000515 A respiratory system and chest symptom that is characterized by a spasmodic inhalation with closure of the glottis accompanied by a peculiar sound. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hiccough ICD9CM_2005:786.6 UMLS_CUI:C0159055 UMLS_ICD9CM_2005_AUI:A0284217 symptoms SYMP:0000516 lump in chest SYMP:0000516 SYMP:0000517 A respiratory system and chest symptom that is characterized by an expectoration of blood from some part of the respiratory tract. ICD9CM_2005:786.3 UMLS_CUI:C0019079 UMLS_ICD9CM_2005_AUI:A0067232 coughing up of blood expectoration of blood expectoration of blood-stained sputum haemoptysis symptoms SYMP:0000517 hemoptysis SYMP:0000517 A respiratory system and chest symptom that is characterized by an expectoration of blood from some part of the respiratory tract. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hemoptysis An abdominal pain that is characterized by being diffuse or widespread and affecting or involving all of the abdomen. ICD9CM_2005:789.07 UMLS_CUI:C0344304 UMLS_ICD9CM_2005_AUI:A0637131 symptoms SYMP:0000518 generalized abdominal pain SYMP:0000518 An abdominal pain that is characterized by being diffuse or widespread and affecting or involving all of the abdomen. url:https://medical-dictionary.thefreedictionary.com/generalization url:https://www.merriam-webster.com/dictionary/generalized ICD9CM_2005:787.7 UMLS_CUI:C0162287 UMLS_ICD9CM_2005_AUI:A0284238 symptoms SYMP:0000519 abnormal feces SYMP:0000519 ICD9CM_2005:787.4 UMLS_CUI:C0159059 UMLS_ICD9CM_2005_AUI:A0284228 symptoms SYMP:0000520 visible peristalsis SYMP:0000520 SYMP:0000521 ICD9CM_2005:785.6 UMLS_CUI:C0497156 UMLS_ICD9CM_2005_AUI:A0243823 swelling of lymph nodes swollen lymph glands symptoms SYMP:0000521 enlargement of lymph nodes SYMP:0000521 ICD9CM_2005:783.3 UMLS_CUI:C0699815 UMLS_ICD9CM_2005_AUI:A0284167 symptoms SYMP:0000522 feeding difficulties and mismanagement SYMP:0000522 SYMP:0000523 A nutrition, metabolism, and development symptom that is characterized by a loss of appetite especially when prolonged. ICD9CM_2005:783.0 UMLS_CUI:C0003123 UMLS_ICD9CM_2005_AUI:A0024378 symptoms SYMP:0000523 anorexia SYMP:0000523 A nutrition, metabolism, and development symptom that is characterized by a loss of appetite especially when prolonged. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=anorexia A nutrition, metabolism, and development symptom that is characterized by an excessive appetite or eating. ICD9CM_2005:783.6 UMLS_CUI:C0020505 UMLS_ICD9CM_2005_AUI:A0011381 symptoms SYMP:0000524 polyphagia SYMP:0000524 A nutrition, metabolism, and development symptom that is characterized by an excessive appetite or eating. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=polyphagia An alteration of consciousness that is characterized by a brief (transient) episode of losing normal awareness or behavior. ICD9CM_2005:780.02 UMLS_CUI:C0221539 UMLS_ICD9CM_2005_AUI:A0466980 symptoms SYMP:0000525 transient alteration of awareness SYMP:0000525 An alteration of consciousness that is characterized by a brief (transient) episode of losing normal awareness or behavior. url:https://www.inst-neuro.com/services/epilepsy/transient-alteration-of-awareness/ SYMP:0000526 An abdominal symptom consisting of an abnormal accumulation of serous fluid in the spaces between tissues and organs in the cavity of the abdomen. ICD9CM_2005:789.5 UMLS_CUI:C0003962 UMLS_ICD9CM_2005_AUI:A0026882 hydroperitoneum symptoms SYMP:0000526 ascites SYMP:0000526 An abdominal symptom consisting of an abnormal accumulation of serous fluid in the spaces between tissues and organs in the cavity of the abdomen. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ascites ICD9CM_2005:785.2 UMLS_CUI:C0375546 UMLS_ICD9CM_2005_AUI:A0813487 symptoms SYMP:0000527 undiagnosed cardiac murmur SYMP:0000527 ICD9CM_2005:785 UMLS_CUI:C0159049 UMLS_ICD9CM_2005_AUI:A0284192 symptoms SYMP:0000528 cardiovascular system symptom SYMP:0000528 SYMP:0000529 Tachycardia is a cardiovascular system symptom consisting of a relatively rapid heart action whether physiological (as after exercise) or pathological. ICD9CM_2005:785.0 UMLS_CUI:C0039231 UMLS_ICD9CM_2005_AUI:A0804597 symptoms SYMP:0000529 tachycardia SYMP:0000529 Tachycardia is a cardiovascular system symptom consisting of a relatively rapid heart action whether physiological (as after exercise) or pathological. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tachycardia SYMP:0000530 Palpitation is a cardiovascykar system symptom characterized by an abnormal awareness of the beating of the heart,whether it is too slow, too fast, irregular, or at its normal frequency when excited by violent exertion, strong emotion, or disease. ICD9CM_2005:785.1 UMLS_CUI:C0030252 UMLS_ICD9CM_2005_AUI:A0004066 abnormal heart beats symptoms SYMP:0000530 palpitation SYMP:0000530 Palpitation is a cardiovascykar system symptom characterized by an abnormal awareness of the beating of the heart,whether it is too slow, too fast, irregular, or at its normal frequency when excited by violent exertion, strong emotion, or disease. url:http://en.wikipedia.org/wiki/Palpitation url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=palpitation SYMP:0000531 ICD9CM_2005:789.2 UMLS_CUI:C0038002 UMLS_ICD9CM_2005_AUI:A0118748 esplenomegaly symptoms SYMP:0000531 splenomegaly SYMP:0000531 A urinary incontinence that is characterized by an involuntary leakage of urine from the bladder when a sudden strong need to urinate is felt, even when the bladder isn't full. ICD9CM_2005:788.31 UMLS_CUI:C0150045 UMLS_ICD9CM_2005_AUI:A0469078 symptoms SYMP:0000532 urge incontinence SYMP:0000532 A urinary incontinence that is characterized by an involuntary leakage of urine from the bladder when a sudden strong need to urinate is felt, even when the bladder isn't full. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=urge%20incontinence url:https://www.health.harvard.edu/bladder-and-bowel/types-of-urinary-incontinence A urinary incontinence that is characterized by urine remaining in the urethra after voiding the bladder that slowly leaks out after urination. ICD9CM_2005:788.35 UMLS_CUI:C0375552 UMLS_ICD9CM_2005_AUI:A0775329 symptoms SYMP:0000533 post-void dribbling SYMP:0000533 A urinary incontinence that is characterized by urine remaining in the urethra after voiding the bladder that slowly leaks out after urination. url:https://en.wikipedia.org/wiki/Post-void_dribbling A skin and integumentary tissue symptom that is characterized by the spontaneous escape of blood into the tissues from ruptured blood vessels marked by a livid black-and-blue or purple spot or area. ICD9CM_2005:782.7 UMLS_CUI:C0159039 UMLS_ICD9CM_2005_AUI:A0284153 symptoms SYMP:0000534 spontaneous ecchymoses SYMP:0000534 A skin and integumentary tissue symptom that is characterized by the spontaneous escape of blood into the tissues from ruptured blood vessels marked by a livid black-and-blue or purple spot or area. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ecchymoses ICD9CM_2005:782.8 UMLS_CUI:C0159040 UMLS_ICD9CM_2005_AUI:A0284158 symptoms SYMP:0000535 change in skin texture SYMP:0000535 ICD9CM_2005:782.0 UMLS_CUI:C0012766 UMLS_ICD9CM_2005_AUI:A0243776 symptoms SYMP:0000536 disturbance of skin sensation SYMP:0000536 SYMP:0000537 A skin and integumentary tissue symptom that is characterized by a bluish or purplish discoloration (as of skin) due to deficient oxygenation of the blood. ICD9CM_2005:782.5 UMLS_CUI:C0010520 UMLS_ICD9CM_2005_AUI:A0044296 symptoms SYMP:0000537 cyanosis SYMP:0000537 A skin and integumentary tissue symptom that is characterized by a bluish or purplish discoloration (as of skin) due to deficient oxygenation of the blood. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cyanosis SYMP:0000538 A skin and integumentary tissue symptom that is characterized by an abnormal excess accumulation of serous fluid in connective tissue or in a serous cavity. ICD9CM_2005:782.3 UMLS_CUI:C0013604 UMLS_ICD9CM_2005_AUI:A0052720 dropsy symptoms SYMP:0000538 edema SYMP:0000538 A skin and integumentary tissue symptom that is characterized by an abnormal excess accumulation of serous fluid in connective tissue or in a serous cavity. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=edema SYMP:0000539 A skin and integumentary tissue symptom that is characterized by a yellowish pigmentation of the skin, tissues, and certain body fluids is caused by the deposition of bile pigments that follows interference with normal production and discharge of bile (as in certain liver diseases) or excessive breakdown of red blood cells (as after internal hemorrhage or in various hemolytic states). ICD9CM_2005:782.4 UMLS_CUI:C0476232 UMLS_ICD9CM_2005_AUI:A0243785 icteric icterus symptoms SYMP:0000539 jaundice SYMP:0000539 A skin and integumentary tissue symptom that is characterized by a yellowish pigmentation of the skin, tissues, and certain body fluids is caused by the deposition of bile pigments that follows interference with normal production and discharge of bile (as in certain liver diseases) or excessive breakdown of red blood cells (as after internal hemorrhage or in various hemolytic states). url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=jaundice A respiratory system and chest symptom that is characterized by a feeling of discomfort when breathing in or out. The pain may be the result of infection, musculoskeletal injury, and heart problems. ICD9CM_2005:786.52 UMLS_CUI:C0423729 UMLS_ICD9CM_2005_AUI:A0243833 symptoms SYMP:0000540 painful respiration SYMP:0000540 A respiratory system and chest symptom that is characterized by a feeling of discomfort when breathing in or out. The pain may be the result of infection, musculoskeletal injury, and heart problems. url:https://www.healthline.com/health/painful-respiration#causes url:https://www.medicalnewstoday.com/articles/324718 ICD9CM_2005:789.35 UMLS_CUI:C0375561 UMLS_ICD9CM_2005_AUI:A0637126 symptoms SYMP:0000541 periumbilic abdominal swelling SYMP:0000541 SYMP:0000542 An abdominal pain that is characterized by occurring in the epigastrium, i.e. the upper part of the abdomen below the rib cage. ICD9CM_2005:789.06 UMLS_CUI:C0232493 UMLS_ICD9CM_2005_AUI:A0637130 symptoms SYMP:0000542 epigastric abdominal pain SYMP:0000542 An abdominal pain that is characterized by occurring in the epigastrium, i.e. the upper part of the abdomen below the rib cage. url:https://info.isabelhealthcare.com/blog/why-does-my-stomach-hurt-epigastric-pain-symptoms-and-causes url:https://www.healthline.com/health/epigastric-pain SYMP:0000543 A neurological and physiological symptom that is characterized by an unusual forgetfulness. One may not be able to remember new events, recall one or more memories of the past, or both. Memory loss may be for a short time and then resolve (transient), or it may not go away and get worse over time. ICD9CM_2005:780.93 UMLS_CUI:C0751295 UMLS_ICD9CM_2005_AUI:A2797424 symptoms SYMP:0000543 memory loss SYMP:0000543 A neurological and physiological symptom that is characterized by an unusual forgetfulness. One may not be able to remember new events, recall one or more memories of the past, or both. Memory loss may be for a short time and then resolve (transient), or it may not go away and get worse over time. url:https://medlineplus.gov/ency/article/003257.htm url:https://www.merckmanuals.com/professional/neurologic-disorders/symptoms-of-neurologic-disorders/memory-loss A paralysis that is characterized by a loss of some, or all, muscle control in a limb, and which lasts for only a short time (i.e. is temporary). ICD9CM_2005:781.4 UMLS_CUI:C0159034 UMLS_ICD9CM_2005_AUI:A0284133 symptoms SYMP:0000544 transient paralysis of limb SYMP:0000544 A paralysis that is characterized by a loss of some, or all, muscle control in a limb, and which lasts for only a short time (i.e. is temporary). url:https://dictionary.cambridge.org/us/dictionary/english/transient url:https://www.spinalcord.com/blog/what-causes-temporary-paralysis ICD9CM_2005:789.39 UMLS_CUI:C0375564 UMLS_ICD9CM_2005_AUI:A0637125 symptoms SYMP:0000545 multiple sites abdominal swelling SYMP:0000545 SYMP:0000546 ICD9CM_2005:789.03 UMLS_CUI:C0740603 symptoms SYMP:0000546 right lower quadrant abdominal pain SYMP:0000546 ICD9CM_2005:789.01 UMLS_CUI:C0235299 symptoms SYMP:0000547 right upper quadrant abdominal pain SYMP:0000547 ICD9CM_2005:789.33 UMLS_CUI:C0375559 symptoms SYMP:0000548 right lower quadrant abdominal swelling SYMP:0000548 ICD9CM_2005:789.37 UMLS_CUI:C0375563 UMLS_ICD9CM_2005_AUI:A0637122 symptoms SYMP:0000549 generalized abdominal swelling SYMP:0000549 ICD9CM_2005:781.5 UMLS_CUI:C0009080 UMLS_ICD9CM_2005_AUI:A0284139 symptoms SYMP:0000550 clubbing of fingers SYMP:0000550 ICD9CM_2005:781.1 UMLS_CUI:C0495689 UMLS_ICD9CM_2005_AUI:A0243765 taste alteration symptoms SYMP:0000551 disturbances of sensation of smell and taste SYMP:0000551 A nervous system symptom that is characterized by a state of meningeal irritation with symptoms suggesting meningitis that often occurs at the onset of acute febrile diseases especially in children. ICD9CM_2005:781.6 UMLS_CUI:C0025287 UMLS_ICD9CM_2005_AUI:A0434815 symptoms SYMP:0000552 meningismus SYMP:0000552 A nervous system symptom that is characterized by a state of meningeal irritation with symptoms suggesting meningitis that often occurs at the onset of acute febrile diseases especially in children. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=meningismus ICD9CM_2005:781.8 UMLS_CUI:C0840927 UMLS_ICD9CM_2005_AUI:A0752424 symptoms SYMP:0000553 neurologic neglect syndrome SYMP:0000553 ICD9CM_2005:789.44 UMLS_CUI:C0375568 UMLS_ICD9CM_2005_AUI:A0637143 symptoms SYMP:0000554 left lower quadrant abdominal rigidity SYMP:0000554 ICD9CM_2005:789.32 UMLS_CUI:C0375558 UMLS_ICD9CM_2005_AUI:A0637124 symptoms SYMP:0000555 left upper quadrant abdominal swelling SYMP:0000555 ICD9CM_2005:782.2 UMLS_CUI:C0476228 UMLS_ICD9CM_2005_AUI:A0243783 symptoms SYMP:0000556 localized superficial lump SYMP:0000556 A urinary system symptom that is characterized by an inability to empty the bladder completely during the process of voiding (urination). ICD9CM_2005:788.2 ICD9CM_2005:788.20 UMLS_CUI:C0080274 UMLS_ICD9CM_2005_AUI:A0284250 UMLS_ICD9CM_2005_AUI:A0784422 inability to urinate ischuria retention of urine symptoms SYMP:0000557 urinary retention SYMP:0000557 A urinary system symptom that is characterized by an inability to empty the bladder completely during the process of voiding (urination). url:https://en.wikipedia.org/wiki/Urinary_retention A urinary system symptom that is characterized by a bladder that is not empty. ICD9CM_2005:788.21 UMLS_CUI:C0344365 UMLS_ICD9CM_2005_AUI:A0722424 symptoms SYMP:0000558 incomplete bladder emptying SYMP:0000558 ICD9CM_2005:784.4 ICD9CM_2005:784.40 UMLS_CUI:C0042940 UMLS_ICD9CM_2005_AUI:A0284182 UMLS_ICD9CM_2005_AUI:A0818015 symptoms SYMP:0000559 voice disturbance SYMP:0000559 A nutrition, metabolism, and development symptom that is characterized by an excessive or abnormal thirst. ICD9CM_2005:783.5 UMLS_CUI:C0085602 UMLS_ICD9CM_2005_AUI:A0003974 symptoms SYMP:0000560 polydipsia SYMP:0000560 A nutrition, metabolism, and development symptom that is characterized by an excessive or abnormal thirst. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=polydipsia ICD9CM_2005:789.09 UMLS_CUI:C0375555 UMLS_ICD9CM_2005_AUI:A0637134 symptoms SYMP:0000561 multiple sites abdominal pain SYMP:0000561 ICD9CM_2005:789.31 UMLS_CUI:C0375557 symptoms SYMP:0000562 right upper quadrant abdominal swelling SYMP:0000562 A urinary system symptom that is characterized by the need to urinate many times during the day, at night, or both but in normal or less-than-normal volumes. Frequency may be accompanied by a sensation of an urgent need to void (urgency of urination). ICD9CM_2005:788.41 UMLS_CUI:C0042023 UMLS_ICD9CM_2005_AUI:A0004030 frequent urination symptoms nocturia SYMP:0000563 urinary frequency SYMP:0000563 A urinary system symptom that is characterized by the need to urinate many times during the day, at night, or both but in normal or less-than-normal volumes. Frequency may be accompanied by a sensation of an urgent need to void (urgency of urination). url:https://www.merckmanuals.com/professional/genitourinary-disorders/symptoms-of-genitourinary-disorders/urinary-frequency A urinary system symptom that is characterized by urination at night especially when excessive. ICD9CM_2005:788.43 UMLS_CUI:C0028734 UMLS_ICD9CM_2005_AUI:A0011475 nycturia symptoms SYMP:0000564 nocturia SYMP:0000564 A urinary system symptom that is characterized by urination at night especially when excessive. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=nocturia SYMP:0000565 A urinary system symptom that is characterized by the excessive secretion of urine. ICD9CM_2005:788.42 UMLS_CUI:C0032617 UMLS_ICD9CM_2005_AUI:A0103470 excessive secretion of urine symptoms SYMP:0000565 polyuria SYMP:0000565 A urinary system symptom that is characterized by the excessive secretion of urine. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=polyuria SYMP:0000566 ICD9CM_2005:780.5 UMLS_CUI:C0037317 UMLS_ICD9CM_2005_AUI:A0246756 symptoms SYMP:0000566 sleep disturbance SYMP:0000566 ICD9CM_2005:780 UMLS_CUI:C0159028 UMLS_ICD9CM_2005_AUI:A0284119 symptoms SYMP:0000567 general symptom SYMP:0000567 SYMP:0000568 A lack of expected normal physiological development in childhood that is characterized by an individual's height being in the 3rd percentile for the mean height of a given age, sex, and population group. ICD9CM_2005:783.43 UMLS_CUI:C0349588 symptoms SYMP:0000568 short stature SYMP:0000568 A lack of expected normal physiological development in childhood that is characterized by an individual's height being in the 3rd percentile for the mean height of a given age, sex, and population group. url:https://www.ncbi.nlm.nih.gov/books/NBK556031/ SYMP:0000569 A urinary system symptom that is characterized by the reduced excretion of urine. ICD9CM_2005:788.5 UMLS_CUI:C0028962 UMLS_ICD9CM_2005_AUI:A0243854 symptoms SYMP:0000569 oliguria SYMP:0000569 A urinary system symptom that is characterized by the reduced excretion of urine. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=oliguria SYMP:0000570 Diarrhea is a feces and droppng symptom involving the abnormally frequent intestinal evacuations with more or less fluid stools. ICD9CM_2005:787.91 UMLS_CUI:C0011991 UMLS_ICD9CM_2005_AUI:A0048148 bacterial gastroenteritis diarrhoea fecal incontinence incontinence of feces loose bowel loose bowels the runs symptoms SYMP:0000570 doid/symp duplicate - reviewed 10/2022, both DO & SYMP diarrhea SYMP:0000570 Diarrhea is a feces and droppng symptom involving the abnormally frequent intestinal evacuations with more or less fluid stools. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=diarrhea SYMP:0000571 Insomnia is a sleep disturbance characterized by prolonged and usually abnormal inability to obtain adequate sleep. ICD9CM_2005:780.52 UMLS_CUI:C0029645 UMLS_ICD9CM_2005_AUI:A0243733 agrypnia symptoms SYMP:0000571 insomnia SYMP:0000571 Insomnia is a sleep disturbance characterized by prolonged and usually abnormal inability to obtain adequate sleep. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=insomnia SYMP:0000572 A urinary stream symptom that is characterized by a split in the urine flow resulting in it streaming in two directions. ICD9CM_2005:788.61 UMLS_CUI:C0232855 UMLS_ICD9CM_2005_AUI:A0460440 symptoms SYMP:0000572 splitting of urinary stream SYMP:0000572 A urinary stream symptom that is characterized by a split in the urine flow resulting in it streaming in two directions. url:https://ugatl.com/services/prostatitis/splitting-urine-stream/ ICD9CM_2005:788.6 ICD9CM_2005:788.69 UMLS_CUI:C0159063 UMLS_ICD9CM_2005_AUI:A0284254 UMLS_ICD9CM_2005_AUI:A0284255 symptoms SYMP:0000573 urinary stream symptom SYMP:0000573 ICD9CM_2005:784.41 UMLS_CUI:C0003564 UMLS_ICD9CM_2005_AUI:A0025595 symptoms SYMP:0000574 aphonia SYMP:0000574 ICD9CM_2005:786.51 UMLS_CUI:C0232286 UMLS_ICD9CM_2005_AUI:A0284212 symptoms SYMP:0000575 precordial pain SYMP:0000575 SYMP:0000576 ICD9CM_2005:786.5 ICD9CM_2005:786.50 UMLS_CUI:C0008031 UMLS_ICD9CM_2005_AUI:A0243830 UMLS_ICD9CM_2005_AUI:A0400627 symptoms SYMP:0000576 chest pain SYMP:0000576 ICD9CM_2005:780.91 UMLS_CUI:C1135254 UMLS_ICD9CM_2005_AUI:A2358677 symptoms SYMP:0000577 fussy infant SYMP:0000577 ICD9CM_2005:788.34 UMLS_CUI:C0375551 UMLS_ICD9CM_2005_AUI:A0722462 symptoms SYMP:0000578 incontinence without sensory awareness SYMP:0000578 ICD9CM_2005:780.51 UMLS_CUI:C0159030 UMLS_ICD9CM_2005_AUI:A0284123 symptoms SYMP:0000579 insomnia with sleep apnea SYMP:0000579 ICD9CM_2005:780.56 UMLS_CUI:C0013373 UMLS_ICD9CM_2005_AUI:A0243741 symptoms SYMP:0000580 dysfunctions associated with sleep stages SYMP:0000580 SYMP:0000581 An apnea that is characterized by brief periods of recurrent cessation of breathing during sleep that is caused especially by obstruction of the airway or a disturbance in the brain's respiratory center and is associated especially with excessive daytime sleepiness. ICD9CM_2005:780.57 UMLS_CUI:C0375544 UMLS_ICD9CM_2005_AUI:A0760143 symptoms SYMP:0000581 doid/symp duplicate sleep apnea SYMP:0000581 An apnea that is characterized by brief periods of recurrent cessation of breathing during sleep that is caused especially by obstruction of the airway or a disturbance in the brain's respiratory center and is associated especially with excessive daytime sleepiness. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sleep%20apnea SYMP:0000582 Hypersomnia is a sleep disturbance characterized by sleeping for excessive periods at intervals with intervening periods of normal duration of sleeping and waking. ICD9CM_2005:780.54 UMLS_CUI:C0029637 UMLS_ICD9CM_2005_AUI:A0243739 symptoms SYMP:0000582 hypersomnia SYMP:0000582 Hypersomnia is a sleep disturbance characterized by sleeping for excessive periods at intervals with intervening periods of normal duration of sleeping and waking. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hypersomnia ICD9CM_2005:780.53 UMLS_CUI:C0020530 UMLS_ICD9CM_2005_AUI:A0243735 symptoms SYMP:0000583 hypersomnia with sleep apnea SYMP:0000583 ICD9CM_2005:780.55 UMLS_CUI:C0159031 UMLS_ICD9CM_2005_AUI:A0284127 symptoms SYMP:0000584 disruptions of 24-hour sleep-wake cycle SYMP:0000584 ICD9CM_2005:780.58 UMLS_CUI:C1455873 UMLS_ICD9CM_2005_AUI:A6995224 symptoms SYMP:0000585 sleep related movement disorder SYMP:0000585 A urinary incontinence that is characterized by a bladder that does not empty completely, resulting in a bladder that is too full, which leads to overflow and unexpected leaking. ICD9CM_2005:788.38 UMLS_CUI:C0312413 UMLS_ICD9CM_2005_AUI:A6994689 symptoms SYMP:0000586 overflow incontinence SYMP:0000586 A urinary incontinence that is characterized by a bladder that does not empty completely, resulting in a bladder that is too full, which leads to overflow and unexpected leaking. url:https://www.health.harvard.edu/bladder-and-bowel/types-of-urinary-incontinence url:https://www.healthline.com/health/overactive-bladder/overflow-incontinence url:https://www.webmd.com/urinary-incontinence-oab/overflow-incontinence A respiratory system and chest symptom that is characterized by a sound of breathing that is not similar to that of the sound of moving air and may include: rhonchi (a low-pitched breath sound), crackles (a high-pitched breath sound), wheezing (a high-pitched whistling sound caused by narrowing of the bronchial tubes), and stridor (a harsh, vibratory sound caused by narrowing of the upper airway). ICD9CM_2005:786.7 UMLS_CUI:C0159056 UMLS_ICD9CM_2005_AUI:A0284219 symptoms SYMP:0000587 abnormal chest sound SYMP:0000587 A respiratory system and chest symptom that is characterized by a sound of breathing that is not similar to that of the sound of moving air and may include: rhonchi (a low-pitched breath sound), crackles (a high-pitched breath sound), wheezing (a high-pitched whistling sound caused by narrowing of the bronchial tubes), and stridor (a harsh, vibratory sound caused by narrowing of the upper airway). url:https://www.healthline.com/health/breath-sounds#types A urinary system symptom that is characterized by an injury of the urethra in its bulbous or membranous portion, which leads to a collection of urine in other cavities, such as the perineal space, the scrotum, the penis and the connective tissue of the anterior abdominal wall. ICD9CM_2005:788.8 UMLS_CUI:C0152245 UMLS_ICD9CM_2005_AUI:A0284259 symptoms SYMP:0000588 extravasation of urine SYMP:0000588 A urinary system symptom that is characterized by an injury of the urethra in its bulbous or membranous portion, which leads to a collection of urine in other cavities, such as the perineal space, the scrotum, the penis and the connective tissue of the anterior abdominal wall. url:https://en.wikipedia.org/wiki/Extravasation_of_urine url:https://jamanetwork.com/journals/jama/article-abstract/466994 A urinary stream symptom that is characterized by a slow or weak stream of urine. ICD9CM_2005:788.62 UMLS_CUI:C0232854 UMLS_ICD9CM_2005_AUI:A0459374 symptoms SYMP:0000589 slowing of urinary stream SYMP:0000589 A urinary stream symptom that is characterized by a slow or weak stream of urine. url:https://www.besturologistnyc.com/what-is-slow-urine-flow SYMP:0000590 A urinary system symptom that is characterized by a strong and immediate need to urinate due to an increase in pressure in the bladder, resulting in difficulty to hold in the urine. This can occur regardless of whether the bladder is full. ICD9CM_2005:788.63 UMLS_CUI:C0085606 UMLS_ICD9CM_2005_AUI:A2797703 urgency of urination symptoms SYMP:0000590 urinary urgency SYMP:0000590 A urinary system symptom that is characterized by a strong and immediate need to urinate due to an increase in pressure in the bladder, resulting in difficulty to hold in the urine. This can occur regardless of whether the bladder is full. url:https://www.medicalnewstoday.com/articles/325336#symptoms ICD9CM_2005:789.62 UMLS_CUI:C0238566 UMLS_ICD9CM_2005_AUI:A0637156 symptoms SYMP:0000591 left upper quadrant abdominal tenderness SYMP:0000591 ICD9CM_2005:780.92 UMLS_CUI:C0497134 UMLS_ICD9CM_2005_AUI:A2358671 symptoms SYMP:0000592 excessive crying of infant SYMP:0000592 SYMP:0000593 ICD9CM_2005:785.4 UMLS_CUI:C0017086 UMLS_ICD9CM_2005_AUI:A0061978 symptoms SYMP:0000593 gangrene SYMP:0000593 A nervous system symptom that is characterized by an inability to control bodily movement and may be a symptom of cerebrovascular diseases, dyskinesia, tremor, chorea, dystonia and myoclonus. ICD9CM_2005:781.0 UMLS_CUI:C0392702 UMLS_ICD9CM_2005_AUI:A0243762 symptoms SYMP:0000594 abnormal involuntary movement SYMP:0000594 A nervous system symptom that is characterized by an inability to control bodily movement and may be a symptom of cerebrovascular diseases, dyskinesia, tremor, chorea, dystonia and myoclonus. url:https://patient.info/doctor/abnormal-involuntary-movements url:https://stanfordmedicine25.stanford.edu/the25/involuntary-movements-and-tremors.html A convulsion that is characterized by occurring in young children between six months and five years of age and which is triggered by fever. ICD9CM_2005:780.31 UMLS_CUI:C0009952 UMLS_ICD9CM_2005_AUI:A0701466 febrile seizure symptoms SYMP:0000595 febrile convulsion SYMP:0000595 A convulsion that is characterized by occurring in young children between six months and five years of age and which is triggered by fever. url:https://www.ninds.nih.gov/febrile-seizures-fact-sheet url:https://www.webmd.com/a-to-z-guides/swollen-glands SYMP:0000596 A nervous system symptom that is characterized by an abnormal violent and involuntary contraction or series of contractions of the muscles. ICD9CM_2005:780.3 UMLS_CUI:C0009951 UMLS_ICD9CM_2005_AUI:A0042665 symptoms SYMP:0000596 convulsion SYMP:0000596 A nervous system symptom that is characterized by an abnormal violent and involuntary contraction or series of contractions of the muscles. url:https://www.merriam-webster.com/dictionary/convulsion ICD9CM_2005:784 UMLS_CUI:C0476247 UMLS_ICD9CM_2005_AUI:A0284173 symptoms SYMP:0000597 head and neck symptom SYMP:0000597 A respiratory system and chest symptom that is characterized by a respiration that is not normal and may include, but is not limited to: apnea, eupnea, orthopnea, dyspnea hyperpnea, hyperventilation, hypoventilation, tachypnea, Kussmaul respiration, Cheyne-Stokes respiration, sighing respiration, Biot respiration, apneustic breathing, central neurogenic hyperventilation, and central neurogenic hypoventilation. ICD9CM_2005:786.0 UMLS_CUI:C0159053 UMLS_ICD9CM_2005_AUI:A0284202 symptoms SYMP:0000598 respiratory abnormality SYMP:0000598 A respiratory system and chest symptom that is characterized by a respiration that is not normal and may include, but is not limited to: apnea, eupnea, orthopnea, dyspnea hyperpnea, hyperventilation, hypoventilation, tachypnea, Kussmaul respiration, Cheyne-Stokes respiration, sighing respiration, Biot respiration, apneustic breathing, central neurogenic hyperventilation, and central neurogenic hypoventilation. url:https://www.ncbi.nlm.nih.gov/books/NBK470309/ A respiratory abnormality that is characterized by a specific form of periodic breathing (waxing and waning amplitude of flow or tidal volume) characterized by a crescendo-decrescendo pattern of respiration between central apneas or central hypopneas. ICD9CM_2005:786.04 UMLS_CUI:C0008039 UMLS_ICD9CM_2005_AUI:A0400651 symptoms SYMP:0000599 cheyne-stokes respiration SYMP:0000599 A respiratory abnormality that is characterized by a specific form of periodic breathing (waxing and waning amplitude of flow or tidal volume) characterized by a crescendo-decrescendo pattern of respiration between central apneas or central hypopneas. url:https://www.ncbi.nlm.nih.gov/books/NBK448165/ A respiratory abnormality that is characterized by transient cessation of respiration whether normal (as in hibernating animals) or abnormal (as that caused by certain drugs). ICD9CM_2005:786.03 UMLS_CUI:C0003578 UMLS_ICD9CM_2005_AUI:A0025648 symptoms SYMP:0000600 apnea SYMP:0000600 A respiratory abnormality that is characterized by transient cessation of respiration whether normal (as in hibernating animals) or abnormal (as that caused by certain drugs). url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=apnea SYMP:0000601 A respiratory abnormality that is characterized by excessive ventilation characterized by excessive rate and depth of respiration leading to abnormal loss of carbon dioxide from the blood. ICD9CM_2005:786.01 UMLS_CUI:C0020578 UMLS_ICD9CM_2005_AUI:A0071094 symptoms SYMP:0000601 hyperventilation SYMP:0000601 A respiratory abnormality that is characterized by excessive ventilation characterized by excessive rate and depth of respiration leading to abnormal loss of carbon dioxide from the blood. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hyperventilation A respiratory abnormality that is characterized by a difficulty in breathing that occurs when lying down and is relieved upon changing to an upright position (as in congestive heart failure). ICD9CM_2005:786.02 UMLS_CUI:C0085619 UMLS_ICD9CM_2005_AUI:A0004140 symptoms SYMP:0000602 orthopnea SYMP:0000602 A respiratory abnormality that is characterized by a difficulty in breathing that occurs when lying down and is relieved upon changing to an upright position (as in congestive heart failure). url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=orthopnea SYMP:0000603 A respiratory abnormality that is characterized by an increased rate of respiration and shallow breathing. SYMP:0000683 ICD9CM_2005:786.06 UMLS_CUI:C0231835 UMLS_ICD9CM_2005_AUI:A0465027 rapid breathing symptoms SYMP:0000603 tachypnea SYMP:0000603 A respiratory abnormality that is characterized by an increased rate of respiration and shallow breathing. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tachypnea url:https://www.healthline.com/health/rapid-shallow-breathing SYMP:0000604 An abnormal chest sound that is characterized by breathing with difficulty usually with a whistling sound. ICD9CM_2005:786.07 UMLS_CUI:C0043144 UMLS_ICD9CM_2005_AUI:A0133941 symptoms SYMP:0000604 wheezing SYMP:0000604 An abnormal chest sound that is characterized by breathing with difficulty usually with a whistling sound. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=wheezing SYMP:0000605 An alteration of consciousness that is characterized by a deep state of prolonged unconsciousness in which a person cannot be awakened, fails to respond normally to painful stimuli, light, or sound, lacks a normal wake-sleep cycle and does not initiate voluntary actions. ICD9CM_2005:780.01 UMLS_CUI:C0009421 UMLS_ICD9CM_2005_AUI:A0041160 symptoms SYMP:0000605 coma SYMP:0000605 An alteration of consciousness that is characterized by a deep state of prolonged unconsciousness in which a person cannot be awakened, fails to respond normally to painful stimuli, light, or sound, lacks a normal wake-sleep cycle and does not initiate voluntary actions. url:https://en.wikipedia.org/wiki/Coma A urinary incontinence that is characterized by involuntary urination at night in children five years of age or older. ICD9CM_2005:788.36 UMLS_CUI:C0270327 UMLS_ICD9CM_2005_AUI:A0753297 bed wetting nighttime incontinence symptoms SYMP:0000606 nocturnal enuresis SYMP:0000606 A urinary incontinence that is characterized by involuntary urination at night in children five years of age or older. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3348193/ SYMP:0000607 Hallucination is a general symptom where there is a perception of something (as a visual image or a sound) with no external cause usually arising from a disorder of the nervous system (as in delirium tremens or in functional psychosis without known neurological disease) or in response to drugs (as LSD). ICD9CM_2005:780.1 UMLS_CUI:C0018524 UMLS_ICD9CM_2005_AUI:A0065642 symptoms SYMP:0000607 hallucination SYMP:0000607 Hallucination is a general symptom where there is a perception of something (as a visual image or a sound) with no external cause usually arising from a disorder of the nervous system (as in delirium tremens or in functional psychosis without known neurological disease) or in response to drugs (as LSD). url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hallucinations An alteration of consciousness that is characterized by a loss of consciousness resulting from insufficient blood flow to the brain and limb weakness progressing to collapse. ICD9CM_2005:780.2 UMLS_CUI:C0039070 UMLS_ICD9CM_2005_AUI:A0243721 symptoms SYMP:0000608 syncope and collapse SYMP:0000608 An alteration of consciousness that is characterized by a loss of consciousness resulting from insufficient blood flow to the brain and limb weakness progressing to collapse. url:https://en.wikipedia.org/wiki/Syncope_(medicine) A neurological and physiological symptom that is characterized by excessive sweating, i.e. the production of more sweat than is required to regulate body temperature. Generalized hyperhidrosis is caused by non-thermoregulatory stimuli and affects the entire body. ICD9CM_2005:780.8 UMLS_CUI:C0476476 UMLS_ICD9CM_2005_AUI:A6994739 secondary hyperhidrosis symptoms SYMP:0000609 generalized hyperhidrosis SYMP:0000609 A neurological and physiological symptom that is characterized by excessive sweating, i.e. the production of more sweat than is required to regulate body temperature. Generalized hyperhidrosis is caused by non-thermoregulatory stimuli and affects the entire body. url:https://sydneynorthneurology.com.au/generalised-hyperhidrosis/ SYMP:0000610 A balance symptom that is characterized by a sensation of unsteadiness accompanied by a feeling of movement within the head. ICD9CM_2005:780.4 UMLS_CUI:C0476206 UMLS_ICD9CM_2005_AUI:A0243727 dizzy symptoms SYMP:0000610 dizziness SYMP:0000610 A balance symptom that is characterized by a sensation of unsteadiness accompanied by a feeling of movement within the head. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dizziness ICD9CM_2005:789.05 UMLS_CUI:C0740594 UMLS_ICD9CM_2005_AUI:A0637135 symptoms SYMP:0000611 periumbilic abdominal pain SYMP:0000611 ICD9CM_2005:789.45 UMLS_CUI:C0375569 UMLS_ICD9CM_2005_AUI:A0637146 symptoms SYMP:0000612 periumbilic abdominal rigidity SYMP:0000612 SYMP:0000613 A neurological and physiological symptom that is characterized by a rise of body temperature above the normal, whether as a natural response (as to infection) or artificially induced for therapeutic reasons. ICD9CM_2005:780.6 UMLS_CUI:C0015967 UMLS_ICD9CM_2005_AUI:A0058972 pyrexia symptoms SYMP:0000613 fever SYMP:0000613 A neurological and physiological symptom that is characterized by a rise of body temperature above the normal, whether as a natural response (as to infection) or artificially induced for therapeutic reasons. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=fever SYMP:0000614 A respiratory system and chest symptom that is characterized by an explosive expulsion of air from the lungs acting as a protective mechanism to clear the air passages or as a symptom of pulmonary disturbance. ICD9CM_2005:786.2 UMLS_CUI:C0010200 UMLS_ICD9CM_2005_AUI:A0043303 symptoms SYMP:0000614 cough SYMP:0000614 A respiratory system and chest symptom that is characterized by an explosive expulsion of air from the lungs acting as a protective mechanism to clear the air passages or as a symptom of pulmonary disturbance. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cough SYMP:0000616 ICD9CM_2005:781.91 UMLS_CUI:C0424641 UMLS_ICD9CM_2005_AUI:A1892812 symptoms SYMP:0000616 loss of height SYMP:0000616 ICD9CM_2005:781.93 UMLS_CUI:C0028856 UMLS_ICD9CM_2005_AUI:A2358774 twisted neck wry neck symptoms SYMP:0000617 torticollis SYMP:0000617 ICD9CM_2005:781.92 UMLS_CUI:C0231471 UMLS_ICD9CM_2005_AUI:A0387502 symptoms SYMP:0000618 abnormal posture SYMP:0000618 ICD9CM_2005:781.7 UMLS_CUI:C0039621 UMLS_ICD9CM_2005_AUI:A0124526 symptoms SYMP:0000619 tetany SYMP:0000619 An abdominal pain that is characterized by occurring in the left lower quadrant of the abdomen that is often related to the digestive tract, but can also be related to conditions of the body wall, skin, blood vessels, urinary tract, or reproductive organs. ICD9CM_2005:789.04 UMLS_CUI:C0238551 UMLS_ICD9CM_2005_AUI:A0637132 symptoms SYMP:0000620 left lower quadrant abdominal pain SYMP:0000620 An abdominal pain that is characterized by occurring in the left lower quadrant of the abdomen that is often related to the digestive tract, but can also be related to conditions of the body wall, skin, blood vessels, urinary tract, or reproductive organs. url:https://www.healthgrades.com/right-care/symptoms-and-conditions/left-lower-quadrant-pain An aphasia that is characterized by a loss of ability to read. ICD9CM_2005:784.6 ICD9CM_2005:784.69 UMLS_CUI:C0478145 UMLS_ICD9CM_2005_AUI:A0243803 UMLS_ICD9CM_2005_AUI:A0243804 symptoms SYMP:0000621 doid/symp duplicate alexia SYMP:0000621 An aphasia that is characterized by a loss of ability to read. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=alexia symptoms SYMP:0000622 acute mesenteric lymphadenitis SYMP:0000622 A renal failure that is characterized by a severe and sudden onset of renal failure. symptoms SYMP:0000623 acute renal failure SYMP:0000623 An alteration of consciousness that is characterized by a disturbance in sentience (the ability to experience feelings and sensations) or awareness of one's internal and external existence, i.e. inhibited or absent self-awareness. symptoms SYMP:0000625 conscious disturbance SYMP:0000625 An alteration of consciousness that is characterized by a disturbance in sentience (the ability to experience feelings and sensations) or awareness of one's internal and external existence, i.e. inhibited or absent self-awareness. url:https://en.wikipedia.org/wiki/Consciousness url:https://en.wikipedia.org/wiki/Disorders_of_consciousness disturbance of vision symptoms SYMP:0000627 disturbed vision SYMP:0000627 symptoms SYMP:0000628 vision distortion SYMP:0000628 A rash characterized by a widespread skin eruption usually occurring in children that is a symptom of a more general disease. symptoms SYMP:0000629 exanthema SYMP:0000629 A rash characterized by a widespread skin eruption usually occurring in children that is a symptom of a more general disease. url:http://en.wikipedia.org/wiki/Exanthema symptoms SYMP:0000630 frontal headache SYMP:0000630 symptoms SYMP:0000631 doid/symp duplicate hemolytic anemia SYMP:0000631 A joint pain that is characterized by a pain situated, or occurring, in or around the hip. symptoms SYMP:0000632 hip pain SYMP:0000632 A joint pain that is characterized by a pain situated, or occurring, in or around the hip. url:https://medlineplus.gov/ency/article/003179.htm symptoms SYMP:0000633 inflammatory low back pain SYMP:0000633 SYMP:0000634 symptoms SYMP:0000634 leukocytosis SYMP:0000634 low back pain symptoms SYMP:0000635 low backache SYMP:0000635 SYMP:0000636 A rash characterized by papule(s), which are a raised area of the skin and macule(s), which are a flat red area of the skin. symptoms SYMP:0000636 maculopapular rash SYMP:0000636 A rash characterized by papule(s), which are a raised area of the skin and macule(s), which are a flat red area of the skin. url:https://www.webmd.com/skin-problems-and-treatments/what-is-maculopapular-rash symptoms SYMP:0000637 opisthotonus SYMP:0000637 SYMP:0000638 A rash characterized by papule(s), which are a raised area of the skin. symptoms SYMP:0000638 papular rash SYMP:0000638 A rash characterized by papule(s), which are a raised area of the skin. url:https://www.webmd.com/skin-problems-and-treatments/what-is-maculopapular-rash SYMP:0000639 rectal bleeding symptoms SYMP:0000639 rectorrhagia SYMP:0000639 A rash characterized by an inflammatory reaction of the skin on the ankles. redness of ankle symptoms SYMP:0000640 ankle rash SYMP:0000640 A rash characterized by an inflammatory reaction of the skin on the ankles. url:https://www.healthgrades.com/right-care/skin-hair-and-nails/ankle-rash symptoms SYMP:0000641 renal involvement SYMP:0000641 A respiratory system and chest symptom that is characterized by a difficulty to breathe on one's own and develops when the lungs cannot get enough oxygen into the blood. respiratory dysfunction symptoms SYMP:0000643 doid/symp duplicate - reviewed 10/2022, both DO & SYMP respiratory failure SYMP:0000643 A respiratory system and chest symptom that is characterized by a difficulty to breathe on one's own and develops when the lungs cannot get enough oxygen into the blood. url:https://www.nhlbi.nih.gov/health/respiratory-failure symptoms SYMP:0000644 ruffled feather SYMP:0000644 Synovitis is a joint inflammation characterized by an inflammation of a synovial membrane usually with pain and swelling of the joint. symptoms SYMP:0000646 doid/symp duplicate synovitis SYMP:0000646 Synovitis is a joint inflammation characterized by an inflammation of a synovial membrane usually with pain and swelling of the joint. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=synovitis A skin ulcer that is characterized by a a small dark-centered ulcer that appears at the site of a tick bite and is the primary lesion of boutonneuse fever. symptoms SYMP:0000647 tache noire SYMP:0000647 A skin ulcer that is characterized by a a small dark-centered ulcer that appears at the site of a tick bite and is the primary lesion of boutonneuse fever. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tache%20noire symptoms SYMP:0000648 tenesmus SYMP:0000648 symptoms SYMP:0000649 terminal ileitis SYMP:0000649 symptoms SYMP:0000650 thick white exudate on tongue SYMP:0000650 symptoms SYMP:0000651 discharge SYMP:0000651 symptoms SYMP:0000652 wound discharge SYMP:0000652 symptoms SYMP:0000653 yellow dropping SYMP:0000653 SYMP:0000654 A behavioral symptom that is characterized by a quick excitability to annoyance, impatience, or anger. Inconsolability symptoms SYMP:0000654 irritability SYMP:0000654 A behavioral symptom that is characterized by a quick excitability to annoyance, impatience, or anger. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=irritability SYMP:0000655 symptoms SYMP:0000655 mouth bleeding SYMP:0000655 symptoms SYMP:0000656 pale mucous membrane SYMP:0000656 symptoms SYMP:0000657 ischemic necrosis of jejunum SYMP:0000657 symptoms SYMP:0000658 extraocular muscles paralysis SYMP:0000658 A paralysis that is charachterized by a slight or partial paralysis. partial paralysis symptoms SYMP:0000659 pareses SYMP:0000659 A paralysis that is charachterized by a slight or partial paralysis. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pareses A rash characterized by a red or purple hued small spots of blood appear on the skin caused by conditions that result in blood leaking into the skin and other body surfaces that does not fade when pressed upon. symptoms SYMP:0000660 purpuric rash SYMP:0000660 A rash characterized by a red or purple hued small spots of blood appear on the skin caused by conditions that result in blood leaking into the skin and other body surfaces that does not fade when pressed upon. url:https://en.wikipedia.org/wiki/Purpura url:https://patient.info/allergies-blood-immune/blood-clotting-tests/purpuric-rashes symptoms SYMP:0000661 recumbency SYMP:0000661 Shakes is a general symptom characterized by a condition of trembling. trembling symptoms SYMP:0000662 shakes SYMP:0000662 Shakes is a general symptom characterized by a condition of trembling. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=shakes symptoms SYMP:0000663 uncoordinated gait SYMP:0000663 symptoms SYMP:0000664 yellow exudate from nose SYMP:0000664 symptoms SYMP:0000665 yellow exudate from eyes SYMP:0000665 SYMP:0000666 A behavioral symptom that is characterized by behavior that is atypical or statistically uncommon within a particular culture, or that is maladaptive, or detrimental to an individual, or those around that individual. symptoms SYMP:0000666 abnormal behavior SYMP:0000666 A behavioral symptom that is characterized by behavior that is atypical or statistically uncommon within a particular culture, or that is maladaptive, or detrimental to an individual, or those around that individual. url:https://www.betterhelp.com/advice/behavior/what-is-abnormal-behavior/ symptoms SYMP:0000669 abnormal hemistanding SYMP:0000669 symptoms SYMP:0000670 abnormal hemiwalking SYMP:0000670 symptoms SYMP:0000671 sudden onset of fever SYMP:0000671 SYMP:0000672 symptoms SYMP:0000672 abscess SYMP:0000672 Bradykinesia is a hypokinesia characterized by an extreme slowness in the execution of movements and reflexes. symptoms SYMP:0000673 bradykinesia SYMP:0000673 Bradykinesia is a hypokinesia characterized by an extreme slowness in the execution of movements and reflexes. url:http://en.wikipedia.org/wiki/Bradykinesia url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bradykinesia symptoms SYMP:0000674 acute cranial nerve dysfunction SYMP:0000674 Acute diarrhea is a diarrhea with either or both a rapid onset or a short course. symptoms SYMP:0000675 doid/symp duplicate acute diarrhea SYMP:0000675 Acute diarrhea is a diarrhea with either or both a rapid onset or a short course. url:http://en.wikipedia.org/wiki/Acute_%28medicine%29 url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=diarrhea Acute enteritis is a enteritis with either or both a rapid onset and a short course which is usually due to bacteria or virus. symptoms SYMP:0000676 acute enteritis SYMP:0000676 Acute enteritis is a enteritis with either or both a rapid onset and a short course which is usually due to bacteria or virus. url:http://en.wikipedia.org/wiki/Acute_%28medicine%29 url:http://en.wikipedia.org/wiki/Enteritis symptoms SYMP:0000677 acute gastroenteritis SYMP:0000677 A nervous system symptom that is characterized by a severe and sudden onset of disturbance in the normal operation of one's cognition, emotional regulation, or behaviour. symptoms SYMP:0000678 acute mental dysfunction SYMP:0000678 A nervous system symptom that is characterized by a severe and sudden onset of disturbance in the normal operation of one's cognition, emotional regulation, or behaviour. url:https://www.who.int/news-room/fact-sheets/detail/mental-disorders SYMP:0000679 A dyspnea that is characterized by a severe and sudden onset. symptoms SYMP:0000679 acute dyspnea SYMP:0000679 A dyspnea that is characterized by a severe and sudden onset. url:https://medlineplus.gov/ency/imagepages/18126.htm A weight loss that is characterized by a severe and sudden onset. symptoms SYMP:0000680 acute weight loss SYMP:0000680 A weight loss that is characterized by a severe and sudden onset. url:https://medlineplus.gov/ency/imagepages/18126.htm A behavioral symptom that is characterized by behavior aimed at harming a person, or animal, or damaging physical property. symptoms SYMP:0000681 aggressive behavior SYMP:0000681 A behavioral symptom that is characterized by behavior aimed at harming a person, or animal, or damaging physical property. url:https://www.healthline.com/health/aggressive-behavior SYMP:0000682 A nervous system symptom that is characterized by a host of presentations that include changes in cognition, mood, behavior, and/or level of arousal. symptoms SYMP:0000682 altered mental status SYMP:0000682 A nervous system symptom that is characterized by a host of presentations that include changes in cognition, mood, behavior, and/or level of arousal. url:https://www.hopkinsguides.com/hopkins/view/Johns_Hopkins_Psychiatry_Guide/787028/all/Altered_Mental_Status symptoms SYMP:0000684 bifrontal headache SYMP:0000684 symptoms SYMP:0000685 brain cyst SYMP:0000685 SYMP:0000686 A cough that is characterized by an explosive expulsion of air from the lungs acting as a protective mechanism to clear the air passages or as a symptom of pulmonary disturbance marked by long duration, by frequent recurrence over a long time, and often by slowly progressing seriousness. symptoms SYMP:0000686 chronic cough SYMP:0000686 A cough that is characterized by an explosive expulsion of air from the lungs acting as a protective mechanism to clear the air passages or as a symptom of pulmonary disturbance marked by long duration, by frequent recurrence over a long time, and often by slowly progressing seriousness. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=chronic An abnormal involuntary movement that is characterized by an inability to walk in a straight line. symptoms SYMP:0000688 circling movement SYMP:0000688 An abnormal involuntary movement that is characterized by an inability to walk in a straight line. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3434216/ SYMP:0000689 symptoms SYMP:0000689 cramp SYMP:0000689 symptoms SYMP:0000690 cranial nerve palsies SYMP:0000690 SYMP:0000691 symptoms SYMP:0000691 cytopenia SYMP:0000691 SYMP:0000692 symptoms SYMP:0000692 low blood pressure SYMP:0000692 symptoms SYMP:0000693 decreased facial sensation SYMP:0000693 symptoms SYMP:0000694 decreased jaw tone SYMP:0000694 A nutrition, metabolism, and development symptom that is characterized by a decrease in the production of milk in breastfeeding mothers. symptoms SYMP:0000695 decreased milk production SYMP:0000695 A nutrition, metabolism, and development symptom that is characterized by a decrease in the production of milk in breastfeeding mothers. url:https://www.chop.edu/pages/low-milk-supply url:https://www.thewomens.org.au/health-information/breastfeeding/breastfeeding-problems/low-milk-supply symptoms SYMP:0000696 decreased motor response SYMP:0000696 symptoms SYMP:0000697 decreased pharyngeal tone SYMP:0000697 A feeding difficulties and mismanagement that is characterized by a decrease in muscle coordination to form a suck response so that the child can ingest milk. symptoms SYMP:0000698 decreased sucking SYMP:0000698 A feeding difficulties and mismanagement that is characterized by a decrease in muscle coordination to form a suck response so that the child can ingest milk. url:https://adoption.umn.edu/sucking-problems symptoms SYMP:0000699 deltoid muscle weakness SYMP:0000699 symptoms SYMP:0000700 diminished spontaneous movement SYMP:0000700 symptoms SYMP:0000701 nasal discharge SYMP:0000701 symptoms SYMP:0000702 distended loops of intestines on rectal SYMP:0000702 symptoms SYMP:0000703 droopy ears SYMP:0000703 SYMP:0000704 symptoms SYMP:0000704 dysphonia SYMP:0000704 An aphasia that is characterized by damage to, or a developmental issues in, the anterior regions of the brain, including (but not limited to) the left inferior frontal region known as Broca's area. Sufferers of this form of aphasia exhibit the common problem of agrammatism. For them, speech is difficult to initiate, non-fluent, labored, and halting. Broca's aphasia agrammatic aphasia symptoms SYMP:0000705 expressive aphasia SYMP:0000705 An aphasia that is characterized by damage to, or a developmental issues in, the anterior regions of the brain, including (but not limited to) the left inferior frontal region known as Broca's area. Sufferers of this form of aphasia exhibit the common problem of agrammatism. For them, speech is difficult to initiate, non-fluent, labored, and halting. url:http://en.wikipedia.org/wiki/Expressive_aphasia SYMP:0000706 symptoms SYMP:0000706 facial weakness SYMP:0000706 symptoms SYMP:0000707 flaccid muscle tone SYMP:0000707 SYMP:0000709 symptoms SYMP:0000709 granulomatous inflammation SYMP:0000709 symptoms SYMP:0000710 head pressing SYMP:0000710 SYMP:0000711 symptoms SYMP:0000711 hind limb paralysis SYMP:0000711 A reproductive system symptom that is characterized the biological inability of a man or a woman to contribute to conception; or, the state of a woman who is unable to carry a pregnancy to full term. symptoms SYMP:0000712 doid/symp duplicate infertility SYMP:0000712 A reproductive system symptom that is characterized the biological inability of a man or a woman to contribute to conception; or, the state of a woman who is unable to carry a pregnancy to full term. url:http://en.wikipedia.org/wiki/Infertility symptoms SYMP:0000713 inability to lie flat SYMP:0000713 symptoms SYMP:0000714 intraretinal hemorrhage SYMP:0000714 SYMP:0000715 A skin and integumentary tissue symptom that is characterized by the peeling off of skin in the form of scales. symptoms SYMP:0000715 skin desquamation SYMP:0000715 A skin and integumentary tissue symptom that is characterized by the peeling off of skin in the form of scales. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=desquamation SYMP:0000716 symptoms SYMP:0000716 swelling symptom SYMP:0000716 SYMP:0000717 symptoms SYMP:0000717 leg swelling SYMP:0000717 A neurological and physiological symptom that is characterized by a state in which an individual lacks normal awareness of self and the surrounding environment and one's ability to remain awake, aware, and oriented is impaired. symptoms SYMP:0000718 loss of consciousness SYMP:0000718 A neurological and physiological symptom that is characterized by a state in which an individual lacks normal awareness of self and the surrounding environment and one's ability to remain awake, aware, and oriented is impaired. url:https://drwilderman.com/neurological-disorders/loss-of-consciousness/ url:https://www.healthline.com/health/consciousness-decreased SYMP:0000719 A neurological and physiological symptom that is characterized by a diminished or reduced ability to remember things such as dates and names, and increased forgetfulness. symptoms SYMP:0000719 memory impairment SYMP:0000719 A neurological and physiological symptom that is characterized by a diminished or reduced ability to remember things such as dates and names, and increased forgetfulness. url:https://www.merriam-webster.com/dictionary/impairment symptoms SYMP:0000720 microangiopathic hemolytic anemia SYMP:0000720 symptoms SYMP:0000721 moderate anemia SYMP:0000721 symptoms SYMP:0000722 moderate conjuctival injection SYMP:0000722 symptoms SYMP:0000723 multiple abscesses SYMP:0000723 symptoms SYMP:0000724 multiple organ failure SYMP:0000724 symptoms SYMP:0000725 necrosis of jejunum SYMP:0000725 symptoms SYMP:0000726 painful reginal lymphadenopathy SYMP:0000726 symptoms SYMP:0000727 palate weakness SYMP:0000727 symptoms SYMP:0000728 partial hind limb paralysis SYMP:0000728 A respiratory system and chest symptom that is characterized by a region of normally compressible lung tissue that has filled with liquid instead of air. symptoms SYMP:0000729 pulmonary consolidation SYMP:0000729 A respiratory system and chest symptom that is characterized by a region of normally compressible lung tissue that has filled with liquid instead of air. url:https://en.wikipedia.org/wiki/Pulmonary_consolidation A respiratory abnormality that is characterized by an increased breathing rate, with more than 20 breaths per minute in an adult, while in children, the number of breaths per minute can be a higher resting rate than seen in adults. symptoms SYMP:0000730 rapid respiration SYMP:0000730 A respiratory abnormality that is characterized by an increased breathing rate, with more than 20 breaths per minute in an adult, while in children, the number of breaths per minute can be a higher resting rate than seen in adults. url:https://www.healthline.com/health/rapid-shallow-breathing#What-is-tachypnea? SYMP:0000731 A urinary system symptom that is characterized by a loss of excretory function in one or both kidneys, leading to retention of nitrogenous waste products from the blood. symptoms SYMP:0000731 renal failure SYMP:0000731 A urinary system symptom that is characterized by a loss of excretory function in one or both kidneys, leading to retention of nitrogenous waste products from the blood. url:https://www.ncbi.nlm.nih.gov/books/NBK519012/ symptoms SYMP:0000732 sudden ataxis SYMP:0000732 symptoms SYMP:0000733 sternocleidomastoid weakness SYMP:0000733 SYMP:0000736 symptoms SYMP:0000736 lymph gland swelling SYMP:0000736 A respiratory system and chest symptom that is characterized by an ulceration (dying and sloughing) of the bronchial or bronchiolar epithelium, exposing the underlying basement membrane. symptoms SYMP:0000737 respiratory tract mucosa ulcer SYMP:0000737 A respiratory system and chest symptom that is characterized by an ulceration (dying and sloughing) of the bronchial or bronchiolar epithelium, exposing the underlying basement membrane. url:https://medical-dictionary.thefreedictionary.com/respiratory+mucosa url:https://ntp.niehs.nih.gov/nnl/respiratory/lung/ulcer/index.htm symptoms SYMP:0000738 yellowish green diarrhea SYMP:0000738 SYMP:0000739 A respiratory system and chest symptom that is characterized by bleeding (hemorrhage) in either or both the bronchi and the lungs. symptoms SYMP:0000739 bronchopulmonary bleeding SYMP:0000739 A respiratory system and chest symptom that is characterized by bleeding (hemorrhage) in either or both the bronchi and the lungs. url:https://www.merriam-webster.com/medical/bronchopulmonary symptoms SYMP:0000740 genitourinary hemorrhage SYMP:0000740 SYMP:0000741 symptoms SYMP:0000741 nasal bleeding SYMP:0000741 SYMP:0000742 Gum bleeding is a mouth symptom characterized by a copious discharge of blood from the blood vessels of the mucosal tissue that lies over the alveolar bone. gingival hemorrhage symptoms SYMP:0000742 gum bleeding SYMP:0000742 Gum bleeding is a mouth symptom characterized by a copious discharge of blood from the blood vessels of the mucosal tissue that lies over the alveolar bone. url:http://en.wikipedia.org/wiki/Gingival url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hemorrhage symptoms SYMP:0000743 blotchy red rash SYMP:0000743 SYMP:0000744 symptoms SYMP:0000744 cervical lymphadenopathy SYMP:0000744 symptoms SYMP:0000745 change in body sensation SYMP:0000745 A skin and integumentary tissue symptom that is characterized by an eruption on a mucous surface. symptoms SYMP:0000746 enanthem SYMP:0000746 A skin and integumentary tissue symptom that is characterized by an eruption on a mucous surface. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=enanthem symptoms SYMP:0000747 extreme prostration SYMP:0000747 An adema that is characterized by an abnormal excess accumulation of serous fluid in connective tissue of the face. facial swelling symptoms SYMP:0000748 facial edema SYMP:0000748 An adema that is characterized by an abnormal excess accumulation of serous fluid in connective tissue of the face. url:https://angletoner.com/facial-swelling/ symptoms SYMP:0000749 hemodynamic instability SYMP:0000749 symptoms SYMP:0000750 hemorrhage into mucous membrane SYMP:0000750 SYMP:0000751 symptoms SYMP:0000751 hemorrhage into skin SYMP:0000751 symptoms SYMP:0000752 herpetic lesion on upper lip SYMP:0000752 symptoms SYMP:0000753 intense anxiety SYMP:0000753 SYMP:0000754 intense chest pain symptoms SYMP:0000754 severe chest pain SYMP:0000754 symptoms SYMP:0000755 intense toxemia SYMP:0000755 SYMP:0000756 A reproductive system symptom that is characterized an abnormally profuse menstrual flow. symptoms SYMP:0000756 menorrhagia SYMP:0000756 A reproductive system symptom that is characterized an abnormally profuse menstrual flow. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=menorrhagia symptoms SYMP:0000757 mild conjunctivitis SYMP:0000757 symptoms SYMP:0000758 neurological alteration SYMP:0000758 A pain that is characterized by a pain situated, or occurring, in the parotid gland, which is a salivary gland located in front of the ears. (Additional salivary glands include the submandibular and sublingual glands.) Pain is attributed to swelling of the gland. salivary gland pain symptoms SYMP:0000759 parotid pain SYMP:0000759 A pain that is characterized by a pain situated, or occurring, in the parotid gland, which is a salivary gland located in front of the ears. (Additional salivary glands include the submandibular and sublingual glands.) Pain is attributed to swelling of the gland. url:https://en.wikipedia.org/wiki/Parotid_gland url:https://en.wikipedia.org/wiki/Salivary_gland url:https://myhealth.alberta.ca/Health/aftercareinformation/pages/conditions.aspx?hwid=zp4169 SYMP:0000760 A skin and integumentary tissue symptom that is characterized by a minute reddish or purplish spot containing blood that appears in skin or mucous membrane as a result of localized hemorrhage. petechial rash symptoms SYMP:0000760 petechiae SYMP:0000760 A skin and integumentary tissue symptom that is characterized by a minute reddish or purplish spot containing blood that appears in skin or mucous membrane as a result of localized hemorrhage. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=petechiae symptoms SYMP:0000761 extracellular fluid alteration SYMP:0000761 symptoms SYMP:0000762 excess lymphocytes in cerebrospinal fluid SYMP:0000762 symptoms SYMP:0000763 renal alteration SYMP:0000763 A pain that is characterized by a pain situated, or occurring, behind the eyeball. symptoms SYMP:0000764 retrobulbar pain SYMP:0000764 A pain that is characterized by a pain situated, or occurring, behind the eyeball. url:https://www.merriam-webster.com/medical/retrobulbar SYMP:0000765 symptoms SYMP:0000765 sensory disturbance SYMP:0000765 symptoms SYMP:0000766 slow pulse SYMP:0000766 symptoms SYMP:0000767 subconjunctival bleeding SYMP:0000767 A pain that is characterized by a pain in, or about, a testis (testicle) or testes. Testicular pain can be caused by nerve damage, sexually transmitted infections, gangrene, swelling, hernia, kidney stones, inflammation, enlarged veins, fluid in the testicle, or a severe condition known as testicular torsion. symptoms SYMP:0000768 testicular pain SYMP:0000768 A pain that is characterized by a pain in, or about, a testis (testicle) or testes. Testicular pain can be caused by nerve damage, sexually transmitted infections, gangrene, swelling, hernia, kidney stones, inflammation, enlarged veins, fluid in the testicle, or a severe condition known as testicular torsion. url:https://www.healthline.com/health/testicle-pain SYMP:0000769 symptoms SYMP:0000769 vascular alteration SYMP:0000769 symptoms SYMP:0000770 pelvic symptom SYMP:0000770 ICD9CM_2005:789.3 symptoms SYMP:0000771 pelvic swelling SYMP:0000771 ICD9CM_2005:789.3 symptoms SYMP:0000772 pelvic mass SYMP:0000772 ICD9CM_2005:789.3 symptoms SYMP:0000773 pelvic lump SYMP:0000773 symptoms SYMP:0000774 generalized pelvic lump SYMP:0000774 symptoms SYMP:0000775 right lower quadrant pelvic lump SYMP:0000775 symptoms SYMP:0000776 epigastric pelvic lump SYMP:0000776 symptoms SYMP:0000777 left lower quadrant pelvic lump SYMP:0000777 symptoms SYMP:0000778 left upper quadrant pelvic lump SYMP:0000778 symptoms SYMP:0000779 right upper quadrant pelvic lump SYMP:0000779 symptoms SYMP:0000780 multiple sites pelvic lump SYMP:0000780 symptoms SYMP:0000781 periumbilic pelvic lump SYMP:0000781 symptoms SYMP:0000782 right upper quadrant pelvic mass SYMP:0000782 symptoms SYMP:0000783 left lower quadrant pelvic mass SYMP:0000783 symptoms SYMP:0000784 epigastric pelvic mass SYMP:0000784 symptoms SYMP:0000785 left upper quadrant pelvic mass SYMP:0000785 symptoms SYMP:0000786 generalized pelvic mass SYMP:0000786 symptoms SYMP:0000787 periumbilic pelvic mass SYMP:0000787 symptoms SYMP:0000788 multiple sites pelvic mass SYMP:0000788 symptoms SYMP:0000789 right lower quadrant pelvic mass SYMP:0000789 symptoms SYMP:0000790 multiple sites pelvic swelling SYMP:0000790 symptoms SYMP:0000791 generalized pelvic swelling SYMP:0000791 symptoms SYMP:0000792 epigastric pelvic swelling SYMP:0000792 symptoms SYMP:0000793 left lower quadrant pelvic swelling SYMP:0000793 symptoms SYMP:0000794 left upper quadrant pelvic swelling SYMP:0000794 symptoms SYMP:0000795 periumbilic pelvic swelling SYMP:0000795 symptoms SYMP:0000796 right lower quadrant pelvic swelling SYMP:0000796 symptoms SYMP:0000797 right upper quadrant pelvic swelling SYMP:0000797 SYMP:0000798 ICD9CM_2005:789.3 UMLS_CUI:C0476310 symptoms SYMP:0000798 abdominal mass SYMP:0000798 symptoms SYMP:0000799 abdominal lump SYMP:0000799 symptoms SYMP:0000800 left upper quadrant abdominal mass SYMP:0000800 symptoms SYMP:0000801 left lower quadrant abdominal mass SYMP:0000801 symptoms SYMP:0000802 epigastric abdominal mass SYMP:0000802 symptoms SYMP:0000803 multiple sites abdominal mass SYMP:0000803 symptoms SYMP:0000804 generalized abdominal mass SYMP:0000804 symptoms SYMP:0000805 periumbilic abdominal mass SYMP:0000805 symptoms SYMP:0000806 right lower quadrant abdominal mass SYMP:0000806 symptoms SYMP:0000807 right upper quadrant abdominal mass SYMP:0000807 symptoms SYMP:0000808 multiple sites abdominal lump SYMP:0000808 symptoms SYMP:0000809 periumbilic abdominal lump SYMP:0000809 symptoms SYMP:0000810 epigastric abdominal lump SYMP:0000810 symptoms SYMP:0000811 left upper quadrant abdominal lump SYMP:0000811 symptoms SYMP:0000812 right lower quadrant abdominal lump SYMP:0000812 symptoms SYMP:0000813 right upper quadrant abdominal lump SYMP:0000813 symptoms SYMP:0000814 generalized abdominal lump SYMP:0000814 symptoms SYMP:0000815 left lower quadrant abdominal lump SYMP:0000815 ICD9CM_2005:307.47 symptoms SYMP:0000816 dysfunctions associated with arousal from sleep SYMP:0000816 symptoms SYMP:0000817 inability to concentrate SYMP:0000817 ICD9CM_2005:782.2 symptoms SYMP:0000818 localized superficial mass SYMP:0000818 ICD9CM_2005:782.2 symptoms SYMP:0000819 localized superficial swelling SYMP:0000819 ICD9CM_2005:786.6 symptoms SYMP:0000820 mass in chest SYMP:0000820 symptoms SYMP:0000821 swelling in chest SYMP:0000821 Chronic enteritis is a enteritis with slow progress, long duration, or frequent recurrence which can be due to Crohn's disease, giardiasis, tuberculosis, coeliac disease, or rarely due to Whipple's disease. symptoms SYMP:0000822 chronic enteritis SYMP:0000822 Chronic enteritis is a enteritis with slow progress, long duration, or frequent recurrence which can be due to Crohn's disease, giardiasis, tuberculosis, coeliac disease, or rarely due to Whipple's disease. url:http://en.wikipedia.org/wiki/Enteritis url:http://www.rootsweb.ancestry.com/~vapage2/deathcauses.htm SYMP:0000823 Sinus bradycardia is a bradycardia where the sinus rhythm is abnormally slow bradycardia consisting of a sinus rhythm at a rate lower than 60 beats per minute. symptoms SYMP:0000823 sinus bradycardia SYMP:0000823 Sinus bradycardia is a bradycardia where the sinus rhythm is abnormally slow bradycardia consisting of a sinus rhythm at a rate lower than 60 beats per minute. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sinus%20bradycardia Junctional tachycardia is a tachycardia associated with the generation of impulses in a locus in the region of the atrioventricular node. symptoms SYMP:0000824 junctional tachycardia SYMP:0000824 Junctional tachycardia is a tachycardia associated with the generation of impulses in a locus in the region of the atrioventricular node. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=junctional%20tachycardia Paroxysmal tachycardia is a tachycardia that begins and ends abruptly and that is initiated by a premature supraventricular beat originating in the atrium or in the atrioventricular node or bundle of His or by a premature ventricular beat. symptoms SYMP:0000825 paroxysmal tachycardia SYMP:0000825 Paroxysmal tachycardia is a tachycardia that begins and ends abruptly and that is initiated by a premature supraventricular beat originating in the atrium or in the atrioventricular node or bundle of His or by a premature ventricular beat. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=paroxysmal%20tachycardia Sinus tachycardia is a tachychardia characterized by an abnormally rapid sinus rhythm specifically a sinus rhythm at a rate greater than 100 beats per minute. symptoms SYMP:0000826 sinus tachycardia SYMP:0000826 Sinus tachycardia is a tachychardia characterized by an abnormally rapid sinus rhythm specifically a sinus rhythm at a rate greater than 100 beats per minute. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sinus%20tachycardia SYMP:0000827 A tachycardia that is associated with the generation of improper electrical impulses within the ventricles, characterized by an electrocardiogram showing a rate of greater than 120 BPM and three or more wide QRS complexes in a row. V-tach VT symptoms SYMP:0000827 ventricular tachycardia SYMP:0000827 A tachycardia that is associated with the generation of improper electrical impulses within the ventricles, characterized by an electrocardiogram showing a rate of greater than 120 BPM and three or more wide QRS complexes in a row. url:https://en.wikipedia.org/wiki/Ventricular_tachycardia Sore eyes is a eye symptom characterized by an inflammation of the thin covering of the eyeball and the inner eyelid brought about by a viral infection which may be highly contagious. symptoms SYMP:0000828 sore eyes SYMP:0000828 Sore eyes is a eye symptom characterized by an inflammation of the thin covering of the eyeball and the inner eyelid brought about by a viral infection which may be highly contagious. url:http://www.doh.gov.ph/faqs/sore_eyes SYMP:0000829 A pain that is characterized by an unpleasant sensation localized in the neck that usually indicates the body is threatened or damaged. The sensation may be sharp or dull, short-lived or chronic, intermittent or continual. symptoms SYMP:0000829 neck pain SYMP:0000829 A pain that is characterized by an unpleasant sensation localized in the neck that usually indicates the body is threatened or damaged. The sensation may be sharp or dull, short-lived or chronic, intermittent or continual. url:http://www.nationalpainfoundation.org/MyTreatment/articles/Cancer_PainDefinitions.asp A pain that is characterized by a painful sensation that is perceived to originate in the amputated portion of the extremety. Patients may have localized pain that originates in the stump. symptoms SYMP:0000830 phantom pain SYMP:0000830 A pain that is characterized by a painful sensation that is perceived to originate in the amputated portion of the extremety. Patients may have localized pain that originates in the stump. url:http://www.nationalpainfoundation.org/MyTreatment/articles/Cancer_PainDefinitions.asp A pain that is characterized by originating from other than the peripheral and central nervous systems, and which is caused by activation of nociceptive fibers. symptoms SYMP:0000831 nociceptive pain SYMP:0000831 A pain that is characterized by originating from other than the peripheral and central nervous systems, and which is caused by activation of nociceptive fibers. url:http://www.nationalpainfoundation.org/MyTreatment/articles/Cancer_PainDefinitions.asp A pain that is characterized by being experienced by cancer patients and which is caused by radiotherapy or chemotherapy damage to nerves, when cancer invades or compresses nerves, or when, during cancer treatment. This type of pain is typically described as burning, electrical, or strange feeling. symptoms SYMP:0000832 neuropathic pain SYMP:0000832 A pain that is characterized by being experienced by cancer patients and which is caused by radiotherapy or chemotherapy damage to nerves, when cancer invades or compresses nerves, or when, during cancer treatment. This type of pain is typically described as burning, electrical, or strange feeling. url:http://www.nationalpainfoundation.org/MyTreatment/articles/Cancer_PainDefinitions.asp A pain that is characterized by originating from organ tissues of the thorax, abdomen, or pelvis. It characterizes as deep, vague, and difficult to locate pain, that radiates away from the affected organ. symptoms SYMP:0000833 visceral pain SYMP:0000833 A pain that is characterized by originating from organ tissues of the thorax, abdomen, or pelvis. It characterizes as deep, vague, and difficult to locate pain, that radiates away from the affected organ. url:http://www.nationalpainfoundation.org/MyTreatment/articles/Cancer_PainDefinitions.asp A sensation perception that is characterized by a reduced sense of touch or sensation, or a partial loss of sensitivity to sensory stimuli. numbness symptoms SYMP:0000834 hypoesthesia SYMP:0000834 A sensation perception that is characterized by a reduced sense of touch or sensation, or a partial loss of sensitivity to sensory stimuli. url:https://en.wikipedia.org/wiki/Hypoesthesia A sensation perception that is characterized by a diminished sensitivity to painful stimulation. symptoms SYMP:0000835 hypoalgesia SYMP:0000835 A sensation perception that is characterized by a diminished sensitivity to painful stimulation. url:http://www.nationalpainfoundation.org/MyTreatment/articles/Cancer_PainDefinitions.asp A sensation perception that is characterized by an increased response to a painful stimulus. symptoms SYMP:0000836 hyperalgesia SYMP:0000836 A sensation perception that is characterized by an increased response to a painful stimulus. url:http://www.nationalpainfoundation.org/MyTreatment/articles/Cancer_PainDefinitions.asp A pain that is characterized by ranging from mild to severe and which continues beyond the expected healing phase. symptoms SYMP:0000837 chronic pain SYMP:0000837 A pain that is characterized by ranging from mild to severe and which continues beyond the expected healing phase. url:http://www.nationalpainfoundation.org/MyTreatment/articles/Cancer_PainDefinitions.asp A pain that is characterized by occurring with movement and is not controlled by a scheduled pain medication regimen, such that the pain breaks through the current regimen. This is usually referred to in the context of a short and long acting opioid, the short acting opioid being used to treat the breakthrough pain. symptoms SYMP:0000838 breakthrough pain SYMP:0000838 A pain that is characterized by occurring with movement and is not controlled by a scheduled pain medication regimen, such that the pain breaks through the current regimen. This is usually referred to in the context of a short and long acting opioid, the short acting opioid being used to treat the breakthrough pain. url:http://www.nationalpainfoundation.org/MyTreatment/articles/Cancer_PainDefinitions.asp SYMP:0000839 A pain that is characterized by being severe but lasting a relatively short time. sudden pain symptoms SYMP:0000839 acute pain SYMP:0000839 A pain that is characterized by being severe but lasting a relatively short time. url:http://www.nationalpainfoundation.org/MyTreatment/articles/Cancer_PainDefinitions.asp A pain that is characterized by a painful sensation with a normal, non-painful stimulation. symptoms SYMP:0000840 allodynia SYMP:0000840 A pain that is characterized by a painful sensation with a normal, non-painful stimulation. url:http://www.nationalpainfoundation.org/MyTreatment/articles/Cancer_PainDefinitions.asp Reactive hyperemia is a hyperemia occurring due to the dilation of arteriolar smooth muscle to increase blood flow in response to a profound increase in blood flow to an organ after being occluded. There will be a shortage of oxygen and a build-up of metabolic waste. symptoms SYMP:0000841 reactive hyperemia SYMP:0000841 Reactive hyperemia is a hyperemia occurring due to the dilation of arteriolar smooth muscle to increase blood flow in response to a profound increase in blood flow to an organ after being occluded. There will be a shortage of oxygen and a build-up of metabolic waste. url:http://en.wikipedia.org/wiki/Hyperemia Active hyperemia is a hyperemia occurring due to the dilation of arteriolar smooth muscle to increase blood flow in response to an increase in metabolism. symptoms SYMP:0000842 active hyperemia SYMP:0000842 Active hyperemia is a hyperemia occurring due to the dilation of arteriolar smooth muscle to increase blood flow in response to an increase in metabolism. url:http://en.wikipedia.org/wiki/Hyperemia Functional hyperemia is a hyperemia occurring due to an increase in blood flow to a tissue due to the presence of metabolites and a change in general conditions. symptoms SYMP:0000843 functional hyperemia SYMP:0000843 Functional hyperemia is a hyperemia occurring due to an increase in blood flow to a tissue due to the presence of metabolites and a change in general conditions. url:http://en.wikipedia.org/wiki/Hyperemia Hyperemia of the face is a head symptom consisting of an excess of blood in the tissues of the face as from an increased flow of blood due to vasodilation. symptoms SYMP:0000844 face hyperemia SYMP:0000844 Hyperemia of the face is a head symptom consisting of an excess of blood in the tissues of the face as from an increased flow of blood due to vasodilation. url:http://en.wikipedia.org/wiki/Hyperemia Hyperemia of the neck is a neck symptom consisting of an excess of blood in the tissues of the neck as from an increased flow of blood due to vasodilation. symptoms SYMP:0000845 hyperemia of the neck SYMP:0000845 Hyperemia of the neck is a neck symptom consisting of an excess of blood in the tissues of the neck as from an increased flow of blood due to vasodilation. url:http://en.wikipedia.org/wiki/Hyperemia Hyperemia of the chest is a cardiovascular system symptom consisting of an excess of blood in the tissues of the chest as from an increased flow of blood due to vasodilation. symptoms SYMP:0000846 chest hyperemia SYMP:0000846 Hyperemia of the chest is a cardiovascular system symptom consisting of an excess of blood in the tissues of the chest as from an increased flow of blood due to vasodilation. url:http://en.wikipedia.org/wiki/Hyperemia SYMP:0000847 A paralysis that is characterized by a tonic spasm of the affected muscles and with increased tendon reflexes. symptoms SYMP:0000847 spastic paralysis SYMP:0000847 A paralysis that is characterized by a tonic spasm of the affected muscles and with increased tendon reflexes. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=spastic%20paralysis A paralysis that is characterized by a complete or partial loss of function the voluntary muscles. symptoms SYMP:0000848 motor paralysis SYMP:0000848 A paralysis that is characterized by a complete or partial loss of function the voluntary muscles. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=motor%20paralysis A reproductive system symptom that is characterized by the birth of a dead fetus; in which a fetus that has died in the uterus, or during labor, or delivery, exits a woman's body. symptoms SYMP:0000849 stillbirth SYMP:0000849 A reproductive system symptom that is characterized by the birth of a dead fetus; in which a fetus that has died in the uterus, or during labor, or delivery, exits a woman's body. url:http://en.wikipedia.org/wiki/Still_birth url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=stillbirth Congested sclera is a hyperemia characterized as the congestion of the vessels of the outer layer of the eye containing collagen and elastic fibers. symptoms SYMP:0000850 congested sclera SYMP:0000850 Congested sclera is a hyperemia characterized as the congestion of the vessels of the outer layer of the eye containing collagen and elastic fibers. url:http://en.wikipedia.org/wiki/Sclera A hematuria that is characterized by the production of a visible redness in the urine. symptoms SYMP:0000851 gross hematuria SYMP:0000851 A hematuria that is characterized by the production of a visible redness in the urine. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=gross%20hematuria A urinary system symptom that is characterized by the absence of, or by defective, urine excretion. ICD9CM_2005:788.5 UMLS_CUI:C0028962 UMLS_ICD9CM_2005_AUI:A0243854 symptoms SYMP:0000852 doid/symp duplicate anuria SYMP:0000852 A urinary system symptom that is characterized by the absence of, or by defective, urine excretion. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=anuria A urinary incontinence that is characterized by an involuntary leakage of urine from the bladder accompanying physical activity (as in laughing, coughing, sneezing, or physical exercise) which places increased pressure on the abdomen. symptoms SYMP:0000853 stress incontinence SYMP:0000853 A urinary incontinence that is characterized by an involuntary leakage of urine from the bladder accompanying physical activity (as in laughing, coughing, sneezing, or physical exercise) which places increased pressure on the abdomen. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=stress%20incontinence url:https://www.health.harvard.edu/bladder-and-bowel/types-of-urinary-incontinence A menorrhagia that is characterized by an abnormally profuse or prolonged menstrual flow. symptoms SYMP:0000854 hypermenorrhea SYMP:0000854 A menorrhagia that is characterized by an abnormally profuse or prolonged menstrual flow. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hypermenorrhea A menorrhagia that is characterized by an irregular uterine bleeding, especially between menstrual periods. symptoms SYMP:0000855 metrorrhagia SYMP:0000855 A menorrhagia that is characterized by an irregular uterine bleeding, especially between menstrual periods. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=metrorrhagia A vertigo that is characterized by a sensation that one's body is revolving in space. symptoms SYMP:0000856 subjective vertigo SYMP:0000856 A vertigo that is characterized by a sensation that one's body is revolving in space. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=subjective+vertigo A vertigo that is characterized by a sensation that the external world is revolving. symptoms SYMP:0000857 objective vertigo SYMP:0000857 A vertigo that is characterized by a sensation that the external world is revolving. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=objective+vertigo Hypokinesia is a musculoskeletal system symptom characterized by the slow or diminished movement of body musculature. It may be associated with basal ganglia diseases; mental disorders; prolonged inactivity due to illness; experimental protocols used to evaluate the physiologic effects of immobility; and other conditions. symptoms SYMP:0000858 hypokinesia SYMP:0000858 Hypokinesia is a musculoskeletal system symptom characterized by the slow or diminished movement of body musculature. It may be associated with basal ganglia diseases; mental disorders; prolonged inactivity due to illness; experimental protocols used to evaluate the physiologic effects of immobility; and other conditions. url:http://en.wikipedia.org/wiki/Hypokinesia Rigidity hypokinesia a type of hypokinesia described as the increase in muscle tension when moved by an outside force. symptoms SYMP:0000859 rigidity hypokinesia SYMP:0000859 Rigidity hypokinesia a type of hypokinesia described as the increase in muscle tension when moved by an outside force. url:http://en.wikipedia.org/wiki/Hypokinesia Postural instability hypokinesia is a hypokinesia described as a loss of ability to maintain an upright posture. symptoms SYMP:0000860 postural instability hypokinesia SYMP:0000860 Postural instability hypokinesia is a hypokinesia described as a loss of ability to maintain an upright posture. url:http://en.wikipedia.org/wiki/Hypokinesia Freezing hypokinesia is a hypkinesia where a person can not move their muscles how they want them to. symptoms SYMP:0000861 freezing hypokinesia SYMP:0000861 Freezing hypokinesia is a hypkinesia where a person can not move their muscles how they want them to. url:http://en.wikipedia.org/wiki/Hypokinesia A pain that is characterized by pain which is subjectively localized in one region although it is due to irritation in another region. symptoms SYMP:0000862 referred pain SYMP:0000862 A pain that is characterized by pain which is subjectively localized in one region although it is due to irritation in another region. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=referred%20pain Facial tremor is a head symptom characterized by a trembling or shaking of the muscles of the face usually from physical weakness, emotional stress, or disease, may be emphasized by the firm closure of the eyes, elevation of the eyebrows, or drawing down and outward of the corners of the mouth. symptoms SYMP:0000863 facial tremor SYMP:0000863 Facial tremor is a head symptom characterized by a trembling or shaking of the muscles of the face usually from physical weakness, emotional stress, or disease, may be emphasized by the firm closure of the eyes, elevation of the eyebrows, or drawing down and outward of the corners of the mouth. url:http://books.google.com/books/pdf/Medical_Diagnosis_for_the_Student_and_Pr.pdf?id=NWOYzn2-_pcC&output=pdf&sig=ACfU3U01YhXqEIhGHVTFAnUinc9-Q8INRQ url:http://www.merriam-webster.com/dictionary/tremors symptoms SYMP:0000864 lesions in oropharynx SYMP:0000864 SYMP:0000865 symptoms SYMP:0000865 lesions in mouth SYMP:0000865 Cervical edema is a neck symptom characterized by an abnormal excess accumulation of serous fluid in the soft tissue of the cervical area. symptoms SYMP:0000866 cervical edema SYMP:0000866 Cervical edema is a neck symptom characterized by an abnormal excess accumulation of serous fluid in the soft tissue of the cervical area. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=edema SYMP:0000867 A digestive system symptom characterized by bleeding from one or more of the areas of the digestive or gastrointestinal (GI) tract that includes the espophagus, stomach, small intestine, large intestine or colon, rectum and anus. symptoms SYMP:0000867 gastrointestinal bleeding SYMP:0000867 A digestive system symptom characterized by bleeding from one or more of the areas of the digestive or gastrointestinal (GI) tract that includes the espophagus, stomach, small intestine, large intestine or colon, rectum and anus. url:http://www.nlm.nih.gov/medlineplus/gastrointestinalbleeding.html SYMP:0000868 A respiratory abnormality that is characterized by a shortness of breath, a hard or uncomfortable intake of air, or the feeling that you're not getting enough air. symptoms SYMP:0000868 breathing problems SYMP:0000868 A respiratory abnormality that is characterized by a shortness of breath, a hard or uncomfortable intake of air, or the feeling that you're not getting enough air. url:http://www.nlm.nih.gov/medlineplus/breathingproblems.html A congestion that is characterized by a blockage of the nasal passages, usually due to the membranes lining the nose becoming swollen from inflamed blood vessels. symptoms SYMP:0000869 nasal congestion SYMP:0000869 A congestion that is characterized by a blockage of the nasal passages, usually due to the membranes lining the nose becoming swollen from inflamed blood vessels. url:http://en.wikipedia.org/wiki/Nasal_congestion Icteric eyes is a eye symptom characterized by yellowed eyes due to bile or bilirubin accumulation. symptoms SYMP:0000870 icteric eyes SYMP:0000870 Icteric eyes is a eye symptom characterized by yellowed eyes due to bile or bilirubin accumulation. url:http://en.wikipedia.org/wiki/Jaundice url:http://www3.niaid.nih.gov/labs/aboutlabs/cmb/InfectiousDiseasePathogenesisSection/mouseNecropsy/necropsyTerms.htm A skin and integumentary tissue symptom that is characterized by yellowed mucous membranes due to bile or bilirubin accumulation. symptoms SYMP:0000871 icteric mucous membrane SYMP:0000871 A skin and integumentary tissue symptom that is characterized by yellowed mucous membranes due to bile or bilirubin accumulation. url:http://en.wikipedia.org/wiki/Jaundice A skin and integumentary tissue symptom that is characterized by yellowed skin due to bile or bilirubin accumulation. symptoms SYMP:0000872 icteric skin SYMP:0000872 A skin and integumentary tissue symptom that is characterized by yellowed skin due to bile or bilirubin accumulation. url:http://en.wikipedia.org/wiki/Jaundice Otitis is a ear symptom characterized as a general term for inflammation or infection of the ear, in both humans and other animals. symptoms SYMP:0000873 otitis SYMP:0000873 Otitis is a ear symptom characterized as a general term for inflammation or infection of the ear, in both humans and other animals. url:http://en.wikipedia.org/wiki/Otitis A skin and integumentary tissue symptom that is characterized by a mass of usually clotted blood that forms in a tissue, organ, or body space as a result of a broken blood vessel generally the result of hemorrhage, or more specifically, internal bleeding. symptoms SYMP:0000874 hematoma SYMP:0000874 A skin and integumentary tissue symptom that is characterized by a mass of usually clotted blood that forms in a tissue, organ, or body space as a result of a broken blood vessel generally the result of hemorrhage, or more specifically, internal bleeding. url:http://en.wikipedia.org/wiki/Hematoma url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hematomas Lameness is a musculoskeletal system symptom where a person is physically disabled as the result of having a body part and especially a limb so disabled as to impair freedom of movement. symptoms SYMP:0000875 lameness SYMP:0000875 Lameness is a musculoskeletal system symptom where a person is physically disabled as the result of having a body part and especially a limb so disabled as to impair freedom of movement. url:http://www.merriam-webster.com/dictionary/lame SYMP:0000876 Pericardial effusion is a cardiovascular system symptom where there is an abnormal accumulation of fluid in the pericardial cavity. symptoms SYMP:0000876 doid/symp duplicate pericardial effusion SYMP:0000876 Pericardial effusion is a cardiovascular system symptom where there is an abnormal accumulation of fluid in the pericardial cavity. url:http://en.wikipedia.org/wiki/Pericardial_effusion symptoms SYMP:0000877 decreased tongue tone SYMP:0000877 A fever that is characterized by a rise of body temperature above the normal that is sustained for only a short period of time. symptoms SYMP:0000878 transient fever SYMP:0000878 A fever that is characterized by a rise of body temperature above the normal that is sustained for only a short period of time. url:http://en.wiktionary.org/wiki/fever url:http://en.wiktionary.org/wiki/transient SYMP:0000879 A mild fever that is characterized by a fever that does not exceed 38.5 degrees Celsius (101.3 degrees Fahrenheit). lschriml 2010-10-15T11:28:26Z low grade fever symptoms SYMP:0000879 low-grade fever SYMP:0000879 A mild fever that is characterized by a fever that does not exceed 38.5 degrees Celsius (101.3 degrees Fahrenheit). url:http://www.wrongdiagnosis.com/sym/low_grade_fever.htm A fever that is characterized by as persisting over a prolonged period of time. lschriml 2010-10-15T11:28:26Z symptoms SYMP:0000880 prolonged fever SYMP:0000880 A fever that is characterized by as persisting over a prolonged period of time. url:http://www.wrongdiagnosis.com/sym/prolonged_fever.htm A fever that is characterized by being mild in form. lschriml 2010-10-15T11:28:26Z symptoms SYMP:0000881 mild fever SYMP:0000881 A fever that is characterized by being mild in form. url:http://www.wrongdiagnosis.com/sym/mild_fever.htm SYMP:0000882 A fever that is characterized by an elevated temperature. lschriml 2010-10-15T11:28:26Z symptoms SYMP:0000882 high fever SYMP:0000882 A fever that is characterized by an elevated temperature. url:http://www.wrongdiagnosis.com/sym/high_fever.htm A high fever that is characterized by extremely high temperatures. lschriml 2010-10-15T11:28:26Z symptoms SYMP:0000883 very high fever SYMP:0000883 A high fever that is characterized by extremely high temperatures. url:http://www.wrongdiagnosis.com/sym/very_high_fever.htm A fever that is characterized by an extreme elevation of body temperature greater than, or equal to, 41.5 degrees Celsius (106.7 degrees Fahrenheit). lschriml 2010-10-15T11:38:55Z symptoms SYMP:0000886 hyperpyrexia SYMP:0000886 A fever that is characterized by an extreme elevation of body temperature greater than, or equal to, 41.5 degrees Celsius (106.7 degrees Fahrenheit). url:http://en.wikipedia.org/wiki/Fever A fever that is characterized by association with Hodgkin's lymphoma, where the fever alternates weekly from high to low. lschriml 2010-10-15T11:40:07Z symptoms SYMP:0000887 Pel-Epstein fever SYMP:0000887 A fever that is characterized by association with Hodgkin's lymphoma, where the fever alternates weekly from high to low. url:http://en.wikipedia.org/wiki/Fever A fever that is characterized by a temperature remaining above normal throughout the day and which does not fluctuate more than 1 degree Celsius in 24 hours. lschriml 2010-10-15T11:42:19Z symptoms continued fever SYMP:0000888 continuous fever SYMP:0000888 A fever that is characterized by a temperature remaining above normal throughout the day and which does not fluctuate more than 1 degree Celsius in 24 hours. url:http://en.wikipedia.org/wiki/Fever#Types A fever that is characterized by a fever where the temperature remains above normal throughout the day and fluctuates more than 1 degree Celsius in 24 hours. lschriml 2010-10-15T11:42:19Z symptoms SYMP:0000889 remittent fever SYMP:0000889 A fever that is characterized by a fever where the temperature remains above normal throughout the day and fluctuates more than 1 degree Celsius in 24 hours. url:http://en.wikipedia.org/wiki/Fever#Types SYMP:0000890 A fever that is characterized by body temperature periodically rising and falling. lschriml 2010-10-15T11:46:03Z symptoms SYMP:0000890 doid/symp duplicate relapsing fever SYMP:0000890 A fever that is characterized by body temperature periodically rising and falling. url:https://www.merckmanuals.com/professional/infectious-diseases/spirochetes/relapsing-fever lschriml 2010-10-15T11:48:05Z symptoms SYMP:0000891 musculoskeletal system symptom SYMP:0000891 A nervous system symptom that is characterized by interpretation of the information perceived by sensory receptors. lschriml 2010-10-15T11:54:30Z symptoms SYMP:0000892 sensation perception SYMP:0000892 A nervous system symptom that is characterized by interpretation of the information perceived by sensory receptors. url:http://www.audiblox2000.com/sensation-perception.htm A low blood pressure characterized by or due to abnormally low blood pressure, especially in the arteries of the systemic circulation. lschriml 2011-11-17T12:20:22Z symptoms SYMP:0000893 hypotensive SYMP:0000893 A low blood pressure characterized by or due to abnormally low blood pressure, especially in the arteries of the systemic circulation. url:http://en.wikipedia.org/wiki/Hypotension url:http://www.merriam-webster.com/medlineplus/hypotensive A skin and integumentary tissue symptom that is characterized by cold, moist and sticky skin. lschriml 2011-11-17T12:27:44Z symptoms SYMP:0000894 cold clammy skin SYMP:0000894 A skin and integumentary tissue symptom that is characterized by cold, moist and sticky skin. url:http://www.merriam-webster.com/medlineplus/clammy SYMP:0000895 An acute allergic reaction to an antigen to which the body has become hypersensitive. anaphylaxis symptoms SYMP:0000895 anaphylactic shock SYMP:0000895 An acute allergic reaction to an antigen to which the body has become hypersensitive. url:https://en.wikipedia.org/wiki/Anaphylaxis SYMP:0000896 An abnormal protrusion or displacement of an eye or other body part. exophthalmia exophthalmus proptosis symptoms SYMP:0000896 doid/symp duplicate exophthalmos SYMP:0000896 An abnormal protrusion or displacement of an eye or other body part. url:https://en.wikipedia.org/wiki/Exophthalmos url:https://www.merckmanuals.com/professional/eye-disorders/symptoms-of-ophthalmologic-disorders/proptosis url:https://www.nhs.uk/conditions/bulging-eyes/ A bradycardia associated with the generation of impules in the ventricles when impules from the atria fail to reach them, characterized by an electrocardiogram showing a heart rate below 50 BPM and a broad QRS complex. idioventricular rhythm ventricular escape rhythm symptoms SYMP:0000897 ventricular bradycardia SYMP:0000897 A bradycardia associated with the generation of impules in the ventricles when impules from the atria fail to reach them, characterized by an electrocardiogram showing a heart rate below 50 BPM and a broad QRS complex. url:https://en.wikipedia.org/wiki/Ventricular_escape_beat An arrhythmia characterized by rapid, irregular, and unsynchronized contraction of muscle fibers within the heart. symptoms SYMP:0000898 cardiac fibrillation SYMP:0000898 An arrhythmia characterized by rapid, irregular, and unsynchronized contraction of muscle fibers within the heart. url:https://en.wikipedia.org/wiki/Fibrillation A cardiac fibrillation associated with quivering of the lower chambers of the heart, preventing blood from being pumped and causing cardiac arrest. v-fib symptoms SYMP:0000899 ventricular fibrillation SYMP:0000899 A cardiac fibrillation associated with quivering of the lower chambers of the heart, preventing blood from being pumped and causing cardiac arrest. url:http://www.heart.org/HEARTORG/Conditions/Arrhythmia/AboutArrhythmia/Ventricular-Fibrillation_UCM_324063_Article.jsp#.WvWbgFMvwnU SYMP:0000900 An immune system symptom that is characterized by sensitivities to substances called allergens. symptoms SYMP:0000900 allergic reaction SYMP:0000900 An immune system symptom that is characterized by sensitivities to substances called allergens. url:https://medlineplus.gov/ency/article/000005.htm symptoms SYMP:0017795 hemic and immune system symptom SYMP:0017795 symptoms SYMP:0019138 immune system symptom SYMP:0019138 symptoms SYMP:0019139 hemic system symptom SYMP:0019139 symptoms SYMP:0019140 hematopoietic system symptom SYMP:0019140 symptoms SYMP:0019141 lymphatic system symptom SYMP:0019141 SYMP:0019142 adenopathy symptoms SYMP:0019142 lymphadenopathy SYMP:0019142 symptoms SYMP:0019143 coagulopathy SYMP:0019143 symptoms SYMP:0019144 microangiopathy SYMP:0019144 SYMP:0019145 Vomiting is a digestive system symptom characterized by throwing up the stomach contents. emesis symptoms SYMP:0019145 vomiting SYMP:0019145 Vomiting is a digestive system symptom characterized by throwing up the stomach contents. url:http://www.merriam-webster.com/dictionary/vomiting symptoms SYMP:0019146 hyponatremia SYMP:0019146 SYMP:0019147 A vomiting where there is vomiting of blood. bloody vomit haematemesis vomiting blood symptoms SYMP:0019147 hematemesis SYMP:0019147 A vomiting where there is vomiting of blood. url:http://en.wikipedia.org/wiki/Hematemesis symptoms SYMP:0019148 septicemia SYMP:0019148 symptoms SYMP:0019149 toxemia SYMP:0019149 SYMP:0019151 A respiratory system and chest symptom that is characterized by an abnormal accumulation of fluid in the lungs. oedematous lungs symptoms SYMP:0019151 doid/symp duplicate pulmonary edema SYMP:0019151 A respiratory system and chest symptom that is characterized by an abnormal accumulation of fluid in the lungs. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pulmonary%20edema SYMP:0019152 A sweat that is characterized by excessive sweating commonly associated with shock and other medical emergency conditions. profuse perspiration symptoms SYMP:0019152 diaphoresis SYMP:0019152 A sweat that is characterized by excessive sweating commonly associated with shock and other medical emergency conditions. url:http://en.wikipedia.org/wiki/Diaphoresis SYMP:0019153 A respiratory abnormality that is characterized by difficult or labored respiration. breathing difficulty breathlessness difficulty breathing labored respiration shortness of breath symptoms SYMP:0019153 dyspnea SYMP:0019153 A respiratory abnormality that is characterized by difficult or labored respiration. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dyspnea A respiratory abnormality that is characterized by inflammation of the mediastinum (the chest cavity, which contains the heart, the thymus gland, some lymph nodes, and parts of the esophagus, aorta, thyroid, and parathyroid glands) as the result of bleeding. symptoms SYMP:0019154 hemorrhagic mediastinitis SYMP:0019154 A respiratory abnormality that is characterized by inflammation of the mediastinum (the chest cavity, which contains the heart, the thymus gland, some lymph nodes, and parts of the esophagus, aorta, thyroid, and parathyroid glands) as the result of bleeding. url:https://www.merckmanuals.com/home/lung-and-airway-disorders/pleural-and-mediastinal-disorders/mediastinitis SYMP:0019155 symptoms SYMP:0019155 doid/symp duplicate lymphadenitis SYMP:0019155 symptoms SYMP:0019156 hematogenous SYMP:0019156 SYMP:0019158 A skin and integumentary tissue symptom that is characterized by a scab formed especially after a burn. symptoms SYMP:0019158 eschar SYMP:0019158 A skin and integumentary tissue symptom that is characterized by a scab formed especially after a burn. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=eschar symptoms SYMP:0019159 doid/symp duplicate gastroenteritis SYMP:0019159 SYMP:0019160 A skin and integumentary tissue symptom that is characterized by a localized swelling and inflammation of the skin resulting from usually bacterial infection of a hair follicle and adjacent tissue, having a hard central core, and forming pus. furuncle symptoms SYMP:0019160 boil SYMP:0019160 A skin and integumentary tissue symptom that is characterized by a localized swelling and inflammation of the skin resulting from usually bacterial infection of a hair follicle and adjacent tissue, having a hard central core, and forming pus. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=boil SYMP:0019161 A pain that is characterized by a pain in one or more muscles. SYMP:0000626 myalgia symptoms SYMP:0019161 muscle pain SYMP:0019161 A pain that is characterized by a pain in one or more muscles. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=myalgia SYMP:0019162 symptoms SYMP:0019162 muscle tightness SYMP:0019162 symptoms SYMP:0019163 eye symptom SYMP:0019163 symptoms SYMP:0019164 doid/symp duplicate excessive tearing SYMP:0019164 symptoms SYMP:0019165 light sensitivity SYMP:0019165 A skin and integumentary tissue symptom that is characterized by a small circumscribed elevation of the skin containing pus and having an inflamed base. symptoms SYMP:0019167 pustule SYMP:0019167 A skin and integumentary tissue symptom that is characterized by a small circumscribed elevation of the skin containing pus and having an inflamed base. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pustule SYMP:0019169 Arthritis is a musculoskeletal system symptom characterized as an inflammation of joints due to infectious, metabolic, or constitutional causes. symptoms SYMP:0019169 doid/symp duplicate arthritis SYMP:0019169 Arthritis is a musculoskeletal system symptom characterized as an inflammation of joints due to infectious, metabolic, or constitutional causes. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=arthritis A nervous system symptom that is characterized by an inflammation of the vertebrae. symptoms SYMP:0019171 doid/symp duplicate spondylitis SYMP:0019171 A nervous system symptom that is characterized by an inflammation of the vertebrae. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=spondylitis symptoms SYMP:0019172 ocular lesion SYMP:0019172 SYMP:0019173 A nervous system symptom that is characterized by an inflammation of the meninges and especially of the pia mater and the arachnoid. symptoms SYMP:0019173 meningitis SYMP:0019173 A nervous system symptom that is characterized by an inflammation of the meninges and especially of the pia mater and the arachnoid. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=meningitis SYMP:0019174 rigors symptoms SYMP:0019174 chills SYMP:0019174 A skin and integumentary tissue symptom that is characterized by the excretion of moisture in visible quantities through the opening of the sweat glands. perspire symptoms SYMP:0019175 sweaty SYMP:0019175 A skin and integumentary tissue symptom that is characterized by the excretion of moisture in visible quantities through the opening of the sweat glands. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sweat SYMP:0019176 A neurological and physiological symptom that is characterized by an indefinite feeling of debility or lack of health, often indicative of or accompanying the onset of an illness. symptoms SYMP:0019176 malaise SYMP:0019176 A neurological and physiological symptom that is characterized by an indefinite feeling of debility or lack of health, often indicative of or accompanying the onset of an illness. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malaise SYMP:0019177 A neurological and physiological symptom that is characterized by a weariness or exhaustion from labor, exertion, or stress. symptoms SYMP:0019177 fatigue SYMP:0019177 A neurological and physiological symptom that is characterized by a weariness or exhaustion from labor, exertion, or stress. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=fatigue A skin and integumentary tissue symptom that is characterized by regions of cell death to living tissue in an organ, which has suffered damage through injury or disease, such as a wound, ulcer, abscess, or tumor. symptoms SYMP:0019178 necrotic lesion SYMP:0019178 A skin and integumentary tissue symptom that is characterized by regions of cell death to living tissue in an organ, which has suffered damage through injury or disease, such as a wound, ulcer, abscess, or tumor. url:https://en.wikipedia.org/wiki/Lesion url:https://en.wikipedia.org/wiki/Necrosis SYMP:0019179 A balance symptom that is characterized by a condition of being dizzy or on the verge of fainting, particularly when one arises to a standing position. Lightheadedness is a predictable consequence of any medication tending to lower blood pressure. light-headedness symptoms SYMP:0019179 lightheadedness SYMP:0019179 A balance symptom that is characterized by a condition of being dizzy or on the verge of fainting, particularly when one arises to a standing position. Lightheadedness is a predictable consequence of any medication tending to lower blood pressure. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=light-headedness SYMP:0019180 Constipation is a feces and droppings symptom involving the abnormally delayed or infrequent passage of dry hardened feces. Constipation may be categorized into three subtypes: normal-transit, slow-transit, and pelvic floor dysfunction. symptoms SYMP:0019180 doid/symp duplicate constipation SYMP:0019180 Constipation is a feces and droppings symptom involving the abnormally delayed or infrequent passage of dry hardened feces. Constipation may be categorized into three subtypes: normal-transit, slow-transit, and pelvic floor dysfunction. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=constipation url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170709/ SYMP:0019181 symptoms SYMP:0019181 hoarseness SYMP:0019181 A nervous system symptom that is characterized by an involvement, or relation to, or emphasizes behavior. symptoms SYMP:0019182 behavioral symptom SYMP:0019182 A nervous system symptom that is characterized by an involvement, or relation to, or emphasizes behavior. url:http://dictionary.cambridge.org/dictionary/english/behavioural SYMP:0019183 A behavioral symptom that is characterized by an increase in movement, impulsive actions, a shorter attention span, and being easily distracted. symptoms SYMP:0019183 hyperactivity SYMP:0019183 A behavioral symptom that is characterized by an increase in movement, impulsive actions, a shorter attention span, and being easily distracted. url:https://medlineplus.gov/ency/article/003256.htm SYMP:0019184 A behavioral symptom that is characterized by a restricted rate of information processing by the brain. symptoms SYMP:0019184 limited attention SYMP:0019184 A behavioral symptom that is characterized by a restricted rate of information processing by the brain. url:https://www.ncbi.nlm.nih.gov/pubmed/15084813 A behavioral symptom that is characterized by speech, language and communication needs or communication disabilities. symptoms SYMP:0019185 communication difficulty SYMP:0019185 A behavioral symptom that is characterized by speech, language and communication needs or communication disabilities. url:http://www.mhldcc.org.uk/contents/6-communication-difficulties/a-what-are-communication-difficulties.aspx A behavioral symptom that is characterized by obsessive and highly-focused interests. symptoms SYMP:0019186 obsessive interests SYMP:0019186 A behavioral symptom that is characterized by obsessive and highly-focused interests. url:http://www.autism.org.uk/about/behaviour/obsessions-repetitive-routines.aspx url:https://en.wikipedia.org/wiki/Perseveration SYMP:0019187 A behavioral symptom that is characterized by an unusual repetitive motor movements or manipulation of objects. stimming symptoms SYMP:0019187 repetitive behavior SYMP:0019187 A behavioral symptom that is characterized by an unusual repetitive motor movements or manipulation of objects. url:http://www.autism.org.uk/about/behaviour/obsessions-repetitive-routines.aspx##repetitive A hemorrhage that is characterized by any bleeding occurring within the skull. symptoms SYMP:0019188 intracranial hemorrhage SYMP:0019188 A hemorrhage that is characterized by any bleeding occurring within the skull. url:https://www.ncbi.nlm.nih.gov/books/NBK542273/ A hemorrhage that is characterized by bleeding within the brain tissue itself. symptoms SYMP:0019189 intracerebral hemorrhage SYMP:0019189 A hemorrhage that is characterized by bleeding within the brain tissue itself. url:https://mayfieldclinic.com/pe-ich.htm A hemorrhage that is characterized by bleeding that occurs within the skull of head but outside the actual brain tissue. subdural hematoma symptoms SYMP:0019190 subdural hemorrhage SYMP:0019190 A hemorrhage that is characterized by bleeding that occurs within the skull of head but outside the actual brain tissue. url:https://my.clevelandclinic.org/health/diseases/21183-subdural-hematoma SYMP:0020000 A respiratory system and chest symptom that is characterized by a narrowing in the airway that obstructs the passage of air into the lungs. Examples include tracheal and laryngotracheal stenosis. symptoms SYMP:0020000 airway stenosis SYMP:0020000 A respiratory system and chest symptom that is characterized by a narrowing in the airway that obstructs the passage of air into the lungs. Examples include tracheal and laryngotracheal stenosis. url:https://throatdisorder.com/breathing-disorders/tracheal-stenosis/ url:https://www.ncbi.nlm.nih.gov/books/NBK554561/ SYMP:0020001 A skin ulcer that is characterized by a small recurrent, painful, round or ovoid ulcers with well-defined erythematous margins, like a halo, and a central yellow or gray floor found in the soft tissue of the oral cavity. aphthous stomatitis canker sore symptoms SYMP:0020001 apthous ulcer SYMP:0020001 A skin ulcer that is characterized by a small recurrent, painful, round or ovoid ulcers with well-defined erythematous margins, like a halo, and a central yellow or gray floor found in the soft tissue of the oral cavity. url:https://en.wikipedia.org/wiki/Aphthous_stomatitis SYMP:0020002 symptoms SYMP:0020002 anal abscess SYMP:0020002 SYMP:0020003 clay-colored bowel movement symptoms SYMP:0020003 acholic stool SYMP:0020003 SYMP:0020004 A disturbances of sensation of smell and taste that is characterized by a complete loss of taste function of the tongue. loss of taste symptoms SYMP:0020004 ageusia SYMP:0020004 A disturbances of sensation of smell and taste that is characterized by a complete loss of taste function of the tongue. url:https://www.ncbi.nlm.nih.gov/books/NBK549775/ SYMP:0020005 symptoms SYMP:0020005 acquired color vision deficiency SYMP:0020005 SYMP:0020006 A neurological and physiological symptom that is characterized by a feeling of irritability or severe restlessness. symptoms SYMP:0020006 agitation SYMP:0020006 A neurological and physiological symptom that is characterized by a feeling of irritability or severe restlessness. url:https://www.ncbi.nlm.nih.gov/books/NBK493153/ SYMP:0020007 symptoms SYMP:0020007 anterior scleral inflammation SYMP:0020007 A cough that is characterized by a tight, low-pitched, and barky (like a barking seal) cough. symptoms SYMP:0020008 barking croup cough SYMP:0020008 A cough that is characterized by a tight, low-pitched, and barky (like a barking seal) cough. url:https://www.seattlechildrens.org/conditions/a-z/croup/ symptoms SYMP:0020009 blind spot SYMP:0020009 symptoms SYMP:0020010 blurred vision with haloes SYMP:0020010 symptoms SYMP:0020011 bloody diarrhea SYMP:0020011 symptoms SYMP:0020012 weight symptom SYMP:0020012 A weight loss that is characterized as deviating from what is normal or usual, typically in a way that is undesirable or worrying. symptoms SYMP:0020013 abnormal weight loss SYMP:0020013 A weight loss that is characterized as deviating from what is normal or usual, typically in a way that is undesirable or worrying. url:https://www.merriam-webster.com/dictionary/abnormal A weight loss that is characterized by conditions that last 1 year or more and require ongoing medical attention, or limit activities of daily living, or both. symptoms SYMP:0020014 chronic weight loss SYMP:0020014 A weight loss that is characterized by conditions that last 1 year or more and require ongoing medical attention, or limit activities of daily living, or both. url:https://www.cdc.gov/chronicdisease/about/index.htm# A weight gain that is characterized by a severe and sudden onset. symptoms SYMP:0020016 acute weight gain SYMP:0020016 A weight gain that is characterized by a severe and sudden onset. url:https://medlineplus.gov/ency/imagepages/18126.htm A weight gain that is characterized by conditions that last 1 year or more and require ongoing medical attention, or limit activities of daily living, or both. symptoms SYMP:0020017 chronic weight gain SYMP:0020017 A weight gain that is characterized by conditions that last 1 year or more and require ongoing medical attention, or limit activities of daily living, or both. url:https://www.cdc.gov/chronicdisease/about/index.htm# A weight symptom that is characterized by being too heavy for one’s height. Excess body weight can come from fat, muscle, bone, and/or water retention. Being overweight does not always mean being obese. obesity symptoms SYMP:0020018 overweight SYMP:0020018 A weight symptom that is characterized by being too heavy for one’s height. Excess body weight can come from fat, muscle, bone, and/or water retention. Being overweight does not always mean being obese. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/overweight A nose symptom that is characterized by an an excessive secretion of mucous down the back of the throat. symptoms SYMP:0020019 postnasal drainage SYMP:0020019 SYMP:0020020 symptoms SYMP:0020020 abnormal scar formation SYMP:0020020 SYMP:0020021 symptoms SYMP:0020021 abnormal wound healing SYMP:0020021 SYMP:0020022 An ear symptom - need proper definition - placeholder for xref. symptoms SYMP:0020022 bone conduction hyperacusis SYMP:0020022 An ear symptom - need proper definition - placeholder for xref. url:https://hearinghealthfoundation.org/blogs/deciphering-a-mechanism-behind-bone-conduction-hyperacusis#:~:text=An%20example%20is%20bone%20conduction,canals%20in%20the%20inner%20ear. SYMP:0020023 symptoms SYMP:0020023 bone pain SYMP:0020023 SYMP:0020024 A respiratory system and chest symptom that is characterized by constriction of the air passages of the lung (as in asthma) by spasmodic contraction of the bronchial muscles. symptoms SYMP:0020024 bronchospasm SYMP:0020024 A respiratory system and chest symptom that is characterized by constriction of the air passages of the lung (as in asthma) by spasmodic contraction of the bronchial muscles. url:https://www.merriam-webster.com/dictionary/bronchospasm SYMP:0020025 A respiratory system and chest symptom that is characterized by necrosis of tissue with conversion of damaged tissue into a soft cheesy substance. symptoms SYMP:0020025 caseation SYMP:0020025 A respiratory system and chest symptom that is characterized by necrosis of tissue with conversion of damaged tissue into a soft cheesy substance. url:https://www.merriam-webster.com/dictionary/caseation SYMP:0020026 symptoms SYMP:0020026 chronic inflammation SYMP:0020026 SYMP:0020027 A cough that is characterized by a production and expectoration (bringing up) of mucus (phlegm) or sputum. productive cough symptoms SYMP:0020027 wet cough SYMP:0020027 A cough that is characterized by a production and expectoration (bringing up) of mucus (phlegm) or sputum. url:https://www.webmd.com/lung/productive-cough-causes SYMP:0020028 symptoms SYMP:0020028 poor wound healing SYMP:0020028 SYMP:0020029 An alteration of consciousness that is characterized by a decreased ability to focus one's thoughts on something. Concentration difficulties can be related to difficulty staying awake, impulsiveness, intrusive thoughts or concerns, overactivity, or inattention. They can be caused by medical, cognitive or psychological problems, or, may be related to sleep disorders, medications, alcohol, or drugs. symptoms SYMP:0020029 concentration difficulty SYMP:0020029 An alteration of consciousness that is characterized by a decreased ability to focus one's thoughts on something. Concentration difficulties can be related to difficulty staying awake, impulsiveness, intrusive thoughts or concerns, overactivity, or inattention. They can be caused by medical, cognitive or psychological problems, or, may be related to sleep disorders, medications, alcohol, or drugs. url:https://www.healthgrades.com/right-care/symptoms-and-conditions/concentration-difficulty SYMP:0020030 A hair symptom that is characterized by patchy hair loss and the presence of comedo-like cadaver hairs, which appear as black dots. symptoms SYMP:0020030 patches of hair loss with a black dot pattern SYMP:0020030 A hair symptom that is characterized by patchy hair loss and the presence of comedo-like cadaver hairs, which appear as black dots. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4148295/ SYMP:0020031 A respiratory system and chest symptom that is characterized by pain, pressure, tightness, or other discomfort originating in or radiating to the chest, which constitutes an important indicator of potentially serious cardiac or cardiovascular disorders. symptoms SYMP:0020031 chest discomfort SYMP:0020031 A respiratory system and chest symptom that is characterized by pain, pressure, tightness, or other discomfort originating in or radiating to the chest, which constitutes an important indicator of potentially serious cardiac or cardiovascular disorders. url:https://www.ncbi.nlm.nih.gov/books/NBK416/ SYMP:0020032 A chest discomfort that is characterized by any type of pain or discomfort between your upper belly and lower neck. symptoms SYMP:0020032 chest tightness SYMP:0020032 A cough that is characterized by a persistent cough with sudden onset due to difficulty expelling thick mucus from the tracheobronchial tree. This type of cough is associated with diseases such as Pertussis (Whooping Cough). symptoms SYMP:0020033 paroxysmal cough SYMP:0020033 symptoms SYMP:0020034 conjunctiva symptom SYMP:0020034 SYMP:0020035 An eye symptom that is characterized by (need def conjunctival congestion - placeholder for xref). symptoms SYMP:0020035 conjunctival congestion SYMP:0020035 An eye symptom that is characterized by (need def conjunctival congestion - placeholder for xref). url:https://pubmed.ncbi.nlm.nih.gov/32283878/ SYMP:0020036 symptoms SYMP:0020036 conjunctival degeneration SYMP:0020036 SYMP:0020037 An eye symptom that is characterized by (need def conjunctival suffusion - placeholder for xref). symptoms SYMP:0020037 conjunctival suffusion SYMP:0020037 An eye symptom that is characterized by (need def conjunctival suffusion - placeholder for xref). url:https://en.wikipedia.org/wiki/Conjunctival_suffusion SYMP:0020038 symptoms SYMP:0020038 conjunctival swelling SYMP:0020038 SYMP:0020039 A musculoskeletal system symptom that is characterized by a permanent tightening of the muscles, tendons, skin, and nearby tissues that causes the joints to shorten and become very stiff. symptoms SYMP:0020039 contracture SYMP:0020039 A musculoskeletal system symptom that is characterized by a permanent tightening of the muscles, tendons, skin, and nearby tissues that causes the joints to shorten and become very stiff. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/contracture symptoms SYMP:0020040 hair symptom SYMP:0020040 SYMP:0020041 A hair symptom that is characterized by coiled “corkscrew” hairs on the surface of the arms, legs and chest, which can occur as a result low level of ascorbic acid (vitamin C). symptoms SYMP:0020041 corkscrew hair SYMP:0020041 A hair symptom that is characterized by coiled “corkscrew” hairs on the surface of the arms, legs and chest, which can occur as a result low level of ascorbic acid (vitamin C). url:https://medlineplus.gov/ency/imagepages/2345.htm url:https://www.ccjm.org/content/ccjom/82/4/216.full.pdf url:https://www.miningjournal.net/life/tuesday-health/2021/09/urology-pearls-the-mystery-of-the-corkscrew-hair-part-2/ SYMP:0020042 A cornea symptom that is characterized by scarring (an opacity or irregularity in the cornea) of the cornea, from trauma; abrasion; bacterial, fungal, viral, or parasitic infection; or disease, and can result in impaired vision, or even blindness. symptoms SYMP:0020042 corneal scarring SYMP:0020042 A cornea symptom that is characterized by scarring (an opacity or irregularity in the cornea) of the cornea, from trauma; abrasion; bacterial, fungal, viral, or parasitic infection; or disease, and can result in impaired vision, or even blindness. url:https://drstuartterry.com/eye-conditions/corneal-scarring/ url:https://www.neohioeyes.com/cornea-center/corneal-scar/ SYMP:0020043 A urinary system symptom that is characterized by an elevation in the concentration of the the pigments from foods, dyes, and medications in urine. The dilution of these pigment is dependent on the amount of water intake and severe dehydration can lead to a dark color. symptoms SYMP:0020043 dark urine SYMP:0020043 A urinary system symptom that is characterized by an elevation in the concentration of the the pigments from foods, dyes, and medications in urine. The dilution of these pigment is dependent on the amount of water intake and severe dehydration can lead to a dark color. url:https://www.mayoclinic.org/diseases-conditions/urine-color/symptoms-causes/syc-20367333 A hair symptom that is characterized by significant falling out of hair, which may be a result of stress, high fever, and other factors. symptoms SYMP:0020044 hair shedding SYMP:0020044 A hair symptom that is characterized by significant falling out of hair, which may be a result of stress, high fever, and other factors. url:https://www.aad.org/public/diseases/hair-loss/insider/shedding A neurological and physiological symptom that is characterized by any of the following: dizziness or vertigo (a spinning sensation); falling or feeling as if you are going to fall; staggering when walking; lightheadedness, faintness, or a floating sensation; and confusion or disorientation. symptoms SYMP:0020045 balance symptom SYMP:0020045 A neurological and physiological symptom that is characterized by any of the following: dizziness or vertigo (a spinning sensation); falling or feeling as if you are going to fall; staggering when walking; lightheadedness, faintness, or a floating sensation; and confusion or disorientation. url:https://www.nidcd.nih.gov/health/balance-disorders SYMP:0020046 A feeding difficulties and mismanagement that is characterized by delays and/or disorders in the development of eating and drinking skills including disordered placement of food in the mouth, difficulty in appropriately manipulating food when it is in the mouth, difficulty chewing, and/or difficulty swallowing. symptoms SYMP:0020046 feeding problem SYMP:0020046 A feeding difficulties and mismanagement that is characterized by delays and/or disorders in the development of eating and drinking skills including disordered placement of food in the mouth, difficulty in appropriately manipulating food when it is in the mouth, difficulty chewing, and/or difficulty swallowing. url:https://link.springer.com/referenceworkentry/10.1007/978-1-4419-1698-3_1666 SYMP:0020047 A paralysis that is characterized by a loss of motor function in one or more muscles, which can also be accompanied by a loss of feeling (sensory loss). Descending paralysis contrasts with ascending paralysis in that descending paralysis presents in the upper limbs before the lower limbs. Descending paralysis occurs in conditions such as botulism. symptoms SYMP:0020047 descending muscle paralysis SYMP:0020047 A paralysis that is characterized by a loss of motor function in one or more muscles, which can also be accompanied by a loss of feeling (sensory loss). Descending paralysis contrasts with ascending paralysis in that descending paralysis presents in the upper limbs before the lower limbs. Descending paralysis occurs in conditions such as botulism. url:https://en.wikipedia.org/wiki/Paralysis SYMP:0020048 symptoms SYMP:0020048 skin peeling SYMP:0020048 SYMP:0020049 A nutrition, metabolism, and development symptom that is characterized by the delay in development child's cognitive, emotional, motor, and social capacities from the beginning of life throughout fetal and neonatal periods, infancy, childhood, and adolescence. symptoms SYMP:0020049 delayed psychomotor development SYMP:0020049 A nutrition, metabolism, and development symptom that is characterized by the delay in development child's cognitive, emotional, motor, and social capacities from the beginning of life throughout fetal and neonatal periods, infancy, childhood, and adolescence. url:https://pubmed.ncbi.nlm.nih.gov/23622146/ url:https://www.webmd.com/parenting/baby/recognizing-developmental-delays-birth-age-2 SYMP:0020050 An eye symptom that is characterized by a reduction in the saline fluid secreted by the lacrimal gland. symptoms SYMP:0020050 decreased tearing SYMP:0020050 An eye symptom that is characterized by a reduction in the saline fluid secreted by the lacrimal gland. url:https://www.merriam-webster.com/dictionary/tear SYMP:0020051 A nutrition, metabolism, and development symptom that is characterized by a reduction in the chemical reactions catalyzed by enzymes, which keep us alive. Metabolism allows organisms to grow, reproduce, maintain their structures, and respond to their environments and can be divided into catabolism (breaking down of organic matter) and anabolism (building of molecules). symptoms SYMP:0020051 decreased metabolism SYMP:0020051 A nutrition, metabolism, and development symptom that is characterized by a reduction in the chemical reactions catalyzed by enzymes, which keep us alive. Metabolism allows organisms to grow, reproduce, maintain their structures, and respond to their environments and can be divided into catabolism (breaking down of organic matter) and anabolism (building of molecules). url:https://simple.wikipedia.org/wiki/Metabolism SYMP:0020052 A muscle weakness that is characterized by a reduction in muscle strength, which may be the result of a variety of conditions, such as carpal tunnel syndrome, arthritis, peripheral neuropathy, tendon damage, and ganglion cysts. symptoms SYMP:0020052 hand weakness SYMP:0020052 A muscle weakness that is characterized by a reduction in muscle strength, which may be the result of a variety of conditions, such as carpal tunnel syndrome, arthritis, peripheral neuropathy, tendon damage, and ganglion cysts. url:https://www.buoyhealth.com/learn/hand-weakness url:https://www.medicalnewstoday.com/articles/hand-weakness A skin and integumentary tissue symptom that is characterized by an inflammation of the mammary gland or udder and usually caused by infection. inflammation of mammary breast mammitis symptoms SYMP:0020053 mammary gland inflammation SYMP:0020053 A skin and integumentary tissue symptom that is characterized by an inflammation of the mammary gland or udder and usually caused by infection. url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=mastitis A mammary gland inflammation that is characterized by an increased intensity or severity of the condition. symptoms SYMP:0020054 severe mammary gland inflammation SYMP:0020054 A mammary gland inflammation that is characterized by an increased intensity or severity of the condition. url:https://medical-dictionary.thefreedictionary.com/severe SYMP:0020055 symptoms SYMP:0020055 pharynx inflammation SYMP:0020055 SYMP:0020056 A nervous system symptom that is characterized by a loss of blood flow to part of the brain, which damages brain tissue. Cerebrovascular accidents are caused by blood clots and broken blood vessels in the brain. apoplexy cerebral accident cerebral hemorrhage symptoms SYMP:0020056 cerebrovascular accident SYMP:0020056 A nervous system symptom that is characterized by a loss of blood flow to part of the brain, which damages brain tissue. Cerebrovascular accidents are caused by blood clots and broken blood vessels in the brain. url:https://www.healthline.com/health/cerebrovascular-accident A respiratory system and chest symptom that is characterized by acute inflammation of the bronchi, accompanied by inflamed patches in the nearby lobules of the lungs. symptoms SYMP:0020057 bronchiole inflammation SYMP:0020057 A respiratory system and chest symptom that is characterized by acute inflammation of the bronchi, accompanied by inflamed patches in the nearby lobules of the lungs. url:https://en.wikipedia.org/wiki/Bronchopneumonia symptoms SYMP:0020058 severe bronchiole inflammation SYMP:0020058 symptoms SYMP:0020059 suppurative bronchiole inflammation SYMP:0020059 SYMP:0020060 symptoms SYMP:0020060 low white blood cell count SYMP:0020060 A constipation that is characterized by difficulty passing bowel movements after they reach the rectum. One experiences difficulty evacuating the stool and often has to strain or press the fingers into the vagina or in front of or into the rectum to help remove the stool. Outlet dysfunction can be caused by inappropriate or abnormal muscle contraction of the pelvic floor (called pelvic floor dyssynergia or dyssynergic defecation) which can respond to biofeedback. It may also be due to a rectocele or other structural changes in the pelvic floor that will require medical or at times, surgical treatment. ICD10CM:K59.02 ICD9CM:564.02 UMLS_CUI:C0949134 symptoms SYMP:0020061 outlet dysfunction constipation SYMP:0020061 A constipation that is characterized by difficulty passing bowel movements after they reach the rectum. One experiences difficulty evacuating the stool and often has to strain or press the fingers into the vagina or in front of or into the rectum to help remove the stool. Outlet dysfunction can be caused by inappropriate or abnormal muscle contraction of the pelvic floor (called pelvic floor dyssynergia or dyssynergic defecation) which can respond to biofeedback. It may also be due to a rectocele or other structural changes in the pelvic floor that will require medical or at times, surgical treatment. url:https://www.med.unc.edu/ibs/wp-content/uploads/sites/450/2017/10/Constipation.pdf A musculoskeletal system symptom that is characterized by necrosis (i.e. tissue death) of soft tissue, including muscle, fat, blood vessels, nerves, tendons, and tissues that surround the bones and joints. symptoms SYMP:0020062 soft tissue necrosis SYMP:0020062 A musculoskeletal system symptom that is characterized by necrosis (i.e. tissue death) of soft tissue, including muscle, fat, blood vessels, nerves, tendons, and tissues that surround the bones and joints. url:https://medlineplus.gov/ency/article/001443.htm url:https://www.health.ny.gov/statistics/cancer/registry/abouts/soft_tissue.htm symptoms SYMP:0020063 blood pressure SYMP:0020063 SYMP:0020064 symptoms SYMP:0020064 high blood pressure SYMP:0020064 A process that is the means during which the pathogen is transmitted directly or indirectly from its natural reservoir, a susceptible host or source to a new host. transmission_process TRANS:0000000 transmission process TRANS:0000000 A process that is the means during which the pathogen is transmitted directly or indirectly from its natural reservoir, a susceptible host or source to a new host. https://courses.lumenlearning.com/microbiology/chapter/modes-of-disease-transmission/ https://www.cdc.gov/csels/dsepd/ss1978/lesson1/section10.html Direct transmission is a transmission process that is the means during which the pathogen is transmitted immediately from a reservoir, source or host to another host. transmission_process TRANS:0000001 direct transmission TRANS:0000001 Direct transmission is a transmission process that is the means during which the pathogen is transmitted immediately from a reservoir, source or host to another host. https://dhss.delaware.gov/dph/files/directindtranspi.pdf https://www.cdc.gov/csels/dsepd/ss1978/lesson1/section10.html Indirect transmission is a transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by intermediary vehicles, vectors or as airborne dust particles. transmission_process TRANS:0000002 indirect transmission TRANS:0000002 Indirect transmission is a transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by intermediary vehicles, vectors or as airborne dust particles. https://www.cdc.gov/csels/dsepd/ss1978/lesson1/section10.html Mechanical transmission is an indirect vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by being transported on the external surface of the vector. transmission_process TRANS:0000003 mechanical transmission TRANS:0000003 Mechanical transmission is an indirect vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by being transported on the external surface of the vector. https://www.cdc.gov/csels/dsepd/ss1978/lesson1/section10.html TRANS:0000005 Vector-borne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary vector to another host. Most vectors are arthropods such as mosquitoes, fleas, and ticks. transmission_process TRANS:0000005 vector-borne transmission TRANS:0000005 Vector-borne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary vector to another host. Most vectors are arthropods such as mosquitoes, fleas, and ticks. https://en.wikipedia.org/wiki/Vector_(epidemiology) https://www.cdc.gov/csels/dsepd/ss1978/lesson1/section10.html TRANS:0000006 Congenital transmission is a direct transmission process during which the pathogen is transmitted directly from mother to child at or around the time of birth. mother-to-child transmission transmission_process TRANS:0000006 congenital transmission TRANS:0000006 Congenital transmission is a direct transmission process during which the pathogen is transmitted directly from mother to child at or around the time of birth. http://www.m-w.com/dictionary/congenital TRANS:0000007 Contact transmission is a direct transmission process during which the pathogen is transmitted from a reservoir, source or host to another host by kissing, skin-to-skin contact, sexual intercourse, or by contact with soil or vegetation containing the pathogen. transmission_process TRANS:0000007 contact transmission TRANS:0000007 Contact transmission is a direct transmission process during which the pathogen is transmitted from a reservoir, source or host to another host by kissing, skin-to-skin contact, sexual intercourse, or by contact with soil or vegetation containing the pathogen. https://www.cdc.gov/csels/dsepd/ss1978/lesson1/section10.html TRANS:0000008 Droplet spread transmission is a direct transmission process during which the pathogen is transmitted from a reservoir, source or host to another host by spray of aerosols over a short distance, spray from sneezing, coughing or talking. transmission_process TRANS:0000008 droplet spread transmission TRANS:0000008 Droplet spread transmission is a direct transmission process during which the pathogen is transmitted from a reservoir, source or host to another host by spray of aerosols over a short distance, spray from sneezing, coughing or talking. https://www.cdc.gov/csels/dsepd/ss1978/lesson1/section10.html TRANS:0000009 Airborne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host while suspended in the air as dust. transmission_process TRANS:0000009 airborne transmission TRANS:0000009 Airborne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host while suspended in the air as dust. https://en.wikipedia.org/wiki/Airborne_disease#Transmission Vehicle-borne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by inanimate intermediary vehicle objects. transmission_process TRANS:0000010 vehicle-borne transmission TRANS:0000010 Vehicle-borne transmission is an indirect transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by inanimate intermediary vehicle objects. https://www.cdc.gov/csels/dsepd/ss1978/lesson1/section10.html TRANS:0000011 Vehicle-borne fomite transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by inanimate objects including: medical instruments, cloth, fur, metal or plastic utensils. transmission_process TRANS:0000011 vehicle-borne fomite transmission TRANS:0000011 Vehicle-borne fomite transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by inanimate objects including: medical instruments, cloth, fur, metal or plastic utensils. https://www.cdc.gov/csels/dsepd/ss1978/lesson1/section10.html TRANS:0000012 Vehicle-borne ingestion transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by ingestion of fluids or foods or food products including: food, water, milk, or meat products. transmission_process TRANS:0000012 vehicle-borne ingestion transmission TRANS:0000012 Vehicle-borne ingestion transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by ingestion of fluids or foods or food products including: food, water, milk, or meat products. https://www.cdc.gov/csels/dsepd/ss1978/lesson1/section10.html TRANS:0000013 Vehicle-borne medical transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by biological products including: blood, serum, plasma, tissue, or organs. transmission_process TRANS:0000013 vehicle-borne medical transmission TRANS:0000013 Vehicle-borne medical transmission is an indirect vehicle-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host to another host by biological products including: blood, serum, plasma, tissue, or organs. https://www.cdc.gov/csels/dsepd/ss1978/lesson1/section10.html TRANS:0000014 Vector-borne bite transmission is an indirect vector-borne transmission during which the pathogen is indirectly transferred by insect bites from a reservoir, source or host via a vector to another host. transmission_process TRANS:0000014 vector-borne bite transmission TRANS:0000014 Vector-borne bite transmission is an indirect vector-borne transmission during which the pathogen is indirectly transferred by insect bites from a reservoir, source or host via a vector to another host. https://www.cdc.gov/csels/dsepd/ss1978/lesson1/section10.html Biological transmission is an indirect vector-borne transmission process during which the pathogen is transported, from a reservoir, source or host to another host, within the vector and undergoes part of it's lifecycle in the vector. vector-borne gastro-intestinal transmission_process TRANS:0000015 biologic transmission TRANS:0000015 Biological transmission is an indirect vector-borne transmission process during which the pathogen is transported, from a reservoir, source or host to another host, within the vector and undergoes part of it's lifecycle in the vector. https://www.oie.int/doc/ged/D6818.PDF TRANS:0000018 Placental transmission is a congenital transmission process during which the pathogen is transmitted directly from mother to child across the placental barrier. transmission_process TRANS:0000018 placental transmission TRANS:0000018 Placental transmission is a congenital transmission process during which the pathogen is transmitted directly from mother to child across the placental barrier. http://www.nlm.nih.gov/medlineplus/mplusdictionary.html Arthropod borne transmission is a vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary arthropod vector to another host. transmission_process TRANS:0000019 arthropod borne transmission TRANS:0000019 Arthropod borne transmission is a vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary arthropod vector to another host. https://www.cdc.gov/csels/dsepd/ss1978/lesson1/section10.html TRANS:0000020 Insect borne transmission is an arthropod vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary insect vector such as a flea or mosquito to another host. transmission_process TRANS:0000020 insect borne transmission TRANS:0000020 Insect borne transmission is an arthropod vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary insect vector such as a flea or mosquito to another host. http://www.cals.ncsu.edu/course/ent425/text18/humanvectors.html Mosquito borne transmission is an insect borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary mosquito vector to another host. transmission_process TRANS:0000021 mosquito borne transmission TRANS:0000021 Mosquito borne transmission is an insect borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary mosquito vector to another host. http://en.wikipedia.org/wiki/Mosquito Anopheles gambiae borne transmission is a mosquito borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary mosquito vector of the species Anopheles gambiae to another host. transmission_process TRANS:0000022 Anopheles gambiae borne transmission TRANS:0000022 Anopheles gambiae borne transmission is a mosquito borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary mosquito vector of the species Anopheles gambiae to another host. http://en.wikipedia.org/wiki/Mosquito TRANS:0000023 Flea borne transmission is an insect borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary flea vector to another host. transmission_process TRANS:0000023 flea borne transmission TRANS:0000023 Flea borne transmission is an insect borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary flea vector to another host. http://en.wikipedia.org/wiki/Flea TRANS:0000024 Tick borne transmission is an arachnid borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary tick vector to another host. transmission_process TRANS:0000024 tick borne transmission TRANS:0000024 Tick borne transmission is an arachnid borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary tick vector to another host. http://en.wikipedia.org/wiki/Tick http://en.wikipedia.org/wiki/Vector_%28disease%29 Copepod borne transmission is a vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary copepod vector to another host. transmission_process TRANS:0000025 copepod borne transmission TRANS:0000025 Copepod borne transmission is a vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary copepod vector to another host. https://www.cdc.gov/csels/dsepd/ss1978/lesson1/section10.html Dracunculus medinensis borne transmission is a copepod borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary copepod vector of the species Dracunculus medinensis to another host. Guinea worm borne transmission_process TRANS:0000026 Dracunculus medinensis borne transmission TRANS:0000026 Dracunculus medinensis borne transmission is a copepod borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an animate intermediary copepod vector of the species Dracunculus medinensis to another host. https://www.cdc.gov/csels/dsepd/ss1978/lesson1/section10.html Arachnid borne transmission is an arthropod vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary arthropod vector such as a tick to another host. transmission_process TRANS:0000027 arachnid borne transmission TRANS:0000027 Arachnid borne transmission is an arthropod vector-borne transmission process during which the pathogen is indirectly transferred from a reservoir, source or host via an intermediary arthropod vector such as a tick to another host. http://en.wikipedia.org/wiki/Vector_%28disease%29 Propagative transmission is an indirect vector-borne biological transmission process during which the pathogen that is ingested with the blood meal undergoes simple multiplication in the body of the vector. transmission_process TRANS:0000028 propagative transmission TRANS:0000028 Propagative transmission is an indirect vector-borne biological transmission process during which the pathogen that is ingested with the blood meal undergoes simple multiplication in the body of the vector. https://www.oie.int/doc/ged/D6818.PDF Cyclopropagative transmission is an indirect vector-borne biological transmission process during which the pathogen undergoes a developmental cycle (changes from one stage to another) as well as multiplication in the body of the vector. transmission_process TRANS:0000029 cyclopropagative transmission TRANS:0000029 Cyclopropagative transmission is an indirect vector-borne biological transmission process during which the pathogen undergoes a developmental cycle (changes from one stage to another) as well as multiplication in the body of the vector. https://www.oie.int/doc/ged/D6818.PDF Cyclodevelopmental transmission is an indirect vector-borne biological transmission process during which the pathogen undergoes developmental changes from one stage to another, but does not multiply. transmission_process TRANS:0000030 cyclodevelopmental transmission TRANS:0000030 Cyclodevelopmental transmission is an indirect vector-borne biological transmission process during which the pathogen undergoes developmental changes from one stage to another, but does not multiply. https://www.oie.int/doc/ged/D6818.PDF Transovarial transmission is an indirect vector-borne biological transmission process during which the pathogen is transmitted from the female parent through the eggs to the offspring and the developing egg is infected. transmission_process TRANS:0000031 transovarial transmission TRANS:0000031 Transovarial transmission is an indirect vector-borne biological transmission process during which the pathogen is transmitted from the female parent through the eggs to the offspring and the developing egg is infected. https://www.oie.int/doc/ged/D6818.PDF Vertical transmission is an indirect vector-borne biological transmission process during which the pathogen is transmitted from the female parent through the eggs to the offspring. Only the ovarial sheath and oviduct are infected. The egg becomes infected as it passes down the oviduct and is inseminated. transmission_process TRANS:0000032 vertical transmission TRANS:0000032 Vertical transmission is an indirect vector-borne biological transmission process during which the pathogen is transmitted from the female parent through the eggs to the offspring. Only the ovarial sheath and oviduct are infected. The egg becomes infected as it passes down the oviduct and is inseminated. https://www.oie.int/doc/ged/D6818.PDF Trans-stadial transmission is an indirect vector-borne biological transmission process during which the newly hatched larval stages are infected with the pathogen, which is then transmitted to subsequent development stages of the vector. transmission_process TRANS:0000033 trans-stadial transmission TRANS:0000033 Trans-stadial transmission is an indirect vector-borne biological transmission process during which the newly hatched larval stages are infected with the pathogen, which is then transmitted to subsequent development stages of the vector. https://www.oie.int/doc/ged/D6818.PDF Veneral transmission is an indirect vector-borne biological transmission process during which the pathogen is transferred to uninfected female vectors in the seminal fluid during copulation. transmission_process TRANS:0000034 veneral transmission TRANS:0000034 Veneral transmission is an indirect vector-borne biological transmission process during which the pathogen is transferred to uninfected female vectors in the seminal fluid during copulation. https://www.oie.int/doc/ged/D6818.PDF UBERON:0000002 UBERON:0000002 uterine cervix UBERON:0000002 UBERON:0000004 UBERON:0000004 nose UBERON:0000004 UBERON:0000006 UBERON:0000006 islet of Langerhans UBERON:0000006 UBERON:0000007 UBERON:0000007 pituitary gland UBERON:0000007 UBERON:0000010 UBERON:0000010 peripheral nervous system UBERON:0000010 UBERON:0000014 UBERON:0000014 zone of skin UBERON:0000014 UBERON:0000016 UBERON:0000016 endocrine pancreas UBERON:0000016 UBERON:0000017 UBERON:0000017 exocrine pancreas UBERON:0000017 UBERON:0000020 sense organ UBERON:0000020 UBERON:0000021 cutaneous appendage UBERON:0000021 UBERON:0000025 tube UBERON:0000025 UBERON:0000026 appendage UBERON:0000026 UBERON:0000029 UBERON:0000029 lymph node UBERON:0000029 UBERON:0000033 UBERON:0000033 head UBERON:0000033 UBERON:0000042 serous membrane UBERON:0000042 UBERON:0000045 ganglion UBERON:0000045 UBERON:0000055 vessel UBERON:0000055 UBERON:0000056 UBERON:0000056 ureter UBERON:0000056 UBERON:0000057 UBERON:0000057 urethra UBERON:0000057 UBERON:0000058 duct UBERON:0000058 UBERON:0000059 UBERON:0000059 large intestine UBERON:0000059 UBERON:0000060 anatomical wall UBERON:0000060 UBERON:0000061 anatomical structure UBERON:0000061 UBERON:0000062 organ UBERON:0000062 UBERON:0000063 organ subunit UBERON:0000063 UBERON:0000064 organ part UBERON:0000064 UBERON:0000065 UBERON:0000065 respiratory tract UBERON:0000065 UBERON:0000072 proximo-distal subdivision of respiratory tract UBERON:0000072 UBERON:0000073 regional part of nervous system UBERON:0000073 UBERON:0000074 UBERON:0000074 renal glomerulus UBERON:0000074 UBERON:0000075 subdivision of skeletal system UBERON:0000075 UBERON:0000079 UBERON:0000079 male reproductive system UBERON:0000079 UBERON:0000083 mesonephric tubule UBERON:0000083 UBERON:0000093 sulcus UBERON:0000093 UBERON:0000094 membrane organ UBERON:0000094 UBERON:0000114 UBERON:0000114 lung connective tissue UBERON:0000114 UBERON:0000117 respiratory tube UBERON:0000117 UBERON:0000119 cell layer UBERON:0000119 UBERON:0000122 neuron projection bundle UBERON:0000122 UBERON:0000159 UBERON:0000159 anal canal UBERON:0000159 UBERON:0000160 UBERON:0000160 intestine UBERON:0000160 UBERON:0000161 orifice UBERON:0000161 UBERON:0000165 UBERON:0000165 mouth UBERON:0000165 UBERON:0000167 UBERON:0000167 oral cavity UBERON:0000167 UBERON:0000168 proximal-distal subdivision of colon UBERON:0000168 UBERON:0000171 respiration organ UBERON:0000171 UBERON:0000178 UBERON:0000178 blood UBERON:0000178 UBERON:0000179 haemolymphatic fluid UBERON:0000179 UBERON:0000211 ligament UBERON:0000211 UBERON:0000304 UBERON:0000304 tendon sheath UBERON:0000304 UBERON:0000310 UBERON:0000310 breast UBERON:0000310 UBERON:0000341 UBERON:0000341 throat UBERON:0000341 UBERON:0000344 UBERON:0000344 mucosa UBERON:0000344 UBERON:0000362 UBERON:0000362 renal medulla UBERON:0000362 UBERON:0000366 flexor muscle UBERON:0000366 UBERON:0000379 tracheal mucosa UBERON:0000379 UBERON:0000382 UBERON:0000382 apocrine sweat gland UBERON:0000382 UBERON:0000388 UBERON:0000388 epiglottis UBERON:0000388 UBERON:0000391 UBERON:0000391 leptomeninx UBERON:0000391 UBERON:0000402 nasal vestibule UBERON:0000402 UBERON:0000403 UBERON:0000403 scalp UBERON:0000403 UBERON:0000409 serous gland UBERON:0000409 UBERON:0000411 UBERON:0000411 visual cortex UBERON:0000411 UBERON:0000414 UBERON:0000414 mucous gland UBERON:0000414 UBERON:0000423 UBERON:0000423 eccrine sweat gland UBERON:0000423 UBERON:0000458 UBERON:0000458 endocervix UBERON:0000458 UBERON:0000460 UBERON:0000460 major vestibular gland UBERON:0000460 UBERON:0000463 organism substance UBERON:0000463 UBERON:0000464 anatomical space UBERON:0000464 UBERON:0000465 material anatomical entity UBERON:0000465 UBERON:0000466 immaterial anatomical entity UBERON:0000466 UBERON:0000467 anatomical system UBERON:0000467 UBERON:0000471 compound organ component UBERON:0000471 UBERON:0000473 UBERON:0000473 testis UBERON:0000473 UBERON:0000474 UBERON:0000474 female reproductive system UBERON:0000474 UBERON:0000475 organism subdivision UBERON:0000475 UBERON:0000477 anatomical cluster UBERON:0000477 UBERON:0000479 tissue UBERON:0000479 UBERON:0000481 multi-tissue structure UBERON:0000481 UBERON:0000483 epithelium UBERON:0000483 UBERON:0000487 simple squamous epithelium UBERON:0000487 UBERON:0000489 cavitated compound organ UBERON:0000489 UBERON:0000490 unilaminar epithelium UBERON:0000490 UBERON:0000915 UBERON:0000915 thoracic segment of trunk UBERON:0000915 UBERON:0000916 UBERON:0000916 abdomen UBERON:0000916 UBERON:0000923 germ layer UBERON:0000923 UBERON:0000924 UBERON:0000924 ectoderm UBERON:0000924 UBERON:0000925 UBERON:0000925 endoderm UBERON:0000925 UBERON:0000926 UBERON:0000926 mesoderm UBERON:0000926 UBERON:0000941 UBERON:0000941 cranial nerve II UBERON:0000941 UBERON:0000945 UBERON:0000945 stomach UBERON:0000945 UBERON:0000946 UBERON:0000946 cardiac valve UBERON:0000946 UBERON:0000947 UBERON:0000947 aorta UBERON:0000947 UBERON:0000948 UBERON:0000948 heart UBERON:0000948 UBERON:0000949 UBERON:0000949 endocrine system UBERON:0000949 UBERON:0000955 UBERON:0000955 brain UBERON:0000955 UBERON:0000956 UBERON:0000956 cerebral cortex UBERON:0000956 UBERON:0000957 lamina UBERON:0000957 UBERON:0000958 medulla of organ UBERON:0000958 UBERON:0000959 UBERON:0000959 optic chiasma UBERON:0000959 UBERON:0000964 UBERON:0000964 cornea UBERON:0000964 UBERON:0000965 lens of camera-type eye UBERON:0000965 UBERON:0000966 UBERON:0000966 retina UBERON:0000966 UBERON:0000970 UBERON:0000970 eye UBERON:0000970 UBERON:0000974 UBERON:0000974 neck UBERON:0000974 UBERON:0000975 UBERON:0000975 sternum UBERON:0000975 UBERON:0000976 UBERON:0000976 humerus UBERON:0000976 UBERON:0000977 UBERON:0000977 pleura UBERON:0000977 UBERON:0000978 UBERON:0000978 leg UBERON:0000978 UBERON:0000979 UBERON:0000979 tibia UBERON:0000979 UBERON:0000981 UBERON:0000981 femur UBERON:0000981 UBERON:0000982 UBERON:0000982 skeletal joint UBERON:0000982 UBERON:0000989 UBERON:0000989 penis UBERON:0000989 UBERON:0000990 UBERON:0000990 reproductive system UBERON:0000990 UBERON:0000991 UBERON:0000991 gonad UBERON:0000991 UBERON:0000992 UBERON:0000992 ovary UBERON:0000992 UBERON:0000995 UBERON:0000995 uterus UBERON:0000995 UBERON:0000996 UBERON:0000996 vagina UBERON:0000996 UBERON:0000997 UBERON:0000997 mammalian vulva UBERON:0000997 UBERON:0000998 UBERON:0000998 seminal vesicle UBERON:0000998 UBERON:0001003 UBERON:0001003 skin epidermis UBERON:0001003 UBERON:0001004 UBERON:0001004 respiratory system UBERON:0001004 UBERON:0001005 respiratory airway UBERON:0001005 UBERON:0001007 UBERON:0001007 digestive system UBERON:0001007 UBERON:0001008 UBERON:0001008 renal system UBERON:0001008 UBERON:0001013 UBERON:0001013 adipose tissue UBERON:0001013 UBERON:0001016 UBERON:0001016 nervous system UBERON:0001016 UBERON:0001017 UBERON:0001017 central nervous system UBERON:0001017 UBERON:0001018 axon tract UBERON:0001018 UBERON:0001020 nervous system commissure UBERON:0001020 UBERON:0001021 UBERON:0001021 nerve UBERON:0001021 UBERON:0001032 UBERON:0001032 sensory system UBERON:0001032 UBERON:0001037 UBERON:0001037 strand of hair UBERON:0001037 UBERON:0001043 UBERON:0001043 esophagus UBERON:0001043 UBERON:0001044 UBERON:0001044 saliva-secreting gland UBERON:0001044 UBERON:0001051 UBERON:0001051 hypopharynx UBERON:0001051 UBERON:0001052 UBERON:0001052 rectum UBERON:0001052 UBERON:0001062 anatomy UBERON:0001062 UBERON:0001066 UBERON:0001066 intervertebral disk UBERON:0001066 UBERON:0001085 skin of trunk UBERON:0001085 UBERON:0001091 UBERON:0001091 calcareous tooth UBERON:0001091 UBERON:0001103 UBERON:0001103 diaphragm UBERON:0001103 UBERON:0001130 UBERON:0001130 vertebral column UBERON:0001130 UBERON:0001132 UBERON:0001132 parathyroid gland UBERON:0001132 UBERON:0001133 UBERON:0001133 cardiac muscle tissue UBERON:0001133 UBERON:0001134 UBERON:0001134 skeletal muscle tissue UBERON:0001134 UBERON:0001135 UBERON:0001135 smooth muscle tissue UBERON:0001135 UBERON:0001136 UBERON:0001136 mesothelium UBERON:0001136 UBERON:0001153 UBERON:0001153 caecum UBERON:0001153 UBERON:0001154 UBERON:0001154 vermiform appendix UBERON:0001154 UBERON:0001155 UBERON:0001155 colon UBERON:0001155 UBERON:0001156 UBERON:0001156 ascending colon UBERON:0001156 UBERON:0001157 UBERON:0001157 transverse colon UBERON:0001157 UBERON:0001158 UBERON:0001158 descending colon UBERON:0001158 UBERON:0001159 UBERON:0001159 sigmoid colon UBERON:0001159 UBERON:0001160 UBERON:0001160 fundus of stomach UBERON:0001160 UBERON:0001161 UBERON:0001161 body of stomach UBERON:0001161 UBERON:0001162 UBERON:0001162 cardia of stomach UBERON:0001162 UBERON:0001165 UBERON:0001165 pyloric antrum UBERON:0001165 UBERON:0001166 UBERON:0001166 pylorus UBERON:0001166 UBERON:0001173 UBERON:0001173 biliary tree UBERON:0001173 UBERON:0001174 UBERON:0001174 common bile duct UBERON:0001174 UBERON:0001179 UBERON:0001179 peritoneal cavity UBERON:0001179 UBERON:0001182 UBERON:0001182 superior mesenteric artery UBERON:0001182 UBERON:0001184 UBERON:0001184 renal artery UBERON:0001184 UBERON:0001194 UBERON:0001194 splenic artery UBERON:0001194 UBERON:0001224 UBERON:0001224 renal pelvis UBERON:0001224 UBERON:0001232 UBERON:0001232 collecting duct of renal tubule UBERON:0001232 UBERON:0001235 UBERON:0001235 adrenal cortex UBERON:0001235 UBERON:0001236 UBERON:0001236 adrenal medulla UBERON:0001236 UBERON:0001245 UBERON:0001245 anus UBERON:0001245 UBERON:0001255 UBERON:0001255 urinary bladder UBERON:0001255 UBERON:0001257 UBERON:0001257 trigone of urinary bladder UBERON:0001257 UBERON:0001258 UBERON:0001258 neck of urinary bladder UBERON:0001258 UBERON:0001264 UBERON:0001264 pancreas UBERON:0001264 UBERON:0001267 UBERON:0001267 femoral nerve UBERON:0001267 UBERON:0001270 UBERON:0001270 bony pelvis UBERON:0001270 UBERON:0001295 UBERON:0001295 endometrium UBERON:0001295 UBERON:0001296 UBERON:0001296 myometrium UBERON:0001296 UBERON:0001297 serosa of uterus UBERON:0001297 UBERON:0001299 UBERON:0001299 glans penis UBERON:0001299 UBERON:0001300 UBERON:0001300 scrotum UBERON:0001300 UBERON:0001301 UBERON:0001301 epididymis UBERON:0001301 UBERON:0001322 UBERON:0001322 sciatic nerve UBERON:0001322 UBERON:0001323 UBERON:0001323 tibial nerve UBERON:0001323 UBERON:0001352 UBERON:0001352 external acoustic meatus UBERON:0001352 UBERON:0001361 UBERON:0001361 femoral vein UBERON:0001361 UBERON:0001365 UBERON:0001365 sacro-iliac joint UBERON:0001365 UBERON:0001366 parietal peritoneum UBERON:0001366 UBERON:0001383 UBERON:0001383 muscle of leg UBERON:0001383 UBERON:0001385 UBERON:0001385 tibialis anterior UBERON:0001385 UBERON:0001415 skin of pelvis UBERON:0001415 UBERON:0001423 UBERON:0001423 radius bone UBERON:0001423 UBERON:0001437 UBERON:0001437 epiphysis UBERON:0001437 UBERON:0001438 UBERON:0001438 metaphysis UBERON:0001438 UBERON:0001444 subdivision of head UBERON:0001444 UBERON:0001456 UBERON:0001456 face UBERON:0001456 UBERON:0001463 UBERON:0001463 thumb UBERON:0001463 UBERON:0001464 UBERON:0001464 hip UBERON:0001464 UBERON:0001465 UBERON:0001465 knee UBERON:0001465 UBERON:0001466 UBERON:0001466 toe UBERON:0001466 UBERON:0001474 UBERON:0001474 bone element UBERON:0001474 UBERON:0001479 sesamoid bone UBERON:0001479 UBERON:0001533 UBERON:0001533 subclavian artery UBERON:0001533 UBERON:0001535 UBERON:0001535 vertebral artery UBERON:0001535 UBERON:0001556 UBERON:0001556 lower urinary tract UBERON:0001556 UBERON:0001557 UBERON:0001557 upper respiratory tract UBERON:0001557 UBERON:0001558 UBERON:0001558 lower respiratory tract UBERON:0001558 UBERON:0001560 neck of organ UBERON:0001560 UBERON:0001579 UBERON:0001579 olfactory nerve UBERON:0001579 UBERON:0001585 UBERON:0001585 anterior vena cava UBERON:0001585 UBERON:0001601 UBERON:0001601 extra-ocular muscle UBERON:0001601 UBERON:0001620 UBERON:0001620 central retinal artery UBERON:0001620 UBERON:0001621 UBERON:0001621 coronary artery UBERON:0001621 UBERON:0001629 UBERON:0001629 carotid body UBERON:0001629 UBERON:0001630 UBERON:0001630 muscle organ UBERON:0001630 UBERON:0001633 UBERON:0001633 basilar artery UBERON:0001633 UBERON:0001637 UBERON:0001637 artery UBERON:0001637 UBERON:0001638 UBERON:0001638 vein UBERON:0001638 UBERON:0001643 UBERON:0001643 oculomotor nerve UBERON:0001643 UBERON:0001644 UBERON:0001644 trochlear nerve UBERON:0001644 UBERON:0001645 UBERON:0001645 trigeminal nerve UBERON:0001645 UBERON:0001646 UBERON:0001646 abducens nerve UBERON:0001646 UBERON:0001647 UBERON:0001647 facial nerve UBERON:0001647 UBERON:0001648 UBERON:0001648 vestibulocochlear nerve UBERON:0001648 UBERON:0001649 UBERON:0001649 glossopharyngeal nerve UBERON:0001649 UBERON:0001650 UBERON:0001650 hypoglossal nerve UBERON:0001650 UBERON:0001673 UBERON:0001673 central retinal vein UBERON:0001673 UBERON:0001675 UBERON:0001675 trigeminal ganglion UBERON:0001675 UBERON:0001677 sphenoid bone UBERON:0001677 UBERON:0001684 UBERON:0001684 mandible UBERON:0001684 UBERON:0001690 ear UBERON:0001690 UBERON:0001691 UBERON:0001691 external ear UBERON:0001691 UBERON:0001702 UBERON:0001702 eyelash UBERON:0001702 UBERON:0001705 UBERON:0001705 nail UBERON:0001705 UBERON:0001707 UBERON:0001707 nasal cavity UBERON:0001707 UBERON:0001708 UBERON:0001708 jaw skeleton UBERON:0001708 UBERON:0001711 UBERON:0001711 eyelid UBERON:0001711 UBERON:0001714 cranial ganglion UBERON:0001714 UBERON:0001723 UBERON:0001723 tongue UBERON:0001723 UBERON:0001724 UBERON:0001724 sphenoidal sinus UBERON:0001724 UBERON:0001728 UBERON:0001728 nasopharynx UBERON:0001728 UBERON:0001729 UBERON:0001729 oropharynx UBERON:0001729 UBERON:0001732 UBERON:0001732 pharyngeal tonsil UBERON:0001732 UBERON:0001733 UBERON:0001733 soft palate UBERON:0001733 UBERON:0001734 UBERON:0001734 palatine uvula UBERON:0001734 UBERON:0001735 UBERON:0001735 tonsillar ring UBERON:0001735 UBERON:0001736 UBERON:0001736 submandibular gland UBERON:0001736 UBERON:0001737 UBERON:0001737 larynx UBERON:0001737 UBERON:0001739 UBERON:0001739 laryngeal cartilage UBERON:0001739 UBERON:0001744 UBERON:0001744 lymphoid tissue UBERON:0001744 UBERON:0001750 UBERON:0001750 lacrimal apparatus UBERON:0001750 UBERON:0001754 UBERON:0001754 dental pulp UBERON:0001754 UBERON:0001756 UBERON:0001756 middle ear UBERON:0001756 UBERON:0001757 UBERON:0001757 pinna UBERON:0001757 UBERON:0001759 UBERON:0001759 vagus nerve UBERON:0001759 UBERON:0001760 UBERON:0001760 frontal sinus UBERON:0001760 UBERON:0001764 UBERON:0001764 maxillary sinus UBERON:0001764 UBERON:0001765 mammary duct UBERON:0001765 UBERON:0001768 UBERON:0001768 uvea UBERON:0001768 UBERON:0001769 UBERON:0001769 iris UBERON:0001769 UBERON:0001771 UBERON:0001771 pupil UBERON:0001771 UBERON:0001774 skeletal muscle of trunk UBERON:0001774 UBERON:0001775 UBERON:0001775 ciliary body UBERON:0001775 UBERON:0001776 UBERON:0001776 optic choroid UBERON:0001776 UBERON:0001785 UBERON:0001785 cranial nerve UBERON:0001785 UBERON:0001797 UBERON:0001797 vitreous humor UBERON:0001797 UBERON:0001800 sensory ganglion UBERON:0001800 UBERON:0001810 nerve plexus UBERON:0001810 UBERON:0001811 UBERON:0001811 conjunctiva UBERON:0001811 UBERON:0001813 spinal nerve plexus UBERON:0001813 UBERON:0001814 UBERON:0001814 brachial nerve plexus UBERON:0001814 UBERON:0001817 UBERON:0001817 lacrimal gland UBERON:0001817 UBERON:0001820 UBERON:0001820 sweat gland UBERON:0001820 UBERON:0001821 UBERON:0001821 sebaceous gland UBERON:0001821 UBERON:0001825 UBERON:0001825 paranasal sinus UBERON:0001825 UBERON:0001826 nasal cavity mucosa UBERON:0001826 UBERON:0001828 UBERON:0001828 gingiva UBERON:0001828 UBERON:0001829 major salivary gland UBERON:0001829 UBERON:0001831 UBERON:0001831 parotid gland UBERON:0001831 UBERON:0001832 UBERON:0001832 sublingual gland UBERON:0001832 UBERON:0001833 UBERON:0001833 lip UBERON:0001833 UBERON:0001834 UBERON:0001834 upper lip UBERON:0001834 UBERON:0001835 UBERON:0001835 lower lip UBERON:0001835 UBERON:0001846 UBERON:0001846 internal ear UBERON:0001846 UBERON:0001851 UBERON:0001851 cortex UBERON:0001851 UBERON:0001862 UBERON:0001862 vestibular labyrinth UBERON:0001862 UBERON:0001869 UBERON:0001869 cerebral hemisphere UBERON:0001869 UBERON:0001871 UBERON:0001871 temporal lobe UBERON:0001871 UBERON:0001872 UBERON:0001872 parietal lobe UBERON:0001872 UBERON:0001886 UBERON:0001886 choroid plexus UBERON:0001886 UBERON:0001893 UBERON:0001893 cerebrum UBERON:0001893 UBERON:0001894 UBERON:0001894 diencephalon UBERON:0001894 UBERON:0001898 UBERON:0001898 hypothalamus UBERON:0001898 UBERON:0001905 UBERON:0001905 pineal body UBERON:0001905 UBERON:0001908 UBERON:0001908 optic tract UBERON:0001908 UBERON:0001961 mucosa-associated lymphoid tissue UBERON:0001961 UBERON:0001962 gut-associated lymphoid tissue UBERON:0001962 UBERON:0001981 UBERON:0001981 blood vessel UBERON:0001981 UBERON:0001982 UBERON:0001982 capillary UBERON:0001982 UBERON:0001987 UBERON:0001987 placenta UBERON:0001987 UBERON:0001994 UBERON:0001994 hyaline cartilage tissue UBERON:0001994 UBERON:0002001 joint of rib UBERON:0002001 UBERON:0002012 UBERON:0002012 pulmonary artery UBERON:0002012 UBERON:0002016 UBERON:0002016 pulmonary vein UBERON:0002016 UBERON:0002017 UBERON:0002017 portal vein UBERON:0002017 UBERON:0002019 UBERON:0002019 accessory XI nerve UBERON:0002019 UBERON:0002020 gray matter UBERON:0002020 UBERON:0002021 UBERON:0002021 occipital lobe UBERON:0002021 UBERON:0002027 UBERON:0002027 stratum corneum of epidermis UBERON:0002027 UBERON:0002030 UBERON:0002030 nipple UBERON:0002030 UBERON:0002036 striated muscle tissue UBERON:0002036 UBERON:0002037 UBERON:0002037 cerebellum UBERON:0002037 UBERON:0002046 UBERON:0002046 thyroid gland UBERON:0002046 UBERON:0002048 UBERON:0002048 lung UBERON:0002048 UBERON:0002049 vasculature UBERON:0002049 UBERON:0002050 embryonic structure UBERON:0002050 UBERON:0002067 UBERON:0002067 dermis UBERON:0002067 UBERON:0002068 UBERON:0002068 urachus UBERON:0002068 UBERON:0002072 UBERON:0002072 hypodermis UBERON:0002072 UBERON:0002075 UBERON:0002075 viscus UBERON:0002075 UBERON:0002076 UBERON:0002076 cuticle of hair UBERON:0002076 UBERON:0002085 UBERON:0002085 interatrial septum UBERON:0002085 UBERON:0002094 UBERON:0002094 interventricular septum UBERON:0002094 UBERON:0002095 mesentery UBERON:0002095 UBERON:0002097 UBERON:0002097 skin of body UBERON:0002097 UBERON:0002099 UBERON:0002099 cardiac septum UBERON:0002099 UBERON:0002101 UBERON:0002101 limb UBERON:0002101 UBERON:0002106 UBERON:0002106 spleen UBERON:0002106 UBERON:0002107 UBERON:0002107 liver UBERON:0002107 UBERON:0002108 UBERON:0002108 small intestine UBERON:0002108 UBERON:0002110 UBERON:0002110 gallbladder UBERON:0002110 UBERON:0002113 UBERON:0002113 kidney UBERON:0002113 UBERON:0002114 UBERON:0002114 duodenum UBERON:0002114 UBERON:0002115 UBERON:0002115 jejunum UBERON:0002115 UBERON:0002116 UBERON:0002116 ileum UBERON:0002116 UBERON:0002133 atrioventricular valve UBERON:0002133 UBERON:0002134 UBERON:0002134 tricuspid valve UBERON:0002134 UBERON:0002135 UBERON:0002135 mitral valve UBERON:0002135 UBERON:0002137 UBERON:0002137 aortic valve UBERON:0002137 UBERON:0002146 UBERON:0002146 pulmonary valve UBERON:0002146 UBERON:0002165 UBERON:0002165 endocardium UBERON:0002165 UBERON:0002182 UBERON:0002182 main bronchus UBERON:0002182 UBERON:0002185 UBERON:0002185 bronchus UBERON:0002185 UBERON:0002186 UBERON:0002186 bronchiole UBERON:0002186 UBERON:0002198 UBERON:0002198 neurohypophysis UBERON:0002198 UBERON:0002200 vasculature of head UBERON:0002200 UBERON:0002203 vasculature of eye UBERON:0002203 UBERON:0002204 UBERON:0002204 musculoskeletal system UBERON:0002204 UBERON:0002209 fibrous joint UBERON:0002209 UBERON:0002211 nerve root UBERON:0002211 UBERON:0002213 cartilaginous joint UBERON:0002213 UBERON:0002215 synchondrosis UBERON:0002215 UBERON:0002217 synovial joint UBERON:0002217 UBERON:0002224 thoracic cavity UBERON:0002224 UBERON:0002228 UBERON:0002228 rib UBERON:0002228 UBERON:0002240 UBERON:0002240 spinal cord UBERON:0002240 UBERON:0002257 UBERON:0002257 ventral horn of spinal cord UBERON:0002257 UBERON:0002268 olfactory organ UBERON:0002268 UBERON:0002279 UBERON:0002279 vestibular aqueduct UBERON:0002279 UBERON:0002285 UBERON:0002285 telencephalic ventricle UBERON:0002285 UBERON:0002286 UBERON:0002286 third ventricle UBERON:0002286 UBERON:0002293 UBERON:0002293 costochondral joint UBERON:0002293 UBERON:0002298 UBERON:0002298 brainstem UBERON:0002298 UBERON:0002299 UBERON:0002299 alveolus of lung UBERON:0002299 UBERON:0002330 UBERON:0002330 exocrine system UBERON:0002330 UBERON:0002336 UBERON:0002336 corpus callosum UBERON:0002336 UBERON:0002348 UBERON:0002348 epicardium UBERON:0002348 UBERON:0002349 UBERON:0002349 myocardium UBERON:0002349 UBERON:0002351 UBERON:0002351 sinoatrial node UBERON:0002351 UBERON:0002356 UBERON:0002356 perineum UBERON:0002356 UBERON:0002358 UBERON:0002358 peritoneum UBERON:0002358 UBERON:0002360 UBERON:0002360 meninx UBERON:0002360 UBERON:0002364 UBERON:0002364 tympanic membrane UBERON:0002364 UBERON:0002365 exocrine gland UBERON:0002365 UBERON:0002367 UBERON:0002367 prostate gland UBERON:0002367 UBERON:0002368 UBERON:0002368 endocrine gland UBERON:0002368 UBERON:0002369 UBERON:0002369 adrenal gland UBERON:0002369 UBERON:0002370 UBERON:0002370 thymus UBERON:0002370 UBERON:0002371 UBERON:0002371 bone marrow UBERON:0002371 UBERON:0002372 UBERON:0002372 tonsil UBERON:0002372 UBERON:0002384 UBERON:0002384 connective tissue UBERON:0002384 UBERON:0002385 UBERON:0002385 muscle tissue UBERON:0002385 UBERON:0002387 UBERON:0002387 foot UBERON:0002387 UBERON:0002389 UBERON:0002389 finger UBERON:0002389 UBERON:0002390 UBERON:0002390 hematopoietic system UBERON:0002390 UBERON:0002391 UBERON:0002391 lymph UBERON:0002391 UBERON:0002394 UBERON:0002394 bile duct UBERON:0002394 UBERON:0002398 UBERON:0002398 hand UBERON:0002398 UBERON:0002402 UBERON:0002402 pleural cavity UBERON:0002402 UBERON:0002405 UBERON:0002405 immune system UBERON:0002405 UBERON:0002407 UBERON:0002407 pericardium UBERON:0002407 UBERON:0002410 UBERON:0002410 autonomic nervous system UBERON:0002410 UBERON:0002411 UBERON:0002411 clitoris UBERON:0002411 UBERON:0002416 UBERON:0002416 integumental system UBERON:0002416 UBERON:0002418 UBERON:0002418 cartilage tissue UBERON:0002418 UBERON:0002419 skin gland UBERON:0002419 UBERON:0002420 basal ganglion UBERON:0002420 UBERON:0002423 UBERON:0002423 hepatobiliary system UBERON:0002423 UBERON:0002428 limb bone UBERON:0002428 UBERON:0002434 UBERON:0002434 pituitary stalk UBERON:0002434 UBERON:0002446 UBERON:0002446 patella UBERON:0002446 UBERON:0002453 UBERON:0002453 ethmoid sinus UBERON:0002453 UBERON:0002458 spinal artery UBERON:0002458 UBERON:0002470 autopod region UBERON:0002470 UBERON:0002473 intercerebral commissure UBERON:0002473 UBERON:0002481 bone tissue UBERON:0002481 UBERON:0002486 UBERON:0002486 glottis UBERON:0002486 UBERON:0002491 UBERON:0002491 lambdoid suture UBERON:0002491 UBERON:0002495 UBERON:0002495 long bone UBERON:0002495 UBERON:0002513 endochondral bone UBERON:0002513 UBERON:0002514 intramembranous bone UBERON:0002514 UBERON:0002523 tunica intima UBERON:0002523 UBERON:0002529 limb segment UBERON:0002529 UBERON:0002530 UBERON:0002530 gland UBERON:0002530 UBERON:0002544 digit UBERON:0002544 UBERON:0002553 anatomical cavity UBERON:0002553 UBERON:0002616 regional part of brain UBERON:0002616 UBERON:0002749 regional part of cerebellar cortex UBERON:0002749 UBERON:0002772 UBERON:0002772 olfactory sulcus UBERON:0002772 UBERON:0003037 septum UBERON:0003037 UBERON:0003074 UBERON:0003074 mesonephric duct UBERON:0003074 UBERON:0003102 surface structure UBERON:0003102 UBERON:0003103 compound organ UBERON:0003103 UBERON:0003126 UBERON:0003126 trachea UBERON:0003126 UBERON:0003129 UBERON:0003129 skull UBERON:0003129 UBERON:0003133 reproductive organ UBERON:0003133 UBERON:0003134 female reproductive organ UBERON:0003134 UBERON:0003135 male reproductive organ UBERON:0003135 UBERON:0003215 alveolus UBERON:0003215 UBERON:0003216 UBERON:0003216 hard palate UBERON:0003216 UBERON:0003221 UBERON:0003221 phalanx UBERON:0003221 UBERON:0003244 epithelium of mammary gland UBERON:0003244 UBERON:0003258 endoderm of foregut UBERON:0003258 UBERON:0003292 UBERON:0003292 meninx of spinal cord UBERON:0003292 UBERON:0003296 gland of diencephalon UBERON:0003296 UBERON:0003297 gland of integumental system UBERON:0003297 UBERON:0003379 cardiac muscle of right atrium UBERON:0003379 UBERON:0003406 cartilage of respiratory system UBERON:0003406 UBERON:0003408 gland of digestive tract UBERON:0003408 UBERON:0003431 leg nerve UBERON:0003431 UBERON:0003440 limb nerve UBERON:0003440 UBERON:0003442 hindlimb nerve UBERON:0003442 UBERON:0003457 head bone UBERON:0003457 UBERON:0003460 arm bone UBERON:0003460 UBERON:0003461 shoulder bone UBERON:0003461 UBERON:0003462 UBERON:0003462 facial bone UBERON:0003462 UBERON:0003464 hindlimb bone UBERON:0003464 UBERON:0003466 forelimb zeugopod bone UBERON:0003466 UBERON:0003469 respiratory system artery UBERON:0003469 UBERON:0003479 thoracic cavity vein UBERON:0003479 UBERON:0003496 head blood vessel UBERON:0003496 UBERON:0003498 heart blood vessel UBERON:0003498 UBERON:0003501 retina blood vessel UBERON:0003501 UBERON:0003504 respiratory system blood vessel UBERON:0003504 UBERON:0003509 arterial blood vessel UBERON:0003509 UBERON:0003513 trunk blood vessel UBERON:0003513 UBERON:0003514 limb blood vessel UBERON:0003514 UBERON:0003516 hindlimb blood vessel UBERON:0003516 UBERON:0003519 thoracic cavity blood vessel UBERON:0003519 UBERON:0003528 brain gray matter UBERON:0003528 UBERON:0003570 respiratory system connective tissue UBERON:0003570 UBERON:0003580 lower respiratory tract connective tissue UBERON:0003580 UBERON:0003586 trunk connective tissue UBERON:0003586 UBERON:0003606 UBERON:0003606 limb long bone UBERON:0003606 UBERON:0003607 forelimb long bone UBERON:0003607 UBERON:0003608 hindlimb long bone UBERON:0003608 UBERON:0003631 UBERON:0003631 big toe UBERON:0003631 UBERON:0003643 respiratory system arterial blood vessel UBERON:0003643 UBERON:0003661 limb muscle UBERON:0003661 UBERON:0003663 hindlimb muscle UBERON:0003663 UBERON:0003679 UBERON:0003679 mouth floor UBERON:0003679 UBERON:0003685 cranial suture UBERON:0003685 UBERON:0003687 UBERON:0003687 foramen magnum UBERON:0003687 UBERON:0003691 UBERON:0003691 epidural space UBERON:0003691 UBERON:0003693 UBERON:0003693 retroperitoneal space UBERON:0003693 UBERON:0003703 UBERON:0003703 extrahepatic bile duct UBERON:0003703 UBERON:0003704 UBERON:0003704 intrahepatic bile duct UBERON:0003704 UBERON:0003712 UBERON:0003712 cavernous sinus UBERON:0003712 UBERON:0003720 UBERON:0003720 anterior cranial fossa UBERON:0003720 UBERON:0003722 UBERON:0003722 middle cranial fossa UBERON:0003722 UBERON:0003728 UBERON:0003728 mediastinum UBERON:0003728 UBERON:0003729 mouth mucosa UBERON:0003729 UBERON:0003826 upper leg bone UBERON:0003826 UBERON:0003830 thoracic segment muscle UBERON:0003830 UBERON:0003831 respiratory system muscle UBERON:0003831 UBERON:0003834 thoracic segment blood vessel UBERON:0003834 UBERON:0003836 abdominal segment skin UBERON:0003836 UBERON:0003837 thoracic segment connective tissue UBERON:0003837 UBERON:0003843 UBERON:0003843 dental epithelium UBERON:0003843 UBERON:0003885 mesometrium UBERON:0003885 UBERON:0003889 UBERON:0003889 fallopian tube UBERON:0003889 UBERON:0003913 tooth-like structure UBERON:0003913 UBERON:0003914 epithelial tube UBERON:0003914 UBERON:0003920 venous blood vessel UBERON:0003920 UBERON:0003928 digestive system duct UBERON:0003928 UBERON:0003929 digestive tract epithelium UBERON:0003929 UBERON:0003933 cranial cartilage UBERON:0003933 UBERON:0003937 reproductive gland UBERON:0003937 UBERON:0003947 brain ventricle/choroid plexus UBERON:0003947 UBERON:0003959 UBERON:0003959 rete testis UBERON:0003959 UBERON:0003978 valve UBERON:0003978 UBERON:0004014 UBERON:0004014 labium minora UBERON:0004014 UBERON:0004084 genital labium UBERON:0004084 UBERON:0004085 UBERON:0004085 labium majora UBERON:0004085 UBERON:0004086 UBERON:0004086 brain ventricle UBERON:0004086 UBERON:0004087 vena cava UBERON:0004087 UBERON:0004088 UBERON:0004088 orbital region UBERON:0004088 UBERON:0004108 UBERON:0004108 clivus of occipital bone UBERON:0004108 UBERON:0004111 anatomical conduit UBERON:0004111 UBERON:0004117 pharyngeal pouch UBERON:0004117 UBERON:0004119 endoderm-derived structure UBERON:0004119 UBERON:0004120 mesoderm-derived structure UBERON:0004120 UBERON:0004121 ectoderm-derived structure UBERON:0004121 UBERON:0004122 UBERON:0004122 genitourinary system UBERON:0004122 UBERON:0004177 hemopoietic organ UBERON:0004177 UBERON:0004247 bone of dorsum UBERON:0004247 UBERON:0004250 upper arm bone UBERON:0004250 UBERON:0004251 hindlimb zeugopod bone UBERON:0004251 UBERON:0004256 hindlimb zeugopod muscle UBERON:0004256 UBERON:0004277 eye muscle UBERON:0004277 UBERON:0004363 UBERON:0004363 pharyngeal arch artery UBERON:0004363 UBERON:0004375 bone of free limb or fin UBERON:0004375 UBERON:0004376 fin bone UBERON:0004376 UBERON:0004449 UBERON:0004449 cerebral artery UBERON:0004449 UBERON:0004490 cardiac muscle tissue of atrium UBERON:0004490 UBERON:0004493 cardiac muscle tissue of myocardium UBERON:0004493 UBERON:0004529 anatomical projection UBERON:0004529 UBERON:0004535 UBERON:0004535 cardiovascular system UBERON:0004535 UBERON:0004573 systemic artery UBERON:0004573 UBERON:0004670 UBERON:0004670 ependyma UBERON:0004670 UBERON:0004681 UBERON:0004681 vestibular system UBERON:0004681 UBERON:0004704 bone fossa UBERON:0004704 UBERON:0004708 paired limb/fin UBERON:0004708 UBERON:0004720 UBERON:0004720 cerebellar vermis UBERON:0004720 UBERON:0004742 dentary UBERON:0004742 UBERON:0004755 skeletal tissue UBERON:0004755 UBERON:0004756 dermal skeletal element UBERON:0004756 UBERON:0004765 skeletal element UBERON:0004765 UBERON:0004766 UBERON:0004766 cranial bone UBERON:0004766 UBERON:0004768 bone of lower jaw UBERON:0004768 UBERON:0004785 respiratory system mucosa UBERON:0004785 UBERON:0004819 kidney epithelium UBERON:0004819 UBERON:0004859 eye gland UBERON:0004859 UBERON:0004867 UBERON:0004867 orbital cavity UBERON:0004867 UBERON:0004885 hilum UBERON:0004885 UBERON:0004886 UBERON:0004886 lung hilus UBERON:0004886 UBERON:0004904 UBERON:0004904 neuron projection bundle connecting eye with brain UBERON:0004904 UBERON:0004905 UBERON:0004905 articulation UBERON:0004905 UBERON:0004913 UBERON:0004913 hepatopancreatic ampulla UBERON:0004913 UBERON:0004921 subdivision of digestive tract UBERON:0004921 UBERON:0004923 organ component layer UBERON:0004923 UBERON:0004983 mucosa of vagina UBERON:0004983 UBERON:0005055 zone of long bone UBERON:0005055 UBERON:0005057 UBERON:0005057 immune organ UBERON:0005057 UBERON:0005058 hemolymphoid system gland UBERON:0005058 UBERON:0005090 muscle structure UBERON:0005090 UBERON:0005103 mesonephric epithelium UBERON:0005103 UBERON:0005156 UBERON:0005156 reproductive structure UBERON:0005156 UBERON:0005162 multi cell part structure UBERON:0005162 UBERON:0005172 abdomen element UBERON:0005172 UBERON:0005173 abdominal segment element UBERON:0005173 UBERON:0005174 dorsal region element UBERON:0005174 UBERON:0005177 trunk region element UBERON:0005177 UBERON:0005178 thoracic cavity element UBERON:0005178 UBERON:0005179 pelvic region element UBERON:0005179 UBERON:0005181 thoracic segment organ UBERON:0005181 UBERON:0005208 right atrium valve UBERON:0005208 UBERON:0005291 embryonic tissue UBERON:0005291 UBERON:0005340 dorsal telencephalic commissure UBERON:0005340 UBERON:0005352 UBERON:0005352 spermatic cord UBERON:0005352 UBERON:0005358 ventricle of nervous system UBERON:0005358 UBERON:0005388 photoreceptor array UBERON:0005388 UBERON:0005389 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UBERON:0005911 endo-epithelium UBERON:0005911 UBERON:0005913 zone of bone organ UBERON:0005913 UBERON:0005970 brain commissure UBERON:0005970 UBERON:0005983 heart layer UBERON:0005983 UBERON:0005985 coronary vessel UBERON:0005985 UBERON:0005989 UBERON:0005989 atrioventricular septum UBERON:0005989 UBERON:0006003 integumentary adnexa UBERON:0006003 UBERON:0006048 digit 1 UBERON:0006048 UBERON:0006052 UBERON:0006052 digit 5 UBERON:0006052 UBERON:0006058 multi-limb segment region UBERON:0006058 UBERON:0006059 UBERON:0006059 falx cerebri UBERON:0006059 UBERON:0006312 ocular refractive media UBERON:0006312 UBERON:0006314 bodily fluid UBERON:0006314 UBERON:0006553 renal duct UBERON:0006553 UBERON:0006555 excretory tube UBERON:0006555 UBERON:0006558 lymphatic part of lymphoid system UBERON:0006558 UBERON:0006562 UBERON:0006562 pharynx UBERON:0006562 UBERON:0006589 UBERON:0006589 round ligament of uterus UBERON:0006589 UBERON:0006598 presumptive structure UBERON:0006598 UBERON:0006615 venous 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UBERON:0007616 layer of synovial tissue UBERON:0007616 UBERON:0007650 UBERON:0007650 esophagogastric junction UBERON:0007650 UBERON:0007651 anatomical junction UBERON:0007651 UBERON:0007702 tract of brain UBERON:0007702 UBERON:0007771 epidermis gland UBERON:0007771 UBERON:0007798 UBERON:0007798 vascular system UBERON:0007798 UBERON:0007842 membrane bone UBERON:0007842 UBERON:0007844 cartilage element UBERON:0007844 UBERON:0007914 bone of craniocervical region UBERON:0007914 UBERON:0008114 joint of girdle UBERON:0008114 UBERON:0008193 pneumatized bone UBERON:0008193 UBERON:0008202 bone of hip region UBERON:0008202 UBERON:0008230 UBERON:0008230 tibialis UBERON:0008230 UBERON:0008337 UBERON:0008337 inguinal part of abdomen UBERON:0008337 UBERON:0008784 lower limb segment UBERON:0008784 UBERON:0008785 upper limb segment UBERON:0008785 UBERON:0008788 UBERON:0008788 posterior cranial fossa UBERON:0008788 UBERON:0008789 cranial fossa UBERON:0008789 UBERON:0008811 intromittent organ UBERON:0008811 UBERON:0008822 UBERON:0008822 posterior mediastinum UBERON:0008822 UBERON:0008845 nonskeletal ligament UBERON:0008845 UBERON:0008846 skeletal ligament UBERON:0008846 UBERON:0008883 osteoid UBERON:0008883 UBERON:0008907 dermal bone UBERON:0008907 UBERON:0008962 forelimb bone UBERON:0008962 UBERON:0008974 apocrine gland UBERON:0008974 UBERON:0009141 craniocervical region vein UBERON:0009141 UBERON:0009198 craniofacial suture UBERON:0009198 UBERON:0009201 nephric duct UBERON:0009201 UBERON:0009564 distal limb integumentary appendage UBERON:0009564 UBERON:0009569 subdivision of trunk UBERON:0009569 UBERON:0009623 UBERON:0009623 spinal nerve root UBERON:0009623 UBERON:0009842 glandular acinus UBERON:0009842 UBERON:0009853 UBERON:0009853 body of uterus UBERON:0009853 UBERON:0009854 digestive tract diverticulum UBERON:0009854 UBERON:0009856 sac UBERON:0009856 UBERON:0009870 zone of stomach UBERON:0009870 UBERON:0010000 multicellular anatomical structure UBERON:0010000 UBERON:0010001 cell cluster organ UBERON:0010001 UBERON:0010009 aggregate regional part of brain UBERON:0010009 UBERON:0010011 UBERON:0010011 collection of basal ganglia UBERON:0010011 UBERON:0010039 food storage organ UBERON:0010039 UBERON:0010047 oral gland UBERON:0010047 UBERON:0010131 conducting tissue of heart UBERON:0010131 UBERON:0010133 neuroendocrine gland UBERON:0010133 UBERON:0010134 secretory circumventricular organ UBERON:0010134 UBERON:0010145 UBERON:0010145 paraurethral gland UBERON:0010145 UBERON:0010147 male accessory sex gland UBERON:0010147 UBERON:0010163 UBERON:0010163 eyebrow UBERON:0010163 UBERON:0010164 collection of hairs UBERON:0010164 UBERON:0010165 collection of hair on face UBERON:0010165 UBERON:0010167 beard UBERON:0010167 UBERON:0010185 UBERON:0010185 rete ovarii UBERON:0010185 UBERON:0010230 eyeball of camera-type eye UBERON:0010230 UBERON:0010243 merocrine gland UBERON:0010243 UBERON:0010276 space in vertebral column UBERON:0010276 UBERON:0010313 neural crest-derived structure UBERON:0010313 UBERON:0010314 structure with developmental contribution from neural crest UBERON:0010314 UBERON:0010316 germ layer / neural crest UBERON:0010316 UBERON:0010363 endochondral element UBERON:0010363 UBERON:0010371 ecto-epithelium UBERON:0010371 UBERON:0010391 UBERON:0010391 parametrium UBERON:0010391 UBERON:0010418 urethral opening UBERON:0010418 UBERON:0010523 microcirculatory vessel UBERON:0010523 UBERON:0010538 paired limb/fin segment UBERON:0010538 UBERON:0010740 bone of appendage girdle complex UBERON:0010740 UBERON:0010741 bone of pectoral complex UBERON:0010741 UBERON:0010742 bone of pelvic complex UBERON:0010742 UBERON:0010743 UBERON:0010743 meningeal cluster UBERON:0010743 UBERON:0010758 subdivision of organism along appendicular axis UBERON:0010758 UBERON:0010890 pelvic complex muscle UBERON:0010890 UBERON:0010911 ossicle UBERON:0010911 UBERON:0010912 subdivision of skeleton UBERON:0010912 UBERON:0010959 craniocervical muscle UBERON:0010959 UBERON:0010996 UBERON:0010996 articular cartilage of joint UBERON:0010996 UBERON:0011004 pharyngeal arch cartilage UBERON:0011004 UBERON:0011107 synovial joint of pelvic girdle UBERON:0011107 UBERON:0011134 nonsynovial joint UBERON:0011134 UBERON:0011135 intervertebral cartilage UBERON:0011135 UBERON:0011136 UBERON:0011136 ligament of vertebral column UBERON:0011136 UBERON:0011141 appendicular ossicle UBERON:0011141 UBERON:0011215 central nervous system cell part cluster UBERON:0011215 UBERON:0011216 organ system subdivision UBERON:0011216 UBERON:0011250 autopod bone UBERON:0011250 UBERON:0011374 UBERON:0011374 prepuce UBERON:0011374 UBERON:0011591 tract of diencephalon UBERON:0011591 UBERON:0011676 subdivision of organism along main body axis UBERON:0011676 UBERON:0011779 nerve of head region UBERON:0011779 UBERON:0011818 UBERON:0011818 superficial fascia UBERON:0011818 UBERON:0011821 irregular connective tissue UBERON:0011821 UBERON:0011822 dense irregular connective tissue UBERON:0011822 UBERON:0011823 dense connective tissue UBERON:0011823 UBERON:0011825 loose connective tissue UBERON:0011825 UBERON:0011826 UBERON:0011826 vestibular gland UBERON:0011826 UBERON:0011859 internal acoustic meatus UBERON:0011859 UBERON:0012069 epithelium-associated lymphoid tissue UBERON:0012069 UBERON:0012102 buccal salivary gland UBERON:0012102 UBERON:0012177 skin apocrine gland UBERON:0012177 UBERON:0012254 abdominal aorta artery UBERON:0012254 UBERON:0012275 meso-epithelium UBERON:0012275 UBERON:0012303 UBERON:0012303 ureteral orifice UBERON:0012303 UBERON:0012330 nasal-associated lymphoid tissue UBERON:0012330 UBERON:0012332 UBERON:0012332 broad ligament of uterus UBERON:0012332 UBERON:0012336 UBERON:0012336 perianal skin UBERON:0012336 UBERON:0012337 UBERON:0012337 cauda equina UBERON:0012337 UBERON:0012344 holocrine gland UBERON:0012344 UBERON:0012357 digitopodium bone UBERON:0012357 UBERON:0012360 bone of jaw UBERON:0012360 UBERON:0013118 sulcus of brain UBERON:0013118 UBERON:0013140 systemic vein UBERON:0013140 UBERON:0013141 capillary bed UBERON:0013141 UBERON:0013411 UBERON:0013411 cranial cavity UBERON:0013411 UBERON:0013515 subdivision of oviduct UBERON:0013515 UBERON:0013522 subdivision of tube UBERON:0013522 UBERON:0013630 short bone UBERON:0013630 UBERON:0013631 sesamoid element UBERON:0013631 UBERON:0013685 foramen of skull UBERON:0013685 UBERON:0013703 integumentary projection UBERON:0013703 UBERON:0013754 integumentary system layer UBERON:0013754 UBERON:0013765 digestive system element UBERON:0013765 UBERON:0013768 great vessel of heart UBERON:0013768 UBERON:0014382 collection of hairs on head or neck UBERON:0014382 UBERON:0014385 UBERON:0014385 aryepiglottic fold UBERON:0014385 UBERON:0014795 pelvic appendage muscle UBERON:0014795 UBERON:0014892 skeletal muscle organ, vertebrate UBERON:0014892 UBERON:0014908 UBERON:0014908 cerebellopontine angle UBERON:0014908 UBERON:0014930 perivascular space UBERON:0014930 UBERON:0015001 radius endochondral element UBERON:0015001 UBERON:0015004 tibia endochondral element UBERON:0015004 UBERON:0015019 rib endochondral element UBERON:0015019 UBERON:0015021 forelimb endochondral element UBERON:0015021 UBERON:0015022 hindlimb endochondral element UBERON:0015022 UBERON:0015023 phalanx endochondral element UBERON:0015023 UBERON:0015052 femur endochondral element UBERON:0015052 UBERON:0015053 humerus endochondral element UBERON:0015053 UBERON:0015060 sphenoid endochondral element UBERON:0015060 UBERON:0015061 limb endochondral element UBERON:0015061 UBERON:0015063 autopod endochondral element UBERON:0015063 UBERON:0015152 gland of ocular region UBERON:0015152 UBERON:0015154 lateral gland of orbital region UBERON:0015154 UBERON:0015189 UBERON:0015189 perineural vascular plexus UBERON:0015189 UBERON:0015203 non-connected functional system UBERON:0015203 UBERON:0015204 glandular system UBERON:0015204 UBERON:0015212 lateral structure UBERON:0015212 UBERON:0015214 arcuate ligament UBERON:0015214 UBERON:0015215 UBERON:0015215 median arcuate ligament UBERON:0015215 UBERON:0015228 circulatory organ UBERON:0015228 UBERON:0015474 UBERON:0015474 axilla skin UBERON:0015474 UBERON:0015757 heterogeneous tissue UBERON:0015757 UBERON:0015833 foregut epithelium UBERON:0015833 UBERON:0016410 UBERON:0016410 male breast UBERON:0016410 UBERON:0016435 UBERON:0016435 chest wall UBERON:0016435 UBERON:0016446 UBERON:0016446 hair of head UBERON:0016446 UBERON:0016490 UBERON:0016490 auditory system UBERON:0016490 UBERON:0016525 UBERON:0016525 frontal lobe UBERON:0016525 UBERON:0016526 lobe of cerebral hemisphere UBERON:0016526 UBERON:0016548 central nervous system gray matter layer UBERON:0016548 UBERON:0016550 spinal cord column UBERON:0016550 UBERON:0016566 pit UBERON:0016566 UBERON:0017672 UBERON:0017672 abdominal viscera UBERON:0017672 UBERON:0018260 layer of muscle tissue UBERON:0018260 UBERON:0018321 foramen for glossopharyngeal nerve UBERON:0018321 UBERON:0018707 bladder organ 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junction UBERON:1100000 UBERON:2000364 hypural UBERON:2000364 UBERON:2001364 hemal spine UBERON:2001364 UBERON:2005036 supraintestinal artery UBERON:2005036 UBERON:3000701 UBERON:3000701 intervertebral space UBERON:3000701 UBERON:3000961 external integument structure UBERON:3000961 UBERON:8410021 UBERON:8410021 inguinal region skin UBERON:8410021 UBERON:8410081 blood microvessel UBERON:8410081 UBERON:8440011 cortical visual area UBERON:8440011 UBERON:8450002 excretory system UBERON:8450002 UBERON:8480025 skin of clavicle region UBERON:8480025 UBERON:8480029 skin of external genitalia UBERON:8480029 UBERON:8600004 visceral muscle tissue UBERON:8600004 UBERON:8600006 visceral striated muscle tissue UBERON:8600006 UPHENO:0001001 phenotype chebi sequence owl:Thing 2025-05-30 GENO:0000150 Has obsolescence reason. has_obsolescence_reason Has obsolescence reason. url:http://purl.obolibrary.org/obo/IAO_0000231 Relating the disease to it’s causation (disease and disorder). has material basis in Relating the disease to it’s causation (disease and disorder). url:http://purl.obolibrary.org/obo/IDO_0000664 derives from has allergic trigger has phenotype adjacent to transmitted by has symptom existence starts during contributes to condition disease has basis in disease has location disease has feature has disease driver The Disease Ontology has been developed as a standardized ontology for human disease with the purpose of providing the biomedical community with consistent, reusable and sustainable descriptions of human disease terms, phenotype characteristics and related medical vocabulary disease concepts. en Human Disease Ontology 30:05:2025 09:42 disease_ontology 1.2 lschriml The Disease Ontology content is available via the Creative Commons Public Domain Dedication CC0 1.0 Universal license (https://creativecommons.org/publicdomain/zero/1.0/). 2025-05-30 has symptoms Sourced from http://purl.obolibrary.org/obo/chebi/241/chebi.owl Sourced from http://purl.obolibrary.org/obo/cl/releases/2025-04-10/cl.owl Sourced from http://purl.obolibrary.org/obo/disdriv/releases/2025-03-20/disdriv.owl Sourced from http://purl.obolibrary.org/obo/eco/releases/2025-04-30/eco.owl Sourced from http://purl.obolibrary.org/obo/foodon/releases/2025-02-01/foodon.owl Sourced from http://purl.obolibrary.org/obo/geno/releases/2023-10-08/geno.owl Sourced from http://purl.obolibrary.org/obo/hp/releases/2025-05-06/hp.owl Sourced from http://purl.obolibrary.org/obo/ncbitaxon/2025-03-13/ncbitaxon.owl Sourced from http://purl.obolibrary.org/obo/ro/releases/2025-03-05/ro.owl Sourced from http://purl.obolibrary.org/obo/so/2024-11-18/so.owl Sourced from http://purl.obolibrary.org/obo/symp/releases/2024-05-17/symp.owl Sourced from http://purl.obolibrary.org/obo/trans/releases/2022-10-10/trans.owl Sourced from http://purl.obolibrary.org/obo/uberon/releases/2025-05-28/uberon.owl has_origin See also. rdfs:seeAlso See also. url:http://www.w3.org/2000/01/rdf-schema#seeAlso Backward compatible with. owl:backwardCompatibleWith Backward compatible with. url:http://www.w3.org/2002/07/owl#backwardCompatibleWith Incompatible with. owl:incompatibleWith Incompatible with. url:http://www.w3.org/2002/07/owl#incompatibleWith Prior version. owl:priorVersion Prior version. url:http://www.w3.org/2002/07/owl#priorVersion