The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions. The official definition. definition The official definition. url:http://purl.obolibrary.org/obo/iao.owl Use on obsolete terms, relating the term to another term that can be used as a substitute. term replaced by Use on obsolete terms, relating the term to another term that can be used as a substitute. url:https://www.ebi.ac.uk/ols/ontologies/iao/properties?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FIAO_0100001 An alternative term used by the IEDB. IEDB alternative term An alternative term used by the IEDB. url:https://www.iedb.org Author of the class. created_by Author of the class. url:http://www.geneontology.org/formats/oboInOwl#created_by Date class was created. creation_date Date class was created. url:http://www.geneontology.org/formats/oboInOwl#creation_date ID of merged class. has_alternative_id ID of merged class. url:http://www.geneontology.org/formats/oboInOwl#hasAlternativeId Broad synonym. has_broad_synonym Broad synonym. url:http://www.geneontology.org/formats/oboInOwl#hasBroadSynonym Exact synonym. has exact synonym has_exact_synonym Exact synonym. url:http://www.geneontology.org/formats/oboInOwl#hasExactSynonym Narrow synonym. has_narrow_synonym Narrow synonym. url:http://www.geneontology.org/formats/oboInOwl#hasNarrowSynonym Name space of the ontology. disease_ontology has_obo_namespace Name space of the ontology. url:http://www.geneontology.org/formats/oboInOwl#hasOBONamespace Has related synonym. has_related_synonym Has related synonym. url:http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym An identifier for an individual entity. An identifier is an information content entity that is the outcome of a dubbing process and is used to refer to one instance of entity shared by a group of people to refer to that individual entity. id An identifier for an individual entity. url:http://purl.obolibrary.org/obo/IAO_0020000 An identifier is an information content entity that is the outcome of a dubbing process and is used to refer to one instance of entity shared by a group of people to refer to that individual entity. url:http://purl.obolibrary.org/obo/IAO_0020000 In subset. in_subset In subset. url:http://www.geneontology.org/formats/oboInOwl#inSubset Comment. comment Comment. url:http://www.w3.org/2000/01/rdf-schema#comment A human readable name for this class. label label A human readable name for this class. url:http://www.w3.org/2000/01/rdf-schema#label A human readable name for this class. url:http://www.w3.org/2000/01/rdf-schema#label url:https://www.w3.org/TR/owl-guide/ OWL deprecated. owl:deprecated OWL deprecated. url:http://www.w3.org/2002/07/owl#deprecated A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is broad and the xref is narrow (represents subtypes). has broader match A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is broad and the xref is narrow (represents subtypes). url:https://www.w3.org/2009/08/skos-reference/skos.html#broadMatch A skos concept mapping used to link two concepts, indicating a high degree of confidence that the concepts can be used interchangeably. has exact match A skos concept mapping used to link two concepts, indicating a high degree of confidence that the concepts can be used interchangeably. url:https://www.w3.org/2009/08/skos-reference/skos.html#exactMatch A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is narrow (DO represents subtypes) and the xref is broad. has narrower match A skos concept mapping used to state a hierarchical mapping link between two concepts where the DO concept is narrow (DO represents subtypes) and the xref is broad. url:https://www.w3.org/2009/08/skos-reference/skos.html#narrowMatch CHEBI:102166 thiopental CHEBI:103210 hexahydrophthalic anhydride CHEBI:128458 disodium cromoglycate CHEBI:133004 bisbenzylisoquinoline alkaloid CHEBI:138412 N,N'-diphenylthiourea CHEBI:138675 gas molecular entity CHEBI:140310 phenyl acetates CHEBI:15365 acetylsalicylic acid CHEBI:15400 (-)-carvone CHEBI:15705 L-alpha-amino acid CHEBI:161680 aztreonam CHEBI:16385 organic sulfide CHEBI:16646 carbohydrate CHEBI:167099 benzo[d]isothiazol-3-one CHEBI:16842 formaldehyde CHEBI:16899 D-mannitol CHEBI:17087 ketone CHEBI:17102 phosphoramide CHEBI:17334 penicillin CHEBI:17478 aldehyde CHEBI:17522 alditol CHEBI:17792 organohalogen compound CHEBI:18059 lipid CHEBI:18208 benzylpenicillin CHEBI:204928 cefotaxime CHEBI:22221 acyl group CHEBI:22315 alkaloid CHEBI:22527 aminopurine CHEBI:22562 anilines CHEBI:22682 azobenzenes CHEBI:22693 barbiturates CHEBI:22712 benzenes CHEBI:22723 benzoic acids CHEBI:22726 benzophenones CHEBI:22750 benzylisoquinoline alkaloid CHEBI:22925 bromide salt CHEBI:22928 bromine molecular entity CHEBI:23048 carvones CHEBI:23066 cephalosporin CHEBI:23117 chlorine molecular entity CHEBI:23132 chlorobenzenes CHEBI:23367 molecular entity CHEBI:23443 cyclic amide CHEBI:23666 diamine CHEBI:23697 dichlorobenzene CHEBI:23888 drug CHEBI:23906 monoatomic cation CHEBI:24129 furans CHEBI:24431 chemical entity CHEBI:24433 group CHEBI:24436 guanidines CHEBI:24471 halogen molecular entity CHEBI:24531 heterocyclic antibiotic CHEBI:24532 organic heterocyclic compound CHEBI:24583 hexitol CHEBI:24628 imidazolidine-2,4-dione CHEBI:24651 hydroxides CHEBI:24833 oxoacid CHEBI:24835 inorganic molecular entity CHEBI:24866 salt CHEBI:24867 monoatomic ion CHEBI:24868 organic salt CHEBI:24870 ion CHEBI:24913 isoprenoid CHEBI:24921 isoquinoline alkaloid CHEBI:24995 lactam CHEBI:25000 lactone CHEBI:25186 p-menthane monoterpenoid CHEBI:25213 metal cation CHEBI:25367 molecule CHEBI:25384 monocarboxylic acid CHEBI:25409 monoterpenoid CHEBI:25558 organonitrogen heterocyclic antibiotic CHEBI:25693 organic heteromonocyclic compound CHEBI:25697 organic cation CHEBI:25698 ether CHEBI:25699 organic ion CHEBI:25754 oxo carboxylic acid CHEBI:25806 oxygen molecular entity CHEBI:25865 penicillanic acids CHEBI:25985 phenylalanine derivative CHEBI:26096 phthalyl group CHEBI:26151 piperidines CHEBI:26191 polyol CHEBI:26217 potassium molecular entity CHEBI:26218 potassium salt CHEBI:26401 purines CHEBI:26421 pyridines CHEBI:26509 quinoline alkaloid CHEBI:26513 quinolines CHEBI:26596 salicylates CHEBI:26658 sesquiterpenoid CHEBI:26712 sodium molecular entity CHEBI:26714 sodium salt CHEBI:2674 amodiaquine CHEBI:2676 amoxicillin CHEBI:26822 sulfide CHEBI:26835 sulfur molecular entity CHEBI:26873 terpenoid CHEBI:26888 tetrachlorobenzene CHEBI:26912 oxolanes CHEBI:26961 thiophenes CHEBI:26979 organic heterotricyclic compound CHEBI:27081 transition element atom CHEBI:27171 organic heterobicyclic compound CHEBI:27207 univalent carboacyl group CHEBI:27561 oxirane CHEBI:27638 cobalt atom CHEBI:27933 beta-lactam antibiotic CHEBI:28073 chromium atom CHEBI:28084 3-(carbamoyloxymethyl)cephalosporin CHEBI:28112 nickel atom CHEBI:28593 quinidine CHEBI:28876 melphalan CHEBI:29007 ceftriaxone CHEBI:29347 monocarboxylic acid amide CHEBI:29864 mannitol CHEBI:30746 benzoic acid A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom. CHEBI:30879 alcohol A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom. url:https://medlineplus.gov/alcohol.html CHEBI:31635 neomycin sulfate CHEBI:32876 tertiary amine CHEBI:32952 amine CHEBI:32955 epoxide CHEBI:32988 amide CHEBI:33232 application CHEBI:33238 monoatomic entity CHEBI:33241 oxoacid derivative CHEBI:33245 organic fundamental parent CHEBI:33247 organic group CHEBI:33249 organyl group CHEBI:33250 atom CHEBI:33256 primary amide CHEBI:33259 elemental molecular entity CHEBI:33261 organosulfur compound CHEBI:33285 heteroorganic entity CHEBI:33296 alkali metal molecular entity CHEBI:33302 pnictogen molecular entity CHEBI:33304 chalcogen molecular entity CHEBI:33308 carboxylic ester CHEBI:33350 chromium group element atom CHEBI:33358 cobalt group element atom CHEBI:33362 nickel group element atom CHEBI:33363 palladium CHEBI:33365 platinum group metal atom CHEBI:33424 sulfur oxoacid derivative CHEBI:33521 metal atom CHEBI:33552 sulfonic acid derivative CHEBI:33561 d-block element atom CHEBI:33575 carboxylic acid CHEBI:33579 main group molecular entity CHEBI:33582 carbon group molecular entity CHEBI:33595 cyclic compound CHEBI:33597 homocyclic compound CHEBI:33598 carbocyclic compound CHEBI:33608 hydrogen molecular entity CHEBI:33635 polycyclic compound CHEBI:33636 bicyclic compound CHEBI:33655 aromatic compound CHEBI:33659 organic aromatic compound CHEBI:33661 monocyclic compound CHEBI:33670 heteromonocyclic compound CHEBI:33671 heteropolycyclic compound CHEBI:33672 heterobicyclic compound CHEBI:33674 s-block molecular entity CHEBI:33675 p-block molecular entity CHEBI:33692 hydrides CHEBI:33702 polyatomic cation CHEBI:33704 alpha-amino acid CHEBI:33709 amino acid CHEBI:33822 organic hydroxy compound CHEBI:33832 organic cyclic compound CHEBI:33833 heteroarene CHEBI:33836 benzenoid aromatic compound CHEBI:33853 phenols CHEBI:33859 aromatic carboxylic acid CHEBI:33860 aromatic amine CHEBI:3387 carbamazepine CHEBI:33958 halide salt CHEBI:34444 4-tert-butylphenol CHEBI:34718 1-chloro-2,4-dinitrobenzene CHEBI:3478 cefaclor CHEBI:3508 ceftazidime CHEBI:3515 cefuroxime CHEBI:35259 benzofurans CHEBI:35267 quaternary ammonium ion CHEBI:35274 ammonium ion derivative CHEBI:35286 iminium ion CHEBI:35341 steroid CHEBI:35350 hydroxy steroid CHEBI:35352 organonitrogen compound CHEBI:35358 sulfonamide CHEBI:35362 hydrazide CHEBI:35363 carbohydrazide CHEBI:35410 primary diamine CHEBI:35467 phosphorodiamide CHEBI:35479 alkali metal salt CHEBI:35507 natural product fundamental parent CHEBI:35508 steroid fundamental parent CHEBI:35509 androstane CHEBI:355510 cefotiam CHEBI:35552 heterocyclic organic fundamental parent CHEBI:35605 carbon oxoacid CHEBI:35618 aromatic ether CHEBI:35627 beta-lactam CHEBI:35681 secondary alcohol CHEBI:35701 ester CHEBI:35715 nitro compound CHEBI:35716 C-nitro compound CHEBI:35790 oxazole CHEBI:35850 sulfone CHEBI:35871 oxo monocarboxylic acid CHEBI:35873 carboxylic anhydride CHEBI:35875 imidazopyrimidine CHEBI:35951 dioxo monocarboxylic acid CHEBI:35992 penams CHEBI:3614 chlorhexidine CHEBI:36181 succinate ester CHEBI:36357 polyatomic entity CHEBI:36358 polyatomic ion CHEBI:36388 saturated organic heterocyclic parent CHEBI:36389 saturated organic heteromonocyclic parent CHEBI:36586 carbonyl compound CHEBI:36587 organic oxo compound CHEBI:36605 phthalic anhydride CHEBI:36606 acid anhydride CHEBI:36607 cyclic acid anhydride CHEBI:36609 cyclic dicarboxylic anhydride CHEBI:36683 organochlorine compound CHEBI:36688 heterotricyclic compound CHEBI:36709 aminoquinoline CHEBI:36816 oxime O-ether CHEBI:36834 3-hydroxy steroid CHEBI:36835 3alpha-hydroxy steroid CHEBI:36914 inorganic ion CHEBI:36915 inorganic cation CHEBI:36916 cation CHEBI:36962 organochalcogen compound CHEBI:36963 organooxygen compound CHEBI:37175 organic hydride CHEBI:37407 cyclic ether CHEBI:37533 azo compound CHEBI:37577 heteroatomic molecular entity CHEBI:37578 halide CHEBI:37598 nitrogen mustard CHEBI:37622 carboxamide CHEBI:37667 sesquiterpene lactone CHEBI:37668 terpene lactone CHEBI:3770 co-trimoxazole CHEBI:37838 carboacyl group CHEBI:38001 2,6-diaminopurines CHEBI:38101 organonitrogen heterocyclic compound CHEBI:38102 triazines CHEBI:38104 oxacycle CHEBI:38106 organosulfur heterocyclic compound CHEBI:38166 organic heteropolycyclic compound CHEBI:38179 monocyclic heteroarene CHEBI:38260 pyrrolidines CHEBI:38261 imidazolidines CHEBI:38265 carvone CHEBI:38304 diazolidine CHEBI:38311 cephem CHEBI:38313 diazines CHEBI:38337 pyrimidone CHEBI:38338 aminopyrimidine CHEBI:38418 1,3-thiazoles CHEBI:38700 organic sodium salt CHEBI:38785 morpholines CHEBI:38831 2-benzofurans CHEBI:39410 1,2,4-triazines CHEBI:39447 pyrimidines CHEBI:4027 cyclophosphamide CHEBI:421707 abacavir CHEBI:43968 meropenem CHEBI:45652 succinylcholine CHEBI:45924 trimethoprim CHEBI:46633 carbapenems CHEBI:46634 carbapenemcarboxylic acid CHEBI:46770 pyrrolidinecarboxamide CHEBI:46952 oxazinane CHEBI:47016 tetrahydrofuranone CHEBI:47022 tetrahydrofurandione CHEBI:472657 cefixime CHEBI:47381 diclofenac CHEBI:474859 maleic anhydride CHEBI:47622 acetate ester CHEBI:47804 dibenzoazepine CHEBI:47857 ureas CHEBI:48369 organic bromide salt CHEBI:48592 piperidinecarboxamide CHEBI:488385 alcuronium bromide CHEBI:48901 thiazoles CHEBI:48960 bis(azo) compound CHEBI:48975 substituted aniline CHEBI:50047 organic amino compound CHEBI:503442 gallamine CHEBI:50492 thiocarbonyl compound CHEBI:50695 monobactam CHEBI:50858 corticosteroid CHEBI:50860 organic molecular entity CHEBI:50893 azaarene CHEBI:50906 role CHEBI:50995 secondary amino compound CHEBI:50996 tertiary amino compound CHEBI:51069 organic halide salt CHEBI:51143 nitrogen molecular entity CHEBI:51276 thioureas CHEBI:51323 cinchona alkaloid CHEBI:51402 phenylenediamine CHEBI:51403 1,4-phenylenediamine CHEBI:51447 organic univalent group CHEBI:51683 methoxybenzenes CHEBI:51958 organic polycyclic compound CHEBI:51959 organic tricyclic compound CHEBI:52217 pharmaceutical CHEBI:53018 2,4-dinitrophenyl group CHEBI:53050 trimellitic anhydride CHEBI:53212 isocyanates CHEBI:53213 diisocyanate CHEBI:53218 diphenylmethane-4,4'-diisocyanate CHEBI:53444 potassium dichromate CHEBI:53555 toluene meta-diisocyanate CHEBI:53556 toluene 2,4-diisocyanate CHEBI:53578 hexamethylene diisocyanate CHEBI:53662 biguanides CHEBI:53731 remazole black-GR CHEBI:53767 chloramine T CHEBI:5516 sodium aurothiomalate CHEBI:55370 imidazolidinone CHEBI:55373 isoxazoles CHEBI:5686 heterocyclic compound CHEBI:59001 4-vinylcyclohexene dioxide CHEBI:59059 methyl isocyanate CHEBI:59097 tetrachlorophthalic anhydride CHEBI:59601 patent blue V CHEBI:59999 chemical substance CHEBI:60004 mixture CHEBI:6030 isoniazide CHEBI:6128 ketoprofen CHEBI:6456 lidocaine CHEBI:64708 one-carbon compound CHEBI:64709 organic acid CHEBI:6759 mepivacaine CHEBI:68452 azole CHEBI:72588 semisynthetic derivative CHEBI:72695 organic molecule CHEBI:76224 aromatic ketone CHEBI:78616 carbohydrates and carbohydrate derivatives CHEBI:79020 alpha,beta-unsaturated monocarboxylic acid CHEBI:7939 parthenolide CHEBI:8069 phenobarbital CHEBI:8107 phenytoin CHEBI:8232 piperacillin CHEBI:82448 N,N'-diethylthiourea CHEBI:83403 monochlorobenzenes CHEBI:83811 proteinogenic amino acid derivative CHEBI:83820 non-proteinogenic amino acid CHEBI:83821 amino acid derivative CHEBI:83822 non-proteinogenic L-alpha-amino acid CHEBI:83925 non-proteinogenic alpha-amino acid CHEBI:84144 L-phenylalanine derivative CHEBI:86494 botanical anti-fungal agent CHEBI:87228 sulfonamide antibiotic CHEBI:8776 ranitidine CHEBI:88061 polyamine CHEBI:88184 metal allergen CHEBI:88187 penicillin allergen CHEBI:88225 beta-lactam antibiotic allergen CHEBI:8884 rocuronium CHEBI:9332 sulfamethoxazole CHEBI:9334 sulfasalazine CHEBI:9362 suprofen CHEBI:9774 tubocurarine Environmental or genetic mechanisms driving the occurrance of complex diseases. DISDRIV:0000000 disease driver Environmental or genetic mechanisms driving the occurrance of complex diseases. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC4517741/ A disease driver that is a chemical. DISDRIV:0000006 chemical driver A disease driver that is a chemical. url:https://pubmed.ncbi.nlm.nih.gov/29351546/ A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels. DOID:267 DOID:4508 ICDO:9120/3 MESH:D006394 NCI:C3088 NCI:C9275 SNOMEDCT_US_2023_03_01:39000009 UMLS_CUI:C0018923 UMLS_CUI:C0854893 hemangiosarcoma disease_ontology DOID:0001816 angiosarcoma A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels. url:http://en.wikipedia.org/wiki/Hemangiosarcoma url:https://en.wikipedia.org/wiki/Angiosarcoma url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3088 url:https://www.ncbi.nlm.nih.gov/pubmed/23327728 A disease that involving errors in metabolic processes of building or degradation of molecules. ICD10CM:E88.9 ICD9CM:277.9 MESH:D008659 NCI:C3235 SNOMEDCT_US_2023_03_01:75934005 UMLS_CUI:C0025517 metabolic disease disease_ontology DOID:0014667 disease of metabolism A disease that involving errors in metabolic processes of building or degradation of molecules. url:http://www.ncbi.nlm.nih.gov/books/NBK22259/ A crustacean allergy that has_allergic_trigger shrimp. disease_ontology DOID:0040001 shrimp allergy A crustacean allergy that has_allergic_trigger shrimp. url:https://www.ncbi.nlm.nih.gov/pubmed/20471069 IEDB:RV A drug allergy that has_allergic_trigger acetylsalicylic acid. SNOMEDCT_US_2023_03_01:293586001 UMLS_CUI:C0004058 ASA allergy acetylsalicylic acid allergy disease_ontology DOID:0040002 aspirin allergy A drug allergy that has_allergic_trigger acetylsalicylic acid. url:https://www.ncbi.nlm.nih.gov/pubmed/2468301 IEDB:RV A beta-lactam allergy that has_allergic_trigger benzylpenicillin. SNOMEDCT_US_2023_03_01:294499007 UMLS_CUI:C0571411 benzyl penicillin allergy penicillin G allergy disease_ontology DOID:0040003 benzylpenicillin allergy A beta-lactam allergy that has_allergic_trigger benzylpenicillin. url:https://www.ncbi.nlm.nih.gov/pubmed/14483916 IEDB:RV A beta-lactam allergy that has_allergic_trigger amoxicillin. SNOMEDCT_US_2023_03_01:294505008 UMLS_CUI:C0571417 disease_ontology DOID:0040004 amoxicillin allergy A beta-lactam allergy that has_allergic_trigger amoxicillin. url:https://www.ncbi.nlm.nih.gov/pubmed/11746950 IEDB:RV A cephalosporin allergy that has_allergic_trigger ceftriaxone. SNOMEDCT_US_2023_03_01:294551009 UMLS_CUI:C0571463 rocephin allergy disease_ontology DOID:0040005 ceftriaxone allergy A cephalosporin allergy that has_allergic_trigger ceftriaxone. url:https://www.ncbi.nlm.nih.gov/pubmed/12833570 IEDB:RV A drug allergy that has_allergic_trigger carbamazepine. SNOMEDCT_US_2023_03_01:293867002 UMLS_CUI:C0570787 Tegretol allergy carbamazepen allergy disease_ontology DOID:0040006 carbamazepine allergy A drug allergy that has_allergic_trigger carbamazepine. url:https://www.ncbi.nlm.nih.gov/pubmed/7602118 IEDB:RV A drug allergy that has_allergic_trigger abacavir. ABC allergy disease_ontology DOID:0040007 abacavir allergy A drug allergy that has_allergic_trigger abacavir. url:https://www.ncbi.nlm.nih.gov/pubmed/25674793 IEDB:RV A drug allergy that has_allergic_trigger isoniazide. ICD10CM:Z88.1 INH allergy isonicotinylhydrazide allergy disease_ontology DOID:0040008 isoniazide allergy A drug allergy that has_allergic_trigger isoniazide. url:https://www.ncbi.nlm.nih.gov/pubmed/445303 IEDB:RV A drug allergy that has_allergic_trigger lidocaine. SNOMEDCT_US_2023_03_01:293722000 UMLS_CUI:C0570646 Lidoderm allergy lignocaine allergy xylocaine allergy disease_ontology DOID:0040009 lidocaine allergy A drug allergy that has_allergic_trigger lidocaine. url:https://www.ncbi.nlm.nih.gov/pubmed/9013953 IEDB:RV A drug allergy that has_allergic_trigger mepivacaine. ICD10CM:Z88.4 Carbocaine allergy Polocaine allergy disease_ontology DOID:0040010 mepivacaine allergy A drug allergy that has_allergic_trigger mepivacaine. url:https://www.ncbi.nlm.nih.gov/pubmed/9989796 IEDB:RV A drug allergy that has_allergic_trigger phenobarbital. SNOMEDCT_US_2023_03_01:293865005 UMLS_CUI:C0570785 Luminal allergy phenobarbitol allergy phenobarbitone allergy disease_ontology DOID:0040011 phenobarbital allergy A drug allergy that has_allergic_trigger phenobarbital. url:https://www.ncbi.nlm.nih.gov/pubmed/11994495 IEDB:RV A drug allergy that has_allergic_trigger phenytoin. SNOMEDCT_US_2023_03_01:293869004 UMLS_CUI:C0570789 Dilantin allergy disease_ontology DOID:0040012 phenytoin allergy A drug allergy that has_allergic_trigger phenytoin. url:https://www.ncbi.nlm.nih.gov/pubmed/7602118 IEDB:RV A drug allergy that has_allergic_trigger ranitidine. SNOMEDCT_US_2023_03_01:293653009 UMLS_CUI:C0570577 Zantac allergy disease_ontology DOID:0040013 ranitidine allergy A drug allergy that has_allergic_trigger ranitidine. url:https://www.ncbi.nlm.nih.gov/pubmed/7782125 IEDB:RV A drug allergy that has_allergic_trigger corticosteroid. disease_ontology DOID:0040014 corticosteroid allergy A drug allergy that has_allergic_trigger corticosteroid. url:https://www.ncbi.nlm.nih.gov/pubmed/2265088 IEDB:RV A drug allergy that has_allergic_trigger sulfonamide. SNOMEDCT_US_2023_03_01:91939003 UMLS_CUI:C0038757 disease_ontology DOID:0040015 sulfonamide allergy A drug allergy that has_allergic_trigger sulfonamide. url:https://www.ncbi.nlm.nih.gov/pubmed/2434548 IEDB:RV A drug allergy that has_allergic_trigger sulfamethoxazole. SMX allergy SMZ allergy sulphamethoxazole allergy disease_ontology DOID:0040016 sulfamethoxazole allergy A drug allergy that has_allergic_trigger sulfamethoxazole. url:https://www.ncbi.nlm.nih.gov/pubmed/7602118 IEDB:RV A drug allergy that has_allergic_trigger suprofen. Profenal allergy disease_ontology DOID:0040017 suprofen allergy A drug allergy that has_allergic_trigger suprofen. url:https://www.ncbi.nlm.nih.gov/pubmed/509935 IEDB:RV A drug allergy that has_allergic_trigger thiopental. SNOMEDCT_US_2023_03_01:293709008 UMLS_CUI:C0570633 penthiobarbital allergy pentothiobarbital allergy disease_ontology DOID:0040018 thiopental allergy A drug allergy that has_allergic_trigger thiopental. url:https://www.ncbi.nlm.nih.gov/pubmed/2215478 IEDB:RV A drug allergy that has_allergic_trigger D-mannitol. SNOMEDCT_US_2023_03_01:295019008 UMLS_CUI:C0571922 mannitol allergy disease_ontology DOID:0040019 D-mannitol allergy A drug allergy that has_allergic_trigger D-mannitol. url:https://www.ncbi.nlm.nih.gov/pubmed/15479277 IEDB:RV A cephalosporin allergy that has_allergic_trigger cefotaxime. SNOMEDCT_US_2023_03_01:294545004 UMLS_CUI:C0571457 disease_ontology DOID:0040020 cefotaxime allergy A cephalosporin allergy that has_allergic_trigger cefotaxime. url:https://www.ncbi.nlm.nih.gov/pubmed/12833570 IEDB:RV A drug allergy that has_allergic_trigger cephalosporin. SNOMEDCT_US_2023_03_01:294532003 UMLS_CUI:C0571444 disease_ontology DOID:0040021 cephalosporin allergy A drug allergy that has_allergic_trigger cephalosporin. url:https://www.ncbi.nlm.nih.gov/pubmed/2083978 IEDB:RV A drug allergy that has_allergic_trigger amodiaquine. SNOMEDCT_US_2023_03_01:294390007 UMLS_CUI:C0571303 Camoquin allergy Flavoquine allergy disease_ontology DOID:0040022 amodiaquine allergy A drug allergy that has_allergic_trigger amodiaquine. url:https://www.ncbi.nlm.nih.gov/pubmed/1959977 IEDB:RV A cephalosporin allergy that has_allergic_trigger cefaclor. SNOMEDCT_US_2023_03_01:294541008 UMLS_CUI:C0571453 Ceclor allergy cephaclor allergy disease_ontology DOID:0040023 cefaclor allergy A cephalosporin allergy that has_allergic_trigger cefaclor. url:https://www.ncbi.nlm.nih.gov/pubmed/12569987 IEDB:RV A cephalosporin allergy that has_allergic_trigger ceftazidime. SNOMEDCT_US_2023_03_01:294546003 UMLS_CUI:C0571458 Fortaz allergy Tazicef allergy disease_ontology DOID:0040024 ceftazidime allergy A cephalosporin allergy that has_allergic_trigger ceftazidime. url:https://www.ncbi.nlm.nih.gov/pubmed/12833570 IEDB:RV A cephalosporin allergy that has_allergic_trigger cefuroxime. SNOMEDCT_US_2023_03_01:294542001 UMLS_CUI:C0571454 Zinacef allergy cephuroxime allergy disease_ontology DOID:0040025 cefuroxime allergy A cephalosporin allergy that has_allergic_trigger cefuroxime. url:https://www.ncbi.nlm.nih.gov/pubmed/12833570 IEDB:RV A drug allergy that has_allergic_trigger chlorhexidine. SNOMEDCT_US_2023_03_01:294431008 UMLS_CUI:C0571344 disease_ontology DOID:0040026 chlorhexidine allergy A drug allergy that has_allergic_trigger chlorhexidine. url:https://www.ncbi.nlm.nih.gov/pubmed/10848923 IEDB:RV A drug allergy that has_allergic_trigger cyclophosphamide. SNOMEDCT_US_2023_03_01:293748008 UMLS_CUI:C0570670 cytophosphane allergy disease_ontology DOID:0040027 cyclophosphamide allergy A drug allergy that has_allergic_trigger cyclophosphamide. url:https://www.ncbi.nlm.nih.gov/pubmed/8024619 IEDB:RV A drug allergy that has_allergic_trigger succinylcholine. SNOMEDCT_US_2023_03_01:294224007 UMLS_CUI:C0571140 dicholine succinate allergy succinocholine allergy sux allergy suxamethonium allergy disease_ontology DOID:0040028 succinylcholine allergy A drug allergy that has_allergic_trigger succinylcholine. url:https://www.ncbi.nlm.nih.gov/pubmed/2410473 IEDB:RV A drug allergy that has_allergic_trigger trimethoprim. SNOMEDCT_US_2023_03_01:294477004 UMLS_CUI:C0571390 Primsol allergy TMP allergy proloprim allergy disease_ontology DOID:0040029 trimethoprim allergy A drug allergy that has_allergic_trigger trimethoprim. url:https://www.ncbi.nlm.nih.gov/pubmed/3377143 IEDB:RV A cephalosporin allergy that has_allergic_trigger cefixime. SNOMEDCT_US_2023_03_01:294548002 UMLS_CUI:C0571460 disease_ontology DOID:0040030 cefixime allergy A cephalosporin allergy that has_allergic_trigger cefixime. url:https://www.ncbi.nlm.nih.gov/pubmed/16867046 IEDB:RV A drug allergy that has_allergic_trigger diclofenac. SNOMEDCT_US_2023_03_01:293613006 UMLS_CUI:C0570540 Voltaren allergy disease_ontology DOID:0040031 diclofenac allergy A drug allergy that has_allergic_trigger diclofenac. url:https://www.ncbi.nlm.nih.gov/pubmed/21060839 IEDB:RV A drug allergy that has_allergic_trigger carbapenems. SNOMEDCT_US_2023_03_01:294531005 UMLS_CUI:C0571443 disease_ontology DOID:0040032 carbapenem allergy A drug allergy that has_allergic_trigger carbapenems. url:https://www.ncbi.nlm.nih.gov/pubmed/2457043 IEDB:RV A beta-lactam allergy that has_allergic_trigger piperacillin. SNOMEDCT_US_2023_03_01:294515002 UMLS_CUI:C0571427 disease_ontology DOID:0040033 piperacillin allergy A beta-lactam allergy that has_allergic_trigger piperacillin. url:https://www.ncbi.nlm.nih.gov/pubmed/21532862 IEDB:RV A drug allergy that has_allergic_trigger rocuronium. SNOMEDCT_US_2023_03_01:294233009 UMLS_CUI:C0571149 Esmeron allergy Zemuron allergy disease_ontology DOID:0040034 rocuronium allergy A drug allergy that has_allergic_trigger rocuronium. url:https://www.ncbi.nlm.nih.gov/pubmed/17667569 IEDB:RV A drug allergy that has_allergic_trigger sulfasalazine. SNOMEDCT_US_2023_03_01:293663001 UMLS_CUI:C0570587 disease_ontology DOID:0040035 sulfasalazine allergy A drug allergy that has_allergic_trigger sulfasalazine. url:https://www.ncbi.nlm.nih.gov/pubmed/2434548 IEDB:RV A drug allergy that has_allergic_trigger tubocurarine. SNOMEDCT_US_2023_03_01:294231006 UMLS_CUI:C0571147 DTC allergy disease_ontology DOID:0040036 tubocurarine allergy A drug allergy that has_allergic_trigger tubocurarine. url:https://www.ncbi.nlm.nih.gov/pubmed/2215478 IEDB:RV A beta-lactam allergy that has_allergic_trigger aztreonam. SNOMEDCT_US_2023_03_01:294565006 UMLS_CUI:C0571476 Azactam allergy Primbactam allergy disease_ontology DOID:0040037 aztreonam allergy A beta-lactam allergy that has_allergic_trigger aztreonam. url:https://www.ncbi.nlm.nih.gov/pubmed/1991925 IEDB:RV An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic. Merrem allergy disease_ontology DOID:0040038 meropenem allergy An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic. url:https://www.ncbi.nlm.nih.gov/pubmed/23668298 IEDB:RV An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate. allergic asthma to HDI allergic asthma to HMDI disease_ontology DOID:0040040 hexamethylene diisocyanate allergic asthma An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate. url:https://www.ncbi.nlm.nih.gov/pubmed/8711735 IEDB:RV An allergic asthma that has_allergic_trigger isocyanates. disease_ontology DOID:0040041 isocyanates allergic asthma An allergic asthma that has_allergic_trigger isocyanates. url:https://www.ncbi.nlm.nih.gov/pubmed/3349596 IEDB:RV An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate. allergic asthma to MDI disease_ontology DOID:0040042 diphenylmethane-4,4'-diisocyanate allergic asthma An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate. url:https://www.ncbi.nlm.nih.gov/pubmed/8711735 IEDB:RV An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate. allergic asthma to TDI disease_ontology DOID:0040043 toluene meta-diisocyanate allergic asthma An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate. url:https://www.ncbi.nlm.nih.gov/pubmed/11289402 IEDB:RV An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate. allergic asthma to MIC disease_ontology DOID:0040044 methyl isocyanate allergic asthma An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate. url:https://www.ncbi.nlm.nih.gov/pubmed/3622432 IEDB:RV An allergic asthma that has_allergic_trigger nickel atom. allergic asthma to Ni disease_ontology DOID:0040045 nickel allergic asthma An allergic asthma that has_allergic_trigger nickel atom. url:https://www.ncbi.nlm.nih.gov/pubmed/6691936 IEDB:RV An allergic contact dermatitis that has_allergic_trigger nickel atom. ICD10CM:L23.0 allergic contact dermatitis to Ni disease_ontology DOID:0040046 nickel allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger nickel atom. url:https://www.ncbi.nlm.nih.gov/pubmed/7671317 IEDB:RV An allergic asthma that has_allergic_trigger trimellitic anhydride. allergic asthma to TMA disease_ontology DOID:0040047 trimellitic anhydride allergic asthma An allergic asthma that has_allergic_trigger trimellitic anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/6643876 IEDB:RV An allergic asthma that has_allergic_trigger phthalic anhydride. disease_ontology DOID:0040048 phthalic anhydride allergic asthma An allergic asthma that has_allergic_trigger phthalic anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/3711550 IEDB:RV An allergic asthma that has_allergic_trigger maleic anhydride. allergic asthma to MA disease_ontology DOID:0040049 maleic anhydride allergic asthma An allergic asthma that has_allergic_trigger maleic anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/3711550 IEDB:RV An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride. disease_ontology DOID:0040050 tetrachlorophthalic anhydride allergic asthma An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/3711550 IEDB:RV An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride. allergic asthma to HHPA disease_ontology DOID:0040051 hexahydrophthalic anhydride allergic asthma An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/4008795 IEDB:RV An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate. allergic contact dermatitis to MDI disease_ontology DOID:0040052 diphenylmethane-4,4'-diisocyanate allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate. url:https://www.ncbi.nlm.nih.gov/pubmed/6296214 IEDB:RV An allergic contact dermatitis that has_allergic_trigger cobalt atom. allergic contact dermatitis to Co disease_ontology DOID:0040053 cobalt allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger cobalt atom. url:https://www.ncbi.nlm.nih.gov/pubmed/8566016 IEDB:RV An allergic asthma that has_allergic_trigger cobalt atom. Co allergic asthma disease_ontology DOID:0040054 cobalt allergic asthma An allergic asthma that has_allergic_trigger cobalt atom. url:https://www.ncbi.nlm.nih.gov/pubmed/7444839 IEDB:RV An allergic contact dermatitis that has_allergic_trigger palladium. allergic contact dermatitis to Pd disease_ontology DOID:0040055 palladium allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger palladium. url:https://www.ncbi.nlm.nih.gov/pubmed/25097477 IEDB:RV An allergic contact dermatitis that has_allergic_trigger chromium atom. ICD10CM:L23.0 disease_ontology DOID:0040056 chromium allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger chromium atom. url:https://www.ncbi.nlm.nih.gov/pubmed/1108802 IEDB:RV An allergic contact dermatitis that has_allergic_trigger benzoic acid. SNOMEDCT_US_2023_03_01:294186000 UMLS_CUI:C0571102 allergic contact dermatitis to benzoate disease_ontology DOID:0040057 benzoic acid allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger benzoic acid. url:https://www.ncbi.nlm.nih.gov/pubmed/25097477 IEDB:RV An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine. allergic contact dermatitis to PPD allergic contact dermatitis to p-phenylenediamine disease_ontology DOID:0040058 1,4-phenylenediamine allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine. url:https://www.ncbi.nlm.nih.gov/pubmed/8400900 IEDB:RV An allergic contact dermatitis that has_allergic_trigger potassium dichromate. disease_ontology DOID:0040059 potassium dichromate allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger potassium dichromate. url:https://www.ncbi.nlm.nih.gov/pubmed/15462465 IEDB:RV A photoallergic dermatitis that has_allergic_trigger ketoprofen. SNOMEDCT_US_2023_03_01:293621000 UMLS_CUI:C0570547 photoallergic dermatitis to Orudis disease_ontology DOID:0040060 ketoprofen photoallergic dermatitis A photoallergic dermatitis that has_allergic_trigger ketoprofen. url:https://www.ncbi.nlm.nih.gov/pubmed/11169173 IEDB:RV A respiratory allergy that has_allergic_trigger remazole black-GR. respiratory allergy to Reactive Black 5 disease_ontology DOID:0040061 remazole black respiratory allergy A respiratory allergy that has_allergic_trigger remazole black-GR. url:https://www.ncbi.nlm.nih.gov/pubmed/2312995 IEDB:RV A respiratory allergy that has_allergic_trigger chloramine T. respiratory allergy to Chloraseptin respiratory allergy to Chlorazol respiratory allergy to Trichlorol disease_ontology DOID:0040062 chloramine T respiratory allergy A respiratory allergy that has_allergic_trigger chloramine T. url:https://www.ncbi.nlm.nih.gov/pubmed/2758361 IEDB:RV A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide. respiratory allergy to vinyl cyclohexene diepoxide disease_ontology DOID:0040063 4-vinylcyclohexene dioxide respiratory allergy A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide. url:https://www.ncbi.nlm.nih.gov/pubmed/3356477 IEDB:RV An allergic contact dermatitis that has_allergic_trigger (-)-carvone. allergic contact dermatitis to levo-carvone disease_ontology DOID:0040064 carvone allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger (-)-carvone. url:https://www.ncbi.nlm.nih.gov/pubmed/11380545 IEDB:RV A drug allergy that has_allergic_trigger quinidine. SNOMEDCT_US_2023_03_01:294978001 UMLS_CUI:C0571881 Kinidin allergy disease_ontology DOID:0040065 quinidine allergy A drug allergy that has_allergic_trigger quinidine. url:https://www.ncbi.nlm.nih.gov/pubmed/445303 IEDB:RV A drug allergy that has_allergic_trigger melphalan. SNOMEDCT_US_2023_03_01:293751001 UMLS_CUI:C0570673 Alkeran allergy disease_ontology DOID:0040066 melphalan allergy A drug allergy that has_allergic_trigger melphalan. url:https://www.ncbi.nlm.nih.gov/pubmed/445303 IEDB:RV An allergic contact dermatitis that has_allergic_trigger neomycin sulfate. SNOMEDCT_US_2023_03_01:409640001 UMLS_CUI:C1443961 allergic contact dermatitis to neomycin sulphate disease_ontology DOID:0040067 neomycin sulfate allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger neomycin sulfate. url:https://www.ncbi.nlm.nih.gov/pubmed/21616561 IEDB:RV An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol. allergic contact dermatitis to PTBP allergic contact dermatitis to butylphen disease_ontology DOID:0040068 4-tert-butylphenol allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol. url:https://www.ncbi.nlm.nih.gov/pubmed/8462290 IEDB:RV An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene. allergic contact dermatitis to DNCB allergic contact dermatitis to dinitrochlorobenzene disease_ontology DOID:0040069 1-chloro-2,4-dinitrobenzene allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene. url:https://www.ncbi.nlm.nih.gov/pubmed/17008874 IEDB:RV A drug allergy that has_allergic_trigger co-trimoxazole. SNOMEDCT_US_2023_03_01:294594004 UMLS_CUI:C0571504 Bactrim allergy TMP/SMX allergy cotrimoxazol allergy trimethoprim/sulfamethoxazole allergy disease_ontology DOID:0040070 co-trimoxazole allergy A drug allergy that has_allergic_trigger co-trimoxazole. url:https://www.ncbi.nlm.nih.gov/pubmed/445303 IEDB:RV A drug allergy that has_allergic_trigger sodium aurothiomalate. SNOMEDCT_US_2023_03_01:294239008 UMLS_CUI:C0571155 gold sodium thiomalate allergy disease_ontology DOID:0040071 sodium aurothiomalate allergy A drug allergy that has_allergic_trigger sodium aurothiomalate. url:https://www.ncbi.nlm.nih.gov/pubmed/445303 IEDB:RV An allergic contact dermatitis that has_allergic_trigger parthenolide. allergic contact dermatitis to feverfew disease_ontology DOID:0040072 parthenolide allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger parthenolide. url:https://www.ncbi.nlm.nih.gov/pubmed/17986299 IEDB:RV A drug allergy that has_allergic_trigger disodium cromoglycate. DSCG allergy disease_ontology DOID:0040073 disodium cromoglycate allergy A drug allergy that has_allergic_trigger disodium cromoglycate. url:https://www.ncbi.nlm.nih.gov/pubmed/3128591 IEDB:RV An allergic contact dermatitis that has_allergic_trigger formaldehyde. SNOMEDCT_US_2023_03_01:294426006 UMLS_CUI:C0571339 allergic contact dermatitis to formalin disease_ontology DOID:0040074 formaldehyde allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger formaldehyde. url:https://www.ncbi.nlm.nih.gov/pubmed/7902023 IEDB:RV An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one. allergic contact dermatitis to BIT allergic contact dermatitis to benzisothiazolone disease_ontology DOID:0040075 benzo[d]isothiazol-3-one allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one. url:https://www.ncbi.nlm.nih.gov/pubmed/6446435 IEDB:RV A drug allergy that has_allergic_trigger phthalyl group. SNOMEDCT_US_2023_03_01:294571000 UMLS_CUI:C0571482 phthalyl allergy disease_ontology DOID:0040076 phthalyl group allergy A drug allergy that has_allergic_trigger phthalyl group. url:https://www.ncbi.nlm.nih.gov/pubmed/7400667 IEDB:RV A drug allergy that has_allergic_trigger alcuronium bromide. disease_ontology DOID:0040077 alcuronium bromide allergy A drug allergy that has_allergic_trigger alcuronium bromide. url:https://www.ncbi.nlm.nih.gov/pubmed/2215478 IEDB:RV A drug allergy that has_allergic_trigger gallamine. SNOMEDCT_US_2023_03_01:294229002 UMLS_CUI:C0571145 disease_ontology DOID:0040078 gallamine allergy A drug allergy that has_allergic_trigger gallamine. url:https://www.ncbi.nlm.nih.gov/pubmed/2215478 IEDB:RV An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group. allergic contact dermatitis to DNP disease_ontology DOID:0040079 2,4-dinitrophenyl allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group. url:https://www.ncbi.nlm.nih.gov/pubmed/17008874 IEDB:RV A drug allergy that has_allergic_trigger patent blue V. disease_ontology DOID:0040080 patent blue V allergy A drug allergy that has_allergic_trigger patent blue V. url:https://www.ncbi.nlm.nih.gov/pubmed/19804438 IEDB:RV A respiratory allergy that has_allergic_trigger acid anhydride. disease_ontology DOID:0040081 acid anhydride respiratory allergy A respiratory allergy that has_allergic_trigger acid anhydride. url:https://www.ncbi.nlm.nih.gov/pubmed/6643876 IEDB:RV A drug allergy that has_allergic_trigger oxirane. ETO allergy ethylene oxide allergy disease_ontology DOID:0040082 oxirane allergy A drug allergy that has_allergic_trigger oxirane. url:https://www.ncbi.nlm.nih.gov/pubmed/3932500 IEDB:RV A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae. ICD10CM:J16.0 ICD9CM:483.1 disease_ontology DOID:0040083 Chlamydia pneumonia A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae. url:https://www.ncbi.nlm.nih.gov/pubmed/16831205 IEDB:RV A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae. ICD10CM:J13 ICD9CM:481 disease_ontology DOID:0040084 Streptococcus pneumonia A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae. url:https://www.ncbi.nlm.nih.gov/pubmed/26396191 IEDB:RV A bacterial infectious disease has_material_basis_in Bacteria. ICD9CM:995.91 SNOMEDCT_US_2021_09_01:10001005 disease_ontology DOID:0040085 bacterial sepsis A bacterial infectious disease has_material_basis_in Bacteria. url:https://www.ncbi.nlm.nih.gov/pubmed/20421654 IEDB:RV A viral infectious disease has_material_basis_in BK polyomavirus. SNOMEDCT_US_2023_03_01:713886006 UMLS_CUI:C1697878 PVAN polyomavirus associated nephropathy disease_ontology DOID:0040086 Polyomavirus-associated nephropathy A viral infectious disease has_material_basis_in BK polyomavirus. url:https://www.ncbi.nlm.nih.gov/pubmed/16537617 IEDB:RV An autoimmune disease of peripheral nervous system that results in peripheral neuropathy. disease_ontology DOID:0040087 autoimmune peripheral neuropathy An autoimmune disease of peripheral nervous system that results in peripheral neuropathy. url:https://www.ncbi.nlm.nih.gov/pubmed/7693874 IEDB:RV An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea. disease_ontology DOID:0040088 autoimmune uveitis An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea. url:https://www.ncbi.nlm.nih.gov/pubmed/12938234 IEDB:RV An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain. disease_ontology DOID:0040089 autoimmune optic neuritis An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain. url:https://www.ncbi.nlm.nih.gov/pubmed/7516573 IEDB:RV An autoimmune disease of gastrointestinal tract that is located_in the stomach. disease_ontology DOID:0040090 autoimmune gastritis An autoimmune disease of gastrointestinal tract that is located_in the stomach. url:https://www.ncbi.nlm.nih.gov/pubmed/12645953 IEDB:RV An autoimmune disease of endocrine system that is located_in the pancreas. MESH:D000081012 SNOMEDCT_US_2023_03_01:448542008 UMLS_CUI:C2609129 disease_ontology DOID:0040091 autoimmune pancreatitis MESH:D000081012 An autoimmune disease of endocrine system that is located_in the pancreas. url:https://www.ncbi.nlm.nih.gov/pubmed/19940298 IEDB:RV An autoimmune disease of musculoskeletal system that is an ankylosing spondylitis with onset during childhood. ICD10CM:M08.1 SNOMEDCT_US_2023_03_01:201802002 UMLS_CUI:C0409675 disease_ontology DOID:0040092 juvenile ankylosing spondylitis An autoimmune disease of musculoskeletal system that is an ankylosing spondylitis with onset during childhood. url:https://www.ncbi.nlm.nih.gov/pubmed/7541736 IEDB:RV A lupus erythematosus caused by chronic use of certain drugs. ICD10CM:M32.0 NCI:C114354 ORDO:231111 SNOMEDCT_US_2023_03_01:80258006 UMLS_CUI:C0263591 DIL DILE disease_ontology DOID:0040093 drug-induced lupus erythematosus A lupus erythematosus caused by chronic use of certain drugs. url:https://www.ncbi.nlm.nih.gov/pubmed/1378852 IEDB:RV An autoimmune disease of urogenital tract that is located_in the renal glomerulus. DOID:0050146 disease_ontology DOID:0040094 autoimmune glomerulonephritis An autoimmune disease of urogenital tract that is located_in the renal glomerulus. url:https://www.ncbi.nlm.nih.gov/pubmed/8809141 IEDB:RV An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle. disease_ontology DOID:0040095 autoimmune cardiomyopathy An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle. url:https://www.ncbi.nlm.nih.gov/pubmed/10762456 IEDB:RV An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries. disease_ontology DOID:0040096 autoimmune atherosclerosis An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries. url:https://www.ncbi.nlm.nih.gov/pubmed/17097662 IEDB:RV An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels. SNOMEDCT_US_2023_03_01:427213005 UMLS_CUI:C1328843 disease_ontology DOID:0040097 autoimmune vasculitis An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels. url:https://www.ncbi.nlm.nih.gov/pubmed/23549081 IEDB:RV A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180. ICD10CM:O26.4 disease_ontology DOID:0040098 pemphigus gestationis A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180. url:https://www.ncbi.nlm.nih.gov/pubmed/16552711 IEDB:RV A vasculitis with purpuric ulcers. ICD10CM:L95.0 ICD9CM:709.1 livedoid vasculopathy disease_ontology DOID:0040099 livedoid vasculitis A vasculitis with purpuric ulcers. url:https://www.ncbi.nlm.nih.gov/pubmed/10925314 IEDB:RV An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin. SNOMEDCT_US_2023_03_01:408539000 UMLS_CUI:C0854359 insulin autoimmune syndrome disease_ontology DOID:0040100 Hirata disease An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin. url:https://www.ncbi.nlm.nih.gov/pubmed/10445096 IEDB:RV An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea. neoprene allergy disease_ontology DOID:0040101 N,N'-diphenylthiourea allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea. url:https://www.ncbi.nlm.nih.gov/pubmed/28295200 IEDB:RV An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea. neoprene allergy disease_ontology DOID:0040102 N,N'-diethylthiourea allergic contact dermatitis An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea. url:https://www.ncbi.nlm.nih.gov/pubmed/28295200 IEDB:RV A cephalosporin allergy that has_allergic_trigger cefotiam. disease_ontology DOID:0040103 cefotiam allergy A cephalosporin allergy that has_allergic_trigger cefotiam. url:https://www.ncbi.nlm.nih.gov/pubmed/28543395 IEDB:RV A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate. disease_ontology DOID:0040104 toluene 2,4-diisocyanate allergic asthma A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194110/ IEDB:RV A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. GARD:6038 Chikungunya fever disease_ontology DOID:0050012 chikungunya A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. url:http://en.wikipedia.org/wiki/Chikungunya_virus An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism. disease_ontology DOID:0050013 obsolete carbohydrate metabolism disease true An acquired metabolic disease that is characterized by abnormal carbohydrate metabolism. url:http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. DOID:0050021 DOID:0050022 human granulocytic ehrlichiosis disease_ontology HGE DOID:0050025 human granulocytic anaplasmosis An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. url:https://www.ncbi.nlm.nih.gov/pubmed/25999228 A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. infectious disease DOID:10115 DOID:11078 DOID:1304 DOID:1321 DOID:2040 DOID:2288 DOID:3099 DOID:4120 DOID:4620 DOID:5256 DOID:945 DOID:95 DOID:9532 DOID:9696 ICD9CM:079.0 UMLS_CUI:C0001485 disease by infectious agent infectious disease infectious disease disease_ontology DOID:0050117 DO:wk infectious disease A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C26726 A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). disease_ontology DOID:0050155 sensory system disease A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). url:http://en.wikipedia.org/wiki/Sensory_system A pulmonary fibrosis that is characterized by scarring of the lung. EFO:0000768 GARD:8609 ICD10CM:J84.112 ICD9CM:516.31 MESH:D054990 NCI:C35716 OMIM:178500 SNOMEDCT_US_2023_03_01:28168000 UMLS_CUI:C1800706 FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis disease_ontology DOID:0050156 OMIM mapping confirmed by DO. [SN]. idiopathic pulmonary fibrosis A pulmonary fibrosis that is characterized by scarring of the lung. url:https://www.pulmonaryfibrosis.org/life-with-pf/about-ipf A respiratory system disease which involves the lower respiratory tract. ICD9CM:478.19 SNOMEDCT_US_2023_03_01:195823002 UMLS_CUI:C0029581 disease_ontology DOID:0050161 lower respiratory tract disease A respiratory system disease which involves the lower respiratory tract. url:http://en.wikipedia.org/wiki/lower_respiratory_tract An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. GARD:8466 OMIM:240300 Autoimmune Polyglandular Syndrome I Whitaker syndrome autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy disease_ontology DOID:0050167 autoimmune polyendocrine syndrome type 1 An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. url:https://rarediseases.info.nih.gov/diseases/8466/autoimmune-polyglandular-syndrome-type-1 sn:IEDB A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. GARD:6225 disease_ontology DOID:0050169 cutaneous lupus erythematosus A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927537/ sn:IEDB A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. disease_ontology DOID:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. url:https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. disease_ontology DOID:0050194 Argentine hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. url:http://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever url:http://www.jstor.org/stable/30129873?seq=1 A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Orthohantavirus puumalaense, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. disease_ontology DOID:0050201 nephropathia epidemica A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Orthohantavirus puumalaense, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. url:https://www.ncbi.nlm.nih.gov/pubmed/1349231 url:https://www.ncbi.nlm.nih.gov/pubmed/2574903 url:https://www.ncbi.nlm.nih.gov/pubmed/2902106 A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. ICD10CM:G70.80 ICD9CM:358.3 MESH:D015624 NCI:C3155 SNOMEDCT_US_2023_03_01:230688006 UMLS_CUI:C0022972 Eaton-Lambert syndrome LEMS Lambert-Eaton syndrome disease_ontology DOID:0050214 Lambert-Eaton myasthenic syndrome A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. url:http://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. GARD:683 MESH:C536369 disease_ontology DOID:0050256 angiostrongyliasis A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. url:https://en.wikipedia.org/wiki/Angiostrongyliasis A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge. ICD10CM:A59.00 MESH:D014247 NCI:C35083 urogenital trichomonas disease_ontology DOID:0050269 Trichomonas vaginalis trichomoniasis A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge. url:http://en.wikipedia.org/wiki/Trichomoniasis A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx. disease_ontology DOID:0050270 Trichomonas tenax trichomoniasis A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4222 url:http://www.ncbi.nlm.nih.gov/sites/entrez/20427914 A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences. OMIM:144700 disease_ontology DOID:0050387 OMIM mapping confirmed by DO. [SN]. nonpapillary renal cell carcinoma A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences. url:https://www.ncbi.nlm.nih.gov/pubmed/2921777 url:https://www.ncbi.nlm.nih.gov/pubmed/8415591 A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes. GARD:9884 ICD10CM:C93.3 ICDO:9946/3 MESH:D054429 NCI:C9233 OMIM:607785 SNOMEDCT_US_2023_03_01:445227008 UMLS_CUI:C0349639 disease_ontology DOID:0050458 OMIM mapping confirmed by DO. [SN]. juvenile myelomonocytic leukemia A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes. url:https://rarediseases.org/rare-diseases/juvenile-myelomonocytic-leukemia/ A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1 (HTLV-1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. GARD:13103 ICD10CM:C91.5 ICDO:9827/3 MESH:D015459 NCI:C3184 SNOMEDCT_US_2023_03_01:77430005 UMLS_CUI:C0023493 Adult T-cell leukemia/lymphoma (HTLV-1 positive) adult T-cell leukemia disease_ontology DOID:0050523 adult T-cell leukemia/lymphoma A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1 (HTLV-1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. url:http://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C3184 A thyroid gland medullary carcinoma that has_material_basis_in autosomal dominant inheritance. MESH:C536911 OMIM:155240 THYROID CARCINOMA, FAMILIAL MEDULLARY disease_ontology DOID:0050547 OMIM mapping confirmed by DO. [SN]. familial medullary thyroid carcinoma A thyroid gland medullary carcinoma that has_material_basis_in autosomal dominant inheritance. url:https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia url:https://www.omim.org/entry/155240 An intestinal disease characterized by inflammation located in all parts of digestive tract. EFO:0003767 KEGG:05321 MESH:D015212 NCI:C3138 OMIM:PS266600 SNOMEDCT_US_2023_03_01:155759008 UMLS_CUI:C0021390 disease_ontology DOID:0050589 Xref MGI. OMIM mapping confirmed by DO. [SN]. inflammatory bowel disease An intestinal disease characterized by inflammation located in all parts of digestive tract. url:http://en.wikipedia.org/wiki/Inflammatory_bowel_disease url:http://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908 A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat. DOID:10076 ICD10CM:B68.1 ICD9CM:123.2 SNOMEDCT_US_2023_03_01:69163003 UMLS_CUI:C0152073 disease_ontology Beef tapeworm infection Infection by Taeniarhynchus saginatus Taenia saginata infectious disease DOID:0050596 taeniasis A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat. url:http://en.wikipedia.org/wiki/Taeniasis A tuberculosis that occurs at body sites other than the lung. disease_ontology DOID:0050598 extrapulmonary tuberculosis A tuberculosis that occurs at body sites other than the lung. url:https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated. Askin tumor Askin tumour Askin's tumour disease_ontology DOID:0050608 Askin's tumor An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated. url:https://en.wikipedia.org/wiki/Askin%27s_tumor An in situ carcinoma of the oral cavity that is located_in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma. disease_ontology DOID:0050610 oral cavity carcinoma in situ An in situ carcinoma of the oral cavity that is located_in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma. url:https://www.dermnetnz.org/topics/carcinoma-in-situ-of-oral-cavity/ An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma. disease_ontology DOID:0050611 pharynx carcinoma in situ An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/pharyngeal-cancer An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma. disease_ontology DOID:0050612 gallbladder carcinoma in situ An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma. url:https://en.wikipedia.org/wiki/Gallbladder_cancer url:https://www.cancer.org/cancer/gallbladder-cancer/detection-diagnosis-staging/staging.html An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma. disease_ontology DOID:0050613 bile duct carcinoma in situ An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma. url:https://en.wikipedia.org/wiki/Cholangiocarcinoma An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma. disease_ontology DOID:0050614 bronchus carcinoma in situ An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma. url:https://www.ncbi.nlm.nih.gov/pubmed/10858385 An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. disease_ontology DOID:0050615 respiratory system cancer An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. url:http://en.wikipedia.org/wiki/Respiratory_tract_neoplasm A respiratory system cancer that is located_in the paranasal sinuses. DOID:1354 DOID:2442 DOID:2765 DOID:2767 DOID:4689 MESH:D010255 NCI:C6014 NCI:C6017 NCI:C6018 NCI:C6019 NCI:C8193 SNOMEDCT_US_2023_03_01:1255092002 UMLS_CUI:C0280334 UMLS_CUI:C0854995 UMLS_CUI:C1335336 UMLS_CUI:C1335337 UMLS_CUI:C1335340 Epidermoid carcinoma of the paranasal sinus Mucoepidermoid carcinoma of Accessory sinus adenoid cystic carcinoma of Accessory sinus paranasal sinus adenocarcinoma paranasal sinus adenoid cystic carcinoma paranasal sinus mucoepidermoid carcinoma paranasal sinus squamous cell carcinoma disease_ontology adenoid cystic carcinoma of paranasal sinus squamous cell carcinoma of paranasal sinus DOID:0050619 paranasal sinus cancer A respiratory system cancer that is located_in the paranasal sinuses. url:http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1 A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis. disease_ontology DOID:0050620 infiltrating renal pelvis transitional cell carcinoma A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis. url:https://en.wikipedia.org/wiki/Transitional_cell_carcinoma An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm. disease_ontology DOID:0050621 respiratory system benign neoplasm An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm. url:http://en.wikipedia.org/wiki/Respiratory_system An organ system benign neoplasm that is located_in reproductive system organs. disease_ontology DOID:0050622 reproductive organ benign neoplasm An organ system benign neoplasm that is located_in reproductive system organs. url:http://en.wikipedia.org/wiki/Reproductive_system A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas. disease_ontology DOID:0050623 bladder benign neoplasm A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1398414/ An organ system benign neoplasm located_in gastrointestinal tract organs. disease_ontology DOID:0050624 gastrointestinal system benign neoplasm An organ system benign neoplasm located_in gastrointestinal tract organs. url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract A hepatobiliary benign neoplasm located_in the biliary tract. DOID:4609 NCI:C4441 SNOMEDCT_US_2023_03_01:126855001 UMLS_CUI:C0345913 extrahepatic bile duct neoplasm neoplasm of extrahepatic bile ducts tumor of the extrahepatic bile duct disease_ontology DOID:0050625 biliary tract benign neoplasm A hepatobiliary benign neoplasm located_in the biliary tract. url:http://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. gastrointestinal neuroendocrine tumour malignant gastrointestinal neuroendocrine tumor malignant gastrointestinal neuroendocrine tumour disease_ontology DOID:0050626 gastrointestinal neuroendocrine tumor A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. url:http://en.wikipedia.org/wiki/Neuroendocrine_tumor url:http://www.cancer.gov/dictionary?CdrID=44904 An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. DOID:0050761 GARD:656 ICD10CM:E85.82 OMIM:105210 ORDO:85447 ATTR amyloidosis ATTRm amyloidosis Amyloidosis, hereditary, transthyretin-related Corino de Andrade's disease Familial transthyretin amyloidosis TTR amyloidosis familial amyloid polyneuropathy paramyloidosis transthyretin-related hereditary amyloidosis disease_ontology DOID:0050638 OMIM mapping confirmed by DO. [SN]. transthyretin amyloidosis An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. url:http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis url:http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis url:http://www.ncbi.nlm.nih.gov/books/NBK1194/ url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451 url:http://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25 url:https://www.ncbi.nlm.nih.gov/books/NBK1194/ url:https://www.ncbi.nlm.nih.gov/pubmed/19372706 A breast cancer that develops from breast tissue in females. snadendla 2011-06-15T02:48:20Z disease_ontology DOID:0050671 female breast cancer A breast cancer that develops from breast tissue in females. url:https://en.wikipedia.org/wiki/Breast_cancer url:https://www.ncbi.nlm.nih.gov/pubmed/24703317 url:https://www.ncbi.nlm.nih.gov/pubmed/25002350 A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. snadendla 2011-06-13T01:25:14Z DOID:7137 ICDO:8041/3 NCI:C4099 SNOMEDCT_US_2023_03_01:5958006 UMLS_CUI:C0334239 Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma disease_ontology DOID:0050685 small cell carcinoma A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. url:http://en.wikipedia.org/wiki/Small_cell_carcinoma A cancer that is classified based on the organ it starts in. snadendla 2011-06-13T03:28:33Z MESH:D009371 disease_ontology DOID:0050686 organ system cancer A cancer that is classified based on the organ it starts in. url:https://www.cancer.gov/types/by-body-location A cancer that is classified by the type of cell from which it is derived. snadendla 2011-06-13T03:28:50Z disease_ontology DOID:0050687 cell type cancer A cancer that is classified by the type of cell from which it is derived. url:http://en.wikipedia.org/wiki/Cancer A large intestine cancer that is located_in the terminal part of the large intestine. snadendla 2011-06-14T01:34:36Z disease_ontology DOID:0050688 anal canal cancer A large intestine cancer that is located_in the terminal part of the large intestine. url:http://en.wikipedia.org/wiki/Anal_canal A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura. snadendla 2011-06-27T09:57:44Z disease_ontology DOID:0050695 malignant pleural solitary fibrous tumor A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura. url:https://www.ncbi.nlm.nih.gov/pubmed/17075563 A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. lschriml 2012-01-03T02:54:11Z ICD10CM:I42 ICD9CM:425 ICD9CM:425.9 MESH:D009202 NCI:C34830 NCI:C53654 SNOMEDCT_US_2023_03_01:266301006 SNOMEDCT_US_2023_03_01:89461002 SNOMEDCT_US_2023_03_01:89600009 UMLS_CUI:C0033141 UMLS_CUI:C0036529 UMLS_CUI:C0878544 Cardiomyopathies disease_ontology DOID:0050700 MESH:D009202 added from NeuroDevNet [WAK]. cardiomyopathy A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. url:http://en.wikipedia.org/wiki/Cardiomyopathy url:http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. lschriml 2012-07-24T12:47:31Z disease_ontology DOID:0050735 X-linked monogenic disease A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. url:http://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. lschriml 2012-07-24T12:51:47Z disease_ontology DOID:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. url:http://ghr.nlm.nih.gov/glossary=autosomaldominant url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns url:http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. lschriml 2012-07-24T12:51:47Z disease_ontology DOID:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns url:http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. lschriml 2012-07-24T04:45:53Z disease_ontology DOID:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. url:http://ghr.nlm.nih.gov/glossary=autosomaldominant url:http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. lschriml 2012-09-18T01:56:52Z NK-T cell lymphoma mature T-cell and natural killer cell lymphoma disease_ontology DOID:0050743 mature T-cell and NK-cell lymphoma A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. url:http://www.cancer.gov/dictionary?CdrID=393800 url:http://www.cancer.gov/dictionary?CdrID=44062 url:https://www.ncbi.nlm.nih.gov/pubmed/21919697 A non-Hodgkin lymphoma involving aberrant T-cells. lschriml 2012-09-18T01:57:40Z ICDO:9714/3 NCI:C3720 disease_ontology DOID:0050744 anaplastic large cell lymphoma A non-Hodgkin lymphoma involving aberrant T-cells. url:http://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body. lschriml 2012-09-18T01:58:25Z GARD:3178 ICDO:9680/3 MESH:D016403 NCI:C80280 DLBCL disease_ontology DOID:0050745 diffuse large B-cell lymphoma A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body. url:http://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C148392 url:https://www.ncbi.nlm.nih.gov/pubmed/28487884 A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. lschriml 2012-09-18T02:00:45Z GARD:6969 ICDO:9673/3 MESH:D020522 disease_ontology DOID:0050746 mantle cell lymphoma A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. url:http://en.wikipedia.org/wiki/Mantle_cell_lymphoma A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes. lschriml 2012-09-18T02:00:45Z ICDO:9699/3 MESH:D018442 marginal zone B-cell lymphoma marginal zone lymphoma disease_ontology DOID:0050748 marginal zone lymphoma A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes. url:http://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma url:http://www.cancer.gov/dictionary?CdrID=562554 A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. lschriml 2012-09-18T02:01:49Z GARD:7368 disease_ontology DOID:0050749 peripheral T-cell lymphoma A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. url:http://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. lschriml 2012-09-18T02:03:06Z NCI:C4663 disease_ontology DOID:0050750 splenic marginal zone lymphoma A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. url:http://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. lschriml 2012-09-18T02:05:41Z ICDO:9831/3 NCI:C4664 Large granular lymphocytic leukaemia Large granular lymphocytic leukemia T-cell large granular lymphocyte leukaemia disease_ontology DOID:0050751 T-cell large granular lymphocyte leukemia A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. url:http://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure. lschriml 2013-02-21T11:40:58Z GARD:7385 ICDO:8700/3 MESH:D010673 OMIM:171300 phaeochromocytoma disease_ontology DOID:0050771 pheochromocytoma An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure. url:https://en.wikipedia.org/wiki/Pheochromocytoma url:https://rarediseases.info.nih.gov/diseases/7385/pheochromocytoma url:https://www.mayoclinic.org/diseases-conditions/pheochromocytoma/symptoms-causes/syc-20355367 url:https://www.omim.org/entry/171300 A pheochromocytoma that arises in extraadrenal sympathetic ganglia. lschriml 2013-02-21T11:51:57Z ICDO:8680/3 MESH:D010235 NCI:C3308 OMIM:115310 OMIM:168000 OMIM:601650 OMIM:605373 OMIM:614165 OMIM:PS168000 SNOMEDCT_US_2023_03_01:302833002 UMLS_CUI:C0030421 chemodectoma glomus body tumor disease_ontology DOID:0050773 Xref MGI. paraganglioma A pheochromocytoma that arises in extraadrenal sympathetic ganglia. url:https://en.wikipedia.org/wiki/Paraganglioma url:https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. lschriml 2013-12-02T12:40:57Z disease_ontology DOID:0050803 glioblastoma classical subtype A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes url:http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475 url:https://www.ncbi.nlm.nih.gov/pubmed/20129251 url:https://www.ncbi.nlm.nih.gov/pubmed/23029035 A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. lschriml 2013-12-02T12:40:57Z disease_ontology DOID:0050804 glioblastoma proneural subtype A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes url:https://www.ncbi.nlm.nih.gov/pubmed/20129251 url:https://www.ncbi.nlm.nih.gov/pubmed/23029035 A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. lschriml 2013-12-02T12:40:57Z disease_ontology DOID:0050805 glioblastoma mesenchymal subtype A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes url:https://www.ncbi.nlm.nih.gov/pubmed/20129251 url:https://www.ncbi.nlm.nih.gov/pubmed/23029035 A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons. lschriml 2013-12-02T12:40:57Z disease_ontology DOID:0050806 glioblastoma neural subtype A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons. url:http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes url:https://www.ncbi.nlm.nih.gov/pubmed/20129251 url:https://www.ncbi.nlm.nih.gov/pubmed/23029035 A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. lschriml 2014-02-12T01:35:05Z ICD10CM:I44.3 ICD9CM:426.10 MESH:D054537 NCI:C26703 SNOMEDCT_US_2023_03_01:58547007 UMLS_CUI:C0004245 AV block disease_ontology DOID:0050820 atrioventricular block MESH:D054537 A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. url:http://en.wikipedia.org/wiki/Atrioventricular_block A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. lschriml 2014-02-12T01:53:42Z disease_ontology DOID:0050825 endocardium disease A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. url:http://en.wikipedia.org/wiki/Endocardium A vascular disease that is located_in an artery. lschriml 2014-02-12T03:08:35Z disease_ontology DOID:0050828 artery disease A vascular disease that is located_in an artery. url:http://en.wikipedia.org/wiki/Artery#Pathology A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. lschriml 2014-02-18T12:20:15Z disease_ontology DOID:0050829 pericardium disease A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. url:http://en.wikipedia.org/wiki/Pericardium An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential. lschriml 2014-04-15T03:26:13Z disease_ontology DOID:0050849 periampullary adenoma An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244941/ An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum. lschriml 2014-05-05T03:14:49Z disease_ontology DOID:0050860 colorectal adenoma An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum. url:https://en.wikipedia.org/wiki/Colorectal_adenoma A colorectal carcinoma that derives_from epithelial cells of glandular origin. lschriml 2014-05-05T03:16:55Z NCI:C5105 SNOMEDCT_US_2023_03_01:408645001 UMLS_CUI:C1319315 disease_ontology DOID:0050861 colorectal adenocarcinoma A colorectal carcinoma that derives_from epithelial cells of glandular origin. url:http://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma url:http://en.wikipedia.org/wiki/Adenocarcinoma A head and neck squamous cell carcinoma that is located_in the tongue. lschriml 2014-05-12T02:38:44Z NCI:C4648 SNOMEDCT_US_2023_03_01:276952000 UMLS_CUI:C0349566 disease_ontology DOID:0050865 tongue squamous cell carcinoma A head and neck squamous cell carcinoma that is located_in the tongue. url:http://en.wikipedia.org/wiki/Squamous_cell_carcinoma An oral cavity cancer that has_material_basis_in squamous cells. lschriml 2014-05-12T02:45:04Z GARD:7263 mouth squamous cell carcinoma disease_ontology DOID:0050866 oral squamous cell carcinoma An oral cavity cancer that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. lschriml 2014-06-25T05:07:35Z disease_ontology DOID:0050868 hepatocellular adenoma A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. url:https://en.wikipedia.org/wiki/Hepatocellular_adenoma An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body. lschriml 2014-06-25T05:08:30Z ICDO:8261/0 disease_ontology DOID:0050869 villous adenoma An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/villous-adenoma A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. lschriml 2014-06-25T05:10:52Z bronchioalveolar carcinoma disease_ontology DOID:0050870 pulmonary adenocarcinoma in situ A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. url:http://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue. lschriml 2014-06-25T05:14:03Z ICDO:8810/0 MESH:D005350 disease_ontology DOID:0050871 fibroma MESH:D005350 A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue. url:https://en.wikipedia.org/wiki/Fibroma A lung large cell carcinoma that derives_from neuroendocrine cells. lschriml 2014-06-25T05:17:11Z ICDO:8013/3 disease_ontology DOID:0050872 large cell neuroendocrine carcinoma A lung large cell carcinoma that derives_from neuroendocrine cells. url:https://www.ncbi.nlm.nih.gov/pubmed/15999058 A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). lschriml 2014-06-25T05:24:10Z GARD:2356 ICDO:9690/3 MESH:D008224 OMIM:151430 disease_ontology DOID:0050873 follicular lymphoma A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). url:http://en.wikipedia.org/wiki/Follicular_lymphoma url:http://www.cancer.gov/dictionary?CdrID=428287 A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. lschriml 2014-08-14T03:29:17Z Synucleinopathies alpha Synucleinopathies disease_ontology DOID:0050890 synucleinopathy A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. url:http://en.wikipedia.org/wiki/Synucleinopathies An adrenal adenoma that is a benign tumor of the adrenal cortex. lschriml 2014-09-04T01:54:59Z ICDO:8370/0 adrenocortical adenoma disease_ontology DOID:0050891 adrenal cortical adenoma An adrenal adenoma that is a benign tumor of the adrenal cortex. url:http://en.wikipedia.org/wiki/Adrenocortical_adenoma A malignant pheochromocytoma that is characterized by overproduction of adrenaline. lschriml 2014-09-11T01:01:57Z disease_ontology DOID:0050892 adrenal gland pheochromocytoma A malignant pheochromocytoma that is characterized by overproduction of adrenaline. url:http://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma url:http://en.wikipedia.org/wiki/Pheochromocytoma url:http://www.cancer.gov/cancertopics/types/pheochromocytoma A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. lschriml 2014-09-11T01:53:07Z disease_ontology DOID:0050893 gallbladder adenoma A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. url:http://en.wikipedia.org/wiki/Adenoma A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. lschriml 2014-09-11T02:44:50Z GARD:5747 ICDO:9310/0 MESH:D000564 disease_ontology DOID:0050894 ameloblastoma MESH:D000564 A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. url:http://en.wikipedia.org/wiki/Ameloblastoma A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. lschriml 2014-09-11T02:46:51Z disease_ontology DOID:0050895 bone ameloblastoma A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. url:http://en.wikipedia.org/wiki/Ameloblastoma A bone carcinoma that derives_from squamous epithelial cells. lschriml 2014-09-11T02:50:46Z disease_ontology DOID:0050896 bone squamous cell carcinoma A bone carcinoma that derives_from squamous epithelial cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A chondrosarcoma that is located_in bone. lschriml 2014-09-11T02:55:07Z disease_ontology DOID:0050897 bone chondrosarcoma A chondrosarcoma that is located_in bone. url:http://en.wikipedia.org/wiki/Chondrosarcoma A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. lschriml 2014-09-11T03:42:42Z disease_ontology DOID:0050898 phalanx chondroma A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. url:http://en.wikipedia.org/wiki/Chondroma A brain stem cancer that begins in the lower part of the brain on the floor of the skull. lschriml 2014-10-06T14:23:29Z disease_ontology DOID:0050899 brain stem medulloblastoma A brain stem cancer that begins in the lower part of the brain on the floor of the skull. url:http://en.wikipedia.org/wiki/Medulloblastoma A spinal chordoma that is located_in the sacrum. lschriml 2014-10-06T14:25:16Z disease_ontology DOID:0050900 sacrum chordoma A spinal chordoma that is located_in the sacrum. url:http://en.wikipedia.org/wiki/Sacrum url:http://www.cancer.gov/dictionary?CdrID=45297 A brain oligodendroglioma located_in the corpus callosum. lschriml 2014-10-06T14:26:18Z disease_ontology DOID:0050901 corpus callosum oligodendroglioma A brain oligodendroglioma located_in the corpus callosum. url:http://en.wikipedia.org/wiki/Corpus_callosum url:http://en.wikipedia.org/wiki/Oligodendroglioma url:http://www.cancer.gov/dictionary?CdrID=46257 An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. lschriml 2014-10-06T14:36:37Z DOID:0060105 DOID:168 DOID:3858 DOID:4981 GARD:7005 ICDO:9470/3 MESH:D008527 MESH:D018242 NCI:C27294 NCI:C3222 NCI:C3716 OMIM:155255 ORDO:616 SNOMEDCT_US_2023_03_01:189925001 SNOMEDCT_US_2023_03_01:443333004 UMLS_CUI:C0025149 UMLS_CUI:C0206663 UMLS_CUI:C1334410 CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor disease_ontology DOID:0050902 OMIM mapping confirmed by DO. [SN]. medulloblastoma An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. url:http://en.wikipedia.org/wiki/Medulloblastoma url:http://www.cancer.gov/dictionary?CdrID=45780 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306779/ A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. lschriml 2014-10-08T16:00:54Z disease_ontology DOID:0050903 parietal lobe ependymoma A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. url:http://www.cancer.gov/dictionary?CdrID=46432 A salivary gland cancer that has_material_basis_in epithelial cells. lschriml 2014-10-08T16:52:58Z disease_ontology DOID:0050904 salivary gland carcinoma A salivary gland cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Salivary_gland_neoplasm url:http://www.cancer.gov/dictionary?CdrID=45963 A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. lschriml 2014-10-09T14:18:08Z GARD:7146 disease_ontology DOID:0050905 inflammatory myofibroblastic tumor A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/ url:https://www.ncbi.nlm.nih.gov/pubmed/23091756 A sensory organ benign neoplasm that is located in the eye conjunctiva. lschriml 2014-10-13T11:47:25Z disease_ontology DOID:0050906 conjunctival nevus A sensory organ benign neoplasm that is located in the eye conjunctiva. url:http://en.wikipedia.org/wiki/Conjunctiva url:http://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. lschriml 2014-10-13T12:37:37Z disease_ontology DOID:0050907 mixed extragonadal germ cell cancer A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. url:http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed url:http://www.cancer.gov/dictionary?CdrID=444993 A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. lschriml 2014-10-13T12:51:33Z GARD:7132 ICDO:9989/3 MESH:D009190 OMIM:614286 UMLS_CUI:C2713368 disease_ontology DOID:0050908 myelodysplastic syndrome A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. url:http://en.wikipedia.org/wiki/Myelodysplastic_syndrome url:http://www.cancer.gov/dictionary?CdrID=45266 A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production. lschriml 2014-10-13T14:17:40Z ICDO:9699/3 NCI:C3898 OMIM:137245 MALT lymphoma MALT lymphoma of the dura mucosa-associated lymphoid tissue lymphoma disease_ontology DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production. url:http://www.cancer.gov/dictionary?CdrID=45774 url:http://www.cancerresearchuk.org/about-cancer/non-hodgkin-lymphoma/types/malt A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. lschriml 2014-10-13T14:41:01Z caecum adenoma disease_ontology DOID:0050910 cecum adenoma A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Adenoma An appendix cancer that has_material_basis_in neurodendocrine cells. lschriml 2014-10-13T14:45:41Z appendix carcinoid endocrine tumour disease_ontology DOID:0050911 appendix carcinoid tumor An appendix cancer that has_material_basis_in neurodendocrine cells. url:http://en.wikipedia.org/wiki/Carcinoid url:http://www.cancer.gov/dictionary?CdrID=44233 A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. lschriml 2014-10-13T14:56:27Z disease_ontology DOID:0050912 colon adenoma A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Colorectal_adenoma url:http://www.cancer.gov/dictionary?CdrID=46217 A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. lschriml 2014-10-13T15:00:10Z disease_ontology DOID:0050913 large intestine adenocarcinoma A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. url:http://www.cancer.gov/dictionary?CdrID=46216 An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. lschriml 2014-10-13T15:07:10Z disease_ontology DOID:0050914 large intestine adenoma An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. url:http://en.wikipedia.org/wiki/Adenoma An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. lschriml 2014-10-13T15:09:51Z NCI:C5546 rectum adenoma disease_ontology DOID:0050915 rectal adenoma An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Adenoma A mucoepidermoid carcinoma located_in the bronchus. lschriml 2014-10-13T15:13:54Z disease_ontology DOID:0050916 bronchus mucoepidermoid carcinoma A mucoepidermoid carcinoma located_in the bronchus. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. lschriml 2014-10-13T15:36:11Z disease_ontology DOID:0050917 lung combined type small cell adenocarcinoma A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. url:http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma url:http://www.cancer.gov/dictionary?CdrID=45327 url:http://www.cancer.gov/dictionary?CdrID=46216 A vaginal cancer that has_material_basis_in epithelial cells. lschriml 2014-10-21T11:37:19Z disease_ontology DOID:0050918 vaginal carcinoma A vaginal cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A mucoepidermoid carcinoma located_in the trachea. lschriml 2014-10-21T11:42:42Z disease_ontology DOID:0050919 trachea mucoepidermoid carcinoma A mucoepidermoid carcinoma located_in the trachea. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma A tonsil cancer that has_material_basis_in squamous cells. lschriml 2014-10-21T11:48:00Z disease_ontology DOID:0050920 tonsil squamous cell carcinoma A tonsil cancer that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A pharynx cancer that has_material_basis_in squamous cells. lschriml 2014-10-21T11:54:00Z disease_ontology DOID:0050921 pharynx squamous cell carcinoma A pharynx cancer that has_material_basis_in squamous cells. url:http://en.wikipedia.org/wiki/Squamous-cell_carcinoma A gastrointestinal system cancer that has_material_basis_in epithelial cells. lschriml 2014-10-21T11:56:36Z disease_ontology DOID:0050922 gastrointestinal carcinoma A gastrointestinal system cancer that has_material_basis_in epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands. lschriml 2014-10-21T12:26:31Z SETTLE tumor SETTLE tumour spindle epithelial tumour with thymus-like differentiation tumour disease_ontology DOID:0050923 spindle epithelial tumor with thymus-like differentiation tumor A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands. url:http://www.pathologyoutlines.com/topic/thyroidsettle.html url:http://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext url:https://www.ncbi.nlm.nih.gov/pubmed/19417583 url:https://www.ncbi.nlm.nih.gov/pubmed/2050369 A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm. lschriml 2014-10-21T12:38:23Z disease_ontology DOID:0050924 striated muscle rhabdoid tumor A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm. url:http://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour url:http://www.cancer.gov/dictionary?CdrID=46139 A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine. lschriml 2014-10-21T12:58:08Z intestinal carcinoid tumour OMIM:114900 disease_ontology DOID:0050925 small intestine carcinoid neuroendocrine tumor A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine. url:http://en.wikipedia.org/wiki/Carcinoid A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. lschriml 2014-10-21T13:00:15Z disease_ontology DOID:0050926 jejunal adenocarcinoma A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. url:http://en.wikipedia.org/wiki/Adenocarcinoma A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. lschriml 2014-10-21T13:02:15Z disease_ontology DOID:0050927 duodenum adenoma A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. url:http://en.wikipedia.org/wiki/Adenoma An ovarian cancer that has_material_basis_in melanoctyes. lschriml 2014-10-21T13:27:44Z disease_ontology DOID:0050928 ovarian melanoma An ovarian cancer that has_material_basis_in melanoctyes. url:http://en.wikipedia.org/wiki/Melanoma url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/ url:https://www.ncbi.nlm.nih.gov/pubmed/15166669 A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. lschriml 2014-10-21T13:51:49Z disease_ontology DOID:0050929 mucosal melanoma A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. lschriml 2014-10-21T14:04:40Z disease_ontology DOID:0050930 sublingual gland adenoid cystic carcinoma A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. lschriml 2014-10-21T14:09:29Z disease_ontology DOID:0050931 parotid gland adenoid cystic carcinoma A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. url:http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma url:http://en.wikipedia.org/wiki/Parotid_gland A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells. lschriml 2014-10-21T15:13:36Z disease_ontology DOID:0050932 lung mucoepidermoid carcinoma A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells. url:http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. lschriml 2014-10-21T15:51:41Z disease_ontology DOID:0050933 ovarian serous carcinoma An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. url:http://en.wikipedia.org/wiki/Serous_carcinoma An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. lschriml 2014-10-21T15:54:52Z clear-cell ovarian carcinoma disease_ontology DOID:0050934 ovarian clear cell carcinoma An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. url:http://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma An extracranial neuroblastoma that has_material_basis_in immature nerve cells. lschriml 2014-10-21T16:02:01Z disease_ontology DOID:0050935 cervical neuroblastoma An extracranial neuroblastoma that has_material_basis_in immature nerve cells. url:http://en.wikipedia.org/wiki/Neuroblastoma url:http://link.springer.com/article/10.1007%2Fs12070-007-0083-5 url:http://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487 url:https://www.ncbi.nlm.nih.gov/pubmed/15390353 url:https://www.ncbi.nlm.nih.gov/pubmed/9262064 A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. lschriml 2014-10-22T10:25:45Z disease_ontology DOID:0050936 extra-adrenal pheochromocytoma A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. url:http://en.wikipedia.org/wiki/Pheochromocytoma A retroperitoneal cancer that has_material_basis_in immature nerve cells. lschriml 2014-10-22T11:18:01Z disease_ontology DOID:0050937 retroperitoneal neuroblastoma A retroperitoneal cancer that has_material_basis_in immature nerve cells. url:http://en.wikipedia.org/wiki/Neuroblastoma url:http://en.wiktionary.org/wiki/retroperitoneal A breast carcinoma that derives_from breast lobules (milk glands). lschriml 2014-10-22T13:05:34Z ICDO:8520/3 NCI:C3771 disease_ontology DOID:0050938 breast lobular carcinoma A breast carcinoma that derives_from breast lobules (milk glands). url:http://cancergenome.nih.gov/cancersselected/breastlobular url:http://www.cancer.gov/dictionary?CdrID=426416 A uterine corpus cancer that is derives_from the inner lining of the uterus. lschriml 2014-10-22T14:26:22Z disease_ontology DOID:0050939 uterine corpus endometrial carcinoma A uterine corpus cancer that is derives_from the inner lining of the uterus. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5165063/ An endocervical carcinoma that derives_from epithelial cells of glandular origin. lschriml 2014-10-24T15:51:48Z disease_ontology DOID:0050940 endocervical adenocarcinoma An endocervical carcinoma that derives_from epithelial cells of glandular origin. url:https://www.ncbi.nlm.nih.gov/pubmed/12207781 An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. GARD:6337 disease_ontology DOID:0060000 infective endocarditis An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. url:http://en.wikipedia.org/wiki/Endocarditis url:http://en.wikipedia.org/wiki/Infective_endocarditis An autoimmune hypersensitivity disease located_in the central nervous system. disease_ontology DOID:0060004 autoimmune disease of central nervous system An autoimmune hypersensitivity disease located_in the central nervous system. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. disease_ontology DOID:0060005 autoimmune disease of endocrine system An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system. disease_ontology DOID:0060029 autoimmune disease of exocrine system An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat. disease_ontology DOID:0060030 autoimmune disease of eyes, ear, nose and throat An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. disease_ontology DOID:0060031 autoimmune disease of gastrointestinal tract An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. disease_ontology DOID:0060032 autoimmune disease of musculoskeletal system An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. disease_ontology DOID:0060033 autoimmune disease of peripheral nervous system An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. disease_ontology DOID:0060036 intrinsic cardiomyopathy A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. url:https://en.wikipedia.org/wiki/Cardiomyopathy An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. disease_ontology DOID:0060039 autoimmune disease of skin and connective tissue An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. disease_ontology DOID:0060049 autoimmune disease of urogenital tract An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. disease_ontology DOID:0060050 autoimmune disease of blood An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. disease_ontology DOID:0060051 autoimmune disease of cardiovascular system An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance. allergy to gluten gluten allergic reaction disease_ontology DOID:0060057 gluten allergy A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance. url:https://acaai.org/allergies/types/food-allergies/types-food-allergy/wheat-gluten-allergy A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. DOID:1033 DOID:353 ICD10CM:C85.9 ICDO:9590/3 MESH:D008223 NCI:C3208 NCI:C7065 SNOMEDCT_US_2023_03_01:118600007 SNOMEDCT_US_2023_03_01:414628006 UMLS_CUI:C0024299 UMLS_CUI:C0598798 lymphoid cancer disease_ontology DOID:0060058 lymphoma A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. url:http://en.wikipedia.org/wiki/Lymphoma url:http://www.lymphoma.org/site/pp.asp?c=bkLTKaOQLmK8E&b=6300161 url:http://www.nlm.nih.gov/medlineplus/lymphoma.html A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. ICD10CM:C85.9 ICDO:9591/3 MESH:D008228 NCI:C3211 OMIM:605027 ORDO:547 SNOMEDCT_US_2023_03_01:118601006 UMLS_CUI:C0024305 disease_ontology DOID:0060060 OMIM mapping confirmed by DO. [LS]. non-Hodgkin lymphoma A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. url:http://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma url:http://www.cancer.gov/dictionary?CdrID=45148 A non-Hodgkin's lymphoma that has_material_basis_in a mutation of T cells. GARD:6226 MESH:D016410 NCI:C3467 cutaneous T cell lymphoma cutaneous T-cell lymphoma disease_ontology DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma A non-Hodgkin's lymphoma that has_material_basis_in a mutation of T cells. url:http://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. lschriml 2011-05-11T12:18:41Z disease_ontology DOID:0060071 pre-malignant neoplasm A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. url:http://en.wikipedia.org/wiki/Neoplasm A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. lschriml 2011-05-11T12:18:41Z disease_ontology DOID:0060072 benign neoplasm A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. url:http://en.wikipedia.org/wiki/Benign_neoplasm url:http://www.nlm.nih.gov/medlineplus/benigntumors.html An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. lschriml 2011-05-11T01:05:14Z disease_ontology DOID:0060073 lymphatic system cancer An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. url:http://en.wikipedia.org/wiki/Lymphatic_system A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells. lschriml 2011-06-08T12:19:28Z disease_ontology DOID:0060074 ductal carcinoma in situ A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells. url:https://www.breastcancer.org/symptoms/types/dcis url:https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=ductal+carcinoma A breast cancer that is characterized by the presence of estrogen receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060075 estrogen-receptor positive breast cancer A breast cancer that is characterized by the presence of estrogen receptors. url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html url:https://www.ncbi.nlm.nih.gov/pubmed/25471040 A breast cancer that is characterized by the absence of estrogen receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060076 estrogen-receptor negative breast cancer A breast cancer that is characterized by the absence of estrogen receptors. url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html url:https://www.ncbi.nlm.nih.gov/pubmed/25471040 A breast cancer that is characterized by the presence of progesterone receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060077 progesterone-receptor positive breast cancer A breast cancer that is characterized by the presence of progesterone receptors. url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html url:https://www.ncbi.nlm.nih.gov/pubmed/25471040 A breast cancer that is characterized by the absence of progesterone receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060078 progesterone-receptor negative breast cancer A breast cancer that is characterized by the absence of progesterone receptors. url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html url:https://www.ncbi.nlm.nih.gov/pubmed/25471040 A breast cancer that is characterized by the presence of Her2 receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060079 Her2-receptor positive breast cancer A breast cancer that is characterized by the presence of Her2 receptors. url:https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html url:https://www.sciencedirect.com/science/article/pii/S1470204511703369 A breast cancer that is characterized by the absence of Her2 receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060080 Her2-receptor negative breast cancer A breast cancer that is characterized by the absence of Her2 receptors. url:https://www.ncbi.nlm.nih.gov/pubmed/25682076 A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors. lschriml 2011-06-08T12:23:02Z disease_ontology DOID:0060081 triple-receptor negative breast cancer A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors. url:https://www.ncbi.nlm.nih.gov/pubmed/22826413 A thoracic benign neoplasm that is characterized by lack of malignancy. lschriml 2011-06-08T01:02:29Z disease_ontology DOID:0060082 breast benign neoplasm A thoracic benign neoplasm that is characterized by lack of malignancy. url:https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions.html An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. lschriml 2011-06-08T01:11:18Z ICDO:9392/3 disease_ontology DOID:0060083 immune system cancer An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. url:http://en.wikipedia.org/wiki/Immune_system A benign neoplasm that is classified by the type of cell or tissue from which it is derived. lschriml 2011-07-14T11:59:48Z disease_ontology DOID:0060084 cell type benign neoplasm A benign neoplasm that is classified by the type of cell or tissue from which it is derived. url:http://en.wikipedia.org/wiki/Benign_tumor A benign neoplasm that is classified by the organ system from which it is arising from. lschriml 2011-07-14T12:12:23Z disease_ontology DOID:0060085 organ system benign neoplasm A benign neoplasm that is classified by the organ system from which it is arising from. url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.07d&code=C367 A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system. lschriml 2011-07-14T12:20:52Z disease_ontology DOID:0060086 female reproductive organ benign neoplasm A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system. url:https://www.ncbi.nlm.nih.gov/books/NBK9559/ A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system. lschriml 2011-07-14T12:20:52Z disease_ontology DOID:0060087 male reproductive organ benign neoplasm A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system. url:https://www.ncbi.nlm.nih.gov/books/NBK9556/ A female reproductive organ benign neoplasm that is located_in the vestibular gland. lschriml 2011-07-14T12:36:54Z disease_ontology DOID:0060088 vestibular gland benign neoplasm A female reproductive organ benign neoplasm that is located_in the vestibular gland. url:https://en.wikipedia.org/wiki/Bartholin%27s_gland url:https://link.springer.com/chapter/10.1007/978-3-642-74828-8_4 An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. lschriml 2011-07-14T01:45:15Z disease_ontology DOID:0060089 endocrine organ benign neoplasm An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. url:http://en.wikipedia.org/wiki/Endocrine_system A nervous system benign neoplasm that is characterized by lack of malignancy. lschriml 2011-07-14T01:45:15Z disease_ontology DOID:0060090 central nervous system benign neoplasm A nervous system benign neoplasm that is characterized by lack of malignancy. url:https://www.cancer.gov/types/brain/patient/adult-brain-treatment-pdq An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. lschriml 2011-07-14T01:45:15Z disease_ontology DOID:0060091 cardiovascular organ benign neoplasm An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. url:http://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system An organ system benign neoplasm located_in the immune system organs. lschriml 2011-07-14T01:58:49Z disease_ontology DOID:0060092 immune system organ benign neoplasm An organ system benign neoplasm located_in the immune system organs. url:http://en.wikipedia.org/wiki/Immune_system A connective tissue benign neoplasm that is located_in bone. lschriml 2011-07-15T01:34:59Z disease_ontology DOID:0060094 bone benign neoplasm A connective tissue benign neoplasm that is located_in bone. url:http://en.wikipedia.org/wiki/Bone_tumor A female reproductive organ benign neoplasm that is located_in the uterus. lschriml 2011-07-15T01:42:11Z DOID:0060113 disease_ontology DOID:0060095 uterine benign neoplasm A female reproductive organ benign neoplasm that is located_in the uterus. url:https://en.wikipedia.org/wiki/Uterine_fibroid url:https://www.ncbi.nlm.nih.gov/books/NBK9559/ A nervous system benign neoplasm that is located_in a sensory organ. lschriml 2011-07-15T01:45:26Z disease_ontology DOID:0060096 sensory organ benign neoplasm A nervous system benign neoplasm that is located_in a sensory organ. url:http://en.wikipedia.org/wiki/Sensory_system An organ system benign neoplam that is located_in the thoracic cavity. lschriml 2011-07-15T01:55:57Z disease_ontology DOID:0060097 thoracic benign neoplasm An organ system benign neoplam that is located_in the thoracic cavity. url:http://en.wikipedia.org/wiki/Thoracic_cavity A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas. lschriml 2011-07-15T02:14:40Z ICDO:9200/0 MESH:D018215 disease_ontology DOID:0060098 osteoblastoma A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas. url:https://en.wikipedia.org/wiki/Osteoblastoma An organ system benign neoplasm that is located_in the muscular and skeletal organs. lschriml 2011-07-15T02:28:52Z disease_ontology DOID:0060099 musculoskeletal system benign neoplasm An organ system benign neoplasm that is located_in the muscular and skeletal organs. url:http://en.wikipedia.org/wiki/Musculoskeletal_system An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. lschriml 2011-07-15T02:30:51Z DOID:0060124 skeletal system cancer disease_ontology DOID:0060100 musculoskeletal system cancer An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. url:http://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma. lschriml 2011-07-20T01:40:49Z disease_ontology DOID:0060102 cartilage cancer A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma. url:https://en.wikipedia.org/wiki/Cartilage_tumor A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm. lschriml 2011-07-21T02:24:10Z ICDO:9473/3 NCI:C5398 CNS embryonal tumour, NEC/NOS central nervous system primitive neuroectodermal neoplasm disease_ontology DOID:0060103 central nervous system embryonal tumor A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm. url:http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151465 url:https://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. lschriml 2011-07-21T02:28:01Z disease_ontology DOID:0060104 cerebellar medulloblastoma A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. url:http://en.wikipedia.org/wiki/Medulloblastoma A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. lschriml 2011-07-21T05:39:28Z disease_ontology DOID:0060106 brain meningioma A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. url:https://en.wikipedia.org/wiki/Meningioma A brain cancer that has_material_basis_in glial cells. lschriml 2011-07-22T12:42:50Z lower grade glioma disease_ontology DOID:0060108 brain glioma A brain cancer that has_material_basis_in glial cells. url:http://cancergenome.nih.gov/cancersselected/lowergradeglioma url:http://www.cancer.gov/dictionary?CdrID=45700 A female reproductive organ benign neoplasm that is located_in the vulva. lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060109 vulvar benign neoplasm A female reproductive organ benign neoplasm that is located_in the vulva. url:https://www.ncbi.nlm.nih.gov/pubmed/25220103 A female reproductive organ benign neoplasm that is located_in the cervix. lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060110 cervical benign neoplasm A female reproductive organ benign neoplasm that is located_in the cervix. url:https://www.ncbi.nlm.nih.gov/pubmed/8400047 A female reproductive organ benign neoplasm that is located_in the fallopian tube. lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060111 fallopian tube benign neoplasm A female reproductive organ benign neoplasm that is located_in the fallopian tube. url:http://www.glowm.com/section_view/item/8 A female reproductive organ benign neoplasm that is located_in the ovary. lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060112 ovarian benign neoplasm A female reproductive organ benign neoplasm that is located_in the ovary. url:https://www.ncbi.nlm.nih.gov/pubmed/24992780 A female reproductive organ benign neoplasm that is located_in the vagina. lschriml 2011-07-25T11:50:50Z disease_ontology DOID:0060114 vaginal benign neoplasm A female reproductive organ benign neoplasm that is located_in the vagina. url:https://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5 An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. lschriml 2011-07-25T12:47:43Z disease_ontology DOID:0060115 nervous system benign neoplasm An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. url:http://en.wikipedia.org/wiki/Nervous_system A nervous system cancer that is located in the sensory system. lschriml 2011-07-25T01:51:56Z disease_ontology DOID:0060116 sensory system cancer A nervous system cancer that is located in the sensory system. url:http://en.wikipedia.org/wiki/Sensory_system A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. lschriml 2011-07-25T02:20:33Z disease_ontology DOID:0060117 peritoneal benign neoplasm A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. url:http://en.wikipedia.org/wiki/Peritoneal A gastrointestinal system cancer that is located_in the pharynx. lschriml 2011-07-27T01:26:34Z MESH:D010610 NCI:C3325 SNOMEDCT_US_2023_03_01:126685009 UMLS_CUI:C0031347 pharyngeal neoplasm pharynx neoplasm disease_ontology pharyngeal cancer DOID:0060119 pharynx cancer A gastrointestinal system cancer that is located_in the pharynx. url:http://en.wikipedia.org/wiki/Pharynx An organ system benign neoplasm located_in the integumentary system organs. lschriml 2011-07-27T01:49:44Z disease_ontology DOID:0060121 integumentary system benign neoplasm An organ system benign neoplasm located_in the integumentary system organs. url:http://en.wikipedia.org/wiki/Integumentary_system An organ system cancer that is located_in the skin, hair and nails. lschriml 2011-07-27T02:31:34Z disease_ontology DOID:0060122 integumentary system cancer An organ system cancer that is located_in the skin, hair and nails. url:http://en.wikipedia.org/wiki/Integumentary_system A musculoskeletal system benign neoplasm that is located_in connective tissue. lschriml 2011-07-27T02:35:57Z DOID:177 MESH:D012983 NCI:C3377 SNOMEDCT_US_2023_03_01:126600002 UMLS_CUI:C0037579 mesenchymal tissue neoplasm neoplasm of soft tissue neoplasm of soft tissues soft tissue benign neoplasm tumor of the soft tissue disease_ontology DOID:0060123 connective tissue benign neoplasm A musculoskeletal system benign neoplasm that is located_in connective tissue. url:http://en.wikipedia.org/wiki/Connective_tissue_neoplasm A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. lschriml 2011-08-24T02:53:03Z disease_ontology DOID:0060158 acquired metabolic disease A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. url:http://en.wikipedia.org/wiki/Inborn_error_of_metabolism url:http://www.ncbi.nlm.nih.gov/mesh/68008659 An inflammatory bowel disease that involves inflammation located_in colon. emitraka 2014-09-12T14:31:45Z EFO:0003872 ICD10CM:K52.9 MESH:D003092 NCI:C26723 SNOMEDCT_US_2023_03_01:64226004 UMLS_CUI:C0009319 disease_ontology DOID:0060180 colitis An inflammatory bowel disease that involves inflammation located_in colon. url:http://en.wikipedia.org/wiki/Colitis A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. emitraka 2014-11-05T09:11:16Z lymph node adenoid cystic cancer disease_ontology DOID:0060219 lymph node adenoid cystic carcinoma A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193158/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6021008/ A gastrointestinal system disease that is located_in the gallbladder. emitraka 2015-02-02T15:48:08Z DOID:0000000 ICD10CM:K82.9 ICD9CM:575.9 MESH:D005705 NCI:C34631 OMIM:609918 OMIM:609919 OMIM:611465 SNOMEDCT_US_2023_03_01:155807008 UMLS_CUI:C0016977 disease_ontology DOID:0060262 Xref MGI. gallbladder disease A gastrointestinal system disease that is located_in the gallbladder. url:http://en.wikipedia.org/wiki/Gallbladder_disease url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C34631&ns=NCI_Thesaurus&key=n1027527578&b=1&n=null An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. emitraka 2015-02-24T16:50:50Z GARD:538 ICD10CM:C92.4 MESH:D015473 NCI:C3182 OMIM:612376 ORDO:520 SNOMEDCT_US_2023_03_01:28950004 UMLS_CUI:C0023487 acute myeloblastic leukaemia type 3 acute myeloblastic leukemia type 3 acute myeloid leukaemia M3 acute myeloid leukemia M3 acute promyelocytic leukaemia disease_ontology DOID:0060318 acute promyelocytic leukemia An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. url:http://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia url:http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia An embryonal rhabdomyosarcoma located in the parameningeal region. emitraka 2015-05-14T14:32:27Z disease_ontology DOID:0060338 parameningeal embryonal rhabdomyosarcoma An embryonal rhabdomyosarcoma located in the parameningeal region. url:https://www.ncbi.nlm.nih.gov/pubmed/10717216 url:https://www.ncbi.nlm.nih.gov/pubmed/23021437 A chromosomal disease that has_material_basis_in partial deletion of chromosomes. elvira 2015-09-28T15:48:41Z disease_ontology DOID:0060388 chromosomal deletion syndrome A chromosomal disease that has_material_basis_in partial deletion of chromosomes. url:https://en.wikipedia.org/wiki/Chromosomal_deletion_syndrome url:https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome url:https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/ url:https://www.ncbi.nlm.nih.gov/books/NBK23758/ A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. elvira 2015-10-02T15:19:23Z disease_ontology DOID:0060429 chromosomal duplication syndrome A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. url:https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/ A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. elvira 2015-11-04T14:54:36Z NCI:C45716 SNOMEDCT_US_2023_03_01:733922002 UMLS_CUI:C1707291 nuclear protein in testis midline carcinoma disease_ontology DOID:0060463 NUT midline carcinoma A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. url:https://en.wikipedia.org/wiki/NUT_midline_carcinoma url:https://omim.org/entry/608749 url:https://omim.org/entry/608963 url:https://www.ncbi.nlm.nih.gov/pubmed/21221870 url:https://www.ncbi.nlm.nih.gov/pubmed/25685583 url:https://www.ncbi.nlm.nih.gov/pubmed/26378054 url:https://www.ncbi.nlm.nih.gov/pubmed/26402248 A viral infectious disease that has_material_basis_in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain. ICD10CM:A92.8 MESH:D000071243 Zika virus disease disease_ontology DOID:0060478 Zika fever A viral infectious disease that has_material_basis_in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain. url:http://ecdc.europa.eu/en/healthtopics/zika_virus_infection/factsheet-health-professionals/Pages/factsheet_health_professionals.aspx url:http://www.who.int/mediacentre/factsheets/zika/en/ url:https://en.wikipedia.org/wiki/Zika_fever url:https://www.cdc.gov/zika/about/ An egg allergy triggered by Gallus gallus eggs. Gallus gallus egg allergy disease_ontology DOID:0060492 chicken egg allergy An egg allergy triggered by Gallus gallus eggs. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5001 url:https://en.wikipedia.org/wiki/Egg_allergy A food allergy triggered by Crustacea or Mollusca. disease_ontology DOID:0060495 shellfish allergy A food allergy triggered by Crustacea or Mollusca. url:https://www.ncbi.nlm.nih.gov/pubmed/28027402 url:https://www.ncbi.nlm.nih.gov/pubmed/29858102 url:https://www.ncbi.nlm.nih.gov/pubmed/30893087 An allergic disease that is located_in the respiratory tract. airway allergy disease_ontology DOID:0060496 respiratory allergy An allergic disease that is located_in the respiratory tract. url:https://www.ncbi.nlm.nih.gov/pubmed/25006500 url:https://www.ncbi.nlm.nih.gov/pubmed/28187789 A respiratory allergy triggered by pollen. disease_ontology DOID:0060497 pollen allergy A respiratory allergy triggered by pollen. url:https://acaai.org/allergies/types-allergies/pollen-allergy url:https://www.aafa.org/pollen-allergy/ A pollen allergy triggered by Phleum pratense pollen. disease_ontology DOID:0060498 Timothy grass allergy A pollen allergy triggered by Phleum pratense pollen. url:https://www.ncbi.nlm.nih.gov/pubmed/25685162 An autoimmune disease of central nervous system caused by an autoimmune response. disease_ontology DOID:0060499 autoimmune neuropathy autoimmune neuropathy An autoimmune disease of central nervous system caused by an autoimmune response. url:https://www.dukehealth.org/pediatric-treatments/autoimmune-brain-disorders url:https://www.ncbi.nlm.nih.gov/pubmed/28601415 An allergic disease that is triggered by a drug. disease_ontology DOID:0060500 drug allergy An allergic disease that is triggered by a drug. url:https://www.mayoclinic.org/diseases-conditions/drug-allergy/symptoms-causes/syc-20371835 An allergic disease that is triggered by a metal. disease_ontology DOID:0060501 metal allergy An allergic disease that is triggered by a metal. url:https://www.ncbi.nlm.nih.gov/pubmed/27228132 An allergic disease that is located_in the gastrointestinal tract. disease_ontology DOID:0060502 gastrointestinal allergy An allergic disease that is located_in the gastrointestinal tract. url:https://www.ncbi.nlm.nih.gov/pubmed/18721321 A food allergy triggered by a plant fruit product. disease_ontology DOID:0060503 fruit allergy A food allergy triggered by a plant fruit product. url:https://en.wikipedia.org/wiki/Fruit_allergy url:https://www.ncbi.nlm.nih.gov/pubmed/26022876 url:https://www.ncbi.nlm.nih.gov/pubmed/26549334 A fruit allergy triggered by Malus domestica plant fruit food product. Malus domestica fruit allergy disease_ontology DOID:0060504 apple allergy A fruit allergy triggered by Malus domestica plant fruit food product. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=2 url:https://www.ncbi.nlm.nih.gov/pubmed/26549334 url:https://www.ncbi.nlm.nih.gov/pubmed/29130794 A fruit allergy triggered by Prunus armeniaca plant fruit food product. Prunus armeniaca fruit allergy disease_ontology DOID:0060505 apricot allergy A fruit allergy triggered by Prunus armeniaca plant fruit food product. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=410 url:https://www.ncbi.nlm.nih.gov/pubmed/30611476 A fruit allergy triggered by Prunus avium plant fruit food product. Prunus avium fruit allergy disease_ontology DOID:0060506 cherry allergy A fruit allergy triggered by Prunus avium plant fruit food product. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=19 url:https://www.ncbi.nlm.nih.gov/pubmed/26549334 url:https://www.ncbi.nlm.nih.gov/pubmed/30093847 A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. Ziziphus mauritiana fruit allergy disease_ontology DOID:0060507 Indian plum allergy A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. url:https://en.wikipedia.org/wiki/Fruit_allergy url:https://www.ncbi.nlm.nih.gov/pubmed/14976388 url:https://www.ncbi.nlm.nih.gov/pubmed/24696647 A fruit allergy triggered by Citrus sinensis plant fruit food product. Citrus sinensis fruit allergy disease_ontology DOID:0060508 orange allergy A fruit allergy triggered by Citrus sinensis plant fruit food product. url:https://www.ncbi.nlm.nih.gov/pubmed/26549334 url:https://www.ncbi.nlm.nih.gov/pubmed/30099793 A fruit allergy triggered by Cucumis melo plant fruit food product. Cucumis melo fruit allergy disease_ontology DOID:0060509 melon allergy A fruit allergy triggered by Cucumis melo plant fruit food product. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=67 url:https://www.ncbi.nlm.nih.gov/pubmed/26549334 A fruit allergy triggered by Prunus persica plant fruit food product. Prunus persica fruit allergy disease_ontology DOID:0060510 peach allergy A fruit allergy triggered by Prunus persica plant fruit food product. url:https://www.ncbi.nlm.nih.gov/pubmed/30672059 A fruit allergy triggered by Prunus domestica plant fruit food product. Prunus domestica fruit allergy disease_ontology DOID:0060511 plum allergy A fruit allergy triggered by Prunus domestica plant fruit food product. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=27 A fruit allergy triggered by Solanum lycopersicum plant fruit food product. Solanum lycopersicum fruit allergy disease_ontology DOID:0060512 tomato allergy A fruit allergy triggered by Solanum lycopersicum plant fruit food product. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=52 url:https://www.ncbi.nlm.nih.gov/pubmed/12001794 url:https://www.ncbi.nlm.nih.gov/pubmed/23653972 A food allergy triggered by fish. disease_ontology DOID:0060513 fish allergy A food allergy triggered by fish. url:https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy url:https://www.ncbi.nlm.nih.gov/pubmed/24795722 url:https://www.ncbi.nlm.nih.gov/pubmed/30323632 A fish allergy triggered by Gadus morhua. Gadus morhua fish allergy disease_ontology DOID:0060514 Atlantic cod allergy A fish allergy triggered by Gadus morhua. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5005 url:https://www.ncbi.nlm.nih.gov/pubmed/24795722 url:https://www.ncbi.nlm.nih.gov/pubmed/30323632 A fish allergy triggered by Salmo salar. Salmo salar fish allergy disease_ontology DOID:0060515 Atlantic salmon allergy A fish allergy triggered by Salmo salar. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5022 url:https://www.ncbi.nlm.nih.gov/pubmed/24795722 url:https://www.ncbi.nlm.nih.gov/pubmed/30323632 A fish allergy triggered by Cyprinus carpio. Cyprinus carpio fish allergy disease_ontology DOID:0060516 carp allergy A fish allergy triggered by Cyprinus carpio. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5018 url:https://www.ncbi.nlm.nih.gov/pubmed/24795722 url:https://www.ncbi.nlm.nih.gov/pubmed/30323632 A fish allergy triggered by Danio rerio. Danio rerio allergy disease_ontology DOID:0060517 zebrafish allergy A fish allergy triggered by Danio rerio. url:https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy A fish allergy triggered by Oncorhynchus mykiss. Oncorhynchus mykiss allergy disease_ontology DOID:0060518 rainbow trout allergy A fish allergy triggered by Oncorhynchus mykiss. url:https://www.ncbi.nlm.nih.gov/pubmed/24795722 url:https://www.ncbi.nlm.nih.gov/pubmed/26111497 url:https://www.ncbi.nlm.nih.gov/pubmed/30323632 A drug allergy triggered by a beta-lactam. disease_ontology DOID:0060519 beta-lactam allergy A drug allergy triggered by a beta-lactam. url:https://en.wikipedia.org/wiki/%CE%92-lactam_antibiotic#Allergy/hypersensitivity url:https://www.hopkinsguides.com/hopkins/view/Johns_Hopkins_ABX_Guide/540622/all/Beta_lactam_allergy url:https://www.ncbi.nlm.nih.gov/pubmed/31009700 A beta-lactam allergy triggered by penicillin. disease_ontology DOID:0060520 penicillin allergy A beta-lactam allergy triggered by penicillin. url:https://en.wikipedia.org/wiki/Side_effects_of_penicillin#Allergies_and_cross_sensitivities url:https://www.mayoclinic.org/diseases-conditions/penicillin-allergy/symptoms-causes/syc-20376222 A milk allergy triggered by Bos taurus milk. Bos taurus milk allergy disease_ontology DOID:0060521 cow milk allergy A milk allergy triggered by Bos taurus milk. url:https://www.ncbi.nlm.nih.gov/pubmed/31083388 A milk allergy triggered by Capra hircus milk. Capra hircus milk allergy disease_ontology DOID:0060522 goat milk allergy A milk allergy triggered by Capra hircus milk. url:https://www.ncbi.nlm.nih.gov/pubmed/17002714 url:https://www.ncbi.nlm.nih.gov/pubmed/24372684 A shellfish allergy triggered by Mollusca. disease_ontology DOID:0060523 mollusc allergy A shellfish allergy triggered by Mollusca. url:https://www.ncbi.nlm.nih.gov/pubmed/28027402 url:https://www.ncbi.nlm.nih.gov/pubmed/29858102 url:https://www.ncbi.nlm.nih.gov/pubmed/30893087 A shellfish allergy triggered by Crustacea. disease_ontology DOID:0060524 crustacean allergy A shellfish allergy triggered by Crustacea. url:https://www.ncbi.nlm.nih.gov/pubmed/28027402 url:https://www.ncbi.nlm.nih.gov/pubmed/29858102 url:https://www.ncbi.nlm.nih.gov/pubmed/30893087 A crustacean allergy triggered by Farfantepenaeus aztecus. Farfantepenaeus aztecus allergy disease_ontology DOID:0060525 brown shrimp allergy A crustacean allergy triggered by Farfantepenaeus aztecus. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5027 url:https://www.ncbi.nlm.nih.gov/pubmed/28027402 url:https://www.ncbi.nlm.nih.gov/pubmed/29858102 A crustacean allergy triggered by Scylla paramamosain. Scylla paramamosain allergy green mud crab allergy disease_ontology DOID:0060526 crab allergy A crustacean allergy triggered by Scylla paramamosain. url:https://www.ncbi.nlm.nih.gov/pubmed/25728640 url:https://www.ncbi.nlm.nih.gov/pubmed/29858102 A crustacean allergy triggered by Fenneropenaeus indicus. Fenneropenaeus indicus allergy disease_ontology DOID:0060527 Indian prawn allergy A crustacean allergy triggered by Fenneropenaeus indicus. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5029 url:https://www.ncbi.nlm.nih.gov/pubmed/29858102 A crustacean allergy triggered by Penaeus monodon. Penaeus monodon allergy disease_ontology DOID:0060528 tiger prawn allergy A crustacean allergy triggered by Penaeus monodon. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5028 url:https://www.ncbi.nlm.nih.gov/pubmed/22135598 url:https://www.ncbi.nlm.nih.gov/pubmed/29178679 A crustacean allergy triggered by Litopenaeus vannamei. Litopenaeus vannamei allergy disease_ontology DOID:0060529 white shrimp allergy A crustacean allergy triggered by Litopenaeus vannamei. url:https://www.ncbi.nlm.nih.gov/pubmed/20471069 url:https://www.ncbi.nlm.nih.gov/pubmed/28027402 url:https://www.ncbi.nlm.nih.gov/pubmed/29858102 A mollusc allergy triggered by snails. disease_ontology DOID:0060530 snail allergy A mollusc allergy triggered by snails. url:http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5010 url:https://www.ncbi.nlm.nih.gov/pubmed/15591808 A snail allergy triggered by the horned turban snail. Turbo cornutus allergy disease_ontology DOID:0060531 horned turban snail allergy A snail allergy triggered by the horned turban snail. url:https://farrp.unl.edu/informallmollshellfish An allergic disease that is triggered by latex. disease_ontology DOID:0060532 latex allergy An allergic disease that is triggered by latex. url:https://en.wikipedia.org/wiki/Latex_allergy url:https://www.ncbi.nlm.nih.gov/pubmed/27010091 An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. ICDO:8576/3 NCI:C66950 disease_ontology DOID:0060534 hepatoid adenocarcinoma An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. url:https://en.wikipedia.org/wiki/Adenocarcinoma A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. breast tumor luminal luminal breast cancer NCI:C53554 UMLS_CUI:C3642345 Luminal A Breast Carcinoma disease_ontology DOID:0060548 luminal breast carcinoma A A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/ A bone disease that is located_in the spine. disease_ontology DOID:0060564 spinal disease A bone disease that is located_in the spine. url:https://en.wikipedia.org/wiki/Spinal_disease An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. NCI:C9143 B-cell adult acute lymphocytic leukaemia adult B acute lymphoblastic leukaemia adult B acute lymphoblastic leukemia adult B-lymphoblastic leukaemia adult B-lymphoblastic leukemia adult b-cell acute lymphoblastic leukaemia adult b-cell acute lymphoblastic leukemia adult b-cell lymphocytic leukaemia adult b-cell lymphocytic leukemia disease_ontology DOID:0060592 B-cell adult acute lymphocytic leukemia An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9143 A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. DOID:8747 ICD10CM:C92.2 ICD9CM:205.2 ICDO:9876/3 MESH:D054438 NCI:C3519 ORDO:98824 SNOMEDCT_US_2023_03_01:128826001 UMLS_CUI:C1292772 aCML atypical CML atypical chronic myeloid leukaemia atypical chronic myeloid leukaemia BCR-ABL1 negative atypical chronic myeloid leukemia BCR-ABL1 negative subacute myeloid leukemia disease_ontology DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C3519 url:https://www.ncbi.nlm.nih.gov/pubmed/29226717 A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain. ICD10CM:Q28.2 MESH:D002538 OMIM:108010 ORDO:46724 UMLS_CUI:C0007772 cerebral arteriovenous malformation intracranial arteriovenous malformation disease_ontology DOID:0060688 arteriovenous malformations of the brain A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain. url:https://www.ncbi.nlm.nih.gov/pubmed/7193302 A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). OMIM:600080 familial CML-like syndrome disease_ontology DOID:0060761 familial chronic myelocytic leukemia-like syndrome A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). url:https://www.ncbi.nlm.nih.gov/pubmed/8086739 A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome. GARD:12765 ICD10CM:D47.7 OMIM:159595 ORDO:420611 MST TAM transient abnormal myelopoiesis transient leukemia transient leukemia of Down syndrome transient myeloproliferative disease disease_ontology DOID:0060888 transient myeloproliferative syndrome A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/792759 url:https://www.ncbi.nlm.nih.gov/pubmed/6229618 A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. DOID:0050747 GARD:7872 ICD10CM:C88.0 ICD9CM:273.3 ICDO:9671/3 MESH:D008258 NCI:C115212 NCI:C80307 OMIM:153600 OMIM:610430 ORDO:33226 SNOMEDCT_US_2023_03_01:35562000 UMLS_CUI:C0024419 UMLS_CUI:C2936755 Waldenstroem's macroglobulinemia Waldenstrom Macroglobulinemia lymphoplasmacytic lymphoma with IgM gammopathy disease_ontology DOID:0060901 Lymphoplasmacytic lymphoma, also known as Waldenstrom macroglobulinemia. lymphoplasmacytic lymphoma MESH:D008258 A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. url:https://www.ncbi.nlm.nih.gov/pubmed/10632755 A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. Fabaceae allergy disease_ontology DOID:0060904 legume allergy A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. url:https://en.wikipedia.org/wiki/Legume A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells. disease_ontology DOID:0070003 blastoma A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells. url:https://en.wikipedia.org/wiki/Blastoma A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages. disease_ontology DOID:0070004 myeloid neoplasm A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages. url:http://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf url:https://www.ncbi.nlm.nih.gov/pubmed/19357394 A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma. GARD:9331 NCI:C7955 ORDO:33402 pediatric hepatocellular carcinoma disease_ontology DOID:0070322 childhood hepatocellular carcinoma A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma. url:https://www.ncbi.nlm.nih.gov/pubmed/17714939 url:https://www.ncbi.nlm.nih.gov/pubmed/28144610 url:https://www.ncbi.nlm.nih.gov/pubmed/30254403 A childhood leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. ICDO:9861/3 NCI:C9160 childhood acute myeloid leukaemia paediatric acute myeloid leukaemia pediatric acute myeloid leukemia disease_ontology DOID:0070323 childhood acute myeloid leukemia A childhood leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. url:http://www.danafarberbostonchildrens.org/conditions/leukemia-and-lymphoma/acute-myelogenous-leukemia.aspx url:https://en.wikipedia.org/wiki/Acute_myeloid_leukemia url:https://www.cancer.gov/types/leukemia/patient/child-aml-treatment-pdq A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood. ICDO:9724/3 ORDO:364033 SNOMEDCT_US_2023_03_01:721311006 UMLS_CUI:C4303422 EBV-positive T-cell lymphoproliferative disorder of childhood systemic EBV-positive T-cell lymphoma of childhood disease_ontology DOID:0070324 systemic Epstein-Barr virus positive T-cell lymphoma of childhood A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood. url:https://en.wikipedia.org/wiki/Epstein-Barr_virus-associated_lymphoproliferative_diseases url:https://www.ncbi.nlm.nih.gov/pubmed/30931288 An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults. GARD:9368 NCI:C118822 malignant pediatric adrenal gland pheochromocytoma disease_ontology DOID:0070325 malignant childhood adrenal gland pheochromocytoma An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults. url:https://www.ncbi.nlm.nih.gov/pubmed/28324046 url:https://www.ncbi.nlm.nih.gov/pubmed/28752085 A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia. NCI:C136825 atypical spitz nevus disease_ontology DOID:0070326 spitzoid melanoma A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377413/ url:https://www.ncbi.nlm.nih.gov/pubmed/25666674 url:https://www.ncbi.nlm.nih.gov/pubmed/25834363 A skin melanoma that arises from a congenital melanocytic nevus. GARD:2469 ICDO:8761/3 NCI:C48613 UMLS_CUI:C1711221 Malignant melanoma in congenital melanocytic nevus melanocytic nevi disease_ontology DOID:0070327 melanoma in congenital melanocytic nevus A skin melanoma that arises from a congenital melanocytic nevus. url:https://www.ncbi.nlm.nih.gov/pubmed/27517357 url:https://www.ncbi.nlm.nih.gov/pubmed/28078671 A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation. NCI:C7956 ORDO:210159 SNOMEDCT_US_2023_03_01:1197204009 UMLS_CUI:C0279607 adult hepatoma adult primary hepatocellular carcinoma disease_ontology DOID:0070328 adult hepatocellular carcinoma A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation. url:https://www.cancer.gov/types/liver/patient/about-adult-liver-cancer-pdq url:https://www.ncbi.nlm.nih.gov/pubmed/25979220 url:https://www.ncbi.nlm.nih.gov/pubmed/28761617 url:https://www.ncbi.nlm.nih.gov/pubmed/30254403 A periperal T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule. disease_ontology DOID:0070333 breast implant-associated anaplastic large cell lymphoma A periperal T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule. url:https://www.fda.gov/medical-devices/breast-implants/questions-and-answers-about-breast-implant-associated-anaplastic-large-cell-lymphoma-bia-alcl url:https://www.ncbi.nlm.nih.gov/pubmed/31166611 url:https://www.ncbi.nlm.nih.gov/pubmed/31642879 A food allergy triggered by a vegetable food product. disease_ontology DOID:0070334 vegetable allergy A food allergy triggered by a vegetable food product. url:https://farrp.unl.edu/informallvegetables A vegetable allergy triggered by celery (Apium graveolens). disease_ontology DOID:0070335 celery allergy A vegetable allergy triggered by celery (Apium graveolens). url:https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?lvl=0&id=4045 A renal cell carcinoma that develops in the renal medulla. GARD:13175 NCI:C7572 ORDO:319319 SNOMEDCT_US_2023_10_01:765095002 UMLS_CUI:C4049328 RMC kidney medullary carcinoma medullary carcinoma of the kidney medullary renal cell carcinoma renal medullary carcinoma disease_ontology DOID:0070475 SMARCB1-deficient renal medullary carcinoma GARD:13175 NCI:C7572 ORDO:319319 SNOMEDCT_US_2023_10_01:765095002 UMLS_CUI:C4049328 A renal cell carcinoma that develops in the renal medulla. url:https://pubmed.ncbi.nlm.nih.gov/28697319/ url:https://pubmed.ncbi.nlm.nih.gov/35853783/ url:https://pubmed.ncbi.nlm.nih.gov/36645398/ A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. DOID:1290 ICD10CM:M89.9 MESH:D001847 SNOMEDCT_US_2023_03_01:76069003 UMLS_CUI:C0005940 disease_ontology skeletal disease DOID:0080001 bone disease A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. url:http://en.wikipedia.org/wiki/Bone_disease A X-linked monogenic disease that has_material_basis_in recessive inheritance. disease_ontology DOID:0080012 X-linked recessive disease A X-linked monogenic disease that has_material_basis_in recessive inheritance. url:https://en.wikipedia.org/wiki/X-linked_recessive_inheritance A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. disease_ontology DOID:0080014 chromosomal disease A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. url:http://en.wikipedia.org/wiki/Chromosome_abnormality url:https://www.genome.gov/about-genomics/fact-sheets/Chromosome-Abnormalities-Fact-Sheet A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. congenital disorder disease_ontology DOID:0080015 physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. url:http://en.wikipedia.org/wiki/Congenital_disorder A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs. GARD:2998 OMIM:228550 OMIM:615293 ORDO:2591 lipofibromatosis disease_ontology DOID:0080109 infantile myofibromatosis A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs. url:https://pubmed.ncbi.nlm.nih.gov/27259011/ url:https://www.ncbi.nlm.nih.gov/pubmed/23731542 An acute lymphocytic leukemia occuring during childhood. NCI:C3168 Childhood Acute Lymphoblastic Leukemia disease_ontology DOID:0080144 childhood acute lymphocytic leukemia An acute lymphocytic leukemia occuring during childhood. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.04d&ns=NCI_Thesaurus&code=C3168&key=736438179&b=1&n=null A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells. DOID:7933 NCI:C5640 UMLS_CUI:C1332997 T-cell childhood acute lymphocytic leukemia childhood precursor T-lymphoblastic lymphoma/leukemia disease_ontology DOID:0080145 childhood T-cell acute lymphoblastic leukemia A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C7953 A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells. NCI:C9140 disease_ontology DOID:0080146 childhood B-cell acute lymphoblastic leukemia A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C9140 A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites. GARD:3329 disease_ontology DOID:0080147 lymphoblastic lymphoma A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C7055 A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood. NCI:C7210 Childhood T lymphoblastic lymphoma disease_ontology DOID:0080148 T-cell childhood lymphoblastic lymphoma A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood. url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf An acute monocytic leukemia occurring in adults. NCI:C8263 disease_ontology DOID:0080149 adult acute monocytic leukemia An acute monocytic leukemia occurring in adults. url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. NCI:C84270 UMLS_CUI:C2827356 Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms disease_ontology DOID:0080164 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. url:https://www.ncbi.nlm.nih.gov/pubmed/19357394 url:https://www.ncbi.nlm.nih.gov/pubmed/23489324 A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. NCI:C84275 Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement disease_ontology DOID:0080165 myeloid and lymphoid neoplasms associated with PDGFRA rearrangement A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84275&key=n472778324&b=1&n=null A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. NCI:C84276 Myeloid and Lymphoid Neoplasms with PDGFRB Rearrangement disease_ontology DOID:0080166 myeloid and lymphoid neoplasms associated with PDGFRB rearrangement A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84276&key=n472778324&b=1&n=null A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. NCI:C84277 disease_ontology DOID:0080167 myeloid and lymphoid neoplasms associated with FGFR1 abnormalities A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84277&key=n472778324&b=1&n=null A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. disease_ontology DOID:0080182 mixed fibrolamellar hepatocellular carcinoma A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. url:https://wjso.biomedcentral.com/articles/10.1186/s12957-016-0903-8 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880064/ A colon carcinoma that is characterized by a solid growth pattern. disease_ontology DOID:0080183 medullary colon carcinoma A colon carcinoma that is characterized by a solid growth pattern. url:http://www.pathologyoutlines.com/topic/colontumormedullary.html url:https://www.ncbi.nlm.nih.gov/pubmed/10414504 url:https://www.ncbi.nlm.nih.gov/pubmed/20811712 A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin). indeterminate bronchioloalveolar carcinoma mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma disease_ontology DOID:0080184 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin). url:https://en.wikipedia.org/wiki/Adenocarcinoma_in_situ_of_the_lung url:https://www.ncbi.nlm.nih.gov/pubmed/20073606 A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. disease_ontology DOID:0080185 mucinous bronchioloalveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. url:https://www.ncbi.nlm.nih.gov/pubmed/16463270 A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. disease_ontology DOID:0080186 nonmucinous bronchioloalveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. url:https://www.ncbi.nlm.nih.gov/pubmed/17616987 A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene. ICDO:9963/3 NCI:C3179 disease_ontology DOID:0080187 chronic neutrophilic leukemia A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene. url:https://en.wikipedia.org/wiki/Chronic_neutrophilic_leukemia A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. GARD:8225 ICDO:9945/3 NCI:C3178 disease_ontology DOID:0080188 chronic myelomonocytic leukemia A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. url:https://en.wikipedia.org/wiki/Chronic_myelomonocytic_leukemia url:https://www.ncbi.nlm.nih.gov/pubmed/30367269 url:https://www.ncbi.nlm.nih.gov/pubmed/31093889 A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen. disease_ontology DOID:0080189 malignant hemangioma A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen. url:http://www.rare-cancer.org/info/hemangioendothelioma.php url:https://en.wikipedia.org/wiki/Hemangioma A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. NCI:C3800 disease_ontology DOID:0080190 malignant epithelioid hemangioendothelioma A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C3800 A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. disease_ontology DOID:0080192 relapsed/refractory diffuse large B-cell lymphoma A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. url:https://www.ncbi.nlm.nih.gov/pubmed/22160081 A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. EFO:1001951 MESH:D015179 NCI:C2955 UMLS_CUI:C0009402 disease_ontology DOID:0080199 colorectal carcinoma A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C4978 An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. GARD:5743 ICDO:8200/3 MESH:D003528 NCI:C2970 disease_ontology DOID:0080202 adenoid cystic carcinoma An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. url:http://codes.iarc.fr/code/2592 url:https://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma url:https://meshb.nlm.nih.gov/record/ui?ui=D003528 A diffuse large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis. ICD10CM:C85.2 ORDO:98838 Large cell lymphoma of the mediastinum Mediastinal diffuse large-cell lymphoma with sclerosis Primary mediastinal clear cell lymphoma of B-cell type disease_ontology DOID:0080210 primary mediastinal B-cell lymphoma A diffuse large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis. url:https://www.ncbi.nlm.nih.gov/pubmed/28318892 A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease. NCI:C8863 disease_ontology DOID:0080211 nodal marginal zone lymphoma A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C8863 url:https://www.ncbi.nlm.nih.gov/pubmed/26989202 A lipodystrophy that is characterized by complete loss of adipose tissue. disease_ontology DOID:0080298 complete generalized lipodystrophy A lipodystrophy that is characterized by complete loss of adipose tissue. url:https://rarediseases.org/rare-diseases/acquired-lipodystrophy/ A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth. Lawrence syndrome disease_ontology DOID:0080300 acquired generalized lipodystrophy A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth. url:http://www.utsouthwestern.edu/media/files/2400/Generalized-Lawrence-Syndrome.pdf url:https://www.ncbi.nlm.nih.gov/pubmed/23287278 A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces. disease_ontology DOID:0080303 mucinous lung adenocarcinoma A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces. url:https://www.ncbi.nlm.nih.gov/pubmed/15628896 A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue. disease_ontology DOID:0080304 lung mucinous cystadenocarcinoma A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue. url:https://en.wikipedia.org/wiki/Mucinous_cystadenocarcinoma_of_the_lung url:https://www.ncbi.nlm.nih.gov/pubmed/14602331 A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus. disease_ontology DOID:0080305 signet ring lung adenocarcinoma A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus. url:https://www.ncbi.nlm.nih.gov/pubmed/16463270 A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells. disease_ontology DOID:0080306 solid adenocarcinoma with mucin production A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells. url:https://www.ncbi.nlm.nih.gov/pubmed/16463270 A central nervous system benign neoplasm the is located_in the peripheral nervous system. disease_ontology DOID:0080320 peripheral nervous system benign neoplasm A central nervous system benign neoplasm the is located_in the peripheral nervous system. url:https://www.mayoclinic.org/diseases-conditions/peripheral-nerve-tumors-benign/symptoms-causes/syc-20368680 A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system. disease_ontology DOID:0080321 autonomic nervous system benign neoplasm A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system. url:https://en.wikipedia.org/wiki/Autonomic_nervous_system A squamous cell carcinoma located in the pancreas. disease_ontology DOID:0080323 pancreatic squamous cell carcinoma A squamous cell carcinoma located in the pancreas. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437439/ An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones. ICDO:8700/3 Pheochromocytoma, malignant disease_ontology DOID:0080347 malignant pheochromocytoma An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones. url:https://www.omim.org/entry/171300 A gastrointestinal system cancer that is located_in the hepatobiliary system. disease_ontology DOID:0080355 hepatobiliary system cancer A gastrointestinal system cancer that is located_in the hepatobiliary system. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461147/ A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer. disease_ontology DOID:0080364 malignant adenoma A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer. url:https://pubmed.ncbi.nlm.nih.gov/18363065/ An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium. MESH:D004714 disease_ontology DOID:0080365 endometrial hyperplasia An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium. url:https://en.wikipedia.org/wiki/Endometrial_hyperplasia A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs. disease_ontology DOID:0080366 desmoid tumor A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs. url:https://ghr.nlm.nih.gov/condition/desmoid-tumor url:https://rarediseases.org/rare-diseases/desmoid-tumor/ url:https://www.ncbi.nlm.nih.gov/pubmed/28489620 A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. ICDO:9964/3 NCI:C4563 disease_ontology DOID:0080367 chronic eosinophilic leukemia A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. url:https://ghr.nlm.nih.gov/condition/pdgfra-associated-chronic-eosinophilic-leukemia url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/chronic-eosinophilic-leukemia A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts. disease_ontology DOID:0080368 sex cord-stromal benign neoplasm A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/sex-cord-stromal-tumor A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. NCI:C4862 disease_ontology DOID:0080369 ovarian sex-cord stromal tumor A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4862&ns=ncit A sex cord-stromal benign neoplasm that arises from the ovary. NCI:C6803 disease_ontology DOID:0080370 ovarian sex cord-stromal benign neoplasm A sex cord-stromal benign neoplasm that arises from the ovary. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498422/ A sex cord-stromal benign neoplasm that arises from the testis. disease_ontology DOID:0080371 testicular sex cord-stromal benign neoplasm A sex cord-stromal benign neoplasm that arises from the testis. url:http://www.pathologyoutlines.com/topic/testissexcordgeneral.html An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells. disease_ontology DOID:0080372 epithelioid inflammatory myofibroblastic sarcoma An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells. url:https://www.ncbi.nlm.nih.gov/pubmed/21164297 A male reproductive system disease that is located_in the epididymis. disease_ontology DOID:0080373 epididymis disease A male reproductive system disease that is located_in the epididymis. url:https://en.wikipedia.org/wiki/Epididymis A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach. disease_ontology DOID:0080374 gastroesophageal cancer A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042434 A gastroesophageal cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. gastric and esophageal adenocarcinoma gastro-esophageal adenocarcinoma disease_ontology DOID:0080375 gastroesophageal adenocarcinoma A gastroesophageal cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5827797 A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation. NCI:C135017 non- squamous NSCLC disease_ontology DOID:0080521 lung non-squamous non-small cell carcinoma A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation. url:https://www.ncbi.nlm.nih.gov/pubmed/30362335 A thyroid gland carcinoma that is composed of undifferentiated cells. NCI:C3878 anaplastic thyroid carcinoma disease_ontology DOID:0080522 thyroid gland anaplastic carcinoma A thyroid gland carcinoma that is composed of undifferentiated cells. url:https://www.ncbi.nlm.nih.gov/pubmed/28707679 A thyroid gland carcinoma that derives_from epithelial cells of glandular origin. NCI:C27380 disease_ontology DOID:0080524 thyroid gland adenocarcinoma A thyroid gland carcinoma that derives_from epithelial cells of glandular origin. url:https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation. NCI:C7153 disease_ontology DOID:0080525 differentiated thyroid gland carcinoma A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7153&ns=ncit A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells. ICDO:8858/3 NCI:C3704 ORDO:99970 disease_ontology DOID:0080531 dedifferentiated liposarcoma A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211889/ url:https://www.ncbi.nlm.nih.gov/pubmed/26645460 A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex). ORDO:466962 SMARCA4-DTS disease_ontology DOID:0080532 Smarca4-deficient sarcoma of thorax A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex). url:https://ghr.nlm.nih.gov/gene/SMARCA4#conditions url:https://www.nature.com/articles/modpathol201761.pdf?origin=ppub url:https://www.ncbi.nlm.nih.gov/pubmed/26343384 A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. ICDO:8811/3 NCI:C6496 ORDO:79105 fibromyxoid sarcoma disease_ontology DOID:0080534 myxofibrosarcoma A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. url:https://www.mayoclinic.org/diseases-conditions/myxofibrosarcoma/cdc-20387740 url:https://www.ncbi.nlm.nih.gov/pubmed/27591498 A viral infectious disease that has_material_basis_in Coronavirus. disease_ontology DOID:0080599 Coronavirus infectious disease A viral infectious disease that has_material_basis_in Coronavirus. url:https://www.cdc.gov/coronavirus/ url:https://www.ncbi.nlm.nih.gov/books/NBK7782/ url:https://www.who.int/health-topics/coronavirus A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2. ICD10CM:U07.1 MESH:D000086382 NCI:C171133 SNOMEDCT_US_2023_03_01:840539006 UMLS_CUI:C5203670 2019 Novel Coronavirus (2019-nCoV) 2019-nCoV infection COVID19 SARS-CoV-2 infection Wuhan coronavirus infection Wuhan seafood market pneumonia virus infection disease_ontology DOID:0080600 COVID-19 A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2. url:https://www.cdc.gov/coronavirus/2019-ncov/about/index.html url:https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=2697049 url:https://www.ncbi.nlm.nih.gov/pubmed/?term=32007143 url:https://www.ncbi.nlm.nih.gov/pubmed/?term=32007145 url:https://www.who.int/emergencies/diseases/novel-coronavirus-2019 A benign neoplasm that derives_from germ cells. disease_ontology DOID:0080601 germ cell benign neoplasm A benign neoplasm that derives_from germ cells. url:https://en.wikipedia.org/wiki/Germ_cell_tumor A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. ICDO:9080/1 NCI:C67107 disease_ontology DOID:0080602 benign teratoma A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C67107&ns=ncit A kidney benign neoplasm that is located_in the kidney cortex. benign nephroma disease_ontology DOID:0080615 nephroma A kidney benign neoplasm that is located_in the kidney cortex. url:https://www.stjude.org/disease/nephroma.html A kidney disease that is located_in the kidney cortex. disease_ontology DOID:0080616 kidney cortex disease A kidney disease that is located_in the kidney cortex. url:https://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/blood-vessel-disorders-of-the-kidneys/cortical-necrosis-of-the-kidneys An immune system organ benign neoplasm that is located_in the lymph nodes. NCI:C3636 SNOMEDCT_US_2021_09_01:92197001 disease_ontology DOID:0080617 lymph node benign neoplasm An immune system organ benign neoplasm that is located_in the lymph nodes. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C3636&key=n1052416749&b=1&n=null A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. disease_ontology DOID:0080618 lymph node carcinoma A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:https://medlineplus.gov/ency/patientinstructions/000824.htm url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5829610/ A sensory system benign neoplasm that is located in the auditory system. NCI:C8417 disease_ontology DOID:0080619 auditory system benign neoplasm A sensory system benign neoplasm that is located in the auditory system. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.02d&ns=ncit&code=C8417&key=n1512346313&b=1&n=null A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. DOID:7061 ICDO:9836/3 NCI:C8936 SNOMEDCT_US_2023_03_01:1162660006 UMLS_CUI:C0862030 B lymphoblastic leukemia/lymphoma B-ALL precursor B lymphoblastic lymphoma/leukemia disease_ontology DOID:0080630 B-lymphoblastic leukemia/lymphoma A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. url:https://en.wikipedia.org/wiki/Precursor_B-cell_lymphoblastic_leukemia An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood. NCI:C8644 B acute lymphoblastic leukemia B-cell acute lymphocytic leukemia disease_ontology DOID:0080638 B-cell acute lymphoblastic leukemia An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood. url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/b-cell-acute-lymphoblastic-leukemia A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. disease_ontology DOID:0080639 bone sarcoma A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805807 A biliary tract benign neoplasm that is located_in the gallbladder. NCI:C4440 disease_ontology DOID:0080640 gallbladder benign neoplasm A biliary tract benign neoplasm that is located_in the gallbladder. url:https://link.springer.com/chapter/10.1007/978-3-319-12985-3_15 A tongue cancer that derives_from epithelial cells that cover the surface of the tongue. disease_ontology DOID:0080641 tongue carcinoma A tongue cancer that derives_from epithelial cells that cover the surface of the tongue. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.02d&ns=ncit&code=C4824&key=1996231099&b=1&n=null A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in MERS-CoV. disease_ontology DOID:0080642 Middle East respiratory syndrome A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in MERS-CoV. url:https://en.wikipedia.org/wiki/Middle_East_respiratory_syndrome url:https://pubmed.ncbi.nlm.nih.gov/23891402/ url:https://pubmed.ncbi.nlm.nih.gov/29495250 url:https://www.cdc.gov/coronavirus/mers/index.html url:https://www.who.int/news-room/q-a-detail/middle-east-respiratory-syndrome-coronavirus-(mers-cov) A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. ICDO:9812/3 NCI:C80331 B-ALL with BCR-ABL1 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2);BCR-ABL1 disease_ontology DOID:0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80331 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. ICDO:9813/3 NCI:C80342 B lymphoblastic leukemia/lymphoma with t(v;11q23); MLL rearranged B-ALL KMT2A rearranged B-lymphoblastic leukemia/lymphoma KMT2A rearranged B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged disease_ontology DOID:0080644 B-lymphoblastic leukemia/lymphoma MLL rearranged A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80342 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. ICDO:9814/3 NCI:C80343 B-ALL with ETV6-RUNX1 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 disease_ontology DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80343 A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. ICDO:9815/3 NCI:C80335 B-ALL with hyperdiploidy disease_ontology DOID:0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80335 A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes. ICDO:9816/3 NCI:C80338 B-ALL with hypodiploidy disease_ontology DOID:0080647 B-lymphoblastic leukemia/lymphoma with hypodiploidy A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80338 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). ICDO:9817/3 NCI:C80346 B-ALL with IL3-IGH B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) IL3-IGH disease_ontology DOID:0080648 B-lymphoblastic leukemia/lymphoma with IL3-IGH A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80346 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. ICDO:9818/3 NCI:C80347 B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) B-ALL with TCF3-PBX1 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3);TCF3-PBX1 disease_ontology DOID:0080649 B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80347 A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion. ICDO:9819/3 B lymphoblastic leukemia/lymphoma, BCR-ABL1-like B-ALL BCR-ABL1–like disease_ontology DOID:0080650 B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion. url:https://www.ncbi.nlm.nih.gov/pubmed/31069976 A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. NCI:C130039 B-ALL with iAMP21 Intrachromosomal amplification of chromosome 21 (iAMP21) disease_ontology DOID:0080651 B-lymphoblastic leukemia/lymphoma with iAMP21 A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C130039 A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. NCI:C53555 UMLS_CUI:C3642346 Luminal B Breast Carcinoma disease_ontology DOID:0080674 luminal breast carcinoma B A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/ A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system. ICDO:9385/3 NCI:C129309 diffuse intrinsic pontine glioma disease_ontology DOID:0080684 diffuse midline glioma, H3 K27M-mutant A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system. url:https://braintumor.org/wp-content/assets/WHO-Central-Nervous-System-Tumor-Classification.pdf url:https://pubmed.ncbi.nlm.nih.gov/31290035/ url:https://www.frontiersin.org/articles/10.3389/fonc.2019.00031/full A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. RAS/mitogen-activated protein kinase syndrome disease_ontology DOID:0080690 RASopathy A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. url:https://en.wikipedia.org/wiki/RASopathy url:https://www.nature.com/articles/jhg2015114 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115674/ A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent. ICDO:9475/3 NCI:C129440 disease_ontology DOID:0080702 medulloblastoma WNT activated A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent. url:https://pubmed.ncbi.nlm.nih.gov/29582169/ url:https://radiopaedia.org/articles/medulloblastoma-wnt-subgroup?lang=us A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent. NCI:C129441 disease_ontology DOID:0080703 medulloblastoma SHH activated A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent. url:https://onlinelibrary.wiley.com/doi/full/10.1002/acn3.762 url:https://pubmed.ncbi.nlm.nih.gov/29582169/ url:https://radiopaedia.org/articles/medulloblastoma-shh-subgroup?lang=us A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. ICDO:9476/3 NCI:C129442 disease_ontology DOID:0080704 medulloblastoma SHH activated and TP53 mutant A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. url:https://ascopubs.org/doi/10.1200/JCO.2012.48.5052 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490254/ A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. ICDO:9471/3 NCI:C129443 Medulloblastoma SHH-Activated TP53-Wildtype disease_ontology DOID:0080705 medulloblastoma SHH activated and TP53 wild-type A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743072/ A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent. ICDO:9477/3 NCI:C129444 disease_ontology DOID:0080706 medulloblastoma non-WNT/non-SHH A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent. url:https://pubmed.ncbi.nlm.nih.gov/30392813/ A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. NCI:C129445 disease_ontology DOID:0080707 medulloblastoma non-WNT/non-SHH group 3 A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. url:https://pubmed.ncbi.nlm.nih.gov/29427151/ url:https://pubmed.ncbi.nlm.nih.gov/30876441/ A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present. NCI:C129446 disease_ontology DOID:0080708 medulloblastoma non-WNT/non-SHH group 4 A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present. url:https://pubmed.ncbi.nlm.nih.gov/29427151/ A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19. MIS-C multisystem inflammatory disorder in children and adolescents paediatric inflammatory multisystemic syndrome disease_ontology DOID:0080711 multisystem inflammatory syndrome in children A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19. url:https://www.cdc.gov/coronavirus/2019-ncov/daily-life-coping/children/mis-c.html url:https://www.cdc.gov/mis-c/hcp/ url:https://www.cdc.gov/mis-c/index.html url:https://www.cdc.gov/mmwr/volumes/69/wr/mm6932e2.htm?s_cid=mm6932e2_x An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease. ICD10CM:M32.11 Libmann–Sachs, Endocarditis in systemic lupus erythematosus disease_ontology DOID:0080740 Libman-Sacks endocarditis An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease. url:https://pubmed.ncbi.nlm.nih.gov/25807885/ url:https://pubmed.ncbi.nlm.nih.gov/30422459/ An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes. GARD:8742 MESH:D020363 disease_ontology DOID:0080741 limbic encephalitis An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6520067/ A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining. GARD:10334 disease_ontology DOID:0080763 diffuse gastric cancer A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining. url:https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. GARD:10900 OMIM:137215 disease_ontology DOID:0080764 hereditary diffuse gastric cancer A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. url:https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer url:https://pubmed.ncbi.nlm.nih.gov/20591882/ url:https://rarediseases.info.nih.gov/diseases/10900/disease A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. NCI:C45540 Sarcomatoid carcinoma of the lung pulmonary sarcomatoid carcinoma disease_ontology DOID:0080777 lung sarcomatoid carcinoma A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C45540 url:https://pubmed.ncbi.nlm.nih.gov/28081478/ A diffuse large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. ICDO:9735/3 MESH:D000069293 NCI:C7224 disease_ontology DOID:0080779 plasmablastic lymphoma A diffuse large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467349/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430862/ An acute myeloid leukemia that is characterized by a predominant immature erythroid population. ICDO:9840/3 NCI:C8923 disease_ontology DOID:0080780 acute erythroid leukemia An acute myeloid leukemia that is characterized by a predominant immature erythroid population. url:https://en.wikipedia.org/wiki/Acute_erythroid_leukemia An endocrine organ benign neoplasm arising from the exocrine pancreas. NCI:C4613 disease_ontology DOID:0080781 benign exocrine pancreas neoplasm An endocrine organ benign neoplasm arising from the exocrine pancreas. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4613 A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. disease_ontology DOID:0080782 mucinous pancreas adenocarcinoma A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. url:https://www.nature.com/articles/s41598-018-24540-7 An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. NCI:C7972 pediatric non-Down syndrome acute megakaryoblastic leukemia disease_ontology DOID:0080794 childhood acute megakaryoblastic leukemia An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. url:https://pubmed.ncbi.nlm.nih.gov/28867167/ url:https://www.nature.com/articles/ng.3772 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7309653/ An acute myeloid leukemia that is characterized by primary differentiation to basophils. ICDO:9870/3 NCI:C3164 disease_ontology DOID:0080795 acute basophilic leukemia An acute myeloid leukemia that is characterized by primary differentiation to basophils. url:http://www.pathologyoutlines.com/topic/leukemiabasophil.html url:https://en.wikipedia.org/wiki/Acute_basophilic_leukemia An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. NCI:C122688 disease_ontology DOID:0080796 core binding factor acute myeloid leukemia An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. url:https://pubmed.ncbi.nlm.nih.gov/26980726/ A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. ICDO:9719/3 NCI:C4684 disease_ontology DOID:0080797 nasal type extranodal NK/T-cell lymphoma A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. url:https://pubmed.ncbi.nlm.nih.gov/29602763/ An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. ICDO:9898/3 NCI:C43223 disease_ontology DOID:0080798 myeloid leukemia associated with Down Syndrome An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. url:https://pubmed.ncbi.nlm.nih.gov/26910243/ url:https://pubmed.ncbi.nlm.nih.gov/31606922/ A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells. MESH:C537344 NCI:C54294 disease_ontology DOID:0080799 sinonasal undifferentiated carcinoma A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells. url:https://pubmed.ncbi.nlm.nih.gov/30806835/ A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found. NCI:C62193 disease_ontology DOID:0080800 salivary gland mucinous adenocarcinoma A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found. url:https://pubmed.ncbi.nlm.nih.gov/26908552/ A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene. MESH:D000069295 disease_ontology DOID:0080808 mammary analogue secretory carcinoma A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene. url:http://www.pathologyoutlines.com/topic/salivaryglandsmammary.html url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643951/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113190/ An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency. disease_ontology DOID:0080809 chronic asthma An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency. url:https://www.ncbi.nlm.nih.gov/books/NBK7223/ url:https://www.nhlbi.nih.gov/health-topics/asthma A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies. atopic asthma disease_ontology DOID:0080811 extrinsic asthma A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099102/ A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes). DOID:0060101 NCI:C132067 benign glioma disease_ontology DOID:0080829 low grade glioma A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes). url:http://www.danafarberbostonchildrens.org/conditions/brain-tumor/low-grade-glioma.aspx url:https://www.cancer.gov/publications/dictionaries/cancer-terms/def/glioma url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361022/ A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology. pediatric low-grade glioma disease_ontology DOID:0080830 childhood low-grade glioma A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology. url:https://pubmed.ncbi.nlm.nih.gov/23583981/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917804/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786244/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7066826/ An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily. disease_ontology DOID:0080841 pemphigoid An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily. url:https://rarediseases.org/rare-diseases/pemphigus/ A meningioma that arises within the cranial cavity. MESH:D008579 NCI:C4656 SNOMEDCT_US_2023_03_01:302820008 UMLS_CUI:C0349604 disease_ontology DOID:0080842 intracranial meningioma A meningioma that arises within the cranial cavity. url:https://pubmed.ncbi.nlm.nih.gov/17961033/ A meningioma that affects the supratentorial brain. NCI:C6971 UMLS_CUI:C1334698 disease_ontology DOID:0080843 supratentorial meningioma A meningioma that affects the supratentorial brain. url:https://pubmed.ncbi.nlm.nih.gov/26636386/ A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus. MESH:D000071698 LADA type 1.5 diabetes disease_ontology DOID:0080846 latent autoimmune diabetes in adults MESH:D000071698 A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus. url:https://pubmed.ncbi.nlm.nih.gov/29947172/ url:https://pubmed.ncbi.nlm.nih.gov/30565440/ A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields. NCI:C129327 disease_ontology DOID:0080854 anaplastic pleomorphic xanthoastrocytoma A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields. url:https://www.hindawi.com/journals/crinm/2018/6428492/ An anaplastic astrocytoma carrying IDH mutations. NCI:C185167 disease_ontology DOID:0080875 IDH-mutant anaplastic astrocytoma An anaplastic astrocytoma carrying IDH mutations. url:https://www.pathologyoutlines.com/topic/anaastroidhmutant.html An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes. ICDO:9401/3 NCI:C129291 disease_ontology DOID:0080876 IDH-wildtype anaplastic astrocytoma An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes. url:https://www.pathologyoutlines.com/topic/cnstumoranaastroIDHwild.html An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. ICDO:9445/3 NCI:C167335 disease_ontology DOID:0080877 The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas, removed previous name glioblastoma, IDH-mutant. astrocytoma, IDH-mutant, grade 4 An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. url:https://pubmed.ncbi.nlm.nih.gov/33692446/ A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes. ICDO:9440/3 NCI:C39750 disease_ontology DOID:0080878 IDH-wildtype glioblastoma A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes. url:https://www.pathologyoutlines.com/topic/cnstumortumorglioIDHwild.html A high grade glioma that has_material_basis_in mutations in the genes encoding histones. histone mutated tumour disease_ontology DOID:0080879 histone mutated tumor A high grade glioma that has_material_basis_in mutations in the genes encoding histones. url:https://www.annualreviews.org/doi/abs/10.1146/annurev-cancerbio-030617-050143 A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. ICDO:9385/3 NCI:C185371 disease_ontology DOID:0080880 diffuse glioma, H3 G34 mutant A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. url:https://pubmed.ncbi.nlm.nih.gov/30358620/ An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. disease_ontology DOID:0080881 pleomorphic xanthoastrocytoma BRAF mutant An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. url:https://www.futuremedicine.com/doi/10.2217/cns-2019-0009 An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). NCI:C129321 Oligodendroglioma, IDH-mutant and 1p/19q-codeleted anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted disease_ontology DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). url:https://www.nature.com/articles/s41598-020-68733-5 url:https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html A spinal cord ependymoma that is characterized by MYCN amplification. ICDO:9396/3 NCI:C186494 Spinal Cord Ependymoma, MYCN Amplified spinal ependymoma, MYCN disease_ontology DOID:0080888 spinal ependymoma, MYCN-amplified A spinal cord ependymoma that is characterized by MYCN amplification. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851394/ A high grade ependymoma that is located within the posterior fossa. ICDO:9391/3 disease_ontology DOID:0080889 posterior fossa ependymoma A high grade ependymoma that is located within the posterior fossa. url:https://pubmed.ncbi.nlm.nih.gov/26351223/ url:https://pubmed.ncbi.nlm.nih.gov/32502305/ A high grade ependymoma that is located within the supratentorial brain. ICDO:9391/3 disease_ontology DOID:0080890 supratentorial ependymoma A high grade ependymoma that is located within the supratentorial brain. url:https://pubmed.ncbi.nlm.nih.gov/27858204/ A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion. disease_ontology DOID:0080891 YAP1-MAMLD1 fusion-positive supratentorial ependymoma A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion. url:https://www.nature.com/articles/s41467-019-11884-5 A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene. ICDO:9396/3 NCI:C129351 ORDO:530792 C11orf95 fusion-positive supratentorial ependymoma Supratentorial C11ORF95-RELA fused ependymoma disease_ontology DOID:0080892 RELA fusion-positive ependymoma A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene. url:https://www.pathologyoutlines.com/topic/cnstumorependymomarelafusion.html A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion. disease_ontology DOID:0080894 lipofibromatosis-like neural tumor A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion. url:https://clinicalsarcomaresearch.biomedcentral.com/articles/10.1186/s13569-020-00136-6 url:https://pubmed.ncbi.nlm.nih.gov/27259011/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993549/ A hemangioma that is characterized by complete regression. NCI:C172207 ORDO:141184 disease_ontology DOID:0080895 rapidly involuting congenital hemangioma A hemangioma that is characterized by complete regression. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786408/ A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion. disease_ontology DOID:0080896 pericytoma with t(7;12) A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion. url:http://atlasgeneticsoncology.org/Tumors/Pericytomt0712ID5192.html url:https://pubmed.ncbi.nlm.nih.gov/30085941/ A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. ICDO:8815/1 ORDO:2126 disease_ontology DOID:0080897 solitary fibrous tumor/hemangiopericytoma A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. url:https://pubmed.ncbi.nlm.nih.gov/29521591/ url:https://thejns.org/view/journals/j-neurosurg/130/2/article-p418.xml url:https://www.sciencedirect.com/science/article/pii/S221475191830183X A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung. NCI:C45542 disease_ontology DOID:0080899 lung pleomorphic carcinoma A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung. url:https://pubmed.ncbi.nlm.nih.gov/31355240/ A rhabdomyosarcoma located in the oral cavity. disease_ontology DOID:0080900 oral rhabdomyosarcoma A rhabdomyosarcoma located in the oral cavity. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892211/ A sarcomatoid transitional cell carcinoma that is located_in the bladder. disease_ontology DOID:0080901 bladder sarcomatoid transitional cell carcinoma A sarcomatoid transitional cell carcinoma that is located_in the bladder. url:https://pubmed.ncbi.nlm.nih.gov/30287139/ A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells. disease_ontology DOID:0080902 bladder small cell carcinoma A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells. url:https://pubmed.ncbi.nlm.nih.gov/29763719/ An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42). DOID:4794 MESH:D018242 NCI:C4915 SNOMEDCT_US_2023_03_01:253070006 UMLS_CUI:C0700367 ependymoblastoma disease_ontology DOID:0080903 embryonal tumor with multilayered rosettes, C19MC-altered An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42). url:https://radiopaedia.org/articles/embryonal-tumours-with-multilayered-rosettes-etmr?lang=us url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/ An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q. ICDO:9430/3 CNS high-grade neuroepithelial tumors with MN1 alteration disease_ontology DOID:0080904 astroblastoma, MN1-altered An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q. url:https://pubmed.ncbi.nlm.nih.gov/31111274/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843525/ A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres. NCI:C4826 disease_ontology DOID:0080905 central nervous system neuroblastoma A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres. url:https://pubmed.ncbi.nlm.nih.gov/29520437/ A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo. ICDO:9500/3 CNS NB-FOXR2 CNS neuroblastoma, FOXR2-activated central nervous system neuroblastoma with FOXR2 activation disease_ontology DOID:0080906 CNS neuroblastoma with FOXR2 activation A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo. url:https://link.springer.com/article/10.1007%2Fs10014-020-00370-2 url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350623/ A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production. MESH:D064129 NCI:C130234 disease_ontology DOID:0080909 castration-resistant prostate carcinoma MESH:D064129 A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production. url:https://pubmed.ncbi.nlm.nih.gov/30324351/ A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. ICDO:9755/3 MESH:D054747 NCI:C27349 disease_ontology DOID:0080915 histiocytic sarcoma MESH:D054747 A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520642/ An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. NCI:C7152 disease_ontology DOID:0080916 erythroleukemia An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857409/ A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children. NCI:C6772 disease_ontology DOID:0080956 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children. url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6772 An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia. ICDO:9912/3 NCI:C129785 Acute myeleoid leukemia with BCR-ABL1 disease_ontology DOID:0080976 acute myeloid leukemia with BCR-ABL1 An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia. url:https://pubmed.ncbi.nlm.nih.gov/27297971/ A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes. NCI:C36081 DLBCL ABC type disease_ontology DOID:0080996 diffuse large B-cell lymphoma activated B-cell type A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes. url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36081 A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. NCI:C36080 disease_ontology DOID:0080997 diffuse large B-cell lymphoma germinal center B-cell type A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. url:https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36080 A B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. NCI:C125904 HGBL-DH/TH High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements disease_ontology DOID:0081004 high-grade B-cell lymphoma double-hit/triple-hit A B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. url:https://pubmed.ncbi.nlm.nih.gov/29475959/ A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels. NCI:C126357 disease_ontology DOID:0081026 benign peritoneal solitary fibrous tumor A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels. url:https://www.medscimonit.com/abstract/index/idArt/459077/act/3 A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. ICDO:8315/3 NCI:C4153 SNOMEDCT_US_2023_03_01:189656007 UMLS_CUI:C0334319 disease_ontology DOID:0081028 glycogen-rich carcinoma A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5350496/ An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR. ICDO:9806/3 NCI:C82192 Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 disease_ontology DOID:0081036 mixed phenotype acute leukemia with BCR-ABL1 An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6369089/ An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner. ICDO:9807/3 NCI:C82203 Mixed Phenotype Acute Leukemia with t(v;11q23.3); MLL Rearranged disease_ontology DOID:0081037 mixed phenotype acute leukemia with MLL rearranged An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner. url:https://pubmed.ncbi.nlm.nih.gov/32350732/ An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation. ICDO:9808/3 NCI:C82212 disease_ontology DOID:0081038 mixed phenotype acute leukemia, B/myeloid An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation. url:https://pubmed.ncbi.nlm.nih.gov/29686566/ An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens. ICDO:9809/3 disease_ontology DOID:0081039 mixed phenotype acute leukemia, T/myeloid An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens. url:https://link.springer.com/article/10.1186/1471-2407-14-963 A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood. GARD:8223 ICDO:9833/3 NCI:C4753 ORDO:86852 B Cell Prolymphocytic Leukemia Prolymphocytic leukemia, B-cell type disease_ontology DOID:0081041 B-cell prolymphocytic leukemia A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood. url:https://pubmed.ncbi.nlm.nih.gov/34293709/ A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. ICDO:9834/3 NCI:C4752 ORDO:86871 Prolymphocytic leukemia, T-cell type T Cell Prolymphocytic Leukemia disease_ontology DOID:0081042 T-cell prolymphocytic leukemia A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. url:https://pubmed.ncbi.nlm.nih.gov/31082044/ A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. NCI:C8459 ORDO:86882 disease_ontology DOID:0081049 hepatosplenic T-cell lymphoma A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7596851/ A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype. NCI:C45340 Primary Cutaneous Gamma-Delta T Cell Lymphomas cutaneous gamma/delta T-cell lymphoma disease_ontology DOID:0081050 primary cutaneous gamma-delta T-cell lymphoma A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype. url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3471805/ url:https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8628721/ A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding. NCI:C148395 BN2 DLBCL disease_ontology DOID:0081064 BN2 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding. url:https://pubmed.ncbi.nlm.nih.gov/29641966/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/ A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding. NCI:C148398 EZB DLBCL disease_ontology DOID:0081065 EZB diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding. url:https://pubmed.ncbi.nlm.nih.gov/29641966/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/ A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding. NCI:C148394 MCD DLBCL disease_ontology DOID:0081066 MCD diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding. url:https://pubmed.ncbi.nlm.nih.gov/29641966/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/ A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features. NCI:C148396 N1 DLBCL disease_ontology DOID:0081067 N1 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features. url:https://pubmed.ncbi.nlm.nih.gov/29641966/ A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding. ST2 DLBCL disease_ontology DOID:0081068 ST2 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010183/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/ A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation. A53 DLBCL disease_ontology DOID:0081069 A53 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation. url:https://pubmed.ncbi.nlm.nih.gov/32289277/ An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations. EZB-MYC+ DLBCL disease_ontology DOID:0081070 EZB-MYC+ diffuse large B-cell lymphoma An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations. url:https://pubmed.ncbi.nlm.nih.gov/32289277/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010183/ An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations. EZB-MYC- DLBCL disease_ontology DOID:0081071 EZB-MYC- diffuse large B-cell lymphoma An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations. url:https://pubmed.ncbi.nlm.nih.gov/32289277/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010183/ An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes. NCI:C7203 Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor Agranular CD4+ Natural Killer Cell Leukemia Blastic NK-Cell Lymphoma Blastic Natural Killer Leukemia/Lymphoma CD4+/CD56+ Hematodermic Neoplasm natural killer (NK) cell leukemia/lymphoma disease_ontology DOID:0081076 blastic plasmacytoid dendritic cell neoplasm An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes. url:https://pubmed.ncbi.nlm.nih.gov/30350260/ url:https://pubmed.ncbi.nlm.nih.gov/31972688/ url:https://www.lls.org/leukemia/blastic-plasmacytoid-dendritic-cell-neoplasm An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. ICDO:9865/3 NCI:C82423 SNOMEDCT_US_2023_03_01:450928003 UMLS_CUI:C2826169 Acute Myeloid Leukemia with t(6;9) (p23;q34.1); DEK-NUP214 DEK-NUP214 acute myeloid leukemia with t(6;9)(p23;q34) disease_ontology DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. url:https://pubmed.ncbi.nlm.nih.gov/32526729/ An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate. ICDO:9866/3 NCI:C3182 acute promyelocytic leukemia, t(15;17)(q22;q11-12) disease_ontology DOID:0081081 acute promyelocytic leukemia with PML-RARA An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate. url:https://pubmed.ncbi.nlm.nih.gov/24720386/ An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors. ICD10CM:C92.5 ICDO:9867/3 MESH:D015479 NCI:C7463 SNOMEDCT_US_2023_03_01:30962008 UMLS_CUI:C0023479 disease_ontology DOID:0081082 acute myelomonocytic leukemia An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors. url:https://pubmed.ncbi.nlm.nih.gov/31915926/ An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression. ICDO:9869/3 NCI:C82426 SNOMEDCT_US_2023_03_01:780844005 UMLS_CUI:C2826172 Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1 disease_ontology DOID:0081083 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression. url:https://pubmed.ncbi.nlm.nih.gov/31711889/ An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11. ICDO:9871/3 SNOMEDCT_US_2023_03_01:103688009 UMLS_CUI:C0522630 Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 acute myeloid leukemia with abnormal marrow eosinophils disease_ontology DOID:0081084 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expr